diff --git a/build.xml b/build.xml index 9a66d4699..7389503bb 100644 --- a/build.xml +++ b/build.xml @@ -24,130 +24,177 @@ Compile and distribute the Sting toolkit + + + + + + + + + + + + + + + - - - + + + + - - - - - - - - - - - - + - - + + + + + + + + + + + + + + + + + + + + + + + + + + + - + + - - + - + - - - - - + + - - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + - + - - - - - - - - + + - - + + - - - - - - - - - - + + - - - - - - - - - - - - + + - - - - - - - @@ -157,6 +204,45 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -166,54 +252,35 @@ - - + + - - - + + + - + - + - - - - - - - - + + + + - - - - - - - - - - - - - - + + + + @@ -245,98 +312,123 @@ - + + + + + + + + + + + + + + + + + + + + + + + + - - - + + + - - - + + + + + + + + + - - - + + + + + - - - + + + + + + + + - - - - - + + - - - - + + + - - - + - - - + + + - - - + + + - - - - - + + + - - - + + + - - - + + + - - - - - + + + + + + + + + + + + + + + - - - - - - - - - - - - - - + + + + + + + + - - - - - - - + @@ -345,12 +437,11 @@ - + - - + + + @@ -359,39 +450,20 @@ - - - - - - - - - - - - - - - - - - - - - - - + + + + + - + @@ -402,7 +474,7 @@ - + Generating Queue GATK extensions... @@ -420,34 +492,33 @@ + + + + + + + + + + + + - + Building Scala... - + - + - - - - - - - - - - - - - - - - + + + @@ -465,7 +536,7 @@ - + @@ -479,6 +550,7 @@ + @@ -516,42 +588,13 @@ - - - - - - - - - - - - - - - - - - - - - - + + + - - - - - @@ -559,7 +602,22 @@ - + + + + + + + + + + + + + + + + @@ -575,11 +633,8 @@ - - - - - + + @@ -591,29 +646,24 @@ + - - + - + - + - - - - - + @@ -629,24 +679,6 @@ - - - - - - - - - - - - - - - - - - @@ -655,7 +687,7 @@ - + @@ -663,7 +695,7 @@ - + @@ -671,10 +703,7 @@ - - - - + @@ -702,22 +731,14 @@ - - - - - - - - - + @@ -727,414 +748,111 @@ + + + + + - - - - - + - - - - - + - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - + - - - - - - - - - - - - - - - + + + - - - - - - + + + + - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - + + + - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - + + + + + - - - - - - - - - - - - - - - - - - - - + + - - - - - + - - - - - + - + - + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -1156,27 +874,47 @@ - - + + + - - - - + + + + + + + + + + + + + + + + + + + + + + + @@ -1203,30 +941,28 @@ + - + - - - - - - - - - - - - - - - - - + + + + + + + + + + + + + + + + + + @@ -1238,6 +974,11 @@ + + + + + @@ -1245,10 +986,352 @@ - - - - - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/ivy.xml b/ivy.xml index 06296c6b4..b197d0714 100644 --- a/ivy.xml +++ b/ivy.xml @@ -23,86 +23,90 @@ --> - - - - - - - - - - - + + + + + + + + + + + - - + + - - - - - - + + + + + + - - + + - - + + - - + + - - - - - - - - - - + + - - + + + + + + + - - + + - - + + - - + + - - - + + - - - - - - - + + + - - - + + + + - - - + + + - - + + + - - - - - + + + + + + + + + + + + + + + diff --git a/licensing/GATK2_beta_license.doc b/licensing/GATK2_beta_license.doc index 4fa04a3f6..6c12bfe30 100644 Binary files a/licensing/GATK2_beta_license.doc and b/licensing/GATK2_beta_license.doc differ diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/EmpiricalQual.java b/protected/java/src/org/broadinstitute/sting/gatk/DummyProtectedClass.java old mode 100755 new mode 100644 similarity index 51% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/EmpiricalQual.java rename to protected/java/src/org/broadinstitute/sting/gatk/DummyProtectedClass.java index e9bfa3513..c1324aea4 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/EmpiricalQual.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/DummyProtectedClass.java @@ -1,4 +1,4 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; +package org.broadinstitute.sting.gatk; /* * Copyright (c) 2009 The Broad Institute @@ -25,31 +25,10 @@ package org.broadinstitute.sting.gatk.walkers.recalibration; * OTHER DEALINGS IN THE SOFTWARE. */ -/** - * Created by IntelliJ IDEA. - * User: carneiro - * Date: Mar 22, 2012 - * - * Object that holds the empirical quality and estimated reported quality values for on-the-fly recalibration. This is a simplification of the RecalDatum object - */ +import org.broadinstitute.sting.utils.classloader.ProtectedPackageSource; -public class EmpiricalQual { +public class DummyProtectedClass implements ProtectedPackageSource { - private double estimatedQReported; // estimated reported quality score based on combined data's individual q-reporteds and number of observations - private double empiricalQuality; // the empirical quality for datums that have been collapsed together (by read group and reported quality, for example) - - private EmpiricalQual() {} - - public EmpiricalQual(final double estimatedQReported, final double empiricalQuality) { - this.estimatedQReported = estimatedQReported; - this.empiricalQuality = empiricalQuality; - } - - public final double getEstimatedQReported() { - return estimatedQReported; - } - - public final double getEmpiricalQuality() { - return empiricalQuality; - } -} \ No newline at end of file + // THIS CLASS IS USED JUST SO THAT WE CAN TEST WHETHER WE ARE USING THE LITE OR FULL VERSION OF THE GATK + // **** DO NOT REMOVE! **** +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/AdvancedRecalibrationEngine.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/AdvancedRecalibrationEngine.java new file mode 100644 index 000000000..9eca81852 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/AdvancedRecalibrationEngine.java @@ -0,0 +1,99 @@ +package org.broadinstitute.sting.gatk.walkers.bqsr; + +/* + * Copyright (c) 2009 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +import org.broadinstitute.sting.utils.BaseUtils; +import org.broadinstitute.sting.utils.classloader.ProtectedPackageSource; +import org.broadinstitute.sting.utils.collections.NestedIntegerArray; +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.recalibration.RecalibrationTables; + +public class AdvancedRecalibrationEngine extends StandardRecalibrationEngine implements ProtectedPackageSource { + + // optimizations: don't reallocate an array each time + private byte[] tempQualArray; + private boolean[] tempErrorArray; + + public void initialize(final Covariate[] covariates, final RecalibrationTables recalibrationTables) { + super.initialize(covariates, recalibrationTables); + tempQualArray = new byte[EventType.values().length]; + tempErrorArray = new boolean[EventType.values().length]; + } + + /** + * Loop through the list of requested covariates and pick out the value from the read, offset, and reference + * Using the list of covariate values as a key, pick out the RecalDatum and increment, + * adding one to the number of observations and potentially one to the number of mismatches for all three + * categories (mismatches, insertions and deletions). + * + * @param pileupElement The pileup element to update + * @param refBase The reference base at this locus + */ + public synchronized void updateDataForPileupElement(final PileupElement pileupElement, final byte refBase) { + final int offset = pileupElement.getOffset(); + final ReadCovariates readCovariates = covariateKeySetFrom(pileupElement.getRead()); + + tempQualArray[EventType.BASE_SUBSTITUTION.index] = pileupElement.getQual(); + tempErrorArray[EventType.BASE_SUBSTITUTION.index] = !BaseUtils.basesAreEqual(pileupElement.getBase(), refBase); + tempQualArray[EventType.BASE_INSERTION.index] = pileupElement.getBaseInsertionQual(); + tempErrorArray[EventType.BASE_INSERTION.index] = (pileupElement.getRead().getReadNegativeStrandFlag()) ? pileupElement.isAfterInsertion() : pileupElement.isBeforeInsertion(); + tempQualArray[EventType.BASE_DELETION.index] = pileupElement.getBaseDeletionQual(); + tempErrorArray[EventType.BASE_DELETION.index] = (pileupElement.getRead().getReadNegativeStrandFlag()) ? pileupElement.isAfterDeletedBase() : pileupElement.isBeforeDeletedBase(); + + for (final EventType eventType : EventType.values()) { + final int[] keys = readCovariates.getKeySet(offset, eventType); + final int eventIndex = eventType.index; + final byte qual = tempQualArray[eventIndex]; + final boolean isError = tempErrorArray[eventIndex]; + + final NestedIntegerArray rgRecalTable = recalibrationTables.getTable(RecalibrationTables.TableType.READ_GROUP_TABLE); + final RecalDatum rgPreviousDatum = rgRecalTable.get(keys[0], eventIndex); + final RecalDatum rgThisDatum = createDatumObject(qual, isError); + if (rgPreviousDatum == null) // key doesn't exist yet in the map so make a new bucket and add it + rgRecalTable.put(rgThisDatum, keys[0], eventIndex); + else + rgPreviousDatum.combine(rgThisDatum); + + final NestedIntegerArray qualRecalTable = recalibrationTables.getTable(RecalibrationTables.TableType.QUALITY_SCORE_TABLE); + final RecalDatum qualPreviousDatum = qualRecalTable.get(keys[0], keys[1], eventIndex); + if (qualPreviousDatum == null) + qualRecalTable.put(createDatumObject(qual, isError), keys[0], keys[1], eventIndex); + else + qualPreviousDatum.increment(isError); + + for (int i = 2; i < covariates.length; i++) { + if (keys[i] < 0) + continue; + final NestedIntegerArray covRecalTable = recalibrationTables.getTable(i); + final RecalDatum covPreviousDatum = covRecalTable.get(keys[0], keys[1], keys[i], eventIndex); + if (covPreviousDatum == null) + covRecalTable.put(createDatumObject(qual, isError), keys[0], keys[1], keys[i], eventIndex); + else + covPreviousDatum.increment(isError); + } + } + } +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseAndQualsCounts.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseAndQualsCounts.java new file mode 100644 index 000000000..98a96fbfb --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseAndQualsCounts.java @@ -0,0 +1,56 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import java.util.HashMap; +import java.util.Map; + +/** + * An object that keeps track of the base counts as well as the sum of the base, insertion and deletion qualities of each base. + * + * @author Mauricio Carneiro + * @since 6/15/12 + */ +public class BaseAndQualsCounts extends BaseCounts { + private final Map sumInsertionQuals; + private final Map sumDeletionQuals; + + public BaseAndQualsCounts() { + super(); + this.sumInsertionQuals = new HashMap(); + this.sumDeletionQuals = new HashMap(); + for (BaseIndex i : BaseIndex.values()) { + sumInsertionQuals.put(i, 0L); + sumDeletionQuals.put(i, 0L); + } + } + + public void incr(byte base, byte baseQual, byte insQual, byte delQual) { + super.incr(base, baseQual); + BaseIndex i = BaseIndex.byteToBase(base); + if (i != null) { // do not allow Ns + sumInsertionQuals.put(i, sumInsertionQuals.get(i) + insQual); + sumDeletionQuals.put(i, sumDeletionQuals.get(i) + delQual); + } + } + + public void decr(byte base, byte baseQual, byte insQual, byte delQual) { + super.decr(base, baseQual); + BaseIndex i = BaseIndex.byteToBase(base); + if (i != null) { // do not allow Ns + sumInsertionQuals.put(i, sumInsertionQuals.get(i) - insQual); + sumDeletionQuals.put(i, sumDeletionQuals.get(i) - delQual); + } + } + + public byte averageInsertionQualsOfMostCommonBase() { + return getGenericAverageQualOfMostCommonBase(sumInsertionQuals); + } + + public byte averageDeletionQualsOfMostCommonBase() { + return getGenericAverageQualOfMostCommonBase(sumDeletionQuals); + } + + private byte getGenericAverageQualOfMostCommonBase(Map sumQuals) { + BaseIndex base = BaseIndex.byteToBase(baseWithMostCounts()); + return (byte) (sumQuals.get(base) / getCount(base)); + } +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCounts.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCounts.java new file mode 100644 index 000000000..ed5802d38 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCounts.java @@ -0,0 +1,223 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; + +import java.util.EnumMap; +import java.util.Map; + +/** + * An object to keep track of the number of occurences of each base and it's quality. + * + * User: depristo + * Date: 4/8/11 + * Time: 2:55 PM + */ + + public class BaseCounts { + public final static BaseIndex MAX_BASE_INDEX_WITH_NO_COUNTS = BaseIndex.N; + public final static byte MAX_BASE_WITH_NO_COUNTS = MAX_BASE_INDEX_WITH_NO_COUNTS.getByte(); + + private final Map counts; // keeps track of the base counts + private final Map sumQuals; // keeps track of the quals of each base + + public BaseCounts() { + counts = new EnumMap(BaseIndex.class); + sumQuals = new EnumMap(BaseIndex.class); + for (BaseIndex i : BaseIndex.values()) { + counts.put(i, 0); + sumQuals.put(i, 0L); + } + } + + public static BaseCounts createWithCounts(int[] countsACGT) { + BaseCounts baseCounts = new BaseCounts(); + baseCounts.counts.put(BaseIndex.A, countsACGT[0]); + baseCounts.counts.put(BaseIndex.C, countsACGT[1]); + baseCounts.counts.put(BaseIndex.G, countsACGT[2]); + baseCounts.counts.put(BaseIndex.T, countsACGT[3]); + return baseCounts; + } + + @Requires("other != null") + public void add(BaseCounts other) { + for (BaseIndex i : BaseIndex.values()) + counts.put(i, counts.get(i) + other.counts.get(i)); + } + + @Requires("other != null") + public void sub(BaseCounts other) { + for (BaseIndex i : BaseIndex.values()) + counts.put(i, counts.get(i) - other.counts.get(i)); + } + + @Ensures("totalCount() == old(totalCount()) || totalCount() == old(totalCount()) + 1") + public void incr(byte base) { + BaseIndex i = BaseIndex.byteToBase(base); + if (i != null) // no Ns + counts.put(i, counts.get(i) + 1); + } + + @Ensures("totalCount() == old(totalCount()) || totalCount() == old(totalCount()) + 1") + public void incr(byte base, byte qual) { + BaseIndex i = BaseIndex.byteToBase(base); + if (i != null) { // no Ns + counts.put(i, counts.get(i) + 1); + sumQuals.put(i, sumQuals.get(i) + qual); + } + } + + @Ensures("totalCount() == old(totalCount()) || totalCount() == old(totalCount()) - 1") + public void decr(byte base) { + BaseIndex i = BaseIndex.byteToBase(base); + if (i != null) // no Ns + counts.put(i, counts.get(i) - 1); + } + + @Ensures("totalCount() == old(totalCount()) || totalCount() == old(totalCount()) - 1") + public void decr(byte base, byte qual) { + BaseIndex i = BaseIndex.byteToBase(base); + if (i != null) { // no Ns + counts.put(i, counts.get(i) - 1); + sumQuals.put(i, sumQuals.get(i) - qual); + } + } + + + + @Ensures("result >= 0") + public int getCount(byte base) { + return getCount(BaseIndex.byteToBase(base)); + } + + @Ensures("result >= 0") + public int getCount(BaseIndex base) { + return counts.get(base); + } + + @Ensures("result >= 0") + public long getSumQuals(byte base) { + return getSumQuals(BaseIndex.byteToBase(base)); + } + + @Ensures("result >= 0") + public long getSumQuals(BaseIndex base) { + return sumQuals.get(base); + } + + @Ensures("result >= 0") + public byte averageQuals(byte base) { + return (byte) (getSumQuals(base) / getCount(base)); + } + + @Ensures("result >= 0") + public byte averageQuals(BaseIndex base) { + return (byte) (getSumQuals(base) / getCount(base)); + } + + public byte baseWithMostCounts() { + return baseIndexWithMostCounts().getByte(); + } + + @Ensures("result >= 0") + public int countOfMostCommonBase() { + return counts.get(baseIndexWithMostCounts()); + } + + @Ensures("result >= 0") + public long sumQualsOfMostCommonBase() { + return sumQuals.get(baseIndexWithMostCounts()); + } + + @Ensures("result >= 0") + public byte averageQualsOfMostCommonBase() { + return (byte) (sumQualsOfMostCommonBase() / countOfMostCommonBase()); + } + + + @Ensures("result >= 0") + public int totalCount() { + int sum = 0; + for (int c : counts.values()) + sum += c; + + return sum; + } + + /** + * Given a base , it returns the proportional count of this base compared to all other bases + * + * @param base + * @return the proportion of this base over all other bases + */ + @Ensures({"result >=0.0", "result<= 1.0"}) + public double baseCountProportion(byte base) { + return (double) counts.get(BaseIndex.byteToBase(base)) / totalCount(); + } + + /** + * Given a base , it returns the proportional count of this base compared to all other bases + * + * @param baseIndex + * @return the proportion of this base over all other bases + */ + @Ensures({"result >=0.0", "result<= 1.0"}) + public double baseCountProportion(BaseIndex baseIndex) { + int total = totalCount(); + if (total == 0) + return 0.0; + return (double) counts.get(baseIndex) / totalCount(); + } + + + @Ensures("result != null") + public String toString() { + StringBuilder b = new StringBuilder(); + for (Map.Entry elt : counts.entrySet()) { + b.append(elt.toString()).append("=").append(elt.getValue()).append(","); + } + return b.toString(); + } + + @Ensures("result != null") + public BaseIndex baseIndexWithMostCounts() { + BaseIndex maxI = MAX_BASE_INDEX_WITH_NO_COUNTS; + for (BaseIndex i : counts.keySet()) + if (counts.get(i) > counts.get(maxI)) + maxI = i; + return maxI; + } + + @Ensures("result != null") + public BaseIndex baseIndexWithMostCountsWithoutIndels() { + BaseIndex mostCounts = MAX_BASE_INDEX_WITH_NO_COUNTS; + for (BaseIndex index : counts.keySet()) + if (index.isNucleotide() && counts.get(index) > counts.get(mostCounts)) + mostCounts = index; + return mostCounts; + } + + @Ensures("result >=0") + public int totalCountWithoutIndels() { + int sum = 0; + for (BaseIndex index : counts.keySet()) + if (index.isNucleotide()) + sum += counts.get(index); + return sum; + } + + /** + * Calculates the proportional count of a base compared to all other bases except indels (I and D) + * + * @param index + * @return the proportion of this base over all other bases except indels + */ + @Requires("index.isNucleotide()") + @Ensures({"result >=0.0", "result<= 1.0"}) + public double baseCountProportionWithoutIndels(BaseIndex index) { + int total = totalCountWithoutIndels(); + if (total == 0) + return 0.0; + return (double) counts.get(index) / totalCountWithoutIndels(); + } +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseIndex.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseIndex.java new file mode 100644 index 000000000..a64db5874 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseIndex.java @@ -0,0 +1,82 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +/** + * Simple byte / base index conversions + * + * + * @author carneiro + * @since 8/26/11 + */ +public enum BaseIndex { + A ( 'A', 0 ), + C ( 'C', 1 ), + G ( 'G', 2 ), + T ( 'T', 3 ), + D ( 'D', 4 ), + I ( 'I', 5 ), // insertion to the right of the base + N ( 'N', 6 ); + + final byte b; + final int index; + + public byte getByte() { return b; } + + private BaseIndex(char base, int index) { + this.b = (byte)base; + this.index = index; + } + + /** + * Converts a byte representation of a base to BaseIndex + * + * @param base the byte representation of the base + * @return the BaseIndex representation of the base; + */ + public static BaseIndex byteToBase(final byte base) { + switch (base) { + case 'A': + case 'a': + return A; + case 'C': + case 'c': + return C; + case 'G': + case 'g': + return G; + case 'T': + case 't': + return T; + case 'D': + case 'd': + case '-': + return D; + case 'I': + case 'i': + return I; + case 'N': + case 'n': + return N; + default: return null; + } + } + + /** + * Definition of a nucleotide for the BaseIndex is anything that has been read as a base + * by the machine (A,C,G,T), even if it couldn't tell which base it was, but it knows + * there is a base there (N). + * + * @return whether or not it is a nucleotide, given the definition above + */ + public boolean isNucleotide() { + return this == A || this == C || this == G || this == T || this == N; + } + + /** + * Whether or not this base is an insertion or a deletion + * + * @return true for I or D, false otherwise + */ + public boolean isIndel() { + return this == D || this == I; + } +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/CompareBAM.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/CompareBAM.java new file mode 100644 index 000000000..f8c9c5396 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/CompareBAM.java @@ -0,0 +1,182 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import org.broadinstitute.sting.commandline.Argument; +import org.broadinstitute.sting.gatk.contexts.AlignmentContext; +import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.filters.DuplicateReadFilter; +import org.broadinstitute.sting.gatk.filters.FailsVendorQualityCheckFilter; +import org.broadinstitute.sting.gatk.filters.NotPrimaryAlignmentFilter; +import org.broadinstitute.sting.gatk.filters.UnmappedReadFilter; +import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; +import org.broadinstitute.sting.gatk.walkers.LocusWalker; +import org.broadinstitute.sting.gatk.walkers.ReadFilters; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.util.HashMap; +import java.util.Map; + +/** + * Given two BAMs with different read groups, it compares them based on ReduceReads metrics. + *

+ * This is a test walker used for asserting that the ReduceReads procedure is not making blatant mistakes when compressing bam files. + *

+ *

Input

+ *

+ * Two BAM files (using -I) with different read group IDs + *

+ *

Output

+ *

+ * [Output description] + *

+ *

Examples

+ *
+ *    java
+ *      -jar GenomeAnalysisTK.jar
+ *      -T $WalkerName
+ *  
+ * + * @author carneiro + * @since 10/30/11 + */ + +@ReadFilters({UnmappedReadFilter.class,NotPrimaryAlignmentFilter.class,DuplicateReadFilter.class,FailsVendorQualityCheckFilter.class}) +public class CompareBAM extends LocusWalker, CompareBAM.TestResults> { + @Argument(required = true, shortName = "rr", fullName = "reduced_readgroup", doc = "The read group ID corresponding to the compressed BAM being tested") public String reducedReadGroupID; + @Argument(required = false, shortName = "teq", fullName = "test_equal_bases", doc = "Test if the bases marked as '=' are indeed ref bases.") public boolean TEST_EQUAL_BASES = false; + @Argument(required = false, shortName = "tbc", fullName = "test_base_counts", doc = "Test if the base counts tag in consensus reads are accurate.") public boolean TEST_BASE_COUNTS = false; + @Argument(required = false, shortName = "mbq", fullName = "min_base_qual", doc = "Minimum base quality to be considered.") public int MIN_BASE_QUAL = 20; + @Argument(required = false, shortName = "mmq", fullName = "min_mapping_qual", doc = "Minimum mapping quality to be considered.") public int MIN_MAPPING_QUAL = 20; + + + @Override + public Map map (RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { + Map result = new HashMap(); + + if (TEST_EQUAL_BASES) result.put(TestName.EQUAL_BASES, testEqualBases(ref, context)); + if (TEST_BASE_COUNTS) result.put(TestName.BASE_COUNTS, testBaseCounts(ref, context)); + + return result; + } + + @Override + public TestResults reduceInit () { + TestResults sum = new TestResults(); // a fresh new TestResults object to sum up the results of every object passed by MAP. + + if (TEST_EQUAL_BASES) sum.createTest(TestName.EQUAL_BASES); + if (TEST_BASE_COUNTS) sum.createTest(TestName.BASE_COUNTS); + + return sum; + } + + @Override + public TestResults reduce (Map mapResult, TestResults sum) { + for (TestName test : mapResult.keySet()) { + if (mapResult.get(test)) + sum.reportSuccess(test); + else + sum.reportFailed(test); + } + + return sum; + } + + public void onTraversalDone (TestResults finalResults) { + finalResults.report(); + } + + private boolean testEqualBases (ReferenceContext ref, AlignmentContext context) { + return true; + } + + private boolean testBaseCounts (ReferenceContext ref, AlignmentContext context) { + + return true; + } + + public enum TestName { + EQUAL_BASES ("testEqualBases"), + BASE_COUNTS ("testBaseCounts"); + + private String testName; + + TestName(String testName) { + this.testName = testName; + } + + public String getTestName() { + return testName; + } + } + + public class TestResults { + private Map testStats = new HashMap(); + + public void createTest (TestName test) { + testStats.put(test, new TestOutcome()); + } + + public void reportSuccess(TestName test) { + if (testStats.containsKey(test)) + testStats.get(test).incPassed(); + else + throw new ReviewedStingException("No such test: " + test); + } + + public void reportFailed(TestName test) { + if (testStats.containsKey(test)) + testStats.get(test).incFailed(); + else + throw new ReviewedStingException("No such test: " + test); + } + + public void report() { + System.out.println(); + System.out.println(String.format("%20s\tPASS\tFAIL", "")); + for (TestName test : testStats.keySet()) + System.out.println(String.format("%20s\t%d\t%d", test.getTestName(), testStats.get(test).getPassed(), testStats.get(test).getFailed())); + System.out.println(); + } + } + + private class TestOutcome { + private long passed; + private long failed; + + public long getPassed() { + return passed; + } + + public void incPassed() { + this.passed++; + } + + public long getFailed() { + return failed; + } + + public void incFailed() { + this.failed++; + } + } + + private BaseCounts getFilteredBaseCounts(AlignmentContext context) { + return getBaseCounts(context, MIN_BASE_QUAL, MIN_MAPPING_QUAL); + } + + private BaseCounts getFullBaseCounts(AlignmentContext context) { + return getBaseCounts(context, 3, 0); + } + + private BaseCounts getBaseCounts(AlignmentContext context, int mbq, int mmq) { + BaseCounts fullBaseCounts = new BaseCounts(); + for (String rg : context.getBasePileup().getReadGroups()) { + if (!rg.equals(reducedReadGroupID)) { + BaseCounts b = BaseCounts.createWithCounts(context.getBasePileup().getPileupForReadGroup(rg).getBaseAndMappingFilteredPileup(mbq, mmq).getBaseCounts()); + fullBaseCounts.add(b); + } + } + return fullBaseCounts; + } + + +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/Compressor.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/Compressor.java new file mode 100644 index 000000000..1d173b444 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/Compressor.java @@ -0,0 +1,62 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; + +/* + * Copyright (c) 2009 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +/** + * Created by IntelliJ IDEA. + * User: depristo + * Date: 4/10/11 + * Time: 8:49 AM + * + * A general interface for ReadCompressors. Read compressors have the following semantics: + * + * The accept a stream of reads, in order, and after each added read returns a compressed stream + * of reads for emission. This stream of reads is a "reduced" representation of the total stream + * of reads. The actual compression approach is left up to the implementing class. + */ +public interface Compressor { + /** + * Adds the read to the compressor. The returned iteratable collection of + * reads represents the incremental compressed output. + * @param read the next uncompressed read in the input stream to the compressor + * @return an iterator over the incrementally available compressed reads + */ + @Requires("read != null") + @Ensures("result != null") + Iterable addAlignment(GATKSAMRecord read); + + /** + * Must be called after the last read has been added to finalize the compressor state + * and return the last compressed reads from the compressor. + * @return an iterator over the final compressed reads of this compressor + */ + @Ensures("result != null") + Iterable close(); +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/HeaderElement.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/HeaderElement.java new file mode 100644 index 000000000..6b92046de --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/HeaderElement.java @@ -0,0 +1,204 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.util.LinkedList; + +/** + * The element that describes the header of the sliding window. + * + * Each site has a header element containing the counts of each base, it's reference based location and whether or + * not the site has insertions (to it's right). It also contains information about the bases that have been filtered + * out due to mapping or base quality. + */ +public class HeaderElement { + private BaseAndQualsCounts consensusBaseCounts; // How many A,C,G,T (and D's) are in this site. + private BaseAndQualsCounts filteredBaseCounts; // How many A,C,G,T (and D's) were filtered out in this site. + private int insertionsToTheRight; // How many reads in this site had insertions to the immediate right + private int nSoftClippedBases; // How many bases in this site came from soft clipped bases + private int location; // Genome location of this site (the sliding window knows which contig we're at + private LinkedList mappingQuality; // keeps the mapping quality of each read that contributed to this element (site) + + public int getLocation() { + return location; + } + + public BaseAndQualsCounts getFilteredBaseCounts() { + return filteredBaseCounts; + } + + public BaseAndQualsCounts getConsensusBaseCounts() { + return consensusBaseCounts; + } + + /** + * Creates a new HeaderElement with the following default values: - empty consensusBaseCounts - empty + * filteredBaseCounts - 0 insertions to the right - empty mappingQuality list + * + * @param location the reference location for the new element + */ + public HeaderElement(int location) { + this(new BaseAndQualsCounts(), new BaseAndQualsCounts(), 0, 0, location, new LinkedList()); + } + + /** + * Creates a new HeaderElement with all given parameters + * + * @param consensusBaseCounts the BaseCounts object for the running consensus synthetic read + * @param filteredBaseCounts the BaseCounts object for the filtered data synthetic read + * @param insertionsToTheRight number of insertions to the right of this HeaderElement + * @param location the reference location of this reference element + * @param mappingQuality the list of mapping quality values of all reads that contributed to this + * HeaderElement + */ + public HeaderElement(BaseAndQualsCounts consensusBaseCounts, BaseAndQualsCounts filteredBaseCounts, int insertionsToTheRight, int nSoftClippedBases, int location, LinkedList mappingQuality) { + this.consensusBaseCounts = consensusBaseCounts; + this.filteredBaseCounts = filteredBaseCounts; + this.insertionsToTheRight = insertionsToTheRight; + this.nSoftClippedBases = nSoftClippedBases; + this.location = location; + this.mappingQuality = mappingQuality; + } + + /** + * Whether or not the site represented by this HeaderElement is variant according to the definitions of variant + * by insertion, deletion and mismatches. + * + * @return true if site is variant by any definition. False otherwise. + */ + public boolean isVariant(double minVariantProportion, double minIndelProportion) { + return hasConsensusData() && (isVariantFromInsertions(minIndelProportion) || isVariantFromMismatches(minVariantProportion) || isVariantFromDeletions(minIndelProportion) || isVariantFromSoftClips()); + } + + /** + * Adds a new base to the HeaderElement updating all counts accordingly + * + * @param base the base to add + * @param baseQual the base quality + * @param baseMappingQuality the mapping quality of the read this base belongs to + */ + public void addBase(byte base, byte baseQual, byte insQual, byte delQual, int baseMappingQuality, int minBaseQual, int minMappingQual, boolean isSoftClipped) { + if (basePassesFilters(baseQual, minBaseQual, baseMappingQuality, minMappingQual)) + consensusBaseCounts.incr(base, baseQual, insQual, delQual); // If the base passes filters, it is included in the consensus base counts + else + filteredBaseCounts.incr(base, baseQual, insQual, delQual); // If the base fails filters, it is included with the filtered data base counts + + this.mappingQuality.add(baseMappingQuality); // Filtered or not, the RMS mapping quality includes all bases in this site + nSoftClippedBases += isSoftClipped ? 1 : 0; // if this base is softclipped, add the counter + } + + public void removeBase(byte base, byte baseQual, byte insQual, byte delQual, int baseMappingQuality, int minBaseQual, int minMappingQual, boolean isSoftClipped) { + if (basePassesFilters(baseQual, minBaseQual, baseMappingQuality, minMappingQual)) + consensusBaseCounts.decr(base, baseQual, insQual, delQual); // If the base passes filters, it is included in the consensus base counts + else + filteredBaseCounts.decr(base, baseQual, insQual, delQual); // If the base fails filters, it is included with the filtered data base counts + + this.mappingQuality.remove((Integer) baseMappingQuality); // Filtered or not, the RMS mapping quality includes all bases in this site + nSoftClippedBases -= isSoftClipped ? 1 : 0; // if this base is softclipped, add the counter + } + /** + * Adds an insertions to the right of the HeaderElement and updates all counts accordingly. All insertions + * should be added to the right of the element. + */ + public void addInsertionToTheRight() { + insertionsToTheRight++; + } + + /** + * Does this HeaderElement contain consensus data? + * + * @return whether or not this HeaderElement contains consensus data + */ + public boolean hasConsensusData() { + return consensusBaseCounts.totalCount() > 0; + } + + /** + * Does this HeaderElement contain filtered data? + * + * @return whether or not this HeaderElement contains filtered data + */ + public boolean hasFilteredData() { + return filteredBaseCounts.totalCount() > 0; + } + + /** + * A HeaderElement is empty if it has no consensus or filtered data + * + * @return whether or not this HeaderElement has no data + */ + public boolean isEmpty() { + return (!hasFilteredData() && !hasConsensusData()); + } + + /** + * The RMS of the mapping qualities of all reads that contributed to this HeaderElement + * + * @return the RMS of the mapping qualities of all reads that contributed to this HeaderElement + */ + public double getRMS() { + return MathUtils.rms(mappingQuality); + } + + /** + * removes an insertion from this element (if you removed a read that had an insertion) + */ + public void removeInsertionToTheRight() { + this.insertionsToTheRight--; + if (insertionsToTheRight < 0) + throw new ReviewedStingException("Removed too many insertions, header is now negative!"); + } + + /** + * Whether or not the HeaderElement is variant due to excess insertions + * + * @return whether or not the HeaderElement is variant due to excess insertions + */ + private boolean isVariantFromInsertions(double minIndelProportion) { + int numberOfBases = consensusBaseCounts.totalCount(); + if (numberOfBases == 0 && insertionsToTheRight > 0) + return true; // we only have insertions + else if (numberOfBases == 0) + return false; // we don't have anything + + // if we have bases and insertions, check the ratio + return ((double) insertionsToTheRight / numberOfBases) > minIndelProportion; + } + + /** + * Whether or not the HeaderElement is variant due to excess deletions + * + * @return whether or not the HeaderElement is variant due to excess insertions + */ + private boolean isVariantFromDeletions(double minIndelProportion) { + return consensusBaseCounts.baseIndexWithMostCounts() == BaseIndex.D || consensusBaseCounts.baseCountProportion(BaseIndex.D) > minIndelProportion; + } + + /** + * Whether or not the HeaderElement is variant due to excess mismatches + * + * @return whether or not the HeaderElement is variant due to excess insertions + */ + private boolean isVariantFromMismatches(double minVariantProportion) { + BaseIndex mostCommon = consensusBaseCounts.baseIndexWithMostCountsWithoutIndels(); + double mostCommonProportion = consensusBaseCounts.baseCountProportionWithoutIndels(mostCommon); + return mostCommonProportion != 0.0 && mostCommonProportion < (1 - minVariantProportion); + } + + /** + * This handles the special case where we have more bases that came from soft clips than bases that came from + * normal bases by forcing it to become a variant region. We don't want a consensus based on too little information. + * + * @return true if we had more soft clipped bases contributing to this site than matches/mismatches. + */ + private boolean isVariantFromSoftClips() { + return nSoftClippedBases >= (consensusBaseCounts.totalCount() - nSoftClippedBases); + } + + private boolean basePassesFilters(byte baseQual, int minBaseQual, int baseMappingQuality, int minMappingQual) { + return baseQual >= minBaseQual && baseMappingQuality >= minMappingQual; + } + + +} \ No newline at end of file diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/MultiSampleCompressor.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/MultiSampleCompressor.java new file mode 100644 index 000000000..44971ca38 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/MultiSampleCompressor.java @@ -0,0 +1,81 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import net.sf.samtools.SAMFileHeader; +import org.apache.log4j.Logger; +import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.sam.AlignmentStartWithNoTiesComparator; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; + +import java.util.HashMap; +import java.util.Map; +import java.util.SortedSet; +import java.util.TreeSet; + +/* + * Copyright (c) 2009 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +/** + * + * @author depristo + */ +public class MultiSampleCompressor implements Compressor { + protected static final Logger logger = Logger.getLogger(MultiSampleCompressor.class); + + protected Map compressorsPerSample = new HashMap(); + + public MultiSampleCompressor(SAMFileHeader header, + final int contextSize, + final int downsampleCoverage, + final int minMappingQuality, + final double minAltProportionToTriggerVariant, + final double minIndelProportionToTriggerVariant, + final int minBaseQual, + final ReduceReads.DownsampleStrategy downsampleStrategy) { + for ( String name : SampleUtils.getSAMFileSamples(header) ) { + compressorsPerSample.put(name, + new SingleSampleCompressor(name, contextSize, downsampleCoverage, + minMappingQuality, minAltProportionToTriggerVariant, minIndelProportionToTriggerVariant, minBaseQual, downsampleStrategy)); + } + } + + @Override + public Iterable addAlignment(GATKSAMRecord read) { + String sample = read.getReadGroup().getSample(); + SingleSampleCompressor compressor = compressorsPerSample.get(sample); + if ( compressor == null ) + throw new ReviewedStingException("No compressor for sample " + sample); + return compressor.addAlignment(read); + } + + @Override + public Iterable close() { + SortedSet reads = new TreeSet(new AlignmentStartWithNoTiesComparator()); + for ( SingleSampleCompressor comp : compressorsPerSample.values() ) + for ( GATKSAMRecord read : comp.close() ) + reads.add(read); + return reads; + } +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReads.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReads.java new file mode 100644 index 000000000..d793ae159 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReads.java @@ -0,0 +1,678 @@ +/* + * Copyright (c) 2010 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import net.sf.samtools.Cigar; +import net.sf.samtools.CigarElement; +import net.sf.samtools.CigarOperator; +import net.sf.samtools.util.SequenceUtil; +import org.broadinstitute.sting.commandline.Argument; +import org.broadinstitute.sting.commandline.Hidden; +import org.broadinstitute.sting.commandline.Output; +import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.filters.*; +import org.broadinstitute.sting.gatk.io.StingSAMFileWriter; +import org.broadinstitute.sting.gatk.refdata.ReadMetaDataTracker; +import org.broadinstitute.sting.gatk.walkers.PartitionBy; +import org.broadinstitute.sting.gatk.walkers.PartitionType; +import org.broadinstitute.sting.gatk.walkers.ReadFilters; +import org.broadinstitute.sting.gatk.walkers.ReadWalker; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.GenomeLocComparator; +import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.clipping.ReadClipper; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.sam.ReadUtils; + +import java.util.*; + +/** + * Reduces the BAM file using read based compression that keeps only essential information for variant calling + *

+ *

+ * This walker will generated reduced versions of the BAM files that still follow the BAM spec + * and contain all the information necessary for the GSA variant calling pipeline. Some options + * allow you to tune in how much compression you want to achieve. The default values have been + * shown to reduce a typical whole exome BAM file 100x. The higher the coverage, the bigger the + * savings in file size and performance of the downstream tools. + *

