20 lines
5.6 KiB
Plaintext
20 lines
5.6 KiB
Plaintext
##fileformat=VCFv4.0
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##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth (only filtered reads used for calling)">
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##FORMAT=<ID=GQ,Number=1,Type=Float,Description="Genotype Quality">
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##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
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##FORMAT=<ID=PL,Number=3,Type=Float,Description="Normalized, Phred-scaled likelihoods for AA,AB,BB genotypes where A=ref and B=alt; not applicable if site is not biallelic">
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##INFO=<ID=AC,Number=.,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
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##INFO=<ID=AF,Number=.,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed">
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##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
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##INFO=<ID=DBSNP129,Number=0,Type=Flag,Description="DBSNP129 Membership">
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##INFO=<ID=DBSNP132,Number=0,Type=Flag,Description="DBSNP132 Membership">
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##INFO=<ID=GenericAnnotation,Number=1,Type=Integer,Description="For each variant in the 'variants' ROD, finds all entries in the other -B files that overlap the variant's position.">
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##INFO=<ID=HAPMAP,Number=0,Type=Flag,Description="HAPMAP Membership">
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##INFO=<ID=OMNI,Number=0,Type=Flag,Description="OMNI Membership">
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#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HG00513 NA12045 HG00625
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20 10003358 rs926982 A C 92318.04 PASS AC=5;AF=0.83;AN=6;DBSNP129;DBSNP132;DP=7 GT:DP:GQ:PL 1/1:1:3:34,3,0 0/1:5:51:51,0,95 1/1:1:3:27,3,0
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20 10003692 rs2064653 A G 119873.04 PASS AC=5;AF=0.83;AN=6;DBSNP129;DBSNP132;DP=9 GT:DP:GQ:PL 1/1:2:6:66,6,0 0/1:4:20:20,0,85 1/1:3:9:112,9,0
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20 10015679 rs113024248 C . 2829.33 PASS AC=0;AF=0.00;AN=0;DBSNP132;DP=0;OMNI GT:DP:PL ./. ./. ./.
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20 10015790 rs114356776 G . 43.60 PASS AC=0;AF=0.00;AN=0;DBSNP132;DP=0;refseq.chr_1=20;refseq.chr_2=20;refseq.chr_3=20;refseq.chr_4=20;refseq.chr_5=20;refseq.chr_6=20;refseq.chr_7=20;refseq.chr_8=20;refseq.codingCoordStr_1=c.-300G>A;refseq.codingCoordStr_2=c.-236G>A;refseq.codingCoordStr_3=c.-300G>C;refseq.codingCoordStr_4=c.-236G>C;refseq.codingCoordStr_5=c.-300G>G;refseq.codingCoordStr_6=c.-236G>G;refseq.codingCoordStr_7=c.-300G>T;refseq.codingCoordStr_8=c.-236G>T;refseq.end_1=10015790;refseq.end_2=10015790;refseq.end_3=10015790;refseq.end_4=10015790;refseq.end_5=10015790;refseq.end_6=10015790;refseq.end_7=10015790;refseq.end_8=10015790;refseq.haplotypeAlternate_1=A;refseq.haplotypeAlternate_2=A;refseq.haplotypeAlternate_3=C;refseq.haplotypeAlternate_4=C;refseq.haplotypeAlternate_5=G;refseq.haplotypeAlternate_6=G;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=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.mrnaCoord_1=94;refseq.mrnaCoord_2=94;refseq.mrnaCoord_3=94;refseq.mrnaCoord_4=94;refseq.mrnaCoord_5=94;refseq.mrnaCoord_6=94;refseq.mrnaCoord_7=94;refseq.mrnaCoord_8=94;refseq.name2_1=ANKRD5;refseq.name2_2=ANKRD5;refseq.name2_3=ANKRD5;refseq.name2_4=ANKRD5;refseq.name2_5=ANKRD5;refseq.name2_6=ANKRD5;refseq.name2_7=ANKRD5;refseq.name2_8=ANKRD5;refseq.name_1=NM_022096;refseq.name_2=NM_198798;refseq.name_3=NM_022096;refseq.name_4=NM_198798;refseq.name_5=NM_022096;refseq.name_6=NM_198798;refseq.name_7=NM_022096;refseq.name_8=NM_198798;refseq.numMatchingRecords=8;refseq.positionType_1=utr5;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.positionType_8=utr5;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.spliceDist_7=94;refseq.spliceDist_8=94;refseq.start_1=10015790;refseq.start_2=10015790;refseq.start_3=10015790;refseq.start_4=10015790;refseq.start_5=10015790;refseq.start_6=10015790;refseq.start_7=10015790;refseq.start_8=10015790;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.transcriptStrand_3=+;refseq.transcriptStrand_4=+;refseq.transcriptStrand_5=+;refseq.transcriptStrand_6=+;refseq.transcriptStrand_7=+;refseq.transcriptStrand_8=+ GT:DP:PL ./. ./. ./.
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20 10019093 rs575534 A G 69795.04 PASS AC=3;AF=0.50;AN=6;DBSNP129;DBSNP132;DP=14;OMNI;refseq.changesAA_1=false;refseq.changesAA_2=false;refseq.chr_1=20;refseq.chr_2=20;refseq.codingCoordStr_1=c.144A>G;refseq.codingCoordStr_2=c.144A>G;refseq.codonCoord_1=48;refseq.codonCoord_2=48;refseq.end_1=10019093;refseq.end_2=10019093;refseq.frame_1=2;refseq.frame_2=2;refseq.functionalClass_1=silent;refseq.functionalClass_2=silent;refseq.haplotypeAlternate_1=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=10019093;refseq.start_2=10019093;refseq.transcriptStrand_1=+;refseq.transcriptStrand_2=+;refseq.variantAA_1=Gly;refseq.variantAA_2=Gly;refseq.variantCodon_1=GGG;refseq.variantCodon_2=GGG GT:DP:GQ:PL 0/1:3:24:24,0,60 0/0:6:18:0,18,211 1/1:5:15:172,15,0
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