+ *

Input

+ *

+ * The BAM file to be compressed + *

+ *

+ *

Output

+ *

+ * The compressed (reduced) BAM file. + *

+ *

+ *

Examples

+ *
+ * java -Xmx4g -jar GenomeAnalysisTK.jar \
+ *   -R ref.fasta \
+ *   -T ReduceReads \
+ *   -I myData.bam \
+ *   -o myData.reduced.bam
+ * 
+ */ + +@PartitionBy(PartitionType.INTERVAL) +@ReadFilters({UnmappedReadFilter.class, NotPrimaryAlignmentFilter.class, DuplicateReadFilter.class, FailsVendorQualityCheckFilter.class, BadCigarFilter.class}) +public class ReduceReads extends ReadWalker, ReduceReadsStash> { + + @Output + protected StingSAMFileWriter out; + + /** + * The number of bases to keep around mismatches (potential variation) + */ + @Argument(fullName = "context_size", shortName = "cs", doc = "", required = false) + protected int contextSize = 10; + + /** + * The minimum mapping quality to be considered for the consensus synthetic read. Reads that have + * mapping quality below this threshold will not be counted towards consensus, but are still counted + * towards variable regions. + */ + @Argument(fullName = "minimum_mapping_quality", shortName = "minmap", doc = "", required = false) + protected int minMappingQuality = 20; + + /** + * The minimum base quality to be considered for the consensus synthetic read. Reads that have + * base quality below this threshold will not be counted towards consensus, but are still counted + * towards variable regions. + */ + @Argument(fullName = "minimum_base_quality_to_consider", shortName = "minqual", doc = "", required = false) + protected byte minBaseQual = 20; + + /** + * Reads have notoriously low quality bases on the tails (left and right). Consecutive bases with quality + * lower than this threshold will be hard clipped off before entering the reduce reads algorithm. + */ + @Argument(fullName = "minimum_tail_qualities", shortName = "mintail", doc = "", required = false) + protected byte minTailQuality = 2; + + /** + * Do not simplify read (strip away all extra information of the read -- anything other than bases, quals + * and read group). + */ + @Argument(fullName = "dont_simplify_reads", shortName = "nosimplify", doc = "", required = false) + protected boolean DONT_SIMPLIFY_READS = false; + + /** + * Do not hard clip adaptor sequences. Note: You don't have to turn this on for reads that are not mate paired. + * The program will behave correctly in those cases. + */ + @Argument(fullName = "dont_hardclip_adaptor_sequences", shortName = "noclip_ad", doc = "", required = false) + protected boolean DONT_CLIP_ADAPTOR_SEQUENCES = false; + + /** + * Do not hard clip the low quality tails of the reads. This option overrides the argument of minimum tail + * quality. + */ + @Argument(fullName = "dont_hardclip_low_qual_tails", shortName = "noclip_tail", doc = "", required = false) + protected boolean DONT_CLIP_LOW_QUAL_TAILS = false; + + /** + * Do not use high quality soft-clipped bases. By default, ReduceReads will hard clip away any low quality soft clipped + * base left by the aligner and use the high quality soft clipped bases in it's traversal algorithm to identify variant + * regions. The minimum quality for soft clipped bases is the same as the minimum base quality to consider (minqual) + */ + @Argument(fullName = "dont_use_softclipped_bases", shortName = "no_soft", doc = "", required = false) + protected boolean DONT_USE_SOFTCLIPPED_BASES = false; + + /** + * Do not compress read names. By default, ReduceReads will compress read names to numbers and guarantee + * uniqueness and reads with similar name will still have similar compressed names. Note: If you scatter/gather + * there is no guarantee that read name uniqueness will be maintained -- in this case we recommend not compressing. + */ + @Argument(fullName = "dont_compress_read_names", shortName = "nocmp_names", doc = "", required = false) + protected boolean DONT_COMPRESS_READ_NAMES = false; + + /** + * Optionally hard clip all incoming reads to the desired intervals. The hard clips will happen exactly at the interval + * border. + */ + @Argument(fullName = "hard_clip_to_interval", shortName = "clip_int", doc = "", required = false) + protected boolean HARD_CLIP_TO_INTERVAL = false; + + /** + * Minimum proportion of mismatches in a site to trigger a variant region. Anything below this will be + * considered consensus. + */ + @Argument(fullName = "minimum_alt_proportion_to_trigger_variant", shortName = "minvar", doc = "", required = false) + protected double minAltProportionToTriggerVariant = 0.05; + + /** + * Minimum proportion of indels in a site to trigger a variant region. Anything below this will be + * considered consensus. + */ + @Argument(fullName = "minimum_del_proportion_to_trigger_variant", shortName = "mindel", doc = "", required = false) + protected double minIndelProportionToTriggerVariant = 0.05; + + /** + * Downsamples the coverage of a variable region approximately (guarantees the minimum to be equal to this). + * A value of 0 turns downsampling off. + */ + @Argument(fullName = "downsample_coverage", shortName = "ds", doc = "", required = false) + protected int downsampleCoverage = 0; + + @Hidden + @Argument(fullName = "", shortName = "dl", doc = "", required = false) + protected int debugLevel = 0; + + @Hidden + @Argument(fullName = "", shortName = "dr", doc = "", required = false) + protected String debugRead = ""; + + @Hidden + @Argument(fullName = "downsample_strategy", shortName = "dm", doc = "", required = false) + protected DownsampleStrategy downsampleStrategy = DownsampleStrategy.Normal; + + @Hidden + @Argument(fullName = "no_pg_tag", shortName = "npt", doc ="", required = false) + private boolean NO_PG_TAG = false; + + public enum DownsampleStrategy { + Normal, + Adaptive + } + + protected int totalReads = 0; + int nCompressedReads = 0; + + HashMap readNameHash; // This hash will keep the name of the original read the new compressed name (a number). + Long nextReadNumber = 1L; // The next number to use for the compressed read name. + + SortedSet intervalList; + + private static final String PROGRAM_RECORD_NAME = "GATK ReduceReads"; // The name that will go in the @PG tag + + /** + * Basic generic initialization of the readNameHash and the intervalList. Output initialization + * is done at the reduceInit method + */ + @Override + public void initialize() { + super.initialize(); + GenomeAnalysisEngine toolkit = getToolkit(); + readNameHash = new HashMap(); // prepare the read name hash to keep track of what reads have had their read names compressed + intervalList = new TreeSet(new GenomeLocComparator()); // get the interval list from the engine. If no interval list was provided, the walker will work in WGS mode + + if (toolkit.getIntervals() != null) + intervalList.addAll(toolkit.getIntervals()); + + if (!NO_PG_TAG) + Utils.setupWriter(out, toolkit, false, true, this, PROGRAM_RECORD_NAME); + else + out.setPresorted(false); + } + + /** + * Takes in a read and prepares it for the SlidingWindow machinery by performing the + * following optional clipping operations: + * 1. Hard clip adaptor sequences + * 2. Hard clip low quality tails + * 3. Hard clip all remaining soft clipped bases + * 4. Hard clip read to the intervals in the interval list (this step may produce multiple reads) + * + * @param ref default map parameter + * @param read default map parameter + * @param metaDataTracker default map parameter + * @return a linked list with all the reads produced by the clipping operations + */ + @Override + public LinkedList map(ReferenceContext ref, GATKSAMRecord read, ReadMetaDataTracker metaDataTracker) { + LinkedList mappedReads; + totalReads++; + if (!debugRead.isEmpty() && read.getReadName().contains(debugRead)) + System.out.println("Found debug read!"); + + if (debugLevel == 1) + System.out.printf("\nOriginal: %s %s %d %d\n", read, read.getCigar(), read.getAlignmentStart(), read.getAlignmentEnd()); + + // we write the actual alignment starts to their respectiv alignment shift tags in the temporary + // attribute hash so we can determine later if we need to write down the alignment shift to the reduced BAM file + read.setTemporaryAttribute(GATKSAMRecord.REDUCED_READ_ORIGINAL_ALIGNMENT_START_SHIFT, read.getAlignmentStart()); + read.setTemporaryAttribute(GATKSAMRecord.REDUCED_READ_ORIGINAL_ALIGNMENT_END_SHIFT, read.getAlignmentEnd()); + + if (!DONT_SIMPLIFY_READS) + read.simplify(); // Clear all unnecessary attributes + if (!DONT_CLIP_ADAPTOR_SEQUENCES) + read = ReadClipper.hardClipAdaptorSequence(read); // Strip away adaptor sequences, if any. + if (!DONT_CLIP_LOW_QUAL_TAILS) + read = ReadClipper.hardClipLowQualEnds(read, minTailQuality); // Clip low quality tails + if (!isWholeGenome()) { + if (HARD_CLIP_TO_INTERVAL) + mappedReads = hardClipReadToInterval(read); // Hard clip the remainder of the read to the desired interval + else { + mappedReads = new LinkedList(); + mappedReads.add(read); + } + } + else { + mappedReads = new LinkedList(); + if (!read.isEmpty()) + mappedReads.add(read); + } + + if (!mappedReads.isEmpty() && !DONT_USE_SOFTCLIPPED_BASES) { + LinkedList tempList = new LinkedList(); + for (GATKSAMRecord mRead : mappedReads) { + GATKSAMRecord clippedRead = ReadClipper.hardClipLowQualitySoftClips(mRead, minBaseQual); + if (!clippedRead.isEmpty()) + tempList.add(clippedRead); + } + mappedReads = tempList; + } + + if (debugLevel == 1) + for (GATKSAMRecord mappedRead : mappedReads) + System.out.printf("MAPPED: %s %d %d\n", mappedRead.getCigar(), mappedRead.getAlignmentStart(), mappedRead.getAlignmentEnd()); + + return mappedReads; + + } + + /** + * Initializes the ReduceReadsStash that keeps track of all reads that are waiting to + * enter the SlidingWindow machinery. The stash makes sure reads are served in order + * even though map() may generate reads that are only supposed to enter the machinery + * in the future. + * + * @return the empty stash + */ + @Override + public ReduceReadsStash reduceInit() { + return new ReduceReadsStash(new MultiSampleCompressor(getToolkit().getSAMFileHeader(), contextSize, downsampleCoverage, minMappingQuality, minAltProportionToTriggerVariant, minIndelProportionToTriggerVariant, minBaseQual, downsampleStrategy)); + } + + /** + * Takes the list of reads produced by map(), adds them to the stash (which keeps them sorted) and process + * all reads that come before the original read (the read that was passed to map) including the original + * read. This is where we send reads, in order, to the SlidingWindow machinery. + * + * @param mappedReads the list of reads sent by map + * @param stash the stash that keeps the reads in order for processing + * @return the stash with all reads that have not been processed yet + */ + public ReduceReadsStash reduce(LinkedList mappedReads, ReduceReadsStash stash) { + if (debugLevel == 1) + stash.print(); + + boolean firstRead = true; + for (GATKSAMRecord read : mappedReads) { + boolean originalRead = firstRead && isOriginalRead(mappedReads, read); + + if (read.getReadLength() == 0) + throw new ReviewedStingException("Empty read sent to reduce, this should never happen! " + read.getReadName() + " -- " + read.getCigar() + " -- " + read.getReferenceName() + ":" + read.getAlignmentStart() + "-" + read.getAlignmentEnd()); + + if (originalRead) { + List readsReady = new LinkedList(); + readsReady.addAll(stash.getAllReadsBefore(read)); + readsReady.add(read); + + for (GATKSAMRecord readReady : readsReady) { + if (debugLevel == 1) + System.out.println("REDUCE: " + readReady.getCigar() + " " + readReady.getAlignmentStart() + " " + readReady.getAlignmentEnd()); + + for (GATKSAMRecord compressedRead : stash.compress(readReady)) + outputRead(compressedRead); + + } + } else + stash.add(read); + + firstRead = false; + } + + return stash; + } + + /** + * Now that now more reads will come, we process all the remaining reads in the stash, in order. + * + * @param stash the ReduceReadsStash with all unprocessed reads (from reduce) + */ + @Override + public void onTraversalDone(ReduceReadsStash stash) { + + // output any remaining reads in the compressor + for (GATKSAMRecord read : stash.close()) + outputRead(read); + } + + /** + * Hard clips away all parts of the read that doesn't agree with the intervals selected. + * + * Note: If read overlaps more than one interval, it will be hard clipped to all + * the intervals it overlaps with + * + * @param read the read to be hard clipped to the interval. + * @return a shallow copy of the read hard clipped to the interval + */ + private LinkedList hardClipReadToInterval(GATKSAMRecord read) { + LinkedList clippedReads = new LinkedList(); + + GenomeLoc intervalOverlapped = null; // marks the interval to which the original read overlapped (so we can cut all previous intervals from the list) + + boolean originalRead = true; // false if this is the right tail of the original read + boolean overlap; // keeps track of the interval that overlapped the original read + boolean doneClipping; // triggers an early exit if we are done clipping this read + + if (isWholeGenome()) + clippedReads.add(read); // if we don't have intervals (wgs) the read goes in unchanged + + for (GenomeLoc interval : intervalList) { + + if (read.isEmpty()) // nothing to do with an empty read (could have been fully clipped before) + break; + + GATKSAMRecord clippedRead = null; // this will hold the read clipped to the interval to be added in the end of the switch + + switch (ReadUtils.getReadAndIntervalOverlapType(read, interval)) { + case NO_OVERLAP_RIGHT: // no reads on this interval, check the next interval if this is the original read + if (!originalRead) // something went wrong if this is the tail of the read + throw new ReviewedStingException("tail of the read should never NO_OVERLAP_RIGHT the following interval. " + read.getReadName() + " -- " + read.getReferenceName() + ":" + read.getAlignmentStart() + "-" + read.getAlignmentEnd() + " x " + interval.getLocation().toString()); + overlap = false; + doneClipping = false; + break; + + + case NO_OVERLAP_HARDCLIPPED_RIGHT: // read used to overlap but got hard clipped and doesn't overlap anymore + if (originalRead) { + overlap = true; // effectively, we have found the read's location and now we are going to try and match it's tail (which happens to be the entire read). + clippedRead = GATKSAMRecord.emptyRead(read); + } else + overlap = false; + + doneClipping = false; + break; + + case NO_OVERLAP_CONTIG: // read is in a different contig + if (originalRead) { // the original read can be in a bigger contig, but not on a smaller one. + if (read.getReferenceIndex() < interval.getContigIndex()) + throw new ReviewedStingException("read is behind interval list. (contig) " + read.getReadName() + " -- " + read.getReferenceName() + ":" + read.getAlignmentStart() + "-" + read.getAlignmentEnd() + " x " + interval.getLocation().toString()); + else { + overlap = false; + doneClipping = false; + } + } // tail read CANNOT be in a different contig. + else { + if (read.getReferenceIndex() < interval.getContigIndex()) { + overlap = false; + doneClipping = true; + } else + throw new ReviewedStingException("Tail read is in bigger contig than interval traversal. " + read.getReadName() + " -- " + read.getReferenceName() + ":" + read.getAlignmentStart() + "-" + read.getAlignmentEnd() + " x " + interval.getLocation().toString()); + + } + break; + + case NO_OVERLAP_LEFT: + if (originalRead) // if this is the first read this should never happen. + throw new ReviewedStingException("original read cannot be behind the first interval. (position) " + read.getReadName() + " -- " + read.getReferenceName() + ":" + read.getAlignmentStart() + "-" + read.getAlignmentEnd() + " x " + interval.getLocation().toString()); + + overlap = false; + doneClipping = true; + break; + + case NO_OVERLAP_HARDCLIPPED_LEFT: // read used to overlap but got hard clipped and doesn't overlap anymore + overlap = originalRead; // if this is the original read, we should not advance the interval list, the original overlap was here. + doneClipping = true; + break; + + case OVERLAP_LEFT: // clip the left tail of the read + clippedRead = ReadClipper.hardClipByReferenceCoordinatesLeftTail(read, interval.getStart() - 1); + + overlap = true; + doneClipping = true; + break; + + case OVERLAP_RIGHT: // clip the right tail of the read and try to match it to the next interval + clippedRead = ReadClipper.hardClipByReferenceCoordinatesRightTail(read, interval.getStop() + 1); + read = ReadClipper.hardClipByReferenceCoordinatesLeftTail(read, interval.getStop()); + + overlap = true; + doneClipping = false; + break; + + case OVERLAP_LEFT_AND_RIGHT: // clip both left and right ends of the read + clippedRead = ReadClipper.hardClipBothEndsByReferenceCoordinates(read, interval.getStart() - 1, interval.getStop() + 1); + read = ReadClipper.hardClipByReferenceCoordinatesLeftTail(read, interval.getStop()); + + overlap = true; + doneClipping = false; + break; + + case OVERLAP_CONTAINED: // don't do anything to the read + clippedRead = read; + + overlap = true; + doneClipping = true; + break; + + default: + throw new ReviewedStingException("interval overlap returned an unknown / unhandled state. If new state was added to intervalOverlap, it should be handled by hardClipReadToInterval."); + } + + if (overlap && originalRead) + intervalOverlapped = interval; + + if (clippedRead != null) { + originalRead = false; + + if (!clippedRead.isEmpty()) + clippedReads.add(clippedRead); // if the read overlaps the interval entirely within a deletion, it will be entirely clipped off + } + + if (doneClipping) + break; + } + + if (intervalOverlapped != null) + intervalList = intervalList.tailSet(intervalOverlapped); + + return clippedReads; + } + + /** + * Compresses the read name and adds it to output BAM file (reduced BAM) + * after performing some quality control + * + * @param read any read + */ + private void outputRead(GATKSAMRecord read) { + if (debugLevel == 2) { + checkForHighMismatch(read); + checkCigar(read); + } + + if (read.isReducedRead()) + nCompressedReads++; + else { + int originalAlignmentStart = (Integer) read.getTemporaryAttribute(GATKSAMRecord.REDUCED_READ_ORIGINAL_ALIGNMENT_START_SHIFT); + int originalAlignmentEnd = (Integer) read.getTemporaryAttribute(GATKSAMRecord.REDUCED_READ_ORIGINAL_ALIGNMENT_END_SHIFT); + + int startShift = originalAlignmentStart - read.getUnclippedStart(); // we annotate the shifts for better compression + int endShift = read.getUnclippedEnd() - originalAlignmentEnd; // we annotate the shifts for better compression + + if (startShift > 0) + read.setAttribute(GATKSAMRecord.REDUCED_READ_ORIGINAL_ALIGNMENT_START_SHIFT, startShift); // If the read had any soft clips before getting chopped (variant region) annotate it's original alignment (start) + if (endShift > 0) + read.setAttribute(GATKSAMRecord.REDUCED_READ_ORIGINAL_ALIGNMENT_END_SHIFT, endShift); // If the read had any soft clips before getting chopped (variant region) annotate it's original alignment (end) + + totalReads++; + } + + if (debugLevel == 1) + System.out.println("BAM: " + read.getCigar() + " " + read.getAlignmentStart() + " " + read.getAlignmentEnd()); + +// if (!DONT_USE_SOFTCLIPPED_BASES) +// reSoftClipBases(read); + + if (!DONT_COMPRESS_READ_NAMES) + compressReadName(read); + + out.addAlignment(read); + } + + private void reSoftClipBases(GATKSAMRecord read) { + Integer left = (Integer) read.getTemporaryAttribute("SL"); + Integer right = (Integer) read.getTemporaryAttribute("SR"); + if (left != null || right != null) { + Cigar newCigar = new Cigar(); + for (CigarElement element : read.getCigar().getCigarElements()) { + newCigar.add(new CigarElement(element.getLength(), element.getOperator())); + } + + if (left != null) { + newCigar = updateFirstSoftClipCigarElement(left, newCigar); + read.setAlignmentStart(read.getAlignmentStart() + left); + } + + if (right != null) { + Cigar invertedCigar = invertCigar(newCigar); + newCigar = invertCigar(updateFirstSoftClipCigarElement(right, invertedCigar)); + } + read.setCigar(newCigar); + } + } + + /** + * Facility routine to revert the first element of a Cigar string (skipping hard clips) into a soft-clip. + * To be used on both ends if provided a flipped Cigar + * + * @param softClipSize the length of the soft clipped element to add + * @param originalCigar the original Cigar string + * @return a new Cigar object with the soft clips added + */ + private Cigar updateFirstSoftClipCigarElement (int softClipSize, Cigar originalCigar) { + Cigar result = new Cigar(); + CigarElement leftElement = new CigarElement(softClipSize, CigarOperator.S); + boolean updated = false; + for (CigarElement element : originalCigar.getCigarElements()) { + if (!updated && element.getOperator() == CigarOperator.M) { + result.add(leftElement); + int newLength = element.getLength() - softClipSize; + if (newLength > 0) + result.add(new CigarElement(newLength, CigarOperator.M)); + updated = true; + } + else + result.add(element); + } + return result; + } + + /** + * Given a cigar string, returns the inverted cigar string. + * + * @param cigar the original cigar + * @return the inverted cigar + */ + private Cigar invertCigar(Cigar cigar) { + Stack stack = new Stack(); + for (CigarElement e : cigar.getCigarElements()) + stack.push(e); + Cigar inverted = new Cigar(); + while (!stack.empty()) { + inverted.add(stack.pop()); + } + return inverted; + } + + + /** + * Quality control procedure that checks if the consensus reads contains too many + * mismatches with the reference. This should never happen and is a good trigger for + * errors with the algorithm. + * + * @param read any read + */ + private void checkForHighMismatch(GATKSAMRecord read) { + final int start = read.getAlignmentStart(); + final int stop = read.getAlignmentEnd(); + final byte[] ref = getToolkit().getReferenceDataSource().getReference().getSubsequenceAt(read.getReferenceName(), start, stop).getBases(); + final int nm = SequenceUtil.countMismatches(read, ref, start - 1); + final int readLen = read.getReadLength(); + final double nmFraction = nm / (1.0 * readLen); + if (nmFraction > 0.4 && readLen > 20 && read.getAttribute(GATKSAMRecord.REDUCED_READ_CONSENSUS_TAG) != null && read.getReadName().startsWith("Consensus")) + throw new ReviewedStingException("BUG: High mismatch fraction found in read " + read.getReadName() + " position: " + read.getReferenceName() + ":" + read.getAlignmentStart() + "-" + read.getAlignmentEnd()); + } + + private void checkCigar (GATKSAMRecord read) { + if (read.getCigar().isValid(null, -1) != null) { + throw new ReviewedStingException("BUG: cigar string is not valid: " + read.getCigarString()); + } + + } + + + /** + * Compresses the read name using the readNameHash if we have already compressed + * this read name before. + * + * @param read any read + */ + private void compressReadName(GATKSAMRecord read) { + String name = read.getReadName(); + String compressedName = read.isReducedRead() ? "C" : ""; + if (readNameHash.containsKey(name)) + compressedName += readNameHash.get(name).toString(); + else { + readNameHash.put(name, nextReadNumber); + compressedName += nextReadNumber.toString(); + nextReadNumber++; + } + + read.setReadName(compressedName); + } + + /** + * Returns true if the read is the original read that went through map(). + * + * This is important to know so we can decide what reads to pull from the stash. Only reads that came before the original read should be pulled. + * + * @param list the list + * @param read the read + * @return Returns true if the read is the original read that went through map(). + */ + private boolean isOriginalRead(LinkedList list, GATKSAMRecord read) { + return isWholeGenome() || list.getFirst().equals(read); + } + + /** + * Checks whether or not the intervalList is empty, meaning we're running in WGS mode. + * + * @return whether or not we're running in WGS mode. + */ + private boolean isWholeGenome() { + return intervalList.isEmpty(); + } + +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsStash.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsStash.java new file mode 100644 index 000000000..593047504 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsStash.java @@ -0,0 +1,110 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import org.broadinstitute.sting.utils.sam.AlignmentStartWithNoTiesComparator; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.sam.ReadUtils; + +import java.util.LinkedList; +import java.util.List; +import java.util.SortedSet; +import java.util.TreeSet; + +/** + * This class implements a "read stash" that keeps reads always sorted in alignment order. Useful + * for read walkers that alter the alignment information of the incoming reads, but need to + * maintain the reads sorted for the reduce step. (e.g. ReduceReads) + */ + +public class ReduceReadsStash { + protected MultiSampleCompressor compressor; + SortedSet outOfOrderReads; + + /** + * Creates a stash with the default sorting order (read alignment) + * @param compressor the MultiSampleCompressor object to be used with this stash (for stash.close()) + */ + public ReduceReadsStash(MultiSampleCompressor compressor) { + this.compressor = compressor; + this.outOfOrderReads = new TreeSet(new AlignmentStartWithNoTiesComparator()); + } + + /** + * Get all reads before a given read (for processing) + * + * @param read the original read + * @return all reads that have alignment start before the original read. + */ + public List getAllReadsBefore(GATKSAMRecord read) { + List result = new LinkedList(); + GATKSAMRecord newHead = null; + + for (GATKSAMRecord stashedRead : outOfOrderReads) { + if (ReadUtils.compareSAMRecords(stashedRead, read) <= 0) + result.add(stashedRead); + else { + newHead = stashedRead; + break; + } + } + + if (result.size() > 0) { + if (result.size() == outOfOrderReads.size()) + outOfOrderReads.clear(); + else + outOfOrderReads = new TreeSet(outOfOrderReads.tailSet(newHead)); + } + + return result; + } + + /** + * sends the read to the MultiSampleCompressor + * + * @param read the read to be compressed + * @return any compressed reads that may have resulted from adding this read to the machinery (due to the sliding window) + */ + public Iterable compress(GATKSAMRecord read) { + return compressor.addAlignment(read); + } + + /** + * Add a read to the stash + * + * @param read any read + */ + public void add(GATKSAMRecord read) { + outOfOrderReads.add(read); + } + + /** + * Close the stash, processing all remaining reads in order + * + * @return a list of all the reads produced by the SlidingWindow machinery) + */ + public Iterable close() { + LinkedList result = new LinkedList(); + + // compress all the stashed reads (in order) + for (GATKSAMRecord read : outOfOrderReads) + for (GATKSAMRecord compressedRead : compressor.addAlignment(read)) + result.add(compressedRead); + + // output any remaining reads from the compressor + for (GATKSAMRecord read : compressor.close()) + result.add(read); + + return result; + } + + /** + * Useful debug functionality, outputs all elements in the stash + */ + public void print() { + int i = 1; + System.out.println("Stash Contents:"); + for (GATKSAMRecord read : outOfOrderReads) + System.out.println(String.format("%3d: %s %d %d", i++, read.getCigarString(), read.getAlignmentStart(), read.getAlignmentEnd())); + System.out.println(); + } + +} \ No newline at end of file diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SingleSampleCompressor.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SingleSampleCompressor.java new file mode 100644 index 000000000..6d2c2d215 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SingleSampleCompressor.java @@ -0,0 +1,83 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import org.apache.log4j.Logger; +import org.broadinstitute.sting.utils.sam.AlignmentStartWithNoTiesComparator; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; + +import java.util.TreeSet; + +/** + * + * @author depristo + * @version 0.1 + */ +public class SingleSampleCompressor implements Compressor { + protected static final Logger logger = Logger.getLogger(SingleSampleCompressor.class); + + protected final int contextSize; + protected final int downsampleCoverage; + protected int minMappingQuality; + protected int slidingWindowCounter; + + protected final String sampleName; + + protected SlidingWindow slidingWindow; + protected double minAltProportionToTriggerVariant; + protected double minIndelProportionToTriggerVariant; + protected int minBaseQual; + + protected ReduceReads.DownsampleStrategy downsampleStrategy; + + public SingleSampleCompressor(final String sampleName, + final int contextSize, + final int downsampleCoverage, + final int minMappingQuality, + final double minAltProportionToTriggerVariant, + final double minIndelProportionToTriggerVariant, + final int minBaseQual, + final ReduceReads.DownsampleStrategy downsampleStrategy) { + this.sampleName = sampleName; + this.contextSize = contextSize; + this.downsampleCoverage = downsampleCoverage; + this.minMappingQuality = minMappingQuality; + this.slidingWindowCounter = 0; + this.minAltProportionToTriggerVariant = minAltProportionToTriggerVariant; + this.minIndelProportionToTriggerVariant = minIndelProportionToTriggerVariant; + this.minBaseQual = minBaseQual; + this.downsampleStrategy = downsampleStrategy; + } + + /** + * @{inheritDoc} + */ + @Override + public Iterable addAlignment( GATKSAMRecord read ) { + TreeSet result = new TreeSet(new AlignmentStartWithNoTiesComparator()); + int readOriginalStart = read.getUnclippedStart(); + + // create a new window if: + if ((slidingWindow != null) && + ( ( read.getReferenceIndex() != slidingWindow.getContigIndex() ) || // this is a brand new contig + (readOriginalStart - contextSize > slidingWindow.getStopLocation()))) { // this read is too far away from the end of the current sliding window + + // close the current sliding window + result.addAll(slidingWindow.close()); + slidingWindow = null; // so we create a new one on the next if + } + + if ( slidingWindow == null) { // this is the first read + slidingWindow = new SlidingWindow(read.getReferenceName(), read.getReferenceIndex(), contextSize, read.getHeader(), read.getReadGroup(), slidingWindowCounter, minAltProportionToTriggerVariant, minIndelProportionToTriggerVariant, minBaseQual, minMappingQuality, downsampleCoverage, downsampleStrategy, read.hasBaseIndelQualities()); + slidingWindowCounter++; + } + + result.addAll(slidingWindow.addRead(read)); + return result; + } + + @Override + public Iterable close() { + return (slidingWindow != null) ? slidingWindow.close() : new TreeSet(); + } + +} + diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SlidingWindow.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SlidingWindow.java new file mode 100644 index 000000000..60d7096a3 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SlidingWindow.java @@ -0,0 +1,713 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import com.google.java.contract.Requires; +import net.sf.samtools.Cigar; +import net.sf.samtools.CigarElement; +import net.sf.samtools.CigarOperator; +import net.sf.samtools.SAMFileHeader; +import org.broadinstitute.sting.gatk.downsampling.FractionalDownsampler; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.sam.ReadUtils; + +import java.util.Iterator; +import java.util.LinkedList; +import java.util.List; +import java.util.ListIterator; + +/** + * Created by IntelliJ IDEA. + * User: roger + * Date: 8/3/11 + * Time: 2:24 PM + */ +public class SlidingWindow { + + // Sliding Window data + final private LinkedList readsInWindow; + final private LinkedList windowHeader; + protected int contextSize; // the largest context size (between mismatches and indels) + protected int stopLocation; + protected String contig; + protected int contigIndex; + protected SAMFileHeader header; + protected GATKSAMReadGroupRecord readGroupAttribute; + protected int downsampleCoverage; + + // Running consensus data + protected SyntheticRead runningConsensus; + protected int consensusCounter; + protected String consensusReadName; + + // Filtered Data Consensus data + protected SyntheticRead filteredDataConsensus; + protected int filteredDataConsensusCounter; + protected String filteredDataReadName; + + + // Additional parameters + protected double MIN_ALT_BASE_PROPORTION_TO_TRIGGER_VARIANT; // proportion has to be greater than this value to trigger variant region due to mismatches + protected double MIN_INDEL_BASE_PROPORTION_TO_TRIGGER_VARIANT; // proportion has to be greater than this value to trigger variant region due to deletions + protected int MIN_BASE_QUAL_TO_COUNT; // qual has to be greater than or equal to this value + protected int MIN_MAPPING_QUALITY; + + protected ReduceReads.DownsampleStrategy downsampleStrategy; + private boolean hasIndelQualities; + + /** + * The types of synthetic reads to use in the finalizeAndAdd method + */ + private enum ConsensusType { + CONSENSUS, + FILTERED, + BOTH + } + + public int getStopLocation() { + return stopLocation; + } + + public String getContig() { + return contig; + } + + public int getContigIndex() { + return contigIndex; + } + + public int getStartLocation() { + return windowHeader.isEmpty() ? -1 : windowHeader.peek().getLocation(); + } + + + public SlidingWindow(String contig, int contigIndex, int contextSize, SAMFileHeader header, GATKSAMReadGroupRecord readGroupAttribute, int windowNumber, final double minAltProportionToTriggerVariant, final double minIndelProportionToTriggerVariant, int minBaseQual, int minMappingQuality, int downsampleCoverage, final ReduceReads.DownsampleStrategy downsampleStrategy, boolean hasIndelQualities) { + this.stopLocation = -1; + this.contextSize = contextSize; + this.downsampleCoverage = downsampleCoverage; + + this.MIN_ALT_BASE_PROPORTION_TO_TRIGGER_VARIANT = minAltProportionToTriggerVariant; + this.MIN_INDEL_BASE_PROPORTION_TO_TRIGGER_VARIANT = minIndelProportionToTriggerVariant; + this.MIN_BASE_QUAL_TO_COUNT = minBaseQual; + this.MIN_MAPPING_QUALITY = minMappingQuality; + + this.windowHeader = new LinkedList(); + this.readsInWindow = new LinkedList(); + + this.contig = contig; + this.contigIndex = contigIndex; + this.header = header; + this.readGroupAttribute = readGroupAttribute; + + this.consensusCounter = 0; + this.consensusReadName = "Consensus-" + windowNumber + "-"; + + this.filteredDataConsensusCounter = 0; + this.filteredDataReadName = "Filtered-" + windowNumber + "-"; + + this.runningConsensus = null; + this.filteredDataConsensus = null; + + this.downsampleStrategy = downsampleStrategy; + this.hasIndelQualities = hasIndelQualities; + } + + /** + * Add a read to the sliding window and slides the window accordingly. + * + * Reads are assumed to be in order, therefore, when a read is added the sliding window can + * assume that no more reads will affect read.getUnclippedStart() - contextSizeMismatches. The window + * slides forward to that position and returns all reads that may have been finalized in the + * sliding process. + * + * @param read the read + * @return a list of reads that have been finished by sliding the window. + */ + public List addRead(GATKSAMRecord read) { + updateHeaderCounts(read, false); // update the window header counts + readsInWindow.add(read); // add read to sliding reads + return slideWindow(read.getUnclippedStart()); + } + + /** + * returns the next complete or incomplete variant region between 'from' (inclusive) and 'to' (exclusive) + * + * @param from beginning window header index of the search window (inclusive) + * @param to end window header index of the search window (exclusive) + * @param variantSite boolean array with true marking variant regions + * @return null if nothing is variant, start/stop if there is a complete variant region, start/-1 if there is an incomplete variant region. + */ + private Pair getNextVariantRegion(int from, int to, boolean[] variantSite) { + boolean foundStart = false; + int variantRegionStartIndex = 0; + for (int i=from; i(variantRegionStartIndex, i-1)); + } + } + return (foundStart) ? new Pair(variantRegionStartIndex, -1) : null; + } + + /** + * Creates a list with all the complete and incomplete variant regions within 'from' (inclusive) and 'to' (exclusive) + * + * @param from beginning window header index of the search window (inclusive) + * @param to end window header index of the search window (exclusive) + * @param variantSite boolean array with true marking variant regions + * @return a list with start/stops of variant regions following getNextVariantRegion description + */ + private List> getAllVariantRegions(int from, int to, boolean[] variantSite) { + List> regions = new LinkedList>(); + int index = from; + while(index < to) { + Pair result = getNextVariantRegion(index, to, variantSite); + if (result == null) + break; + + regions.add(result); + if (result.getSecond() < 0) + break; + index = result.getSecond() + 1; + } + return regions; + } + + + /** + * Determines if the window can be slid given the new incoming read. + * + * We check from the start of the window to the (unclipped) start of the new incoming read if there + * is any variant. + * If there are variant sites, we check if it's time to close the variant region. + * + * @param incomingReadUnclippedStart the incoming read's start position. Must be the unclipped start! + * @return all reads that have fallen to the left of the sliding window after the slide + */ + protected List slideWindow(int incomingReadUnclippedStart) { + List finalizedReads = new LinkedList(); + + if (incomingReadUnclippedStart - contextSize > getStartLocation()) { + int readStartHeaderIndex = incomingReadUnclippedStart - getStartLocation(); + boolean[] variantSite = markSites(getStartLocation() + readStartHeaderIndex); + int breakpoint = Math.max(readStartHeaderIndex - contextSize - 1, 0); // this is the limit of what we can close/send to consensus (non-inclusive) + + List> regions = getAllVariantRegions(0, breakpoint, variantSite); + finalizedReads = closeVariantRegions(regions, false); + + List readsToRemove = new LinkedList(); + for (GATKSAMRecord read : readsInWindow) { // todo -- unnecessarily going through all reads in the window !! Optimize this (But remember reads are not sorted by alignment end!) + if (read.getAlignmentEnd() < getStartLocation()) { + readsToRemove.add(read); + } + } + for (GATKSAMRecord read : readsToRemove) { + readsInWindow.remove(read); + } + } + + return finalizedReads; + } + + /** + * returns an array marked with variant and non-variant regions (it uses + * markVariantRegions to make the marks) + * + * @param stop check the window from start to stop (not-inclusive) + * @return a boolean array with 'true' marking variant regions and false marking consensus sites + */ + protected boolean[] markSites(int stop) { + + boolean[] markedSites = new boolean[stop - getStartLocation() + contextSize + 1]; + + Iterator headerElementIterator = windowHeader.iterator(); + for (int i = getStartLocation(); i < stop; i++) { + if (headerElementIterator.hasNext()) { + HeaderElement headerElement = headerElementIterator.next(); + + if (headerElement.isVariant(MIN_ALT_BASE_PROPORTION_TO_TRIGGER_VARIANT, MIN_INDEL_BASE_PROPORTION_TO_TRIGGER_VARIANT)) + markVariantRegion(markedSites, i - getStartLocation()); + + } else + break; + } + return markedSites; + } + + /** + * Marks the sites around the variant site (as true) + * + * @param markedSites the boolean array to bear the marks + * @param variantSiteLocation the location where a variant site was found + */ + protected void markVariantRegion(boolean[] markedSites, int variantSiteLocation) { + int from = (variantSiteLocation < contextSize) ? 0 : variantSiteLocation - contextSize; + int to = (variantSiteLocation + contextSize + 1 > markedSites.length) ? markedSites.length : variantSiteLocation + contextSize + 1; + for (int i = from; i < to; i++) + markedSites[i] = true; + } + + /** + * Adds bases to the running consensus or filtered data accordingly + * + * If adding a sequence with gaps, it will finalize multiple consensus reads and keep the last running consensus + * + * @param start the first header index to add to consensus + * @param end the first header index NOT TO add to consensus + * @return a list of consensus reads generated by this call. Empty list if no consensus was generated. + */ + protected List addToSyntheticReads(int start, int end) { + LinkedList reads = new LinkedList(); + if (start < end) { + + ListIterator headerElementIterator = windowHeader.listIterator(start); + + if (!headerElementIterator.hasNext()) + throw new ReviewedStingException(String.format("Requested to add to synthetic reads a region that contains no header element at index: %d - %d / %d", start, windowHeader.size(), end)); + + HeaderElement headerElement = headerElementIterator.next(); + + if (headerElement.hasConsensusData()) { + reads.addAll(finalizeAndAdd(ConsensusType.FILTERED)); + + int endOfConsensus = findNextNonConsensusElement(start, end); + addToRunningConsensus(start, endOfConsensus); + + if (endOfConsensus <= start) + throw new ReviewedStingException(String.format("next start is <= current start: (%d <= %d)", endOfConsensus, start)); + + reads.addAll(addToSyntheticReads(endOfConsensus, end)); + } else if (headerElement.hasFilteredData()) { + reads.addAll(finalizeAndAdd(ConsensusType.CONSENSUS)); + + int endOfFilteredData = findNextNonFilteredDataElement(start, end); + addToFilteredData(start, endOfFilteredData); + + if (endOfFilteredData <= start) + throw new ReviewedStingException(String.format("next start is <= current start: (%d <= %d)", endOfFilteredData, start)); + + reads.addAll(addToSyntheticReads(endOfFilteredData, end)); + } else if (headerElement.isEmpty()) { + reads.addAll(finalizeAndAdd(ConsensusType.BOTH)); + + int endOfEmptyData = findNextNonEmptyElement(start, end); + + if (endOfEmptyData <= start) + throw new ReviewedStingException(String.format("next start is <= current start: (%d <= %d)", endOfEmptyData, start)); + + reads.addAll(addToSyntheticReads(endOfEmptyData, end)); + } else + throw new ReviewedStingException(String.format("Header Element %d is neither Consensus, Data or Empty. Something is wrong.", start)); + + } + + return reads; + } + + /** + * Finalizes one or more synthetic reads. + * + * @param type the synthetic reads you want to close + * @return the GATKSAMRecords generated by finalizing the synthetic reads + */ + private List finalizeAndAdd(ConsensusType type) { + GATKSAMRecord read = null; + List list = new LinkedList(); + + switch (type) { + case CONSENSUS: + read = finalizeRunningConsensus(); + break; + case FILTERED: + read = finalizeFilteredDataConsensus(); + break; + case BOTH: + read = finalizeRunningConsensus(); + if (read != null) list.add(read); + read = finalizeFilteredDataConsensus(); + } + if (read != null) + list.add(read); + + return list; + } + + /** + * Looks for the next position without consensus data + * + * @param start beginning of the filtered region + * @param upTo limit to search for another consensus element + * @return next position with consensus data or empty + */ + private int findNextNonConsensusElement(int start, int upTo) { + Iterator headerElementIterator = windowHeader.listIterator(start); + int index = start; + while (index < upTo) { + if (!headerElementIterator.hasNext()) + throw new ReviewedStingException("There are no more header elements in this window"); + + HeaderElement headerElement = headerElementIterator.next(); + if (!headerElement.hasConsensusData()) + break; + index++; + } + return index; + } + + /** + * Looks for the next position without filtered data + * + * @param start beginning of the region + * @param upTo limit to search for + * @return next position with no filtered data + */ + private int findNextNonFilteredDataElement(int start, int upTo) { + Iterator headerElementIterator = windowHeader.listIterator(start); + int index = start; + while (index < upTo) { + if (!headerElementIterator.hasNext()) + throw new ReviewedStingException("There are no more header elements in this window"); + + HeaderElement headerElement = headerElementIterator.next(); + if (!headerElement.hasFilteredData() || headerElement.hasConsensusData()) + break; + index++; + } + return index; + } + + /** + * Looks for the next non-empty header element + * + * @param start beginning of the region + * @param upTo limit to search for + * @return next position with non-empty element + */ + private int findNextNonEmptyElement(int start, int upTo) { + ListIterator headerElementIterator = windowHeader.listIterator(start); + int index = start; + while (index < upTo) { + if (!headerElementIterator.hasNext()) + throw new ReviewedStingException("There are no more header elements in this window"); + + HeaderElement headerElement = headerElementIterator.next(); + if (!headerElement.isEmpty()) + break; + index++; + } + return index; + } + + + /** + * Adds bases to the filtered data synthetic read. + * + * Different from the addToConsensus method, this method assumes a contiguous sequence of filteredData + * bases. + * + * @param start the first header index to add to consensus + * @param end the first header index NOT TO add to consensus + */ + private void addToFilteredData(int start, int end) { + if (filteredDataConsensus == null) + filteredDataConsensus = new SyntheticRead(header, readGroupAttribute, contig, contigIndex, filteredDataReadName + filteredDataConsensusCounter++, windowHeader.get(start).getLocation(), GATKSAMRecord.REDUCED_READ_CONSENSUS_TAG, hasIndelQualities); + + ListIterator headerElementIterator = windowHeader.listIterator(start); + for (int index = start; index < end; index++) { + if (!headerElementIterator.hasNext()) + throw new ReviewedStingException("Requested to create a filtered data synthetic read from " + start + " to " + end + " but " + index + " does not exist"); + + HeaderElement headerElement = headerElementIterator.next(); + if (headerElement.hasConsensusData()) + throw new ReviewedStingException("Found consensus data inside region to add to filtered data."); + + if (!headerElement.hasFilteredData()) + throw new ReviewedStingException("No filtered data in " + index); + + genericAddBaseToConsensus(filteredDataConsensus, headerElement.getFilteredBaseCounts(), headerElement.getRMS()); + } + } + + /** + * Adds bases to the filtered data synthetic read. + * + * Different from the addToConsensus method, this method assumes a contiguous sequence of filteredData + * bases. + * + * @param start the first header index to add to consensus + * @param end the first header index NOT TO add to consensus + */ + private void addToRunningConsensus(int start, int end) { + if (runningConsensus == null) + runningConsensus = new SyntheticRead(header, readGroupAttribute, contig, contigIndex, consensusReadName + consensusCounter++, windowHeader.get(start).getLocation(), GATKSAMRecord.REDUCED_READ_CONSENSUS_TAG, hasIndelQualities); + + Iterator headerElementIterator = windowHeader.listIterator(start); + for (int index = start; index < end; index++) { + if (!headerElementIterator.hasNext()) + throw new ReviewedStingException("Requested to create a running consensus synthetic read from " + start + " to " + end + " but " + index + " does not exist"); + + HeaderElement headerElement = headerElementIterator.next(); + if (!headerElement.hasConsensusData()) + throw new ReviewedStingException("No CONSENSUS data in " + index); + + genericAddBaseToConsensus(runningConsensus, headerElement.getConsensusBaseCounts(), headerElement.getRMS()); + } + } + + /** + * Generic accessor to add base and qualities to a synthetic read + * + * @param syntheticRead the synthetic read to add to + * @param baseCounts the base counts object in the header element + * @param rms the rms mapping quality in the header element + */ + private void genericAddBaseToConsensus(SyntheticRead syntheticRead, BaseAndQualsCounts baseCounts, double rms) { + BaseIndex base = baseCounts.baseIndexWithMostCounts(); + byte count = (byte) Math.min(baseCounts.countOfMostCommonBase(), Byte.MAX_VALUE); + byte qual = baseCounts.averageQualsOfMostCommonBase(); + byte insQual = baseCounts.averageInsertionQualsOfMostCommonBase(); + byte delQual = baseCounts.averageDeletionQualsOfMostCommonBase(); + syntheticRead.add(base, count, qual, insQual, delQual, rms); + } + + /** + * Finalizes a variant region, any adjacent synthetic reads. + * + * @param start the first window header index in the variant region (inclusive) + * @param stop the last window header index of the variant region (inclusive) + * @return all reads contained in the variant region plus any adjacent synthetic reads + */ + @Requires("start <= stop") + protected List closeVariantRegion(int start, int stop) { + List allReads = new LinkedList(); + + int refStart = windowHeader.get(start).getLocation(); // All operations are reference based, not read based + int refStop = windowHeader.get(stop).getLocation(); + + for (GATKSAMRecord read : readsInWindow) { // Keep all reads that overlap the variant region + if (read.getSoftStart() <= refStop && read.getAlignmentEnd() >= refStart) { + allReads.add(read); + updateHeaderCounts(read, true); // Remove this read from the window header entirely + } + } + + List result = (downsampleCoverage > 0) ? downsampleVariantRegion(allReads) : allReads; + result.addAll(addToSyntheticReads(0, start)); + result.addAll(finalizeAndAdd(ConsensusType.BOTH)); + + for (GATKSAMRecord read : result) { + readsInWindow.remove(read); // todo -- not optimal, but needs to be done so the next region doesn't try to remove the same reads from the header counts. + } + + return result; // finalized reads will be downsampled if necessary + } + + + private List closeVariantRegions(List> regions, boolean forceClose) { + List allReads = new LinkedList(); + if (!regions.isEmpty()) { + int lastStop = -1; + for (Pair region : regions) { + int start = region.getFirst(); + int stop = region.getSecond(); + if (stop < 0 && forceClose) + stop = windowHeader.size() - 1; + if (stop >= 0) { + allReads.addAll(closeVariantRegion(start, stop)); + lastStop = stop; + } + } + for (int i = 0; i < lastStop; i++) // clean up the window header elements up until the end of the variant region. (we keep the last element in case the following element had a read that started with insertion) + windowHeader.remove(); // todo -- can't believe java doesn't allow me to just do windowHeader = windowHeader.get(stop). Should be more efficient here! + } + return allReads; + } + + /** + * Downsamples a variant region to the downsample coverage of the sliding window. + * + * It will use the downsampling strategy defined by the SlidingWindow + * + * @param allReads the reads to select from (all reads that cover the window) + * @return a list of reads selected by the downsampler to cover the window to at least the desired coverage + */ + protected List downsampleVariantRegion(final List allReads) { + double fraction = 100 / allReads.size(); + if (fraction >= 1) + return allReads; + + FractionalDownsampler downsampler = new FractionalDownsampler(fraction); + downsampler.submit(allReads); + return downsampler.consumeDownsampledItems(); + } + + /** + * Properly closes a Sliding Window, finalizing all consensus and variant + * regions that still exist regardless of being able to fulfill the + * context size requirement in the end. + * + * @return All reads generated + */ + public List close() { + // mark variant regions + List finalizedReads = new LinkedList(); + + if (!windowHeader.isEmpty()) { + boolean[] variantSite = markSites(stopLocation + 1); + List> regions = getAllVariantRegions(0, windowHeader.size(), variantSite); + finalizedReads = closeVariantRegions(regions, true); + + if (!windowHeader.isEmpty()) { + finalizedReads.addAll(addToSyntheticReads(0, windowHeader.size() - 1)); + finalizedReads.addAll(finalizeAndAdd(ConsensusType.BOTH)); // if it ended in running consensus, finish it up + } + + } + return finalizedReads; + } + + /** + * generates the SAM record for the running consensus read and resets it (to null) + * + * @return the read contained in the running consensus + */ + protected GATKSAMRecord finalizeRunningConsensus() { + GATKSAMRecord finalizedRead = null; + if (runningConsensus != null) { + if (runningConsensus.size() > 0) + finalizedRead = runningConsensus.close(); + else + consensusCounter--; + + runningConsensus = null; + } + return finalizedRead; + } + + /** + * generates the SAM record for the filtered data consensus and resets it (to null) + * + * @return the read contained in the running consensus + */ + protected GATKSAMRecord finalizeFilteredDataConsensus() { + GATKSAMRecord finalizedRead = null; + if (filteredDataConsensus != null) { + if (filteredDataConsensus.size() > 0) + finalizedRead = filteredDataConsensus.close(); + else + filteredDataConsensusCounter--; + + filteredDataConsensus = null; + } + return finalizedRead; + } + + + /** + * Updates the sliding window's header counts with the incoming read bases, insertions + * and deletions. + * + * @param read the incoming read to be added to the sliding window + */ + protected void updateHeaderCounts(GATKSAMRecord read, boolean removeRead) { + byte[] bases = read.getReadBases(); + byte[] quals = read.getBaseQualities(); + byte[] insQuals = read.getExistingBaseInsertionQualities(); + byte[] delQuals = read.getExistingBaseDeletionQualities(); + int readStart = read.getSoftStart(); + int readEnd = read.getSoftEnd(); + Cigar cigar = read.getCigar(); + + int readBaseIndex = 0; + int startLocation = getStartLocation(); + int locationIndex = startLocation < 0 ? 0 : readStart - startLocation; + + if (removeRead && locationIndex < 0) + throw new ReviewedStingException("read is behind the Sliding Window. read: " + read + " cigar: " + read.getCigarString() + " window: " + startLocation + "," + stopLocation); + + if (!removeRead) { // we only need to create new header elements if we are adding the read, not when we're removing it + if (locationIndex < 0) { // Do we need to add extra elements before the start of the header? -- this may happen if the previous read was clipped and this alignment starts before the beginning of the window + for (int i = 1; i <= -locationIndex; i++) + windowHeader.addFirst(new HeaderElement(startLocation - i)); + + startLocation = readStart; // update start location accordingly + locationIndex = 0; + } + + if (stopLocation < readEnd) { // Do we need to add extra elements to the header? + int elementsToAdd = (stopLocation < 0) ? readEnd - readStart + 1 : readEnd - stopLocation; + while (elementsToAdd-- > 0) + windowHeader.addLast(new HeaderElement(readEnd - elementsToAdd)); + + stopLocation = readEnd; // update stopLocation accordingly + } + + // Special case for leading insertions before the beginning of the sliding read + if (ReadUtils.readStartsWithInsertion(read).getFirst() && (readStart == startLocation || startLocation < 0)) { + windowHeader.addFirst(new HeaderElement(readStart - 1)); // create a new first element to the window header with no bases added + locationIndex = 1; // This allows the first element (I) to look at locationIndex - 1 in the subsequent switch and do the right thing. + } + } + + Iterator headerElementIterator = windowHeader.listIterator(locationIndex); + HeaderElement headerElement; + for (CigarElement cigarElement : cigar.getCigarElements()) { + switch (cigarElement.getOperator()) { + case H: + break; + case I: + if (removeRead && locationIndex == 0) { // special case, if we are removing a read that starts in insertion and we don't have the previous header element anymore, don't worry about it. + break; + } + + headerElement = windowHeader.get(locationIndex - 1); // insertions are added to the base to the left (previous element) + + if (removeRead) { + headerElement.removeInsertionToTheRight(); + } + else { + headerElement.addInsertionToTheRight(); + } + readBaseIndex += cigarElement.getLength(); + break; // just ignore the insertions at the beginning of the read + case D: + int nDeletions = cigarElement.getLength(); + while (nDeletions-- > 0) { // deletions are added to the baseCounts with the read mapping quality as it's quality score + headerElement = headerElementIterator.next(); + byte mq = (byte) read.getMappingQuality(); + if (removeRead) + headerElement.removeBase((byte) 'D', mq, mq, mq, mq, MIN_BASE_QUAL_TO_COUNT, MIN_MAPPING_QUALITY, false); + else + headerElement.addBase((byte) 'D', mq, mq, mq, mq, MIN_BASE_QUAL_TO_COUNT, MIN_MAPPING_QUALITY, false); + + locationIndex++; + } + break; + case S: + case M: + case P: + case EQ: + case X: + int nBasesToAdd = cigarElement.getLength(); + while (nBasesToAdd-- > 0) { + headerElement = headerElementIterator.next(); + byte insertionQuality = insQuals == null ? -1 : insQuals[readBaseIndex]; // if the read doesn't have indel qualities, use -1 (doesn't matter the value because it won't be used for anything) + byte deletionQuality = delQuals == null ? -1 : delQuals[readBaseIndex]; + if (removeRead) + headerElement.removeBase(bases[readBaseIndex], quals[readBaseIndex], insertionQuality, deletionQuality, read.getMappingQuality(), MIN_BASE_QUAL_TO_COUNT, MIN_MAPPING_QUALITY, cigarElement.getOperator() == CigarOperator.S); + else + headerElement.addBase(bases[readBaseIndex], quals[readBaseIndex], insertionQuality, deletionQuality, read.getMappingQuality(), MIN_BASE_QUAL_TO_COUNT, MIN_MAPPING_QUALITY, cigarElement.getOperator() == CigarOperator.S); + + readBaseIndex++; + locationIndex++; + } + break; + } + } + } +} + diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticRead.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticRead.java new file mode 100644 index 000000000..9ee1a4634 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticRead.java @@ -0,0 +1,285 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import com.google.java.contract.Requires; +import net.sf.samtools.Cigar; +import net.sf.samtools.CigarElement; +import net.sf.samtools.CigarOperator; +import net.sf.samtools.SAMFileHeader; +import org.broadinstitute.sting.gatk.walkers.bqsr.EventType; +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; + +import java.util.ArrayList; +import java.util.Iterator; +import java.util.LinkedList; +import java.util.List; + +/** + * Running Consensus is a read that is compressed as a sliding window travels over the reads + * and keeps track of all the bases that are outside of variant regions. + * + * Consensus reads have qual fields that correspond to the number of reads that had the base + * and passed the minimum quality threshold. + * + * The mapping quality of a consensus read is the average RMS of the mapping qualities of all reads + * that compose the consensus + * + * @author Mauricio Carneiro + * @since 8/26/11 + */ +public class SyntheticRead { + private List bases; + private List counts; + private List quals; + private List insertionQuals; + private List deletionQuals; + private double mappingQuality; // the average of the rms of the mapping qualities of all the reads that contributed to this consensus + private String readTag; + + // Information to produce a GATKSAMRecord + private SAMFileHeader header; + private GATKSAMReadGroupRecord readGroupRecord; + private String contig; + private int contigIndex; + private String readName; + private Integer refStart; + private boolean hasIndelQualities = false; + + /** + * Full initialization of the running consensus if you have all the information and are ready to + * start adding to the running consensus. + * + * @param header GATKSAMRecord file header + * @param readGroupRecord Read Group for the GATKSAMRecord + * @param contig the read's contig name + * @param contigIndex the read's contig index + * @param readName the read's name + * @param refStart the alignment start (reference based) + * @param readTag the reduce reads tag for the synthetic read + */ + public SyntheticRead(SAMFileHeader header, GATKSAMReadGroupRecord readGroupRecord, String contig, int contigIndex, String readName, Integer refStart, String readTag, boolean hasIndelQualities) { + final int initialCapacity = 10000; + bases = new ArrayList(initialCapacity); + counts = new ArrayList(initialCapacity); + quals = new ArrayList(initialCapacity); + insertionQuals = new ArrayList(initialCapacity); + deletionQuals = new ArrayList(initialCapacity); + mappingQuality = 0.0; + + this.readTag = readTag; + this.header = header; + this.readGroupRecord = readGroupRecord; + this.contig = contig; + this.contigIndex = contigIndex; + this.readName = readName; + this.refStart = refStart; + this.hasIndelQualities = hasIndelQualities; + } + + public SyntheticRead(List bases, List counts, List quals, List insertionQuals, List deletionQuals, double mappingQuality, String readTag, SAMFileHeader header, GATKSAMReadGroupRecord readGroupRecord, String contig, int contigIndex, String readName, Integer refStart, boolean hasIndelQualities) { + this.bases = bases; + this.counts = counts; + this.quals = quals; + this.insertionQuals = insertionQuals; + this.deletionQuals = deletionQuals; + this.mappingQuality = mappingQuality; + this.readTag = readTag; + this.header = header; + this.readGroupRecord = readGroupRecord; + this.contig = contig; + this.contigIndex = contigIndex; + this.readName = readName; + this.refStart = refStart; + this.hasIndelQualities = hasIndelQualities; + } + + /** + * Easy access to keep adding to a running consensus that has already been + * initialized with the correct read name and refStart + * + * @param base the base to add + * @param count number of reads with this base + */ + @Requires("count < Byte.MAX_VALUE") + public void add(BaseIndex base, byte count, byte qual, byte insQual, byte delQual, double mappingQuality) { + counts.add(count); + bases.add(base); + quals.add(qual); + insertionQuals.add(insQual); + deletionQuals.add(delQual); + this.mappingQuality += mappingQuality; + } + + public BaseIndex getBase(int readCoordinate) { + return bases.get(readCoordinate); + } + + /** + * Creates a GATKSAMRecord of the synthetic read. Will return null if the read is invalid. + * + * Invalid reads are : + * - exclusively composed of deletions + * + * @return a GATKSAMRecord or null + */ + public GATKSAMRecord close () { + if (isAllDeletions()) + return null; + + GATKSAMRecord read = new GATKSAMRecord(header); + read.setReferenceName(contig); + read.setReferenceIndex(contigIndex); + read.setReadPairedFlag(false); + read.setReadUnmappedFlag(false); + read.setCigar(buildCigar()); // the alignment start may change while building the cigar (leading deletions) + read.setAlignmentStart(refStart); + read.setReadName(readName); + read.setBaseQualities(convertBaseQualities(), EventType.BASE_SUBSTITUTION); + read.setReadBases(convertReadBases()); + read.setMappingQuality((int) Math.ceil(mappingQuality / bases.size())); + read.setReadGroup(readGroupRecord); + read.setAttribute(readTag, convertBaseCounts()); + + if (hasIndelQualities) { + read.setBaseQualities(convertInsertionQualities(), EventType.BASE_INSERTION); + read.setBaseQualities(convertDeletionQualities(), EventType.BASE_DELETION); + } + + return read; + } + + /** + * Checks if the synthetic read is composed exclusively of deletions + * + * @return true if it is, false if it isn't. + */ + private boolean isAllDeletions() { + for (BaseIndex b : bases) + if (b != BaseIndex.D) + return false; + return true; + } + + public int size () { + return bases.size(); + } + + private byte [] convertBaseQualities() { + return convertVariableGivenBases(bases, quals); + } + + private byte [] convertInsertionQualities() { + return convertVariableGivenBases(bases, insertionQuals); + } + + private byte [] convertDeletionQualities() { + return convertVariableGivenBases(bases, deletionQuals); + } + + protected byte [] convertBaseCounts() { + byte[] countsArray = convertVariableGivenBases(bases, counts); + + if (countsArray.length == 0) + throw new ReviewedStingException("Reduced read has counts array of length 0"); + + byte[] compressedCountsArray = new byte [countsArray.length]; + compressedCountsArray[0] = countsArray[0]; + for (int i = 1; i < countsArray.length; i++) + compressedCountsArray[i] = (byte) MathUtils.bound(countsArray[i] - compressedCountsArray[0], Byte.MIN_VALUE, Byte.MAX_VALUE); + + return compressedCountsArray; + } + + private byte [] convertReadBases() { + byte [] readArray = new byte[getReadLengthWithNoDeletions(bases)]; + int i = 0; + for (BaseIndex baseIndex : bases) + if (baseIndex != BaseIndex.D) + readArray[i++] = baseIndex.getByte(); + + return readArray; + } + + /** + * Builds the cigar string for the synthetic read + * + * Warning: if the synthetic read has leading deletions, it will shift the refStart (alignment start) of the read. + * + * @return the cigar string for the synthetic read + */ + private Cigar buildCigar() { + LinkedList cigarElements = new LinkedList(); + CigarOperator cigarOperator = null; + int length = 0; + for (BaseIndex b : bases) { + CigarOperator op; + switch (b) { + case D: + op = CigarOperator.DELETION; + break; + case I: + throw new ReviewedStingException("Trying to create an insertion in a synthetic read. This operation is currently unsupported."); + default: + op = CigarOperator.MATCH_OR_MISMATCH; + break; + } + if (cigarOperator == null) { + if (op == CigarOperator.D) // read cannot start with a deletion + refStart++; // if it does, we need to move the reference start forward + else + cigarOperator = op; + } + else if (cigarOperator != op) { // if this is a new operator, we need to close the previous one + cigarElements.add(new CigarElement(length, cigarOperator)); // close previous operator + cigarOperator = op; + length = 0; + } + + if (cigarOperator != null) // only increment the length of the cigar element if we really added it to the read (no leading deletions) + length++; + } + if (length > 0 && cigarOperator != CigarOperator.D) // read cannot end with a deletion + cigarElements.add(new CigarElement(length, cigarOperator)); // add the last cigar element + + return new Cigar(cigarElements); + } + + /** + * Shared functionality for all conversion utilities + * + * @param bases the read bases + * @param variable the list to convert + * @return a converted variable given the bases and skipping deletions + */ + + private static byte [] convertVariableGivenBases (List bases, List variable) { + byte [] variableArray = new byte[getReadLengthWithNoDeletions(bases)]; + int i = 0; + Iterator variableIterator = variable.iterator(); + for (BaseIndex baseIndex : bases) { + byte count = variableIterator.next(); + if (baseIndex != BaseIndex.D) + variableArray[i++] = count; + } + return variableArray; + + } + + /** + * Shared functionality for all conversion utilities + * + * @param bases the read bases + * @return the length of the read with no deletions + */ + private static int getReadLengthWithNoDeletions(List bases) { + int readLength = bases.size(); + for (BaseIndex baseIndex : bases) + if (baseIndex == BaseIndex.D) + readLength--; + return readLength; + } + + +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ErrorModel.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ErrorModel.java new file mode 100644 index 000000000..f91e535b0 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ErrorModel.java @@ -0,0 +1,242 @@ +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import com.google.java.contract.Requires; +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; + +import java.util.Arrays; +import java.util.HashMap; + +/** + * Created by IntelliJ IDEA. + * User: carneiro + * Date: 7/21/11 + * Time: 2:21 PM + * + * This is a site based implementation of an Error Model. The error model is a probability + * distribution for the site given the phred scaled quality. + */ +public class ErrorModel { + private byte maxQualityScore; + private byte minQualityScore; + private byte phredScaledPrior; + private double log10minPower; + private int refDepth; + private boolean hasData = false; + private ProbabilityVector probabilityVector; + private static final boolean compressRange = false; + + private static final double log10MinusE = Math.log10(Math.exp(1.0)); + + /** + * Calculates the probability of the data (reference sample reads) given the phred scaled site quality score. + * + * @param minQualityScore Minimum site quality score to evaluate + * @param maxQualityScore Maximum site quality score to evaluate + * @param phredScaledPrior Prior for site quality + * @param refSamplePileup Reference sample pileup + * @param refSampleVC VC with True alleles in reference sample pileup + * @param minPower Minimum power + */ + public ErrorModel (byte minQualityScore, byte maxQualityScore, byte phredScaledPrior, + ReadBackedPileup refSamplePileup, VariantContext refSampleVC, double minPower) { + this.maxQualityScore = maxQualityScore; + this.minQualityScore = minQualityScore; + this.phredScaledPrior = phredScaledPrior; + log10minPower = Math.log10(minPower); + + + double[] model = new double[maxQualityScore+1]; + Arrays.fill(model,Double.NEGATIVE_INFINITY); + + boolean hasCalledAlleles = false; + if (refSampleVC != null) { + + for (Allele allele : refSampleVC.getAlleles()) { + if (allele.isCalled()) { + hasCalledAlleles = true; + break; + } + } + + + } + if (refSamplePileup == null || refSampleVC == null || !hasCalledAlleles) { + double p = MathUtils.phredScaleToLog10Probability((byte)(maxQualityScore-minQualityScore)); + for (byte q=minQualityScore; q<=maxQualityScore; q++) { + // maximum uncertainty if there's no ref data at site + model[q] = p; + } + this.refDepth = 0; + } + else { + hasData = true; + int matches = 0; + int coverage = refSamplePileup.getNumberOfElements(); + + Allele refAllele = refSampleVC.getReference(); + + for (PileupElement refPileupElement : refSamplePileup) { + boolean isMatch = false; + for (Allele allele : refSampleVC.getAlleles()) + isMatch |= pileupElementMatches(refPileupElement, allele, refAllele); + + matches += (isMatch?1:0); + // System.out.format("MATCH:%b\n",isMatch); + } + + int mismatches = coverage - matches; + //System.out.format("Cov:%d match:%d mismatch:%d\n",coverage, matches, mismatches); + for (byte q=minQualityScore; q<=maxQualityScore; q++) { + model[q] = log10PoissonProbabilitySiteGivenQual(q,coverage, mismatches); + } + this.refDepth = coverage; + } + + // compress probability vector + this.probabilityVector = new ProbabilityVector(model, compressRange); + } + + + /** + * Simple constructor that just takes a given log-probability vector as error model. + * Only intended for unit testing, not general usage. + * @param pvector Given vector of log-probabilities + * + */ + public ErrorModel(double[] pvector) { + this.maxQualityScore = (byte)(pvector.length-1); + this.minQualityScore = 0; + this.probabilityVector = new ProbabilityVector(pvector, compressRange); + this.hasData = true; + + } + + public static boolean pileupElementMatches(PileupElement pileupElement, Allele allele, Allele refAllele) { + /* System.out.format("PE: base:%s isNextToDel:%b isNextToIns:%b eventBases:%s eventLength:%d Allele:%s RefAllele:%s\n", + pileupElement.getBase(), pileupElement.isBeforeDeletionStart(), + pileupElement.isBeforeInsertion(),pileupElement.getEventBases(),pileupElement.getEventLength(), allele.toString(), refAllele.toString()); + */ + + // if test allele is ref, any base mismatch, or any insertion/deletion at start of pileup count as mismatch + if (allele.isReference()) { + // for a ref allele, any base mismatch or new indel is a mismatch. + if(allele.getBases().length>0 && allele.getBases().length == refAllele.getBases().length ) // SNP/MNP case + return (/*!pileupElement.isBeforeInsertion() && !pileupElement.isBeforeDeletionStart() &&*/ pileupElement.getBase() == allele.getBases()[0]); + else + // either null allele to compare, or ref/alt lengths are different (indel by definition). + // if we have an indel that we are comparing against a REF allele, any indel presence (of any length/content) is a mismatch + return (!pileupElement.isBeforeInsertion() && !pileupElement.isBeforeDeletionStart()); + } + + if (refAllele.getBases().length == allele.getBases().length) + // alleles have the same length (eg snp or mnp) + return pileupElement.getBase() == allele.getBases()[0]; + + // for non-ref alleles, + byte[] alleleBases = allele.getBases(); + int eventLength = alleleBases.length - refAllele.getBases().length; + if (eventLength < 0 && pileupElement.isBeforeDeletionStart() && pileupElement.getEventLength() == -eventLength) + return true; + + if (eventLength > 0 && pileupElement.isBeforeInsertion() && + Arrays.equals(pileupElement.getEventBases().getBytes(),alleleBases)) + return true; + + return false; + } + + + /** + * What's the log-likelihood that a site's quality is equal to q? If we see N observations and n mismatches, + * and assuming each match is independent of each other and that the match probability is just dependent of + * the site quality, so p = 10.^-q/10. + * Since we'll normally have relatively high Q sites and deep coverage in reference samples (ie p small, N high), + * to avoid underflows we'll use the Poisson approximation with lambda = N*p. + * Hence, the log-likelihood of q i.e. Pr(Nmismatches = n | SiteQ = q) ~ Poisson(n | lambda = p*N) with p as above. + * @param q Desired q to get likelihood from + * @param coverage Total coverage + * @param mismatches Number of mismatches + * @return Likelihood of observations as a function of q + */ + @Requires({ + "q >= minQualityScore", + "q <= maxQualityScore", + "coverage >= 0", + "mismatches >= 0", + "mismatches <= coverage" + }) + private double log10PoissonProbabilitySiteGivenQual(byte q, int coverage, int mismatches) { + // same as log10ProbabilitySiteGivenQual but with Poisson approximation to avoid numerical underflows + double lambda = MathUtils.phredScaleToProbability(q) * (double )coverage; + // log10(e^-lambda*lambda^k/k!) = -lambda + k*log10(lambda) - log10factorial(k) + return Math.log10(lambda)*mismatches - lambda*log10MinusE- MathUtils.log10Factorial(mismatches); + } + + @Requires({"qual-minQualityScore <= maxQualityScore"}) + public double getSiteLogErrorProbabilityGivenQual (int qual) { + return probabilityVector.getLogProbabilityForIndex(qual); + } + + public byte getMaxQualityScore() { + return maxQualityScore; + } + + public byte getMinQualityScore() { + return minQualityScore; + } + + public int getMinSignificantQualityScore() { + return new ProbabilityVector(probabilityVector,true).getMinVal(); + } + + public int getMaxSignificantQualityScore() { + return new ProbabilityVector(probabilityVector,true).getMaxVal(); + } + + public int getReferenceDepth() { + return refDepth; + } + public boolean hasData() { + return hasData; + } + + public ProbabilityVector getErrorModelVector() { + return probabilityVector; + } + + public String toString() { + String result = "("; + boolean skipComma = true; + for (double v : probabilityVector.getProbabilityVector()) { + if (skipComma) { + skipComma = false; + } + else { + result += ","; + } + result += String.format("%.4f", v); + } + return result + ")"; + } + + public static int getTotalReferenceDepth(HashMap perLaneErrorModels) { + int n=0; + for (ErrorModel e : perLaneErrorModels.values()) { + n += e.getReferenceDepth(); + } + return n; + } + + /* +@Requires({"maxAlleleCount >= 0"}) +//todo -- memoize this function + public boolean hasPowerForMaxAC (int maxAlleleCount) { + int siteQ = (int) Math.ceil(MathUtils.probabilityToPhredScale((double) 1/maxAlleleCount)); + double log10CumSum = getCumulativeSum(siteQ); + return log10CumSum < log10minPower; + } */ +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolAFCalculationModel.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolAFCalculationModel.java new file mode 100644 index 000000000..b8be24cad --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolAFCalculationModel.java @@ -0,0 +1,706 @@ +/* + * Copyright (c) 2010. + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.apache.log4j.Logger; +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.variantcontext.*; + +import java.io.PrintStream; +import java.util.*; + +public class PoolAFCalculationModel extends AlleleFrequencyCalculationModel { + static final int MAX_LENGTH_FOR_POOL_PL_LOGGING = 10; // if PL vectors longer than this # of elements, don't log them + final protected UnifiedArgumentCollection UAC; + + private final int ploidy; + private final static double MAX_LOG10_ERROR_TO_STOP_EARLY = 6; // we want the calculation to be accurate to 1 / 10^6 + private final static boolean VERBOSE = false; + + protected PoolAFCalculationModel(UnifiedArgumentCollection UAC, int N, Logger logger, PrintStream verboseWriter) { + super(UAC, N, logger, verboseWriter); + ploidy = UAC.samplePloidy; + this.UAC = UAC; + + } + + public List getLog10PNonRef(final VariantContext vc, + final double[] log10AlleleFrequencyPriors, + final AlleleFrequencyCalculationResult result) { + + GenotypesContext GLs = vc.getGenotypes(); + List alleles = vc.getAlleles(); + + // don't try to genotype too many alternate alleles + if ( vc.getAlternateAlleles().size() > MAX_ALTERNATE_ALLELES_TO_GENOTYPE ) { + logger.warn("this tool is currently set to genotype at most " + MAX_ALTERNATE_ALLELES_TO_GENOTYPE + " alternate alleles in a given context, but the context at " + vc.getChr() + ":" + vc.getStart() + " has " + (vc.getAlternateAlleles().size()) + " alternate alleles so only the top alleles will be used; see the --max_alternate_alleles argument"); + + alleles = new ArrayList(MAX_ALTERNATE_ALLELES_TO_GENOTYPE + 1); + alleles.add(vc.getReference()); + alleles.addAll(chooseMostLikelyAlternateAlleles(vc, MAX_ALTERNATE_ALLELES_TO_GENOTYPE, ploidy)); + + + GLs = subsetAlleles(vc, alleles, false, ploidy); + } + + combineSinglePools(GLs, alleles.size(), ploidy, log10AlleleFrequencyPriors, result); + + return alleles; + } + + + /** + * Simple wrapper class to hold values of combined pool likelihoods. + * For fast hashing and fast retrieval, there's a hash map that shadows main list. + * + */ + static class CombinedPoolLikelihoods { + private LinkedList alleleCountSetList; + private HashMap conformationMap; + private double maxLikelihood; + + + public CombinedPoolLikelihoods() { + // final int numElements = GenotypeLikelihoods.numLikelihoods(); + alleleCountSetList = new LinkedList(); + conformationMap = new HashMap(); + maxLikelihood = Double.NEGATIVE_INFINITY; + } + + public void add(ExactACset set) { + alleleCountSetList.add(set); + conformationMap.put(set.ACcounts, set); + final double likelihood = set.log10Likelihoods[0]; + + if (likelihood > maxLikelihood ) + maxLikelihood = likelihood; + + } + + public boolean hasConformation(int[] ac) { + return conformationMap.containsKey(new ExactACcounts(ac)); + + } + + public double getLikelihoodOfConformation(int[] ac) { + return conformationMap.get(new ExactACcounts(ac)).log10Likelihoods[0]; + } + + public double getGLOfACZero() { + return alleleCountSetList.get(0).log10Likelihoods[0]; // AC 0 is always at beginning of list + } + + public int getLength() { + return alleleCountSetList.size(); + } + } + + /** + * + * Chooses N most likely alleles in a set of pools (samples) based on GL sum over alt alleles + * @param vc Input variant context + * @param numAllelesToChoose Number of alleles to choose + * @param ploidy Ploidy per pool + * @return list of numAllelesToChoose most likely alleles + */ + + private static List chooseMostLikelyAlternateAlleles(VariantContext vc, int numAllelesToChoose, int ploidy) { + final int numOriginalAltAlleles = vc.getAlternateAlleles().size(); + final LikelihoodSum[] likelihoodSums = new LikelihoodSum[numOriginalAltAlleles]; + for ( int i = 0; i < numOriginalAltAlleles; i++ ) + likelihoodSums[i] = new LikelihoodSum(vc.getAlternateAllele(i)); + + // based on the GLs, find the alternate alleles with the most probability; sum the GLs for the most likely genotype + final ArrayList GLs = getGLs(vc.getGenotypes()); + for ( final double[] likelihoods : GLs ) { + + final int PLindexOfBestGL = MathUtils.maxElementIndex(likelihoods); + final int[] acCount = PoolGenotypeLikelihoods.getAlleleCountFromPLIndex(1+numOriginalAltAlleles,ploidy,PLindexOfBestGL); + // by convention, first count coming from getAlleleCountFromPLIndex comes from reference allele + for (int k=1; k < acCount.length;k++) { + if (acCount[k] > 0) + likelihoodSums[k-1].sum += likelihoods[PLindexOfBestGL]; + + } + } + + // sort them by probability mass and choose the best ones + Collections.sort(Arrays.asList(likelihoodSums)); + final ArrayList bestAlleles = new ArrayList(numAllelesToChoose); + for ( int i = 0; i < numAllelesToChoose; i++ ) + bestAlleles.add(likelihoodSums[i].allele); + + final ArrayList orderedBestAlleles = new ArrayList(numAllelesToChoose); + for ( Allele allele : vc.getAlternateAlleles() ) { + if ( bestAlleles.contains(allele) ) + orderedBestAlleles.add(allele); + } + + return orderedBestAlleles; + } + + + /** + * Simple non-optimized version that combines GLs from several pools and produces global AF distribution. + * @param GLs Inputs genotypes context with per-pool GLs + * @param numAlleles Number of alternate alleles + * @param ploidyPerPool Number of samples per pool + * @param log10AlleleFrequencyPriors Frequency priors + * @param result object to fill with output values + */ + protected static void combineSinglePools(final GenotypesContext GLs, + final int numAlleles, + final int ploidyPerPool, + final double[] log10AlleleFrequencyPriors, + final AlleleFrequencyCalculationResult result) { + + final ArrayList genotypeLikelihoods = getGLs(GLs); + + + int combinedPloidy = 0; + + // Combine each pool incrementally - likelihoods will be renormalized at each step + CombinedPoolLikelihoods combinedPoolLikelihoods = new CombinedPoolLikelihoods(); + + // first element: zero ploidy, e.g. trivial degenerate distribution + final int[] zeroCounts = new int[numAlleles]; + final ExactACset set = new ExactACset(1, new ExactACcounts(zeroCounts)); + set.log10Likelihoods[0] = 0.0; + + combinedPoolLikelihoods.add(set); + for (int p=1; p ACqueue = new LinkedList(); + // mapping of ExactACset indexes to the objects + final HashMap indexesToACset = new HashMap(); + final CombinedPoolLikelihoods newPool = new CombinedPoolLikelihoods(); + + // add AC=0 to the queue + final int[] zeroCounts = new int[numAlleles]; + final int newPloidy = originalPloidy + newGLPloidy; + zeroCounts[0] = newPloidy; + + ExactACset zeroSet = new ExactACset(1, new ExactACcounts(zeroCounts)); + + ACqueue.add(zeroSet); + indexesToACset.put(zeroSet.ACcounts, zeroSet); + + // keep processing while we have AC conformations that need to be calculated + double maxLog10L = Double.NEGATIVE_INFINITY; + while ( !ACqueue.isEmpty() ) { + // compute log10Likelihoods + final ExactACset ACset = ACqueue.remove(); + final double log10LofKs = calculateACConformationAndUpdateQueue(ACset, newPool, originalPool, newGL, log10AlleleFrequencyPriors, originalPloidy, newGLPloidy, result, maxLog10L, ACqueue, indexesToACset); + maxLog10L = Math.max(maxLog10L, log10LofKs); + // clean up memory + indexesToACset.remove(ACset.ACcounts); + if ( VERBOSE ) + System.out.printf(" *** removing used set=%s%n", ACset.ACcounts); + + } + return newPool; + } + + // todo - refactor, function almost identical except for log10LofK computation in PoolGenotypeLikelihoods + /** + * + * @param set ExactACset holding conformation to be computed + * @param newPool New pool likelihood holder + * @param originalPool Original likelihood holder + * @param newGL New pool GL vector to combine + * @param log10AlleleFrequencyPriors Prior object + * @param originalPloidy Total ploidy of original combined pool + * @param newGLPloidy Ploidy of GL vector + * @param result AFResult object + * @param maxLog10L max likelihood observed so far + * @param ACqueue Queue of conformations to compute + * @param indexesToACset AC indices of objects in queue + * @return max log likelihood + */ + private static double calculateACConformationAndUpdateQueue(final ExactACset set, + final CombinedPoolLikelihoods newPool, + final CombinedPoolLikelihoods originalPool, + final double[] newGL, + final double[] log10AlleleFrequencyPriors, + final int originalPloidy, + final int newGLPloidy, + final AlleleFrequencyCalculationResult result, + final double maxLog10L, + final LinkedList ACqueue, + final HashMap indexesToACset) { + + // compute likeihood in "set" of new set based on original likelihoods + final int numAlleles = set.ACcounts.counts.length; + final int newPloidy = set.getACsum(); + final double log10LofK = computeLofK(set, originalPool, newGL, log10AlleleFrequencyPriors, numAlleles, originalPloidy, newGLPloidy, result); + + + // add to new pool + if (!Double.isInfinite(log10LofK)) + newPool.add(set); + + if ( log10LofK < maxLog10L - MAX_LOG10_ERROR_TO_STOP_EARLY ) { + if ( VERBOSE ) + System.out.printf(" *** breaking early set=%s log10L=%.2f maxLog10L=%.2f%n", set.ACcounts, log10LofK, maxLog10L); + return log10LofK; + } + + // iterate over higher frequencies if possible + // by convention, ACcounts contained in set have full vector of possible pool ac counts including ref count. + // so, if first element is zero, it automatically means we have no wiggle since we're in a corner of the conformation space + final int ACwiggle = set.ACcounts.counts[0]; + if ( ACwiggle == 0 ) // all alternate alleles already sum to 2N so we cannot possibly go to higher frequencies + return log10LofK; + + + // add conformations for other cases + for ( int allele = 1; allele < numAlleles; allele++ ) { + final int[] ACcountsClone = set.ACcounts.getCounts().clone(); + ACcountsClone[allele]++; + // is this a valid conformation? + int altSum = (int)MathUtils.sum(ACcountsClone) - ACcountsClone[0]; + ACcountsClone[0] = newPloidy - altSum; + if (ACcountsClone[0] < 0) + continue; + + + PoolGenotypeLikelihoods.updateACset(ACcountsClone, ACqueue, indexesToACset); + } + + + return log10LofK; + } + + + /** + * Naive combiner of two multiallelic pools - number of alt alleles must be the same. + * Math is generalization of biallelic combiner. + * + * For vector K representing an allele count conformation, + * Pr(D | AC = K) = Sum_G Pr(D|AC1 = G) Pr (D|AC2=K-G) * F(G,K) + * where F(G,K) = choose(m1,[g0 g1 ...])*choose(m2,[...]) / choose(m1+m2,[k1 k2 ...]) + * @param originalPool First log-likelihood pool GL vector + * @param yy Second pool GL vector + * @param ploidy1 Ploidy of first pool (# of chromosomes in it) + * @param ploidy2 Ploidy of second pool + * @param numAlleles Number of alleles + * @param log10AlleleFrequencyPriors Array of biallelic priors + * @param result Af calculation result object + */ + public static void combineMultiallelicPoolNaively(CombinedPoolLikelihoods originalPool, double[] yy, int ploidy1, int ploidy2, int numAlleles, + final double[] log10AlleleFrequencyPriors, + final AlleleFrequencyCalculationResult result) { +/* + final int dim1 = GenotypeLikelihoods.numLikelihoods(numAlleles, ploidy1); + final int dim2 = GenotypeLikelihoods.numLikelihoods(numAlleles, ploidy2); + + if (dim1 != originalPool.getLength() || dim2 != yy.length) + throw new ReviewedStingException("BUG: Inconsistent vector length"); + + if (ploidy2 == 0) + return; + + final int newPloidy = ploidy1 + ploidy2; + + // Say L1(K) = Pr(D|AC1=K) * choose(m1,K) + // and L2(K) = Pr(D|AC2=K) * choose(m2,K) + PoolGenotypeLikelihoods.SumIterator firstIterator = new PoolGenotypeLikelihoods.SumIterator(numAlleles,ploidy1); + final double[] x = originalPool.getLikelihoodsAsVector(true); + while(firstIterator.hasNext()) { + x[firstIterator.getLinearIndex()] += MathUtils.log10MultinomialCoefficient(ploidy1,firstIterator.getCurrentVector()); + firstIterator.next(); + } + + PoolGenotypeLikelihoods.SumIterator secondIterator = new PoolGenotypeLikelihoods.SumIterator(numAlleles,ploidy2); + final double[] y = yy.clone(); + while(secondIterator.hasNext()) { + y[secondIterator.getLinearIndex()] += MathUtils.log10MultinomialCoefficient(ploidy2,secondIterator.getCurrentVector()); + secondIterator.next(); + } + + // initialize output to -log10(choose(m1+m2,[k1 k2...]) + final int outputDim = GenotypeLikelihoods.numLikelihoods(numAlleles, newPloidy); + final PoolGenotypeLikelihoods.SumIterator outputIterator = new PoolGenotypeLikelihoods.SumIterator(numAlleles,newPloidy); + + + // Now, result(K) = logSum_G (L1(G)+L2(K-G)) where G are all possible vectors that sum UP to K + while(outputIterator.hasNext()) { + final ExactACset set = new ExactACset(1, new ExactACcounts(outputIterator.getCurrentAltVector())); + double likelihood = computeLofK(set, x,y, log10AlleleFrequencyPriors, numAlleles, ploidy1, ploidy2, result); + + originalPool.add(likelihood, set, outputIterator.getLinearIndex()); + outputIterator.next(); + } +*/ + } + + /** + * Compute likelihood of a particular AC conformation and update AFresult object + * @param set Set of AC counts to compute + * @param firstGLs Original pool likelihoods before combining + * @param secondGL New GL vector with additional pool + * @param log10AlleleFrequencyPriors Allele frequency priors + * @param numAlleles Number of alleles (including ref) + * @param ploidy1 Ploidy of original pool (combined) + * @param ploidy2 Ploidy of new pool + * @param result AFResult object + * @return log-likehood of requested conformation + */ + private static double computeLofK(final ExactACset set, + final CombinedPoolLikelihoods firstGLs, + final double[] secondGL, + final double[] log10AlleleFrequencyPriors, + final int numAlleles, final int ploidy1, final int ploidy2, + final AlleleFrequencyCalculationResult result) { + + final int newPloidy = ploidy1 + ploidy2; + + // sanity check + int totalAltK = set.getACsum(); + if (newPloidy != totalAltK) + throw new ReviewedStingException("BUG: inconsistent sizes of set.getACsum and passed ploidy values"); + + totalAltK -= set.ACcounts.counts[0]; + // totalAltK has sum of alt alleles of conformation now + + + // special case for k = 0 over all k + if ( totalAltK == 0 ) { // all-ref case + final double log10Lof0 = firstGLs.getGLOfACZero() + secondGL[HOM_REF_INDEX]; + set.log10Likelihoods[0] = log10Lof0; + + result.setLog10LikelihoodOfAFzero(log10Lof0); + result.setLog10PosteriorOfAFzero(log10Lof0 + log10AlleleFrequencyPriors[0]); + + } else { + + // initialize result with denominator + // ExactACset holds by convention the conformation of all alleles, and the sum of all allele count is just the ploidy. + // To compute n!/k1!k2!k3!... we need to compute first n!/(k2!k3!...) and then further divide by k1! where k1=ploidy-sum_k_i + + int[] currentCount = set.ACcounts.getCounts(); + double denom = -MathUtils.log10MultinomialCoefficient(newPloidy, currentCount); + + // for current conformation, get all possible ways to break vector K into two components G1 and G2 + final PoolGenotypeLikelihoods.SumIterator innerIterator = new PoolGenotypeLikelihoods.SumIterator(numAlleles,ploidy2); + set.log10Likelihoods[0] = Double.NEGATIVE_INFINITY; + while (innerIterator.hasNext()) { + // check if breaking current conformation into g1 and g2 is feasible. + final int[] acCount2 = innerIterator.getCurrentVector(); + final int[] acCount1 = MathUtils.vectorDiff(currentCount, acCount2); + final int idx2 = innerIterator.getLinearIndex(); + // see if conformation is valid and if original pool had this conformation + // for conformation to be valid, all elements of g2 have to be <= elements of current AC set + if (isValidConformation(acCount1,ploidy1) && firstGLs.hasConformation(acCount1)) { + final double gl2 = secondGL[idx2]; + if (!Double.isInfinite(gl2)) { + final double firstGL = firstGLs.getLikelihoodOfConformation(acCount1); + final double num1 = MathUtils.log10MultinomialCoefficient(ploidy1, acCount1); + final double num2 = MathUtils.log10MultinomialCoefficient(ploidy2, acCount2); + final double sum = firstGL + gl2 + num1 + num2; + + set.log10Likelihoods[0] = MathUtils.approximateLog10SumLog10(set.log10Likelihoods[0], sum); + } + } + innerIterator.next(); + } + + set.log10Likelihoods[0] += denom; + } + + double log10LofK = set.log10Likelihoods[0]; + + // update the MLE if necessary + final int altCounts[] = Arrays.copyOfRange(set.ACcounts.counts,1, set.ACcounts.counts.length); + result.updateMLEifNeeded(log10LofK, altCounts); + + // apply the priors over each alternate allele + for (final int ACcount : altCounts ) { + if ( ACcount > 0 ) + log10LofK += log10AlleleFrequencyPriors[ACcount]; + } + result.updateMAPifNeeded(log10LofK, altCounts); + + return log10LofK; + } + + /** + * Small helper routine - is a particular AC conformationv vector valid? ie are all elements non-negative and sum to ploidy? + * @param set AC conformation vector + * @param ploidy Ploidy of set + * @return Valid conformation + */ + private static boolean isValidConformation(final int[] set, final int ploidy) { + int sum=0; + for (final int ac: set) { + if (ac < 0) + return false; + sum += ac; + + } + + return (sum == ploidy); + } + + /** + * Combines naively two biallelic pools (of arbitrary size). + * For two pools of size m1 and m2, we can compute the combined likelihood as: + * Pr(D|AC=k) = Sum_{j=0}^k Pr(D|AC1=j) Pr(D|AC2=k-j) * choose(m1,j)*choose(m2,k-j)/choose(m1+m2,k) + * @param originalPool Pool likelihood vector, x[k] = Pr(AC_i = k) for alt allele i + * @param newPLVector Second GL vector + * @param ploidy1 Ploidy of first pool (# of chromosomes in it) + * @param ploidy2 Ploidy of second pool + * @param log10AlleleFrequencyPriors Array of biallelic priors + * @param result Af calculation result object + * @return Combined likelihood vector + */ + public static ProbabilityVector combineBiallelicPoolsNaively(final ProbabilityVector originalPool, final double[] newPLVector, + final int ploidy1, final int ploidy2, final double[] log10AlleleFrequencyPriors, + final AlleleFrequencyCalculationResult result) { + + final int newPloidy = ploidy1 + ploidy2; + + final double[] combinedLikelihoods = new double[1+newPloidy]; + + /** Pre-fill result array and incorporate weights into input vectors + * Say L1(k) = Pr(D|AC1=k) * choose(m1,k) + * and L2(k) = Pr(D|AC2=k) * choose(m2,k) + * equation reduces to + * Pr(D|AC=k) = 1/choose(m1+m2,k) * Sum_{j=0}^k L1(k) L2(k-j) + * which is just plain convolution of L1 and L2 (with pre-existing vector) + */ + + // intialize result vector to -infinity + Arrays.fill(combinedLikelihoods,Double.NEGATIVE_INFINITY); + + final double[] x = Arrays.copyOf(originalPool.getProbabilityVector(),1+ploidy1); + for (int k=originalPool.getProbabilityVector().length; k< x.length; k++) + x[k] = Double.NEGATIVE_INFINITY; + + final double[] y = newPLVector.clone(); + + + final double log10Lof0 = x[0]+y[0]; + result.setLog10LikelihoodOfAFzero(log10Lof0); + result.setLog10PosteriorOfAFzero(log10Lof0 + log10AlleleFrequencyPriors[0]); + + double maxElement = log10Lof0; + int maxElementIdx = 0; + int[] alleleCounts = new int[1]; + for (int k= originalPool.getMinVal() ; k <= newPloidy; k++) { + double[] acc = new double[k+1]; + Arrays.fill(acc,Double.NEGATIVE_INFINITY); + double innerMax = Double.NEGATIVE_INFINITY; + + for (int j=0; j <=k; j++) { + double x1,y1; + + + if (k-j>=0 && k-j < y.length) + y1 = y[k-j] + MathUtils.log10BinomialCoefficient(ploidy2,k-j); + else + continue; + + if (j < x.length) + x1 = x[j] + MathUtils.log10BinomialCoefficient(ploidy1,j); + else + continue; + + if (Double.isInfinite(x1) || Double.isInfinite(y1)) + continue; + acc[j] = x1 + y1; + if (acc[j] > innerMax) + innerMax = acc[j]; + else if (acc[j] < innerMax - MAX_LOG10_ERROR_TO_STOP_EARLY) + break; + } + combinedLikelihoods[k] = MathUtils.log10sumLog10(acc) - MathUtils.log10BinomialCoefficient(newPloidy,k); + maxElementIdx = k; + double maxDiff = combinedLikelihoods[k] - maxElement; + if (maxDiff > 0) + maxElement = combinedLikelihoods[k]; + else if (maxDiff < maxElement - MAX_LOG10_ERROR_TO_STOP_EARLY) { + break; + } + + alleleCounts[0] = k; + result.updateMLEifNeeded(combinedLikelihoods[k],alleleCounts); + result.updateMAPifNeeded(combinedLikelihoods[k] + log10AlleleFrequencyPriors[k],alleleCounts); + + + } + + + return new ProbabilityVector(MathUtils.normalizeFromLog10(Arrays.copyOf(combinedLikelihoods,maxElementIdx+1),false, true)); + } + + + /** + * From a given variant context, extract a given subset of alleles, and update genotype context accordingly, + * including updating the PL's, and assign genotypes accordingly + * @param vc variant context with alleles and genotype likelihoods + * @param allelesToUse alleles to subset + * @param assignGenotypes true: assign hard genotypes, false: leave as no-call + * @param ploidy number of chromosomes per sample (pool) + * @return GenotypesContext with new PLs + */ + public GenotypesContext subsetAlleles(final VariantContext vc, + final List allelesToUse, + final boolean assignGenotypes, + final int ploidy) { + // the genotypes with PLs + final GenotypesContext oldGTs = vc.getGenotypes(); + List NO_CALL_ALLELES = new ArrayList(ploidy); + + for (int k=0; k < ploidy; k++) + NO_CALL_ALLELES.add(Allele.NO_CALL); + + // samples + final List sampleIndices = oldGTs.getSampleNamesOrderedByName(); + + // the new genotypes to create + final GenotypesContext newGTs = GenotypesContext.create(); + + // we need to determine which of the alternate alleles (and hence the likelihoods) to use and carry forward + final int numOriginalAltAlleles = vc.getAlternateAlleles().size(); + final int numNewAltAlleles = allelesToUse.size() - 1; + + + // create the new genotypes + for ( int k = 0; k < oldGTs.size(); k++ ) { + final Genotype g = oldGTs.get(sampleIndices.get(k)); + if ( !g.hasLikelihoods() ) { + newGTs.add(GenotypeBuilder.create(g.getSampleName(), NO_CALL_ALLELES)); + continue; + } + + // create the new likelihoods array from the alleles we are allowed to use + final double[] originalLikelihoods = g.getLikelihoods().getAsVector(); + double[] newLikelihoods; + if ( numOriginalAltAlleles == numNewAltAlleles) { + newLikelihoods = originalLikelihoods; + } else { + newLikelihoods = PoolGenotypeLikelihoods.subsetToAlleles(originalLikelihoods, ploidy, vc.getAlleles(),allelesToUse); + + // might need to re-normalize + newLikelihoods = MathUtils.normalizeFromLog10(newLikelihoods, false, true); + } + + // if there is no mass on the (new) likelihoods, then just no-call the sample + if ( MathUtils.sum(newLikelihoods) > VariantContextUtils.SUM_GL_THRESH_NOCALL ) { + newGTs.add(GenotypeBuilder.create(g.getSampleName(), NO_CALL_ALLELES)); + } + else { + final GenotypeBuilder gb = new GenotypeBuilder(g); + + if ( numNewAltAlleles == 0 ) + gb.noPL(); + else + gb.PL(newLikelihoods); + + // if we weren't asked to assign a genotype, then just no-call the sample + if ( !assignGenotypes || MathUtils.sum(newLikelihoods) > VariantContextUtils.SUM_GL_THRESH_NOCALL ) + gb.alleles(NO_CALL_ALLELES); + else + assignGenotype(gb, newLikelihoods, allelesToUse, ploidy); + newGTs.add(gb.make()); + } + } + + return newGTs; + + } + + /** + * Assign genotypes (GTs) to the samples in the Variant Context greedily based on the PLs + * + * @param newLikelihoods the PL array + * @param allelesToUse the list of alleles to choose from (corresponding to the PLs) + * @param numChromosomes Number of chromosomes per pool + * + * @return genotype + */ + private static void assignGenotype(final GenotypeBuilder gb, + final double[] newLikelihoods, + final List allelesToUse, + final int numChromosomes) { + final int numNewAltAlleles = allelesToUse.size() - 1; + + + + // find the genotype with maximum likelihoods + final int PLindex = numNewAltAlleles == 0 ? 0 : MathUtils.maxElementIndex(newLikelihoods); + + final int[] mlAlleleCount = PoolGenotypeLikelihoods.getAlleleCountFromPLIndex(allelesToUse.size(), numChromosomes, PLindex); + final ArrayList alleleFreqs = new ArrayList(); + final ArrayList alleleCounts = new ArrayList(); + + + for (int k=1; k < mlAlleleCount.length; k++) { + alleleCounts.add(mlAlleleCount[k]); + final double freq = (double)mlAlleleCount[k] / (double)numChromosomes; + alleleFreqs.add(freq); + + } + + // per-pool logging of AC and AF + gb.attribute(VCFConstants.MLE_ALLELE_COUNT_KEY, alleleCounts.size() == 1 ? alleleCounts.get(0) : alleleCounts); + gb.attribute(VCFConstants.MLE_ALLELE_FREQUENCY_KEY, alleleFreqs.size() == 1 ? alleleFreqs.get(0) : alleleFreqs); + + // remove PLs if necessary + if (newLikelihoods.length > MAX_LENGTH_FOR_POOL_PL_LOGGING) + gb.noPL(); + + ArrayList myAlleles = new ArrayList(); + + // add list of called ML genotypes to alleles list + // TODO - too unwieldy? + int idx = 0; + for (int mlind = 0; mlind < mlAlleleCount.length; mlind++) { + for (int k=0; k < mlAlleleCount[mlind]; k++) + myAlleles.add(idx++,allelesToUse.get(mlind)); + } + gb.alleles(myAlleles); + + if ( numNewAltAlleles > 0 ) + gb.log10PError(GenotypeLikelihoods.getGQLog10FromLikelihoods(PLindex, newLikelihoods)); + } + +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypeLikelihoods.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypeLikelihoods.java new file mode 100644 index 000000000..438acbacd --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypeLikelihoods.java @@ -0,0 +1,656 @@ +/* + * Copyright (c) 2010 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import net.sf.samtools.SAMUtils; +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.broadinstitute.sting.utils.variantcontext.GenotypeLikelihoods; + +import java.util.*; + +public abstract class PoolGenotypeLikelihoods { + protected final int numChromosomes; + private final static double MAX_LOG10_ERROR_TO_STOP_EARLY = 6; // we want the calculation to be accurate to 1 / 10^6 + + protected static final boolean VERBOSE = false; + protected static final double qualVec[] = new double[SAMUtils.MAX_PHRED_SCORE+1]; + + // + // The fundamental data arrays associated with a Genotype Likelhoods object + // + protected double[] log10Likelihoods; + protected double[][] logMismatchProbabilityArray; + + protected final int nSamplesPerPool; + protected final HashMap perLaneErrorModels; + protected final int likelihoodDim; + protected final boolean ignoreLaneInformation; + protected final double LOG10_PLOIDY; + protected boolean hasReferenceSampleData; + + protected final int nAlleles; + protected final List alleles; + + private static final double MIN_LIKELIHOOD = Double.NEGATIVE_INFINITY; + + private static final int MAX_NUM_ALLELES_TO_CACHE = 20; + private static final int MAX_NUM_SAMPLES_PER_POOL = 1000; + + private static final boolean FAST_GL_COMPUTATION = true; + // constructor with given logPL elements + public PoolGenotypeLikelihoods(final List alleles, final double[] logLikelihoods, final int ploidy, + final HashMap perLaneErrorModels, final boolean ignoreLaneInformation) { + this.alleles = alleles; + this.nAlleles = alleles.size(); + numChromosomes = ploidy; + nSamplesPerPool = numChromosomes/2; + this.perLaneErrorModels = perLaneErrorModels; + this.ignoreLaneInformation = ignoreLaneInformation; + + // check if at least one lane has actual data + if (perLaneErrorModels == null || perLaneErrorModels.isEmpty()) + hasReferenceSampleData = false; + else { + for (Map.Entry elt : perLaneErrorModels.entrySet()) { + if (elt.getValue().hasData()) { + hasReferenceSampleData = true; + break; + } + } + } + // check sizes + if (nAlleles > MAX_NUM_ALLELES_TO_CACHE) + throw new UserException("No support for this number of alleles"); + + if (nSamplesPerPool > MAX_NUM_SAMPLES_PER_POOL) + throw new UserException("No support for such large number of samples per pool"); + + likelihoodDim = GenotypeLikelihoods.numLikelihoods(nAlleles, numChromosomes); + + if (logLikelihoods == null){ + log10Likelihoods = new double[likelihoodDim]; + Arrays.fill(log10Likelihoods, MIN_LIKELIHOOD); + } else { + if (logLikelihoods.length != likelihoodDim) + throw new ReviewedStingException("BUG: inconsistent parameters when creating PoolGenotypeLikelihoods object"); + + log10Likelihoods = logLikelihoods; //.clone(); // is clone needed? + } + fillCache(); + LOG10_PLOIDY = Math.log10((double)numChromosomes); + } + + + /** + * Crucial inner class that handles addressing elements of pool likelihoods. We store likelihoods as a map + * of form int[] -> double (to be more precise, IntArrayWrapper -> Double). + * For a given ploidy (chromosome count) and number of alleles, we need a form to iterate deterministically + * across all possible allele conformations. + * Problem equivalent to listing in determistic order all possible ways in which N integers will sum to P, + * where N is number of alleles and P is number of chromosomes. + * There's an option to list all integers so that sum will be UP to P. + * For example, with P=2,N=2, restrictSumTo = 2 iterator will produce + * [2 0 ] [1 1] [ 0 2] + * + * + */ + protected static class SumIterator { + private int[] currentState; + private final int[] finalState; + private final int restrictSumTo; + private final int dim; + private boolean hasNext; + private int linearIndex; + private int currentSum; + + /** + * Default constructor. Typical use case: restrictSumTo = -1 if there's no sum restriction, or will generate int[] + * vectors so that all add to this value. + * + * @param finalState End state - typically we should set value to (P,P,P,...) + * @param restrictSumTo See above + */ + public SumIterator(final int[] finalState,final int restrictSumTo) { + this.finalState = finalState; + this.dim = finalState.length; + this.restrictSumTo = restrictSumTo; + currentState = new int[dim]; + reset(); + + } + + /** + * Shortcut constructor for common use case: iterator will produce + * all vectors of length numAlleles whose sum = numChromosomes + * @param numAlleles Number of alleles + * @param numChromosomes Ploidy + */ + public SumIterator(final int numAlleles, final int numChromosomes) { + this(getInitialStateVector(numAlleles,numChromosomes), numChromosomes); + } + + + private static int[] getInitialStateVector(final int nAlleles, final int numChromosomes) { + int[] initialState = new int[nAlleles]; + Arrays.fill(initialState,numChromosomes); + return initialState; + } + + public void setInitialStateVector(final int[] stateVector) { + if (restrictSumTo > 0) { + // check that desired vector is valid + if (MathUtils.sum(stateVector) != restrictSumTo) + throw new ReviewedStingException("BUG: initial state vector nor compatible with sum iterator"); + + final int numAlleles = currentState.length; + final int ploidy = restrictSumTo; + + linearIndex = PoolGenotypeLikelihoods.getLinearIndex(stateVector, numAlleles, ploidy); + } + else + throw new ReviewedStingException("BUG: Not supported"); + + } + public void next() { + int initialDim = (restrictSumTo > 0)?1:0; + hasNext = next(finalState, initialDim); + if (hasNext) + linearIndex++; + } + + private boolean next(final int[] finalState, int initialDim) { + boolean hasNextState = false; + for (int currentDim=initialDim; currentDim < finalState.length; currentDim++) { + final int x = currentState[currentDim]+1; + + if (x > finalState[currentDim] || (currentSum >= restrictSumTo && initialDim > 0)) { + // update vector sum, and reset position + currentSum -= currentState[currentDim]; + currentState[currentDim] = 0; + if (currentDim >= dim-1) { + hasNextState = false; + break; + } + } + else { + currentState[currentDim] = x; + hasNextState = true; + currentSum++; + break; + } + } + if (initialDim > 0) { + currentState[0] = restrictSumTo - currentSum; + } + return hasNextState; + } + + public void reset() { + Arrays.fill(currentState, 0); + if (restrictSumTo > 0) + currentState[0] = restrictSumTo; + hasNext = true; + linearIndex = 0; + currentSum = 0; + } + public int[] getCurrentVector() { + return currentState; + } + + public int[] getCurrentAltVector() { + return Arrays.copyOfRange(currentState,1,currentState.length); + } + /* public int getCurrentSum() { + return currentSum; + } + */ + public int getLinearIndex() { + return linearIndex; + } + + public boolean hasNext() { + return hasNext; + } + } + + public List getAlleles() { return alleles;} + + /** + * Returns an array of log10 likelihoods for each genotype conformation, with ordering determined by SumIterator class. + * + * @return likelihoods array + */ + public double[] getLikelihoods() { + return log10Likelihoods; + } + + + + + + /** + * Set particular element of logPL vector + * @param idx index of allele count conformation to modify + * @param pl Likelihood to associate with map + */ + public void setLogPLs(final int idx, final double pl) { + log10Likelihoods[idx] = pl; + } + + public void renormalize() { + log10Likelihoods = MathUtils.normalizeFromLog10(log10Likelihoods,false,true); + } + /** Compute most likely AC conformation based on currently stored PL's - just loop through log PL map and output max value + * + * @return vector with most likely allele count, ordered according to this object's alleles + */ + public Pair getMostLikelyACCount() { + + int[] mlInd = null; + double maxVal = Double.NEGATIVE_INFINITY; + + final SumIterator iterator = new SumIterator(alleles.size(),numChromosomes); + + int idx = 0; + while (iterator.hasNext()) { + double pl = log10Likelihoods[idx++]; + if (pl > maxVal) { + maxVal = pl; + mlInd = iterator.getCurrentVector().clone(); + + } + iterator.next(); + } + if (VERBOSE) { + System.out.println(VCFConstants.MLE_ALLELE_COUNT_KEY + ": " + Arrays.toString(mlInd)); + } + return new Pair(mlInd,maxVal); + } + + /** + * Given set of alleles with corresponding vector of likelihoods, subset to a new set of alleles + * + * @param oldLikelihoods Vector of PL's corresponding to original alleles + * @param numChromosomes Ploidy (number of chromosomes describing PL's) + * @param originalAlleles List of original alleles + * @param allelesToSubset Alleles to subset + * @return Vector of new PL's, ordered accorrding to SumIterator's ordering + */ + public static double[] subsetToAlleles(final double[] oldLikelihoods, final int numChromosomes, + final List originalAlleles, final List allelesToSubset) { + + int newPLSize = PoolGenotypeLikelihoods.getNumLikelihoodElements(allelesToSubset.size(), numChromosomes); + double[] newPLs = new double[newPLSize]; + + + int idx = 0; + // First fill boolean array stating whether each original allele is present in new mapping + final boolean [] allelePresent = new boolean[originalAlleles.size()]; + for ( Allele allele : originalAlleles ) + allelePresent[idx++] = allelesToSubset.contains(allele); + + + // compute mapping from old idx to new idx + // This might be needed in case new allele set is not ordered in the same way as old set + // Example. Original alleles: {T*,C,G,A}. New alleles: {G,C}. Permutation key = [2,1] + + int[] permutationKey = new int[allelesToSubset.size()]; + for (int k=0; k < allelesToSubset.size(); k++) + // for each allele to subset, find corresponding index in original allele list + permutationKey[k] = originalAlleles.indexOf(allelesToSubset.get(k)); + + + if (VERBOSE) { + System.out.println("permutationKey:"+Arrays.toString(permutationKey)); + } + + final SumIterator iterator = new SumIterator(originalAlleles.size(),numChromosomes); + + while (iterator.hasNext()) { + // for each entry in logPL table, associated originally with allele count stored in vec[], + // see if this allele count conformation will be present in new logPL table. + // For entry to be present, elements in dimensions not present in requested allele list have to have count = 0 + int[] pVec = iterator.getCurrentVector(); + double pl = oldLikelihoods[iterator.getLinearIndex()]; + + boolean keyPresent = true; + for (int k=0; k < allelePresent.length; k++) + if ( pVec[k]>0 && !allelePresent[k] ) + keyPresent = false; + + if (keyPresent) {// skip to next entry in logPLs if this conformation is not present in subset + + final int[] newCount = new int[allelesToSubset.size()]; + + // map from old allele mapping count to new allele mapping + // In pseudo-Matlab notation: newCount = vec[permutationKey] for permutationKey vector + for (idx = 0; idx < newCount.length; idx++) + newCount[idx] = pVec[permutationKey[idx]]; + + // get corresponding index from new count + int outputIdx = PoolGenotypeLikelihoods.getLinearIndex(newCount, allelesToSubset.size(), numChromosomes); + newPLs[outputIdx] = pl; + if (VERBOSE) { + System.out.println("Old Key:"+Arrays.toString(pVec)); + System.out.println("New Key:"+Arrays.toString(newCount)); + } + } + iterator.next(); + } + + return newPLs; + } + + public static int getLinearIndex(int[] vectorIdx, int numAlleles, int ploidy) { + + if (ploidy <= 0) + return 0; + + int linearIdx = 0; + int cumSum = ploidy; + for (int k=numAlleles-1;k>=1; k--) { + int idx = vectorIdx[k]; + // how many blocks are before current position + if (idx == 0) + continue; + for (int p=0; p < idx; p++) + linearIdx += getNumLikelihoodElements( k, cumSum-p); + + cumSum -= idx; + } + + return linearIdx; + + } + + /** + * Given a scalar index, what's the alelle count conformation corresponding to it? + * @param nAlleles Number of alleles + * @param numChromosomes Ploidy + * @param PLindex Index to query + * @return Allele count conformation, according to iteration order from SumIterator + */ + public static int[] getAlleleCountFromPLIndex(final int nAlleles, final int numChromosomes, final int PLindex) { + + // todo - another brain-dead inefficient implementation, can do much better by computing in closed form + final SumIterator iterator = new SumIterator(nAlleles,numChromosomes); + while (iterator.hasNext()) { + final int[] plVec = iterator.getCurrentVector(); + if (iterator.getLinearIndex() == PLindex) + return plVec; + + iterator.next(); + } + + return null; + + } + + /* + * a cache of the PL ivector sizes as a function of # of alleles and pool sizes + */ + + public static int getNumLikelihoodElements(int numAlleles, int ploidy) { + return GenotypeLikelihoodVectorSizes[numAlleles][ploidy]; + } + + private final static int[][] GenotypeLikelihoodVectorSizes = fillGLVectorSizeCache(MAX_NUM_ALLELES_TO_CACHE, 2*MAX_NUM_SAMPLES_PER_POOL); + + private static int[][] fillGLVectorSizeCache(int maxAlleles, int maxPloidy) { + + int[][] cache = new int[maxAlleles][maxPloidy]; + for (int numAlleles=1; numAlleles < maxAlleles; numAlleles++) { + for (int ploidy=0; ploidy < maxPloidy; ploidy++) { + + if (numAlleles == 1) + cache[numAlleles][ploidy] = 1; + else if (ploidy == 1) + cache[numAlleles][ploidy] = numAlleles; + else { + int acc =0; + for (int k=0; k <= ploidy; k++ ) + acc += cache[numAlleles-1][ploidy-k]; + + cache[numAlleles][ploidy] = acc; + } + } + } + return cache; + } + + /** + * Return a string representation of this object in a moderately usable form + * + * @return string representation + */ + public String toString() { + StringBuilder s = new StringBuilder(1000); + + s.append("Alleles:"); + for (Allele a: this.alleles){ + s.append(a.getDisplayString()); + s.append(","); + } + s.append("\nGLs:\n"); + SumIterator iterator = new SumIterator(nAlleles,numChromosomes); + while (iterator.hasNext()) { + if (!Double.isInfinite(getLikelihoods()[iterator.getLinearIndex()])) { + + s.append("Count ["); + StringBuilder b = new StringBuilder(iterator.getCurrentVector().length*2); + for (int it:iterator.getCurrentVector()) { + b.append(it); + b.append(","); + } + s.append(b.toString()); + s.append(String.format("] GL=%4.3f\n",this.getLikelihoods()[iterator.getLinearIndex()]) ); + } + iterator.next(); + } + return s.toString(); + } + + + public void computeLikelihoods(ErrorModel errorModel, + List alleleList, List numObservations, ReadBackedPileup pileup) { + + if (FAST_GL_COMPUTATION) { + // queue up elements to be computed. Assumptions: + // GLs distributions are unimodal + // GLs are continuous + // Hence, once an AC conformation is computed, we queue up its immediate topological neighbors. + // If neighbors fall below maximum - threshold, we don't queue up THEIR own neighbors + // and we repeat until queue is empty + // queue of AC conformations to process + final LinkedList ACqueue = new LinkedList(); + // mapping of ExactACset indexes to the objects + final HashMap indexesToACset = new HashMap(likelihoodDim); + // add AC=0 to the queue + final int[] zeroCounts = new int[nAlleles]; + zeroCounts[0] = numChromosomes; + + AlleleFrequencyCalculationModel.ExactACset zeroSet = + new AlleleFrequencyCalculationModel.ExactACset(1, new AlleleFrequencyCalculationModel.ExactACcounts(zeroCounts)); + + ACqueue.add(zeroSet); + indexesToACset.put(zeroSet.ACcounts, zeroSet); + + // keep processing while we have AC conformations that need to be calculated + double maxLog10L = Double.NEGATIVE_INFINITY; + while ( !ACqueue.isEmpty() ) { + // compute log10Likelihoods + final AlleleFrequencyCalculationModel.ExactACset ACset = ACqueue.remove(); + final double log10LofKs = calculateACConformationAndUpdateQueue(ACset, errorModel, alleleList, numObservations, maxLog10L, ACqueue, indexesToACset, pileup); + + // adjust max likelihood seen if needed + maxLog10L = Math.max(maxLog10L, log10LofKs); + // clean up memory + indexesToACset.remove(ACset.ACcounts); + if ( VERBOSE ) + System.out.printf(" *** removing used set=%s%n", ACset.ACcounts); + + } + + + } else { + int plIdx = 0; + SumIterator iterator = new SumIterator(nAlleles, numChromosomes); + while (iterator.hasNext()) { + AlleleFrequencyCalculationModel.ExactACset ACset = + new AlleleFrequencyCalculationModel.ExactACset(1, new AlleleFrequencyCalculationModel.ExactACcounts(iterator.getCurrentVector())); + // for observed base X, add Q(jX,k) to likelihood vector for all k in error model + //likelihood(jA,jC,jG,jT) = logsum(logPr (errorModel[k],nA*Q(jA,k) + nC*Q(jC,k) + nG*Q(jG,k) + nT*Q(jT,k)) + getLikelihoodOfConformation(ACset, errorModel, alleleList, numObservations, pileup); + + setLogPLs(plIdx++, ACset.log10Likelihoods[0]); + iterator.next(); + } + } + // normalize PL's + renormalize(); + + } + + private double calculateACConformationAndUpdateQueue(final ExactAFCalculationModel.ExactACset set, + final ErrorModel errorModel, + final List alleleList, + final List numObservations, + final double maxLog10L, + final LinkedList ACqueue, + final HashMap indexesToACset, + final ReadBackedPileup pileup) { + // compute likelihood of set + getLikelihoodOfConformation(set, errorModel, alleleList, numObservations, pileup); + final double log10LofK = set.log10Likelihoods[0]; + + // log result in PL vector + int idx = getLinearIndex(set.ACcounts.getCounts(), nAlleles, numChromosomes); + setLogPLs(idx, log10LofK); + + // can we abort early because the log10Likelihoods are so small? + if ( log10LofK < maxLog10L - MAX_LOG10_ERROR_TO_STOP_EARLY ) { + if ( VERBOSE ) + System.out.printf(" *** breaking early set=%s log10L=%.2f maxLog10L=%.2f%n", set.ACcounts, log10LofK, maxLog10L); + return log10LofK; + } + + // iterate over higher frequencies if possible + // by convention, ACcounts contained in set have full vector of possible pool ac counts including ref count. + final int ACwiggle = numChromosomes - set.getACsum() + set.ACcounts.counts[0]; + if ( ACwiggle == 0 ) // all alternate alleles already sum to 2N so we cannot possibly go to higher frequencies + return log10LofK; + + + // add conformations for other cases + for ( int allele = 1; allele < nAlleles; allele++ ) { + final int[] ACcountsClone = set.ACcounts.getCounts().clone(); + ACcountsClone[allele]++; + // is this a valid conformation? + int altSum = (int)MathUtils.sum(ACcountsClone) - ACcountsClone[0]; + ACcountsClone[0] = numChromosomes - altSum; + if (ACcountsClone[0] < 0) + continue; + + + updateACset(ACcountsClone, ACqueue, indexesToACset); + } + return log10LofK; + + } + + /** + * Abstract methods, must be implemented in subclasses + * + * @param ACset Count to compute + * @param errorModel Site-specific error model object + * @param alleleList List of alleles + * @param numObservations Number of observations for each allele + * @param pileup Read backed pileup in case it's necessary + */ + public abstract void getLikelihoodOfConformation(final AlleleFrequencyCalculationModel.ExactACset ACset, + final ErrorModel errorModel, + final List alleleList, + final List numObservations, + final ReadBackedPileup pileup); + + + public abstract int add(ReadBackedPileup pileup, UnifiedArgumentCollection UAC); + + // Static methods + public static void updateACset(final int[] newSetCounts, + final LinkedList ACqueue, + final HashMap indexesToACset) { + + final AlleleFrequencyCalculationModel.ExactACcounts index = new AlleleFrequencyCalculationModel.ExactACcounts(newSetCounts); + if ( !indexesToACset.containsKey(index) ) { + AlleleFrequencyCalculationModel.ExactACset newSet = new AlleleFrequencyCalculationModel.ExactACset(1, index); + indexesToACset.put(index, newSet); + ACqueue.add(newSet); + if (VERBOSE) + System.out.println(" *** Adding set to queue:" + index.toString()); + } + + } + // ----------------------------------------------------------------------------------------------------------------- + // + // + // helper routines + // + // + // ----------------------------------------------------------------------------------------------------------------- + + + // + // Constant static data + // + + static { + // cache 10^(-k/10) + for (int j=0; j <= SAMUtils.MAX_PHRED_SCORE; j++) + qualVec[j] = Math.pow(10.0,-(double)j/10.0); + } + + private void fillCache() { + // cache Q(j,k) = log10(j/2N*(1-ek) + (2N-j)/2N*ek) for j = 0:2N + + logMismatchProbabilityArray = new double[1+numChromosomes][1+SAMUtils.MAX_PHRED_SCORE]; + for (int i=0; i <= numChromosomes; i++) { + for (int j=0; j <= SAMUtils.MAX_PHRED_SCORE; j++) { + double phi = (double)i/numChromosomes; + logMismatchProbabilityArray[i][j] = Math.log10(phi * (1.0-qualVec[j]) + qualVec[j]/3.0 * (1.0-phi)); + } + } + } + +} + diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypeLikelihoodsCalculationModel.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypeLikelihoodsCalculationModel.java new file mode 100644 index 000000000..37b676601 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypeLikelihoodsCalculationModel.java @@ -0,0 +1,353 @@ +/* + * Copyright (c) 2010, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.apache.log4j.Logger; +import org.broadinstitute.sting.gatk.contexts.AlignmentContext; +import org.broadinstitute.sting.gatk.contexts.AlignmentContextUtils; +import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.variantcontext.*; + +import java.util.*; + +public abstract class PoolGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsCalculationModel { + + //protected Set laneIDs; + public enum Model { + SNP, + INDEL, + POOLSNP, + POOLINDEL, + BOTH + } + + final protected UnifiedArgumentCollection UAC; + + protected PoolGenotypeLikelihoodsCalculationModel(UnifiedArgumentCollection UAC, Logger logger) { + super(UAC,logger); + this.UAC = UAC; + + } + + + /* + Get vc with alleles from reference sample. Can be null if there's no ref sample call or no ref sample coverage at this site. + */ + protected VariantContext getTrueAlleles(final RefMetaDataTracker tracker, + final ReferenceContext ref, + Map contexts) { + // Get reference base from VCF or Reference + if (UAC.referenceSampleName == null) + return null; + + AlignmentContext context = contexts.get(UAC.referenceSampleName); + ArrayList trueReferenceAlleles = new ArrayList(); + + VariantContext referenceSampleVC; + + if (tracker != null && context != null) + referenceSampleVC = tracker.getFirstValue(UAC.referenceSampleRod, context.getLocation()); + else + return null; + + if (referenceSampleVC == null) { + trueReferenceAlleles.add(Allele.create(ref.getBase(),true)); + return new VariantContextBuilder("pc",ref.getLocus().getContig(), ref.getLocus().getStart(), ref.getLocus().getStop(),trueReferenceAlleles).make(); + + } + else { + Genotype referenceGenotype = referenceSampleVC.getGenotype(UAC.referenceSampleName); + List referenceAlleles = referenceGenotype.getAlleles(); + + return new VariantContextBuilder("pc",referenceSampleVC.getChr(), referenceSampleVC.getStart(), referenceSampleVC.getEnd(), + referenceSampleVC.getAlleles()) + .referenceBaseForIndel(referenceSampleVC.getReferenceBaseForIndel()) + .genotypes(new GenotypeBuilder(UAC.referenceSampleName, referenceAlleles).GQ(referenceGenotype.getGQ()).make()) + .make(); + } + } + + + /** + * GATK Engine creates readgroups of the form XXX.Y.Z + * XXX.Y is the unique lane identifier. + * Z is the id of the sample to make the read group id unique + * This function returns the list of lane identifiers. + * + * @param readGroups readGroups A collection of read group strings (obtained from the alignment context pileup) + * @return a collection of lane ids. + */ + public static Set parseLaneIDs(Collection readGroups) { + HashSet result = new HashSet(); + for (String readGroup : readGroups) { + result.add(getLaneIDFromReadGroupString(readGroup)); + } + return result; + } + + /** + * GATK Engine creates readgroups of the form XXX.Y.Z + * XXX.Y is the unique lane identifier. + * Z is the id of the sample to make the read group id unique + * + * @param readGroupID the read group id string + * @return just the lane id (the XXX.Y string) + */ + public static String getLaneIDFromReadGroupString(String readGroupID) { + // System.out.println(readGroupID); + String [] parsedID = readGroupID.split("\\."); + if (parsedID.length > 1) + return parsedID[0] + "." + parsedID[1]; + else + return parsedID[0] + ".0"; + } + + + /** Wrapper class that encapsulates likelihood object and sample name + * + */ + protected static class PoolGenotypeData { + + public final String name; + public final PoolGenotypeLikelihoods GL; + public final int depth; + public final List alleles; + + public PoolGenotypeData(final String name, final PoolGenotypeLikelihoods GL, final int depth, final List alleles) { + this.name = name; + this.GL = GL; + this.depth = depth; + this.alleles = alleles; + } + } + + // determines the alleles to use + protected List determineAlternateAlleles(final List sampleDataList) { + + if (sampleDataList.isEmpty()) + return Collections.emptyList(); + + final int REFERENCE_IDX = 0; + final List allAlleles = sampleDataList.get(0).GL.getAlleles(); + double[] likelihoodSums = new double[allAlleles.size()]; + + // based on the GLs, find the alternate alleles with enough probability + for ( PoolGenotypeData sampleData : sampleDataList ) { + final Pair mlACPair = sampleData.GL.getMostLikelyACCount(); + final double topLogGL = mlACPair.second; + + if (sampleData.GL.getAlleles().size() != allAlleles.size()) + throw new ReviewedStingException("BUG: inconsistent size of alleles!"); + + // ref allele is always first in array list + if (sampleData.GL.alleles.get(0).isNonReference()) + throw new ReviewedStingException("BUG: first allele in list is not reference!"); + + double refGL = sampleData.GL.getLikelihoods()[REFERENCE_IDX]; + + // check if maximum likelihood AC is all-ref for current pool. If so, skip + if (mlACPair.first[REFERENCE_IDX] == sampleData.GL.numChromosomes) + continue; + + // most likely AC is not all-ref: for all non-ref alleles, add difference of max likelihood and all-ref likelihood + for (int i=0; i < mlACPair.first.length; i++) { + if (i==REFERENCE_IDX) continue; + + if (mlACPair.first[i] > 0) + likelihoodSums[i] += topLogGL - refGL; + + } + } + + final List allelesToUse = new ArrayList(); + for ( int i = 0; i < likelihoodSums.length; i++ ) { + if ( likelihoodSums[i] > 0.0 ) + allelesToUse.add(allAlleles.get(i)); + } + + return allelesToUse; + } + + + public VariantContext getLikelihoods(final RefMetaDataTracker tracker, + final ReferenceContext ref, + Map contexts, + final AlignmentContextUtils.ReadOrientation contextType, + final List allAllelesToUse, + final boolean useBAQedPileup, + final GenomeLocParser locParser) { + + HashMap perLaneErrorModels = getPerLaneErrorModels(tracker, ref, contexts); + if (perLaneErrorModels == null && UAC.referenceSampleName != null) + return null; + + if (UAC.TREAT_ALL_READS_AS_SINGLE_POOL) { + AlignmentContext mergedContext = AlignmentContextUtils.joinContexts(contexts.values()); + Map newContext = new HashMap(); + newContext.put(DUMMY_SAMPLE_NAME,mergedContext); + contexts = newContext; + } + + // get initial alleles to genotype + final List allAlleles = new ArrayList(); + if (allAllelesToUse == null || allAllelesToUse.isEmpty()) + allAlleles.addAll(getInitialAllelesToUse(tracker, ref,contexts,contextType,locParser, allAllelesToUse)); + else + allAlleles.addAll(allAllelesToUse); + + if (allAlleles.isEmpty()) + return null; + + final ArrayList GLs = new ArrayList(contexts.size()); + + for ( Map.Entry sample : contexts.entrySet() ) { + // skip reference sample + if (UAC.referenceSampleName != null && sample.getKey().equals(UAC.referenceSampleName)) + continue; + + ReadBackedPileup pileup = AlignmentContextUtils.stratify(sample.getValue(), contextType).getBasePileup(); + + // create the GenotypeLikelihoods object + final PoolGenotypeLikelihoods GL = getPoolGenotypeLikelihoodObject(allAlleles, null, UAC.samplePloidy, perLaneErrorModels, useBAQedPileup, ref, UAC.IGNORE_LANE_INFO); + // actually compute likelihoods + final int nGoodBases = GL.add(pileup, UAC); + if ( nGoodBases > 0 ) + // create wrapper object for likelihoods and add to list + GLs.add(new PoolGenotypeData(sample.getKey(), GL, getFilteredDepth(pileup), allAlleles)); + } + + // find the alternate allele(s) that we should be using + final List alleles = getFinalAllelesToUse(tracker, ref, allAllelesToUse, GLs); + + // start making the VariantContext + final GenomeLoc loc = ref.getLocus(); + final int endLoc = getEndLocation(tracker, ref, alleles); + + final VariantContextBuilder builder = new VariantContextBuilder("UG_call", loc.getContig(), loc.getStart(), endLoc, alleles); + builder.alleles(alleles); + + final HashMap attributes = new HashMap(); + + if (UAC.referenceSampleName != null && perLaneErrorModels != null) + attributes.put(VCFConstants.REFSAMPLE_DEPTH_KEY, ErrorModel.getTotalReferenceDepth(perLaneErrorModels)); + + builder.attributes(attributes); + // create the genotypes; no-call everyone for now + final GenotypesContext genotypes = GenotypesContext.create(); + final List noCall = new ArrayList(); + noCall.add(Allele.NO_CALL); + + for ( PoolGenotypeData sampleData : GLs ) { + // extract from multidimensional array + final double[] myLikelihoods = PoolGenotypeLikelihoods.subsetToAlleles(sampleData.GL.getLikelihoods(),sampleData.GL.numChromosomes, + allAlleles, alleles); + + // normalize in log space so that max element is zero. + final GenotypeBuilder gb = new GenotypeBuilder(sampleData.name, noCall); + gb.DP(sampleData.depth); + gb.PL(MathUtils.normalizeFromLog10(myLikelihoods, false, true)); + genotypes.add(gb.make()); + } + + return builder.genotypes(genotypes).make(); + + } + + + protected HashMap getPerLaneErrorModels(final RefMetaDataTracker tracker, + final ReferenceContext ref, + Map contexts) { + VariantContext refVC = getTrueAlleles(tracker, ref, contexts); + + + // Build error model for site based on reference sample, and keep stratified for each lane. + AlignmentContext refContext = null; + if (UAC.referenceSampleName != null) + refContext = contexts.get(UAC.referenceSampleName); + + ReadBackedPileup refPileup = null; + if (refContext != null) { + HashMap perLaneErrorModels = new HashMap(); + refPileup = refContext.getBasePileup(); + + Set laneIDs = new TreeSet(); + if (UAC.TREAT_ALL_READS_AS_SINGLE_POOL || UAC.IGNORE_LANE_INFO) + laneIDs.add(DUMMY_LANE); + else + laneIDs = parseLaneIDs(refPileup.getReadGroups()); + // build per-lane error model for all lanes present in ref sample + for (String laneID : laneIDs) { + // get reference pileup for this lane + ReadBackedPileup refLanePileup = refPileup; + // subset for this lane + if (refPileup != null && !(UAC.TREAT_ALL_READS_AS_SINGLE_POOL || UAC.IGNORE_LANE_INFO)) + refLanePileup = refPileup.getPileupForLane(laneID); + + //ReferenceSample referenceSample = new ReferenceSample(UAC.referenceSampleName, refLanePileup, trueReferenceAlleles); + perLaneErrorModels.put(laneID, new ErrorModel(UAC.minQualityScore, UAC.maxQualityScore, UAC.phredScaledPrior, refLanePileup, refVC, UAC.minPower)); + } + return perLaneErrorModels; + + } + else + return null; + + } + + /* + Abstract methods - must be implemented in derived classes + */ + + protected abstract PoolGenotypeLikelihoods getPoolGenotypeLikelihoodObject(final List alleles, + final double[] logLikelihoods, + final int ploidy, + final HashMap perLaneErrorModels, + final boolean useBQAedPileup, + final ReferenceContext ref, + final boolean ignoreLaneInformation); + + protected abstract List getInitialAllelesToUse(final RefMetaDataTracker tracker, + final ReferenceContext ref, + Map contexts, + final AlignmentContextUtils.ReadOrientation contextType, + final GenomeLocParser locParser, + final List allAllelesToUse); + + protected abstract List getFinalAllelesToUse(final RefMetaDataTracker tracker, + final ReferenceContext ref, + final List allAllelesToUse, + final ArrayList GLs); + + protected abstract int getEndLocation(final RefMetaDataTracker tracker, + final ReferenceContext ref, + final List alternateAllelesToUse); +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypePriors.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypePriors.java new file mode 100644 index 000000000..df5f6002b --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypePriors.java @@ -0,0 +1,58 @@ +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.broadinstitute.sting.gatk.walkers.indels.HaplotypeIndelErrorModel; +import org.broadinstitute.sting.utils.MathUtils; + +public class PoolGenotypePriors implements GenotypePriors { + private final double[] flatPriors; + private final double heterozygosity; + private final int samplesPerPool; + private double[] priors = null; + + /** + * Create a new DiploidGenotypePriors object with flat priors for each diploid genotype + */ + public PoolGenotypePriors(double heterozygosity, int samplesPerPool) { + flatPriors = new double[2*samplesPerPool+1]; + for (int k=0; k haplotypeMap; + final ReferenceContext refContext; + final int eventLength; + double[][] readHaplotypeLikelihoods; + + public PoolIndelGenotypeLikelihoods(final List alleles, + final double[] logLikelihoods, + final int ploidy, + final HashMap perLaneErrorModels, + final boolean ignoreLaneInformation, + final PairHMMIndelErrorModel pairModel, + final LinkedHashMap haplotypeMap, + final ReferenceContext referenceContext) { + super(alleles, logLikelihoods, ploidy, perLaneErrorModels, ignoreLaneInformation); + this.pairModel = pairModel; + this.haplotypeMap = haplotypeMap; + this.refContext = referenceContext; + this.eventLength = IndelGenotypeLikelihoodsCalculationModel.getEventLength(alleles); + } + + // ------------------------------------------------------------------------------------- + // + // add() routines. These are the workhorse routines for calculating the overall genotype + // likelihoods given observed bases and reads. Includes high-level operators all the + // way down to single base and qual functions. + // + // ------------------------------------------------------------------------------------- + + /** + * Updates likelihoods and posteriors to reflect the additional observations contained within the + * read-based pileup up by calling add(observedBase, qualityScore) for each base / qual in the + * pileup + * + * @param pileup read pileup + * @param UAC the minimum base quality at which to consider a base valid + * @return the number of good bases found in the pileup + */ + public int add(ReadBackedPileup pileup, UnifiedArgumentCollection UAC) { + int n = 0; + + if (!hasReferenceSampleData) { + // no error models + return add(pileup, (ErrorModel)null); + } + for (String laneID : perLaneErrorModels.keySet() ) { + // get pileup for this lane + ReadBackedPileup perLanePileup; + if (ignoreLaneInformation) + perLanePileup = pileup; + else + perLanePileup = pileup.getPileupForLane(laneID); + + if (perLanePileup == null || perLanePileup.isEmpty()) + continue; + + ErrorModel errorModel = perLaneErrorModels.get(laneID); + n += add(perLanePileup, errorModel); + if (ignoreLaneInformation) + break; + + } + + return n; + } + + /** + * Calculates the pool's probability for all possible allele counts for all indel alleles observed. + * Calculation is based on the error model + * generated by the reference sample on the same lane. The probability is given by : + * + * Pr(ac = j1,j2,.. | pool, errorModel) = sum_over_all_Qs ( Pr(j1,j2,.. * Pr(errorModel_q) * + * Pr(ac=j1,j2,..| pool, errorModel) = sum_over_all_Qs ( Pr(ac=j1,j2,..) * Pr(errorModel_q) * + * [j1 * (1-eq)/2n + eq/3*(2*N-j1) + * [jA*(1-eq)/2n + eq/3*(jc+jg+jt)/2N)^nA * jC*(1-eq)/2n + eq/3*(ja+jg+jt)/2N)^nC * + * jG*(1-eq)/2n + eq/3*(jc+ja+jt)/2N)^nG * jT*(1-eq)/2n + eq/3*(jc+jg+ja)/2N)^nT + * + * log Pr(ac=jA,jC,jG,jT| pool, errorModel) = logsum( Pr(ac=jA,jC,jG,jT) * Pr(errorModel_q) * + * [jA*(1-eq)/2n + eq/3*(jc+jg+jt)/2N)^nA * jC*(1-eq)/2n + eq/3*(ja+jg+jt)/2N)^nC * + * jG*(1-eq)/2n + eq/3*(jc+ja+jt)/2N)^nG * jT*(1-eq)/2n + eq/3*(jc+jg+ja)/2N)^nT) + * = logsum(logPr(ac=jA,jC,jG,jT) + log(Pr(error_Model(q) + * )) + nA*log(jA/2N(1-eq)+eq/3*(2N-jA)/2N) + nC*log(jC/2N(1-eq)+eq/3*(2N-jC)/2N) + * + log(jG/2N(1-eq)+eq/3*(2N-jG)/2N) + log(jT/2N(1-eq)+eq/3*(2N-jT)/2N) + * + * Let Q(j,k) = log(j/2N*(1-e[k]) + (2N-j)/2N*e[k]/3) + * + * Then logPr(ac=jA,jC,jG,jT|D,errorModel) = logPR(ac=Ja,jC,jG,jT) + logsum_k( logPr (errorModel[k], + * nA*Q(jA,k) + nC*Q(jC,k) + nG*Q(jG,k) + nT*Q(jT,k)) + * + * If pileup data comes from several error models (because lanes can have different error models), + * Pr(Ac=j|D,E1,E2) = sum(Pr(AC1=j1|D,E1,E2) * Pr(AC2=j-j2|D,E1,E2)) + * = sum(Pr(AC1=j1|D,E1)*Pr(AC2=j-j1|D,E2)) from j=0..2N + * + * So, for each lane, build error model and combine lanes. + * To store model, can do + * for jA=0:2N + * for jC = 0:2N-jA + * for jG = 0:2N-jA-jC + * for jT = 0:2N-jA-jC-jG + * Q(jA,jC,jG,jT) + * for k = minSiteQual:maxSiteQual + * likelihood(jA,jC,jG,jT) = logsum(logPr (errorModel[k],nA*Q(jA,k) + nC*Q(jC,k) + nG*Q(jG,k) + nT*Q(jT,k)) + * + * + * + * where: nA,nC,nG,nT = counts of bases observed in pileup. + * + * + * @param pileup Base pileup + * @param errorModel Site error model + * @return Number of bases added + */ + private int add(ReadBackedPileup pileup, ErrorModel errorModel) { + int n=0; + + // Number of alleless in pileup, in that order + List numSeenBases = new ArrayList(this.alleles.size()); + + if (!hasReferenceSampleData) { + final int numHaplotypes = haplotypeMap.size(); + + final int readCounts[] = new int[pileup.getNumberOfElements()]; + readHaplotypeLikelihoods = pairModel.computeGeneralReadHaplotypeLikelihoods(pileup, haplotypeMap, refContext, eventLength, PoolIndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap(), readCounts); + n = readHaplotypeLikelihoods.length; + } else { + Allele refAllele = null; + for (Allele a:alleles) { + numSeenBases.add(0); + if (a.isReference()) + refAllele = a; + } + + if (refAllele == null) + throw new ReviewedStingException("BUG: no ref alleles in passed in allele list!"); + + // count number of elements in pileup + for (PileupElement elt : pileup) { + if (VERBOSE) + System.out.format("base:%s isNextToDel:%b isNextToIns:%b eventBases:%s eventLength:%d\n",elt.getBase(), elt.isBeforeDeletionStart(),elt.isBeforeInsertion(),elt.getEventBases(),elt.getEventLength()); + int idx =0; + for (Allele allele : alleles) { + int cnt = numSeenBases.get(idx); + numSeenBases.set(idx++,cnt + (ErrorModel.pileupElementMatches(elt, allele, refAllele)?1:0)); + } + + n++; + + } + } + computeLikelihoods(errorModel, alleles, numSeenBases, pileup); + return n; + } + + + + /** + * Compute likelihood of current conformation + * + * @param ACset Count to compute + * @param errorModel Site-specific error model object + * @param alleleList List of alleles + * @param numObservations Number of observations for each allele in alleleList + */ + public void getLikelihoodOfConformation(final AlleleFrequencyCalculationModel.ExactACset ACset, + final ErrorModel errorModel, + final List alleleList, + final List numObservations, + final ReadBackedPileup pileup) { + final int[] currentCnt = Arrays.copyOf(ACset.ACcounts.counts, alleleList.size()); + double p1 = 0.0; + + if (!hasReferenceSampleData) { + // no error model: use pair HMM likelihoods + for (int i=0; i < readHaplotypeLikelihoods.length; i++) { + double acc[] = new double[alleleList.size()]; + for (int k=0; k < acc.length; k++ ) + acc[k] = readHaplotypeLikelihoods[i][k] + MathUtils.log10Cache[currentCnt[k]]-LOG10_PLOIDY; + p1 += MathUtils.log10sumLog10(acc); + } + + } else { + final int minQ = errorModel.getMinSignificantQualityScore(); + final int maxQ = errorModel.getMaxSignificantQualityScore(); + final double[] acVec = new double[maxQ - minQ + 1]; + + + for (int k=minQ; k<=maxQ; k++) { + int idx=0; + for (int n : numObservations) + acVec[k-minQ] += n*logMismatchProbabilityArray[currentCnt[idx++]][k]; + } + p1 = MathUtils.logDotProduct(errorModel.getErrorModelVector().getProbabilityVector(minQ, maxQ), acVec); + } + ACset.log10Likelihoods[0] = p1; + } +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolIndelGenotypeLikelihoodsCalculationModel.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolIndelGenotypeLikelihoodsCalculationModel.java new file mode 100644 index 000000000..c2bac4455 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolIndelGenotypeLikelihoodsCalculationModel.java @@ -0,0 +1,132 @@ +/* + * Copyright (c) 2010. + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.apache.log4j.Logger; +import org.broadinstitute.sting.gatk.contexts.AlignmentContext; +import org.broadinstitute.sting.gatk.contexts.AlignmentContextUtils; +import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; +import org.broadinstitute.sting.gatk.walkers.indels.PairHMMIndelErrorModel; +import org.broadinstitute.sting.utils.*; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.variantcontext.*; + +import java.util.*; + +public class PoolIndelGenotypeLikelihoodsCalculationModel extends PoolGenotypeLikelihoodsCalculationModel { + private static final int MAX_NUM_ALLELES_TO_GENOTYPE = 4; + + private PairHMMIndelErrorModel pairModel; + private boolean allelesArePadded = false; + /* + private static ThreadLocal>> indelLikelihoodMap = + new ThreadLocal>>() { + protected synchronized HashMap> initialValue() { + return new HashMap>(); + } + }; + */ + + private LinkedHashMap haplotypeMap; + + /* + static { + indelLikelihoodMap.set(new HashMap>()); + } + */ + + protected PoolIndelGenotypeLikelihoodsCalculationModel(final UnifiedArgumentCollection UAC, final Logger logger) { + super(UAC, logger); + + + pairModel = new PairHMMIndelErrorModel(UAC.INDEL_GAP_OPEN_PENALTY, UAC.INDEL_GAP_CONTINUATION_PENALTY, + UAC.OUTPUT_DEBUG_INDEL_INFO, !UAC.DONT_DO_BANDED_INDEL_COMPUTATION); + haplotypeMap = new LinkedHashMap(); + } + + + public static HashMap> getIndelLikelihoodMap() { + return IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap(); + } + + + + protected PoolGenotypeLikelihoods getPoolGenotypeLikelihoodObject(final List alleles, + final double[] logLikelihoods, + final int ploidy, + final HashMap perLaneErrorModels, + final boolean useBQAedPileup, + final ReferenceContext ref, + final boolean ignoreLaneInformation){ + return new PoolIndelGenotypeLikelihoods(alleles, logLikelihoods, ploidy,perLaneErrorModels,ignoreLaneInformation, pairModel, haplotypeMap, ref); + } + + protected List getInitialAllelesToUse(final RefMetaDataTracker tracker, + final ReferenceContext ref, + final Map contexts, + final AlignmentContextUtils.ReadOrientation contextType, + final GenomeLocParser locParser, + final List allAllelesToUse){ + + + final Pair,Boolean> pair = IndelGenotypeLikelihoodsCalculationModel.getInitialAlleleList(tracker, ref, contexts, contextType, locParser, UAC,true); + List alleles = pair.first; + + if (alleles.size() > MAX_NUM_ALLELES_TO_GENOTYPE) + alleles = alleles.subList(0,MAX_NUM_ALLELES_TO_GENOTYPE); + allelesArePadded = pair.second; + if (contextType == AlignmentContextUtils.ReadOrientation.COMPLETE) { + IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap().clear(); + haplotypeMap.clear(); + } + IndelGenotypeLikelihoodsCalculationModel.getHaplotypeMapFromAlleles(alleles, ref, ref.getLocus(), haplotypeMap); + return alleles; + + } + + protected List getFinalAllelesToUse(final RefMetaDataTracker tracker, + final ReferenceContext ref, + final List allAllelesToUse, + final ArrayList GLs) { + + // find the alternate allele(s) that we should be using + final List alleles = new ArrayList(); + if ( allAllelesToUse != null ) + alleles.addAll(allAllelesToUse); + else if (!GLs.isEmpty()) + alleles.addAll(GLs.get(0).alleles); + return alleles; + + } + + protected int getEndLocation(final RefMetaDataTracker tracker, + final ReferenceContext ref, + final List allelesToUse) { + return IndelGenotypeLikelihoodsCalculationModel.computeEndLocation(allelesToUse, ref.getLocus(), allelesArePadded); + } +} \ No newline at end of file diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolSNPGenotypeLikelihoods.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolSNPGenotypeLikelihoods.java new file mode 100644 index 000000000..1e445270f --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolSNPGenotypeLikelihoods.java @@ -0,0 +1,350 @@ +package org.broadinstitute.sting.gatk.walkers.genotyper; + + +import net.sf.samtools.SAMUtils; +import org.broadinstitute.sting.utils.BaseUtils; +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.baq.BAQ; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileupImpl; +import org.broadinstitute.sting.utils.variantcontext.Allele; + +import java.util.*; + +import static java.lang.Math.log10; +import static java.lang.Math.pow; + + +/** + * Stable, error checking version of the pool genotyper. Useful for calculating the likelihoods, priors, + * and posteriors given a pile of bases and quality scores + * +*/ +public class PoolSNPGenotypeLikelihoods extends PoolGenotypeLikelihoods/* implements Cloneable*/ { + + final List myAlleles; + final int[] alleleIndices; + final boolean useBAQedPileup; + final byte refByte; + int mbq; + //final double[] PofDGivenBase; + + protected static final double[][][] qualLikelihoodCache; + /** + * Create a new GenotypeLikelhoods object with given priors and PCR error rate for each pool genotype + * @param alleles Alleles associated with this likelihood object + * @param logLikelihoods Likelihoods (can be null if no likelihoods known) + * @param ploidy Ploidy of sample (# of chromosomes) + * @param perLaneErrorModels error model objects for each lane + * @param useBQAedPileup Use BAQed pileup + * @param ignoreLaneInformation If true, lane info is ignored + */ + public PoolSNPGenotypeLikelihoods(final List alleles, final double[] logLikelihoods, final int ploidy, + final HashMap perLaneErrorModels, final boolean useBQAedPileup,final boolean ignoreLaneInformation) { + super(alleles, logLikelihoods, ploidy, perLaneErrorModels, ignoreLaneInformation); + this.useBAQedPileup = useBQAedPileup; + + myAlleles = new ArrayList(alleles); + + refByte = alleles.get(0).getBases()[0]; // by construction, first allele in list is always ref! + + if (myAlleles.size() < BaseUtils.BASES.length) { + // likelihood only defined for subset of possible alleles. Fill then with other alleles to have all possible ones, + for (byte b : BaseUtils.BASES) { + // if base is not included in myAlleles, add new allele + boolean isRef = (b==refByte); + if (!myAlleles.contains(Allele.create(b,isRef))) + myAlleles.add(Allele.create(b,isRef)); + + } + + } + + + // compute permutation vector to figure out mapping from indices to bases + int idx = 0; + alleleIndices = new int[myAlleles.size()]; + for (byte b : BaseUtils.BASES) { + boolean isRef = (b==refByte); + alleleIndices[idx++] = myAlleles.indexOf(Allele.create(b,isRef)); + } + + } + + // ------------------------------------------------------------------------------------- + // + // add() routines. These are the workhorse routines for calculating the overall genotype + // likelihoods given observed bases and reads. Includes high-level operators all the + // way down to single base and qual functions. + // + // ------------------------------------------------------------------------------------- + + public int add(ReadBackedPileup pileup, UnifiedArgumentCollection UAC) { + mbq = UAC.MIN_BASE_QUALTY_SCORE; // record for later use + return add(pileup, true, true, mbq); + } + + /** + * Updates likelihoods and posteriors to reflect the additional observations contained within the + * read-based pileup up by calling add(observedBase, qualityScore) for each base / qual in the + * pileup + * + * @param pileup read pileup + * @param ignoreBadBases should we ignore bad bases? + * @param capBaseQualsAtMappingQual should we cap a base's quality by its read's mapping quality? + * @param minBaseQual the minimum base quality at which to consider a base valid + * @return the number of good bases found in the pileup + */ + public int add(ReadBackedPileup pileup, boolean ignoreBadBases, boolean capBaseQualsAtMappingQual, int minBaseQual) { + int n = 0; + + if ( useBAQedPileup ) + pileup = createBAQedPileup( pileup ); + + if (!hasReferenceSampleData) { + return add(pileup, ignoreBadBases, capBaseQualsAtMappingQual, minBaseQual, null); + } + + for (String laneID : perLaneErrorModels.keySet() ) { + // get pileup for this lane + ReadBackedPileup perLanePileup; + if (ignoreLaneInformation) + perLanePileup = pileup; + else + perLanePileup = pileup.getPileupForLane(laneID); + + if (perLanePileup == null || perLanePileup.isEmpty()) + continue; + + ErrorModel errorModel = perLaneErrorModels.get(laneID); + n += add(perLanePileup, ignoreBadBases, capBaseQualsAtMappingQual, minBaseQual, errorModel); + if (ignoreLaneInformation) + break; + + } + + return n; + } + + /** + * Calculates the pool's probability for all possible allele counts for all bases. Calculation is based on the error model + * generated by the reference sample on the same lane. The probability is given by : + * + * Pr(ac=jA,jC,jG,jT| pool, errorModel) = sum_over_all_Qs ( Pr(ac=jA,jC,jG,jT) * Pr(errorModel_q) * + * [jA*(1-eq)/2n + eq/3*(jc+jg+jt)/2N)^nA * jC*(1-eq)/2n + eq/3*(ja+jg+jt)/2N)^nC * + * jG*(1-eq)/2n + eq/3*(jc+ja+jt)/2N)^nG * jT*(1-eq)/2n + eq/3*(jc+jg+ja)/2N)^nT + * + * log Pr(ac=jA,jC,jG,jT| pool, errorModel) = logsum( Pr(ac=jA,jC,jG,jT) * Pr(errorModel_q) * + * [jA*(1-eq)/2n + eq/3*(jc+jg+jt)/2N)^nA * jC*(1-eq)/2n + eq/3*(ja+jg+jt)/2N)^nC * + * jG*(1-eq)/2n + eq/3*(jc+ja+jt)/2N)^nG * jT*(1-eq)/2n + eq/3*(jc+jg+ja)/2N)^nT) + * = logsum(logPr(ac=jA,jC,jG,jT) + log(Pr(error_Model(q) + * )) + nA*log(jA/2N(1-eq)+eq/3*(2N-jA)/2N) + nC*log(jC/2N(1-eq)+eq/3*(2N-jC)/2N) + * + log(jG/2N(1-eq)+eq/3*(2N-jG)/2N) + log(jT/2N(1-eq)+eq/3*(2N-jT)/2N) + * + * Let Q(j,k) = log(j/2N*(1-e[k]) + (2N-j)/2N*e[k]/3) + * + * Then logPr(ac=jA,jC,jG,jT|D,errorModel) = logPR(ac=Ja,jC,jG,jT) + logsum_k( logPr (errorModel[k], + * nA*Q(jA,k) + nC*Q(jC,k) + nG*Q(jG,k) + nT*Q(jT,k)) + * + * If pileup data comes from several error models (because lanes can have different error models), + * Pr(Ac=j|D,E1,E2) = sum(Pr(AC1=j1|D,E1,E2) * Pr(AC2=j-j2|D,E1,E2)) + * = sum(Pr(AC1=j1|D,E1)*Pr(AC2=j-j1|D,E2)) from j=0..2N + * + * So, for each lane, build error model and combine lanes. + * To store model, can do + * for jA=0:2N + * for jC = 0:2N-jA + * for jG = 0:2N-jA-jC + * for jT = 0:2N-jA-jC-jG + * Q(jA,jC,jG,jT) + * for k = minSiteQual:maxSiteQual + * likelihood(jA,jC,jG,jT) = logsum(logPr (errorModel[k],nA*Q(jA,k) + nC*Q(jC,k) + nG*Q(jG,k) + nT*Q(jT,k)) + * + * + * + * where: nA,nC,nG,nT = counts of bases observed in pileup. + * + * + * @param pileup Base pileup + * @param ignoreBadBases Whether to ignore bad bases + * @param capBaseQualsAtMappingQual Cap base at mapping qual + * @param minBaseQual Minimum base quality to consider + * @param errorModel Site error model + * @return Number of bases added + */ + private int add(ReadBackedPileup pileup, boolean ignoreBadBases, boolean capBaseQualsAtMappingQual, int minBaseQual, ErrorModel errorModel) { + // Number of [A C G T]'s in pileup, in that order + List numSeenBases = new ArrayList(BaseUtils.BASES.length); + for (byte b: BaseUtils.BASES) + numSeenBases.add(0); + + if (hasReferenceSampleData) { + // count number of elements in pileup + for (PileupElement elt : pileup) { + byte obsBase = elt.getBase(); + byte qual = qualToUse(elt, ignoreBadBases, capBaseQualsAtMappingQual, minBaseQual); + if ( qual == 0 ) + continue; + + int idx = 0; + + for (byte base:BaseUtils.BASES) { + int cnt = numSeenBases.get(idx); + numSeenBases.set(idx++,cnt + (base == obsBase?1:0)); + + } + + } + if (VERBOSE) + System.out.format("numSeenBases: %d %d %d %d\n",numSeenBases.get(0),numSeenBases.get(1),numSeenBases.get(2),numSeenBases.get(3)); + } + computeLikelihoods(errorModel, myAlleles, numSeenBases, pileup); + return pileup.getNumberOfElements(); + } + + /** + * Compute likelihood of current conformation + * + * @param ACset Count to compute + * @param errorModel Site-specific error model object + * @param alleleList List of alleles + * @param numObservations Number of observations for each allele in alleleList + */ + public void getLikelihoodOfConformation(final AlleleFrequencyCalculationModel.ExactACset ACset, + final ErrorModel errorModel, + final List alleleList, + final List numObservations, + final ReadBackedPileup pileup) { + final int[] currentCnt = Arrays.copyOf(ACset.ACcounts.counts, BaseUtils.BASES.length); + final int[] ac = new int[BaseUtils.BASES.length]; + + for (int k=0; k < BaseUtils.BASES.length; k++ ) + ac[k] = currentCnt[alleleIndices[k]]; + + double p1 = 0.0; + + if (!hasReferenceSampleData) { + // no error model: loop throught pileup to compute likalihoods just on base qualities + for (final PileupElement elt : pileup) { + final byte obsBase = elt.getBase(); + final byte qual = qualToUse(elt, true, true, mbq); + if ( qual == 0 ) + continue; + final double acc[] = new double[ACset.ACcounts.counts.length]; + for (int k=0; k < acc.length; k++ ) + acc[k] = qualLikelihoodCache[BaseUtils.simpleBaseToBaseIndex(alleleList.get(k).getBases()[0])][BaseUtils.simpleBaseToBaseIndex(obsBase)][qual] +MathUtils.log10Cache[ACset.ACcounts.counts[k]] + - LOG10_PLOIDY; + p1 += MathUtils.log10sumLog10(acc); + } + } + else { + final int minQ = errorModel.getMinSignificantQualityScore(); + final int maxQ = errorModel.getMaxSignificantQualityScore(); + final double[] acVec = new double[maxQ - minQ + 1]; + + final int nA = numObservations.get(0); + final int nC = numObservations.get(1); + final int nG = numObservations.get(2); + final int nT = numObservations.get(3); + + + for (int k=minQ; k<=maxQ; k++) + acVec[k-minQ] = nA*logMismatchProbabilityArray[ac[0]][k] + + nC*logMismatchProbabilityArray[ac[1]][k] + + nG*logMismatchProbabilityArray[ac[2]][k] + + nT*logMismatchProbabilityArray[ac[3]][k]; + + p1 = MathUtils.logDotProduct(errorModel.getErrorModelVector().getProbabilityVector(minQ,maxQ), acVec); + } + ACset.log10Likelihoods[0] = p1; + /* System.out.println(Arrays.toString(ACset.ACcounts.getCounts())+" "+String.valueOf(p1)); + System.out.println(Arrays.toString(errorModel.getErrorModelVector().getProbabilityVector(minQ,maxQ))); + */ + } + + public ReadBackedPileup createBAQedPileup( final ReadBackedPileup pileup ) { + final List BAQedElements = new ArrayList(); + for( final PileupElement PE : pileup ) { + final PileupElement newPE = new BAQedPileupElement( PE ); + BAQedElements.add( newPE ); + } + return new ReadBackedPileupImpl( pileup.getLocation(), BAQedElements ); + } + + public class BAQedPileupElement extends PileupElement { + public BAQedPileupElement( final PileupElement PE ) { + super(PE.getRead(), PE.getOffset(), PE.isDeletion(), PE.isBeforeDeletedBase(), PE.isAfterDeletedBase(), PE.isBeforeInsertion(), PE.isAfterInsertion(), PE.isNextToSoftClip()); + } + + @Override + public byte getQual( final int offset ) { return BAQ.calcBAQFromTag(getRead(), offset, true); } + } + + + /** + * Helper function that returns the phred-scaled base quality score we should use for calculating + * likelihoods for a pileup element. May return 0 to indicate that the observation is bad, and may + * cap the quality score by the mapping quality of the read itself. + * + * @param p Pileup element + * @param ignoreBadBases Flag to ignore bad bases + * @param capBaseQualsAtMappingQual Whether to cap base Q at mapping quality + * @param minBaseQual Min qual to use + * @return New phred-scaled base quality + */ + private static byte qualToUse(PileupElement p, boolean ignoreBadBases, boolean capBaseQualsAtMappingQual, int minBaseQual) { + if ( ignoreBadBases && !BaseUtils.isRegularBase( p.getBase() ) ) + return 0; + + byte qual = p.getQual(); + + if ( qual > SAMUtils.MAX_PHRED_SCORE ) + throw new UserException.MalformedBAM(p.getRead(), String.format("the maximum allowed quality score is %d, but a quality of %d was observed in read %s. Perhaps your BAM incorrectly encodes the quality scores in Sanger format; see http://en.wikipedia.org/wiki/FASTQ_format for more details", SAMUtils.MAX_PHRED_SCORE, qual, p.getRead().getReadName())); + if ( capBaseQualsAtMappingQual ) + qual = (byte)Math.min((int)qual, p.getMappingQual()); + if ( (int)qual < minBaseQual ) + qual = (byte)0; + + return qual; + } + + static { + qualLikelihoodCache = new double[BaseUtils.BASES.length][BaseUtils.BASES.length][1+SAMUtils.MAX_PHRED_SCORE]; + for (byte j=0; j <= SAMUtils.MAX_PHRED_SCORE; j++) { + for (byte b1:BaseUtils.BASES) { + for (byte b2:BaseUtils.BASES) { + qualLikelihoodCache[BaseUtils.simpleBaseToBaseIndex(b1)][BaseUtils.simpleBaseToBaseIndex(b2)][j] = log10PofObservingBaseGivenChromosome(b1,b2,j); + } + } + } + + } + + /** + * + * @param observedBase observed base + * @param chromBase target base + * @param qual base quality + * @return log10 likelihood + */ + private static double log10PofObservingBaseGivenChromosome(byte observedBase, byte chromBase, byte qual) { + final double log10_3 = log10(3.0); + double logP; + + if ( observedBase == chromBase ) { + // the base is consistent with the chromosome -- it's 1 - e + //logP = oneMinusData[qual]; + double e = pow(10, (qual / -10.0)); + logP = log10(1.0 - e); + } else { + // the base is inconsistent with the chromosome -- it's e * P(chromBase | observedBase is an error) + logP = qual / -10.0 + (-log10_3); + } + + //System.out.printf("%c %c %d => %f%n", observedBase, chromBase, qual, logP); + return logP; + } + +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolSNPGenotypeLikelihoodsCalculationModel.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolSNPGenotypeLikelihoodsCalculationModel.java new file mode 100644 index 000000000..61f505445 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PoolSNPGenotypeLikelihoodsCalculationModel.java @@ -0,0 +1,128 @@ +package org.broadinstitute.sting.gatk.walkers.genotyper; +/* + * Copyright (c) 2010. + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + + +import org.apache.log4j.Logger; +import org.broadinstitute.sting.gatk.contexts.AlignmentContext; +import org.broadinstitute.sting.gatk.contexts.AlignmentContextUtils; +import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; +import org.broadinstitute.sting.utils.*; +import org.broadinstitute.sting.utils.variantcontext.*; + +import java.util.*; + +public class PoolSNPGenotypeLikelihoodsCalculationModel extends PoolGenotypeLikelihoodsCalculationModel { + + + protected PoolSNPGenotypeLikelihoodsCalculationModel( UnifiedArgumentCollection UAC, Logger logger) { + super(UAC, logger); + + } + + protected PoolGenotypeLikelihoods getPoolGenotypeLikelihoodObject(final List alleles, + final double[] logLikelihoods, + final int ploidy, + final HashMap perLaneErrorModels, + final boolean useBQAedPileup, + final ReferenceContext ref, + final boolean ignoreLaneInformation) { + return new PoolSNPGenotypeLikelihoods(alleles, null, UAC.samplePloidy, perLaneErrorModels, useBQAedPileup, UAC.IGNORE_LANE_INFO); + } + + protected List getInitialAllelesToUse(final RefMetaDataTracker tracker, + final ReferenceContext ref, + Map contexts, + final AlignmentContextUtils.ReadOrientation contextType, + final GenomeLocParser locParser, + final List allAllelesToUse) { + + if (allAllelesToUse != null) + return allAllelesToUse; + + + final byte refBase = ref.getBase(); + final List allAlleles = new ArrayList(); + // first add ref allele + allAlleles.add(Allele.create(refBase, true)); + // add all possible alt alleles + for (byte b: BaseUtils.BASES) { + if (refBase != b) + allAlleles.add(Allele.create(b)); + } + + return allAlleles; + } + + protected List getFinalAllelesToUse(final RefMetaDataTracker tracker, + final ReferenceContext ref, + final List allAllelesToUse, + final ArrayList GLs) { + // find the alternate allele(s) that we should be using + final List alleles = new ArrayList(); + if ( allAllelesToUse != null ) { + alleles.addAll(allAllelesToUse); + } else if ( UAC.GenotypingMode == GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ) { + final VariantContext vc = UnifiedGenotyperEngine.getVCFromAllelesRod(tracker, ref, ref.getLocus(), true, logger, UAC.alleles); + + // ignore places where we don't have a SNP + if ( vc == null || !vc.isSNP() ) + return null; + + alleles.addAll(vc.getAlleles()); + } else { + + alleles.add(Allele.create(ref.getBase(),true)); + alleles.addAll(determineAlternateAlleles( GLs)); + + // if there are no non-ref alleles... + if ( alleles.size() == 1 ) { + final int indexOfRefBase = BaseUtils.simpleBaseToBaseIndex(ref.getBase()); + // if we only want variants, then we don't need to calculate genotype likelihoods + if ( UAC.OutputMode != UnifiedGenotyperEngine.OUTPUT_MODE.EMIT_VARIANTS_ONLY ) + // otherwise, choose any alternate allele (it doesn't really matter) + alleles.add(Allele.create(BaseUtils.baseIndexToSimpleBase(indexOfRefBase == 0 ? 1 : 0))); + } + } + return alleles; + } + + /** + * @param tracker dummy parameter here + * @param ref Reference context + * @param alternateAllelesToUse alt allele list + * @return end location for vc to be created + */ + protected int getEndLocation(final RefMetaDataTracker tracker, + final ReferenceContext ref, + final List alternateAllelesToUse) { + // for SNPs, end loc is is the same as start loc + return ref.getLocus().getStart(); + + } + + +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ProbabilityVector.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ProbabilityVector.java new file mode 100644 index 000000000..c2fe47911 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ProbabilityVector.java @@ -0,0 +1,159 @@ +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.util.Arrays; + +/** + * Created by IntelliJ IDEA. + * User: delangel + * Date: 4/11/12 + * Time: 10:25 AM + * To change this template use File | Settings | File Templates. + */ +public class ProbabilityVector { + private final double[] probabilityArray; + private final int minVal; + private final int maxVal; + + final static double LOG_DYNAMIC_RANGE = 10; // values X below max vector value will be removed + + /** + * Default constructor: take vector in log-space, with support from range [0,len-1] + * @param vec Probability (or likelihood) vector in log space + * @param compressRange If true, compress by eliminating edges with little support + */ + public ProbabilityVector(double[] vec, boolean compressRange) { + + int maxValIdx = MathUtils.maxElementIndex(vec); + double maxv = vec[maxValIdx]; + if (maxv > 0.0) + throw new ReviewedStingException("BUG: Attempting to create a log-probability vector with positive elements"); + + if (compressRange) { + minVal = getMinIdx(vec, maxValIdx); + maxVal = getMaxIdx(vec, maxValIdx); + probabilityArray = Arrays.copyOfRange(vec, minVal, maxVal+1); + + } else { + probabilityArray = vec; + minVal = 0; + maxVal = vec.length-1; + + } + } + + public ProbabilityVector(double[] vec) { + this(vec,true); + } + + public ProbabilityVector(ProbabilityVector other, boolean compressRange) { + // create new probability vector from other. + this(other.getUncompressedProbabilityVector(), compressRange); + + } + public int getMinVal() { return minVal;} + public int getMaxVal() { return maxVal;} + public double[] getProbabilityVector() { return probabilityArray;} + + public double[] getProbabilityVector(int minVal, int maxVal) { + // get vector in specified range. If range is outside of current vector, fill with negative infinities + double[] x = new double[maxVal - minVal + 1]; + + for (int k=minVal; k <= maxVal; k++) + x[k-minVal] = getLogProbabilityForIndex(k); + + + return x; + } + + public double[] getUncompressedProbabilityVector() { + double x[] = new double[maxVal+1]; + + for (int i=0; i < minVal; i++) + x[i] = Double.NEGATIVE_INFINITY; + for (int i=minVal; i <=maxVal; i++) + x[i] = probabilityArray[i-minVal]; + + return x; + } + /** + * Return log Probability for original index i + * @param idx Index to probe + * @return log10(Pr X = i) ) + */ + public double getLogProbabilityForIndex(int idx) { + if (idx < minVal || idx > maxVal) + return Double.NEGATIVE_INFINITY; + else + return probabilityArray[idx-minVal]; + } + + //public ProbabilityVector + public static ProbabilityVector compressVector(double[] vec ) { + return new ProbabilityVector(vec, true); + } + + /** + * Determine left-most index where a vector exceeds (max Value - DELTA) + * @param vec Input vector + * @param maxValIdx Index to stop - usually index with max value in vector + * @return Min index where vector > vec[maxValIdx]-LOG_DYNAMIC_RANGE + */ + private static int getMinIdx(double[] vec, int maxValIdx) { + int edgeIdx; + for (edgeIdx=0; edgeIdx<=maxValIdx; edgeIdx++ ) { + if (vec[edgeIdx] > vec[maxValIdx]-LOG_DYNAMIC_RANGE) + break; + } + + return edgeIdx; + + + } + + /** + * Determine right-most index where a vector exceeds (max Value - DELTA) + * @param vec Input vector + * @param maxValIdx Index to stop - usually index with max value in vector + * @return Max index where vector > vec[maxValIdx]-LOG_DYNAMIC_RANGE + */ + private static int getMaxIdx(double[] vec, int maxValIdx) { + int edgeIdx; + for (edgeIdx=vec.length-1; edgeIdx>=maxValIdx; edgeIdx-- ) { + if (vec[edgeIdx] > vec[maxValIdx]-LOG_DYNAMIC_RANGE) + break; + } + + return edgeIdx; + + + } + + /** + * + * @param other + * @return + */ + public double logDotProduct(ProbabilityVector other) { + // find overlap in range + int minRange = Math.max(this.minVal, other.getMinVal()); + int maxRange = Math.min(this.maxVal, other.getMaxVal()); + if (minRange > maxRange) + return Double.NEGATIVE_INFINITY; + + // x = 0,1,2, y = 2,3,4. minRange = 2, maxRange = 2 + double[] result = new double[maxRange - minRange+1]; + for (int k=0; k <= maxRange-minRange; k++) { + int startI = minRange - this.minVal; + int startJ = minRange - other.getMinVal(); + result[k] = this.probabilityArray[k+startI] + other.probabilityArray[k+startJ]; + + + + } + return MathUtils.approximateLog10SumLog10(result); + } + +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnEdge.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnEdge.java new file mode 100755 index 000000000..0890ac20c --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnEdge.java @@ -0,0 +1,60 @@ +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import org.jgrapht.graph.DefaultDirectedGraph; + +/** + * Created by IntelliJ IDEA. + * User: ebanks + * Date: Mar 23, 2011 + */ + +// simple edge class for connecting nodes in the graph +public class DeBruijnEdge implements Comparable { + + private int multiplicity; + private boolean isRef; + + public DeBruijnEdge() { + multiplicity = 1; + isRef = false; + } + + public DeBruijnEdge( final boolean isRef ) { + multiplicity = 1; + this.isRef = isRef; + } + + public DeBruijnEdge( final boolean isRef, final int multiplicity ) { + this.multiplicity = multiplicity; + this.isRef = isRef; + } + + public int getMultiplicity() { + return multiplicity; + } + + public void setMultiplicity( final int value ) { + multiplicity = value; + } + + public boolean getIsRef() { + return isRef; + } + + public void setIsRef( final boolean isRef ) { + this.isRef = isRef; + } + + public boolean equals( final DefaultDirectedGraph graph, final DeBruijnEdge edge ) { + return (graph.getEdgeSource(this).equals(graph.getEdgeSource(edge))) && (graph.getEdgeTarget(this).equals(graph.getEdgeTarget(edge))); + } + + public boolean equals( final DefaultDirectedGraph graph, final DeBruijnEdge edge, final DefaultDirectedGraph graph2 ) { + return (graph.getEdgeSource(this).equals(graph2.getEdgeSource(edge))) && (graph.getEdgeTarget(this).equals(graph2.getEdgeTarget(edge))); + } + + @Override + public int compareTo( final DeBruijnEdge that ) { + return this.multiplicity - that.multiplicity; + } +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnVertex.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnVertex.java new file mode 100755 index 000000000..39833613d --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnVertex.java @@ -0,0 +1,46 @@ +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import java.util.Arrays; + +/** + * Created by IntelliJ IDEA. + * User: ebanks + * Date: Mar 23, 2011 + */ +// simple node class for storing kmer sequences +public class DeBruijnVertex { + + protected final byte[] sequence; + public final int kmer; + + public DeBruijnVertex( final byte[] sequence, final int kmer ) { + this.sequence = sequence; + this.kmer = kmer; + } + + @Override + public boolean equals( Object v ) { + return v instanceof DeBruijnVertex && Arrays.equals(sequence, ((DeBruijnVertex) v).sequence); + } + + @Override + public int hashCode() { // necessary to override here so that graph.containsVertex() works the same way as vertex.equals() as one might expect + return Arrays.hashCode(sequence); + } + + public String toString() { + return new String(sequence); + } + + public String getSuffixString() { + return new String( getSuffix() ); + } + + public byte[] getSequence() { + return sequence; + } + + public byte[] getSuffix() { + return Arrays.copyOfRange( sequence, kmer - 1, sequence.length ); + } +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngine.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngine.java new file mode 100644 index 000000000..e2445e926 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngine.java @@ -0,0 +1,623 @@ +/* + * Copyright (c) 2011 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import net.sf.samtools.Cigar; +import net.sf.samtools.CigarElement; +import org.apache.commons.lang.ArrayUtils; +import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyperEngine; +import org.broadinstitute.sting.gatk.walkers.genotyper.VariantCallContext; +import org.broadinstitute.sting.utils.*; +import org.broadinstitute.sting.utils.codecs.vcf.VCFAlleleClipper; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.variantcontext.*; + +import java.util.*; + +public class GenotypingEngine { + + private final boolean DEBUG; + private final int MNP_LOOK_AHEAD; + private final boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE; + private final static List noCall = new ArrayList(); // used to noCall all genotypes until the exact model is applied + private final static Allele SYMBOLIC_UNASSEMBLED_EVENT_ALLELE = Allele.create("", false); + + public GenotypingEngine( final boolean DEBUG, final int MNP_LOOK_AHEAD, final boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE ) { + this.DEBUG = DEBUG; + this.MNP_LOOK_AHEAD = MNP_LOOK_AHEAD; + this.OUTPUT_FULL_HAPLOTYPE_SEQUENCE = OUTPUT_FULL_HAPLOTYPE_SEQUENCE; + noCall.add(Allele.NO_CALL); + } + + // This function is the streamlined approach, currently not being used + @Requires({"refLoc.containsP(activeRegionWindow)", "haplotypes.size() > 0"}) + public List>>> assignGenotypeLikelihoodsAndCallHaplotypeEvents( final UnifiedGenotyperEngine UG_engine, final ArrayList haplotypes, final byte[] ref, final GenomeLoc refLoc, + final GenomeLoc activeRegionWindow, final GenomeLocParser genomeLocParser ) { + // Prepare the list of haplotype indices to genotype + final ArrayList allelesToGenotype = new ArrayList(); + + for( final Haplotype h : haplotypes ) { + allelesToGenotype.add( Allele.create(h.getBases(), h.isReference()) ); + } + final int numHaplotypes = haplotypes.size(); + + // Grab the genotype likelihoods from the appropriate places in the haplotype likelihood matrix -- calculation performed independently per sample + final GenotypesContext genotypes = GenotypesContext.create(haplotypes.get(0).getSampleKeySet().size()); + for( final String sample : haplotypes.get(0).getSampleKeySet() ) { // BUGBUG: assume all haplotypes saw the same samples + final double[] genotypeLikelihoods = new double[numHaplotypes * (numHaplotypes+1) / 2]; + final double[][] haplotypeLikelihoodMatrix = LikelihoodCalculationEngine.computeDiploidHaplotypeLikelihoods(haplotypes, sample); + int glIndex = 0; + for( int iii = 0; iii < numHaplotypes; iii++ ) { + for( int jjj = 0; jjj <= iii; jjj++ ) { + genotypeLikelihoods[glIndex++] = haplotypeLikelihoodMatrix[iii][jjj]; // for example: AA,AB,BB,AC,BC,CC + } + } + genotypes.add(new GenotypeBuilder(sample, noCall).PL(genotypeLikelihoods).make()); + } + final VariantCallContext call = UG_engine.calculateGenotypes(new VariantContextBuilder().loc(activeRegionWindow).alleles(allelesToGenotype).genotypes(genotypes).make(), UG_engine.getUAC().GLmodel); + if( call == null ) { return Collections.emptyList(); } // exact model says that the call confidence is below the specified confidence threshold so nothing to do here + + // Prepare the list of haplotypes that need to be run through Smith-Waterman for output to VCF + final ArrayList haplotypesToRemove = new ArrayList(); + for( final Haplotype h : haplotypes ) { + if( call.getAllele(h.getBases()) == null ) { // exact model removed this allele from the list so no need to run SW and output to VCF + haplotypesToRemove.add(h); + } + } + haplotypes.removeAll(haplotypesToRemove); + + if( OUTPUT_FULL_HAPLOTYPE_SEQUENCE ) { + final List>>> returnVCs = new ArrayList>>>(); + // set up the default 1-to-1 haplotype mapping object + final HashMap> haplotypeMapping = new HashMap>(); + for( final Haplotype h : haplotypes ) { + final ArrayList list = new ArrayList(); + list.add(h); + haplotypeMapping.put(call.getAllele(h.getBases()), list); + } + returnVCs.add( new Pair>>(call,haplotypeMapping) ); + return returnVCs; + } + + final ArrayList>>> returnCalls = new ArrayList>>>(); + + // Using the cigar from each called haplotype figure out what events need to be written out in a VCF file + final TreeSet startPosKeySet = new TreeSet(); + int count = 0; + if( DEBUG ) { System.out.println("=== Best Haplotypes ==="); } + for( final Haplotype h : haplotypes ) { + if( DEBUG ) { + System.out.println( h.toString() ); + System.out.println( "> Cigar = " + h.getCigar() ); + } + // Walk along the alignment and turn any difference from the reference into an event + h.setEventMap( generateVCsFromAlignment( h.getAlignmentStartHapwrtRef(), h.getCigar(), ref, h.getBases(), refLoc, "HC" + count++, MNP_LOOK_AHEAD ) ); + startPosKeySet.addAll(h.getEventMap().keySet()); + } + + // Create the VC merge priority list + final ArrayList priorityList = new ArrayList(); + for( int iii = 0; iii < haplotypes.size(); iii++ ) { + priorityList.add("HC" + iii); + } + + // Walk along each position in the key set and create each event to be outputted + for( final int loc : startPosKeySet ) { + if( loc >= activeRegionWindow.getStart() && loc <= activeRegionWindow.getStop() ) { + final ArrayList eventsAtThisLoc = new ArrayList(); + for( final Haplotype h : haplotypes ) { + final HashMap eventMap = h.getEventMap(); + final VariantContext vc = eventMap.get(loc); + if( vc != null && !containsVCWithMatchingAlleles(eventsAtThisLoc, vc) ) { + eventsAtThisLoc.add(vc); + } + } + + // Create the allele mapping object which maps the original haplotype alleles to the alleles present in just this event + final ArrayList> alleleMapper = createAlleleMapper( loc, eventsAtThisLoc, haplotypes ); + + // Merge the event to find a common reference representation + final VariantContext mergedVC = VariantContextUtils.simpleMerge(genomeLocParser, eventsAtThisLoc, priorityList, VariantContextUtils.FilteredRecordMergeType.KEEP_IF_ANY_UNFILTERED, VariantContextUtils.GenotypeMergeType.PRIORITIZE, false, false, null, false, false); + + final HashMap> alleleHashMap = new HashMap>(); + int aCount = 0; + for( final Allele a : mergedVC.getAlleles() ) { + alleleHashMap.put(a, alleleMapper.get(aCount++)); // BUGBUG: needs to be cleaned up and merged with alleleMapper + } + + if( DEBUG ) { + System.out.println("Genotyping event at " + loc + " with alleles = " + mergedVC.getAlleles()); + //System.out.println("Event/haplotype allele mapping = " + alleleMapper); + } + + // Grab the genotype likelihoods from the appropriate places in the haplotype likelihood matrix -- calculation performed independently per sample + final GenotypesContext myGenotypes = GenotypesContext.create(haplotypes.get(0).getSampleKeySet().size()); + for( final String sample : haplotypes.get(0).getSampleKeySet() ) { // BUGBUG: assume all haplotypes saw the same samples + final int myNumHaplotypes = alleleMapper.size(); + final double[] genotypeLikelihoods = new double[myNumHaplotypes * (myNumHaplotypes+1) / 2]; + final double[][] haplotypeLikelihoodMatrix = LikelihoodCalculationEngine.computeDiploidHaplotypeLikelihoods(sample, alleleMapper); + int glIndex = 0; + for( int iii = 0; iii < myNumHaplotypes; iii++ ) { + for( int jjj = 0; jjj <= iii; jjj++ ) { + genotypeLikelihoods[glIndex++] = haplotypeLikelihoodMatrix[iii][jjj]; // for example: AA,AB,BB,AC,BC,CC + } + } + + // using the allele mapping object translate the haplotype allele into the event allele + final Genotype g = new GenotypeBuilder(sample) + .alleles(findEventAllelesInSample(mergedVC.getAlleles(), call.getAlleles(), call.getGenotype(sample).getAlleles(), alleleMapper, haplotypes)) + .phased(loc != startPosKeySet.first()) + .PL(genotypeLikelihoods).make(); + myGenotypes.add(g); + } + returnCalls.add( new Pair>>( + new VariantContextBuilder(mergedVC).log10PError(call.getLog10PError()).genotypes(myGenotypes).make(), alleleHashMap) ); + } + } + return returnCalls; + } + + @Requires({"refLoc.containsP(activeRegionWindow)", "haplotypes.size() > 0"}) + public List>>> assignGenotypeLikelihoodsAndCallIndependentEvents( final UnifiedGenotyperEngine UG_engine, final ArrayList haplotypes, final byte[] ref, final GenomeLoc refLoc, + final GenomeLoc activeRegionWindow, final GenomeLocParser genomeLocParser, final ArrayList activeAllelesToGenotype ) { + + final ArrayList>>> returnCalls = new ArrayList>>>(); + + // Using the cigar from each called haplotype figure out what events need to be written out in a VCF file + final TreeSet startPosKeySet = new TreeSet(); + int count = 0; + if( DEBUG ) { System.out.println("=== Best Haplotypes ==="); } + for( final Haplotype h : haplotypes ) { + // Walk along the alignment and turn any difference from the reference into an event + h.setEventMap( generateVCsFromAlignment( h, h.getAlignmentStartHapwrtRef(), h.getCigar(), ref, h.getBases(), refLoc, "HC" + count++, MNP_LOOK_AHEAD ) ); + if( activeAllelesToGenotype.isEmpty() ) { startPosKeySet.addAll(h.getEventMap().keySet()); } + if( DEBUG ) { + System.out.println( h.toString() ); + System.out.println( "> Cigar = " + h.getCigar() ); + System.out.println( "> Left and right breaks = (" + h.leftBreakPoint + " , " + h.rightBreakPoint + ")"); + System.out.println( ">> Events = " + h.getEventMap()); + } + } + // Create the VC merge priority list + final ArrayList priorityList = new ArrayList(); + for( int iii = 0; iii < haplotypes.size(); iii++ ) { + priorityList.add("HC" + iii); + } + + cleanUpSymbolicUnassembledEvents( haplotypes, priorityList ); + if( activeAllelesToGenotype.isEmpty() && haplotypes.get(0).getSampleKeySet().size() >= 3 ) { // if not in GGA mode and have at least 3 samples try to create MNP and complex events by looking at LD structure + mergeConsecutiveEventsBasedOnLD( haplotypes, startPosKeySet, ref, refLoc ); + } + if( !activeAllelesToGenotype.isEmpty() ) { // we are in GGA mode! + for( final VariantContext compVC : activeAllelesToGenotype ) { + startPosKeySet.add( compVC.getStart() ); + } + } + + + // Walk along each position in the key set and create each event to be outputted + for( final int loc : startPosKeySet ) { + if( loc >= activeRegionWindow.getStart() && loc <= activeRegionWindow.getStop() ) { + final ArrayList eventsAtThisLoc = new ArrayList(); + if( activeAllelesToGenotype.isEmpty() ) { + for( final Haplotype h : haplotypes ) { + final HashMap eventMap = h.getEventMap(); + final VariantContext vc = eventMap.get(loc); + if( vc != null && !containsVCWithMatchingAlleles(eventsAtThisLoc, vc) ) { + eventsAtThisLoc.add(vc); + } + } + } else { // we are in GGA mode! + for( final VariantContext compVC : activeAllelesToGenotype ) { + if( compVC.getStart() == loc ) { + priorityList.clear(); + int alleleCount = 0; + for( final Allele compAltAllele : compVC.getAlternateAlleles() ) { + HashSet alleleSet = new HashSet(2); + alleleSet.add(compVC.getReference()); + alleleSet.add(compAltAllele); + priorityList.add("Allele" + alleleCount); + eventsAtThisLoc.add(new VariantContextBuilder(compVC).alleles(alleleSet).source("Allele"+alleleCount).make()); + alleleCount++; + } + } + } + } + + if( eventsAtThisLoc.isEmpty() ) { continue; } + + // Create the allele mapping object which maps the original haplotype alleles to the alleles present in just this event + final ArrayList> alleleMapper = createAlleleMapper( loc, eventsAtThisLoc, haplotypes ); + + // Merge the event to find a common reference representation + final VariantContext mergedVC = VariantContextUtils.simpleMerge(genomeLocParser, eventsAtThisLoc, priorityList, VariantContextUtils.FilteredRecordMergeType.KEEP_IF_ANY_UNFILTERED, VariantContextUtils.GenotypeMergeType.PRIORITIZE, false, false, null, false, false); + if( mergedVC == null ) { continue; } + + final HashMap> alleleHashMap = new HashMap>(); + int aCount = 0; + for( final Allele a : mergedVC.getAlleles() ) { + alleleHashMap.put(a, alleleMapper.get(aCount++)); // BUGBUG: needs to be cleaned up and merged with alleleMapper + } + + if( DEBUG ) { + System.out.println("Genotyping event at " + loc + " with alleles = " + mergedVC.getAlleles()); + //System.out.println("Event/haplotype allele mapping = " + alleleMapper); + } + + // Grab the genotype likelihoods from the appropriate places in the haplotype likelihood matrix -- calculation performed independently per sample + final GenotypesContext genotypes = GenotypesContext.create(haplotypes.get(0).getSampleKeySet().size()); + for( final String sample : haplotypes.get(0).getSampleKeySet() ) { // BUGBUG: assume all haplotypes saw the same samples + final int numHaplotypes = alleleMapper.size(); + final double[] genotypeLikelihoods = new double[numHaplotypes * (numHaplotypes+1) / 2]; + final double[][] haplotypeLikelihoodMatrix = LikelihoodCalculationEngine.computeDiploidHaplotypeLikelihoods(sample, alleleMapper); + int glIndex = 0; + for( int iii = 0; iii < numHaplotypes; iii++ ) { + for( int jjj = 0; jjj <= iii; jjj++ ) { + genotypeLikelihoods[glIndex++] = haplotypeLikelihoodMatrix[iii][jjj]; // for example: AA,AB,BB,AC,BC,CC + } + } + genotypes.add( new GenotypeBuilder(sample).alleles(noCall).PL(genotypeLikelihoods).make() ); + } + final VariantCallContext call = UG_engine.calculateGenotypes(new VariantContextBuilder(mergedVC).genotypes(genotypes).make(), UG_engine.getUAC().GLmodel); + + if( call != null ) { + returnCalls.add( new Pair>>(call, alleleHashMap) ); + } + } + } + return returnCalls; + } + + protected static void cleanUpSymbolicUnassembledEvents( final ArrayList haplotypes, final ArrayList priorityList ) { + final ArrayList haplotypesToRemove = new ArrayList(); + final ArrayList stringsToRemove = new ArrayList(); + for( final Haplotype h : haplotypes ) { + for( final VariantContext vc : h.getEventMap().values() ) { + if( vc.isSymbolic() ) { + for( final Haplotype h2 : haplotypes ) { + for( final VariantContext vc2 : h2.getEventMap().values() ) { + if( vc.getStart() == vc2.getStart() && vc2.isIndel() ) { + haplotypesToRemove.add(h); + stringsToRemove.add(vc.getSource()); + break; + } + } + } + } + } + } + haplotypes.removeAll(haplotypesToRemove); + priorityList.removeAll(stringsToRemove); + } + + protected void mergeConsecutiveEventsBasedOnLD( final ArrayList haplotypes, final TreeSet startPosKeySet, final byte[] ref, final GenomeLoc refLoc ) { + final int MAX_SIZE_TO_COMBINE = 10; + final double MERGE_EVENTS_R2_THRESHOLD = 0.95; + if( startPosKeySet.size() <= 1 ) { return; } + + boolean mapWasUpdated = true; + while( mapWasUpdated ) { + mapWasUpdated = false; + + // loop over the set of start locations and consider pairs that start near each other + final Iterator iter = startPosKeySet.iterator(); + int thisStart = iter.next(); + while( iter.hasNext() ) { + final int nextStart = iter.next(); + if( nextStart - thisStart < MAX_SIZE_TO_COMBINE) { + boolean isBiallelic = true; + VariantContext thisVC = null; + VariantContext nextVC = null; + int x11 = 0; + int x12 = 0; + int x21 = 0; + int x22 = 0; + + for( final Haplotype h : haplotypes ) { + // only make complex substitutions out of consecutive biallelic sites + final VariantContext thisHapVC = h.getEventMap().get(thisStart); + if( thisHapVC != null && !thisHapVC.isSymbolic() ) { // something was found at this location on this haplotype + if( thisVC == null ) { + thisVC = thisHapVC; + } else if( !thisHapVC.hasSameAllelesAs( thisVC ) ) { + isBiallelic = false; + break; + } + } + final VariantContext nextHapVC = h.getEventMap().get(nextStart); + if( nextHapVC != null && !nextHapVC.isSymbolic() ) { // something was found at the next location on this haplotype + if( nextVC == null ) { + nextVC = nextHapVC; + } else if( !nextHapVC.hasSameAllelesAs( nextVC ) ) { + isBiallelic = false; + break; + } + } + // count up the co-occurrences of the events for the R^2 calculation + // BUGBUG: use haplotype likelihoods per-sample to make this more accurate + if( thisHapVC == null ) { + if( nextHapVC == null ) { x11++; } + else { x12++; } + } else { + if( nextHapVC == null ) { x21++; } + else { x22++; } + } + } + if( thisVC == null || nextVC == null ) { + continue; + //throw new ReviewedStingException("StartPos TreeSet has an entry for an event that is found on no haplotype. start pos = " + thisStart + ", next pos = " + nextStart); + } + if( isBiallelic ) { + final double R2 = calculateR2LD( x11, x12, x21, x22 ); + if( DEBUG ) { + System.out.println("Found consecutive biallelic events with R^2 = " + String.format("%.4f", R2)); + System.out.println("-- " + thisVC); + System.out.println("-- " + nextVC); + } + if( R2 > MERGE_EVENTS_R2_THRESHOLD ) { + + final VariantContext mergedVC = createMergedVariantContext(thisVC, nextVC, ref, refLoc); + + // remove the old event from the eventMap on every haplotype and the start pos key set, replace with merged event + for( final Haplotype h : haplotypes ) { + final HashMap eventMap = h.getEventMap(); + if( eventMap.containsKey(thisStart) && eventMap.containsKey(nextStart) ) { + eventMap.remove(thisStart); + eventMap.remove(nextStart); + eventMap.put(mergedVC.getStart(), mergedVC); + } + } + startPosKeySet.add(mergedVC.getStart()); + boolean containsStart = false; + boolean containsNext = false; + for( final Haplotype h : haplotypes ) { + final HashMap eventMap = h.getEventMap(); + if( eventMap.containsKey(thisStart) ) { containsStart = true; } + if( eventMap.containsKey(nextStart) ) { containsNext = true; } + } + if(!containsStart) { startPosKeySet.remove(thisStart); } + if(!containsNext) { startPosKeySet.remove(nextStart); } + + if( DEBUG ) { System.out.println("====> " + mergedVC); } + mapWasUpdated = true; + break; // break out of tree set iteration since it was just updated, start over from the beginning and keep merging events + } + } + } + thisStart = nextStart; + } + } + } + + // BUGBUG: make this merge function more general + protected static VariantContext createMergedVariantContext( final VariantContext thisVC, final VariantContext nextVC, final byte[] ref, final GenomeLoc refLoc ) { + final int thisStart = thisVC.getStart(); + final int nextStart = nextVC.getStart(); + byte[] refBases = ( thisVC.hasReferenceBaseForIndel() ? new byte[]{ thisVC.getReferenceBaseForIndel() } : new byte[]{} ); + byte[] altBases = ( thisVC.hasReferenceBaseForIndel() ? new byte[]{ thisVC.getReferenceBaseForIndel() } : new byte[]{} ); + refBases = ArrayUtils.addAll(refBases, thisVC.getReference().getBases()); + altBases = ArrayUtils.addAll(altBases, thisVC.getAlternateAllele(0).getBases()); + for( int locus = thisStart + refBases.length; locus < nextStart; locus++ ) { + final byte refByte = ref[locus - refLoc.getStart()]; + refBases = ArrayUtils.add(refBases, refByte); + altBases = ArrayUtils.add(altBases, refByte); + } + if( nextVC.hasReferenceBaseForIndel() ) { + refBases = ArrayUtils.add(refBases, nextVC.getReferenceBaseForIndel()); + altBases = ArrayUtils.add(altBases, nextVC.getReferenceBaseForIndel()); + } + refBases = ArrayUtils.addAll(refBases, nextVC.getReference().getBases()); + altBases = ArrayUtils.addAll(altBases, nextVC.getAlternateAllele(0).getBases()); + + int iii = 0; + if( refBases.length == altBases.length && VCFAlleleClipper.needsPadding(thisVC) ) { // special case of insertion + deletion of same length creates an MNP --> trim padding bases off the allele + while( iii < refBases.length && refBases[iii] == altBases[iii] ) { iii++; } + } + final ArrayList mergedAlleles = new ArrayList(); + mergedAlleles.add( Allele.create( ArrayUtils.subarray(refBases, iii, refBases.length), true ) ); + mergedAlleles.add( Allele.create( ArrayUtils.subarray(altBases, iii, altBases.length), false ) ); + return new VariantContextBuilder("merged", thisVC.getChr(), thisVC.getStart() + iii, nextVC.getEnd(), mergedAlleles).make(); + } + + @Requires({"x11 >= 0", "x12 >= 0", "x21 >= 0", "x22 >= 0"}) + protected static double calculateR2LD( final int x11, final int x12, final int x21, final int x22 ) { + final int total = x11 + x12 + x21 + x22; + final double pa1b1 = ((double) x11) / ((double) total); + final double pa1b2 = ((double) x12) / ((double) total); + final double pa2b1 = ((double) x21) / ((double) total); + final double pa1 = pa1b1 + pa1b2; + final double pb1 = pa1b1 + pa2b1; + return ((pa1b1 - pa1*pb1) * (pa1b1 - pa1*pb1)) / ( pa1 * (1.0 - pa1) * pb1 * (1.0 - pb1) ); + } + + @Requires({"haplotypes.size() >= eventsAtThisLoc.size() + 1"}) + @Ensures({"result.size() == eventsAtThisLoc.size() + 1"}) + protected static ArrayList> createAlleleMapper( final int loc, final ArrayList eventsAtThisLoc, final ArrayList haplotypes ) { + final ArrayList> alleleMapper = new ArrayList>(); + final ArrayList refList = new ArrayList(); + for( final Haplotype h : haplotypes ) { + if( h.getEventMap().get(loc) == null ) { // no event at this location so this is a reference-supporting haplotype + refList.add(h); + } else { + boolean foundInEventList = false; + for( final VariantContext vcAtThisLoc : eventsAtThisLoc ) { + if( h.getEventMap().get(loc).hasSameAllelesAs(vcAtThisLoc) ) { + foundInEventList = true; + } + } + if( !foundInEventList ) { // event at this location isn't one of the genotype-able options (during GGA) so this is a reference-supporting haplotype + refList.add(h); + } + } + } + alleleMapper.add(refList); + for( final VariantContext vcAtThisLoc : eventsAtThisLoc ) { + final ArrayList list = new ArrayList(); + for( final Haplotype h : haplotypes ) { + if( h.getEventMap().get(loc) != null && h.getEventMap().get(loc).hasSameAllelesAs(vcAtThisLoc) ) { + list.add(h); + } + } + alleleMapper.add(list); + } + return alleleMapper; + } + + @Ensures({"result.size() == haplotypeAllelesForSample.size()"}) + protected static List findEventAllelesInSample( final List eventAlleles, final List haplotypeAlleles, final List haplotypeAllelesForSample, final ArrayList> alleleMapper, final ArrayList haplotypes ) { + if( haplotypeAllelesForSample.contains(Allele.NO_CALL) ) { return noCall; } + final ArrayList eventAllelesForSample = new ArrayList(); + for( final Allele a : haplotypeAllelesForSample ) { + final Haplotype haplotype = haplotypes.get(haplotypeAlleles.indexOf(a)); + for( int iii = 0; iii < alleleMapper.size(); iii++ ) { + final ArrayList mappedHaplotypes = alleleMapper.get(iii); + if( mappedHaplotypes.contains(haplotype) ) { + eventAllelesForSample.add(eventAlleles.get(iii)); + break; + } + } + } + return eventAllelesForSample; + } + + protected static boolean containsVCWithMatchingAlleles( final List list, final VariantContext vcToTest ) { + for( final VariantContext vc : list ) { + if( vc.hasSameAllelesAs(vcToTest) ) { + return true; + } + } + return false; + } + + protected static HashMap generateVCsFromAlignment( final int alignmentStartHapwrtRef, final Cigar cigar, final byte[] ref, final byte[] alignment, final GenomeLoc refLoc, final String sourceNameToAdd, final int MNP_LOOK_AHEAD ) { + return generateVCsFromAlignment(null, alignmentStartHapwrtRef, cigar, ref, alignment, refLoc, sourceNameToAdd, MNP_LOOK_AHEAD); // BUGBUG: needed for compatibility with HaplotypeResolver code + } + + protected static HashMap generateVCsFromAlignment( final Haplotype haplotype, final int alignmentStartHapwrtRef, final Cigar cigar, final byte[] ref, final byte[] alignment, final GenomeLoc refLoc, final String sourceNameToAdd, final int MNP_LOOK_AHEAD ) { + final HashMap vcs = new HashMap(); + + int refPos = alignmentStartHapwrtRef; + if( refPos < 0 ) { return null; } // Protection against SW failures + int alignmentPos = 0; + + for( final CigarElement ce : cigar.getCigarElements() ) { + final int elementLength = ce.getLength(); + switch( ce.getOperator() ) { + case I: + final byte[] insertionBases = Arrays.copyOfRange( alignment, alignmentPos, alignmentPos + elementLength ); + boolean allN = true; + for( final byte b : insertionBases ) { + if( b != (byte) 'N' ) { + allN = false; + break; + } + } + if( !allN ) { + final ArrayList insertionAlleles = new ArrayList(); + final int insertionStart = refLoc.getStart() + refPos - 1; + if( haplotype != null && (haplotype.leftBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() - 1 == insertionStart + elementLength + 1 || haplotype.rightBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() - 1 == insertionStart + elementLength + 1) ) { + insertionAlleles.add( Allele.create(ref[refPos-1], true) ); + insertionAlleles.add( SYMBOLIC_UNASSEMBLED_EVENT_ALLELE ); + vcs.put(insertionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), insertionStart, insertionStart, insertionAlleles).make()); + } else { + insertionAlleles.add( Allele.create(Allele.NULL_ALLELE_STRING, true) ); + insertionAlleles.add( Allele.create(insertionBases, false) ); + vcs.put(insertionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), insertionStart, insertionStart, insertionAlleles).referenceBaseForIndel(ref[refPos-1]).make()); + } + + } + alignmentPos += elementLength; + break; + case S: + alignmentPos += elementLength; + break; + case D: + final byte[] deletionBases = Arrays.copyOfRange( ref, refPos, refPos + elementLength ); + final ArrayList deletionAlleles = new ArrayList(); + final int deletionStart = refLoc.getStart() + refPos - 1; + // BUGBUG: how often does this symbolic deletion allele case happen? + //if( haplotype != null && ( (haplotype.leftBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() + elementLength - 1 >= deletionStart && haplotype.leftBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() + elementLength - 1 < deletionStart + elementLength) + // || (haplotype.rightBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() + elementLength - 1 >= deletionStart && haplotype.rightBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() + elementLength - 1 < deletionStart + elementLength) ) ) { + // deletionAlleles.add( Allele.create(ref[refPos-1], true) ); + // deletionAlleles.add( SYMBOLIC_UNASSEMBLED_EVENT_ALLELE ); + // vcs.put(deletionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), deletionStart, deletionStart, deletionAlleles).make()); + //} else { + deletionAlleles.add( Allele.create(deletionBases, true) ); + deletionAlleles.add( Allele.create(Allele.NULL_ALLELE_STRING, false) ); + vcs.put(deletionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), deletionStart, deletionStart + elementLength, deletionAlleles).referenceBaseForIndel(ref[refPos-1]).make()); + //} + refPos += elementLength; + break; + case M: + int numSinceMismatch = -1; + int stopOfMismatch = -1; + int startOfMismatch = -1; + int refPosStartOfMismatch = -1; + for( int iii = 0; iii < elementLength; iii++ ) { + if( ref[refPos] != alignment[alignmentPos] && alignment[alignmentPos] != ((byte) 'N') ) { + // SNP or start of possible MNP + if( stopOfMismatch == -1 ) { + startOfMismatch = alignmentPos; + stopOfMismatch = alignmentPos; + numSinceMismatch = 0; + refPosStartOfMismatch = refPos; + } else { + stopOfMismatch = alignmentPos; + } + } + if( stopOfMismatch != -1) { + numSinceMismatch++; + } + if( numSinceMismatch > MNP_LOOK_AHEAD || (iii == elementLength - 1 && stopOfMismatch != -1) ) { + final byte[] refBases = Arrays.copyOfRange( ref, refPosStartOfMismatch, refPosStartOfMismatch + (stopOfMismatch - startOfMismatch) + 1 ); + final byte[] mismatchBases = Arrays.copyOfRange( alignment, startOfMismatch, stopOfMismatch + 1 ); + final ArrayList snpAlleles = new ArrayList(); + snpAlleles.add( Allele.create( refBases, true ) ); + snpAlleles.add( Allele.create( mismatchBases, false ) ); + final int snpStart = refLoc.getStart() + refPosStartOfMismatch; + vcs.put(snpStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), snpStart, snpStart + (stopOfMismatch - startOfMismatch), snpAlleles).make()); + numSinceMismatch = -1; + stopOfMismatch = -1; + startOfMismatch = -1; + refPosStartOfMismatch = -1; + } + refPos++; + alignmentPos++; + } + break; + case N: + case H: + case P: + default: + throw new ReviewedStingException( "Unsupported cigar operator created during SW alignment: " + ce.getOperator() ); + } + } + return vcs; + } +} \ No newline at end of file diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCaller.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCaller.java new file mode 100755 index 000000000..343e6c96c --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCaller.java @@ -0,0 +1,566 @@ +/* + * Copyright (c) 2011 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import com.google.java.contract.Ensures; +import net.sf.picard.reference.IndexedFastaSequenceFile; +import org.broadinstitute.sting.commandline.*; +import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import org.broadinstitute.sting.gatk.arguments.DbsnpArgumentCollection; +import org.broadinstitute.sting.gatk.contexts.AlignmentContext; +import org.broadinstitute.sting.gatk.contexts.AlignmentContextUtils; +import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.filters.BadMateFilter; +import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; +import org.broadinstitute.sting.gatk.walkers.ActiveRegionExtension; +import org.broadinstitute.sting.gatk.walkers.ActiveRegionWalker; +import org.broadinstitute.sting.gatk.walkers.PartitionBy; +import org.broadinstitute.sting.gatk.walkers.PartitionType; +import org.broadinstitute.sting.gatk.walkers.annotator.VariantAnnotatorEngine; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; +import org.broadinstitute.sting.gatk.walkers.genotyper.GenotypeLikelihoodsCalculationModel; +import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedArgumentCollection; +import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyperEngine; +import org.broadinstitute.sting.gatk.walkers.genotyper.VariantCallContext; +import org.broadinstitute.sting.utils.*; +import org.broadinstitute.sting.utils.clipping.ReadClipper; +import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; +import org.broadinstitute.sting.utils.fragments.FragmentCollection; +import org.broadinstitute.sting.utils.fragments.FragmentUtils; +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.sam.ReadUtils; +import org.broadinstitute.sting.utils.variantcontext.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; + +import java.io.FileNotFoundException; +import java.io.PrintStream; +import java.util.*; + +/** + * Call SNPs and indels simultaneously via local de-novo assembly of haplotypes in an active region. Haplotypes are evaluated using an affine gap penalty Pair HMM. + * + *

Input

+ *

+ * Input bam file(s) from which to make calls + *

+ * + *

Output

+ *

+ * VCF file with raw, unrecalibrated SNP and indel calls. + *

+ * + *

Examples

+ *
+ *   java
+ *     -jar GenomeAnalysisTK.jar
+ *     -T HaplotypeCaller
+ *     -R reference/human_g1k_v37.fasta
+ *     -I sample1.bam [-I sample2.bam ...] \
+ *     --dbsnp dbSNP.vcf \
+ *     -stand_call_conf [50.0] \
+ *     -stand_emit_conf 10.0 \
+ *     [-L targets.interval_list]
+ *     -o output.raw.snps.indels.vcf
+ * 
+ * + *

Caveats

+ *
    + *
  • The system is under active and continuous development. All outputs, the underlying likelihood model, and command line arguments are likely to change often.
  • + *
+ * + * @author rpoplin + * @since 8/22/11 + */ + +@PartitionBy(PartitionType.LOCUS) +@ActiveRegionExtension(extension=65, maxRegion=275) +public class HaplotypeCaller extends ActiveRegionWalker implements AnnotatorCompatible { + + /** + * A raw, unfiltered, highly sensitive callset in VCF format. + */ + @Output(doc="File to which variants should be written", required = true) + protected VariantContextWriter vcfWriter = null; + + @Output(fullName="graphOutput", shortName="graph", doc="File to which debug assembly graph information should be written", required = false) + protected PrintStream graphWriter = null; + + @Hidden + @Argument(fullName="keepRG", shortName="keepRG", doc="Only use read from this read group when making calls (but use all reads to build the assembly)", required = false) + protected String keepRG = null; + + @Hidden + @Argument(fullName="mnpLookAhead", shortName="mnpLookAhead", doc = "The number of bases to combine together to form MNPs out of nearby consecutive SNPs on the same haplotype", required = false) + protected int MNP_LOOK_AHEAD = 0; + + @Argument(fullName="minPruning", shortName="minPruning", doc = "The minimum allowed pruning factor in assembly graph. Paths with <= X supporting kmers are pruned from the graph", required = false) + protected int MIN_PRUNE_FACTOR = 1; + + @Argument(fullName="genotypeFullActiveRegion", shortName="genotypeFullActiveRegion", doc = "If specified, alternate alleles are considered to be the full active region for the purposes of genotyping", required = false) + protected boolean GENOTYPE_FULL_ACTIVE_REGION = false; + + @Argument(fullName="fullHaplotype", shortName="fullHaplotype", doc = "If specified, output the full haplotype sequence instead of converting to individual variants w.r.t. the reference", required = false) + protected boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE = false; + + @Advanced + @Argument(fullName="gcpHMM", shortName="gcpHMM", doc="Gap continuation penalty for use in the Pair HMM", required = false) + protected int gcpHMM = 10; + + @Argument(fullName="downsampleRegion", shortName="dr", doc="coverage, per-sample, to downsample each active region to", required = false) + protected int DOWNSAMPLE_PER_SAMPLE_PER_REGION = 1000; + + @Argument(fullName="useExpandedTriggerSet", shortName="expandedTriggers", doc = "If specified, use additional, experimental triggers designed to capture larger indels but which may lead to an increase in the false positive rate", required=false) + protected boolean USE_EXPANDED_TRIGGER_SET = false; + + @Argument(fullName="useAllelesTrigger", shortName="allelesTrigger", doc = "If specified, use additional trigger on variants found in an external alleles file", required=false) + protected boolean USE_ALLELES_TRIGGER = false; + + /** + * rsIDs from this file are used to populate the ID column of the output. Also, the DB INFO flag will be set when appropriate. + * dbSNP is not used in any way for the calculations themselves. + */ + @ArgumentCollection + protected DbsnpArgumentCollection dbsnp = new DbsnpArgumentCollection(); + public RodBinding getDbsnpRodBinding() { return dbsnp.dbsnp; } + + /** + * If a call overlaps with a record from the provided comp track, the INFO field will be annotated + * as such in the output with the track name (e.g. -comp:FOO will have 'FOO' in the INFO field). + * Records that are filtered in the comp track will be ignored. + * Note that 'dbSNP' has been special-cased (see the --dbsnp argument). + */ + @Input(fullName="comp", shortName = "comp", doc="comparison VCF file", required=false) + public List> comps = Collections.emptyList(); + public List> getCompRodBindings() { return comps; } + + // The following are not used by the Unified Genotyper + public RodBinding getSnpEffRodBinding() { return null; } + public List> getResourceRodBindings() { return Collections.emptyList(); } + public boolean alwaysAppendDbsnpId() { return false; } + + /** + * Which annotations to add to the output VCF file. See the VariantAnnotator -list argument to view available annotations. + */ + @Argument(fullName="annotation", shortName="A", doc="One or more specific annotations to apply to variant calls", required=false) + protected List annotationsToUse = new ArrayList(Arrays.asList(new String[]{"ClippingRankSumTest"})); + + /** + * Which annotations to exclude from output in the VCF file. Note that this argument has higher priority than the -A or -G arguments, + * so annotations will be excluded even if they are explicitly included with the other options. + */ + @Argument(fullName="excludeAnnotation", shortName="XA", doc="One or more specific annotations to exclude", required=false) + protected List annotationsToExclude = new ArrayList(Arrays.asList(new String[]{"HaplotypeScore", "MappingQualityZero", "SpanningDeletions", "TandemRepeatAnnotator"})); + + /** + * Which groups of annotations to add to the output VCF file. See the VariantAnnotator -list argument to view available groups. + */ + @Argument(fullName="group", shortName="G", doc="One or more classes/groups of annotations to apply to variant calls", required=false) + protected String[] annotationClassesToUse = { "Standard" }; + + @ArgumentCollection + private UnifiedArgumentCollection UAC = new UnifiedArgumentCollection(); + + // the calculation arguments + private UnifiedGenotyperEngine UG_engine = null; + private UnifiedGenotyperEngine UG_engine_simple_genotyper = null; + + @Argument(fullName="debug", shortName="debug", doc="If specified, print out very verbose debug information about each triggering active region", required = false) + protected boolean DEBUG; + + // the assembly engine + LocalAssemblyEngine assemblyEngine = null; + + // the likelihoods engine + LikelihoodCalculationEngine likelihoodCalculationEngine = null; + + // the genotyping engine + GenotypingEngine genotypingEngine = null; + + // the annotation engine + private VariantAnnotatorEngine annotationEngine; + + // fasta reference reader to supplement the edges of the reference sequence + private IndexedFastaSequenceFile referenceReader; + + // reference base padding size + private static final int REFERENCE_PADDING = 900; + + // bases with quality less than or equal to this value are trimmed off the tails of the reads + private static final byte MIN_TAIL_QUALITY = 20; + + private ArrayList samplesList = new ArrayList(); + private final static double LOG_ONE_HALF = -Math.log10(2.0); + private final static double LOG_ONE_THIRD = -Math.log10(3.0); + private final ArrayList allelesToGenotype = new ArrayList(); + + private final static Allele FAKE_REF_ALLELE = Allele.create("N", true); // used in isActive function to call into UG Engine. Should never appear anywhere in a VCF file + private final static Allele FAKE_ALT_ALLELE = Allele.create("", false); // used in isActive function to call into UG Engine. Should never appear anywhere in a VCF file + + //--------------------------------------------------------------------------------------------------------------- + // + // initialize + // + //--------------------------------------------------------------------------------------------------------------- + + public void initialize() { + super.initialize(); + + // get all of the unique sample names + Set samples = SampleUtils.getSAMFileSamples(getToolkit().getSAMFileHeader()); + samplesList.addAll( samples ); + // initialize the UnifiedGenotyper Engine which is used to call into the exact model + UG_engine = new UnifiedGenotyperEngine(getToolkit(), UAC.clone(), logger, null, null, samples, VariantContextUtils.DEFAULT_PLOIDY); + UAC.OutputMode = UnifiedGenotyperEngine.OUTPUT_MODE.EMIT_VARIANTS_ONLY; // low values used for isActive determination only, default/user-specified values used for actual calling + UAC.GenotypingMode = GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.DISCOVERY; // low values used for isActive determination only, default/user-specified values used for actual calling + UAC.STANDARD_CONFIDENCE_FOR_CALLING = (USE_EXPANDED_TRIGGER_SET ? 0.3 : Math.max( 4.0, UAC.STANDARD_CONFIDENCE_FOR_CALLING) ); // low values used for isActive determination only, default/user-specified values used for actual calling + UAC.STANDARD_CONFIDENCE_FOR_EMITTING = (USE_EXPANDED_TRIGGER_SET ? 0.3 : Math.max( 4.0, UAC.STANDARD_CONFIDENCE_FOR_EMITTING) ); // low values used for isActive determination only, default/user-specified values used for actual calling + UG_engine_simple_genotyper = new UnifiedGenotyperEngine(getToolkit(), UAC, logger, null, null, samples, VariantContextUtils.DEFAULT_PLOIDY); + + // initialize the output VCF header + annotationEngine = new VariantAnnotatorEngine(Arrays.asList(annotationClassesToUse), annotationsToUse, annotationsToExclude, this, getToolkit()); + + Set headerInfo = new HashSet(); + + // all annotation fields from VariantAnnotatorEngine + headerInfo.addAll(annotationEngine.getVCFAnnotationDescriptions()); + // all callers need to add these standard annotation header lines + VCFStandardHeaderLines.addStandardInfoLines(headerInfo, true, + VCFConstants.DOWNSAMPLED_KEY, + VCFConstants.MLE_ALLELE_COUNT_KEY, + VCFConstants.MLE_ALLELE_FREQUENCY_KEY); + // all callers need to add these standard FORMAT field header lines + VCFStandardHeaderLines.addStandardFormatLines(headerInfo, true, + VCFConstants.GENOTYPE_KEY, + VCFConstants.GENOTYPE_QUALITY_KEY, + VCFConstants.DEPTH_KEY, + VCFConstants.GENOTYPE_PL_KEY); + // header lines for the experimental HaplotypeCaller-specific annotations + headerInfo.add(new VCFInfoHeaderLine("NVH", 1, VCFHeaderLineType.Integer, "Number of variants found on the haplotype that contained this variant")); + headerInfo.add(new VCFInfoHeaderLine("NumHapEval", 1, VCFHeaderLineType.Integer, "Number of haplotypes that were chosen for evaluation in this active region")); + headerInfo.add(new VCFInfoHeaderLine("NumHapAssembly", 1, VCFHeaderLineType.Integer, "Number of haplotypes created during the assembly of this active region")); + headerInfo.add(new VCFInfoHeaderLine("ActiveRegionSize", 1, VCFHeaderLineType.Integer, "Number of base pairs that comprise this active region")); + headerInfo.add(new VCFInfoHeaderLine("EVENTLENGTH", 1, VCFHeaderLineType.Integer, "Max length of all the alternate alleles")); + headerInfo.add(new VCFInfoHeaderLine("TYPE", 1, VCFHeaderLineType.String, "Type of event: SNP or INDEL")); + headerInfo.add(new VCFInfoHeaderLine("extType", 1, VCFHeaderLineType.String, "Extended type of event: SNP, MNP, INDEL, or COMPLEX")); + headerInfo.add(new VCFInfoHeaderLine("QDE", 1, VCFHeaderLineType.Float, "QD value divided by the number of variants found on the haplotype that contained this variant")); + + vcfWriter.writeHeader(new VCFHeader(headerInfo, samples)); + + try { + // fasta reference reader to supplement the edges of the reference sequence + referenceReader = new CachingIndexedFastaSequenceFile(getToolkit().getArguments().referenceFile); + } catch( FileNotFoundException e ) { + throw new UserException.CouldNotReadInputFile(getToolkit().getArguments().referenceFile, e); + } + + assemblyEngine = new SimpleDeBruijnAssembler( DEBUG, graphWriter ); + likelihoodCalculationEngine = new LikelihoodCalculationEngine( (byte)gcpHMM, DEBUG, false ); + genotypingEngine = new GenotypingEngine( DEBUG, MNP_LOOK_AHEAD, OUTPUT_FULL_HAPLOTYPE_SEQUENCE ); + } + + //--------------------------------------------------------------------------------------------------------------- + // + // isActive + // + //--------------------------------------------------------------------------------------------------------------- + + // enable deletions in the pileup + @Override + public boolean includeReadsWithDeletionAtLoci() { return true; } + + // enable non primary reads in the active region + @Override + public boolean wantsNonPrimaryReads() { return true; } + + @Override + @Ensures({"result >= 0.0", "result <= 1.0"}) + public double isActive( final RefMetaDataTracker tracker, final ReferenceContext ref, final AlignmentContext context ) { + + if( UG_engine.getUAC().GenotypingMode == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ) { + for( final VariantContext vc : tracker.getValues(UG_engine.getUAC().alleles, ref.getLocus()) ) { + if( !allelesToGenotype.contains(vc) ) { + allelesToGenotype.add(vc); // save for later for processing during the ActiveRegion's map call. Should be folded into a ReadMetaDataTracker object + } + } + if( tracker.getValues(UG_engine.getUAC().alleles, ref.getLocus()).size() > 0 ) { + return 1.0; + } + } + + if( USE_ALLELES_TRIGGER ) { + return ( tracker.getValues(UG_engine.getUAC().alleles, ref.getLocus()).size() > 0 ? 1.0 : 0.0 ); + } + + if( context == null ) { return 0.0; } + + final List noCall = new ArrayList(); // used to noCall all genotypes until the exact model is applied + noCall.add(Allele.NO_CALL); + + final Map splitContexts = AlignmentContextUtils.splitContextBySampleName(context); + final GenotypesContext genotypes = GenotypesContext.create(splitContexts.keySet().size()); + for( final String sample : splitContexts.keySet() ) { + final double[] genotypeLikelihoods = new double[3]; // ref versus non-ref (any event) + Arrays.fill(genotypeLikelihoods, 0.0); + + for( final PileupElement p : splitContexts.get(sample).getBasePileup() ) { + final byte qual = ( USE_EXPANDED_TRIGGER_SET ? + ( p.isNextToSoftClip() || p.isBeforeInsertion() || p.isAfterInsertion() ? ( p.getQual() > QualityUtils.MIN_USABLE_Q_SCORE ? p.getQual() : (byte) 20 ) : p.getQual() ) + : p.getQual() ); + if( p.isDeletion() || qual > (USE_EXPANDED_TRIGGER_SET ? QualityUtils.MIN_USABLE_Q_SCORE : (byte) 18) ) { + int AA = 0; final int AB = 1; int BB = 2; + if( USE_EXPANDED_TRIGGER_SET ) { + if( p.getBase() != ref.getBase() || p.isDeletion() || p.isBeforeDeletedBase() || p.isAfterDeletedBase() || p.isBeforeInsertion() || p.isAfterInsertion() || p.isNextToSoftClip() || + (!p.getRead().getNGSPlatform().equals(NGSPlatform.SOLID) && ((p.getRead().getReadPairedFlag() && p.getRead().getMateUnmappedFlag()) || BadMateFilter.hasBadMate(p.getRead()))) ) { + AA = 2; + BB = 0; + } + } else { + if( p.getBase() != ref.getBase() || p.isDeletion() || p.isBeforeDeletedBase() || p.isAfterDeletedBase() || p.isBeforeInsertion() || p.isAfterInsertion() || p.isNextToSoftClip() ) { + AA = 2; + BB = 0; + } + } + genotypeLikelihoods[AA] += QualityUtils.qualToProbLog10(qual); + genotypeLikelihoods[AB] += MathUtils.approximateLog10SumLog10( QualityUtils.qualToProbLog10(qual) + LOG_ONE_HALF, QualityUtils.qualToErrorProbLog10(qual) + LOG_ONE_THIRD + LOG_ONE_HALF ); + genotypeLikelihoods[BB] += QualityUtils.qualToErrorProbLog10(qual) + LOG_ONE_THIRD; + } + } + genotypes.add( new GenotypeBuilder(sample).alleles(noCall).PL(genotypeLikelihoods).make() ); + } + + final ArrayList alleles = new ArrayList(); + alleles.add( FAKE_REF_ALLELE ); + alleles.add( FAKE_ALT_ALLELE ); + final VariantCallContext vcOut = UG_engine_simple_genotyper.calculateGenotypes(new VariantContextBuilder("HCisActive!", context.getContig(), context.getLocation().getStart(), context.getLocation().getStop(), alleles).genotypes(genotypes).make(), GenotypeLikelihoodsCalculationModel.Model.INDEL); + return ( vcOut == null ? 0.0 : QualityUtils.qualToProb( vcOut.getPhredScaledQual() ) ); + } + + //--------------------------------------------------------------------------------------------------------------- + // + // map + // + //--------------------------------------------------------------------------------------------------------------- + + @Override + public Integer map( final org.broadinstitute.sting.utils.activeregion.ActiveRegion activeRegion, final RefMetaDataTracker metaDataTracker ) { + + final ArrayList activeAllelesToGenotype = new ArrayList(); + + if( UG_engine.getUAC().GenotypingMode == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ) { + for( final VariantContext vc : allelesToGenotype ) { + if( activeRegion.getLocation().overlapsP( getToolkit().getGenomeLocParser().createGenomeLoc(vc) ) ) { + activeAllelesToGenotype.add(vc); // do something with these VCs during GGA mode + } + } + allelesToGenotype.removeAll( activeAllelesToGenotype ); + } + + if( !activeRegion.isActive ) { return 0; } // Not active so nothing to do! + if( activeRegion.size() == 0 && UG_engine.getUAC().GenotypingMode != GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ) { return 0; } // No reads here so nothing to do! + if( UG_engine.getUAC().GenotypingMode == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES && activeAllelesToGenotype.isEmpty() ) { return 0; } // No alleles found in this region so nothing to do! + + finalizeActiveRegion( activeRegion ); // merge overlapping fragments, clip adapter and low qual tails + final Haplotype referenceHaplotype = new Haplotype(activeRegion.getActiveRegionReference(referenceReader)); // Create the reference haplotype which is the bases from the reference that make up the active region + referenceHaplotype.setIsReference(true); + final byte[] fullReferenceWithPadding = activeRegion.getFullReference(referenceReader, REFERENCE_PADDING); + //int PRUNE_FACTOR = Math.max(MIN_PRUNE_FACTOR, determinePruneFactorFromCoverage( activeRegion )); + final ArrayList haplotypes = assemblyEngine.runLocalAssembly( activeRegion, referenceHaplotype, fullReferenceWithPadding, getPaddedLoc(activeRegion), MIN_PRUNE_FACTOR, activeAllelesToGenotype ); + if( haplotypes.size() == 1 ) { return 1; } // only the reference haplotype remains so nothing else to do! + + activeRegion.hardClipToActiveRegion(); // only evaluate the parts of reads that are overlapping the active region + final List filteredReads = filterNonPassingReads( activeRegion ); // filter out reads from genotyping which fail mapping quality based criteria + if( activeRegion.size() == 0 ) { return 1; } // no reads remain after filtering so nothing else to do! + + // evaluate each sample's reads against all haplotypes + final HashMap> perSampleReadList = splitReadsBySample( activeRegion.getReads() ); + final HashMap> perSampleFilteredReadList = splitReadsBySample( filteredReads ); + likelihoodCalculationEngine.computeReadLikelihoods( haplotypes, perSampleReadList ); + + // subset down to only the best haplotypes to be genotyped in all samples ( in GGA mode use all discovered haplotypes ) + final ArrayList bestHaplotypes = ( UG_engine.getUAC().GenotypingMode != GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ? likelihoodCalculationEngine.selectBestHaplotypes( haplotypes ) : haplotypes ); + + for( final Pair>> callResult : + ( GENOTYPE_FULL_ACTIVE_REGION && UG_engine.getUAC().GenotypingMode != GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES + ? genotypingEngine.assignGenotypeLikelihoodsAndCallHaplotypeEvents( UG_engine, bestHaplotypes, fullReferenceWithPadding, getPaddedLoc(activeRegion), activeRegion.getLocation(), getToolkit().getGenomeLocParser() ) + : genotypingEngine.assignGenotypeLikelihoodsAndCallIndependentEvents( UG_engine, bestHaplotypes, fullReferenceWithPadding, getPaddedLoc(activeRegion), activeRegion.getLocation(), getToolkit().getGenomeLocParser(), activeAllelesToGenotype ) ) ) { + if( DEBUG ) { System.out.println(callResult.getFirst().toStringWithoutGenotypes()); } + + final Map>> stratifiedReadMap = LikelihoodCalculationEngine.partitionReadsBasedOnLikelihoods( getToolkit().getGenomeLocParser(), perSampleReadList, perSampleFilteredReadList, callResult ); + final VariantContext annotatedCall = annotationEngine.annotateContext(stratifiedReadMap, callResult.getFirst()); + + // add some custom annotations to the calls + final Map myAttributes = new LinkedHashMap(annotatedCall.getAttributes()); + // Calculate the number of variants on the haplotype + int maxNumVar = 0; + for( final Allele allele : callResult.getFirst().getAlleles() ) { + if( !allele.isReference() ) { + for( final Haplotype haplotype : callResult.getSecond().get(allele) ) { + final int numVar = haplotype.getEventMap().size(); + if( numVar > maxNumVar ) { maxNumVar = numVar; } + } + } + } + // Calculate the event length + int maxLength = 0; + for ( final Allele a : annotatedCall.getAlternateAlleles() ) { + final int length = a.length() - annotatedCall.getReference().length(); + if( Math.abs(length) > Math.abs(maxLength) ) { maxLength = length; } + } + + myAttributes.put("NVH", maxNumVar); + myAttributes.put("NumHapEval", bestHaplotypes.size()); + myAttributes.put("NumHapAssembly", haplotypes.size()); + myAttributes.put("ActiveRegionSize", activeRegion.getLocation().size()); + myAttributes.put("EVENTLENGTH", maxLength); + myAttributes.put("TYPE", (annotatedCall.isSNP() || annotatedCall.isMNP() ? "SNP" : "INDEL") ); + myAttributes.put("extType", annotatedCall.getType().toString() ); + + //if( likelihoodCalculationEngine.haplotypeScore != null ) { + // myAttributes.put("HaplotypeScore", String.format("%.4f", likelihoodCalculationEngine.haplotypeScore)); + //} + if( annotatedCall.hasAttribute("QD") ) { + myAttributes.put("QDE", String.format("%.2f", Double.parseDouble((String)annotatedCall.getAttribute("QD")) / ((double)maxNumVar)) ); + } + + vcfWriter.add( new VariantContextBuilder(annotatedCall).attributes(myAttributes).make() ); + } + + if( DEBUG ) { System.out.println("----------------------------------------------------------------------------------"); } + + return 1; // One active region was processed during this map call + } + + //--------------------------------------------------------------------------------------------------------------- + // + // reduce + // + //--------------------------------------------------------------------------------------------------------------- + + @Override + public Integer reduceInit() { + return 0; + } + + @Override + public Integer reduce(Integer cur, Integer sum) { + return cur + sum; + } + + @Override + public void onTraversalDone(Integer result) { + logger.info("Ran local assembly on " + result + " active regions"); + } + + //--------------------------------------------------------------------------------------------------------------- + // + // private helper functions + // + //--------------------------------------------------------------------------------------------------------------- + + private void finalizeActiveRegion( final org.broadinstitute.sting.utils.activeregion.ActiveRegion activeRegion ) { + if( DEBUG ) { System.out.println("\nAssembling " + activeRegion.getExtendedLoc() + " with " + activeRegion.size() + " reads:"); } + final ArrayList finalizedReadList = new ArrayList(); + final FragmentCollection fragmentCollection = FragmentUtils.create( ReadUtils.sortReadsByCoordinate(activeRegion.getReads()) ); + activeRegion.clearReads(); + + // Join overlapping paired reads to create a single longer read + finalizedReadList.addAll( fragmentCollection.getSingletonReads() ); + for( final List overlappingPair : fragmentCollection.getOverlappingPairs() ) { + finalizedReadList.addAll( FragmentUtils.mergeOverlappingPairedFragments(overlappingPair) ); + } + + Collections.shuffle(finalizedReadList, GenomeAnalysisEngine.getRandomGenerator()); + + // Loop through the reads hard clipping the adaptor and low quality tails + for( final GATKSAMRecord myRead : finalizedReadList ) { + final GATKSAMRecord postAdapterRead = ( myRead.getReadUnmappedFlag() ? myRead : ReadClipper.hardClipAdaptorSequence( myRead ) ); + if( postAdapterRead != null && !postAdapterRead.isEmpty() && postAdapterRead.getCigar().getReadLength() > 0 ) { + final GATKSAMRecord clippedRead = ReadClipper.hardClipLowQualEnds( postAdapterRead, MIN_TAIL_QUALITY ); + // protect against INTERVALS with abnormally high coverage + if( clippedRead.getReadLength() > 0 && activeRegion.size() < samplesList.size() * DOWNSAMPLE_PER_SAMPLE_PER_REGION ) { + activeRegion.add(clippedRead); + } + } + } + } + + private List filterNonPassingReads( final org.broadinstitute.sting.utils.activeregion.ActiveRegion activeRegion ) { + final ArrayList readsToRemove = new ArrayList(); + for( final GATKSAMRecord rec : activeRegion.getReads() ) { + if( rec.getReadLength() < 24 || rec.getMappingQuality() <= 20 || BadMateFilter.hasBadMate(rec) || (keepRG != null && !rec.getReadGroup().getId().equals(keepRG)) ) { + readsToRemove.add(rec); + } + } + activeRegion.removeAll( readsToRemove ); + return readsToRemove; + } + + private GenomeLoc getPaddedLoc( final org.broadinstitute.sting.utils.activeregion.ActiveRegion activeRegion ) { + final int padLeft = Math.max(activeRegion.getReferenceLoc().getStart()-REFERENCE_PADDING, 1); + final int padRight = Math.min(activeRegion.getReferenceLoc().getStop()+REFERENCE_PADDING, referenceReader.getSequenceDictionary().getSequence(activeRegion.getReferenceLoc().getContig()).getSequenceLength()); + return getToolkit().getGenomeLocParser().createGenomeLoc(activeRegion.getReferenceLoc().getContig(), padLeft, padRight); + } + + private HashMap> splitReadsBySample( final List reads ) { + final HashMap> returnMap = new HashMap>(); + for( final String sample : samplesList) { + ArrayList readList = returnMap.get( sample ); + if( readList == null ) { + readList = new ArrayList(); + returnMap.put(sample, readList); + } + } + for( final GATKSAMRecord read : reads ) { + returnMap.get(read.getReadGroup().getSample()).add(read); + } + + return returnMap; + } + + /* + private int determinePruneFactorFromCoverage( final ActiveRegion activeRegion ) { + final ArrayList readLengthDistribution = new ArrayList(); + for( final GATKSAMRecord read : activeRegion.getReads() ) { + readLengthDistribution.add(read.getReadLength()); + } + final double meanReadLength = MathUtils.average(readLengthDistribution); + final double meanCoveragePerSample = (double) activeRegion.getReads().size() / ((double) activeRegion.getExtendedLoc().size() / meanReadLength) / (double) samplesList.size(); + int PRUNE_FACTOR = 0; + if( meanCoveragePerSample > 8.5 ) { + PRUNE_FACTOR = (int) Math.floor( Math.sqrt( meanCoveragePerSample - 5.0 ) ); + } else if( meanCoveragePerSample > 3.0 ) { + PRUNE_FACTOR = 1; + } + + if( DEBUG ) { System.out.println(String.format("Mean coverage per sample = %.1f --> prune factor = %d", meanCoveragePerSample, PRUNE_FACTOR)); } + return PRUNE_FACTOR; + } + */ +} \ No newline at end of file diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeResolver.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeResolver.java new file mode 100755 index 000000000..8d1ffa0a0 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeResolver.java @@ -0,0 +1,441 @@ +/* + * Copyright (c) 2011 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import org.broadinstitute.sting.commandline.Argument; +import org.broadinstitute.sting.commandline.Input; +import org.broadinstitute.sting.commandline.Output; +import org.broadinstitute.sting.commandline.RodBinding; +import org.broadinstitute.sting.gatk.contexts.AlignmentContext; +import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; +import org.broadinstitute.sting.gatk.walkers.Reference; +import org.broadinstitute.sting.gatk.walkers.RodWalker; +import org.broadinstitute.sting.gatk.walkers.Window; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.SWPairwiseAlignment; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; +import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; +import org.broadinstitute.sting.utils.variantcontext.VariantContextBuilder; +import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriterFactory; + +import java.util.*; + +/** + * Haplotype-based resolution of variants in 2 different eval files. + * + *

+ * HaplotypeResolver is a tool that takes 2 VCF files and constructs haplotypes based on the variants inside them. + * From that, it can resolve potential differences in variant calls that are inherently the same (or similar) variants. + * Records are annotated with the set and status attributes. + * + *

Input

+ *

+ * 2 variant files to resolve. + *

+ * + *

Output

+ *

+ * A single consensus VCF. + *

+ * + *

Examples

+ *
+ * java -Xmx1g -jar GenomeAnalysisTK.jar \
+ *   -R ref.fasta \
+ *   -T HaplotypeResolver \
+ *   -V:v1 input1.vcf \
+ *   -V:v2 input2.vcf \
+ *   -o output.vcf
+ * 
+ * + */ +@Reference(window=@Window(start=-HaplotypeResolver.ACTIVE_WINDOW,stop= HaplotypeResolver.ACTIVE_WINDOW)) +public class HaplotypeResolver extends RodWalker { + + protected static final String INTERSECTION_SET = "intersection"; + protected static final String SAME_STATUS = "same"; + protected static final String SOME_ALLELES_MATCH_STATUS = "someAllelesMatch"; + protected static final String SAME_START_DIFFERENT_ALLELES_STATUS = "sameStartDifferentAlleles"; + protected static final String SAME_BY_HAPLOTYPE_STATUS = "sameByHaplotype"; + protected static final String ONE_ALLELE_SUBSET_OF_OTHER_STATUS = "OneAlleleSubsetOfOther"; + protected static final String OVERLAPPING_EVENTS_STATUS = "overlappingEvents"; + + protected final static int MAX_DISTANCE_BETWEEN_MERGED_RECORDS = 50; + protected final static int MAX_HAPLOTYPE_TO_CONSIDER = 1000; + protected final static int MAX_VARIANT_SIZE_TO_CONSIDER = 100; + protected final static int ACTIVE_WINDOW = MAX_HAPLOTYPE_TO_CONSIDER + MAX_VARIANT_SIZE_TO_CONSIDER; + + @Input(fullName="variant", shortName = "V", doc="Input VCF file", required=true) + public List> variants; + + @Output(doc="File to which variants should be written", required=true) + protected VariantContextWriter baseWriter = null; + private VariantContextWriter writer; + + /** + * Set to 'null' if you don't want the set field emitted. + */ + @Argument(fullName="setKey", shortName="setKey", doc="Key used in the INFO key=value tag emitted describing which set the combined VCF record came from", required=false) + protected String SET_KEY = "set"; + + /** + * Set to 'null' if you don't want the status field emitted. + */ + @Argument(fullName="statusKey", shortName="statusKey", doc="Key used in the INFO key=value tag emitted describing the extent to which records match", required=false) + protected String STATUS_KEY = "status"; + + private final LinkedList queue = new LinkedList(); + private String source1, source2; + private final List sourceVCs1 = new ArrayList(); + private final List sourceVCs2 = new ArrayList(); + + + private class VCcontext { + public final Collection vcs; + public final GenomeLoc loc; + public final ReferenceContext ref; + + public VCcontext(final Collection vcs, final ReferenceContext ref) { + this.vcs = vcs; + this.loc = getToolkit().getGenomeLocParser().createGenomeLoc(vcs.iterator().next()); + this.ref = ref; + } + } + + public void initialize() { + + if ( variants.size() != 2 ) { + throw new UserException.BadArgumentValue("variant", "this tool requires exactly 2 input variant files"); + } + source1 = variants.get(0).getName(); + source2 = variants.get(1).getName(); + + if ( SET_KEY.toLowerCase().equals("null") ) + SET_KEY = null; + if ( STATUS_KEY.toLowerCase().equals("null") ) + STATUS_KEY = null; + + // for now, INFO and FORMAT fields are not propagated to the output VCF (so they aren't put into the header) + Set headerLines = new HashSet(); + if ( SET_KEY != null ) + headerLines.add(new VCFInfoHeaderLine(SET_KEY, 1, VCFHeaderLineType.String, "Source VCF for the merged record")); + if ( STATUS_KEY != null ) + headerLines.add(new VCFInfoHeaderLine(STATUS_KEY, 1, VCFHeaderLineType.String, "Extent to which records match")); + final VCFHeader vcfHeader = new VCFHeader(headerLines, Collections.emptySet()); + baseWriter.writeHeader(vcfHeader); + writer = VariantContextWriterFactory.sortOnTheFly(baseWriter, ACTIVE_WINDOW); + } + + public Integer map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { + if ( tracker == null ) + return 0; + + final Collection VCs = tracker.getValues(variants, context.getLocation()); + if ( VCs.size() == 0 ) + return 0; + + final VCcontext vc = new VCcontext(VariantContextUtils.sitesOnlyVariantContexts(VCs), ref); + + // TODO -- what should we do about filtered records? + + if ( !queue.isEmpty() ) { + + final VCcontext previous = queue.getLast(); + if ( !previous.loc.onSameContig(vc.loc) || + previous.loc.distance(vc.loc) > MAX_DISTANCE_BETWEEN_MERGED_RECORDS || + queue.getFirst().loc.distance(vc.loc) > MAX_HAPLOTYPE_TO_CONSIDER ) { + purgeQueue(); + } + } + + queue.addLast(vc); + return 0; + } + + public Integer reduceInit() { return 0; } + + public Integer reduce(Integer value, Integer sum) { + return sum + value; + } + + public void onTraversalDone(Integer result) { + if ( !queue.isEmpty() ) + purgeQueue(); + writer.close(); + } + + private void purgeQueue() { + + final ReferenceContext refContext = queue.getFirst().ref; + + // divide them up by source + while ( !queue.isEmpty() ) { + VCcontext context = queue.removeFirst(); + for ( final VariantContext vc: context.vcs ) { + if ( vc.getSource().equals(source1) ) + sourceVCs1.add(vc); + else + sourceVCs2.add(vc); + } + } + + writeAndPurgeAllEqualVariants(sourceVCs1, sourceVCs2, SAME_STATUS); + + if ( sourceVCs1.isEmpty() ) { + writeAll(sourceVCs2, source2, null); + } else if ( sourceVCs2.isEmpty() ) { + writeAll(sourceVCs1, source1, null); + } else { + resolveByHaplotype(refContext); + } + + // allow for GC of the data + sourceVCs1.clear(); + sourceVCs2.clear(); + } + + private void writeAll(final List sourceVCs, final String set, final String status) { + for ( final VariantContext vc : sourceVCs ) { + writeOne(vc, set, status); + } + } + + private void writeOne(final VariantContext vc, final String set, final String status) { + final Map attrs = new HashMap(vc.getAttributes()); + if ( SET_KEY != null && set != null ) + attrs.put(SET_KEY, set); + if ( STATUS_KEY != null && status != null ) + attrs.put(STATUS_KEY, status); + writer.add(new VariantContextBuilder(vc).attributes(attrs).make()); + } + + private void writeAndPurgeAllEqualVariants(final List sourceVCs1, final List sourceVCs2, final String status) { + + int currentIndex1 = 0, currentIndex2 = 0; + int size1 = sourceVCs1.size(), size2 = sourceVCs2.size(); + VariantContext current1 = (currentIndex1 < size1 ? sourceVCs1.get(currentIndex1): null); + VariantContext current2 = (currentIndex2 < size2 ? sourceVCs2.get(currentIndex2): null); + + while ( current1 != null && current2 != null ) { + + final GenomeLoc loc1 = getToolkit().getGenomeLocParser().createGenomeLoc(current1); + final GenomeLoc loc2 = getToolkit().getGenomeLocParser().createGenomeLoc(current2); + + if ( loc1.equals(loc2) || + (loc1.getStart() == loc2.getStart() && (current1.getAlternateAlleles().size() > 1 || current2.getAlternateAlleles().size() > 1)) ) { + // test the alleles + if ( determineAndWriteOverlap(current1, current2, status) ) { + sourceVCs1.remove(currentIndex1); + sourceVCs2.remove(currentIndex2); + size1--; + size2--; + } else { + currentIndex1++; + currentIndex2++; + } + current1 = (currentIndex1 < size1 ? sourceVCs1.get(currentIndex1): null); + current2 = (currentIndex2 < size2 ? sourceVCs2.get(currentIndex2): null); + } else if ( loc1.isBefore(loc2) ) { + currentIndex1++; + current1 = (currentIndex1 < size1 ? sourceVCs1.get(currentIndex1): null); + } else { + currentIndex2++; + current2 = (currentIndex2 < size2 ? sourceVCs2.get(currentIndex2): null); + } + } + } + + private boolean determineAndWriteOverlap(final VariantContext vc1, final VariantContext vc2, final String status) { + final int allelesFrom1In2 = findOverlap(vc1, vc2); + final int allelesFrom2In1 = findOverlap(vc2, vc1); + final int totalAllelesIn1 = vc1.getAlternateAlleles().size(); + final int totalAllelesIn2 = vc2.getAlternateAlleles().size(); + + final boolean allAllelesFrom1Overlap = allelesFrom1In2 == totalAllelesIn1; + final boolean allAllelesFrom2Overlap = allelesFrom2In1 == totalAllelesIn2; + + boolean thereIsOverlap = true; + + if ( allAllelesFrom1Overlap && allAllelesFrom2Overlap ) { + writeOne(vc1, INTERSECTION_SET, status); + } else if ( allAllelesFrom1Overlap ) { + writeOne(vc2, INTERSECTION_SET, source1 + "IsSubsetOf" + source2); + } else if ( allAllelesFrom2Overlap ) { + writeOne(vc1, INTERSECTION_SET, source2 + "IsSubsetOf" + source1); + } else if ( allelesFrom1In2 > 0 ) { + writeOne(vc1, INTERSECTION_SET, SOME_ALLELES_MATCH_STATUS); + } else if ( totalAllelesIn1 > 1 || totalAllelesIn2 > 1 ) { // we don't handle multi-allelics in the haplotype-based reconstruction + writeOne(vc1, INTERSECTION_SET, SAME_START_DIFFERENT_ALLELES_STATUS); + } else { + thereIsOverlap = false; + } + + return thereIsOverlap; + } + + private static int findOverlap(final VariantContext target, final VariantContext comparison) { + int overlap = 0; + for ( final Allele allele : target.getAlternateAlleles() ) { + if ( comparison.hasAlternateAllele(allele) ) + overlap++; + } + return overlap; + } + + private static final double SW_MATCH = 4.0; + private static final double SW_MISMATCH = -10.0; + private static final double SW_GAP = -25.0; + private static final double SW_GAP_EXTEND = -1.3; + private void resolveByHaplotype(final ReferenceContext refContext) { + + final byte[] source1Haplotype = generateHaplotype(sourceVCs1, refContext); + final byte[] source2Haplotype = generateHaplotype(sourceVCs2, refContext); + + final SWPairwiseAlignment swConsensus1 = new SWPairwiseAlignment( refContext.getBases(), source1Haplotype, SW_MATCH, SW_MISMATCH, SW_GAP, SW_GAP_EXTEND ); + final SWPairwiseAlignment swConsensus2 = new SWPairwiseAlignment( refContext.getBases(), source2Haplotype, SW_MATCH, SW_MISMATCH, SW_GAP, SW_GAP_EXTEND ); + + // protect against SW failures + if( swConsensus1.getCigar().toString().contains("S") || swConsensus1.getCigar().getReferenceLength() < 20 || + swConsensus2.getCigar().toString().contains("S") || swConsensus2.getCigar().getReferenceLength() < 20 ) { + // TODO -- handle errors appropriately + logger.debug("Bad SW alignment; aborting at " + refContext.getLocus()); + return; + } + + // order results by start position + final TreeMap source1Map = new TreeMap(GenotypingEngine.generateVCsFromAlignment(0, swConsensus1.getCigar(), refContext.getBases(), source1Haplotype, refContext.getWindow(), source1, 0)); + final TreeMap source2Map = new TreeMap(GenotypingEngine.generateVCsFromAlignment(0, swConsensus2.getCigar(), refContext.getBases(), source2Haplotype, refContext.getWindow(), source2, 0)); + if ( source1Map.size() == 0 || source2Map.size() == 0 ) { + // TODO -- handle errors appropriately + logger.debug("No source alleles; aborting at " + refContext.getLocus()); + return; + } + + // create lists and test for equality + final List source1Alleles = new ArrayList(source1Map.values()); + final List source2Alleles = new ArrayList(source2Map.values()); + + writeAndPurgeAllEqualVariants(source1Alleles, source2Alleles, SAME_BY_HAPLOTYPE_STATUS); + if ( source1Alleles.isEmpty() ) { + writeAll(source2Alleles, source2, null); + } else if ( source2Alleles.isEmpty() ) { + writeAll(source1Alleles, source1, null); + } else { + writeDifferences(source1Alleles, source2Alleles); + } + } + + private byte[] generateHaplotype(final List sourceVCs, final ReferenceContext refContext) { + + final StringBuilder sb = new StringBuilder(); + + final int startPos = refContext.getWindow().getStart(); + int currentPos = startPos; + final byte[] reference = refContext.getBases(); + + for ( final VariantContext vc : sourceVCs ) { + // add any missing reference context + int vcStart = vc.getStart(); + final int refAlleleLength = vc.getReference().length(); + if ( refAlleleLength == vc.getEnd() - vc.getStart() ) // this is a deletion (whereas for other events the padding base isn't part of the position) + vcStart++; + + while ( currentPos < vcStart ) + sb.append((char)reference[currentPos++ - startPos]); + + // add the alt allele + sb.append(vc.getAlternateAllele(0).getBaseString()); + + // skip the reference allele + currentPos += refAlleleLength; + } + // add any missing reference context + final int stopPos = refContext.getWindow().getStop(); + while ( currentPos < stopPos ) + sb.append((char)reference[currentPos++ - startPos]); + + return sb.toString().getBytes(); + } + + private void writeDifferences(final List source1Alleles, final List source2Alleles) { + int currentIndex1 = 0, currentIndex2 = 0; + final int size1 = source1Alleles.size(), size2 = source2Alleles.size(); + VariantContext current1 = source1Alleles.get(0); + VariantContext current2 = source2Alleles.get(0); + + while ( currentIndex1 < size1 || currentIndex2 < size2 ) { + if ( current1 == null ) { + writeOne(current2, source2, null); + currentIndex2++; + current2 = (currentIndex2 < size2 ? source2Alleles.get(currentIndex2): null); + } else if ( current2 == null ) { + writeOne(current1, source1, null); + currentIndex1++; + current1 = (currentIndex1 < size1 ? source1Alleles.get(currentIndex1): null); + } else { + + final GenomeLoc loc1 = getToolkit().getGenomeLocParser().createGenomeLoc(current1); + final GenomeLoc loc2 = getToolkit().getGenomeLocParser().createGenomeLoc(current2); + + if ( loc1.getStart() == loc2.getStart() || loc1.overlapsP(loc2) ) { + String status; + if ( loc1.getStart() == loc2.getStart() ) { + final String allele1 = current1.getAlternateAllele(0).getBaseString(); + final String allele2 = current2.getAlternateAllele(0).getBaseString(); + if ( allele1.indexOf(allele2) != -1 || allele2.indexOf(allele1) != -1 ) + status = ONE_ALLELE_SUBSET_OF_OTHER_STATUS; + else + status = SAME_START_DIFFERENT_ALLELES_STATUS; + } else { + status = OVERLAPPING_EVENTS_STATUS; + } + + writeOne(current1, INTERSECTION_SET, status); + currentIndex1++; + currentIndex2++; + current1 = (currentIndex1 < size1 ? source1Alleles.get(currentIndex1): null); + current2 = (currentIndex2 < size2 ? source2Alleles.get(currentIndex2): null); + } else if ( loc1.isBefore(loc2) ) { + writeOne(current1, source1, null); + currentIndex1++; + current1 = (currentIndex1 < size1 ? source1Alleles.get(currentIndex1): null); + } else { + writeOne(current2, source2, null); + currentIndex2++; + current2 = (currentIndex2 < size2 ? source2Alleles.get(currentIndex2): null); + } + } + } + } +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPaths.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPaths.java new file mode 100755 index 000000000..45deb9b2a --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPaths.java @@ -0,0 +1,149 @@ +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import org.apache.commons.lang.ArrayUtils; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.jgrapht.graph.DefaultDirectedGraph; + +import java.util.*; + +/** + * Created by IntelliJ IDEA. + * User: ebanks + * Date: Mar 23, 2011 + */ +// Class for finding the K best paths (as determined by the sum of multiplicities of the edges) in a graph. +// This is different from most graph traversals because we want to test paths from any source node to any sink node. +public class KBestPaths { + + // static access only + protected KBestPaths() { } + private static int MAX_PATHS_TO_HOLD = 100; + + protected static class MyInt { public int val = 0; } + + // class to keep track of paths + protected static class Path { + + // the last vertex seen in the path + private DeBruijnVertex lastVertex; + + // the list of edges comprising the path + private ArrayList edges; + + // the scores for the path + private int totalScore = 0, lowestEdge = -1; + + public Path( final DeBruijnVertex initialVertex ) { + lastVertex = initialVertex; + edges = new ArrayList(0); + } + + public Path( final Path p, final DefaultDirectedGraph graph, final DeBruijnEdge edge ) { + lastVertex = graph.getEdgeTarget(edge); + edges = new ArrayList(p.edges); + edges.add(edge); + totalScore = p.totalScore + edge.getMultiplicity(); + lowestEdge = ( p.lowestEdge == -1 ) ? edge.getMultiplicity() : Math.min(p.lowestEdge, edge.getMultiplicity()); + } + + public boolean containsEdge( final DefaultDirectedGraph graph, final DeBruijnEdge edge ) { + final DeBruijnVertex targetVertex = graph.getEdgeTarget(edge); + for( final DeBruijnEdge e : edges ) { + if( e.equals(graph, edge) || graph.getEdgeTarget(e).equals(targetVertex) ) { + return true; + } + } + + return false; + } + + public ArrayList getEdges() { return edges; } + + public int getScore() { return totalScore; } + + public int getLowestEdge() { return lowestEdge; } + + public DeBruijnVertex getLastVertexInPath() { return lastVertex; } + + public byte[] getBases( final DefaultDirectedGraph graph ) { + if( edges.size() == 0 ) { return lastVertex.getSequence(); } + + byte[] bases = graph.getEdgeSource( edges.get(0) ).getSequence(); + for( final DeBruijnEdge e : edges ) { + bases = ArrayUtils.addAll(bases, graph.getEdgeTarget( e ).getSuffix()); + } + return bases; + } + } + + protected static class PathComparatorTotalScore implements Comparator { + public int compare(final Path path1, final Path path2) { + return path1.totalScore - path2.totalScore; + } + } + + protected static class PathComparatorLowestEdge implements Comparator { + public int compare(final Path path1, final Path path2) { + return path2.lowestEdge - path1.lowestEdge; + } + } + + public static List getKBestPaths( final DefaultDirectedGraph graph, final int k ) { + if( k > MAX_PATHS_TO_HOLD/2 ) { throw new ReviewedStingException("Asked for more paths than MAX_PATHS_TO_HOLD!"); } + final ArrayList bestPaths = new ArrayList(); + + // run a DFS for best paths + for( final DeBruijnVertex v : graph.vertexSet() ) { + if( graph.inDegreeOf(v) == 0 ) { + findBestPaths(graph, new Path(v), bestPaths); + } + } + + Collections.sort(bestPaths, new PathComparatorLowestEdge() ); + Collections.reverse(bestPaths); + return bestPaths.subList(0, Math.min(k, bestPaths.size())); + } + + private static void findBestPaths( final DefaultDirectedGraph graph, final Path path, final List bestPaths ) { + findBestPaths(graph, path, bestPaths, new MyInt()); + } + + private static void findBestPaths( final DefaultDirectedGraph graph, final Path path, final List bestPaths, MyInt n ) { + + // did we hit the end of a path? + if ( allOutgoingEdgesHaveBeenVisited(graph, path) ) { + if ( bestPaths.size() >= MAX_PATHS_TO_HOLD ) { + // clean out some low scoring paths + Collections.sort(bestPaths, new PathComparatorLowestEdge() ); + for(int iii = 0; iii < 20; iii++) { bestPaths.remove(0); } + } + bestPaths.add(path); + } else if( n.val > 10000) { + // do nothing, just return + } else { + // recursively run DFS + final ArrayList edgeArrayList = new ArrayList(); + edgeArrayList.addAll(graph.outgoingEdgesOf(path.lastVertex)); + Collections.sort(edgeArrayList); + Collections.reverse(edgeArrayList); + for ( final DeBruijnEdge edge : edgeArrayList ) { + // make sure the edge is not already in the path + if ( path.containsEdge(graph, edge) ) + continue; + + final Path newPath = new Path(path, graph, edge); + n.val++; + findBestPaths(graph, newPath, bestPaths, n); + } + } + } + + private static boolean allOutgoingEdgesHaveBeenVisited( final DefaultDirectedGraph graph, final Path path ) { + for( final DeBruijnEdge edge : graph.outgoingEdgesOf(path.lastVertex) ) { + if( !path.containsEdge(graph, edge) ) { + return false; + } + } + return true; + } +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LikelihoodCalculationEngine.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LikelihoodCalculationEngine.java new file mode 100644 index 000000000..535508d09 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LikelihoodCalculationEngine.java @@ -0,0 +1,403 @@ +/* + * Copyright (c) 2011 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import org.broadinstitute.sting.utils.*; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; + +import java.util.*; + +public class LikelihoodCalculationEngine { + + private static final double LOG_ONE_HALF = -Math.log10(2.0); + private static final double BEST_LIKELIHOOD_THRESHOLD = 0.1; + private final byte constantGCP; + private final boolean DEBUG; + private final PairHMM pairHMM; + + public LikelihoodCalculationEngine( final byte constantGCP, final boolean debug, final boolean noBanded ) { + pairHMM = new PairHMM( noBanded ); + this.constantGCP = constantGCP; + DEBUG = debug; + } + + public void computeReadLikelihoods( final ArrayList haplotypes, final HashMap> perSampleReadList ) { + final int numHaplotypes = haplotypes.size(); + + int X_METRIC_LENGTH = 0; + for( final String sample : perSampleReadList.keySet() ) { + for( final GATKSAMRecord read : perSampleReadList.get(sample) ) { + final int readLength = read.getReadLength(); + if( readLength > X_METRIC_LENGTH ) { X_METRIC_LENGTH = readLength; } + } + } + int Y_METRIC_LENGTH = 0; + for( int jjj = 0; jjj < numHaplotypes; jjj++ ) { + final int haplotypeLength = haplotypes.get(jjj).getBases().length; + if( haplotypeLength > Y_METRIC_LENGTH ) { Y_METRIC_LENGTH = haplotypeLength; } + } + + // M, X, and Y arrays are of size read and haplotype + 1 because of an extra column for initial conditions and + 1 to consider the final base in a non-global alignment + X_METRIC_LENGTH += 2; + Y_METRIC_LENGTH += 2; + + // initial arrays to hold the probabilities of being in the match, insertion and deletion cases + final double[][] matchMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; + final double[][] XMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; + final double[][] YMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; + + PairHMM.initializeArrays(matchMetricArray, XMetricArray, YMetricArray, X_METRIC_LENGTH); + + // for each sample's reads + for( final String sample : perSampleReadList.keySet() ) { + //if( DEBUG ) { System.out.println("Evaluating sample " + sample + " with " + perSampleReadList.get( sample ).size() + " passing reads"); } + // evaluate the likelihood of the reads given those haplotypes + computeReadLikelihoods( haplotypes, perSampleReadList.get(sample), sample, matchMetricArray, XMetricArray, YMetricArray ); + } + } + + private void computeReadLikelihoods( final ArrayList haplotypes, final ArrayList reads, final String sample, + final double[][] matchMetricArray, final double[][] XMetricArray, final double[][] YMetricArray ) { + + final int numHaplotypes = haplotypes.size(); + final int numReads = reads.size(); + final double[][] readLikelihoods = new double[numHaplotypes][numReads]; + for( int iii = 0; iii < numReads; iii++ ) { + final GATKSAMRecord read = reads.get(iii); + + final byte[] overallGCP = new byte[read.getReadLength()]; + Arrays.fill( overallGCP, constantGCP ); // Is there a way to derive empirical estimates for this from the data? + Haplotype previousHaplotypeSeen = null; + final byte[] readQuals = read.getBaseQualities(); + final byte[] readInsQuals = read.getBaseInsertionQualities(); + final byte[] readDelQuals = read.getBaseDeletionQualities(); + for( int kkk = 0; kkk < readQuals.length; kkk++ ) { + readQuals[kkk] = ( readQuals[kkk] > (byte) read.getMappingQuality() ? (byte) read.getMappingQuality() : readQuals[kkk] ); // cap base quality by mapping quality + //readQuals[kkk] = ( readQuals[kkk] > readInsQuals[kkk] ? readInsQuals[kkk] : readQuals[kkk] ); // cap base quality by base insertion quality, needs to be evaluated + //readQuals[kkk] = ( readQuals[kkk] > readDelQuals[kkk] ? readDelQuals[kkk] : readQuals[kkk] ); // cap base quality by base deletion quality, needs to be evaluated + readQuals[kkk] = ( readQuals[kkk] < (byte) 17 ? QualityUtils.MIN_USABLE_Q_SCORE : readQuals[kkk] ); + } + + for( int jjj = 0; jjj < numHaplotypes; jjj++ ) { + final Haplotype haplotype = haplotypes.get(jjj); + final int haplotypeStart = ( previousHaplotypeSeen == null ? 0 : computeFirstDifferingPosition(haplotype.getBases(), previousHaplotypeSeen.getBases()) ); + previousHaplotypeSeen = haplotype; + + readLikelihoods[jjj][iii] = pairHMM.computeReadLikelihoodGivenHaplotype(haplotype.getBases(), read.getReadBases(), + readQuals, readInsQuals, readDelQuals, overallGCP, + haplotypeStart, matchMetricArray, XMetricArray, YMetricArray); + } + } + for( int jjj = 0; jjj < numHaplotypes; jjj++ ) { + haplotypes.get(jjj).addReadLikelihoods( sample, readLikelihoods[jjj] ); + } + } + + private static int computeFirstDifferingPosition( final byte[] b1, final byte[] b2 ) { + for( int iii = 0; iii < b1.length && iii < b2.length; iii++ ){ + if( b1[iii] != b2[iii] ) { + return iii; + } + } + return b1.length; + } + + @Requires({"haplotypes.size() > 0"}) + @Ensures({"result.length == result[0].length", "result.length == haplotypes.size()"}) + public static double[][] computeDiploidHaplotypeLikelihoods( final ArrayList haplotypes, final String sample ) { + // set up the default 1-to-1 haplotype mapping object, BUGBUG: target for future optimization? + final ArrayList> haplotypeMapping = new ArrayList>(); + for( final Haplotype h : haplotypes ) { + final ArrayList list = new ArrayList(); + list.add(h); + haplotypeMapping.add(list); + } + return computeDiploidHaplotypeLikelihoods( sample, haplotypeMapping ); + } + + @Requires({"haplotypeMapping.size() > 0"}) + @Ensures({"result.length == result[0].length", "result.length == haplotypeMapping.size()"}) + public static double[][] computeDiploidHaplotypeLikelihoods( final String sample, final ArrayList> haplotypeMapping ) { + + final int numHaplotypes = haplotypeMapping.size(); + final double[][] haplotypeLikelihoodMatrix = new double[numHaplotypes][numHaplotypes]; + for( int iii = 0; iii < numHaplotypes; iii++ ) { + Arrays.fill(haplotypeLikelihoodMatrix[iii], Double.NEGATIVE_INFINITY); + } + + // compute the diploid haplotype likelihoods + for( int iii = 0; iii < numHaplotypes; iii++ ) { + for( int jjj = 0; jjj <= iii; jjj++ ) { + for( final Haplotype iii_mapped : haplotypeMapping.get(iii) ) { + final double[] readLikelihoods_iii = iii_mapped.getReadLikelihoods(sample); + for( final Haplotype jjj_mapped : haplotypeMapping.get(jjj) ) { + final double[] readLikelihoods_jjj = jjj_mapped.getReadLikelihoods(sample); + double haplotypeLikelihood = 0.0; + for( int kkk = 0; kkk < readLikelihoods_iii.length; kkk++ ) { + // Compute log10(10^x1/2 + 10^x2/2) = log10(10^x1+10^x2)-log10(2) + // First term is approximated by Jacobian log with table lookup. + haplotypeLikelihood += MathUtils.approximateLog10SumLog10(readLikelihoods_iii[kkk], readLikelihoods_jjj[kkk]) + LOG_ONE_HALF; + } + haplotypeLikelihoodMatrix[iii][jjj] = Math.max(haplotypeLikelihoodMatrix[iii][jjj], haplotypeLikelihood); // MathUtils.approximateLog10SumLog10(haplotypeLikelihoodMatrix[iii][jjj], haplotypeLikelihood); // BUGBUG: max or sum? + } + } + } + } + + // normalize the diploid likelihoods matrix + return normalizeDiploidLikelihoodMatrixFromLog10( haplotypeLikelihoodMatrix ); + } + + @Requires({"haplotypes.size() > 0"}) + @Ensures({"result.length == result[0].length", "result.length == haplotypes.size()"}) + public static double[][] computeDiploidHaplotypeLikelihoods( final ArrayList haplotypes, final Set samples ) { + // set up the default 1-to-1 haplotype mapping object, BUGBUG: target for future optimization? + final ArrayList> haplotypeMapping = new ArrayList>(); + for( final Haplotype h : haplotypes ) { + final ArrayList list = new ArrayList(); + list.add(h); + haplotypeMapping.add(list); + } + + final int numHaplotypes = haplotypeMapping.size(); + final double[][] haplotypeLikelihoodMatrix = new double[numHaplotypes][numHaplotypes]; + for( int iii = 0; iii < numHaplotypes; iii++ ) { + Arrays.fill(haplotypeLikelihoodMatrix[iii], Double.NEGATIVE_INFINITY); + } + + // compute the diploid haplotype likelihoods + for( int iii = 0; iii < numHaplotypes; iii++ ) { + for( int jjj = 0; jjj <= iii; jjj++ ) { + for( final Haplotype iii_mapped : haplotypeMapping.get(iii) ) { + for( final Haplotype jjj_mapped : haplotypeMapping.get(jjj) ) { + double haplotypeLikelihood = 0.0; + for( final String sample : samples ) { + final double[] readLikelihoods_iii = iii_mapped.getReadLikelihoods(sample); + final double[] readLikelihoods_jjj = jjj_mapped.getReadLikelihoods(sample); + for( int kkk = 0; kkk < readLikelihoods_iii.length; kkk++ ) { + // Compute log10(10^x1/2 + 10^x2/2) = log10(10^x1+10^x2)-log10(2) + // First term is approximated by Jacobian log with table lookup. + haplotypeLikelihood += MathUtils.approximateLog10SumLog10(readLikelihoods_iii[kkk], readLikelihoods_jjj[kkk]) + LOG_ONE_HALF; + } + } + haplotypeLikelihoodMatrix[iii][jjj] = Math.max(haplotypeLikelihoodMatrix[iii][jjj], haplotypeLikelihood); // MathUtils.approximateLog10SumLog10(haplotypeLikelihoodMatrix[iii][jjj], haplotypeLikelihood); // BUGBUG: max or sum? + } + } + } + } + + // normalize the diploid likelihoods matrix + return normalizeDiploidLikelihoodMatrixFromLog10( haplotypeLikelihoodMatrix ); + } + + @Requires({"likelihoodMatrix.length == likelihoodMatrix[0].length"}) + @Ensures({"result.length == result[0].length", "result.length == likelihoodMatrix.length"}) + protected static double[][] normalizeDiploidLikelihoodMatrixFromLog10( final double[][] likelihoodMatrix ) { + final int numHaplotypes = likelihoodMatrix.length; + double[] genotypeLikelihoods = new double[numHaplotypes*(numHaplotypes+1)/2]; + int index = 0; + for( int iii = 0; iii < numHaplotypes; iii++ ) { + for( int jjj = 0; jjj <= iii; jjj++ ){ + genotypeLikelihoods[index++] = likelihoodMatrix[iii][jjj]; + } + } + genotypeLikelihoods = MathUtils.normalizeFromLog10(genotypeLikelihoods, false, true); + index = 0; + for( int iii = 0; iii < numHaplotypes; iii++ ) { + for( int jjj = 0; jjj <= iii; jjj++ ){ + likelihoodMatrix[iii][jjj] = genotypeLikelihoods[index++]; + } + } + return likelihoodMatrix; + } + + /* + @Requires({"haplotypes.size() > 0"}) + @Ensures({"result.size() <= haplotypes.size()"}) + public ArrayList selectBestHaplotypes( final ArrayList haplotypes ) { + + // BUGBUG: This function needs a lot of work. Need to use 4-gamete test or Tajima's D to decide to break up events into separate pieces for genotyping + + final int numHaplotypes = haplotypes.size(); + final Set sampleKeySet = haplotypes.get(0).getSampleKeySet(); // BUGBUG: assume all haplotypes saw the same samples + final ArrayList bestHaplotypesIndexList = new ArrayList(); + bestHaplotypesIndexList.add(0); // always start with the reference haplotype + final double[][][] haplotypeLikelihoodMatrix = new double[sampleKeySet.size()][numHaplotypes][numHaplotypes]; + + int sampleCount = 0; + for( final String sample : sampleKeySet ) { + haplotypeLikelihoodMatrix[sampleCount++] = computeDiploidHaplotypeLikelihoods( haplotypes, sample ); + } + + int hap1 = 0; + int hap2 = 0; + int chosenSample = 0; + //double bestElement = Double.NEGATIVE_INFINITY; + final int maxChosenHaplotypes = Math.min( 15, sampleKeySet.size() * 2 + 1 ); + while( bestHaplotypesIndexList.size() < maxChosenHaplotypes ) { + double maxElement = Double.NEGATIVE_INFINITY; + for( int kkk = 0; kkk < sampleCount; kkk++ ) { + for( int iii = 0; iii < numHaplotypes; iii++ ) { + for( int jjj = 0; jjj <= iii; jjj++ ) { + if( haplotypeLikelihoodMatrix[kkk][iii][jjj] > maxElement ) { + maxElement = haplotypeLikelihoodMatrix[kkk][iii][jjj]; + hap1 = iii; + hap2 = jjj; + chosenSample = kkk; + } + } + } + } + if( maxElement == Double.NEGATIVE_INFINITY ) { break; } + + if( !bestHaplotypesIndexList.contains(hap1) ) { bestHaplotypesIndexList.add(hap1); } + if( !bestHaplotypesIndexList.contains(hap2) ) { bestHaplotypesIndexList.add(hap2); } + + for( int iii = 0; iii < numHaplotypes; iii++ ) { + for( int jjj = 0; jjj <= iii; jjj++ ) { + haplotypeLikelihoodMatrix[chosenSample][iii][jjj] = Double.NEGATIVE_INFINITY; + } + } + } + + if( DEBUG ) { System.out.println("Chose " + (bestHaplotypesIndexList.size() - 1) + " alternate haplotypes to genotype in all samples."); } + + final ArrayList bestHaplotypes = new ArrayList(); + for( final int hIndex : bestHaplotypesIndexList ) { + bestHaplotypes.add( haplotypes.get(hIndex) ); + } + return bestHaplotypes; + } + */ + + @Requires({"haplotypes.size() > 0"}) + @Ensures({"result.size() <= haplotypes.size()"}) + public ArrayList selectBestHaplotypes( final ArrayList haplotypes ) { + + final int numHaplotypes = haplotypes.size(); + final Set sampleKeySet = haplotypes.get(0).getSampleKeySet(); // BUGBUG: assume all haplotypes saw the same samples + final ArrayList bestHaplotypesIndexList = new ArrayList(); + bestHaplotypesIndexList.add(0); // always start with the reference haplotype + final double[][] haplotypeLikelihoodMatrix = computeDiploidHaplotypeLikelihoods( haplotypes, sampleKeySet ); // all samples pooled together + + int hap1 = 0; + int hap2 = 0; + //double bestElement = Double.NEGATIVE_INFINITY; + final int maxChosenHaplotypes = Math.min( 8, sampleKeySet.size() * 2 + 1 ); + while( bestHaplotypesIndexList.size() < maxChosenHaplotypes ) { + double maxElement = Double.NEGATIVE_INFINITY; + for( int iii = 0; iii < numHaplotypes; iii++ ) { + for( int jjj = 0; jjj <= iii; jjj++ ) { + if( haplotypeLikelihoodMatrix[iii][jjj] > maxElement ) { + maxElement = haplotypeLikelihoodMatrix[iii][jjj]; + hap1 = iii; + hap2 = jjj; + } + } + } + if( maxElement == Double.NEGATIVE_INFINITY ) { break; } + if( DEBUG ) { System.out.println("Chose haplotypes " + hap1 + " and " + hap2 + " with diploid likelihood = " + haplotypeLikelihoodMatrix[hap1][hap2]); } + haplotypeLikelihoodMatrix[hap1][hap2] = Double.NEGATIVE_INFINITY; + + if( !bestHaplotypesIndexList.contains(hap1) ) { bestHaplotypesIndexList.add(hap1); } + if( !bestHaplotypesIndexList.contains(hap2) ) { bestHaplotypesIndexList.add(hap2); } + } + + if( DEBUG ) { System.out.println("Chose " + (bestHaplotypesIndexList.size() - 1) + " alternate haplotypes to genotype in all samples."); } + + final ArrayList bestHaplotypes = new ArrayList(); + for( final int hIndex : bestHaplotypesIndexList ) { + bestHaplotypes.add( haplotypes.get(hIndex) ); + } + return bestHaplotypes; + } + + public static Map>> partitionReadsBasedOnLikelihoods( final GenomeLocParser parser, final HashMap> perSampleReadList, final HashMap> perSampleFilteredReadList, final Pair>> call) { + final Map>> returnMap = new HashMap>>(); + final GenomeLoc callLoc = parser.createGenomeLoc(call.getFirst()); + for( final String sample : perSampleReadList.keySet() ) { + final Map> alleleReadMap = new HashMap>(); + final ArrayList readsForThisSample = perSampleReadList.get(sample); + for( int iii = 0; iii < readsForThisSample.size(); iii++ ) { + final GATKSAMRecord read = readsForThisSample.get(iii); // BUGBUG: assumes read order in this list and haplotype likelihood list are the same! + // only count the read if it overlaps the event, otherwise it is not added to the output read list at all + if( callLoc.overlapsP(parser.createGenomeLoc(read)) ) { + final double likelihoods[] = new double[call.getFirst().getAlleles().size()]; + int count = 0; + for( final Allele a : call.getFirst().getAlleles() ) { // find the allele with the highest haplotype likelihood + double maxLikelihood = Double.NEGATIVE_INFINITY; + for( final Haplotype h : call.getSecond().get(a) ) { // use the max likelihood from all the haplotypes which mapped to this allele (achieved via the haplotype mapper object) + final double likelihood = h.getReadLikelihoods(sample)[iii]; + if( likelihood > maxLikelihood ) { + maxLikelihood = likelihood; + } + } + likelihoods[count++] = maxLikelihood; + } + final int bestAllele = MathUtils.maxElementIndex(likelihoods); + final double bestLikelihood = likelihoods[bestAllele]; + Allele allele = Allele.NO_CALL; + boolean isInformativeRead = false; + for( final double likelihood : likelihoods ) { + if( bestLikelihood - likelihood > BEST_LIKELIHOOD_THRESHOLD ) { + isInformativeRead = true; + break; + } + } + // uninformative reads get the no call Allele + if( isInformativeRead ) { + allele = call.getFirst().getAlleles().get(bestAllele); + } + List readList = alleleReadMap.get(allele); + if( readList == null ) { + readList = new ArrayList(); + alleleReadMap.put(allele, readList); + } + readList.add(read); + } + } + // add all filtered reads to the NO_CALL list because they weren't given any likelihoods + List readList = alleleReadMap.get(Allele.NO_CALL); + if( readList == null ) { + readList = new ArrayList(); + alleleReadMap.put(Allele.NO_CALL, readList); + } + for( final GATKSAMRecord read : perSampleFilteredReadList.get(sample) ) { + // only count the read if it overlaps the event, otherwise it is not added to the output read list at all + if( callLoc.overlapsP(parser.createGenomeLoc(read)) ) { + readList.add(read); + } + } + returnMap.put(sample, alleleReadMap); + } + return returnMap; + } +} \ No newline at end of file diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LocalAssemblyEngine.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LocalAssemblyEngine.java new file mode 100755 index 000000000..bf6c82d82 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LocalAssemblyEngine.java @@ -0,0 +1,25 @@ +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.Haplotype; +import org.broadinstitute.sting.utils.activeregion.ActiveRegion; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; + +import java.util.ArrayList; + +/** + * Created by IntelliJ IDEA. + * User: ebanks + * Date: Mar 14, 2011 + */ +public abstract class LocalAssemblyEngine { + + public enum ASSEMBLER { + SIMPLE_DE_BRUIJN + } + + protected LocalAssemblyEngine() { + } + + public abstract ArrayList runLocalAssembly(ActiveRegion activeRegion, Haplotype refHaplotype, byte[] fullReferenceWithPadding, GenomeLoc refLoc, int PRUNE_FACTOR, ArrayList activeAllelesToGenotype); +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssembler.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssembler.java new file mode 100755 index 000000000..e2bc7a10f --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssembler.java @@ -0,0 +1,372 @@ +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import com.google.java.contract.Ensures; +import org.apache.commons.lang.ArrayUtils; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.Haplotype; +import org.broadinstitute.sting.utils.SWPairwiseAlignment; +import org.broadinstitute.sting.utils.activeregion.ActiveRegion; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.sam.AlignmentUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.sam.ReadUtils; +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; +import org.jgrapht.graph.DefaultDirectedGraph; + +import java.io.PrintStream; +import java.util.*; + +/** + * Created by IntelliJ IDEA. + * User: ebanks, rpoplin + * Date: Mar 14, 2011 + */ + +public class SimpleDeBruijnAssembler extends LocalAssemblyEngine { + + private static final int KMER_OVERLAP = 5; // the additional size of a valid chunk of sequence, used to string together k-mers + private static final int NUM_BEST_PATHS_PER_KMER_GRAPH = 11; + private static final byte MIN_QUALITY = (byte) 17; + + // Smith-Waterman parameters originally copied from IndelRealigner + private static final double SW_MATCH = 5.0; // 1.0; + private static final double SW_MISMATCH = -10.0; //-1.0/3.0; + private static final double SW_GAP = -22.0; //-1.0-1.0/3.0; + private static final double SW_GAP_EXTEND = -1.2; //-1.0/.0; + + private final boolean DEBUG; + private final PrintStream GRAPH_WRITER; + private final ArrayList> graphs = new ArrayList>(); + + private int PRUNE_FACTOR = 1; + + public SimpleDeBruijnAssembler( final boolean debug, final PrintStream graphWriter ) { + super(); + DEBUG = debug; + GRAPH_WRITER = graphWriter; + } + + public ArrayList runLocalAssembly( final ActiveRegion activeRegion, final Haplotype refHaplotype, final byte[] fullReferenceWithPadding, final GenomeLoc refLoc, final int PRUNE_FACTOR, final ArrayList activeAllelesToGenotype ) { + this.PRUNE_FACTOR = PRUNE_FACTOR; + + // create the graphs + createDeBruijnGraphs( activeRegion.getReads(), refHaplotype ); + + // clean up the graphs by pruning and merging + for( final DefaultDirectedGraph graph : graphs ) { + pruneGraph( graph, PRUNE_FACTOR ); + //eliminateNonRefPaths( graph ); + mergeNodes( graph ); + } + + if( GRAPH_WRITER != null ) { + printGraphs(); + } + + // find the best paths in the graphs + return findBestPaths( refHaplotype, fullReferenceWithPadding, refLoc, activeAllelesToGenotype, activeRegion.getExtendedLoc() ); + } + + private void createDeBruijnGraphs( final ArrayList reads, final Haplotype refHaplotype ) { + graphs.clear(); + + // create the graph + for( int kmer = 31; kmer <= 75; kmer += 6 ) { + final DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); + if( createGraphFromSequences( graph, reads, kmer, refHaplotype, DEBUG ) ) { + graphs.add(graph); + } + } + } + + protected static void mergeNodes( final DefaultDirectedGraph graph ) { + boolean foundNodesToMerge = true; + while( foundNodesToMerge ) { + foundNodesToMerge = false; + for( final DeBruijnEdge e : graph.edgeSet() ) { + final DeBruijnVertex outgoingVertex = graph.getEdgeTarget(e); + final DeBruijnVertex incomingVertex = graph.getEdgeSource(e); + if( !outgoingVertex.equals(incomingVertex) && graph.inDegreeOf(outgoingVertex) == 1 && graph.outDegreeOf(incomingVertex) == 1) { + final Set outEdges = graph.outgoingEdgesOf(outgoingVertex); + final Set inEdges = graph.incomingEdgesOf(incomingVertex); + if( inEdges.size() == 1 && outEdges.size() == 1 ) { + inEdges.iterator().next().setMultiplicity( inEdges.iterator().next().getMultiplicity() + ( e.getMultiplicity() / 2 ) ); + outEdges.iterator().next().setMultiplicity( outEdges.iterator().next().getMultiplicity() + ( e.getMultiplicity() / 2 ) ); + } else if( inEdges.size() == 1 ) { + inEdges.iterator().next().setMultiplicity( inEdges.iterator().next().getMultiplicity() + ( e.getMultiplicity() - 1 ) ); + } else if( outEdges.size() == 1 ) { + outEdges.iterator().next().setMultiplicity( outEdges.iterator().next().getMultiplicity() + ( e.getMultiplicity() - 1 ) ); + } + + final DeBruijnVertex addedVertex = new DeBruijnVertex( ArrayUtils.addAll(incomingVertex.getSequence(), outgoingVertex.getSuffix()), outgoingVertex.kmer ); + graph.addVertex(addedVertex); + for( final DeBruijnEdge edge : outEdges ) { + graph.addEdge(addedVertex, graph.getEdgeTarget(edge), new DeBruijnEdge(edge.getIsRef(), edge.getMultiplicity())); + } + for( final DeBruijnEdge edge : inEdges ) { + graph.addEdge(graph.getEdgeSource(edge), addedVertex, new DeBruijnEdge(edge.getIsRef(), edge.getMultiplicity())); + } + + graph.removeVertex( incomingVertex ); + graph.removeVertex( outgoingVertex ); + foundNodesToMerge = true; + break; + } + } + } + } + + protected static void pruneGraph( final DefaultDirectedGraph graph, final int pruneFactor ) { + final ArrayList edgesToRemove = new ArrayList(); + for( final DeBruijnEdge e : graph.edgeSet() ) { + if( e.getMultiplicity() <= pruneFactor && !e.getIsRef() ) { // remove non-reference edges with weight less than or equal to the pruning factor + edgesToRemove.add(e); + } + } + graph.removeAllEdges(edgesToRemove); + + // Run through the graph and clean up singular orphaned nodes + final ArrayList verticesToRemove = new ArrayList(); + for( final DeBruijnVertex v : graph.vertexSet() ) { + if( graph.inDegreeOf(v) == 0 && graph.outDegreeOf(v) == 0 ) { + verticesToRemove.add(v); + } + } + graph.removeAllVertices(verticesToRemove); + } + + protected static void eliminateNonRefPaths( final DefaultDirectedGraph graph ) { + final ArrayList verticesToRemove = new ArrayList(); + boolean done = false; + while( !done ) { + done = true; + for( final DeBruijnVertex v : graph.vertexSet() ) { + if( graph.inDegreeOf(v) == 0 || graph.outDegreeOf(v) == 0 ) { + boolean isRefNode = false; + for( final DeBruijnEdge e : graph.edgesOf(v) ) { + if( e.getIsRef() ) { + isRefNode = true; + break; + } + } + if( !isRefNode ) { + done = false; + verticesToRemove.add(v); + } + } + } + graph.removeAllVertices(verticesToRemove); + verticesToRemove.clear(); + } + } + + private static boolean createGraphFromSequences( final DefaultDirectedGraph graph, final ArrayList reads, final int KMER_LENGTH, final Haplotype refHaplotype, final boolean DEBUG ) { + final byte[] refSequence = refHaplotype.getBases(); + if( refSequence.length >= KMER_LENGTH + KMER_OVERLAP ) { + final int kmersInSequence = refSequence.length - KMER_LENGTH + 1; + for (int i = 0; i < kmersInSequence - 1; i++) { + // get the kmers + final byte[] kmer1 = new byte[KMER_LENGTH]; + System.arraycopy(refSequence, i, kmer1, 0, KMER_LENGTH); + final byte[] kmer2 = new byte[KMER_LENGTH]; + System.arraycopy(refSequence, i+1, kmer2, 0, KMER_LENGTH); + if( !addKmersToGraph(graph, kmer1, kmer2, true) ) { + if( DEBUG ) { + System.out.println("Cycle detected in reference graph for kmer = " + KMER_LENGTH + " ...skipping"); + } + return false; + } + } + } + + for( final GATKSAMRecord read : reads ) { + final byte[] sequence = read.getReadBases(); + final byte[] qualities = read.getBaseQualities(); + if( sequence.length > KMER_LENGTH + KMER_OVERLAP ) { + final int kmersInSequence = sequence.length - KMER_LENGTH + 1; + for( int iii = 0; iii < kmersInSequence - 1; iii++ ) { + // if the qualities of all the bases in the kmers are high enough + boolean badKmer = false; + for( int jjj = iii; jjj < iii + KMER_LENGTH + 1; jjj++) { + if( qualities[jjj] < MIN_QUALITY ) { + badKmer = true; + break; + } + } + if( !badKmer ) { + // get the kmers + final byte[] kmer1 = new byte[KMER_LENGTH]; + System.arraycopy(sequence, iii, kmer1, 0, KMER_LENGTH); + final byte[] kmer2 = new byte[KMER_LENGTH]; + System.arraycopy(sequence, iii+1, kmer2, 0, KMER_LENGTH); + + addKmersToGraph(graph, kmer1, kmer2, false); + } + } + } + } + return true; + } + + protected static boolean addKmersToGraph( final DefaultDirectedGraph graph, final byte[] kmer1, final byte[] kmer2, final boolean isRef ) { + + final int numVertexBefore = graph.vertexSet().size(); + final DeBruijnVertex v1 = new DeBruijnVertex( kmer1, kmer1.length ); + graph.addVertex(v1); + final DeBruijnVertex v2 = new DeBruijnVertex( kmer2, kmer2.length ); + graph.addVertex(v2); + if( isRef && graph.vertexSet().size() == numVertexBefore ) { return false; } + + final DeBruijnEdge targetEdge = graph.getEdge(v1, v2); + if ( targetEdge == null ) { + graph.addEdge(v1, v2, new DeBruijnEdge( isRef )); + } else { + if( isRef ) { + targetEdge.setIsRef( true ); + } + targetEdge.setMultiplicity(targetEdge.getMultiplicity() + 1); + } + return true; + } + + private void printGraphs() { + int count = 0; + for( final DefaultDirectedGraph graph : graphs ) { + GRAPH_WRITER.println("digraph kmer" + count++ +" {"); + for( final DeBruijnEdge edge : graph.edgeSet() ) { + if( edge.getMultiplicity() > PRUNE_FACTOR ) { + GRAPH_WRITER.println("\t" + graph.getEdgeSource(edge).toString() + " -> " + graph.getEdgeTarget(edge).toString() + " [" + (edge.getMultiplicity() <= PRUNE_FACTOR ? "style=dotted,color=grey" : "label=\""+ edge.getMultiplicity() +"\"") + "];"); + } + if( edge.getIsRef() ) { + GRAPH_WRITER.println("\t" + graph.getEdgeSource(edge).toString() + " -> " + graph.getEdgeTarget(edge).toString() + " [color=red];"); + } + if( !edge.getIsRef() && edge.getMultiplicity() <= PRUNE_FACTOR ) { System.out.println("Graph pruning warning!"); } + } + for( final DeBruijnVertex v : graph.vertexSet() ) { + final String label = ( graph.inDegreeOf(v) == 0 ? v.toString() : v.getSuffixString() ); + GRAPH_WRITER.println("\t" + v.toString() + " [label=\"" + label + "\"]"); + } + GRAPH_WRITER.println("}"); + } + } + + @Ensures({"result.contains(refHaplotype)"}) + private ArrayList findBestPaths( final Haplotype refHaplotype, final byte[] fullReferenceWithPadding, final GenomeLoc refLoc, final ArrayList activeAllelesToGenotype, final GenomeLoc activeRegionWindow ) { + final ArrayList returnHaplotypes = new ArrayList(); + + // add the reference haplotype separately from all the others + final SWPairwiseAlignment swConsensus = new SWPairwiseAlignment( fullReferenceWithPadding, refHaplotype.getBases(), SW_MATCH, SW_MISMATCH, SW_GAP, SW_GAP_EXTEND ); + refHaplotype.setAlignmentStartHapwrtRef( swConsensus.getAlignmentStart2wrt1() ); + refHaplotype.setCigar( swConsensus.getCigar() ); + if( !returnHaplotypes.add( refHaplotype ) ) { + throw new ReviewedStingException("Unable to add reference haplotype during assembly: " + refHaplotype); + } + + final int activeRegionStart = refHaplotype.getAlignmentStartHapwrtRef(); + final int activeRegionStop = refHaplotype.getAlignmentStartHapwrtRef() + refHaplotype.getCigar().getReferenceLength(); + + for( final VariantContext compVC : activeAllelesToGenotype ) { // for GGA mode, add the desired allele into the haplotype + for( final Allele compAltAllele : compVC.getAlternateAlleles() ) { + final Haplotype insertedRefHaplotype = refHaplotype.insertAllele(compVC.getReference(), compAltAllele, activeRegionStart + compVC.getStart() - activeRegionWindow.getStart()); + if( !addHaplotype( insertedRefHaplotype, fullReferenceWithPadding, returnHaplotypes, activeRegionStart, activeRegionStop ) ) { + return returnHaplotypes; + //throw new ReviewedStingException("Unable to add reference+allele haplotype during GGA-enabled assembly: " + insertedRefHaplotype); + } + } + } + + for( final DefaultDirectedGraph graph : graphs ) { + for ( final KBestPaths.Path path : KBestPaths.getKBestPaths(graph, NUM_BEST_PATHS_PER_KMER_GRAPH) ) { + final Haplotype h = new Haplotype( path.getBases( graph ), path.getScore() ); + if( addHaplotype( h, fullReferenceWithPadding, returnHaplotypes, activeRegionStart, activeRegionStop ) ) { + if( !activeAllelesToGenotype.isEmpty() ) { // for GGA mode, add the desired allele into the haplotype if it isn't already present + final HashMap eventMap = GenotypingEngine.generateVCsFromAlignment( h.getAlignmentStartHapwrtRef(), h.getCigar(), fullReferenceWithPadding, h.getBases(), refLoc, "HCassembly", 0 ); // BUGBUG: need to put this function in a shared place + for( final VariantContext compVC : activeAllelesToGenotype ) { // for GGA mode, add the desired allele into the haplotype if it isn't already present + final VariantContext vcOnHaplotype = eventMap.get(compVC.getStart()); + if( vcOnHaplotype == null || !vcOnHaplotype.hasSameAllelesAs(compVC) ) { + for( final Allele compAltAllele : compVC.getAlternateAlleles() ) { + addHaplotype( h.insertAllele(compVC.getReference(), compAltAllele, activeRegionStart + compVC.getStart() - activeRegionWindow.getStart()), fullReferenceWithPadding, returnHaplotypes, activeRegionStart, activeRegionStop ); + } + } + } + } + } + } + } + + if( DEBUG ) { + if( returnHaplotypes.size() > 1 ) { + System.out.println("Found " + returnHaplotypes.size() + " candidate haplotypes to evaluate every read against."); + } else { + System.out.println("Found only the reference haplotype in the assembly graph."); + } + for( final Haplotype h : returnHaplotypes ) { + System.out.println( h.toString() ); + System.out.println( "> Cigar = " + h.getCigar() ); + } + } + + return returnHaplotypes; + } + + private boolean addHaplotype( final Haplotype haplotype, final byte[] ref, final ArrayList haplotypeList, final int activeRegionStart, final int activeRegionStop ) { + //final int sizeOfActiveRegion = activeRegionStop - activeRegionStart; + final SWPairwiseAlignment swConsensus = new SWPairwiseAlignment( ref, haplotype.getBases(), SW_MATCH, SW_MISMATCH, SW_GAP, SW_GAP_EXTEND ); + haplotype.setAlignmentStartHapwrtRef( swConsensus.getAlignmentStart2wrt1() ); + haplotype.setCigar( AlignmentUtils.leftAlignIndel(swConsensus.getCigar(), ref, haplotype.getBases(), swConsensus.getAlignmentStart2wrt1(), 0) ); + + if( swConsensus.getCigar().toString().contains("S") || swConsensus.getCigar().getReferenceLength() < 60 ) { // protect against SW failures + return false; + } + + final int hapStart = ReadUtils.getReadCoordinateForReferenceCoordinate( haplotype.getAlignmentStartHapwrtRef(), haplotype.getCigar(), activeRegionStart, ReadUtils.ClippingTail.LEFT_TAIL, true ); + int hapStop = ReadUtils.getReadCoordinateForReferenceCoordinate( haplotype.getAlignmentStartHapwrtRef(), haplotype.getCigar(), activeRegionStop, ReadUtils.ClippingTail.RIGHT_TAIL, true ); + if( hapStop == ReadUtils.CLIPPING_GOAL_NOT_REACHED && activeRegionStop == haplotype.getAlignmentStartHapwrtRef() + haplotype.getCigar().getReferenceLength() ) { + hapStop = activeRegionStop; // contract for getReadCoordinateForReferenceCoordinate function says that if read ends at boundary then it is outside of the clipping goal + } + byte[] newHaplotypeBases; + // extend partial haplotypes to contain the full active region sequence + int leftBreakPoint = 0; + int rightBreakPoint = 0; + if( hapStart == ReadUtils.CLIPPING_GOAL_NOT_REACHED && hapStop == ReadUtils.CLIPPING_GOAL_NOT_REACHED ) { + newHaplotypeBases = ArrayUtils.addAll( ArrayUtils.addAll( ArrayUtils.subarray(ref, activeRegionStart, swConsensus.getAlignmentStart2wrt1()), + haplotype.getBases()), + ArrayUtils.subarray(ref, swConsensus.getAlignmentStart2wrt1() + swConsensus.getCigar().getReferenceLength(), activeRegionStop) ); + leftBreakPoint = swConsensus.getAlignmentStart2wrt1() - activeRegionStart; + rightBreakPoint = leftBreakPoint + haplotype.getBases().length; + //newHaplotypeBases = haplotype.getBases(); + //return false; // piece of haplotype isn't anchored within the active region so don't build a haplotype out of it + } else if( hapStart == ReadUtils.CLIPPING_GOAL_NOT_REACHED ) { + //return false; + newHaplotypeBases = ArrayUtils.addAll( ArrayUtils.subarray(ref, activeRegionStart, swConsensus.getAlignmentStart2wrt1()), ArrayUtils.subarray(haplotype.getBases(), 0, hapStop) ); + //newHaplotypeBases = ArrayUtils.subarray(haplotype.getBases(), 0, hapStop); + leftBreakPoint = swConsensus.getAlignmentStart2wrt1() - activeRegionStart; + } else if( hapStop == ReadUtils.CLIPPING_GOAL_NOT_REACHED ) { + //return false; + newHaplotypeBases = ArrayUtils.addAll( ArrayUtils.subarray(haplotype.getBases(), hapStart, haplotype.getBases().length), ArrayUtils.subarray(ref, swConsensus.getAlignmentStart2wrt1() + swConsensus.getCigar().getReferenceLength(), activeRegionStop) ); + //newHaplotypeBases = ArrayUtils.subarray(haplotype.getBases(), hapStart, haplotype.getBases().length); + rightBreakPoint = haplotype.getBases().length - hapStart; + } else { + newHaplotypeBases = ArrayUtils.subarray(haplotype.getBases(), hapStart, hapStop); + } + + final Haplotype h = new Haplotype( newHaplotypeBases ); + final SWPairwiseAlignment swConsensus2 = new SWPairwiseAlignment( ref, h.getBases(), SW_MATCH, SW_MISMATCH, SW_GAP, SW_GAP_EXTEND ); + + h.setAlignmentStartHapwrtRef( swConsensus2.getAlignmentStart2wrt1() ); + h.setCigar( AlignmentUtils.leftAlignIndel(swConsensus2.getCigar(), ref, h.getBases(), swConsensus2.getAlignmentStart2wrt1(), 0) ); + h.leftBreakPoint = leftBreakPoint; + h.rightBreakPoint = rightBreakPoint; + if( swConsensus2.getCigar().toString().contains("S") || swConsensus2.getCigar().getReferenceLength() != activeRegionStop - activeRegionStart ) { // protect against SW failures + return false; + } + + if( !haplotypeList.contains(h) ) { + haplotypeList.add(h); + return true; + } else { + return false; + } + } +} \ No newline at end of file diff --git a/protected/java/src/org/broadinstitute/sting/package-info.java b/protected/java/src/org/broadinstitute/sting/package-info.java new file mode 100644 index 000000000..980eb6393 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/package-info.java @@ -0,0 +1,5 @@ +/** + * Provides map/reduce application framework highly optimized for analysis of sequencing data. + * @version 1.0 + */ +package org.broadinstitute.sting; diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRIntegrationTest.java new file mode 100644 index 000000000..1d506b88c --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRIntegrationTest.java @@ -0,0 +1,125 @@ +package org.broadinstitute.sting.gatk.walkers.bqsr; + +import org.broadinstitute.sting.WalkerTest; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.Arrays; + +/** + * @author ebanks + * @since 7/16/12 + */ +public class BQSRIntegrationTest extends WalkerTest { + + private static class BQSRTest { + final String reference; + final String interval; + final String bam; + final String args; + final String md5; + + private BQSRTest(String reference, String bam, String interval, String args, String md5) { + this.reference = reference; + this.bam = bam; + this.interval = interval; + this.args = args; + this.md5 = md5; + } + + @Override + public String toString() { + return String.format("BQSR(bam='%s', args='%s')", bam, args); + } + } + + @DataProvider(name = "BQSRTest") + public Object[][] createBQSRTestData() { + String HiSeqBam = privateTestDir + "HiSeq.1mb.1RG.bam"; + String HiSeqInterval = "chr1:10,000,000-10,100,000"; + return new Object[][]{ + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, "", "087dbc3e3f0cee6b891aecad2d0faf25")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --no_standard_covs -cov ContextCovariate", "8a69591f728b3a2cdd79ff26bbebcc26")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --no_standard_covs -cov CycleCovariate", "73d649bce0b69f56452de8c7e0a8686d")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --indels_context_size 4", "d9512cebf54ea120539059976b33d1ca")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --low_quality_tail 5", "f61a8df03aae8c4273acf2b72497f154")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --quantizing_levels 6", "7c2ce84e521d8f19fe5061b4e40317f7")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --mismatches_context_size 4", "66a0caad65ab41d9013e812617e67370")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.1Mb.1RG.bam", "1:10,000,000-10,200,000", "", "6f5e9836147b488a7a204cffa5ecd21e")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "1:10,000,000-10,200,000", "", "444fdfca7835e6a3714445f7e60abcaf")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA12873.454.SRP000031.2009_06.chr1.10_20mb.1RG.bam", "1:10,000,000-10,200,000", "", "e0bfaf38f45142d45c8fe0ae05d0d4e0")}, + {new BQSRTest(b36KGReference, validationDataLocation + "originalQuals.1kg.chr1.1-1K.1RG.bam", "1:1-1,000", " -OQ", "5b30760bab51b4d1fc02097d4eacefa4")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "1:10,000,000-20,000,000", " --solid_recal_mode REMOVE_REF_BIAS", "742fd8edfa36ab9023ceeaac40c4e215")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.1Mb.1RG.bam", "1:10,000,000-10,200,000", " -knownSites:anyNameABCD,VCF " + privateTestDir + "vcfexample3.vcf", "6f5e9836147b488a7a204cffa5ecd21e")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.1Mb.1RG.bam", "1:10,000,000-10,200,000", " -knownSites:bed " + validationDataLocation + "bqsrKnownTest.bed", "22dd42897cf20852712c6e8f63195443")}, + }; + } + + @Test(dataProvider = "BQSRTest") + public void testBQSR(BQSRTest params) { + WalkerTestSpec spec = new WalkerTestSpec( + " -T BaseRecalibrator" + + " -R " + params.reference + + " -I " + params.bam + + " -L " + params.interval + + params.args + + " --no_plots" + + " -knownSites " + (params.reference.equals(b36KGReference) ? b36dbSNP129 : hg18dbSNP132) + + " -o %s", + Arrays.asList(params.md5)); + executeTest("testBQSR-"+params.args, spec).getFirst(); + } + + @Test + public void testBQSRFailWithoutDBSNP() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + " -T BaseRecalibrator" + + " -R " + b36KGReference + + " -I " + validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.bam" + + " -L 1:10,000,000-10,200,000" + + " --no_plots" + + " -o %s", + 1, // just one output file + UserException.CommandLineException.class); + executeTest("testBQSRFailWithoutDBSNP", spec); + } + + private static class PRTest { + final String args; + final String md5; + + private PRTest(String args, String md5) { + this.args = args; + this.md5 = md5; + } + + @Override + public String toString() { + return String.format("PrintReads(args='%s')", args); + } + } + + @DataProvider(name = "PRTest") + public Object[][] createPRTestData() { + return new Object[][]{ + {new PRTest("", "d2d6ed8667cdba7e56f5db97d6262676")}, + {new PRTest(" -qq -1", "b7053d3d67aba6d8892f0a60f0ded338")}, + {new PRTest(" -qq 6", "bfbf0855185b2b70aa35237fb71e4487")}, + {new PRTest(" -DIQ", "66aa65223f192ee39c1773aa187fd493")} + }; + } + + @Test(dataProvider = "PRTest") + public void testPR(PRTest params) { + WalkerTestSpec spec = new WalkerTestSpec( + "-T PrintReads" + + " -R " + hg18Reference + + " -I " + privateTestDir + "HiSeq.1mb.1RG.bam" + + " -BQSR " + privateTestDir + "HiSeq.1mb.1RG.table" + + params.args + + " -o %s", + Arrays.asList(params.md5)); + executeTest("testPrintReads-"+params.args, spec).getFirst(); + } +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCountsUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCountsUnitTest.java new file mode 100644 index 000000000..a8707641a --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCountsUnitTest.java @@ -0,0 +1,69 @@ +// our package +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + + +// the imports for unit testing. + + +import org.broadinstitute.sting.BaseTest; +import org.testng.Assert; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.ArrayList; +import java.util.List; + +/** + * Basic unit test for BaseCounts in reduced reads + */ +public class BaseCountsUnitTest extends BaseTest { + private class SingleTest { + public String bases; + public byte mostCountBase; + public int mostCommonCount; + + private SingleTest(String bases, char mostCountBase, int mostCommonCount) { + this.mostCommonCount = mostCommonCount; + this.mostCountBase = (byte)mostCountBase; + this.bases = bases; + } + } + + + @DataProvider(name = "data") + public Object[][] createData1() { + List params = new ArrayList(); + + params.add(new SingleTest("A", 'A', 1 )); + params.add(new SingleTest("AA", 'A', 2 )); + params.add(new SingleTest("AC", 'A', 1 )); + params.add(new SingleTest("AAC", 'A', 2 )); + params.add(new SingleTest("AAA", 'A', 3 )); + params.add(new SingleTest("AAAN", 'A', 3 )); + params.add(new SingleTest("AAANNNN", 'N', 4 )); + params.add(new SingleTest("AACTG", 'A', 2 )); + params.add(new SingleTest("D", 'D', 1 )); + params.add(new SingleTest("DDAAD", 'D', 3)); + params.add(new SingleTest("", (char)BaseCounts.MAX_BASE_WITH_NO_COUNTS, 0 )); + params.add(new SingleTest("AAIIIAI", 'I', 4 )); + + List params2 = new ArrayList(); + for ( SingleTest x : params ) params2.add(new Object[]{x}); + return params2.toArray(new Object[][]{}); + } + + + + @Test(dataProvider = "data", enabled = true) + public void testCounting(SingleTest params) { + BaseCounts counts = new BaseCounts(); + + for ( byte base : params.bases.getBytes() ) + counts.incr(base); + + String name = String.format("Test-%s", params.bases); + Assert.assertEquals(counts.totalCount(), params.bases.length(), name); + Assert.assertEquals(counts.countOfMostCommonBase(), params.mostCommonCount, name); + Assert.assertEquals((char)counts.baseWithMostCounts(), (char)params.mostCountBase, name); + } +} \ No newline at end of file diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsIntegrationTest.java new file mode 100755 index 000000000..08f7ddd37 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsIntegrationTest.java @@ -0,0 +1,68 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import org.broadinstitute.sting.WalkerTest; +import org.testng.annotations.Test; + +import java.util.Arrays; + +public class ReduceReadsIntegrationTest extends WalkerTest { + final static String REF = b37KGReference; + final String BAM = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.bam"; + final String DELETION_BAM = validationDataLocation + "filtered_deletion_for_reduce_reads.bam"; + final String STASH_BAM = validationDataLocation + "ReduceReadsStashBug.bam"; + final String STASH_L = " -L 14:73718184-73718284 -L 14:73718294-73718330 -L 14:73718360-73718556"; + final String L = " -L 20:10,100,000-10,120,000 "; + + private void RRTest(String testName, String args, String md5) { + String base = String.format("-T ReduceReads -npt -R %s -I %s ", REF, BAM) + " -o %s "; + WalkerTestSpec spec = new WalkerTestSpec(base + args, Arrays.asList(md5)); + executeTest(testName, spec); + } + + @Test(enabled = true) + public void testDefaultCompression() { + RRTest("testDefaultCompression ", L, "323dd4deabd7767efa0f2c6e7fa4189f"); + } + + @Test(enabled = true) + public void testMultipleIntervals() { + String intervals = "-L 20:10,100,000-10,100,500 -L 20:10,200,000-10,200,500 -L 20:10,300,000-10,300,500 -L 20:10,400,000-10,500,000 -L 20:10,500,050-10,500,060 -L 20:10,600,000-10,600,015 -L 20:10,700,000-10,700,110"; + RRTest("testMultipleIntervals ", intervals, "c437fb160547ff271f8eba30e5f3ff76"); + } + + @Test(enabled = true) + public void testHighCompression() { + RRTest("testHighCompression ", " -cs 10 -minvar 0.3 -mindel 0.3 " + L, "3a607bc3ebaf84e9dc44e005c5f8a047"); + } + + @Test(enabled = true) + public void testLowCompression() { + RRTest("testLowCompression ", " -cs 30 -minvar 0.01 -mindel 0.01 -minmap 5 -minqual 5 " + L, "afd39459c841b68a442abdd5ef5f8f27"); + } + + @Test(enabled = true) + public void testIndelCompression() { + RRTest("testIndelCompression ", " -cs 50 -L 20:10,100,500-10,100,600 ", "f7b9fa44c10bc4b2247813d2b8dc1973"); + } + + @Test(enabled = true) + public void testFilteredDeletionCompression() { + String base = String.format("-T ReduceReads -npt -R %s -I %s ", REF, DELETION_BAM) + " -o %s "; + executeTest("testFilteredDeletionCompression", new WalkerTestSpec(base, Arrays.asList("891bd6dcda66611f343e8ff25f34aaeb"))); + } + + /** + * Bug reported by Adam where a read that got clipped before actually belongs 2 intervals ahead + * and a subsequent tail leaves only this read in the stash. The next read to come in is in fact + * before (alignment start) than this read, so the TreeSet breaks with a Key out of Range error + * that was freaking hard to catch. + * + * This bam is simplified to replicate the exact bug with the three provided intervals. + */ + @Test(enabled = true) + public void testAddingReadAfterTailingTheStash() { + String base = String.format("-T ReduceReads %s -npt -R %s -I %s", STASH_L, REF, STASH_BAM) + " -o %s "; + executeTest("testAddingReadAfterTailingTheStash", new WalkerTestSpec(base, Arrays.asList("886b43e1f26ff18425814dc7563931c6"))); + } +} + diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticReadUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticReadUnitTest.java new file mode 100644 index 000000000..e651c018c --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticReadUnitTest.java @@ -0,0 +1,85 @@ +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import net.sf.samtools.SAMFileHeader; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.testng.Assert; +import org.testng.annotations.Test; + +import java.util.Arrays; +import java.util.Random; + +public class SyntheticReadUnitTest extends BaseTest { + final SAMFileHeader artificialSAMHeader = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1); + final GATKSAMReadGroupRecord artificialGATKRG = new GATKSAMReadGroupRecord("synthetic"); + final String artificialContig = "1"; + final int artificialContigIndex = 0; + final String artificialReadName = "synth"; + final int artificialRefStart = 1; + final double artificialMappingQuality = 60; + + final Random random = new Random(8854875); + + +@Test +public void testBaseCounts() { + BaseIndex [] bases = new BaseIndex[] {BaseIndex.A,BaseIndex.A,BaseIndex.A,BaseIndex.A}; + Byte[] quals = new Byte[] {20, 20, 20, 20 }; + + TestRead [] testReads = new TestRead [] { + new TestRead(bases, quals, new Byte[] {100, 100, 100, 101}, new byte [] {100, 0, 0, 1}), + new TestRead(bases, quals, new Byte[] {1, 100, 100, 0}, new byte [] {1, 99, 99, -1}), + new TestRead(bases, quals, new Byte[] {127, 100, 0, 1}, new byte [] {127, -27, -127, -126}), + new TestRead(bases, quals, new Byte[] {1, 127, 51, 126}, new byte [] {1, 126, 50, 125})}; + + for (TestRead testRead : testReads) { + SyntheticRead syntheticRead = new SyntheticRead(Arrays.asList(testRead.getBases()), Arrays.asList(testRead.getCounts()), Arrays.asList(testRead.getQuals()), Arrays.asList(testRead.getInsQuals()), Arrays.asList(testRead.getDelQuals()), artificialMappingQuality, GATKSAMRecord.REDUCED_READ_CONSENSUS_TAG, artificialSAMHeader, artificialGATKRG, artificialContig, artificialContigIndex, artificialReadName, artificialRefStart, false); + Assert.assertEquals(syntheticRead.convertBaseCounts(), testRead.getExpectedCounts()); + } +} + +private class TestRead { + BaseIndex[] bases; + Byte[] quals; + Byte[] insQuals; + Byte[] delQuals; + Byte[] counts; + byte [] expectedCounts; + + private TestRead(BaseIndex[] bases, Byte[] quals, Byte[] counts, byte[] expectedCounts) { + this.bases = bases; + this.quals = quals; + this.insQuals = quals; + this.delQuals = quals; + this.counts = counts; + this.expectedCounts = expectedCounts; + } + + public BaseIndex[] getBases() { + return bases; + } + + public Byte[] getQuals() { + return quals; + } + + public Byte[] getInsQuals() { + return insQuals; + } + + public Byte[] getDelQuals() { + return delQuals; + } + + public Byte[] getCounts() { + return counts; + } + + public byte[] getExpectedCounts() { + return expectedCounts; + } +} + +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/PoolAFCalculationModelUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/PoolAFCalculationModelUnitTest.java new file mode 100644 index 000000000..5a6f7df0f --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/PoolAFCalculationModelUnitTest.java @@ -0,0 +1,156 @@ +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.broadinstitute.sting.utils.variantcontext.Genotype; +import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder; +import org.broadinstitute.sting.utils.variantcontext.GenotypesContext; +import org.testng.Assert; +import org.testng.annotations.BeforeSuite; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.Arrays; + +/** + * Created by IntelliJ IDEA. + * User: delangel + * Date: 3/28/12 + * Time: 7:44 AM + * To change this template use File | Settings | File Templates. + */ +public class PoolAFCalculationModelUnitTest extends BaseTest { + + static double[] AA1, AB1, BB1; + static double[] AA2, AB2, AC2, BB2, BC2, CC2; + static double[] A4_1, B4_1, C4_1, D4_1, E4_1,F4_1; + static double[] A4_400, B4_310, C4_220, D4_130, E4_121, F4_013; + static final int numSamples = 4; + static final int samplePloidy = 4; // = 2*samplesPerPool + + @BeforeSuite + public void before() { + // legacy diploid cases + AA1 = new double[]{-5.0, -20.0, -20.0}; + AB1 = new double[]{-20.0, 0.0, -20.0}; + BB1 = new double[]{-20.0, -20.0, 0.0}; + + // diploid, nAlleles = 3. Ordering is [2 0 0] [1 1 0] [0 2 0] [1 0 1] [0 1 1] [0 0 2], ie AA AB BB AC BC CC + AA2 = new double[]{0.0, -20.0, -20.0, -20.0, -20.0, -20.0}; + AB2 = new double[]{-20.0, 0.0, -20.0, -20.0, -20.0, -20.0}; + AC2 = new double[]{-20.0, -20.0, -20.0, 0.0, -20.0, -20.0}; + BB2 = new double[]{-20.0, -20.0, 0.0, -20.0, -20.0, -20.0}; + BC2 = new double[]{-20.0, -20.0, -20.0, -20.0, 0.0, -20.0}; + CC2 = new double[]{-20.0, -20.0, -20.0, -20.0, -20.0, 0.0}; + + // pool (i.e. polyploid cases) + // NAlleles = 2, ploidy=4 + // ordering is [4 0] [3 1] [2 2 ] [1 3] [0 4] + + A4_1 = new double[]{-3.0, -20.0, -20.0, -20.0, -20.0}; + B4_1 = new double[]{-20.0, 0.0, -20.0, -20.0, -20.0}; + C4_1 = new double[]{-20.0, -20.0, 0.0, -20.0, -20.0}; + D4_1 = new double[]{-20.0, -20.0, 0.0, 0.0, -20.0}; + E4_1 = new double[]{-20.0, -20.0, 0.0, 0.0, -20.0}; + F4_1 = new double[]{-20.0, -20.0, -20.0, -20.0, 0.0}; + + // NAlleles = 3, ploidy = 4 + // ordering is [4 0 0] [3 1 0] [2 2 0] [1 3 0] [0 4 0] [3 0 1] [2 1 1] [1 2 1] [0 3 1] [2 0 2] [1 1 2] [0 2 2] [1 0 3] [0 1 3] [0 0 4] + A4_400 = new double[]{0.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0}; + B4_310 = new double[]{-20.0, 0.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0}; + C4_220 = new double[]{-20.0, -20.0, 0.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0}; + D4_130 = new double[]{-20.0, -20.0, -20.0, 0.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0}; + E4_121 = new double[]{-20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, 0.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0}; + F4_013 = new double[]{-20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, -20.0, 0.0, -20.0}; + + } + + private class GetGLsTest extends TestDataProvider { + GenotypesContext GLs; + int numAltAlleles; + String name; + int ploidy; + private GetGLsTest(String name, int numAltAlleles, int ploidy, Genotype... arg) { + super(GetGLsTest.class, name); + GLs = GenotypesContext.create(arg); + this.name = name; + this.numAltAlleles = numAltAlleles; + this.ploidy = ploidy; + } + + public String toString() { + return String.format("%s input=%s", super.toString(), GLs); + } + } + + private static Genotype createGenotype(String name, double[] gls, int ploidy) { + Allele[] alleles = new Allele[ploidy]; + + for (int i=0; i < ploidy; i++) + alleles[i] = Allele.NO_CALL; + + return new GenotypeBuilder(name, Arrays.asList(alleles)).PL(gls).make(); + } + + @DataProvider(name = "getGLs") + public Object[][] createGLsData() { + + // bi-allelic diploid case + new GetGLsTest("B0", 1, 2, createGenotype("AA1", AA1,2), createGenotype("AA2", AA1,2), createGenotype("AA3", AA1,2)); + new GetGLsTest("B1", 1, 2, createGenotype("AA1", AA1,2), createGenotype("AA2", AA1,2), createGenotype("AB", AB1,2)); + new GetGLsTest("B2", 1, 2, createGenotype("AA1", AA1,2), createGenotype("BB", BB1,2), createGenotype("AA2", AA1,2)); + new GetGLsTest("B3a", 1, 2, createGenotype("AB", AB1,2), createGenotype("AA", AA1,2), createGenotype("BB", BB1,2)); + new GetGLsTest("B3b", 1, 2, createGenotype("AB1", AB1,2), createGenotype("AB2", AB1,2), createGenotype("AB3", AB1,2)); + new GetGLsTest("B4", 1, 2, createGenotype("BB1", BB1,2), createGenotype("BB2", BB1,2), createGenotype("AA", AA1,2)); + new GetGLsTest("B5", 1, 2, createGenotype("BB1", BB1,2), createGenotype("AB", AB1,2), createGenotype("BB2", BB1,2)); + new GetGLsTest("B6", 1, 2, createGenotype("BB1", BB1,2), createGenotype("BB2", BB1,2), createGenotype("BB3", BB1,2)); + + // tri-allelic diploid case + new GetGLsTest("B1C0", 2, 2, createGenotype("AA1", AA2,2), createGenotype("AA2", AA2,2), createGenotype("AB", AB2,2)); + new GetGLsTest("B0C1", 2, 2, createGenotype("AA1", AA2,2), createGenotype("AA2", AA2,2), createGenotype("AC", AC2,2)); + new GetGLsTest("B1C1a", 2,2, createGenotype("AA", AA2,2), createGenotype("AB", AB2,2), createGenotype("AC", AC2,2)); + new GetGLsTest("B1C1b", 2,2, createGenotype("AA1", AA2,2), createGenotype("AA2", AA2,2), createGenotype("BC", BC2,2)); + new GetGLsTest("B2C1", 2, 2, createGenotype("AB1", AB2,2), createGenotype("AB2", AB2,2), createGenotype("AC", AC2,2)); + new GetGLsTest("B3C2a", 2, 2, createGenotype("AB", AB2,2), createGenotype("BC1", BC2,2), createGenotype("BC2", BC2,2)); + new GetGLsTest("B3C2b", 2, 2, createGenotype("AB", AB2,2), createGenotype("BB", BB2,2), createGenotype("CC", CC2,2)); + + // bi-allelic pool case + new GetGLsTest("P0", 1, samplePloidy, createGenotype("A4_1", A4_1,samplePloidy), createGenotype("A4_1", A4_1,samplePloidy), createGenotype("A4_1", A4_1,samplePloidy)); + new GetGLsTest("P1", 1, samplePloidy,createGenotype("A4_1", A4_1,samplePloidy), createGenotype("B4_1", B4_1,samplePloidy), createGenotype("A4_1", A4_1,samplePloidy)); + new GetGLsTest("P2a", 1,samplePloidy, createGenotype("A4_1", A4_1,samplePloidy), createGenotype("C4_1", C4_1,samplePloidy), createGenotype("A4_1", A4_1,samplePloidy)); + new GetGLsTest("P2b", 1, samplePloidy,createGenotype("B4_1", B4_1,samplePloidy), createGenotype("B4_1", B4_1,samplePloidy), createGenotype("A4_1", A4_1,samplePloidy)); + new GetGLsTest("P4", 1, samplePloidy,createGenotype("A4_1", A4_1,samplePloidy), createGenotype("C4_1", C4_1,samplePloidy), createGenotype("C4_1", C4_1,samplePloidy)); + new GetGLsTest("P6", 1, samplePloidy,createGenotype("A4_1", A4_1,samplePloidy), createGenotype("F4_1", F4_1,samplePloidy), createGenotype("C4_1", C4_1,samplePloidy)); + new GetGLsTest("P8", 1, samplePloidy,createGenotype("A4_1", A4_1,samplePloidy), createGenotype("F4_1", F4_1,samplePloidy), createGenotype("F4_1", F4_1,samplePloidy)); + + // multi-allelic pool case + new GetGLsTest("B1C3", 2, samplePloidy,createGenotype("A4_400", A4_400,samplePloidy), createGenotype("A4_400", A4_400,samplePloidy), createGenotype("F4_013", F4_013,samplePloidy)); + new GetGLsTest("B3C9", 2, samplePloidy,createGenotype("F4_013", F4_013,samplePloidy), createGenotype("F4_013", F4_013,samplePloidy), createGenotype("F4_013", F4_013,samplePloidy)); + new GetGLsTest("B6C0", 2, samplePloidy,createGenotype("B4_310", B4_310,samplePloidy), createGenotype("C4_220", C4_220,samplePloidy), createGenotype("D4_130", D4_130,samplePloidy)); + new GetGLsTest("B6C4", 2, samplePloidy,createGenotype("D4_130", D4_130,samplePloidy), createGenotype("E4_121", E4_121,samplePloidy), createGenotype("F4_013", F4_013,samplePloidy)); + new GetGLsTest("B4C7", 2, samplePloidy,createGenotype("F4_013", F4_013,samplePloidy), createGenotype("E4_121", E4_121,samplePloidy), createGenotype("F4_013", F4_013,samplePloidy)); + new GetGLsTest("B2C3", 2, samplePloidy,createGenotype("A4_400", A4_400,samplePloidy), createGenotype("F4_013", F4_013,samplePloidy), createGenotype("B4_310", B4_310,samplePloidy)); + + return GetGLsTest.getTests(GetGLsTest.class); + } + + @Test(dataProvider = "getGLs") + public void testGLs(GetGLsTest cfg) { + + final AlleleFrequencyCalculationResult result = new AlleleFrequencyCalculationResult(cfg.numAltAlleles); + final int len = PoolGenotypeLikelihoods.getNumLikelihoodElements(1+cfg.numAltAlleles,cfg.ploidy*cfg.GLs.size()); + double[] priors = new double[len]; // flat priors + + PoolAFCalculationModel.combineSinglePools(cfg.GLs, 1+cfg.numAltAlleles, cfg.ploidy, priors, result); + int nameIndex = 1; + for ( int allele = 0; allele < cfg.numAltAlleles; allele++, nameIndex+=2 ) { + int expectedAlleleCount = Integer.valueOf(cfg.name.substring(nameIndex, nameIndex+1)); + int calculatedAlleleCount = result.getAlleleCountsOfMAP()[allele]; + +// System.out.format( "%s Expected:%d Calc:%d\n",cfg.toString(),expectedAlleleCount, calculatedAlleleCount); + Assert.assertEquals(calculatedAlleleCount, expectedAlleleCount); + } + } + + +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/PoolCallerIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/PoolCallerIntegrationTest.java new file mode 100644 index 000000000..903465538 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/PoolCallerIntegrationTest.java @@ -0,0 +1,61 @@ +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.broadinstitute.sting.WalkerTest; + +import java.util.Arrays; +import org.testng.annotations.Test; + +/** + * Created by IntelliJ IDEA. + * User: delangel + * Date: 4/5/12 + * Time: 11:28 AM + * To change this template use File | Settings | File Templates. + */ +public class PoolCallerIntegrationTest extends WalkerTest { + final static String REF = b37KGReference; + final String CEUTRIO_BAM = "/humgen/gsa-hpprojects/NA12878Collection/bams/CEUTrio.HiSeq.WGS.b37.list"; + final String LSV_BAM = validationDataLocation +"93pools_NA12878_ref_chr20_40m_41m.bam"; + final String REFSAMPLE_MT_CALLS = comparisonDataLocation + "Unvalidated/mtDNA/NA12878.snp.vcf"; + final String REFSAMPLE_NAME = "NA12878"; + final String MTINTERVALS = "MT"; + final String LSVINTERVALS = "20:40,000,000-41,000,000"; + final String NA12891_CALLS = comparisonDataLocation + "Unvalidated/mtDNA/NA12891.snp.vcf"; + final String NA12878_WG_CALLS = comparisonDataLocation + "Unvalidated/NA12878/CEUTrio.HiSeq.WGS.b37_decoy.recal.ts_95.snp_indel_combined.vcf"; + final String LSV_ALLELES = validationDataLocation + "ALL.chr20_40m_41m.largeScaleValidationSites.vcf"; + private void PC_MT_Test(String bam, String args, String name, String md5) { + final String base = String.format("-T UnifiedGenotyper -R %s -I %s -L %s --reference_sample_calls %s -refsample %s -glm POOLSNP -ignoreLane -pnrm POOL", + REF, bam, MTINTERVALS, REFSAMPLE_MT_CALLS, REFSAMPLE_NAME) + " --no_cmdline_in_header -o %s"; + final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); + executeTest("testPoolCaller:"+name+" args=" + args, spec); + } + + private void PC_LSV_Test(String args, String name, String model, String md5) { + final String base = String.format("-T UnifiedGenotyper -R %s -I %s -L %s --reference_sample_calls %s -refsample %s -glm %s -ignoreLane -pnrm POOL", + REF, LSV_BAM, LSVINTERVALS, NA12878_WG_CALLS, REFSAMPLE_NAME, model) + " --no_cmdline_in_header -o %s"; + final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); + executeTest("testPoolCaller:"+name+" args=" + args, spec); + } + + @Test + public void testBOTH_GGA_Pools() { + PC_LSV_Test(String.format(" -maxAlleles 2 -ploidy 24 -gt_mode GENOTYPE_GIVEN_ALLELES -alleles %s",LSV_ALLELES),"LSV_BOTH_GGA","POOLBOTH","36b8db57f65be1cc3d2d9d7f9f3f26e4"); + } + + @Test + public void testINDEL_GGA_Pools() { + PC_LSV_Test(String.format(" -maxAlleles 1 -ploidy 24 -gt_mode GENOTYPE_GIVEN_ALLELES -alleles %s",LSV_ALLELES),"LSV_BOTH_GGA","POOLINDEL","d1339990291648495bfcf4404f051478"); + } + + @Test + public void testMT_SNP_DISCOVERY_sp4() { + PC_MT_Test(CEUTRIO_BAM, " -maxAlleles 1 -ploidy 8", "MT_SNP_DISCOVERY_sp4","fa5ee7c957c473a80f3a7f3c35dc80b5"); + } + + @Test + public void testMT_SNP_GGA_sp10() { + + PC_MT_Test(CEUTRIO_BAM, String.format(" -maxAlleles 1 -ploidy 20 -gt_mode GENOTYPE_GIVEN_ALLELES -alleles %s",NA12891_CALLS), "MT_SNP_GGA_sp10", "6907c8617d49bb57b33f8704ce7f0323"); + } + +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypeLikelihoodsUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypeLikelihoodsUnitTest.java new file mode 100644 index 000000000..35a1bb043 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/PoolGenotypeLikelihoodsUnitTest.java @@ -0,0 +1,502 @@ +/* + * Copyright (c) 2010. + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import net.sf.samtools.SAMUtils; +import org.apache.log4j.Logger; +import org.broadinstitute.sting.gatk.contexts.AlignmentContext; +import org.broadinstitute.sting.gatk.walkers.Walker; +import org.broadinstitute.sting.utils.BaseUtils; +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.variantcontext.*; +import org.testng.Assert; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.PrintStream; +import java.util.*; + + +public class PoolGenotypeLikelihoodsUnitTest { + + final UnifiedArgumentCollection UAC = new UnifiedArgumentCollection(); + final Logger logger = Logger.getLogger(Walker.class); + private static final boolean VERBOSE = false; + private static final boolean SIMULATE_NOISY_PILEUP = false; + private static final int NUM_SIMULATED_OBS = 10; + + @Test + public void testStoringLikelihoodElements() { + + + // basic test storing a given PL vector in a PoolGenotypeLikelihoods object and then retrieving it back + + int ploidy = 20; + int numAlleles = 4; + int res = GenotypeLikelihoods.numLikelihoods(numAlleles, ploidy); + // System.out.format("Alt Alleles: %d, Ploidy: %d, #Likelihoods: %d\n", numAltAlleles, ploidy, res); + + List alleles = new ArrayList(); + alleles.add(Allele.create("T",true)); + alleles.add(Allele.create("C",false)); + alleles.add(Allele.create("A",false)); + alleles.add(Allele.create("G",false)); + + double[] gls = new double[res]; + + for (int k=0; k < gls.length; k++) + gls[k]= (double)k; + + PoolGenotypeLikelihoods gl = new PoolSNPGenotypeLikelihoods(alleles, gls,ploidy, null, false,true); + double[] glnew = gl.getLikelihoods(); + + Assert.assertEquals(gls, glnew); + } + + @Test + public void testElementStorageCache() { + // compare cached element storage with compuationally hard-coded iterative computation + + for (int ploidy = 2; ploidy < 10; ploidy++) { + for (int nAlleles = 2; nAlleles < 10; nAlleles++) + Assert.assertEquals(PoolGenotypeLikelihoods.getNumLikelihoodElements(nAlleles,ploidy), + GenotypeLikelihoods.numLikelihoods(nAlleles, ploidy)); + } + + } + + @Test + public void testVectorToLinearIndex() { + + // create iterator, compare linear index given by iterator with closed form function + int numAlleles = 4; + int ploidy = 2; + PoolGenotypeLikelihoods.SumIterator iterator = new PoolGenotypeLikelihoods.SumIterator(numAlleles, ploidy); + + while(iterator.hasNext()) { + System.out.format("\n%d:",iterator.getLinearIndex()); + int[] a = iterator.getCurrentVector(); + for (int aa: a) + System.out.format("%d ",aa); + + + int computedIdx = PoolGenotypeLikelihoods.getLinearIndex(a, numAlleles, ploidy); + System.out.format("Computed idx = %d\n",computedIdx); + iterator.next(); + } + + } + @Test + public void testSubsetToAlleles() { + + int ploidy = 2; + int numAlleles = 4; + int res = GenotypeLikelihoods.numLikelihoods(numAlleles, ploidy); + // System.out.format("Alt Alleles: %d, Ploidy: %d, #Likelihoods: %d\n", numAltAlleles, ploidy, res); + + List originalAlleles = new ArrayList(); + originalAlleles.add(Allele.create("T",true)); + originalAlleles.add(Allele.create("C",false)); + originalAlleles.add(Allele.create("A",false)); + originalAlleles.add(Allele.create("G",false)); + + double[] oldLikelihoods = new double[res]; + + for (int k=0; k < oldLikelihoods.length; k++) + oldLikelihoods[k]= (double)k; + + List allelesToSubset = new ArrayList(); + allelesToSubset.add(Allele.create("A",false)); + allelesToSubset.add(Allele.create("C",false)); + + double[] newGLs = PoolGenotypeLikelihoods.subsetToAlleles(oldLikelihoods, ploidy, + originalAlleles, allelesToSubset); + + + /* + For P=2, N=4, default iteration order: + 0:2 0 0 0 + 1:1 1 0 0 + 2:0 2 0 0 + 3:1 0 1 0 + 4:0 1 1 0 + 5:0 0 2 0 + 6:1 0 0 1 + 7:0 1 0 1 + 8:0 0 1 1 + 9:0 0 0 2 + + For P=2,N=2, iteration order is: + 0:2 0 + 1:1 1 + 2:0 2 + + From first list, if we're extracting alleles 2 and 1, we need all elements that have zero at positions 0 and 3. + These are only elements {2,4,5}. Since test is flipping alleles 2 and 1, order is reversed. + */ + Assert.assertEquals(newGLs,new double[]{5.0,4.0,2.0}); + } + @Test + public void testIndexIterator() { + int[] seed = new int[]{1,2,3,4}; + PoolGenotypeLikelihoods.SumIterator iterator = runIterator(seed,-1); + // Assert.assertTrue(compareIntArrays(iterator.getCurrentVector(), seed)); + Assert.assertEquals(iterator.getLinearIndex(),prod(seed)-1); + + seed = new int[]{1,0,1,1}; + iterator = runIterator(seed,-1); + // Assert.assertTrue(compareIntArrays(iterator.getCurrentVector(), seed)); + Assert.assertEquals(iterator.getLinearIndex(),prod(seed)-1); + + seed = new int[]{5}; + iterator = runIterator(seed,-1); + // Assert.assertTrue(compareIntArrays(iterator.getCurrentVector(), seed)); + Assert.assertEquals(iterator.getLinearIndex(),prod(seed)-1); + + // Diploid, # alleles = 4 + seed = new int[]{2,2,2,2}; + iterator = runIterator(seed,2); + // Assert.assertTrue(compareIntArrays(iterator.getCurrentVector(), seed)); + Assert.assertEquals(iterator.getLinearIndex(),9); + + // Diploid, # alleles = 2 + seed = new int[]{2,2}; + iterator = runIterator(seed,2); + // Assert.assertTrue(compareIntArrays(iterator.getCurrentVector(), seed)); + Assert.assertEquals(iterator.getLinearIndex(),2); + + // Diploid, # alleles = 3 + seed = new int[]{2,2,2}; + iterator = runIterator(seed,2); + // Assert.assertTrue(compareIntArrays(iterator.getCurrentVector(), seed)); + Assert.assertEquals(iterator.getLinearIndex(),5); + + // Triploid, # alleles = 2 + seed = new int[]{3,3}; + iterator = runIterator(seed,3); + // Assert.assertTrue(compareIntArrays(iterator.getCurrentVector(), seed)); + Assert.assertEquals(iterator.getLinearIndex(),3); + // Triploid, # alleles = 3 + seed = new int[]{3,3,3}; + iterator = runIterator(seed,3); + // Assert.assertTrue(compareIntArrays(iterator.getCurrentVector(), seed)); + Assert.assertEquals(iterator.getLinearIndex(),9); + + // Triploid, # alleles = 4 + seed = new int[]{3,3,3,3}; + iterator = runIterator(seed,3); + // Assert.assertTrue(compareIntArrays(iterator.getCurrentVector(), seed)); + Assert.assertEquals(iterator.getLinearIndex(),19); + + // 8-ploid, # alleles = 6 + seed = new int[]{8,8,8,8,8,8}; + iterator = runIterator(seed,8); + // Assert.assertTrue(compareIntArrays(iterator.getCurrentVector(), seed)); + Assert.assertEquals(iterator.getLinearIndex(),1286); + + + } + + private PoolGenotypeLikelihoods.SumIterator runIterator(int[] seed, int restrictSumTo) { + PoolGenotypeLikelihoods.SumIterator iterator = new PoolGenotypeLikelihoods.SumIterator(seed, restrictSumTo); + + while(iterator.hasNext()) { + int[] a = iterator.getCurrentVector(); + int idx = PoolGenotypeLikelihoods.getLinearIndex(a, a.length, restrictSumTo); + if (VERBOSE) { + System.out.format("%d:",iterator.getLinearIndex()); + for (int i=0; i < seed.length; i++) + System.out.format("%d ",a[i]); + System.out.format(" LI:%d\n", idx); + } + iterator.next(); + } + + return iterator; + + } + + private static int prod(int[] x) { + int prod = 1; + for (int xx : x) { + prod *= (1+xx); + } + return prod; + } + + @Test + public void testErrorModel() { + final ArtificialReadPileupTestProvider refPileupTestProvider = new ArtificialReadPileupTestProvider(1,"ref"); + final byte minQ = 5; + final byte maxQ = 40; + final byte refByte = refPileupTestProvider.getRefByte(); + final byte altByte = refByte == (byte)'T'? (byte) 'C': (byte)'T'; + final String refSampleName = refPileupTestProvider.getSampleNames().get(0); + final List trueAlleles = new ArrayList(); + trueAlleles.add(Allele.create(refByte, true)); + + final VariantContext refVC = new VariantContextBuilder("test","chr1",5, 5, + trueAlleles).genotypes(GenotypeBuilder.create(refSampleName, trueAlleles)).make(); + final int[] matchArray = {95, 995, 9995, 10000}; + final int[] mismatchArray = {1,5,10,20}; + if (VERBOSE) System.out.println("Running SNP error model test"); + + for (int matches: matchArray) { + for (int mismatches: mismatchArray) { + // get artificial alignment context for ref sample - no noise + Map refContext = refPileupTestProvider.getAlignmentContextFromAlleles(0, new String(new byte[]{altByte}), new int[]{matches, mismatches}, false, 30); + final ReadBackedPileup refPileup = refContext.get(refSampleName).getBasePileup(); + final ErrorModel emodel = new ErrorModel(minQ,maxQ, (byte)20, refPileup, refVC, 0.0); + final double[] errorVec = emodel.getErrorModelVector().getProbabilityVector(); + + final double mlEst = -10.0*Math.log10((double)mismatches/(double)(matches+mismatches)); + final int peakIdx = (int)Math.round(mlEst); + if (VERBOSE) System.out.format("Matches:%d Mismatches:%d maxV:%d peakIdx:%d\n",matches, mismatches, MathUtils.maxElementIndex(errorVec),peakIdx); + Assert.assertEquals(MathUtils.maxElementIndex(errorVec),peakIdx); + + } + } + + + } + + @Test + public void testIndelErrorModel() { + final ArtificialReadPileupTestProvider refPileupTestProvider = new ArtificialReadPileupTestProvider(1,"ref"); + final byte minQ = 5; + final byte maxQ = 40; + final byte refByte = refPileupTestProvider.getRefByte(); + final String altBases = "TCA"; + final String refSampleName = refPileupTestProvider.getSampleNames().get(0); + final List trueAlleles = new ArrayList(); + trueAlleles.add(Allele.create(Allele.NULL_ALLELE_STRING, true)); + trueAlleles.add(Allele.create("TC", false)); + + final String fw = new String(refPileupTestProvider.getReferenceContext().getForwardBases()); + final VariantContext refInsertionVC = new VariantContextBuilder("test","chr1",refPileupTestProvider.getReferenceContext().getLocus().getStart(), + refPileupTestProvider.getReferenceContext().getLocus().getStart(), trueAlleles). + genotypes(GenotypeBuilder.create(refSampleName, trueAlleles)).referenceBaseForIndel(refByte).make(); + + + final int[] matchArray = {95, 995, 9995, 10000}; + final int[] mismatchArray = {1,5,10,20}; + + if (VERBOSE) System.out.println("Running indel error model test"); + for (int matches: matchArray) { + for (int mismatches: mismatchArray) { + // get artificial alignment context for ref sample - no noise + // CASE 1: Test HET insertion + // Ref sample has TC insertion but pileup will have TCA inserted instead to test mismatches + Map refContext = refPileupTestProvider.getAlignmentContextFromAlleles(altBases.length(), altBases, new int[]{matches, mismatches}, false, 30); + final ReadBackedPileup refPileup = refContext.get(refSampleName).getBasePileup(); + final ErrorModel emodel = new ErrorModel(minQ,maxQ, (byte)20, refPileup, refInsertionVC, 0.0); + final double[] errorVec = emodel.getErrorModelVector().getProbabilityVector(); + + final double mlEst = -10.0*Math.log10((double)mismatches/(double)(matches+mismatches)); + final int peakIdx = (int)Math.round(mlEst); + if (VERBOSE) System.out.format("Matches:%d Mismatches:%d peakIdx:%d\n",matches, mismatches, peakIdx); + Assert.assertEquals(MathUtils.maxElementIndex(errorVec),peakIdx); + + // CASE 2: Test HET deletion + + } + } + + // create deletion VC + final int delLength = 4; + final List delAlleles = new ArrayList(); + delAlleles.add(Allele.create(fw.substring(1,delLength+1), true)); + delAlleles.add(Allele.create(Allele.NULL_ALLELE_STRING, false)); + + final VariantContext refDeletionVC = new VariantContextBuilder("test","chr1",refPileupTestProvider.getReferenceContext().getLocus().getStart(), + refPileupTestProvider.getReferenceContext().getLocus().getStart()+delLength, delAlleles). + genotypes(GenotypeBuilder.create(refSampleName, delAlleles)).referenceBaseForIndel(refByte).make(); + + for (int matches: matchArray) { + for (int mismatches: mismatchArray) { + // get artificial alignment context for ref sample - no noise + // CASE 1: Test HET deletion + // Ref sample has 4bp deletion but pileup will have 3 bp deletion instead to test mismatches + Map refContext = refPileupTestProvider.getAlignmentContextFromAlleles(-delLength+1, altBases, new int[]{matches, mismatches}, false, 30); + final ReadBackedPileup refPileup = refContext.get(refSampleName).getBasePileup(); + final ErrorModel emodel = new ErrorModel(minQ,maxQ, (byte)20, refPileup, refDeletionVC, 0.0); + final double[] errorVec = emodel.getErrorModelVector().getProbabilityVector(); + + final double mlEst = -10.0*Math.log10((double)mismatches/(double)(matches+mismatches)); + final int peakIdx = (int)Math.round(mlEst); + if (VERBOSE) System.out.format("Matches:%d Mismatches:%d peakIdx:%d\n",matches, mismatches, peakIdx); + Assert.assertEquals(MathUtils.maxElementIndex(errorVec),peakIdx); + + // CASE 2: Test HET deletion + + } + } + + } + + @Test + public void testAddPileupToPoolGL() { + + // dummy error model - Q=infinity FAPP so that there's no source of uncertainty + final double[] emv = new double[SAMUtils.MAX_PHRED_SCORE+1]; + + // error rate for noisy tests + final int PHRED_SITE_ERROR_RATE = 20; + + Arrays.fill(emv, Double.NEGATIVE_INFINITY); + emv[SAMUtils.MAX_PHRED_SCORE] = 0; + + final int numSamples = 1; + + // have a high quality site say Q40 site, and create artificial pileups for one single sample, at coverage N, with given + // true pool AC = x. + + final ArtificialReadPileupTestProvider readPileupTestProvider = new ArtificialReadPileupTestProvider(numSamples,"sample", (byte)SAMUtils.MAX_PHRED_SCORE); + final ErrorModel noiselessErrorModel = new ErrorModel(emv); + + final double[] emverr = new double[SAMUtils.MAX_PHRED_SCORE+1]; + Arrays.fill(emverr, Double.NEGATIVE_INFINITY); + emverr[PHRED_SITE_ERROR_RATE] = 0; + final ErrorModel Q30ErrorModel = new ErrorModel(emverr); + + + final int eventLength = 0; // test snp only + final byte refByte = readPileupTestProvider.getRefByte(); + final byte altByte = refByte == (byte)'T'? (byte) 'C': (byte)'T'; + + final int refIdx = BaseUtils.simpleBaseToBaseIndex(refByte); + final int altIdx = BaseUtils.simpleBaseToBaseIndex(altByte); + + final List allAlleles = new ArrayList(); // this contains only ref Allele up to now + final Set laneIDs = new TreeSet(); + laneIDs.add(GenotypeLikelihoodsCalculationModel.DUMMY_LANE); + + final HashMap noiselessErrorModels = new HashMap(); + + // build per-lane error model for all lanes present in ref sample + for (String laneID : laneIDs) + noiselessErrorModels.put(laneID, noiselessErrorModel); + + final HashMap noisyErrorModels = new HashMap(); + + // build per-lane error model for all lanes present in ref sample + for (String laneID : laneIDs) + noisyErrorModels.put(laneID, Q30ErrorModel); + + for (byte b: BaseUtils.BASES) { + if (refByte == b) + allAlleles.add(Allele.create(b,true)); + else + allAlleles.add(Allele.create(b, false)); + } + + PrintStream out = null; + if (SIMULATE_NOISY_PILEUP) { + try { + out = new PrintStream(new File("/humgen/gsa-scr1/delangel/GATK/Sting_unstable_mac/GLUnitTest.table")); + // out = new PrintStream(new File("/Users/delangel/GATK/Sting_unstable/GLUnitTest.table")); + } + catch (Exception e) {} + // write header + out.format("Depth\tPoolPloidy\tACTrue\tACEst\tREF\tALTTrue\tALTEst\n"); + } + final int[] depthVector = {1000,10000}; + //final double[] alleleFrequencyVector = {0.01,0.1,0.5,1.0}; + final int[] spVector = {10,100}; + //final int[] spVector = {1}; + for (int depth : depthVector) { + for (int nSamplesPerPool : spVector) { + final int ploidy = 2*nSamplesPerPool; + for (int ac =2; ac <=ploidy; ac++) { + + // simulate pileup with given AC and depth + int altDepth = (int)Math.round( (double)ac/(double)ploidy * (double)depth); + final int[] numReadsPerAllele = {depth-altDepth,altDepth}; + final Map alignmentContextMap = + readPileupTestProvider.getAlignmentContextFromAlleles(eventLength, new String(new byte[]{altByte}), numReadsPerAllele); + + // get now likelihoods for this + + final PoolSNPGenotypeLikelihoods GL = new PoolSNPGenotypeLikelihoods(allAlleles, null, nSamplesPerPool*2, noiselessErrorModels, false, true); + final int nGoodBases = GL.add(alignmentContextMap.get("sample0000").getBasePileup(), true, false, UAC.MIN_BASE_QUALTY_SCORE); + if (VERBOSE) { + System.out.format("Depth:%d, AC:%d, altDepth:%d, samplesPerPool:%d\nGLs:", depth,ac,altDepth, nSamplesPerPool); + System.out.println(GL.toString()); + } + Assert.assertEquals(nGoodBases, depth); + Pair mlPair = GL.getMostLikelyACCount(); + + // Most likely element has to be conformation REF = nSamples-AC,ALT = AC + if (ac == 0) { + Assert.assertEquals(mlPair.first[refIdx],ploidy); + } else { + Assert.assertEquals(mlPair.first[altIdx],ac); + Assert.assertEquals(mlPair.first[refIdx],ploidy-ac); + } + + + // simulate now pileup with base error rate + if (SIMULATE_NOISY_PILEUP) { + System.out.format("Depth:%d, AC:%d, altDepth:%d, samplesPerPool:%d\n", depth,ac,altDepth, nSamplesPerPool); + + for (int k=0; k < NUM_SIMULATED_OBS; k++) { + final Map noisyAlignmentContextMap = + readPileupTestProvider.getAlignmentContextFromAlleles(eventLength, new String(new byte[]{altByte}), numReadsPerAllele, + true, PHRED_SITE_ERROR_RATE); + + // get now likelihoods for this + + final PoolSNPGenotypeLikelihoods noisyGL = new PoolSNPGenotypeLikelihoods(allAlleles, null, nSamplesPerPool*2, noisyErrorModels, false,true); + noisyGL.add(noisyAlignmentContextMap.get("sample0000").getBasePileup(), true, false, UAC.MIN_BASE_QUALTY_SCORE); + mlPair = noisyGL.getMostLikelyACCount(); + + // Most likely element has to be conformation REF = nSamples-AC,ALT = AC + int acEst; + if (ac == 0) { + acEst = mlPair.first[refIdx]; + } else { + acEst = mlPair.first[altIdx]; + } + byte altEst = BaseUtils.baseIndexToSimpleBase(MathUtils.maxElementIndex(mlPair.first)); + out.format("%d\t%d\t%d\t%d\t%c\t%c\t%c\n",depth, ploidy, ac, acEst, refByte, altByte, altEst); + + } + } + } + } + + + } + if (SIMULATE_NOISY_PILEUP) + out.close(); + + + } + + + +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngineUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngineUnitTest.java new file mode 100644 index 000000000..04bb3a753 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngineUnitTest.java @@ -0,0 +1,412 @@ +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +/** + * Created by IntelliJ IDEA. + * User: rpoplin + * Date: 3/15/12 + */ + +import net.sf.picard.reference.ReferenceSequenceFile; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.*; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; +import org.broadinstitute.sting.utils.variantcontext.VariantContextBuilder; +import org.testng.Assert; +import org.testng.annotations.BeforeClass; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.FileNotFoundException; +import java.util.*; + +/** + * Unit tests for GenotypingEngine + */ +public class GenotypingEngineUnitTest extends BaseTest { + + private static ReferenceSequenceFile seq; + private GenomeLocParser genomeLocParser; + + @BeforeClass + public void init() throws FileNotFoundException { + // sequence + seq = new CachingIndexedFastaSequenceFile(new File(b37KGReference)); + genomeLocParser = new GenomeLocParser(seq); + } + + @Test + public void testFindHomVarEventAllelesInSample() { + final List eventAlleles = new ArrayList(); + eventAlleles.add( Allele.create("A", true) ); + eventAlleles.add( Allele.create("C", false) ); + final List haplotypeAlleles = new ArrayList(); + haplotypeAlleles.add( Allele.create("AATA", true) ); + haplotypeAlleles.add( Allele.create("AACA", false) ); + haplotypeAlleles.add( Allele.create("CATA", false) ); + haplotypeAlleles.add( Allele.create("CACA", false) ); + final ArrayList haplotypes = new ArrayList(); + haplotypes.add(new Haplotype("AATA".getBytes())); + haplotypes.add(new Haplotype("AACA".getBytes())); + haplotypes.add(new Haplotype("CATA".getBytes())); + haplotypes.add(new Haplotype("CACA".getBytes())); + final List haplotypeAllelesForSample = new ArrayList(); + haplotypeAllelesForSample.add( Allele.create("CATA", false) ); + haplotypeAllelesForSample.add( Allele.create("CACA", false) ); + final ArrayList> alleleMapper = new ArrayList>(); + ArrayList Aallele = new ArrayList(); + Aallele.add(haplotypes.get(0)); + Aallele.add(haplotypes.get(1)); + ArrayList Callele = new ArrayList(); + Callele.add(haplotypes.get(2)); + Callele.add(haplotypes.get(3)); + alleleMapper.add(Aallele); + alleleMapper.add(Callele); + final List eventAllelesForSample = new ArrayList(); + eventAllelesForSample.add( Allele.create("C", false) ); + eventAllelesForSample.add( Allele.create("C", false) ); + + if(!compareAlleleLists(eventAllelesForSample, GenotypingEngine.findEventAllelesInSample(eventAlleles, haplotypeAlleles, haplotypeAllelesForSample, alleleMapper, haplotypes))) { + logger.warn("calc alleles = " + GenotypingEngine.findEventAllelesInSample(eventAlleles, haplotypeAlleles, haplotypeAllelesForSample, alleleMapper, haplotypes)); + logger.warn("expected alleles = " + eventAllelesForSample); + } + Assert.assertTrue(compareAlleleLists(eventAllelesForSample, GenotypingEngine.findEventAllelesInSample(eventAlleles, haplotypeAlleles, haplotypeAllelesForSample, alleleMapper, haplotypes))); + } + + @Test + public void testFindHetEventAllelesInSample() { + final List eventAlleles = new ArrayList(); + eventAlleles.add( Allele.create("A", true) ); + eventAlleles.add( Allele.create("C", false) ); + eventAlleles.add( Allele.create("T", false) ); + final List haplotypeAlleles = new ArrayList(); + haplotypeAlleles.add( Allele.create("AATA", true) ); + haplotypeAlleles.add( Allele.create("AACA", false) ); + haplotypeAlleles.add( Allele.create("CATA", false) ); + haplotypeAlleles.add( Allele.create("CACA", false) ); + haplotypeAlleles.add( Allele.create("TACA", false) ); + haplotypeAlleles.add( Allele.create("TTCA", false) ); + haplotypeAlleles.add( Allele.create("TTTA", false) ); + final ArrayList haplotypes = new ArrayList(); + haplotypes.add(new Haplotype("AATA".getBytes())); + haplotypes.add(new Haplotype("AACA".getBytes())); + haplotypes.add(new Haplotype("CATA".getBytes())); + haplotypes.add(new Haplotype("CACA".getBytes())); + haplotypes.add(new Haplotype("TACA".getBytes())); + haplotypes.add(new Haplotype("TTCA".getBytes())); + haplotypes.add(new Haplotype("TTTA".getBytes())); + final List haplotypeAllelesForSample = new ArrayList(); + haplotypeAllelesForSample.add( Allele.create("TTTA", false) ); + haplotypeAllelesForSample.add( Allele.create("AATA", true) ); + final ArrayList> alleleMapper = new ArrayList>(); + ArrayList Aallele = new ArrayList(); + Aallele.add(haplotypes.get(0)); + Aallele.add(haplotypes.get(1)); + ArrayList Callele = new ArrayList(); + Callele.add(haplotypes.get(2)); + Callele.add(haplotypes.get(3)); + ArrayList Tallele = new ArrayList(); + Tallele.add(haplotypes.get(4)); + Tallele.add(haplotypes.get(5)); + Tallele.add(haplotypes.get(6)); + alleleMapper.add(Aallele); + alleleMapper.add(Callele); + alleleMapper.add(Tallele); + final List eventAllelesForSample = new ArrayList(); + eventAllelesForSample.add( Allele.create("A", true) ); + eventAllelesForSample.add( Allele.create("T", false) ); + + if(!compareAlleleLists(eventAllelesForSample, GenotypingEngine.findEventAllelesInSample(eventAlleles, haplotypeAlleles, haplotypeAllelesForSample, alleleMapper, haplotypes))) { + logger.warn("calc alleles = " + GenotypingEngine.findEventAllelesInSample(eventAlleles, haplotypeAlleles, haplotypeAllelesForSample, alleleMapper, haplotypes)); + logger.warn("expected alleles = " + eventAllelesForSample); + } + Assert.assertTrue(compareAlleleLists(eventAllelesForSample, GenotypingEngine.findEventAllelesInSample(eventAlleles, haplotypeAlleles, haplotypeAllelesForSample, alleleMapper, haplotypes))); + } + + private boolean compareAlleleLists(List l1, List l2) { + if( l1.size() != l2.size() ) { + return false; // sanity check + } + + for( int i=0; i < l1.size(); i++ ){ + if ( !l2.contains(l1.get(i)) ) + return false; + } + return true; + } + + + private class BasicGenotypingTestProvider extends TestDataProvider { + byte[] ref; + byte[] hap; + HashMap expected; + GenotypingEngine ge = new GenotypingEngine(false, 0, false); + + public BasicGenotypingTestProvider(String refString, String hapString, HashMap expected) { + super(BasicGenotypingTestProvider.class, String.format("Haplotype to VCF test: ref = %s, alignment = %s", refString,hapString)); + ref = refString.getBytes(); + hap = hapString.getBytes(); + this.expected = expected; + } + + public HashMap calcAlignment() { + final SWPairwiseAlignment alignment = new SWPairwiseAlignment(ref, hap); + return ge.generateVCsFromAlignment( alignment.getAlignmentStart2wrt1(), alignment.getCigar(), ref, hap, genomeLocParser.createGenomeLoc("4",1,1+ref.length), "name", 0); + } + } + + @DataProvider(name = "BasicGenotypingTestProvider") + public Object[][] makeBasicGenotypingTests() { + + for( int contextSize : new int[]{0,1,5,9,24,36} ) { + HashMap map = new HashMap(); + map.put(1 + contextSize, (byte)'M'); + final String context = Utils.dupString('G', contextSize); + new BasicGenotypingTestProvider(context + "AGCTCGCATCGCGAGCATCGACTAGCCGATAG" + context, "CGCTCGCATCGCGAGCATCGACTAGCCGATAG", map); + } + + for( int contextSize : new int[]{0,1,5,9,24,36} ) { + HashMap map = new HashMap(); + map.put(2 + contextSize, (byte)'M'); + map.put(21 + contextSize, (byte)'M'); + final String context = Utils.dupString('G', contextSize); + new BasicGenotypingTestProvider(context + "AGCTCGCATCGCGAGCATCGACTAGCCGATAG", "ATCTCGCATCGCGAGCATCGCCTAGCCGATAG", map); + } + + for( int contextSize : new int[]{0,1,5,9,24,36} ) { + HashMap map = new HashMap(); + map.put(1 + contextSize, (byte)'M'); + map.put(20 + contextSize, (byte)'I'); + final String context = Utils.dupString('G', contextSize); + new BasicGenotypingTestProvider(context + "AGCTCGCATCGCGAGCATCGACTAGCCGATAG" + context, "CGCTCGCATCGCGAGCATCGACACTAGCCGATAG", map); + } + + for( int contextSize : new int[]{0,1,5,9,24,36} ) { + HashMap map = new HashMap(); + map.put(1 + contextSize, (byte)'M'); + map.put(20 + contextSize, (byte)'D'); + final String context = Utils.dupString('G', contextSize); + new BasicGenotypingTestProvider(context + "AGCTCGCATCGCGAGCATCGACTAGCCGATAG" + context, "CGCTCGCATCGCGAGCATCGCTAGCCGATAG", map); + } + + for( int contextSize : new int[]{1,5,9,24,36} ) { + HashMap map = new HashMap(); + map.put(1, (byte)'M'); + map.put(20, (byte)'D'); + final String context = Utils.dupString('G', contextSize); + new BasicGenotypingTestProvider("AGCTCGCATCGCGAGCATCGACTAGCCGATAG" + context, "CGCTCGCATCGCGAGCATCGCTAGCCGATAG", map); + } + + for( int contextSize : new int[]{0,1,5,9,24,36} ) { + HashMap map = new HashMap(); + map.put(2 + contextSize, (byte)'M'); + map.put(20 + contextSize, (byte)'I'); + map.put(30 + contextSize, (byte)'D'); + final String context = Utils.dupString('G', contextSize); + new BasicGenotypingTestProvider(context + "AGCTCGCATCGCGAGCATCGACTAGCCGATAG" + context, "ACCTCGCATCGCGAGCATCGTTACTAGCCGATG", map); + } + + for( int contextSize : new int[]{0,1,5,9,24,36} ) { + HashMap map = new HashMap(); + map.put(1 + contextSize, (byte)'M'); + map.put(20 + contextSize, (byte)'D'); + map.put(28 + contextSize, (byte)'M'); + final String context = Utils.dupString('G', contextSize); + new BasicGenotypingTestProvider(context + "AGCTCGCATCGCGAGCATCGACTAGCCGATAG" + context, "CGCTCGCATCGCGAGCATCGCTAGCCCATAG", map); + } + + return BasicGenotypingTestProvider.getTests(BasicGenotypingTestProvider.class); + } + + @Test(dataProvider = "BasicGenotypingTestProvider", enabled = true) + public void testHaplotypeToVCF(BasicGenotypingTestProvider cfg) { + HashMap calculatedMap = cfg.calcAlignment(); + HashMap expectedMap = cfg.expected; + logger.warn(String.format("Test: %s", cfg.toString())); + if(!compareVCMaps(calculatedMap, expectedMap)) { + logger.warn("calc map = " + calculatedMap); + logger.warn("expected map = " + expectedMap); + } + Assert.assertTrue(compareVCMaps(calculatedMap, expectedMap)); + } + + /** + * Tests that we get the right values from the R^2 calculation + */ + @Test + public void testCalculateR2LD() { + logger.warn("Executing testCalculateR2LD"); + + Assert.assertEquals(GenotypingEngine.calculateR2LD(1,1,1,1), 0.0, 0.00001); + Assert.assertEquals(GenotypingEngine.calculateR2LD(100,100,100,100), 0.0, 0.00001); + Assert.assertEquals(GenotypingEngine.calculateR2LD(1,0,0,1), 1.0, 0.00001); + Assert.assertEquals(GenotypingEngine.calculateR2LD(100,0,0,100), 1.0, 0.00001); + Assert.assertEquals(GenotypingEngine.calculateR2LD(1,2,3,4), (0.1 - 0.12) * (0.1 - 0.12) / (0.3 * 0.7 * 0.4 * 0.6), 0.00001); + } + + @Test + public void testCreateMergedVariantContext() { + logger.warn("Executing testCreateMergedVariantContext"); + + final byte[] ref = "AATTCCGGAATTCCGGAATT".getBytes(); + final GenomeLoc refLoc = genomeLocParser.createGenomeLoc("2", 1700, 1700 + ref.length); + + // SNP + SNP = simple MNP + VariantContext thisVC = new VariantContextBuilder().loc("2", 1703, 1703).alleles("T","G").make(); + VariantContext nextVC = new VariantContextBuilder().loc("2", 1704, 1704).alleles("C","G").make(); + VariantContext truthVC = new VariantContextBuilder().loc("2", 1703, 1704).alleles("TC","GG").source("merged").make(); + VariantContext mergedVC = GenotypingEngine.createMergedVariantContext(thisVC, nextVC, ref, refLoc); + logger.warn(truthVC + " == " + mergedVC); + Assert.assertTrue(truthVC.hasSameAllelesAs(mergedVC)); + Assert.assertEquals(truthVC.getStart(), mergedVC.getStart()); + Assert.assertEquals(truthVC.getEnd(), mergedVC.getEnd()); + Assert.assertEquals(truthVC.hasReferenceBaseForIndel(), mergedVC.hasReferenceBaseForIndel()); + Assert.assertEquals(truthVC.getReferenceBaseForIndel(), mergedVC.getReferenceBaseForIndel()); + + // SNP + ref + SNP = MNP with ref base gap + thisVC = new VariantContextBuilder().loc("2", 1703, 1703).alleles("T","G").make(); + nextVC = new VariantContextBuilder().loc("2", 1705, 1705).alleles("C","G").make(); + truthVC = new VariantContextBuilder().loc("2", 1703, 1705).alleles("TCC","GCG").source("merged").make(); + mergedVC = GenotypingEngine.createMergedVariantContext(thisVC, nextVC, ref, refLoc); + logger.warn(truthVC + " == " + mergedVC); + Assert.assertTrue(truthVC.hasSameAllelesAs(mergedVC)); + Assert.assertEquals(truthVC.getStart(), mergedVC.getStart()); + Assert.assertEquals(truthVC.getEnd(), mergedVC.getEnd()); + Assert.assertEquals(truthVC.hasReferenceBaseForIndel(), mergedVC.hasReferenceBaseForIndel()); + Assert.assertEquals(truthVC.getReferenceBaseForIndel(), mergedVC.getReferenceBaseForIndel()); + + // insertion + SNP + thisVC = new VariantContextBuilder().loc("2", 1703, 1703).alleles("-","AAAAA").referenceBaseForIndel("T").make(); + nextVC = new VariantContextBuilder().loc("2", 1705, 1705).alleles("C","G").make(); + truthVC = new VariantContextBuilder().loc("2", 1703, 1705).alleles("TCC","TAAAAACG").source("merged").make(); + mergedVC = GenotypingEngine.createMergedVariantContext(thisVC, nextVC, ref, refLoc); + logger.warn(truthVC + " == " + mergedVC); + Assert.assertTrue(truthVC.hasSameAllelesAs(mergedVC)); + Assert.assertEquals(truthVC.getStart(), mergedVC.getStart()); + Assert.assertEquals(truthVC.getEnd(), mergedVC.getEnd()); + Assert.assertEquals(truthVC.hasReferenceBaseForIndel(), mergedVC.hasReferenceBaseForIndel()); + Assert.assertEquals(truthVC.getReferenceBaseForIndel(), mergedVC.getReferenceBaseForIndel()); + + // SNP + insertion + thisVC = new VariantContextBuilder().loc("2", 1703, 1703).alleles("T","G").make(); + nextVC = new VariantContextBuilder().loc("2", 1705, 1705).alleles("-","AAAAA").referenceBaseForIndel("C").make(); + truthVC = new VariantContextBuilder().loc("2", 1703, 1705).alleles("TCC","GCCAAAAA").source("merged").make(); + mergedVC = GenotypingEngine.createMergedVariantContext(thisVC, nextVC, ref, refLoc); + logger.warn(truthVC + " == " + mergedVC); + Assert.assertTrue(truthVC.hasSameAllelesAs(mergedVC)); + Assert.assertEquals(truthVC.getStart(), mergedVC.getStart()); + Assert.assertEquals(truthVC.getEnd(), mergedVC.getEnd()); + Assert.assertEquals(truthVC.hasReferenceBaseForIndel(), mergedVC.hasReferenceBaseForIndel()); + Assert.assertEquals(truthVC.getReferenceBaseForIndel(), mergedVC.getReferenceBaseForIndel()); + + // deletion + SNP + thisVC = new VariantContextBuilder().loc("2", 1703, 1704).alleles("C","-").referenceBaseForIndel("T").make(); + nextVC = new VariantContextBuilder().loc("2", 1705, 1705).alleles("C","G").make(); + truthVC = new VariantContextBuilder().loc("2", 1703, 1705).alleles("TCC","TG").source("merged").make(); + mergedVC = GenotypingEngine.createMergedVariantContext(thisVC, nextVC, ref, refLoc); + logger.warn(truthVC + " == " + mergedVC); + Assert.assertTrue(truthVC.hasSameAllelesAs(mergedVC)); + Assert.assertEquals(truthVC.getStart(), mergedVC.getStart()); + Assert.assertEquals(truthVC.getEnd(), mergedVC.getEnd()); + Assert.assertEquals(truthVC.hasReferenceBaseForIndel(), mergedVC.hasReferenceBaseForIndel()); + Assert.assertEquals(truthVC.getReferenceBaseForIndel(), mergedVC.getReferenceBaseForIndel()); + + // SNP + deletion + thisVC = new VariantContextBuilder().loc("2", 1703, 1703).alleles("T","G").make(); + nextVC = new VariantContextBuilder().loc("2", 1705, 1706).alleles("G","-").referenceBaseForIndel("C").make(); + truthVC = new VariantContextBuilder().loc("2", 1703, 1706).alleles("TCCG","GCC").source("merged").make(); + mergedVC = GenotypingEngine.createMergedVariantContext(thisVC, nextVC, ref, refLoc); + logger.warn(truthVC + " == " + mergedVC); + Assert.assertTrue(truthVC.hasSameAllelesAs(mergedVC)); + Assert.assertEquals(truthVC.getStart(), mergedVC.getStart()); + Assert.assertEquals(truthVC.getEnd(), mergedVC.getEnd()); + Assert.assertEquals(truthVC.hasReferenceBaseForIndel(), mergedVC.hasReferenceBaseForIndel()); + Assert.assertEquals(truthVC.getReferenceBaseForIndel(), mergedVC.getReferenceBaseForIndel()); + + // insertion + deletion = MNP + thisVC = new VariantContextBuilder().loc("2", 1703, 1703).alleles("-","A").referenceBaseForIndel("T").make(); + nextVC = new VariantContextBuilder().loc("2", 1705, 1706).alleles("G","-").referenceBaseForIndel("C").make(); + truthVC = new VariantContextBuilder().loc("2", 1704, 1706).alleles("CCG","ACC").source("merged").make(); + mergedVC = GenotypingEngine.createMergedVariantContext(thisVC, nextVC, ref, refLoc); + logger.warn(truthVC + " == " + mergedVC); + Assert.assertTrue(truthVC.hasSameAllelesAs(mergedVC)); + Assert.assertEquals(truthVC.getStart(), mergedVC.getStart()); + Assert.assertEquals(truthVC.getEnd(), mergedVC.getEnd()); + Assert.assertEquals(truthVC.hasReferenceBaseForIndel(), mergedVC.hasReferenceBaseForIndel()); + Assert.assertEquals(truthVC.getReferenceBaseForIndel(), mergedVC.getReferenceBaseForIndel()); + + // insertion + deletion + thisVC = new VariantContextBuilder().loc("2", 1703, 1703).alleles("-","AAAAA").referenceBaseForIndel("T").make(); + nextVC = new VariantContextBuilder().loc("2", 1705, 1706).alleles("G","-").referenceBaseForIndel("C").make(); + truthVC = new VariantContextBuilder().loc("2", 1703, 1706).alleles("TCCG","TAAAAACC").source("merged").make(); + mergedVC = GenotypingEngine.createMergedVariantContext(thisVC, nextVC, ref, refLoc); + logger.warn(truthVC + " == " + mergedVC); + Assert.assertTrue(truthVC.hasSameAllelesAs(mergedVC)); + Assert.assertEquals(truthVC.getStart(), mergedVC.getStart()); + Assert.assertEquals(truthVC.getEnd(), mergedVC.getEnd()); + Assert.assertEquals(truthVC.hasReferenceBaseForIndel(), mergedVC.hasReferenceBaseForIndel()); + Assert.assertEquals(truthVC.getReferenceBaseForIndel(), mergedVC.getReferenceBaseForIndel()); + + // insertion + insertion + thisVC = new VariantContextBuilder().loc("2", 1703, 1703).alleles("-","A").referenceBaseForIndel("T").make(); + nextVC = new VariantContextBuilder().loc("2", 1705, 1705).alleles("-","A").referenceBaseForIndel("C").make(); + truthVC = new VariantContextBuilder().loc("2", 1703, 1705).alleles("TCC","TACCA").source("merged").make(); + mergedVC = GenotypingEngine.createMergedVariantContext(thisVC, nextVC, ref, refLoc); + logger.warn(truthVC + " == " + mergedVC); + Assert.assertTrue(truthVC.hasSameAllelesAs(mergedVC)); + Assert.assertEquals(truthVC.getStart(), mergedVC.getStart()); + Assert.assertEquals(truthVC.getEnd(), mergedVC.getEnd()); + Assert.assertEquals(truthVC.hasReferenceBaseForIndel(), mergedVC.hasReferenceBaseForIndel()); + Assert.assertEquals(truthVC.getReferenceBaseForIndel(), mergedVC.getReferenceBaseForIndel()); + + // deletion + deletion + thisVC = new VariantContextBuilder().loc("2", 1701, 1702).alleles("T","-").referenceBaseForIndel("A").make(); + nextVC = new VariantContextBuilder().loc("2", 1705, 1706).alleles("G","-").referenceBaseForIndel("C").make(); + truthVC = new VariantContextBuilder().loc("2", 1701, 1706).alleles("ATTCCG","ATCC").source("merged").make(); + mergedVC = GenotypingEngine.createMergedVariantContext(thisVC, nextVC, ref, refLoc); + logger.warn(truthVC + " == " + mergedVC); + Assert.assertTrue(truthVC.hasSameAllelesAs(mergedVC)); + Assert.assertEquals(truthVC.getStart(), mergedVC.getStart()); + Assert.assertEquals(truthVC.getEnd(), mergedVC.getEnd()); + Assert.assertEquals(truthVC.hasReferenceBaseForIndel(), mergedVC.hasReferenceBaseForIndel()); + Assert.assertEquals(truthVC.getReferenceBaseForIndel(), mergedVC.getReferenceBaseForIndel()); + + // complex + complex + thisVC = new VariantContextBuilder().loc("2", 1703, 1704).alleles("TC","AAA").make(); + nextVC = new VariantContextBuilder().loc("2", 1706, 1707).alleles("GG","AC").make(); + truthVC = new VariantContextBuilder().loc("2", 1703, 1707).alleles("TCCGG","AAACAC").source("merged").make(); + mergedVC = GenotypingEngine.createMergedVariantContext(thisVC, nextVC, ref, refLoc); + logger.warn(truthVC + " == " + mergedVC); + Assert.assertTrue(truthVC.hasSameAllelesAs(mergedVC)); + Assert.assertEquals(truthVC.getStart(), mergedVC.getStart()); + Assert.assertEquals(truthVC.getEnd(), mergedVC.getEnd()); + Assert.assertEquals(truthVC.hasReferenceBaseForIndel(), mergedVC.hasReferenceBaseForIndel()); + Assert.assertEquals(truthVC.getReferenceBaseForIndel(), mergedVC.getReferenceBaseForIndel()); + } + + /** + * Private function to compare HashMap of VCs, it only checks the types and start locations of the VariantContext + */ + private boolean compareVCMaps(HashMap calc, HashMap expected) { + if( !calc.keySet().equals(expected.keySet()) ) { return false; } // sanity check + for( Integer loc : expected.keySet() ) { + Byte type = expected.get(loc); + switch( type ) { + case 'I': + if( !calc.get(loc).isSimpleInsertion() ) { return false; } + break; + case 'D': + if( !calc.get(loc).isSimpleDeletion() ) { return false; } + break; + case 'M': + if( !(calc.get(loc).isMNP() || calc.get(loc).isSNP()) ) { return false; } + break; + default: + return false; + } + } + return true; + } +} \ No newline at end of file diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java new file mode 100644 index 000000000..a87703423 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java @@ -0,0 +1,48 @@ +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import org.broadinstitute.sting.WalkerTest; +import org.testng.annotations.Test; + +import java.util.Arrays; + +public class HaplotypeCallerIntegrationTest extends WalkerTest { + final static String REF = b37KGReference; + final String NA12878_BAM = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.bam"; + final String CEUTRIO_BAM = validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam"; + final String INTERVALS_FILE = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.test.intervals"; + //final String RECAL_FILE = validationDataLocation + "NA12878.kmer.8.subset.recal_data.bqsr"; + + private void HCTest(String bam, String args, String md5) { + final String base = String.format("-T HaplotypeCaller -R %s -I %s -L %s", REF, bam, INTERVALS_FILE) + " --no_cmdline_in_header -o %s -minPruning 3"; + final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); + executeTest("testHaplotypeCaller: args=" + args, spec); + } + + @Test + public void testHaplotypeCallerMultiSample() { + HCTest(CEUTRIO_BAM, "", "7b4e76934e0c911220b4e7da8776ab2b"); + } + + @Test + public void testHaplotypeCallerSingleSample() { + HCTest(NA12878_BAM, "", "fcf0cea98a571d5e2d1dfa8b5edc599d"); + } + + @Test + public void testHaplotypeCallerMultiSampleGGA() { + HCTest(CEUTRIO_BAM, "-gt_mode GENOTYPE_GIVEN_ALLELES -alleles " + validationDataLocation + "combined.phase1.chr20.raw.indels.sites.vcf", "ff370c42c8b09a29f1aeff5ac57c7ea6"); + } + + private void HCTestComplexVariants(String bam, String args, String md5) { + final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " -L 20:10431524-10431924 -L 20:10723661-10724061 -L 20:10903555-10903955 --no_cmdline_in_header -o %s -minPruning 3"; + final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); + executeTest("testHaplotypeCallerComplexVariants: args=" + args, spec); + } + + @Test + public void testHaplotypeCallerMultiSampleComplex() { + HCTestComplexVariants(CEUTRIO_BAM, "", "6f9fda3ea82c5696bed1d48ee90cd76b"); + } + +} + diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LikelihoodCalculationEngineUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LikelihoodCalculationEngineUnitTest.java new file mode 100644 index 000000000..185641140 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LikelihoodCalculationEngineUnitTest.java @@ -0,0 +1,173 @@ +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +/** + * Created by IntelliJ IDEA. + * User: rpoplin + * Date: 3/14/12 + */ + +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.Haplotype; +import org.broadinstitute.sting.utils.MathUtils; +import org.testng.Assert; +import org.testng.annotations.BeforeClass; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.*; + +/** + * Unit tests for LikelihoodCalculationEngine + */ +public class LikelihoodCalculationEngineUnitTest extends BaseTest { + + @Test + public void testNormalizeDiploidLikelihoodMatrixFromLog10() { + double[][] likelihoodMatrix = { + {-90.2, 0, 0}, + {-190.1, -2.1, 0}, + {-7.0, -17.5, -35.9} + }; + double[][] normalizedMatrix = { + {-88.1, 0, 0}, + {-188.0, 0.0, 0}, + {-4.9, -15.4, -33.8} + }; + + + Assert.assertTrue(compareDoubleArrays(LikelihoodCalculationEngine.normalizeDiploidLikelihoodMatrixFromLog10(likelihoodMatrix), normalizedMatrix)); + + double[][] likelihoodMatrix2 = { + {-90.2, 0, 0, 0}, + {-190.1, -2.1, 0, 0}, + {-7.0, -17.5, -35.9, 0}, + {-7.0, -17.5, -35.9, -1000.0}, + }; + double[][] normalizedMatrix2 = { + {-88.1, 0, 0, 0}, + {-188.0, 0.0, 0, 0}, + {-4.9, -15.4, -33.8, 0}, + {-4.9, -15.4, -33.8, -997.9}, + }; + Assert.assertTrue(compareDoubleArrays(LikelihoodCalculationEngine.normalizeDiploidLikelihoodMatrixFromLog10(likelihoodMatrix2), normalizedMatrix2)); + } + + private class BasicLikelihoodTestProvider extends TestDataProvider { + public Double readLikelihoodForHaplotype1; + public Double readLikelihoodForHaplotype2; + public Double readLikelihoodForHaplotype3; + + public BasicLikelihoodTestProvider(double a, double b) { + super(BasicLikelihoodTestProvider.class, String.format("Diploid haplotype likelihoods for reads %f / %f",a,b)); + readLikelihoodForHaplotype1 = a; + readLikelihoodForHaplotype2 = b; + readLikelihoodForHaplotype3 = null; + } + + public BasicLikelihoodTestProvider(double a, double b, double c) { + super(BasicLikelihoodTestProvider.class, String.format("Diploid haplotype likelihoods for reads %f / %f / %f",a,b,c)); + readLikelihoodForHaplotype1 = a; + readLikelihoodForHaplotype2 = b; + readLikelihoodForHaplotype3 = c; + } + + public double[][] expectedDiploidHaplotypeMatrix() { + if( readLikelihoodForHaplotype3 == null ) { + double maxValue = Math.max(readLikelihoodForHaplotype1,readLikelihoodForHaplotype2); + double[][] normalizedMatrix = { + {readLikelihoodForHaplotype1 - maxValue, Double.NEGATIVE_INFINITY}, + {Math.log10(0.5*Math.pow(10,readLikelihoodForHaplotype1) + 0.5*Math.pow(10,readLikelihoodForHaplotype2)) - maxValue, readLikelihoodForHaplotype2 - maxValue} + }; + return normalizedMatrix; + } else { + double maxValue = MathUtils.max(readLikelihoodForHaplotype1,readLikelihoodForHaplotype2,readLikelihoodForHaplotype3); + double[][] normalizedMatrix = { + {readLikelihoodForHaplotype1 - maxValue, Double.NEGATIVE_INFINITY, Double.NEGATIVE_INFINITY}, + {Math.log10(0.5*Math.pow(10,readLikelihoodForHaplotype1) + 0.5*Math.pow(10,readLikelihoodForHaplotype2)) - maxValue, readLikelihoodForHaplotype2 - maxValue, Double.NEGATIVE_INFINITY}, + {Math.log10(0.5*Math.pow(10,readLikelihoodForHaplotype1) + 0.5*Math.pow(10,readLikelihoodForHaplotype3)) - maxValue, + Math.log10(0.5*Math.pow(10,readLikelihoodForHaplotype2) + 0.5*Math.pow(10,readLikelihoodForHaplotype3)) - maxValue, readLikelihoodForHaplotype3 - maxValue} + }; + return normalizedMatrix; + } + } + + public double[][] calcDiploidHaplotypeMatrix() { + ArrayList haplotypes = new ArrayList(); + for( int iii = 1; iii <= 3; iii++) { + Double readLikelihood = ( iii == 1 ? readLikelihoodForHaplotype1 : ( iii == 2 ? readLikelihoodForHaplotype2 : readLikelihoodForHaplotype3) ); + if( readLikelihood != null ) { + Haplotype haplotype = new Haplotype( (iii == 1 ? "AAAA" : (iii == 2 ? "CCCC" : "TTTT")).getBytes() ); + haplotype.addReadLikelihoods("myTestSample", new double[]{readLikelihood}); + haplotypes.add(haplotype); + } + } + return LikelihoodCalculationEngine.computeDiploidHaplotypeLikelihoods(haplotypes, "myTestSample"); + } + } + + @DataProvider(name = "BasicLikelihoodTestProvider") + public Object[][] makeBasicLikelihoodTests() { + new BasicLikelihoodTestProvider(-1.1, -2.2); + new BasicLikelihoodTestProvider(-2.2, -1.1); + new BasicLikelihoodTestProvider(-1.1, -1.1); + new BasicLikelihoodTestProvider(-9.7, -15.0); + new BasicLikelihoodTestProvider(-1.1, -2000.2); + new BasicLikelihoodTestProvider(-1000.1, -2.2); + new BasicLikelihoodTestProvider(0, 0); + new BasicLikelihoodTestProvider(-1.1, 0); + new BasicLikelihoodTestProvider(0, -2.2); + new BasicLikelihoodTestProvider(-100.1, -200.2); + + new BasicLikelihoodTestProvider(-1.1, -2.2, 0); + new BasicLikelihoodTestProvider(-2.2, -1.1, 0); + new BasicLikelihoodTestProvider(-1.1, -1.1, 0); + new BasicLikelihoodTestProvider(-9.7, -15.0, 0); + new BasicLikelihoodTestProvider(-1.1, -2000.2, 0); + new BasicLikelihoodTestProvider(-1000.1, -2.2, 0); + new BasicLikelihoodTestProvider(0, 0, 0); + new BasicLikelihoodTestProvider(-1.1, 0, 0); + new BasicLikelihoodTestProvider(0, -2.2, 0); + new BasicLikelihoodTestProvider(-100.1, -200.2, 0); + + new BasicLikelihoodTestProvider(-1.1, -2.2, -12.121); + new BasicLikelihoodTestProvider(-2.2, -1.1, -12.121); + new BasicLikelihoodTestProvider(-1.1, -1.1, -12.121); + new BasicLikelihoodTestProvider(-9.7, -15.0, -12.121); + new BasicLikelihoodTestProvider(-1.1, -2000.2, -12.121); + new BasicLikelihoodTestProvider(-1000.1, -2.2, -12.121); + new BasicLikelihoodTestProvider(0, 0, -12.121); + new BasicLikelihoodTestProvider(-1.1, 0, -12.121); + new BasicLikelihoodTestProvider(0, -2.2, -12.121); + new BasicLikelihoodTestProvider(-100.1, -200.2, -12.121); + + return BasicLikelihoodTestProvider.getTests(BasicLikelihoodTestProvider.class); + } + + @Test(dataProvider = "BasicLikelihoodTestProvider", enabled = true) + public void testOneReadWithTwoOrThreeHaplotypes(BasicLikelihoodTestProvider cfg) { + double[][] calculatedMatrix = cfg.calcDiploidHaplotypeMatrix(); + double[][] expectedMatrix = cfg.expectedDiploidHaplotypeMatrix(); + logger.warn(String.format("Test: %s", cfg.toString())); + Assert.assertTrue(compareDoubleArrays(calculatedMatrix, expectedMatrix)); + } + + /** + * Private function to compare 2d arrays + */ + private boolean compareDoubleArrays(double[][] b1, double[][] b2) { + if( b1.length != b2.length ) { + return false; // sanity check + } + + for( int i=0; i < b1.length; i++ ){ + if( b1[i].length != b2[i].length) { + return false; // sanity check + } + for( int j=0; j < b1.length; j++ ){ + if ( MathUtils.compareDoubles(b1[i][j], b2[i][j]) != 0 && !Double.isInfinite(b1[i][j]) && !Double.isInfinite(b2[i][j])) + return false; + } + } + return true; + } +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssemblerUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssemblerUnitTest.java new file mode 100644 index 000000000..4f42d5bc8 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssemblerUnitTest.java @@ -0,0 +1,257 @@ +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +/** + * Created by IntelliJ IDEA. + * User: rpoplin + * Date: 3/27/12 + */ + +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.Haplotype; +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.jgrapht.graph.DefaultDirectedGraph; +import org.testng.Assert; +import org.testng.annotations.BeforeClass; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.FileNotFoundException; +import java.util.*; + +public class SimpleDeBruijnAssemblerUnitTest extends BaseTest { + + + private class MergeNodesWithNoVariationTestProvider extends TestDataProvider { + public byte[] sequence; + public int KMER_LENGTH; + + public MergeNodesWithNoVariationTestProvider(String seq, int kmer) { + super(MergeNodesWithNoVariationTestProvider.class, String.format("Merge nodes with no variation test. kmer = %d, seq = %s", kmer, seq)); + sequence = seq.getBytes(); + KMER_LENGTH = kmer; + } + + public DefaultDirectedGraph expectedGraph() { + DeBruijnVertex v = new DeBruijnVertex(sequence, 0); + DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); + graph.addVertex(v); + return graph; + } + + public DefaultDirectedGraph calcGraph() { + + DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); + final int kmersInSequence = sequence.length - KMER_LENGTH + 1; + for (int i = 0; i < kmersInSequence - 1; i++) { + // get the kmers + final byte[] kmer1 = new byte[KMER_LENGTH]; + System.arraycopy(sequence, i, kmer1, 0, KMER_LENGTH); + final byte[] kmer2 = new byte[KMER_LENGTH]; + System.arraycopy(sequence, i+1, kmer2, 0, KMER_LENGTH); + + SimpleDeBruijnAssembler.addKmersToGraph(graph, kmer1, kmer2, false); + } + SimpleDeBruijnAssembler.mergeNodes(graph); + return graph; + } + } + + @DataProvider(name = "MergeNodesWithNoVariationTestProvider") + public Object[][] makeMergeNodesWithNoVariationTests() { + new MergeNodesWithNoVariationTestProvider("GGTTAACC", 3); + new MergeNodesWithNoVariationTestProvider("GGTTAACC", 4); + new MergeNodesWithNoVariationTestProvider("GGTTAACC", 5); + new MergeNodesWithNoVariationTestProvider("GGTTAACC", 6); + new MergeNodesWithNoVariationTestProvider("GGTTAACC", 7); + new MergeNodesWithNoVariationTestProvider("GGTTAACCATGCAGACGGGAGGCTGAGCGAGAGTTTT", 6); + new MergeNodesWithNoVariationTestProvider("AATACCATTGGAGTTTTTTTCCAGGTTAAGATGGTGCATTGAATCCACCCATCTACTTTTGCTCCTCCCAAAACTCACTAAAACTATTATAAAGGGATTTTGTTTAAAGACACAAACTCATGAGGACAGAGAGAACAGAGTAGACAATAGTGGGGGAAAAATAAGTTGGAAGATAGAAAACAGATGGGTGAGTGGTAATCGACTCAGCAGCCCCAAGAAAGCTGAAACCCAGGGAAAGTTAAGAGTAGCCCTATTTTCATGGCAAAATCCAAGGGGGGGTGGGGAAAGAAAGAAAAACAGAAAAAAAAATGGGAATTGGCAGTCCTAGATATCTCTGGTACTGGGCAAGCCAAAGAATCAGGATAACTGGGTGAAAGGTGATTGGGAAGCAGTTAAAATCTTAGTTCCCCTCTTCCACTCTCCGAGCAGCAGGTTTCTCTCTCTCATCAGGCAGAGGGCTGGAGAT", 66); + new MergeNodesWithNoVariationTestProvider("AATACCATTGGAGTTTTTTTCCAGGTTAAGATGGTGCATTGAATCCACCCATCTACTTTTGCTCCTCCCAAAACTCACTAAAACTATTATAAAGGGATTTTGTTTAAAGACACAAACTCATGAGGACAGAGAGAACAGAGTAGACAATAGTGGGGGAAAAATAAGTTGGAAGATAGAAAACAGATGGGTGAGTGGTAATCGACTCAGCAGCCCCAAGAAAGCTGAAACCCAGGGAAAGTTAAGAGTAGCCCTATTTTCATGGCAAAATCCAAGGGGGGGTGGGGAAAGAAAGAAAAACAGAAAAAAAAATGGGAATTGGCAGTCCTAGATATCTCTGGTACTGGGCAAGCCAAAGAATCAGGATAACTGGGTGAAAGGTGATTGGGAAGCAGTTAAAATCTTAGTTCCCCTCTTCCACTCTCCGAGCAGCAGGTTTCTCTCTCTCATCAGGCAGAGGGCTGGAGAT", 76); + + return MergeNodesWithNoVariationTestProvider.getTests(MergeNodesWithNoVariationTestProvider.class); + } + + @Test(dataProvider = "MergeNodesWithNoVariationTestProvider", enabled = true) + public void testMergeNodesWithNoVariation(MergeNodesWithNoVariationTestProvider cfg) { + logger.warn(String.format("Test: %s", cfg.toString())); + Assert.assertTrue(graphEquals(cfg.calcGraph(), cfg.expectedGraph())); + } + + @Test(enabled = true) + public void testPruneGraph() { + DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); + DefaultDirectedGraph expectedGraph = new DefaultDirectedGraph(DeBruijnEdge.class); + + DeBruijnVertex v = new DeBruijnVertex("ATGG".getBytes(), 0); + DeBruijnVertex v2 = new DeBruijnVertex("ATGGA".getBytes(), 0); + DeBruijnVertex v3 = new DeBruijnVertex("ATGGT".getBytes(), 0); + DeBruijnVertex v4 = new DeBruijnVertex("ATGGG".getBytes(), 0); + DeBruijnVertex v5 = new DeBruijnVertex("ATGGC".getBytes(), 0); + DeBruijnVertex v6 = new DeBruijnVertex("ATGGCCCCCC".getBytes(), 0); + + graph.addVertex(v); + graph.addVertex(v2); + graph.addVertex(v3); + graph.addVertex(v4); + graph.addVertex(v5); + graph.addVertex(v6); + graph.addEdge(v, v2, new DeBruijnEdge(false, 1)); + graph.addEdge(v2, v3, new DeBruijnEdge(false, 3)); + graph.addEdge(v3, v4, new DeBruijnEdge(false, 5)); + graph.addEdge(v4, v5, new DeBruijnEdge(false, 3)); + graph.addEdge(v5, v6, new DeBruijnEdge(false, 2)); + + expectedGraph.addVertex(v2); + expectedGraph.addVertex(v3); + expectedGraph.addVertex(v4); + expectedGraph.addVertex(v5); + expectedGraph.addEdge(v2, v3, new DeBruijnEdge(false, 3)); + expectedGraph.addEdge(v3, v4, new DeBruijnEdge(false, 5)); + expectedGraph.addEdge(v4, v5, new DeBruijnEdge(false, 3)); + + SimpleDeBruijnAssembler.pruneGraph(graph, 2); + + Assert.assertTrue(graphEquals(graph, expectedGraph)); + + graph = new DefaultDirectedGraph(DeBruijnEdge.class); + expectedGraph = new DefaultDirectedGraph(DeBruijnEdge.class); + + graph.addVertex(v); + graph.addVertex(v2); + graph.addVertex(v3); + graph.addVertex(v4); + graph.addVertex(v5); + graph.addVertex(v6); + graph.addEdge(v, v2, new DeBruijnEdge(true, 1)); + graph.addEdge(v2, v3, new DeBruijnEdge(false, 3)); + graph.addEdge(v3, v4, new DeBruijnEdge(false, 5)); + graph.addEdge(v4, v5, new DeBruijnEdge(false, 3)); + + expectedGraph.addVertex(v); + expectedGraph.addVertex(v2); + expectedGraph.addVertex(v3); + expectedGraph.addVertex(v4); + expectedGraph.addVertex(v5); + expectedGraph.addEdge(v, v2, new DeBruijnEdge(true, 1)); + expectedGraph.addEdge(v2, v3, new DeBruijnEdge(false, 3)); + expectedGraph.addEdge(v3, v4, new DeBruijnEdge(false, 5)); + expectedGraph.addEdge(v4, v5, new DeBruijnEdge(false, 3)); + + SimpleDeBruijnAssembler.pruneGraph(graph, 2); + + Assert.assertTrue(graphEquals(graph, expectedGraph)); + } + + @Test(enabled = true) + public void testEliminateNonRefPaths() { + DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); + DefaultDirectedGraph expectedGraph = new DefaultDirectedGraph(DeBruijnEdge.class); + + DeBruijnVertex v = new DeBruijnVertex("ATGG".getBytes(), 0); + DeBruijnVertex v2 = new DeBruijnVertex("ATGGA".getBytes(), 0); + DeBruijnVertex v3 = new DeBruijnVertex("ATGGT".getBytes(), 0); + DeBruijnVertex v4 = new DeBruijnVertex("ATGGG".getBytes(), 0); + DeBruijnVertex v5 = new DeBruijnVertex("ATGGC".getBytes(), 0); + DeBruijnVertex v6 = new DeBruijnVertex("ATGGCCCCCC".getBytes(), 0); + + graph.addVertex(v); + graph.addVertex(v2); + graph.addVertex(v3); + graph.addVertex(v4); + graph.addVertex(v5); + graph.addVertex(v6); + graph.addEdge(v, v2, new DeBruijnEdge(false)); + graph.addEdge(v2, v3, new DeBruijnEdge(true)); + graph.addEdge(v3, v4, new DeBruijnEdge(true)); + graph.addEdge(v4, v5, new DeBruijnEdge(true)); + graph.addEdge(v5, v6, new DeBruijnEdge(false)); + + expectedGraph.addVertex(v2); + expectedGraph.addVertex(v3); + expectedGraph.addVertex(v4); + expectedGraph.addVertex(v5); + expectedGraph.addEdge(v2, v3, new DeBruijnEdge()); + expectedGraph.addEdge(v3, v4, new DeBruijnEdge()); + expectedGraph.addEdge(v4, v5, new DeBruijnEdge()); + + SimpleDeBruijnAssembler.eliminateNonRefPaths(graph); + + Assert.assertTrue(graphEquals(graph, expectedGraph)); + + + + + graph = new DefaultDirectedGraph(DeBruijnEdge.class); + expectedGraph = new DefaultDirectedGraph(DeBruijnEdge.class); + + graph.addVertex(v); + graph.addVertex(v2); + graph.addVertex(v3); + graph.addVertex(v4); + graph.addVertex(v5); + graph.addVertex(v6); + graph.addEdge(v, v2, new DeBruijnEdge(true)); + graph.addEdge(v2, v3, new DeBruijnEdge(true)); + graph.addEdge(v4, v5, new DeBruijnEdge(false)); + graph.addEdge(v5, v6, new DeBruijnEdge(false)); + + expectedGraph.addVertex(v); + expectedGraph.addVertex(v2); + expectedGraph.addVertex(v3); + expectedGraph.addEdge(v, v2, new DeBruijnEdge()); + expectedGraph.addEdge(v2, v3, new DeBruijnEdge()); + + SimpleDeBruijnAssembler.eliminateNonRefPaths(graph); + + Assert.assertTrue(graphEquals(graph, expectedGraph)); + + + + graph = new DefaultDirectedGraph(DeBruijnEdge.class); + expectedGraph = new DefaultDirectedGraph(DeBruijnEdge.class); + + graph.addVertex(v); + graph.addVertex(v2); + graph.addVertex(v3); + graph.addVertex(v4); + graph.addVertex(v5); + graph.addVertex(v6); + graph.addEdge(v, v2, new DeBruijnEdge(true)); + graph.addEdge(v2, v3, new DeBruijnEdge(true)); + graph.addEdge(v4, v5, new DeBruijnEdge(false)); + graph.addEdge(v5, v6, new DeBruijnEdge(false)); + graph.addEdge(v4, v2, new DeBruijnEdge(false)); + + expectedGraph.addVertex(v); + expectedGraph.addVertex(v2); + expectedGraph.addVertex(v3); + expectedGraph.addEdge(v, v2, new DeBruijnEdge()); + expectedGraph.addEdge(v2, v3, new DeBruijnEdge()); + + SimpleDeBruijnAssembler.eliminateNonRefPaths(graph); + + Assert.assertTrue(graphEquals(graph, expectedGraph)); + } + + private boolean graphEquals(DefaultDirectedGraph g1, DefaultDirectedGraph g2) { + if( !(g1.vertexSet().containsAll(g2.vertexSet()) && g2.vertexSet().containsAll(g1.vertexSet())) ) { + return false; + } + for( DeBruijnEdge e1 : g1.edgeSet() ) { + boolean found = false; + for( DeBruijnEdge e2 : g2.edgeSet() ) { + if( e1.equals(g1, e2, g2) ) { found = true; break; } + } + if( !found ) { return false; } + } + for( DeBruijnEdge e2 : g2.edgeSet() ) { + boolean found = false; + for( DeBruijnEdge e1 : g1.edgeSet() ) { + if( e2.equals(g2, e1, g1) ) { found = true; break; } + } + if( !found ) { return false; } + } + return true; + } +} diff --git a/public/R/scripts/org/broadinstitute/sting/analyzecovariates/plot_residualError_OtherCovariate.R b/public/R/scripts/org/broadinstitute/sting/analyzecovariates/plot_residualError_OtherCovariate.R deleted file mode 100644 index 15c6fc8f0..000000000 --- a/public/R/scripts/org/broadinstitute/sting/analyzecovariates/plot_residualError_OtherCovariate.R +++ /dev/null @@ -1,121 +0,0 @@ -#!/bin/env Rscript - -library(tools) - -args <- commandArgs(TRUE) -verbose = TRUE - -input = args[1] -covariateName = args[2] - -outfile = paste(input, ".qual_diff_v_", covariateName, ".pdf", sep="") -pdf(outfile, height=7, width=7) -par(cex=1.1) -c <- read.table(input, header=T) -c <- c[sort.list(c[,1]),] - -# -# Plot residual error as a function of the covariate -# - -d.good <- c[c$nBases >= 1000,] -d.1000 <- c[c$nBases < 1000,] -rmseGood = sqrt( sum(as.numeric((d.good$Qempirical-d.good$Qreported)^2 * d.good$nBases)) / sum(as.numeric(d.good$nBases)) ) # prevent integer overflow with as.numeric, ugh -rmseAll = sqrt( sum(as.numeric((c$Qempirical-c$Qreported)^2 * c$nBases)) / sum(as.numeric(c$nBases)) ) -theTitle = paste("RMSE_good =", round(rmseGood,digits=3), ", RMSE_all =", round(rmseAll,digits=3)) -if( length(d.good$nBases) == length(c$nBases) ) { - theTitle = paste("RMSE =", round(rmseAll,digits=3)) -} -# Don't let residual error go off the edge of the plot -d.good$residualError = d.good$Qempirical-d.good$Qreported -d.good$residualError[which(d.good$residualError > 10)] = 10 -d.good$residualError[which(d.good$residualError < -10)] = -10 -d.1000$residualError = d.1000$Qempirical-d.1000$Qreported -d.1000$residualError[which(d.1000$residualError > 10)] = 10 -d.1000$residualError[which(d.1000$residualError < -10)] = -10 -c$residualError = c$Qempirical-c$Qreported -c$residualError[which(c$residualError > 10)] = 10 -c$residualError[which(c$residualError < -10)] = -10 -pointType = "p" -if( length(c$Covariate) <= 20 ) { - pointType = "o" -} -if( is.numeric(c$Covariate) ) { - plot(d.good$Covariate, d.good$residualError, type=pointType, main=theTitle, ylab="Empirical - Reported Quality", xlab=covariateName, col="blue", pch=20, ylim=c(-10, 10), xlim=c(min(c$Covariate),max(c$Covariate))) - points(d.1000$Covariate, d.1000$residualError, type=pointType, col="cornflowerblue", pch=20) -} else { # Dinuc (and other non-numeric covariates) are different to make their plots look nice - plot(c$Covariate, c$residualError, type="l", main=theTitle, ylab="Empirical - Reported Quality", xlab=covariateName, col="blue", ylim=c(-10, 10)) - points(d.1000$Covariate, d.1000$residualError, type="l", col="cornflowerblue") -} -dev.off() - -if (exists('compactPDF')) { - compactPDF(outfile) -} - -# -# Plot mean quality versus the covariate -# - -outfile = paste(input, ".reported_qual_v_", covariateName, ".pdf", sep="") -pdf(outfile, height=7, width=7) -par(cex=1.1) -pointType = "p" -if( length(c$Covariate) <= 20 ) { - pointType = "o" -} -theTitle = paste("Quality By", covariateName); -if( is.numeric(c$Covariate) ) { - plot(d.good$Covariate, d.good$Qreported, type=pointType, main=theTitle, ylab="Mean Reported Quality", xlab=covariateName, col="blue", pch=20, ylim=c(0, 40), xlim=c(min(c$Covariate),max(c$Covariate))) - points(d.1000$Covariate, d.1000$Qreported, type=pointType, col="cornflowerblue", pch=20) -} else { # Dinuc (and other non-numeric covariates) are different to make their plots look nice - plot(c$Covariate, c$Qreported, type="l", main=theTitle, ylab="Mean Reported Quality", xlab=covariateName, col="blue", ylim=c(0, 40)) - points(d.1000$Covariate, d.1000$Qreported, type="l", col="cornflowerblue") -} -dev.off() - -if (exists('compactPDF')) { - compactPDF(outfile) -} - -# -# Plot histogram of the covariate -# - -e = d.good -f = d.1000 -outfile = paste(input, ".", covariateName,"_hist.pdf", sep="") -pdf(outfile, height=7, width=7) -hst=subset(data.frame(e$Covariate, e$nBases), e.nBases != 0) -hst2=subset(data.frame(f$Covariate, f$nBases), f.nBases != 0) - -lwdSize=2 -if( length(c$Covariate) <= 20 ) { - lwdSize=7 -} else if( length(c$Covariate) <= 70 ) { - lwdSize=4 -} - -if( is.numeric(c$Covariate) ) { - if( length(hst$e.Covariate) == 0 ) { - plot(hst2$f.Covariate, hst2$f.nBases, type="h", lwd=lwdSize, col="cornflowerblue", main=paste(covariateName,"histogram"), ylim=c(0, max(hst2$f.nBases)), xlab=covariateName, ylab="Count",yaxt="n",xlim=c(min(c$Covariate),max(c$Covariate))) - } else { - plot(hst$e.Covariate, hst$e.nBases, type="h", lwd=lwdSize, main=paste(covariateName,"histogram"), xlab=covariateName, ylim=c(0, max(hst$e.nBases)),ylab="Number of Bases",yaxt="n",xlim=c(min(c$Covariate),max(c$Covariate))) - points(hst2$f.Covariate, hst2$f.nBases, type="h", lwd=lwdSize, col="cornflowerblue") - } - axis(2,axTicks(2), format(axTicks(2), scientific=F)) -} else { # Dinuc (and other non-numeric covariates) are different to make their plots look nice - hst=subset(data.frame(c$Covariate, c$nBases), c.nBases != 0) - plot(1:length(hst$c.Covariate), hst$c.nBases, type="h", lwd=lwdSize, main=paste(covariateName,"histogram"), ylim=c(0, max(hst$c.nBases)),xlab=covariateName, ylab="Number of Bases",yaxt="n",xaxt="n") - if( length(hst$c.Covariate) > 9 ) { - axis(1, at=seq(1,length(hst$c.Covariate),2), labels = hst$c.Covariate[seq(1,length(hst$c.Covariate),2)]) - } else { - axis(1, at=seq(1,length(hst$c.Covariate),1), labels = hst$c.Covariate) - } - axis(2,axTicks(2), format(axTicks(2), scientific=F)) -} -dev.off() - -if (exists('compactPDF')) { - compactPDF(outfile) -} diff --git a/public/R/scripts/org/broadinstitute/sting/analyzecovariates/plot_residualError_QualityScoreCovariate.R b/public/R/scripts/org/broadinstitute/sting/analyzecovariates/plot_residualError_QualityScoreCovariate.R deleted file mode 100644 index 33eeb1f16..000000000 --- a/public/R/scripts/org/broadinstitute/sting/analyzecovariates/plot_residualError_QualityScoreCovariate.R +++ /dev/null @@ -1,84 +0,0 @@ -#!/bin/env Rscript - -library(tools) - -args <- commandArgs(TRUE) - -input = args[1] -Qcutoff = as.numeric(args[2]) -maxQ = as.numeric(args[3]) -maxHist = as.numeric(args[4]) - -t=read.table(input, header=T) - -# -# Plot of reported quality versus empirical quality -# - -outfile = paste(input, ".quality_emp_v_stated.pdf", sep="") -pdf(outfile, height=7, width=7) -d.good <- t[t$nBases >= 10000 & t$Qreported >= Qcutoff,] -d.1000 <- t[t$nBases < 1000 & t$Qreported >= Qcutoff,] -d.10000 <- t[t$nBases < 10000 & t$nBases >= 1000 & t$Qreported >= Qcutoff,] -f <- t[t$Qreported < Qcutoff,] -e <- rbind(d.good, d.1000, d.10000) -rmseGood = sqrt( sum(as.numeric((d.good$Qempirical-d.good$Qreported)^2 * d.good$nBases)) / sum(as.numeric(d.good$nBases)) ) # prevent integer overflow with as.numeric, ugh -rmseAll = sqrt( sum(as.numeric((e$Qempirical-e$Qreported)^2 * e$nBases)) / sum(as.numeric(e$nBases)) ) -theTitle = paste("RMSE_good =", round(rmseGood,digits=3), ", RMSE_all =", round(rmseAll,digits=3)) -if( length(t$nBases) - length(f$nBases) == length(d.good$nBases) ) { - theTitle = paste("RMSE =", round(rmseAll,digits=3)); -} -plot(d.good$Qreported, d.good$Qempirical, type="p", col="blue", main=theTitle, xlim=c(0,maxQ), ylim=c(0,maxQ), pch=16, xlab="Reported quality score", ylab="Empirical quality score") -points(d.1000$Qreported, d.1000$Qempirical, type="p", col="lightblue", pch=16) -points(d.10000$Qreported, d.10000$Qempirical, type="p", col="cornflowerblue", pch=16) -points(f$Qreported, f$Qempirical, type="p", col="maroon1", pch=16) -abline(0,1, lty=2) -dev.off() - -if (exists('compactPDF')) { - compactPDF(outfile) -} - -# -# Plot Q empirical histogram -# - -outfile = paste(input, ".quality_emp_hist.pdf", sep="") -pdf(outfile, height=7, width=7) -hst=subset(data.frame(e$Qempirical, e$nBases), e.nBases != 0) -hst2=subset(data.frame(f$Qempirical, f$nBases), f.nBases != 0) -percentBases=hst$e.nBases / sum(as.numeric(hst$e.nBases)) -entropy = -sum(log2(percentBases)*percentBases) -yMax = max(hst$e.nBases) -if(maxHist != 0) { -yMax = maxHist -} -plot(hst$e.Qempirical, hst$e.nBases, type="h", lwd=4, xlim=c(0,maxQ), ylim=c(0,yMax), main=paste("Empirical quality score histogram, entropy = ",round(entropy,digits=3)), xlab="Empirical quality score", ylab="Number of Bases",yaxt="n") -points(hst2$f.Qempirical, hst2$f.nBases, type="h", lwd=4, col="maroon1") -axis(2,axTicks(2), format(axTicks(2), scientific=F)) -dev.off() - -if (exists('compactPDF')) { - compactPDF(outfile) -} - -# -# Plot Q reported histogram -# - -outfile = paste(input, ".quality_rep_hist.pdf", sep="") -pdf(outfile, height=7, width=7) -hst=subset(data.frame(e$Qreported, e$nBases), e.nBases != 0) -hst2=subset(data.frame(f$Qreported, f$nBases), f.nBases != 0) -yMax = max(hst$e.nBases) -if(maxHist != 0) { -yMax = maxHist -} -plot(hst$e.Qreported, hst$e.nBases, type="h", lwd=4, xlim=c(0,maxQ), ylim=c(0,yMax), main=paste("Reported quality score histogram, entropy = ",round(entropy,digits=3)), xlab="Reported quality score", ylab="Number of Bases",yaxt="n") -points(hst2$f.Qreported, hst2$f.nBases, type="h", lwd=4, col="maroon1") -axis(2,axTicks(2), format(axTicks(2), scientific=F)) -dev.off() - -if (exists('compactPDF')) { - compactPDF(outfile) -} diff --git a/public/R/scripts/org/broadinstitute/sting/gatk/walkers/bqsr/BQSR.R b/public/R/scripts/org/broadinstitute/sting/gatk/walkers/bqsr/BQSR.R new file mode 100644 index 000000000..fd301cd97 --- /dev/null +++ b/public/R/scripts/org/broadinstitute/sting/gatk/walkers/bqsr/BQSR.R @@ -0,0 +1,100 @@ +library("ggplot2") + +args <- commandArgs(TRUE) +data <- read.csv(args[1]) +data <- within(data, EventType <- factor(EventType, levels = rev(levels(EventType)))) + +numRG = length(unique(data$ReadGroup)) +blankTheme = opts(panel.grid.major = theme_blank(), panel.grid.minor = theme_blank(), panel.background = theme_blank(), axis.ticks = theme_blank()) + +# Viewport (layout 2 graphs top to bottom) +distributeGraphRows <- function(graphs, heights = c()) { + if (length(heights) == 0) { + heights <- rep.int(1, length(graphs)) + } + heights <- heights[!is.na(graphs)] + graphs <- graphs[!is.na(graphs)] + numGraphs <- length(graphs) + Layout <- grid.layout(nrow = numGraphs, ncol = 1, heights=heights) + grid.newpage() + pushViewport(viewport(layout = Layout)) + subplot <- function(x) viewport(layout.pos.row = x, layout.pos.col = 1) + for (i in 1:numGraphs) { + print(graphs[[i]], vp = subplot(i)) + } +} + + +for(cov in levels(data$CovariateName)) { # for each covariate in turn + d = data[data$CovariateName==cov,] # pull out just the data for this covariate so we can treat the non-numeric values appropriately + if( cov == "Context" ) { + d$CovariateValue = as.character(d$CovariateValue) + d$CovariateValue = substring(d$CovariateValue,nchar(d$CovariateValue)-2,nchar(d$CovariateValue)) + } else { + d$CovariateValue = as.numeric(levels(d$CovariateValue))[as.integer(d$CovariateValue)] # efficient way to convert factors back to their real values + } + #d=subset(d,Observations>2000) # only show bins which have enough data to actually estimate the quality + dSub=subset(d,EventType=="Base Substitution") + dIns=subset(d,EventType=="Base Insertion") + dDel=subset(d,EventType=="Base Deletion") + dSub=dSub[sample.int(length(dSub[,1]),min(length(dSub[,1]),2000)),] # don't plot too many values because it makes the PDFs too massive + dIns=dIns[sample.int(length(dIns[,1]),min(length(dIns[,1]),2000)),] # don't plot too many values because it makes the PDFs too massive + dDel=dDel[sample.int(length(dDel[,1]),min(length(dDel[,1]),2000)),] # don't plot too many values because it makes the PDFs too massive + d=rbind(dSub, dIns, dDel) + + if( cov != "QualityScore" ) { + p <- ggplot(d, aes(x=CovariateValue,y=Accuracy,alpha=log10(Observations))) + + geom_abline(intercept=0, slope=0, linetype=2) + + xlab(paste(cov,"Covariate")) + + ylab("Quality Score Accuracy") + + blankTheme + if(cov == "Cycle") { + b <- p + geom_point(aes(color=Recalibration)) + scale_color_manual(values=c("maroon1","blue")) + facet_grid(.~EventType) + + opts(axis.text.x=theme_text(angle=90, hjust=0)) + + p <- ggplot(d, aes(x=CovariateValue,y=AverageReportedQuality,alpha=log10(Observations))) + + xlab(paste(cov,"Covariate")) + + ylab("Mean Quality Score") + + blankTheme + e <- p + geom_point(aes(color=Recalibration)) + scale_color_manual(values=c("maroon1","blue")) + facet_grid(.~EventType) + + opts(axis.text.x=theme_text(angle=90, hjust=0)) + + + } else { + c <- p + geom_point(aes(color=Recalibration)) + scale_color_manual(values=c("maroon1","blue")) + facet_grid(.~EventType) + + opts(axis.text.x=theme_text(angle=90, hjust=0)) + xlab(paste(cov,"Covariate (3 base suffix)")) + p <- ggplot(d, aes(x=CovariateValue,y=AverageReportedQuality,alpha=log10(Observations))) + + xlab(paste(cov,"Covariate (3 base suffix)")) + + ylab("Mean Quality Score") + + blankTheme + f <- p + geom_point(aes(color=Recalibration)) + scale_color_manual(values=c("maroon1","blue")) + facet_grid(.~EventType) + + opts(axis.text.x=theme_text(angle=90, hjust=0)) + + } + } else { + p <- ggplot(d, aes(x=AverageReportedQuality,y=EmpiricalQuality,alpha=log10(Observations))) + + geom_abline(intercept=0, slope=1, linetype=2) + + xlab("Reported Quality Score") + + ylab("Empirical Quality Score") + + blankTheme + a <- p + geom_point(aes(color=Recalibration)) + scale_color_manual(values=c("maroon1","blue")) + facet_grid(.~EventType) + + p <- ggplot(d, aes(x=CovariateValue)) + + xlab(paste(cov,"Covariate")) + + ylab("Number of Observations") + + blankTheme + d <- p + geom_histogram(aes(fill=Recalibration,weight=Observations),alpha=0.6,binwidth=1,position="identity") + scale_fill_manual(values=c("maroon1","blue")) + facet_grid(.~EventType) + + scale_y_continuous(formatter="comma") + + } +} + +pdf(args[2],height=9,width=15) +distributeGraphRows(list(a,b,c), c(1,1,1)) +distributeGraphRows(list(d,e,f), c(1,1,1)) +dev.off() + + +if (exists('compactPDF')) { + compactPDF(args[2]) +} diff --git a/public/R/scripts/org/broadinstitute/sting/queue/util/queueJobReport.R b/public/R/scripts/org/broadinstitute/sting/queue/util/queueJobReport.R index ae340e688..36e6343cb 100644 --- a/public/R/scripts/org/broadinstitute/sting/queue/util/queueJobReport.R +++ b/public/R/scripts/org/broadinstitute/sting/queue/util/queueJobReport.R @@ -2,6 +2,7 @@ library(gsalib) library(ggplot2) library(gplots) library(tools) +library(reshape) # # Standard command line switch. Can we loaded interactively for development diff --git a/public/R/src/org/broadinstitute/sting/utils/R/gsalib/man/gsalib-package.Rd b/public/R/src/org/broadinstitute/sting/utils/R/gsalib/man/gsalib-package.Rd index 2b8d6db9f..dc7a08287 100644 --- a/public/R/src/org/broadinstitute/sting/utils/R/gsalib/man/gsalib-package.Rd +++ b/public/R/src/org/broadinstitute/sting/utils/R/gsalib/man/gsalib-package.Rd @@ -19,9 +19,9 @@ Medical and Population Genetics Program Maintainer: Kiran Garimella } \references{ -GSA wiki page: http://www.broadinstitute.org/gsa/wiki +GSA wiki page: http://www.broadinstitute.org/gatk -GATK help forum: http://www.getsatisfaction.com/gsa +GATK help forum: http://www.broadinstitute.org/gatk } \examples{ ## get script arguments in interactive and non-interactive mode diff --git a/public/java/src/org/broadinstitute/sting/alignment/AlignmentValidationWalker.java b/public/java/src/org/broadinstitute/sting/alignment/AlignmentValidation.java similarity index 98% rename from public/java/src/org/broadinstitute/sting/alignment/AlignmentValidationWalker.java rename to public/java/src/org/broadinstitute/sting/alignment/AlignmentValidation.java index a342cf932..7af83d14b 100644 --- a/public/java/src/org/broadinstitute/sting/alignment/AlignmentValidationWalker.java +++ b/public/java/src/org/broadinstitute/sting/alignment/AlignmentValidation.java @@ -46,7 +46,7 @@ import java.util.Iterator; * @author mhanna * @version 0.1 */ -public class AlignmentValidationWalker extends ReadWalker { +public class AlignmentValidation extends ReadWalker { /** * The supporting BWT index generated using BWT. */ diff --git a/public/java/src/org/broadinstitute/sting/alignment/CountBestAlignmentsWalker.java b/public/java/src/org/broadinstitute/sting/alignment/CountBestAlignments.java similarity index 98% rename from public/java/src/org/broadinstitute/sting/alignment/CountBestAlignmentsWalker.java rename to public/java/src/org/broadinstitute/sting/alignment/CountBestAlignments.java index d91b83e7a..b0580fe50 100644 --- a/public/java/src/org/broadinstitute/sting/alignment/CountBestAlignmentsWalker.java +++ b/public/java/src/org/broadinstitute/sting/alignment/CountBestAlignments.java @@ -48,7 +48,7 @@ import java.util.TreeMap; * @author mhanna * @version 0.1 */ -public class CountBestAlignmentsWalker extends ReadWalker { +public class CountBestAlignments extends ReadWalker { /** * The supporting BWT index generated using BWT. */ diff --git a/public/java/src/org/broadinstitute/sting/analyzecovariates/AnalysisDataManager.java b/public/java/src/org/broadinstitute/sting/analyzecovariates/AnalysisDataManager.java deleted file mode 100755 index d7f0e560f..000000000 --- a/public/java/src/org/broadinstitute/sting/analyzecovariates/AnalysisDataManager.java +++ /dev/null @@ -1,113 +0,0 @@ -/* - * Copyright (c) 2010 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.analyzecovariates; - -import org.broadinstitute.sting.gatk.walkers.recalibration.RecalDatum; -import org.broadinstitute.sting.utils.collections.NestedHashMap; - -import java.util.ArrayList; - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Dec 1, 2009 - * - * The difference between this AnalysisDataManager and the RecalDataManager used by the Recalibration walkers is that here the collapsed data tables are indexed - * by only read group and the given covariate, while in the recalibrator the collapsed tables are indexed by read group, reported quality, and the given covariate. - */ - -public class AnalysisDataManager { - - private NestedHashMap dataCollapsedReadGroup; // Table where everything except read group has been collapsed - private ArrayList dataCollapsedByCovariate; // Tables where everything except read group and given covariate has been collapsed - - AnalysisDataManager() { - } - - AnalysisDataManager( final int numCovariates ) { - dataCollapsedReadGroup = new NestedHashMap(); - dataCollapsedByCovariate = new ArrayList(); - for( int iii = 0; iii < numCovariates - 1; iii++ ) { // readGroup isn't counted here, its table is separate - dataCollapsedByCovariate.add( new NestedHashMap() ); - } - } - - /** - * Add the given mapping to all of the collapsed hash tables - * @param key The list of comparables that is the key for this mapping - * @param fullDatum The RecalDatum which is the data for this mapping - * @param IGNORE_QSCORES_LESS_THAN The threshold in report quality for adding to the aggregate collapsed table - */ - public final void addToAllTables( final Object[] key, final RecalDatum fullDatum, final int IGNORE_QSCORES_LESS_THAN ) { - - int qscore = Integer.parseInt( key[1].toString() ); - RecalDatum collapsedDatum; - final Object[] readGroupCollapsedKey = new Object[1]; - final Object[] covariateCollapsedKey = new Object[2]; - - if( !(qscore < IGNORE_QSCORES_LESS_THAN) ) { - // Create dataCollapsedReadGroup, the table where everything except read group has been collapsed - readGroupCollapsedKey[0] = key[0]; // Make a new key with just the read group - collapsedDatum = (RecalDatum)dataCollapsedReadGroup.get( readGroupCollapsedKey ); - if( collapsedDatum == null ) { - dataCollapsedReadGroup.put( new RecalDatum(fullDatum), readGroupCollapsedKey ); - } else { - collapsedDatum.combine( fullDatum ); // using combine instead of increment in order to calculate overall aggregateQReported - } - } - - // Create dataCollapsedByCovariate's, the tables where everything except read group and given covariate has been collapsed - for( int iii = 0; iii < dataCollapsedByCovariate.size(); iii++ ) { - if( iii == 0 || !(qscore < IGNORE_QSCORES_LESS_THAN) ) { // use all data for the plot versus reported quality, but not for the other plots versus cycle and etc. - covariateCollapsedKey[0] = key[0]; // Make a new key with the read group ... - Object theCovariateElement = key[iii + 1]; // and the given covariate - if( theCovariateElement != null ) { - covariateCollapsedKey[1] = theCovariateElement; - collapsedDatum = (RecalDatum)dataCollapsedByCovariate.get(iii).get( covariateCollapsedKey ); - if( collapsedDatum == null ) { - dataCollapsedByCovariate.get(iii).put( new RecalDatum(fullDatum), covariateCollapsedKey ); - } else { - collapsedDatum.combine( fullDatum ); - } - } - } - } - } - - /** - * Get the appropriate collapsed table out of the set of all the tables held by this Object - * @param covariate Which covariate indexes the desired collapsed HashMap - * @return The desired collapsed HashMap - */ - public final NestedHashMap getCollapsedTable( final int covariate ) { - if( covariate == 0) { - return dataCollapsedReadGroup; // Table where everything except read group has been collapsed - } else { - return dataCollapsedByCovariate.get( covariate - 1 ); // Table where everything except read group, quality score, and given covariate has been collapsed - } - } - -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/analyzecovariates/AnalyzeCovariates.java b/public/java/src/org/broadinstitute/sting/analyzecovariates/AnalyzeCovariates.java deleted file mode 100755 index a99959341..000000000 --- a/public/java/src/org/broadinstitute/sting/analyzecovariates/AnalyzeCovariates.java +++ /dev/null @@ -1,383 +0,0 @@ -/* - * Copyright (c) 2010 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.analyzecovariates; - -import org.apache.commons.io.FileUtils; -import org.apache.commons.io.IOUtils; -import org.apache.log4j.Logger; -import org.broadinstitute.sting.commandline.Argument; -import org.broadinstitute.sting.commandline.Hidden; -import org.broadinstitute.sting.commandline.CommandLineProgram; -import org.broadinstitute.sting.commandline.Input; -import org.broadinstitute.sting.gatk.walkers.recalibration.Covariate; -import org.broadinstitute.sting.gatk.walkers.recalibration.RecalDatum; -import org.broadinstitute.sting.gatk.walkers.recalibration.RecalibrationArgumentCollection; -import org.broadinstitute.sting.utils.R.RScriptExecutor; -import org.broadinstitute.sting.utils.Utils; -import org.broadinstitute.sting.utils.classloader.PluginManager; -import org.broadinstitute.sting.utils.exceptions.DynamicClassResolutionException; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; -import org.broadinstitute.sting.utils.io.Resource; -import org.broadinstitute.sting.utils.text.XReadLines; - -import java.io.*; -import java.util.ArrayList; -import java.util.Collection; -import java.util.Map; -import java.util.regex.Pattern; - -/** - * Call R scripts to plot residual error versus the various covariates. - * - *

- * After counting covariates in either the initial BAM File or again in the recalibrated BAM File, an analysis tool is available which - * reads the .csv file and outputs several PDF (and .dat) files for each read group in the given BAM. These PDF files graphically - * show the various metrics and characteristics of the reported quality scores (often in relation to the empirical qualities). - * In order to show that any biases in the reported quality scores have been generally fixed through recalibration one should run - * CountCovariates again on a bam file produced by TableRecalibration. In this way users can compare the analysis plots generated - * by pre-recalibration and post-recalibration .csv files. Our usual chain of commands that we use to generate plots of residual - * error is: CountCovariates, TableRecalibrate, samtools index on the recalibrated bam file, CountCovariates again on the recalibrated - * bam file, and then AnalyzeCovariates on both the before and after recal_data.csv files to see the improvement in recalibration. - * - *

- * The color coding along with the RMSE is included in the plots to give some indication of the number of observations that went into - * each of the quality score estimates. It is defined as follows for N, the number of observations: - * - *

    - *
  • light blue means N < 1,000
  • - *
  • cornflower blue means 1,000 <= N < 10,000
  • - *
  • dark blue means N >= 10,000
  • - *
  • The pink dots indicate points whose quality scores are special codes used by the aligner and which are mathematically - * meaningless and so aren't included in any of the numerical calculations.
  • - *
- * - *

- * NOTE: Rscript needs to be in your environment PATH (this is the scripting version of R, not the interactive version). - * See http://www.r-project.org for more info on how to download and install R. - * - *

- * See the GATK wiki for a tutorial and example recalibration accuracy plots. - * http://www.broadinstitute.org/gsa/wiki/index.php/Base_quality_score_recalibration - * - *

Input

- *

- * The recalibration table file in CSV format that was generated by the CountCovariates walker. - *

- * - *

Examples

- *
- * java -Xmx4g -jar AnalyzeCovariates.jar \
- *   -recalFile /path/to/recal.table.csv  \
- *   -outputDir /path/to/output_dir/  \
- *   -ignoreQ 5
- * 
- * - */ - -@DocumentedGATKFeature( - groupName = "AnalyzeCovariates", - summary = "Package to plot residual accuracy versus error covariates for the base quality score recalibrator") -public class AnalyzeCovariates extends CommandLineProgram { - final private static Logger logger = Logger.getLogger(AnalyzeCovariates.class); - - private static final String PLOT_RESDIUAL_ERROR_QUALITY_SCORE_COVARIATE = "plot_residualError_QualityScoreCovariate.R"; - private static final String PLOT_RESDIUAL_ERROR_OTHER_COVARIATE = "plot_residualError_OtherCovariate.R"; - private static final String PLOT_INDEL_QUALITY_RSCRIPT = "plot_indelQuality.R"; - - ///////////////////////////// - // Command Line Arguments - ///////////////////////////// - /** - * After the header, data records occur one per line until the end of the file. The first several items on a line are the - * values of the individual covariates and will change depending on which covariates were specified at runtime. The last - * three items are the data- that is, number of observations for this combination of covariates, number of reference mismatches, - * and the raw empirical quality score calculated by phred-scaling the mismatch rate. - */ - @Input(fullName = "recal_file", shortName = "recalFile", doc = "The input recal csv file to analyze", required = false) - private String RECAL_FILE = "output.recal_data.csv"; - @Argument(fullName = "output_dir", shortName = "outputDir", doc = "The directory in which to output all the plots and intermediate data files", required = false) - private File OUTPUT_DIR = new File("analyzeCovariates"); - @Argument(fullName = "ignoreQ", shortName = "ignoreQ", doc = "Ignore bases with reported quality less than this number.", required = false) - private int IGNORE_QSCORES_LESS_THAN = 5; - @Argument(fullName = "numRG", shortName = "numRG", doc = "Only process N read groups. Default value: -1 (process all read groups)", required = false) - private int NUM_READ_GROUPS_TO_PROCESS = -1; // -1 means process all read groups - - /** - * Combinations of covariates in which there are zero mismatches technically have infinite quality. We get around this situation - * by capping at the specified value. We've found that Q40 is too low when using a more completely database of known variation like dbSNP build 132 or later. - */ - @Argument(fullName="max_quality_score", shortName="maxQ", required = false, doc="The integer value at which to cap the quality scores, default is 50") - private int MAX_QUALITY_SCORE = 50; - - /** - * This argument is useful for comparing before/after plots and you want the axes to match each other. - */ - @Argument(fullName="max_histogram_value", shortName="maxHist", required = false, doc="If supplied, this value will be the max value of the histogram plots") - private int MAX_HISTOGRAM_VALUE = 0; - - @Hidden - @Argument(fullName="do_indel_quality", shortName="indels", required = false, doc="If supplied, do indel quality plotting") - private boolean DO_INDEL_QUALITY = false; - - ///////////////////////////// - // Private Member Variables - ///////////////////////////// - private AnalysisDataManager dataManager; // Holds the data HashMap, mostly used by TableRecalibrationWalker to create collapsed data hashmaps - private ArrayList requestedCovariates; // List of covariates to be used in this calculation - private final Pattern COMMENT_PATTERN = Pattern.compile("^#.*"); - private final Pattern OLD_RECALIBRATOR_HEADER = Pattern.compile("^rg,.*"); - private final Pattern COVARIATE_PATTERN = Pattern.compile("^ReadGroup,QualityScore,.*"); - protected static final String EOF_MARKER = "EOF"; - - protected int execute() { - - // create the output directory where all the data tables and plots will go - if (!OUTPUT_DIR.exists() && !OUTPUT_DIR.mkdirs()) - throw new UserException.BadArgumentValue("--output_dir/-outDir", "Unable to create output directory: " + OUTPUT_DIR); - - if (!RScriptExecutor.RSCRIPT_EXISTS) - Utils.warnUser(logger, "Rscript not found in environment path. Plots will not be generated."); - - // initialize all the data from the csv file and allocate the list of covariates - logger.info("Reading in input csv file..."); - initializeData(); - logger.info("...Done!"); - - // output data tables for Rscript to read in - logger.info("Writing out intermediate tables for R..."); - writeDataTables(); - logger.info("...Done!"); - - // perform the analysis using Rscript and output the plots - logger.info("Calling analysis R scripts and writing out figures..."); - callRScripts(); - logger.info("...Done!"); - - return 0; - } - - private void initializeData() { - - // Get a list of all available covariates - Collection> classes = new PluginManager(Covariate.class).getPlugins(); - - int lineNumber = 0; - boolean foundAllCovariates = false; - - // Read in the covariates that were used from the input file - requestedCovariates = new ArrayList(); - - try { - for ( String line : new XReadLines(new File( RECAL_FILE )) ) { - lineNumber++; - if( COMMENT_PATTERN.matcher(line).matches() || OLD_RECALIBRATOR_HEADER.matcher(line).matches() || line.equals(EOF_MARKER) ) { - ; // Skip over the comment lines, (which start with '#') - } - else if( COVARIATE_PATTERN.matcher(line).matches() ) { // The line string is either specifying a covariate or is giving csv data - if( foundAllCovariates ) { - throw new RuntimeException( "Malformed input recalibration file. Found covariate names intermingled with data in file: " + RECAL_FILE ); - } else { // Found the covariate list in input file, loop through all of them and instantiate them - String[] vals = line.split(","); - for( int iii = 0; iii < vals.length - 3; iii++ ) { // There are n-3 covariates. The last three items are nObservations, nMismatch, and Qempirical - boolean foundClass = false; - for( Class covClass : classes ) { - if( (vals[iii] + "Covariate").equalsIgnoreCase( covClass.getSimpleName() ) ) { - foundClass = true; - try { - Covariate covariate = (Covariate)covClass.newInstance(); - requestedCovariates.add( covariate ); - } catch (Exception e) { - throw new DynamicClassResolutionException(covClass, e); - } - } - } - - if( !foundClass ) { - throw new RuntimeException( "Malformed input recalibration file. The requested covariate type (" + (vals[iii] + "Covariate") + ") isn't a valid covariate option." ); - } - } - - } - - } else { // Found a line of data - if( !foundAllCovariates ) { - - foundAllCovariates = true; - - // At this point all the covariates should have been found and initialized - if( requestedCovariates.size() < 2 ) { - throw new RuntimeException( "Malformed input recalibration file. Covariate names can't be found in file: " + RECAL_FILE ); - } - - // Initialize any covariate member variables using the shared argument collection - for( Covariate cov : requestedCovariates ) { - cov.initialize( new RecalibrationArgumentCollection() ); - } - - // Initialize the data hashMaps - dataManager = new AnalysisDataManager( requestedCovariates.size() ); - - } - addCSVData(line); // Parse the line and add the data to the HashMap - } - } - - } catch ( FileNotFoundException e ) { - throw new RuntimeException("Can not find input file: " + RECAL_FILE); - } catch ( NumberFormatException e ) { - throw new RuntimeException("Error parsing recalibration data at line " + lineNumber + ". Perhaps your table was generated by an older version of CovariateCounterWalker."); - } - } - - private void addCSVData(String line) { - String[] vals = line.split(","); - - // Check if the data line is malformed, for example if the read group string contains a comma then it won't be parsed correctly - if( vals.length != requestedCovariates.size() + 3 ) { // +3 because of nObservations, nMismatch, and Qempirical - throw new RuntimeException("Malformed input recalibration file. Found data line with too many fields: " + line + - " --Perhaps the read group string contains a comma and isn't being parsed correctly."); - } - - Object[] key = new Object[requestedCovariates.size()]; - Covariate cov; - int iii; - for( iii = 0; iii < requestedCovariates.size(); iii++ ) { - cov = requestedCovariates.get( iii ); - key[iii] = cov.getValue( vals[iii] ); - } - // Create a new datum using the number of observations, number of mismatches, and reported quality score - RecalDatum datum = new RecalDatum( Long.parseLong( vals[iii] ), Long.parseLong( vals[iii + 1] ), Double.parseDouble( vals[1] ), 0.0 ); - // Add that datum to all the collapsed tables which will be used in the sequential calculation - dataManager.addToAllTables( key, datum, IGNORE_QSCORES_LESS_THAN ); - } - - private void writeDataTables() { - - int numReadGroups = 0; - - // for each read group - for( Object readGroupKey : dataManager.getCollapsedTable(0).data.keySet() ) { - - if(NUM_READ_GROUPS_TO_PROCESS == -1 || ++numReadGroups <= NUM_READ_GROUPS_TO_PROCESS) { - String readGroup = readGroupKey.toString(); - RecalDatum readGroupDatum = (RecalDatum) dataManager.getCollapsedTable(0).data.get(readGroupKey); - logger.info(String.format( - "Writing out data tables for read group: %s\twith %s observations\tand aggregate residual error = %.3f", - readGroup, readGroupDatum.getNumObservations(), - readGroupDatum.empiricalQualDouble(0, MAX_QUALITY_SCORE) - readGroupDatum.getEstimatedQReported())); - - // for each covariate - for( int iii = 1; iii < requestedCovariates.size(); iii++ ) { - Covariate cov = requestedCovariates.get(iii); - - // Create a PrintStream - File outputFile = new File(OUTPUT_DIR, readGroup + "." + cov.getClass().getSimpleName()+ ".dat"); - PrintStream output; - try { - output = new PrintStream(FileUtils.openOutputStream(outputFile)); - } catch (IOException e) { - throw new UserException.CouldNotCreateOutputFile(outputFile, e); - } - - try { - // Output the header - output.println("Covariate\tQreported\tQempirical\tnMismatches\tnBases"); - - for( Object covariateKey : ((Map)dataManager.getCollapsedTable(iii).data.get(readGroupKey)).keySet()) { - output.print( covariateKey.toString() + "\t" ); // Covariate - RecalDatum thisDatum = (RecalDatum)((Map)dataManager.getCollapsedTable(iii).data.get(readGroupKey)).get(covariateKey); - output.print( String.format("%.3f", thisDatum.getEstimatedQReported()) + "\t" ); // Qreported - output.print( String.format("%.3f", thisDatum.empiricalQualDouble(0, MAX_QUALITY_SCORE)) + "\t" ); // Qempirical - output.print( thisDatum.getNumMismatches() + "\t" ); // nMismatches - output.println( thisDatum.getNumObservations() ); // nBases - } - } finally { - // Close the PrintStream - IOUtils.closeQuietly(output); - } - } - } else { - break; - } - - } - } - - private void callRScripts() { - int numReadGroups = 0; - - // for each read group - for( Object readGroupKey : dataManager.getCollapsedTable(0).data.keySet() ) { - if(++numReadGroups <= NUM_READ_GROUPS_TO_PROCESS || NUM_READ_GROUPS_TO_PROCESS == -1) { - - String readGroup = readGroupKey.toString(); - logger.info("Analyzing read group: " + readGroup); - - // for each covariate - for( int iii = 1; iii < requestedCovariates.size(); iii++ ) { - final Covariate cov = requestedCovariates.get(iii); - final File outputFile = new File(OUTPUT_DIR, readGroup + "." + cov.getClass().getSimpleName()+ ".dat"); - if (DO_INDEL_QUALITY) { - RScriptExecutor executor = new RScriptExecutor(); - executor.addScript(new Resource(PLOT_INDEL_QUALITY_RSCRIPT, AnalyzeCovariates.class)); - // The second argument is the name of the covariate in order to make the plots look nice - executor.addArgs(outputFile, cov.getClass().getSimpleName().split("Covariate")[0]); - executor.exec(); - } else { - if( iii == 1 ) { - // Analyze reported quality - RScriptExecutor executor = new RScriptExecutor(); - executor.addScript(new Resource(PLOT_RESDIUAL_ERROR_QUALITY_SCORE_COVARIATE, AnalyzeCovariates.class)); - // The second argument is the Q scores that should be turned pink in the plot because they were ignored - executor.addArgs(outputFile, IGNORE_QSCORES_LESS_THAN, MAX_QUALITY_SCORE, MAX_HISTOGRAM_VALUE); - executor.exec(); - } else { // Analyze all other covariates - RScriptExecutor executor = new RScriptExecutor(); - executor.addScript(new Resource(PLOT_RESDIUAL_ERROR_OTHER_COVARIATE, AnalyzeCovariates.class)); - // The second argument is the name of the covariate in order to make the plots look nice - executor.addArgs(outputFile, cov.getClass().getSimpleName().split("Covariate")[0]); - executor.exec(); - } - } - } - } else { // at the maximum number of read groups so break out - break; - } - } - } - - public static void main(String args[]) { - try { - AnalyzeCovariates clp = new AnalyzeCovariates(); - start(clp, args); - System.exit(CommandLineProgram.result); - } catch (Exception e) { - exitSystemWithError(e); - } - } -} diff --git a/public/java/src/org/broadinstitute/sting/analyzecovariates/package-info.java b/public/java/src/org/broadinstitute/sting/analyzecovariates/package-info.java deleted file mode 100644 index 9350e4a66..000000000 --- a/public/java/src/org/broadinstitute/sting/analyzecovariates/package-info.java +++ /dev/null @@ -1,4 +0,0 @@ -/** - * Package to plot residual accuracy versus error covariates for the base quality score recalibrator. - */ -package org.broadinstitute.sting.analyzecovariates; \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/commandline/ArgumentTypeDescriptor.java b/public/java/src/org/broadinstitute/sting/commandline/ArgumentTypeDescriptor.java index 94ed23caf..c201e95f0 100644 --- a/public/java/src/org/broadinstitute/sting/commandline/ArgumentTypeDescriptor.java +++ b/public/java/src/org/broadinstitute/sting/commandline/ArgumentTypeDescriptor.java @@ -289,7 +289,7 @@ public abstract class ArgumentTypeDescriptor { return field.isAnnotationPresent(Hidden.class); } - public Class makeRawTypeIfNecessary(Type t) { + public static Class makeRawTypeIfNecessary(Type t) { if ( t == null ) return null; else if ( t instanceof ParameterizedType ) @@ -300,6 +300,115 @@ public abstract class ArgumentTypeDescriptor { throw new IllegalArgumentException("Unable to determine Class-derived component type of field: " + t); } } + + /** + * The actual argument parsing method. + * @param source source + * @param type type to check + * @param matches matches + * @return the RodBinding/IntervalBinding object depending on the value of createIntervalBinding. + */ + protected Object parseBinding(ArgumentSource source, Type type, ArgumentMatches matches, Tags tags) { + ArgumentDefinition defaultDefinition = createDefaultArgumentDefinition(source); + String value = getArgumentValue(defaultDefinition, matches); + @SuppressWarnings("unchecked") + Class parameterType = JVMUtils.getParameterizedTypeClass(type); + String name = defaultDefinition.fullName; + + return parseBinding(value, parameterType, type, name, tags, source.field.getName()); + } + + /** + * + * @param value The source of the binding + * @param parameterType The Tribble Feature parameter type + * @param bindingClass The class type for the binding (ex: RodBinding, IntervalBinding, etc.) Must have the correct constructor for creating the binding. + * @param bindingName The name of the binding passed to the constructor. + * @param tags Tags for the binding used for parsing and passed to the constructor. + * @param fieldName The name of the field that was parsed. Used for error reporting. + * @return The newly created binding object of type bindingClass. + */ + public static Object parseBinding(String value, Class parameterType, Type bindingClass, + String bindingName, Tags tags, String fieldName) { + try { + String tribbleType = null; + // must have one or two tag values here + if ( tags.getPositionalTags().size() > 2 ) { + throw new UserException.CommandLineException( + String.format("Unexpected number of positional tags for argument %s : %s. " + + "Rod bindings only support -X:type and -X:name,type argument styles", + value, fieldName)); + } else if ( tags.getPositionalTags().size() == 2 ) { + // -X:name,type style + bindingName = tags.getPositionalTags().get(0); + tribbleType = tags.getPositionalTags().get(1); + + FeatureManager manager = new FeatureManager(); + if ( manager.getByName(tribbleType) == null ) + throw new UserException.UnknownTribbleType( + tribbleType, + String.format("Unable to find tribble type '%s' provided on the command line. " + + "Please select a correct type from among the supported types:%n%s", + tribbleType, manager.userFriendlyListOfAvailableFeatures(parameterType))); + + } else { + // case with 0 or 1 positional tags + FeatureManager manager = new FeatureManager(); + + // -X:type style is a type when we cannot determine the type dynamically + String tag1 = tags.getPositionalTags().size() == 1 ? tags.getPositionalTags().get(0) : null; + if ( tag1 != null ) { + if ( manager.getByName(tag1) != null ) // this a type + tribbleType = tag1; + else + bindingName = tag1; + } + + if ( tribbleType == null ) { + // try to determine the file type dynamically + File file = new File(value); + if ( file.canRead() && file.isFile() ) { + FeatureManager.FeatureDescriptor featureDescriptor = manager.getByFiletype(file); + if ( featureDescriptor != null ) { + tribbleType = featureDescriptor.getName(); + logger.info("Dynamically determined type of " + file + " to be " + tribbleType); + } + } + + if ( tribbleType == null ) { + // IntervalBinding can be created from a normal String + Class rawType = (makeRawTypeIfNecessary(bindingClass)); + try { + return rawType.getConstructor(String.class).newInstance(value); + } catch (NoSuchMethodException e) { + /* ignore */ + } + + if ( ! file.exists() ) { + throw new UserException.CouldNotReadInputFile(file, "file does not exist"); + } else if ( ! file.canRead() || ! file.isFile() ) { + throw new UserException.CouldNotReadInputFile(file, "file could not be read"); + } else { + throw new UserException.CommandLineException( + String.format("No tribble type was provided on the command line and the type of the file could not be determined dynamically. " + + "Please add an explicit type tag :NAME listing the correct type from among the supported types:%n%s", + manager.userFriendlyListOfAvailableFeatures(parameterType))); + } + } + } + } + + Constructor ctor = (makeRawTypeIfNecessary(bindingClass)).getConstructor(Class.class, String.class, String.class, String.class, Tags.class); + return ctor.newInstance(parameterType, bindingName, value, tribbleType, tags); + } catch (Exception e) { + if ( e instanceof UserException ) + throw ((UserException)e); + else + throw new UserException.CommandLineException( + String.format("Failed to parse value %s for argument %s. Message: %s", + value, fieldName, e.getMessage())); + } + } } /** @@ -324,6 +433,7 @@ class RodBindingArgumentTypeDescriptor extends ArgumentTypeDescriptor { public boolean createsTypeDefault(ArgumentSource source) { return ! source.isRequired(); } @Override + @SuppressWarnings("unchecked") public Object createTypeDefault(ParsingEngine parsingEngine, ArgumentSource source, Type type) { Class parameterType = JVMUtils.getParameterizedTypeClass(type); return RodBinding.makeUnbound((Class)parameterType); @@ -336,118 +446,16 @@ class RodBindingArgumentTypeDescriptor extends ArgumentTypeDescriptor { @Override public Object parse(ParsingEngine parsingEngine, ArgumentSource source, Type type, ArgumentMatches matches) { - return parse(parsingEngine, source, type, matches, false); - } - - /** - * The actual argument parsing method. - * - * IMPORTANT NOTE: the createIntervalBinding argument is a bit of a hack, but after discussions with SE we've decided - * that it's the best way to proceed for now. IntervalBindings can either be proper RodBindings (hence the use of - * this parse() method) or can be Strings (representing raw intervals or the files containing them). If createIntervalBinding - * is true, we do not call parsingEngine.addRodBinding() because we don't want walkers to assume that these are the - * usual set of RodBindings. It also allows us in the future to be smart about tagging rods as intervals. One other - * side point is that we want to continue to allow the usage of non-Feature intervals so that users can theoretically - * continue to input them out of order (whereas Tribble Features are ordered). - * - * @param parsingEngine parsing engine - * @param source source - * @param type type to check - * @param matches matches - * @param createIntervalBinding should we attempt to create an IntervalBinding instead of a RodBinding? - * @return the RodBinding/IntervalBinding object depending on the value of createIntervalBinding. - */ - public Object parse(ParsingEngine parsingEngine, ArgumentSource source, Type type, ArgumentMatches matches, boolean createIntervalBinding) { - ArgumentDefinition defaultDefinition = createDefaultArgumentDefinition(source); - String value = getArgumentValue( defaultDefinition, matches ); - Class parameterType = JVMUtils.getParameterizedTypeClass(type); - - try { - String name = defaultDefinition.fullName; - String tribbleType = null; - Tags tags = getArgumentTags(matches); - // must have one or two tag values here - if ( tags.getPositionalTags().size() > 2 ) { - throw new UserException.CommandLineException( - String.format("Unexpected number of positional tags for argument %s : %s. " + - "Rod bindings only support -X:type and -X:name,type argument styles", - value, source.field.getName())); - } if ( tags.getPositionalTags().size() == 2 ) { - // -X:name,type style - name = tags.getPositionalTags().get(0); - tribbleType = tags.getPositionalTags().get(1); - } else { - // case with 0 or 1 positional tags - FeatureManager manager = new FeatureManager(); - - // -X:type style is a type when we cannot determine the type dynamically - String tag1 = tags.getPositionalTags().size() == 1 ? tags.getPositionalTags().get(0) : null; - if ( tag1 != null ) { - if ( manager.getByName(tag1) != null ) // this a type - tribbleType = tag1; - else - name = tag1; - } - - if ( tribbleType == null ) { - // try to determine the file type dynamically - File file = new File(value); - if ( file.canRead() && file.isFile() ) { - FeatureManager.FeatureDescriptor featureDescriptor = manager.getByFiletype(file); - if ( featureDescriptor != null ) { - tribbleType = featureDescriptor.getName(); - logger.info("Dynamically determined type of " + file + " to be " + tribbleType); - } - } - - if ( tribbleType == null ) { - // IntervalBindings allow streaming conversion of Strings - if ( createIntervalBinding ) { - return new IntervalBinding(value); - } - - if ( ! file.exists() ) { - throw new UserException.CouldNotReadInputFile(file, "file does not exist"); - } else if ( ! file.canRead() || ! file.isFile() ) { - throw new UserException.CouldNotReadInputFile(file, "file could not be read"); - } else { - throw new UserException.CommandLineException( - String.format("No tribble type was provided on the command line and the type of the file could not be determined dynamically. " + - "Please add an explicit type tag :NAME listing the correct type from among the supported types:%n%s", - manager.userFriendlyListOfAvailableFeatures(parameterType))); - } - } - } - } - - Constructor ctor = (makeRawTypeIfNecessary(type)).getConstructor(Class.class, String.class, String.class, String.class, Tags.class); - Object result; - if ( createIntervalBinding ) { - result = ctor.newInstance(parameterType, name, value, tribbleType, tags); - } else { - RodBinding rbind = (RodBinding)ctor.newInstance(parameterType, name, value, tribbleType, tags); - parsingEngine.addTags(rbind, tags); - parsingEngine.addRodBinding(rbind); - result = rbind; - } - return result; - } catch (InvocationTargetException e) { - throw new UserException.CommandLineException( - String.format("Failed to parse value %s for argument %s.", - value, source.field.getName())); - } catch (Exception e) { - if ( e instanceof UserException ) - throw ((UserException)e); - else - throw new UserException.CommandLineException( - String.format("Failed to parse value %s for argument %s. Message: %s", - value, source.field.getName(), e.getMessage())); - } + Tags tags = getArgumentTags(matches); + RodBinding rbind = (RodBinding)parseBinding(source, type, matches, tags); + parsingEngine.addTags(rbind, tags); + parsingEngine.addRodBinding(rbind); + return rbind; } } /** - * Parser for RodBinding objects + * Parser for IntervalBinding objects */ class IntervalBindingArgumentTypeDescriptor extends ArgumentTypeDescriptor { /** @@ -475,7 +483,7 @@ class IntervalBindingArgumentTypeDescriptor extends ArgumentTypeDescriptor { */ @Override public Object parse(ParsingEngine parsingEngine, ArgumentSource source, Type type, ArgumentMatches matches) { - return new RodBindingArgumentTypeDescriptor().parse(parsingEngine, source, type, matches, true); + return parseBinding(source, type, matches, getArgumentTags(matches)); } } @@ -783,7 +791,7 @@ class MultiplexArgumentTypeDescriptor extends ArgumentTypeDescriptor { } Class multiplexerType = dependentArgument.field.getAnnotation(Multiplex.class).value(); - Constructor multiplexerConstructor = null; + Constructor multiplexerConstructor; try { multiplexerConstructor = multiplexerType.getConstructor(sourceTypes); multiplexerConstructor.setAccessible(true); @@ -792,7 +800,7 @@ class MultiplexArgumentTypeDescriptor extends ArgumentTypeDescriptor { throw new ReviewedStingException(String.format("Unable to find constructor for class %s with parameters %s",multiplexerType.getName(),Arrays.deepToString(sourceFields)),ex); } - Multiplexer multiplexer = null; + Multiplexer multiplexer; try { multiplexer = multiplexerConstructor.newInstance(sourceValues); } diff --git a/public/java/src/org/broadinstitute/sting/commandline/CommandLineProgram.java b/public/java/src/org/broadinstitute/sting/commandline/CommandLineProgram.java index 9e1be5bca..15ec9dfe5 100644 --- a/public/java/src/org/broadinstitute/sting/commandline/CommandLineProgram.java +++ b/public/java/src/org/broadinstitute/sting/commandline/CommandLineProgram.java @@ -287,8 +287,8 @@ public abstract class CommandLineProgram { * a function used to indicate an error occurred in the command line tool */ private static void printDocumentationReference() { - errorPrintf("Visit our wiki for extensive documentation http://www.broadinstitute.org/gsa/wiki%n"); - errorPrintf("Visit our forum to view answers to commonly asked questions http://getsatisfaction.com/gsa%n"); + errorPrintf("Visit our website and forum for extensive documentation and answers to %n"); + errorPrintf("commonly asked questions http://www.broadinstitute.org/gatk%n"); } @@ -369,9 +369,9 @@ public abstract class CommandLineProgram { System.exit(1); } - public static void exitSystemWithSamError(final Exception e) { - if ( e.getMessage() == null ) - throw new ReviewedStingException("SamException found with no message!", e); + public static void exitSystemWithSamError(final Throwable t) { + if ( t.getMessage() == null ) + throw new ReviewedStingException("SamException found with no message!", t); errorPrintf("------------------------------------------------------------------------------------------%n"); errorPrintf("A BAM ERROR has occurred (version %s): %n", CommandLineGATK.getVersionNumber()); @@ -383,7 +383,7 @@ public abstract class CommandLineProgram { errorPrintf("Also, please ensure that your BAM index is not corrupted: delete the current one and regenerate it with 'samtools index'%n"); printDocumentationReference(); errorPrintf("%n"); - errorPrintf("MESSAGE: %s%n", e.getMessage().trim()); + errorPrintf("MESSAGE: %s%n", t.getMessage().trim()); errorPrintf("------------------------------------------------------------------------------------------%n"); System.exit(1); } diff --git a/public/java/src/org/broadinstitute/sting/commandline/IntervalBinding.java b/public/java/src/org/broadinstitute/sting/commandline/IntervalBinding.java index d1d616c97..3ad84c9a5 100644 --- a/public/java/src/org/broadinstitute/sting/commandline/IntervalBinding.java +++ b/public/java/src/org/broadinstitute/sting/commandline/IntervalBinding.java @@ -25,19 +25,18 @@ package org.broadinstitute.sting.commandline; import com.google.java.contract.Requires; +import org.broad.tribble.AbstractFeatureReader; import org.broad.tribble.Feature; import org.broad.tribble.FeatureCodec; -import org.broad.tribble.readers.AsciiLineReader; +import org.broad.tribble.FeatureReader; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.refdata.ReferenceDependentFeatureCodec; import org.broadinstitute.sting.gatk.refdata.tracks.FeatureManager; import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.interval.IntervalUtils; -import java.io.File; -import java.io.FileInputStream; -import java.io.IOException; import java.util.*; /** @@ -71,39 +70,31 @@ public final class IntervalBinding { return stringIntervals; } - public List getIntervals(GenomeAnalysisEngine toolkit) { + public List getIntervals(final GenomeAnalysisEngine toolkit) { + return getIntervals(toolkit.getGenomeLocParser()); + } + + public List getIntervals(final GenomeLocParser genomeLocParser) { List intervals; if ( featureIntervals != null ) { intervals = new ArrayList(); - //RMDTrackBuilder builder = new RMDTrackBuilder(toolkit.getReferenceDataSource().getReference().getSequenceDictionary(), - // toolkit.getGenomeLocParser(), - // toolkit.getArguments().unsafe); - // TODO -- after ROD system cleanup, go through the ROD system so that we can handle things like gzipped files final FeatureCodec codec = new FeatureManager().getByName(featureIntervals.getTribbleType()).getCodec(); if ( codec instanceof ReferenceDependentFeatureCodec ) - ((ReferenceDependentFeatureCodec)codec).setGenomeLocParser(toolkit.getGenomeLocParser()); + ((ReferenceDependentFeatureCodec)codec).setGenomeLocParser(genomeLocParser); try { - final FileInputStream fis = new FileInputStream(new File(featureIntervals.getSource())); - final AsciiLineReader lineReader = new AsciiLineReader(fis); - codec.readHeader(lineReader); - String line = lineReader.readLine(); - while ( line != null ) { - final Feature feature = codec.decodeLoc(line); - if ( feature == null ) - throw new UserException.MalformedFile(featureIntervals.getSource(), "Couldn't parse line '" + line + "'"); - intervals.add(toolkit.getGenomeLocParser().createGenomeLoc(feature)); - line = lineReader.readLine(); - } + FeatureReader reader = AbstractFeatureReader.getFeatureReader(featureIntervals.getSource(), codec, false); + for ( Feature feature : reader.iterator() ) + intervals.add(genomeLocParser.createGenomeLoc(feature)); } catch (Exception e) { throw new UserException.MalformedFile(featureIntervals.getSource(), "Problem reading the interval file", e); } } else { - intervals = IntervalUtils.parseIntervalArguments(toolkit.getGenomeLocParser(), stringIntervals); + intervals = IntervalUtils.parseIntervalArguments(genomeLocParser, stringIntervals); } return intervals; diff --git a/public/java/src/org/broadinstitute/sting/commandline/ParsingMethod.java b/public/java/src/org/broadinstitute/sting/commandline/ParsingMethod.java index 452309e89..26af49e12 100755 --- a/public/java/src/org/broadinstitute/sting/commandline/ParsingMethod.java +++ b/public/java/src/org/broadinstitute/sting/commandline/ParsingMethod.java @@ -78,24 +78,7 @@ public abstract class ParsingMethod { String argument = matcher.group(1).trim(); - Tags tags = new Tags(); - if(matcher.group(2) != null) { - for(String tag: Utils.split(matcher.group(2),",")) { - // Check for presence of an '=' sign, indicating a key-value pair in the tag line. - int equalDelimiterPos = tag.indexOf('='); - if(equalDelimiterPos >= 0) { - // Sanity check; ensure that there aren't multiple '=' in this key-value pair. - if(tag.indexOf('=',equalDelimiterPos+1) >= 0) - throw new ArgumentException(String.format("Tag %s passed to argument %s is malformed. Please ensure that " + - "key-value tags are of the form =, and neither key " + - "nor value contain the '=' character", tag, argument)); - tags.addKeyValueTag(tag.substring(0,equalDelimiterPos),tag.substring(equalDelimiterPos+1)); - } - else - tags.addPositionalTag(tag); - - } - } + Tags tags = parseTags(argument, matcher.group(2)); // Find the most appropriate argument definition for the given argument. ArgumentDefinition argumentDefinition = definitions.findArgumentDefinition( argument, definitionMatcher ); @@ -105,6 +88,28 @@ public abstract class ParsingMethod { return new ArgumentMatch(argument,argumentDefinition,position,tags); } + public static Tags parseTags(String argument, String tagString) { + Tags tags = new Tags(); + if (tagString != null) { + for(String tag: Utils.split(tagString, ",")) { + // Check for presence of an '=' sign, indicating a key-value pair in the tag line. + int equalDelimiterPos = tag.indexOf('='); + if(equalDelimiterPos >= 0) { + // Sanity check; ensure that there aren't multiple '=' in this key-value pair. + if(tag.indexOf('=',equalDelimiterPos+1) >= 0) + throw new ArgumentException(String.format("Tag %s passed to argument %s is malformed. Please ensure that " + + "key-value tags are of the form =, and neither key " + + "nor value contain the '=' character", tag, argument)); + tags.addKeyValueTag(tag.substring(0,equalDelimiterPos),tag.substring(equalDelimiterPos+1)); + } + else + tags.addPositionalTag(tag); + + } + } + return tags; + } + /** * A command-line argument always starts with an alphabetical character or underscore followed by any word character. */ diff --git a/public/java/src/org/broadinstitute/sting/gatk/Categorize.java b/public/java/src/org/broadinstitute/sting/gatk/Categorize.java new file mode 100644 index 000000000..b8a222983 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/Categorize.java @@ -0,0 +1,38 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk; + +import java.lang.annotation.*; + +/** + * Allows the walker to be tagged, they can have an unlimited number of categories. + */ +@Documented +@Inherited +@Retention(RetentionPolicy.RUNTIME) +@Target(ElementType.TYPE) +public @interface Categorize { + public Category[] value() default {Category.UNCATEGORIZED}; +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/Category.java b/public/java/src/org/broadinstitute/sting/gatk/Category.java new file mode 100644 index 000000000..d1f890f95 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/Category.java @@ -0,0 +1,68 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk; + +public enum Category { + + BAM_PROCESSING("Walker", "BAM Processing and Analysis Tools"), + + COMPANION("Walker", "Companion Utilities"), + + CANCER_SPECIFIC("Walker", "Cancer-specific Variant Discovery Tools"), + + QUALITY_CONTROL("Walker", "Quality Control and Simple Analysis Tools"), + + VALIDATION("Walker", "Validation Utilities"), + + VARIANT_DETECTION("ex", "Variant Detection"), + + VARIANT_DISCOVERY("Walker", "Variant Discovery Tools"), + + VARIANT_EVALUATION("Walker", "Variant Evaluation and Manipulation Tools"), + + EXPERIMENTAL("Walker", "Miscellaneous Experimental (and Potentially Unstable) Tools"), + + UNCATEGORIZED("all", "No category"); + + private final String description; + + /** + * Accepted strings are from the GATKDocWorkUnit.group + */ + private final String type; + + private Category(String type, String description) { + this.description = description; + this.type = type; + } + + public String type() { + return type; + } + + public String getDescription() { + return description; + } +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/CommandLineGATK.java b/public/java/src/org/broadinstitute/sting/gatk/CommandLineGATK.java index 70c6bc734..d8674c606 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/CommandLineGATK.java +++ b/public/java/src/org/broadinstitute/sting/gatk/CommandLineGATK.java @@ -36,7 +36,9 @@ import org.broadinstitute.sting.gatk.refdata.tracks.FeatureManager; import org.broadinstitute.sting.gatk.walkers.Attribution; import org.broadinstitute.sting.gatk.walkers.Walker; import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.help.*; +import org.broadinstitute.sting.utils.help.ApplicationDetails; +import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.GATKDocUtils; import org.broadinstitute.sting.utils.text.TextFormattingUtils; import java.util.*; @@ -101,20 +103,35 @@ public class CommandLineGATK extends CommandLineExecutable { // TODO: Should Picard exceptions be, in general, UserExceptions or ReviewedStingExceptions? exitSystemWithError(e); } catch (SAMException e) { - checkForTooManyOpenFilesProblem(e.getMessage()); + checkForMaskedUserErrors(e); exitSystemWithSamError(e); } catch (OutOfMemoryError e) { exitSystemWithUserError(new UserException.NotEnoughMemory()); } catch (Throwable t) { - checkForTooManyOpenFilesProblem(t.getMessage()); + checkForMaskedUserErrors(t); exitSystemWithError(t); } } - private static void checkForTooManyOpenFilesProblem(String message) { - // Special case the "Too many open files" error because it's a common User Error for which we know what to do - if ( message != null && message.indexOf("Too many open files") != -1 ) + protected static final String PICARD_TEXT_SAM_FILE_ERROR_1 = "Cannot use index file with textual SAM file"; + protected static final String PICARD_TEXT_SAM_FILE_ERROR_2 = "Cannot retrieve file pointers within SAM text files"; + private static void checkForMaskedUserErrors(final Throwable t) { + final String message = t.getMessage(); + if ( message == null ) + return; + + // we know what to do about the common "Too many open files" error + if ( message.indexOf("Too many open files") != -1 ) exitSystemWithUserError(new UserException.TooManyOpenFiles()); + + // malformed BAM looks like a SAM file + if ( message.indexOf(PICARD_TEXT_SAM_FILE_ERROR_1) != -1 || + message.indexOf(PICARD_TEXT_SAM_FILE_ERROR_2) != -1 ) + exitSystemWithSamError(t); + + // can't close tribble index when writing + if ( message.indexOf("Unable to close index for") != -1 ) + exitSystemWithUserError(new UserException(t.getCause().getMessage())); } /** @@ -126,8 +143,7 @@ public class CommandLineGATK extends CommandLineExecutable { List header = new ArrayList(); header.add(String.format("The Genome Analysis Toolkit (GATK) v%s, Compiled %s",getVersionNumber(), getBuildTime())); header.add("Copyright (c) 2010 The Broad Institute"); - header.add("Please view our documentation at http://www.broadinstitute.org/gsa/wiki"); - header.add("For support, please view our support site at http://getsatisfaction.com/gsa"); + header.add("For support and documentation go to http://www.broadinstitute.org/gatk"); return header; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java b/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java index 039ca565a..8dfa89083 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java +++ b/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java @@ -30,7 +30,7 @@ import net.sf.samtools.SAMFileHeader; import net.sf.samtools.SAMRecord; import net.sf.samtools.SAMSequenceDictionary; import org.apache.log4j.Logger; -import org.broad.tribble.Feature; +import org.broad.tribble.readers.PositionalBufferedStream; import org.broadinstitute.sting.commandline.*; import org.broadinstitute.sting.gatk.arguments.GATKArgumentCollection; import org.broadinstitute.sting.gatk.arguments.ValidationExclusion; @@ -51,13 +51,19 @@ import org.broadinstitute.sting.gatk.samples.SampleDBBuilder; import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.utils.*; import org.broadinstitute.sting.utils.baq.BAQ; +import org.broadinstitute.sting.utils.classloader.GATKLiteUtils; +import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.interval.IntervalSetRule; import org.broadinstitute.sting.utils.interval.IntervalUtils; import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; +import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder; import java.io.File; +import java.io.FileInputStream; +import java.io.IOException; import java.util.*; /** @@ -192,7 +198,16 @@ public class GenomeAnalysisEngine { private BaseRecalibration baseRecalibration = null; public BaseRecalibration getBaseRecalibration() { return baseRecalibration; } public boolean hasBaseRecalibration() { return baseRecalibration != null; } - public void setBaseRecalibration(File recalFile, int quantizationLevels) { baseRecalibration = new BaseRecalibration(recalFile, quantizationLevels); } + public void setBaseRecalibration(final File recalFile, final int quantizationLevels, final boolean disableIndelQuals, final int preserveQLessThan, final boolean emitOriginalQuals) { + baseRecalibration = new BaseRecalibration(recalFile, quantizationLevels, disableIndelQuals, preserveQLessThan, emitOriginalQuals); + } + + /** + * Utility method to determine whether this is the lite version of the GATK + */ + public boolean isGATKLite() { + return GATKLiteUtils.isGATKLite(); + } /** * Actually run the GATK with the specified walker. @@ -204,8 +219,10 @@ public class GenomeAnalysisEngine { //monitor.start(); setStartTime(new java.util.Date()); + final GATKArgumentCollection args = this.getArguments(); + // validate our parameters - if (this.getArguments() == null) { + if (args == null) { throw new ReviewedStingException("The GATKArgumentCollection passed to GenomeAnalysisEngine can not be null."); } @@ -213,12 +230,16 @@ public class GenomeAnalysisEngine { if (this.walker == null) throw new ReviewedStingException("The walker passed to GenomeAnalysisEngine can not be null."); - if (this.getArguments().nonDeterministicRandomSeed) + if (args.nonDeterministicRandomSeed) resetRandomGenerator(System.currentTimeMillis()); + // TODO -- REMOVE ME WHEN WE STOP BCF testing + if ( args.USE_SLOW_GENOTYPES ) + GenotypeBuilder.MAKE_FAST_BY_DEFAULT = false; + // if the use specified an input BQSR recalibration table then enable on the fly recalibration - if (this.getArguments().BQSR_RECAL_FILE != null) - setBaseRecalibration(this.getArguments().BQSR_RECAL_FILE, this.getArguments().quantizationLevels); + if (args.BQSR_RECAL_FILE != null) + setBaseRecalibration(args.BQSR_RECAL_FILE, args.quantizationLevels, args.disableIndelQuals, args.PRESERVE_QSCORES_LESS_THAN, args.emitOriginalQuals); // Determine how the threads should be divided between CPU vs. IO. determineThreadAllocation(); @@ -572,7 +593,6 @@ public class GenomeAnalysisEngine { * Setup the intervals to be processed */ protected void initializeIntervals() { - // return if no interval arguments at all if ( argCollection.intervals == null && argCollection.excludeIntervals == null ) return; @@ -580,17 +600,22 @@ public class GenomeAnalysisEngine { // Note that the use of '-L all' is no longer supported. // if include argument isn't given, create new set of all possible intervals - GenomeLocSortedSet includeSortedSet = (argCollection.intervals == null ? - GenomeLocSortedSet.createSetFromSequenceDictionary(this.referenceDataSource.getReference().getSequenceDictionary()) : - loadIntervals(argCollection.intervals, argCollection.intervalSetRule)); + + Pair includeExcludePair = IntervalUtils.parseIntervalBindingsPair( + this.referenceDataSource, + argCollection.intervals, + argCollection.intervalSetRule, argCollection.intervalMerging, argCollection.intervalPadding, + argCollection.excludeIntervals); + + GenomeLocSortedSet includeSortedSet = includeExcludePair.getFirst(); + GenomeLocSortedSet excludeSortedSet = includeExcludePair.getSecond(); // if no exclude arguments, can return parseIntervalArguments directly - if ( argCollection.excludeIntervals == null ) + if ( excludeSortedSet == null ) intervals = includeSortedSet; // otherwise there are exclude arguments => must merge include and exclude GenomeLocSortedSets else { - GenomeLocSortedSet excludeSortedSet = loadIntervals(argCollection.excludeIntervals, IntervalSetRule.UNION); intervals = includeSortedSet.subtractRegions(excludeSortedSet); // logging messages only printed when exclude (-XL) arguments are given @@ -603,28 +628,6 @@ public class GenomeAnalysisEngine { } } - /** - * Loads the intervals relevant to the current execution - * @param argList argument bindings; might include filenames, intervals in samtools notation, or a combination of the above - * @param rule interval merging rule - * @return A sorted, merged list of all intervals specified in this arg list. - */ - protected GenomeLocSortedSet loadIntervals( List> argList, IntervalSetRule rule ) { - - List allIntervals = new ArrayList(); - for ( IntervalBinding intervalBinding : argList ) { - List intervals = intervalBinding.getIntervals(this); - - if ( intervals.isEmpty() ) { - logger.warn("The interval file " + intervalBinding.getSource() + " contains no intervals that could be parsed."); - } - - allIntervals = IntervalUtils.mergeListsBySetOperator(intervals, allIntervals, rule); - } - - return IntervalUtils.sortAndMergeIntervals(genomeLocParser, allIntervals, argCollection.intervalMerging); - } - /** * Add additional, externally managed IO streams for inputs. * @@ -795,7 +798,18 @@ public class GenomeAnalysisEngine { SAMSequenceDictionary sequenceDictionary, GenomeLocParser genomeLocParser, ValidationExclusion.TYPE validationExclusionType) { - RMDTrackBuilder builder = new RMDTrackBuilder(sequenceDictionary,genomeLocParser,validationExclusionType); + VCFHeader header = null; + if ( getArguments().repairVCFHeader != null ) { + try { + final PositionalBufferedStream pbs = new PositionalBufferedStream(new FileInputStream(getArguments().repairVCFHeader)); + header = (VCFHeader)new VCFCodec().readHeader(pbs).getHeaderValue(); + pbs.close(); + } catch ( IOException e ) { + throw new UserException.CouldNotReadInputFile(getArguments().repairVCFHeader, e); + } + } + + RMDTrackBuilder builder = new RMDTrackBuilder(sequenceDictionary,genomeLocParser, header, validationExclusionType); List dataSources = new ArrayList(); for (RMDTriplet fileDescriptor : referenceMetaDataFiles) @@ -819,6 +833,15 @@ public class GenomeAnalysisEngine { return readsDataSource.getHeader(); } + public boolean lenientVCFProcessing() { + return lenientVCFProcessing(argCollection.unsafe); + } + + public static boolean lenientVCFProcessing(final ValidationExclusion.TYPE val) { + return val == ValidationExclusion.TYPE.ALL + || val == ValidationExclusion.TYPE.LENIENT_VCF_PROCESSING; + } + /** * Returns the unmerged SAM file header for an individual reader. * @param reader The reader. diff --git a/public/java/src/org/broadinstitute/sting/gatk/ReadProperties.java b/public/java/src/org/broadinstitute/sting/gatk/ReadProperties.java index dc77df071..e02b9d5af 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/ReadProperties.java +++ b/public/java/src/org/broadinstitute/sting/gatk/ReadProperties.java @@ -51,11 +51,6 @@ public class ReadProperties { return includeReadsWithDeletionAtLoci; } - @Deprecated - public boolean generateExtendedEvents() { - return false; - } - /** * Gets a list of the files acting as sources of reads. * @return A list of files storing reads data. diff --git a/public/java/src/org/broadinstitute/sting/gatk/WalkerManager.java b/public/java/src/org/broadinstitute/sting/gatk/WalkerManager.java index f053c299c..8843d4bfe 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/WalkerManager.java +++ b/public/java/src/org/broadinstitute/sting/gatk/WalkerManager.java @@ -49,7 +49,7 @@ public class WalkerManager extends PluginManager { private ResourceBundle helpText; public WalkerManager() { - super(Walker.class,"walker","Walker"); + super(Walker.class,"walker",""); helpText = TextFormattingUtils.loadResourceBundle("StingText"); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/arguments/GATKArgumentCollection.java b/public/java/src/org/broadinstitute/sting/gatk/arguments/GATKArgumentCollection.java index 3a1408d59..3fd3857c5 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/arguments/GATKArgumentCollection.java +++ b/public/java/src/org/broadinstitute/sting/gatk/arguments/GATKArgumentCollection.java @@ -35,6 +35,7 @@ import org.broadinstitute.sting.gatk.DownsampleType; import org.broadinstitute.sting.gatk.DownsamplingMethod; import org.broadinstitute.sting.gatk.phonehome.GATKRunReport; import org.broadinstitute.sting.gatk.samples.PedigreeValidationType; +import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.baq.BAQ; import org.broadinstitute.sting.utils.interval.IntervalMergingRule; import org.broadinstitute.sting.utils.interval.IntervalSetRule; @@ -104,6 +105,12 @@ public class GATKArgumentCollection { @Argument(fullName = "interval_merging", shortName = "im", doc = "Indicates the interval merging rule we should use for abutting intervals", required = false) public IntervalMergingRule intervalMerging = IntervalMergingRule.ALL; + /** + * For example, '-L chr1:100' with a padding value of 20 would turn into '-L chr1:80-120'. + */ + @Argument(fullName = "interval_padding", shortName = "ip", doc = "Indicates how many basepairs of padding to include around each of the intervals specified with the -L/--intervals argument", required = false) + public int intervalPadding = 0; + @Input(fullName = "reference_sequence", shortName = "R", doc = "Reference sequence file", required = false) public File referenceFile = null; @@ -184,28 +191,61 @@ public class GATKArgumentCollection { @Argument(fullName="useOriginalQualities", shortName = "OQ", doc = "If set, use the original base quality scores from the OQ tag when present instead of the standard scores", required=false) public Boolean useOriginalBaseQualities = false; + // -------------------------------------------------------------------------------------------------------------- + // + // BQSR arguments + // + // -------------------------------------------------------------------------------------------------------------- + /** - * After the header, data records occur one per line until the end of the file. The first several items on a line are the - * values of the individual covariates and will change depending on which covariates were specified at runtime. The last - * three items are the data- that is, number of observations for this combination of covariates, number of reference mismatches, - * and the raw empirical quality score calculated by phred-scaling the mismatch rate. + * Enables on-the-fly recalibrate of base qualities. The covariates tables are produced by the BaseQualityScoreRecalibrator tool. + * Please be aware that one should only run recalibration with the covariates file created on the same input bam(s). */ - @Input(fullName="BQSR", shortName="BQSR", required=false, doc="Filename for the input covariates table recalibration .csv file which enables on the fly base quality score recalibration") - public File BQSR_RECAL_FILE = null; // BUGBUG: need a better argument name once we decide how BQSRs v1 and v2 will live in the code base simultaneously + @Input(fullName="BQSR", shortName="BQSR", required=false, doc="The input covariates table file which enables on-the-fly base quality score recalibration") + public File BQSR_RECAL_FILE = null; /** * Turns on the base quantization module. It requires a recalibration report (-BQSR). * * A value of 0 here means "do not quantize". - * Any value greater than zero will be used to recalculate the quantization using this many levels. - * Negative values do nothing (i.e. quantize using the recalibration report's quantization level -- same as not providing this parameter at all) + * Any value greater than zero will be used to recalculate the quantization using that many levels. + * Negative values mean that we should quantize using the recalibration report's quantization level. */ - @Argument(fullName="quantize_quals", shortName = "qq", doc = "Quantize quality scores to a given number of levels.", required=false) - public int quantizationLevels = -1; + @Hidden + @Argument(fullName="quantize_quals", shortName = "qq", doc = "Quantize quality scores to a given number of levels (with -BQSR)", required=false) + public int quantizationLevels = 0; + + /** + * Turns off printing of the base insertion and base deletion tags when using the -BQSR argument and only the base substitution qualities will be produced. + */ + @Argument(fullName="disable_indel_quals", shortName = "DIQ", doc = "If true, disables printing of base insertion and base deletion tags (with -BQSR)", required=false) + public boolean disableIndelQuals = false; + + /** + * By default, the OQ tag in not emitted when using the -BQSR argument. + */ + @Argument(fullName="emit_original_quals", shortName = "EOQ", doc = "If true, enables printing of the OQ tag with the original base qualities (with -BQSR)", required=false) + public boolean emitOriginalQuals = false; + + /** + * Do not modify quality scores less than this value but rather just write them out unmodified in the recalibrated BAM file. + * In general it's unsafe to change qualities scores below < 6, since base callers use these values to indicate random or bad bases. + * For example, Illumina writes Q2 bases when the machine has really gone wrong. This would be fine in and of itself, + * but when you select a subset of these reads based on their ability to align to the reference and their dinucleotide effect, + * your Q2 bin can be elevated to Q8 or Q10, leading to issues downstream. + */ + @Argument(fullName = "preserve_qscores_less_than", shortName = "preserveQ", doc = "Bases with quality scores less than this threshold won't be recalibrated (with -BQSR)", required = false) + public int PRESERVE_QSCORES_LESS_THAN = QualityUtils.MIN_USABLE_Q_SCORE; @Argument(fullName="defaultBaseQualities", shortName = "DBQ", doc = "If reads are missing some or all base quality scores, this value will be used for all base quality scores", required=false) public byte defaultBaseQualities = -1; + // -------------------------------------------------------------------------------------------------------------- + // + // Other utility arguments + // + // -------------------------------------------------------------------------------------------------------------- + @Argument(fullName = "validation_strictness", shortName = "S", doc = "How strict should we be with validation", required = false) public SAMFileReader.ValidationStringency strictnessLevel = SAMFileReader.ValidationStringency.SILENT; @@ -327,112 +367,27 @@ public class GATKArgumentCollection { // -------------------------------------------------------------------------------------------------------------- // - // methods + // testing BCF2 // // -------------------------------------------------------------------------------------------------------------- + @Argument(fullName="generateShadowBCF",shortName = "generateShadowBCF",doc="If provided, whenever we create a VCFWriter we will also write out a BCF file alongside it, for testing purposes",required=false) + @Hidden + public boolean generateShadowBCF = false; + // TODO -- remove all code tagged with TODO -- remove me when argument generateShadowBCF is removed + + @Argument(fullName="useSlowGenotypes",shortName = "useSlowGenotypes",doc="",required=false) + @Hidden + public boolean USE_SLOW_GENOTYPES = false; + // TODO -- remove all code tagged with TODO -- remove me when argument generateShadowBCF is removed + /** - * test equality between two arg collections. This function defines the statement: - * "not fun to write" - * - * @param other the other collection - * - * @return true if they're equal + * The file pointed to by this argument must be a VCF file. The GATK will read in just the header of this file + * and then use the INFO, FORMAT, and FILTER field values from this file to repair the header file of any other + * VCF file that GATK reads in. This allows us to have in effect a master set of header records and use these + * to fill in any missing ones in input VCF files. */ - public boolean equals(GATKArgumentCollection other) { - if (other == null) return false; - if (other.samFiles.size() != samFiles.size()) { - return false; - } - for (int x = 0; x < samFiles.size(); x++) { - if (!samFiles.get(x).equals(other.samFiles.get(x))) { - return false; - } - } - if (other.walkerArgs.size() != walkerArgs.size()) { - return false; - } - for (String s : walkerArgs.keySet()) { - if (!other.walkerArgs.containsKey(s)) { - return false; - } - } - if (!other.samFiles.equals(this.samFiles)) { - return false; - } - if(other.readBufferSize == null || this.readBufferSize == null) { - // If either is null, return false if they're both null, otherwise keep going... - if(other.readBufferSize != null || this.readBufferSize != null) - return false; - } - else { - if(!other.readBufferSize.equals(this.readBufferSize)) - return false; - } - if (!(other.readBufferSize == null && this.readBufferSize == null) && (other.readBufferSize == null || this.readBufferSize == null)) { - return false; - } - if (!other.strictnessLevel.equals(this.strictnessLevel)) { - return false; - } - if (!other.referenceFile.equals(this.referenceFile)) { - return false; - } - if ((other.intervals == null && this.intervals != null) || !other.intervals.equals(this.intervals)) { - return false; - } - if (!other.excludeIntervals.equals(this.excludeIntervals)) { - return false; - } - if (!other.unsafe.equals(this.unsafe)) { - return false; - } - if ((other.downsampleFraction == null && this.downsampleFraction != null) || - (other.downsampleFraction != null && !other.downsampleFraction.equals(this.downsampleFraction))) { - return false; - } - if ((other.downsampleCoverage == null && this.downsampleCoverage != null) || - (other.downsampleCoverage != null && !other.downsampleCoverage.equals(this.downsampleCoverage))) { - return false; - } - if (!other.numberOfThreads.equals(this.numberOfThreads)) { - return false; - } - if ((this.numberOfCPUThreads == null && other.numberOfCPUThreads != null) || - this.numberOfCPUThreads.equals(other.numberOfCPUThreads) ) { - return false; - } - if ((this.numberOfIOThreads == null && other.numberOfIOThreads != null) || - this.numberOfIOThreads.equals(other.numberOfIOThreads) ) { - return false; - } - if ((other.numberOfBAMFileHandles == null && this.numberOfBAMFileHandles != null) || - (other.numberOfBAMFileHandles != null && !other.numberOfBAMFileHandles.equals(this.numberOfBAMFileHandles))) { - return false; - } - if (other.intervalMerging != this.intervalMerging) { - return false; - } - - if (other.phoneHomeType != this.phoneHomeType) { - return false; - } - - if (intervalSetRule != other.intervalSetRule) - return false; - - if ( BAQMode != other.BAQMode ) return false; - if ( BAQGOP != other.BAQGOP ) return false; - - if ((other.performanceLog == null && this.performanceLog != null) || - (other.performanceLog != null && !other.performanceLog.equals(this.performanceLog))) - return false; - - if (allowIntervalsWithUnindexedBAM != other.allowIntervalsWithUnindexedBAM) - return false; - - return true; - } - + @Argument(fullName="repairVCFHeader", shortName = "repairVCFHeader", doc="If provided, whenever we read a VCF file we will use the header in this file to repair the header of the input VCF files", required=false) + public File repairVCFHeader = null; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/arguments/ValidationExclusion.java b/public/java/src/org/broadinstitute/sting/gatk/arguments/ValidationExclusion.java index 577f7929a..52c77326a 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/arguments/ValidationExclusion.java +++ b/public/java/src/org/broadinstitute/sting/gatk/arguments/ValidationExclusion.java @@ -40,6 +40,7 @@ public class ValidationExclusion { ALLOW_UNSET_BAM_SORT_ORDER, // assume that the bam is sorted, even if the SO (sort-order) flag is not set NO_READ_ORDER_VERIFICATION, // do not validate that the reads are in order as we take them from the bam file ALLOW_SEQ_DICT_INCOMPATIBILITY, // allow dangerous, but not fatal, sequence dictionary incompabilities + LENIENT_VCF_PROCESSING, // allow non-standard values for standard VCF header lines. Don't worry about size differences between header and values, etc. @EnumerationArgumentDefault // set the ALL value to the default value, so if they specify just -U, we get the ALL ALL // do not check for all of the above conditions, DEFAULT } diff --git a/public/java/src/org/broadinstitute/sting/gatk/contexts/AlignmentContext.java b/public/java/src/org/broadinstitute/sting/gatk/contexts/AlignmentContext.java index 9a847d38e..dc26982ef 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/contexts/AlignmentContext.java +++ b/public/java/src/org/broadinstitute/sting/gatk/contexts/AlignmentContext.java @@ -28,7 +28,6 @@ package org.broadinstitute.sting.gatk.contexts; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.HasGenomeLocation; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; -import org.broadinstitute.sting.utils.pileup.ReadBackedExtendedEventPileup; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; @@ -89,36 +88,9 @@ public class AlignmentContext implements HasGenomeLocation { * @return */ public ReadBackedPileup getBasePileup() { - if(!hasBasePileup()) - throw new ReviewedStingException("No base pileup is available. Please check for a base pileup with hasBasePileup() before attempting to retrieve a pileup."); return basePileup; } - /** Returns extended event (indel) pileup over the current genomic location. May return null if this context keeps - * only base pileup. - * @return - */ - @Deprecated - public ReadBackedExtendedEventPileup getExtendedEventPileup() { - if(!hasExtendedEventPileup()) - throw new ReviewedStingException("No extended event pileup is present."); - return (ReadBackedExtendedEventPileup)basePileup; - } - - /** - * Returns true if this alignment context keeps base pileup over the current genomic location. - * TODO: Syntax of AlignmentContext uses hasBasePileup() / hasExtendedEventPileup() as an enumeration mechanism. Change this to a more sensible interface. - * @return - */ - public boolean hasBasePileup() { return !(basePileup instanceof ReadBackedExtendedEventPileup); } - - /** Returns true if this alignment context keeps extended event (indel) pileup over the current genomic location. - * - * @return - */ - @Deprecated - public boolean hasExtendedEventPileup() { return basePileup instanceof ReadBackedExtendedEventPileup; } - /** * Returns true if any reads have been filtered out of the pileup due to excess DoC. * @return True if reads have been filtered out. False otherwise. diff --git a/public/java/src/org/broadinstitute/sting/gatk/contexts/AlignmentContextUtils.java b/public/java/src/org/broadinstitute/sting/gatk/contexts/AlignmentContextUtils.java index d589f9029..c1870b785 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/contexts/AlignmentContextUtils.java +++ b/public/java/src/org/broadinstitute/sting/gatk/contexts/AlignmentContextUtils.java @@ -116,19 +116,15 @@ public class AlignmentContextUtils { * **/ public static Map splitContextByReadGroup(AlignmentContext context, Collection readGroups) { - if ( ! context.hasBasePileup() ) { - return Collections.emptyMap(); - } else { - HashMap contexts = new HashMap(); + HashMap contexts = new HashMap(); - for (SAMReadGroupRecord rg : readGroups) { - ReadBackedPileup rgPileup = context.getBasePileup().getPileupForReadGroup(rg.getReadGroupId()); - if ( rgPileup != null ) // there we some reads for RG - contexts.put(rg, new AlignmentContext(context.getLocation(), rgPileup)); - } - - return contexts; + for (SAMReadGroupRecord rg : readGroups) { + ReadBackedPileup rgPileup = context.getBasePileup().getPileupForReadGroup(rg.getReadGroupId()); + if ( rgPileup != null ) // there we some reads for RG + contexts.put(rg, new AlignmentContext(context.getLocation(), rgPileup)); } + + return contexts; } public static Map splitContextBySampleName(ReadBackedPileup pileup) { @@ -139,32 +135,16 @@ public class AlignmentContextUtils { public static AlignmentContext joinContexts(Collection contexts) { // validation GenomeLoc loc = contexts.iterator().next().getLocation(); - boolean isExtended = contexts.iterator().next().basePileup instanceof ReadBackedExtendedEventPileup; for(AlignmentContext context: contexts) { if(!loc.equals(context.getLocation())) throw new ReviewedStingException("Illegal attempt to join contexts from different genomic locations"); - if(isExtended != (context.basePileup instanceof ReadBackedExtendedEventPileup)) - throw new ReviewedStingException("Illegal attempt to join simple and extended contexts"); } - AlignmentContext jointContext; - if(isExtended) { - List pe = new ArrayList(); - for(AlignmentContext context: contexts) { - for(PileupElement pileupElement: context.basePileup) - pe.add((ExtendedEventPileupElement)pileupElement); - } - jointContext = new AlignmentContext(loc, new ReadBackedExtendedEventPileupImpl(loc,pe)); + List pe = new ArrayList(); + for(AlignmentContext context: contexts) { + for(PileupElement pileupElement: context.basePileup) + pe.add(pileupElement); } - else { - List pe = new ArrayList(); - for(AlignmentContext context: contexts) { - for(PileupElement pileupElement: context.basePileup) - pe.add(pileupElement); - } - jointContext = new AlignmentContext(loc, new ReadBackedPileupImpl(loc,pe)); - } - - return jointContext; + return new AlignmentContext(loc, new ReadBackedPileupImpl(loc,pe)); } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/BAMScheduler.java b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/BAMScheduler.java index fdc3d2aa7..ebfef5dc1 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/BAMScheduler.java +++ b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/BAMScheduler.java @@ -27,13 +27,12 @@ package org.broadinstitute.sting.gatk.datasources.reads; import net.sf.picard.util.PeekableIterator; import net.sf.samtools.GATKBAMFileSpan; import net.sf.samtools.GATKChunk; -import net.sf.samtools.SAMFileHeader; -import net.sf.samtools.SAMFileSpan; import net.sf.samtools.SAMSequenceDictionary; import net.sf.samtools.SAMSequenceRecord; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.GenomeLocSortedSet; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.sam.ReadUtils; @@ -265,7 +264,10 @@ public class BAMScheduler implements Iterator { // Naive algorithm: find all elements in current contig for proper schedule creation. List lociInContig = new LinkedList(); for(GenomeLoc locus: loci) { - if(!GenomeLoc.isUnmapped(locus) && dataSource.getHeader().getSequence(locus.getContig()).getSequenceIndex() == lastReferenceSequenceLoaded) + if (!GenomeLoc.isUnmapped(locus) && dataSource.getHeader().getSequence(locus.getContig()) == null) + throw new ReviewedStingException("BAM file(s) do not have the contig: " + locus.getContig() + ". You are probably using a different reference than the one this file was aligned with"); + + if (!GenomeLoc.isUnmapped(locus) && dataSource.getHeader().getSequence(locus.getContig()).getSequenceIndex() == lastReferenceSequenceLoaded) lociInContig.add(locus); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndex.java b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndex.java index 2bf75b035..73301c511 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndex.java +++ b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndex.java @@ -24,6 +24,7 @@ package org.broadinstitute.sting.gatk.datasources.reads; import net.sf.samtools.*; +import org.broadinstitute.sting.gatk.CommandLineGATK; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; @@ -300,7 +301,7 @@ public class GATKBAMIndex { fileChannel = fileStream.getChannel(); } catch (IOException exc) { - throw new ReviewedStingException("Unable to open index file " + mFile, exc); + throw new ReviewedStingException("Unable to open index file (" + exc.getMessage() +")" + mFile, exc); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSource.java b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSource.java index 7f8c35c96..0fa4234b3 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSource.java +++ b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSource.java @@ -664,12 +664,12 @@ public class SAMDataSource { IndexedFastaSequenceFile refReader, BaseRecalibration bqsrApplier, byte defaultBaseQualities) { - if (useOriginalBaseQualities || defaultBaseQualities >= 0) - // only wrap if we are replacing the original qualities or using a default base quality - wrappedIterator = new ReadFormattingIterator(wrappedIterator, useOriginalBaseQualities, defaultBaseQualities); - // NOTE: this (and other filtering) should be done before on-the-fly sorting - // as there is no reason to sort something that we will end of throwing away + // *********************************************************************************** // + // * NOTE: ALL FILTERING SHOULD BE DONE BEFORE ANY ITERATORS THAT MODIFY THE READS! * // + // * (otherwise we will process something that we may end up throwing away) * // + // *********************************************************************************** // + if (downsamplingFraction != null) wrappedIterator = new DownsampleIterator(wrappedIterator, downsamplingFraction); @@ -678,14 +678,18 @@ public class SAMDataSource { if (!noValidationOfReadOrder && enableVerification) wrappedIterator = new VerifyingSamIterator(genomeLocParser,wrappedIterator); + wrappedIterator = StingSAMIteratorAdapter.adapt(new CountingFilteringIterator(readMetrics,wrappedIterator,supplementalFilters)); + + if (useOriginalBaseQualities || defaultBaseQualities >= 0) + // only wrap if we are replacing the original qualities or using a default base quality + wrappedIterator = new ReadFormattingIterator(wrappedIterator, useOriginalBaseQualities, defaultBaseQualities); + if (bqsrApplier != null) wrappedIterator = new BQSRSamIterator(wrappedIterator, bqsrApplier); if (cmode != BAQ.CalculationMode.OFF) wrappedIterator = new BAQSamIterator(refReader, wrappedIterator, cmode, qmode); - wrappedIterator = StingSAMIteratorAdapter.adapt(new CountingFilteringIterator(readMetrics,wrappedIterator,supplementalFilters)); - return wrappedIterator; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/datasources/rmd/ResourcePool.java b/public/java/src/org/broadinstitute/sting/gatk/datasources/rmd/ResourcePool.java index 21f58d480..97839e3e2 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/datasources/rmd/ResourcePool.java +++ b/public/java/src/org/broadinstitute/sting/gatk/datasources/rmd/ResourcePool.java @@ -25,6 +25,7 @@ package org.broadinstitute.sting.gatk.datasources.rmd; import net.sf.samtools.SAMSequenceDictionary; +import net.sf.samtools.util.CloseableIterator; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; @@ -33,7 +34,7 @@ import java.util.*; /** * A pool of open resources, all of which can create a closeable iterator. */ -abstract class ResourcePool { +abstract class ResourcePool { /** * Sequence dictionary. */ @@ -109,6 +110,9 @@ abstract class ResourcePool { T resource = resourceAssignments.get( iterator ); Object obj = resourceAssignments.remove(iterator); + // Close the iterator. + iterator.close(); + // make sure we actually removed the assignment if (obj == null) throw new ReviewedStingException("Failed to remove resource assignment; target key had no associated value in the resource assignment map"); diff --git a/public/java/src/org/broadinstitute/sting/gatk/downsampling/Downsampler.java b/public/java/src/org/broadinstitute/sting/gatk/downsampling/Downsampler.java new file mode 100644 index 000000000..5fb99b2bc --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/downsampling/Downsampler.java @@ -0,0 +1,76 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.downsampling; + +import java.util.Collection; +import java.util.List; + +/** + * The basic downsampler API, with no reads-specific operations + * + * @author David Roazen + */ +public interface Downsampler { + + /* + * Submit one item to the downsampler for consideration . Some downsamplers will be able to determine + * immediately whether the item survives the downsampling process, while others will need to see + * more items before making that determination. + */ + public void submit( T item ); + + /* + * Submit a collection of items to the downsampler for consideration. + */ + public void submit( Collection items ); + + /* + * Are there items that have survived the downsampling process waiting to be retrieved? + */ + public boolean hasDownsampledItems(); + + /* + * Return (and remove) all items that have survived downsampling and are waiting to be retrieved. + */ + public List consumeDownsampledItems(); + + /* + * Are there items stored in this downsampler that it doesn't yet know whether they will + * ultimately survive the downsampling process? + */ + public boolean hasPendingItems(); + + /* + * Used to tell the downsampler that no more items will be submitted to it, and that it should + * finalize any pending items. + */ + public void signalEndOfInput(); + + /* + * Reset the downsampler to a clean state, devoid of any pending/downsampled items or tracked state + * information. + */ + public void clear(); +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/downsampling/DownsamplingReadsIterator.java b/public/java/src/org/broadinstitute/sting/gatk/downsampling/DownsamplingReadsIterator.java new file mode 100644 index 000000000..bccc2e946 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/downsampling/DownsamplingReadsIterator.java @@ -0,0 +1,98 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.downsampling; + +import net.sf.samtools.SAMRecord; +import org.broadinstitute.sting.gatk.iterators.StingSAMIterator; + +import java.util.Collection; +import java.util.Iterator; +import java.util.NoSuchElementException; + + +/** + * StingSAMIterator wrapper around our generic reads downsampler interface + * + * @author David Roazen + */ +public class DownsamplingReadsIterator implements StingSAMIterator { + + private StingSAMIterator nestedSAMIterator; + private ReadsDownsampler downsampler; + private Collection downsampledReadsCache; + private Iterator downsampledReadsCacheIterator; + + public DownsamplingReadsIterator( StingSAMIterator iter, ReadsDownsampler downsampler ) { + nestedSAMIterator = iter; + this.downsampler = downsampler; + fillDownsampledReadsCache(); + } + + public boolean hasNext() { + if ( downsampledReadsCacheIterator.hasNext() ) { + return true; + } + else if ( ! nestedSAMIterator.hasNext() || ! fillDownsampledReadsCache() ) { + return false; + } + + return true; + } + + public SAMRecord next() { + if ( ! downsampledReadsCacheIterator.hasNext() && ! fillDownsampledReadsCache() ) { + throw new NoSuchElementException("next() called when there are no more items"); + } + + return downsampledReadsCacheIterator.next(); + } + + private boolean fillDownsampledReadsCache() { + while ( nestedSAMIterator.hasNext() && ! downsampler.hasDownsampledItems() ) { + downsampler.submit(nestedSAMIterator.next()); + } + + if ( ! nestedSAMIterator.hasNext() ) { + downsampler.signalEndOfInput(); + } + + downsampledReadsCache = downsampler.consumeDownsampledItems(); + downsampledReadsCacheIterator = downsampledReadsCache.iterator(); + + return downsampledReadsCacheIterator.hasNext(); + } + + public void remove() { + throw new UnsupportedOperationException("Can not remove records from a SAM file via an iterator!"); + } + + public void close() { + nestedSAMIterator.close(); + } + + public Iterator iterator() { + return this; + } +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/downsampling/FractionalDownsampler.java b/public/java/src/org/broadinstitute/sting/gatk/downsampling/FractionalDownsampler.java new file mode 100644 index 000000000..d5d529c9f --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/downsampling/FractionalDownsampler.java @@ -0,0 +1,94 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.downsampling; + +import net.sf.samtools.SAMRecord; +import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.util.ArrayList; +import java.util.Collection; +import java.util.List; + +/** + * Fractional Downsampler: selects a specified fraction of the reads for inclusion + * + * @author David Roazen + */ +public class FractionalDownsampler implements ReadsDownsampler { + + private ArrayList selectedReads; + + private int cutoffForInclusion; + + private static final int RANDOM_POOL_SIZE = 10000; + + public FractionalDownsampler( double fraction ) { + if ( fraction < 0.0 || fraction > 1.0 ) { + throw new ReviewedStingException("Fraction of reads to include must be between 0.0 and 1.0, inclusive"); + } + + cutoffForInclusion = (int)(fraction * RANDOM_POOL_SIZE); + clear(); + } + + public void submit( T newRead ) { + if ( GenomeAnalysisEngine.getRandomGenerator().nextInt(10000) < cutoffForInclusion ) { + selectedReads.add(newRead); + } + } + + public void submit( Collection newReads ) { + for ( T read : newReads ) { + submit(read); + } + } + + public boolean hasDownsampledItems() { + return selectedReads.size() > 0; + } + + public List consumeDownsampledItems() { + List downsampledItems = selectedReads; + clear(); + return downsampledItems; + } + + public boolean hasPendingItems() { + return false; + } + + public void signalEndOfInput() { + // NO-OP + } + + public void clear() { + selectedReads = new ArrayList(); + } + + public boolean requiresCoordinateSortOrder() { + return false; + } +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/downsampling/PositionalDownsampler.java b/public/java/src/org/broadinstitute/sting/gatk/downsampling/PositionalDownsampler.java new file mode 100644 index 000000000..f29c7728c --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/downsampling/PositionalDownsampler.java @@ -0,0 +1,259 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.downsampling; + +import net.sf.samtools.SAMRecord; +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.util.*; + +/** + * Positional Downsampler: When eliminating reads, try to do so evenly based on the alignment start positions + * + * @author David Roazen + */ +public class PositionalDownsampler implements ReadsDownsampler { + + private int targetCoverage; + + private ReservoirDownsampler reservoir; + + private int currentContigIndex; + + private int currentAlignmentStart; + + private LinkedList pendingReads; + + private ArrayList finalizedReads; + + public PositionalDownsampler ( int targetCoverage ) { + this.targetCoverage = targetCoverage; + clear(); + } + + public void submit ( T newRead ) { + if ( readIsPastCurrentPosition(newRead) ) { + updateAndDownsamplePendingReads(); + } + + reservoir.submit(newRead); + updateCurrentPosition(newRead); + } + + public void submit ( Collection newReads ) { + for ( T read : newReads ) { + submit(read); + } + } + + public boolean hasDownsampledItems() { + return finalizedReads.size() > 0; + } + + public List consumeDownsampledItems() { + List toReturn = finalizedReads; + finalizedReads = new ArrayList(); + return toReturn; + } + + public boolean hasPendingItems() { + return pendingReads.size() > 0; + } + + public void signalEndOfInput() { + updateAndDownsamplePendingReads(); + + for ( PositionalReadGrouping group : pendingReads ) { + group.finalizeAllActiveReads(); + finalizedReads.addAll(group.getFinalizedReads()); + } + + pendingReads.clear(); + } + + public void clear() { + reservoir = new ReservoirDownsampler(targetCoverage); + pendingReads = new LinkedList(); + finalizedReads = new ArrayList(); + } + + public boolean requiresCoordinateSortOrder() { + return true; + } + + private void updateCurrentPosition ( T read ) { + currentContigIndex = read.getReferenceIndex(); + currentAlignmentStart = read.getAlignmentStart(); + } + + private boolean readIsPastCurrentPosition ( T read ) { + return read.getReferenceIndex() != currentContigIndex || read.getAlignmentStart() > currentAlignmentStart; + } + + private void updateAndDownsamplePendingReads() { + finalizeOutOfScopeReads(); + + List oldLocusReads = reservoir.consumeDownsampledItems(); + pendingReads.add(new PositionalReadGrouping(oldLocusReads, currentContigIndex, currentAlignmentStart)); + + downsampleOverlappingGroups(); + } + + private void finalizeOutOfScopeReads() { + Iterator iter = pendingReads.iterator(); + boolean noPrecedingUnfinalizedGroups = true; + + while ( iter.hasNext() ) { + PositionalReadGrouping currentGroup = iter.next(); + currentGroup.finalizeActiveReadsBeforePosition(currentContigIndex, currentAlignmentStart); + + if ( currentGroup.isFinalized() && noPrecedingUnfinalizedGroups ) { + iter.remove(); + finalizedReads.addAll(currentGroup.getFinalizedReads()); + } + else { + noPrecedingUnfinalizedGroups = false; + } + } + } + + private void downsampleOverlappingGroups() { + int[] groupReadCounts = new int[pendingReads.size()]; + int totalCoverage = 0; + int numActiveGroups = 0; + int currentGroup = 0; + + for ( PositionalReadGrouping group : pendingReads ) { + groupReadCounts[currentGroup] = group.numActiveReads(); + totalCoverage += groupReadCounts[currentGroup]; + + if ( groupReadCounts[currentGroup] > 0 ) { + numActiveGroups++; + } + + currentGroup++; + } + + if ( totalCoverage <= targetCoverage ) { + return; + } + + int numReadsToRemove = Math.min(totalCoverage - targetCoverage, totalCoverage - numActiveGroups); + currentGroup = 0; + + while ( numReadsToRemove > 0 ) { + if ( groupReadCounts[currentGroup] > 1 ) { + groupReadCounts[currentGroup]--; + numReadsToRemove--; + } + + currentGroup = (currentGroup + 1) % groupReadCounts.length; + } + + currentGroup = 0; + for ( PositionalReadGrouping group : pendingReads ) { + if ( ! group.isFinalized() ) { + group.downsampleActiveReads(groupReadCounts[currentGroup]); + } + currentGroup++; + } + } + + private class PositionalReadGrouping { + private List activeReads; + private List finalizedReads; + + private int contig; + private int alignmentStart; + + public PositionalReadGrouping( Collection reads, int contig, int alignmentStart ) { + activeReads = new LinkedList(reads); + finalizedReads = new ArrayList(); + this.contig = contig; + this.alignmentStart = alignmentStart; + } + + public int numActiveReads() { + return activeReads.size(); + } + + public boolean isFinalized() { + return activeReads.size() == 0; + } + + public List getFinalizedReads() { + return finalizedReads; + } + + public void finalizeActiveReadsBeforePosition( int contig, int position ) { + if ( this.contig != contig ) { + finalizeAllActiveReads(); + return; + } + + Iterator iter = activeReads.iterator(); + + while ( iter.hasNext() ) { + T read = iter.next(); + if ( read.getAlignmentEnd() < position ) { + iter.remove(); + finalizedReads.add(read); + } + } + } + + public void finalizeAllActiveReads() { + finalizedReads.addAll(activeReads); + activeReads.clear(); + } + + public void downsampleActiveReads( int numReadsToKeep ) { + if ( numReadsToKeep > activeReads.size() || numReadsToKeep < 0 ) { + throw new ReviewedStingException(String.format("Cannot retain %d reads out of %d total reads", + numReadsToKeep, activeReads.size())); + } + + BitSet itemsToKeep = new BitSet(activeReads.size()); + for ( Integer selectedIndex : MathUtils.sampleIndicesWithoutReplacement(activeReads.size(), numReadsToKeep) ) { + itemsToKeep.set(selectedIndex); + } + + int currentIndex = 0; + Iterator iter = activeReads.iterator(); + + while ( iter.hasNext() ) { + T read = iter.next(); + + if ( ! itemsToKeep.get(currentIndex) ) { + iter.remove(); + } + + currentIndex++; + } + } + + } +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/downsampling/ReadsDownsampler.java b/public/java/src/org/broadinstitute/sting/gatk/downsampling/ReadsDownsampler.java new file mode 100644 index 000000000..f78aaf4bf --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/downsampling/ReadsDownsampler.java @@ -0,0 +1,40 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.downsampling; + +import net.sf.samtools.SAMRecord; + +/** + * An extension of the basic downsampler API with reads-specific operations + * + * @author David Roazen + */ +public interface ReadsDownsampler extends Downsampler { + + /* + * Does this downsampler require that reads be fed to it in coordinate order? + */ + public boolean requiresCoordinateSortOrder(); +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/downsampling/ReservoirDownsampler.java b/public/java/src/org/broadinstitute/sting/gatk/downsampling/ReservoirDownsampler.java new file mode 100644 index 000000000..cb40c7042 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/downsampling/ReservoirDownsampler.java @@ -0,0 +1,106 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.downsampling; + +import net.sf.samtools.SAMRecord; +import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.util.ArrayList; +import java.util.Collection; +import java.util.List; + +/** + * Reservoir Downsampler: Selects n reads out of a stream whose size is not known in advance, with + * every read in the stream having an equal chance of being selected for inclusion. + * + * An implementation of "Algorithm R" from the paper "Random Sampling with a Reservoir" (Jeffrey Scott Vitter, 1985) + * + * @author David Roazen + */ +public class ReservoirDownsampler implements ReadsDownsampler { + + private ArrayList reservoir; + + private int targetSampleSize; + + private int totalReadsSeen; + + public ReservoirDownsampler ( int targetSampleSize ) { + if ( targetSampleSize <= 0 ) { + throw new ReviewedStingException("Cannot do reservoir downsampling with a sample size <= 0"); + } + + this.targetSampleSize = targetSampleSize; + clear(); + } + + public void submit ( T newRead ) { + totalReadsSeen++; + + if ( totalReadsSeen <= targetSampleSize ) { + reservoir.add(newRead); + } + else { + int randomSlot = GenomeAnalysisEngine.getRandomGenerator().nextInt(totalReadsSeen); + if ( randomSlot < targetSampleSize ) { + reservoir.set(randomSlot, newRead); + } + } + } + + public void submit ( Collection newReads ) { + for ( T read : newReads ) { + submit(read); + } + } + + public boolean hasDownsampledItems() { + return reservoir.size() > 0; + } + + public List consumeDownsampledItems() { + List downsampledItems = reservoir; + clear(); + return downsampledItems; + } + + public boolean hasPendingItems() { + return false; + } + + public void signalEndOfInput() { + // NO-OP + } + + public void clear() { + reservoir = new ArrayList(targetSampleSize); + totalReadsSeen = 0; + } + + public boolean requiresCoordinateSortOrder() { + return false; + } +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/examples/GATKPaperGenotyper.java b/public/java/src/org/broadinstitute/sting/gatk/examples/GATKPaperGenotyper.java index 26205a203..3069ee528 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/examples/GATKPaperGenotyper.java +++ b/public/java/src/org/broadinstitute/sting/gatk/examples/GATKPaperGenotyper.java @@ -32,7 +32,8 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.LocusWalker; import org.broadinstitute.sting.gatk.walkers.TreeReducible; -import org.broadinstitute.sting.gatk.walkers.genotyper.DiploidSNPGenotypePriors; +import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyperEngine; +import org.broadinstitute.sting.gatk.walkers.genotyper.DiploidGenotype; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; @@ -68,8 +69,8 @@ public class GATKPaperGenotyper extends LocusWalker implements Tre if (ref.getBase() == 'N' || ref.getBase() == 'n') return null; // we don't deal with the N ref base case ReadBackedPileup pileup = context.getBasePileup().getPileupWithoutMappingQualityZeroReads(); - double likelihoods[] = DiploidSNPGenotypePriors.getReferencePolarizedPriors(ref.getBase(), - DiploidSNPGenotypePriors.HUMAN_HETEROZYGOSITY, + double likelihoods[] = getReferencePolarizedPriors(ref.getBase(), + UnifiedGenotyperEngine.HUMAN_SNP_HETEROZYGOSITY, 0.01); // get the bases and qualities from the pileup byte bases[] = pileup.getBases(); @@ -104,10 +105,106 @@ public class GATKPaperGenotyper extends LocusWalker implements Tre } /** - * Provide an initial value for reduce computations. In this case we simply return an empty list + * Takes reference base, and three priors for hom-ref, het, hom-var, and fills in the priors vector + * appropriately. * - * @return Initial value of reduce. + * Suppose A is the reference base, and we are given the probability of being hom-ref, het, and hom-var, + * and that pTriSateGenotype is the true probability of observing reference A and a true genotype of B/C + * then this sets the priors to: + * + * AA = hom-ref + * AC = AG = AT = (het - pTriStateGenotype) / 3 + * CC = GG = TT = hom-var / 3 + * CG = CT = GT = pTriStateGenotype / 3 + * + * So that we get: + * + * hom-ref + 3 * (het - pTriStateGenotype) / 3 + 3 * hom-var / 3 + 3 * pTriStateGenotype + * hom-ref + het - pTriStateGenotype + hom-var + pTriStateGenotype + * hom-ref + het + hom-var + * = 1 + * + * @param ref + * @param heterozyosity + * @param pRefError */ + public static double[] getReferencePolarizedPriors(byte ref, double heterozyosity, double pRefError ) { + if ( ! MathUtils.isBounded(pRefError, 0.0, 0.01) ) { + throw new RuntimeException(String.format("BUG: p Reference error is out of bounds (0.0 - 0.01) is allow range %f", pRefError)); + } + + double pTriStateGenotype = heterozyosity * pRefError; +// if ( pTriStateGenotype >= heterozyosity ) { +// throw new RuntimeException(String.format("p Tristate genotype %f is greater than the heterozygosity %f", pTriStateGenotype, heterozyosity)); +// } + + double pHomRef = heterozygosity2HomRefProbability(heterozyosity); + double pHet = heterozygosity2HetProbability(heterozyosity); + double pHomVar = heterozygosity2HomVarProbability(heterozyosity); + + if (MathUtils.compareDoubles(pHomRef + pHet + pHomVar, 1.0) != 0) { + throw new RuntimeException(String.format("BUG: Prior probabilities don't sum to one => %f, %f, %f", pHomRef, pHet, pHomVar)); + } + + double[] priors = new double[DiploidGenotype.values().length]; + + for ( DiploidGenotype g : DiploidGenotype.values() ) { + double POfG; + + final double nOnRefHets = 3; + final double nOffRefHets = 3; + final double nHomVars = 3; + + if ( g.isHomRef(ref) ) { POfG = pHomRef; } + else if ( g.isHomVar(ref) ) { POfG = pHomVar / nHomVars; } + else if ( g.isHetRef(ref) ) { POfG = (pHet - pTriStateGenotype ) / nOnRefHets; } + else { POfG = pTriStateGenotype / nOffRefHets; } + + priors[g.ordinal()] = Math.log10(POfG); + } + + return priors; + } + + /** + * + * @param h + * @return + */ + public static double heterozygosity2HomRefProbability(double h) { + if (MathUtils.isNegative(h)) { + throw new RuntimeException(String.format("Heterozygous value is bad %f", h)); + } + + double v = 1.0 - (3.0 * h / 2.0); + if (MathUtils.isNegative(v)) { + throw new RuntimeException(String.format("Heterozygous value is bad %f", h)); + } + + return v; + } + + public static double heterozygosity2HetProbability(double h) { + if (MathUtils.isNegative(h)) { + throw new RuntimeException(String.format("Heterozygous value is bad %f", h)); + } + + return h; + } + + public static double heterozygosity2HomVarProbability(double h) { + if (MathUtils.isNegative(h)) { + throw new RuntimeException(String.format("Heterozygous value is bad %f", h)); + } + + return h / 2.0; + } + + /** + * Provide an initial value for reduce computations. In this case we simply return an empty list + * + * @return Initial value of reduce. + */ public Long reduceInit() { return 0L; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/executive/HierarchicalMicroScheduler.java b/public/java/src/org/broadinstitute/sting/gatk/executive/HierarchicalMicroScheduler.java index b821b98e6..5f20ac7af 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/executive/HierarchicalMicroScheduler.java +++ b/public/java/src/org/broadinstitute/sting/gatk/executive/HierarchicalMicroScheduler.java @@ -11,7 +11,6 @@ import org.broadinstitute.sting.gatk.io.ThreadLocalOutputTracker; import org.broadinstitute.sting.gatk.walkers.TreeReducible; import org.broadinstitute.sting.gatk.walkers.Walker; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; -import org.broadinstitute.sting.utils.exceptions.StingException; import org.broadinstitute.sting.utils.threading.ThreadPoolMonitor; import java.util.Collection; @@ -256,7 +255,8 @@ public class HierarchicalMicroScheduler extends MicroScheduler implements Hierar // Specifically catch Tribble I/O exceptions and rethrow them as Reviewed. We don't expect // any issues here because we created the Tribble output file mere moments ago and expect it to // be completely valid. - throw new ReviewedStingException("Unable to merge temporary Tribble output file.",ex); + final String reason = ex.getMessage(); + throw new ReviewedStingException("Unable to merge temporary Tribble output file" + (reason == null ? "." : (" (" + reason + ").")), ex); } } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/executive/LinearMicroScheduler.java b/public/java/src/org/broadinstitute/sting/gatk/executive/LinearMicroScheduler.java index 16487054b..b35abb775 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/executive/LinearMicroScheduler.java +++ b/public/java/src/org/broadinstitute/sting/gatk/executive/LinearMicroScheduler.java @@ -11,7 +11,6 @@ import org.broadinstitute.sting.gatk.datasources.rmd.ReferenceOrderedDataSource; import org.broadinstitute.sting.gatk.io.DirectOutputTracker; import org.broadinstitute.sting.gatk.io.OutputTracker; import org.broadinstitute.sting.gatk.traversals.TraverseActiveRegions; -import org.broadinstitute.sting.gatk.walkers.LocusWalker; import org.broadinstitute.sting.gatk.walkers.Walker; import org.broadinstitute.sting.utils.SampleUtils; diff --git a/public/java/src/org/broadinstitute/sting/gatk/executive/ShardTraverser.java b/public/java/src/org/broadinstitute/sting/gatk/executive/ShardTraverser.java index 9920213a3..bb0344848 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/executive/ShardTraverser.java +++ b/public/java/src/org/broadinstitute/sting/gatk/executive/ShardTraverser.java @@ -6,11 +6,11 @@ import org.broadinstitute.sting.gatk.datasources.providers.ShardDataProvider; import org.broadinstitute.sting.gatk.datasources.reads.Shard; import org.broadinstitute.sting.gatk.io.ThreadLocalOutputTracker; import org.broadinstitute.sting.gatk.traversals.TraversalEngine; -import org.broadinstitute.sting.gatk.walkers.LocusWalker; import org.broadinstitute.sting.gatk.walkers.Walker; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import java.util.concurrent.Callable; +import java.util.concurrent.ExecutionException; /** * User: hanna * Date: Apr 29, 2009 @@ -79,6 +79,10 @@ public class ShardTraverser implements Callable { microScheduler.reportShardTraverseTime(endTime-startTime); return accumulator; + } catch(Throwable t) { + // Notify that an exception has occurred + microScheduler.handleException(new ExecutionException(t)); + throw new RuntimeException(t); } finally { synchronized(this) { complete = true; diff --git a/public/java/src/org/broadinstitute/sting/gatk/filters/BadCigarFilter.java b/public/java/src/org/broadinstitute/sting/gatk/filters/BadCigarFilter.java index 6a9642d97..9a1455859 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/filters/BadCigarFilter.java +++ b/public/java/src/org/broadinstitute/sting/gatk/filters/BadCigarFilter.java @@ -39,9 +39,11 @@ import net.sf.samtools.SAMRecord; public class BadCigarFilter extends ReadFilter { public boolean filterOut(final SAMRecord rec) { - Cigar c = rec.getCigar(); + final Cigar c = rec.getCigar(); + if( c.isEmpty() ) { return false; } // if there is no Cigar then it can't be bad + boolean previousElementWasIndel = false; - CigarOperator lastOp = c.getCigarElement(0).getOperator(); + CigarOperator lastOp = c.getCigarElement(0).getOperator(); if (lastOp == CigarOperator.D) // filter out reads starting with deletion return true; diff --git a/public/java/src/org/broadinstitute/sting/gatk/filters/ReadFilter.java b/public/java/src/org/broadinstitute/sting/gatk/filters/ReadFilter.java index bf3ce352a..d8caa3dea 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/filters/ReadFilter.java +++ b/public/java/src/org/broadinstitute/sting/gatk/filters/ReadFilter.java @@ -1,6 +1,7 @@ package org.broadinstitute.sting.gatk.filters; import net.sf.picard.filter.SamRecordFilter; +import net.sf.samtools.SAMRecord; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; @@ -16,4 +17,19 @@ public abstract class ReadFilter implements SamRecordFilter { * @param engine the engine. */ public void initialize(GenomeAnalysisEngine engine) {} + + + /** + * Determines whether a pair of SAMRecord matches this filter + * + * @param first the first SAMRecord to evaluate + * @param second the second SAMRecord to evaluate + * + * @return true if the SAMRecords matches the filter, otherwise false + * @throws UnsupportedOperationException when paired filter not implemented + */ + @Override + public boolean filterOut(final SAMRecord first, final SAMRecord second) { + throw new UnsupportedOperationException("Paired filter not implemented: " + this.getClass()); + } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/io/storage/StorageFactory.java b/public/java/src/org/broadinstitute/sting/gatk/io/storage/StorageFactory.java index 66907dd6b..836b4f5f3 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/io/storage/StorageFactory.java +++ b/public/java/src/org/broadinstitute/sting/gatk/io/storage/StorageFactory.java @@ -28,7 +28,7 @@ package org.broadinstitute.sting.gatk.io.storage; import org.broadinstitute.sting.gatk.io.stubs.OutputStreamStub; import org.broadinstitute.sting.gatk.io.stubs.SAMFileWriterStub; import org.broadinstitute.sting.gatk.io.stubs.Stub; -import org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub; +import org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import java.io.File; @@ -77,12 +77,12 @@ public class StorageFactory { else storage = new SAMFileWriterStorage((SAMFileWriterStub)stub); } - else if(stub instanceof VCFWriterStub) { - VCFWriterStub vcfWriterStub = (VCFWriterStub)stub; + else if(stub instanceof VariantContextWriterStub) { + VariantContextWriterStub vcfWriterStub = (VariantContextWriterStub)stub; if( file != null ) - storage = new VCFWriterStorage(vcfWriterStub,file); + storage = new VariantContextWriterStorage(vcfWriterStub,file); else - storage = new VCFWriterStorage(vcfWriterStub); + storage = new VariantContextWriterStorage(vcfWriterStub); } else throw new ReviewedStingException("Unsupported stub type: " + stub.getClass().getName()); diff --git a/public/java/src/org/broadinstitute/sting/gatk/io/storage/VCFWriterStorage.java b/public/java/src/org/broadinstitute/sting/gatk/io/storage/VCFWriterStorage.java deleted file mode 100644 index 4ca7b935f..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/io/storage/VCFWriterStorage.java +++ /dev/null @@ -1,128 +0,0 @@ -package org.broadinstitute.sting.gatk.io.storage; - -import net.sf.samtools.util.BlockCompressedOutputStream; -import org.apache.log4j.Logger; -import org.broad.tribble.source.BasicFeatureSource; -import org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub; -import org.broadinstitute.sting.utils.codecs.vcf.StandardVCFWriter; -import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.variantcontext.VariantContext; - -import java.io.File; -import java.io.IOException; -import java.io.OutputStream; -import java.io.PrintStream; - -/** - * Provides temporary and permanent storage for genotypes in VCF format. - * - * @author mhanna - * @version 0.1 - */ -public class VCFWriterStorage implements Storage, VCFWriter { - /** - * our log, which we want to capture anything from this class - */ - private static Logger logger = Logger.getLogger(VCFWriterStorage.class); - - protected final File file; - protected OutputStream stream; - protected final VCFWriter writer; - - /** - * Constructs an object which will write directly into the output file provided by the stub. - * Intentionally delaying the writing of the header -- this should be filled in by the walker. - * @param stub Stub to use when constructing the output file. - */ - public VCFWriterStorage( VCFWriterStub stub ) { - if ( stub.getFile() != null ) { - this.file = stub.getFile(); - writer = vcfWriterToFile(stub,stub.getFile(),true); - } - else if ( stub.getOutputStream() != null ) { - this.file = null; - this.stream = stub.getOutputStream(); - writer = new StandardVCFWriter(stream, stub.getMasterSequenceDictionary(), stub.doNotWriteGenotypes()); - } - else - throw new ReviewedStingException("Unable to create target to which to write; storage was provided with neither a file nor a stream."); - } - - /** - * common initialization routine for multiple constructors - * @param stub Stub to use when constructing the output file. - * @param file Target file into which to write VCF records. - * @param indexOnTheFly true to index the file on the fly. NOTE: will be forced to false for compressed files. - * @return A VCF writer for use with this class - */ - private StandardVCFWriter vcfWriterToFile(VCFWriterStub stub, File file, boolean indexOnTheFly) { - try { - if ( stub.isCompressed() ) - stream = new BlockCompressedOutputStream(file); - else - stream = new PrintStream(file); - } - catch(IOException ex) { - throw new UserException.CouldNotCreateOutputFile(file, "Unable to open target output stream", ex); - } - - // The GATK/Tribble can't currently index block-compressed files on the fly. Disable OTF indexing even if the user explicitly asked for it. - return new StandardVCFWriter(file, this.stream, stub.getMasterSequenceDictionary(), indexOnTheFly && !stub.isCompressed(), stub.doNotWriteGenotypes()); - } - - - /** - * Constructs an object which will redirect into a different file. - * @param stub Stub to use when synthesizing file / header info. - * @param tempFile File into which to direct the output data. - */ - public VCFWriterStorage(VCFWriterStub stub, File tempFile) { - logger.debug("Creating temporary VCF file " + tempFile.getAbsolutePath() + " for VCF output."); - this.file = tempFile; - this.writer = vcfWriterToFile(stub, file, false); - writer.writeHeader(stub.getVCFHeader()); - } - - public void add(VariantContext vc) { - writer.add(vc); - } - - /** - * initialize this VCF header - * - * @param header the header - */ - public void writeHeader(VCFHeader header) { - writer.writeHeader(header); - } - - /** - * Close the VCF storage object. - */ - public void close() { - if(file != null) - logger.debug("Closing temporary file " + file.getAbsolutePath()); - writer.close(); - } - - public void mergeInto(VCFWriterStorage target) { - try { - String sourceFilePath = file.getAbsolutePath(); - String targetFilePath = target.file != null ? target.file.getAbsolutePath() : "/dev/stdin"; - logger.debug(String.format("Merging %s into %s",sourceFilePath,targetFilePath)); - BasicFeatureSource source = BasicFeatureSource.getFeatureSource(file.getAbsolutePath(), new VCFCodec(), false); - - for ( VariantContext vc : source.iterator() ) { - target.writer.add(vc); - } - - source.close(); - } catch (IOException e) { - throw new UserException.CouldNotReadInputFile(file, "Error reading file in VCFWriterStorage: ", e); - } - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/io/storage/VariantContextWriterStorage.java b/public/java/src/org/broadinstitute/sting/gatk/io/storage/VariantContextWriterStorage.java new file mode 100644 index 000000000..fb05a6b04 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/io/storage/VariantContextWriterStorage.java @@ -0,0 +1,193 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.io.storage; + +import net.sf.samtools.util.BlockCompressedOutputStream; +import org.apache.log4j.Logger; +import org.broad.tribble.AbstractFeatureReader; +import org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Utils; +import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; +import org.broadinstitute.sting.utils.variantcontext.writer.Options; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriterFactory; + +import java.io.*; +import java.util.Arrays; +import java.util.EnumSet; +import java.util.List; + +/** + * Provides temporary and permanent storage for genotypes in VCF format. + * + * @author mhanna + * @version 0.1 + */ +public class VariantContextWriterStorage implements Storage, VariantContextWriter { + /** + * our log, which we want to capture anything from this class + */ + private static Logger logger = Logger.getLogger(VariantContextWriterStorage.class); + + private final static int BUFFER_SIZE = 1048576; + + protected final File file; + protected OutputStream stream; + protected final VariantContextWriter writer; + + /** + * Constructs an object which will write directly into the output file provided by the stub. + * Intentionally delaying the writing of the header -- this should be filled in by the walker. + * @param stub Stub to use when constructing the output file. + */ + public VariantContextWriterStorage(VariantContextWriterStub stub) { + if ( stub.getFile() != null ) { + this.file = stub.getFile(); + writer = vcfWriterToFile(stub,stub.getFile(),true); + } + else if ( stub.getOutputStream() != null ) { + this.file = null; + this.stream = stub.getOutputStream(); + writer = VariantContextWriterFactory.create(stream, + stub.getMasterSequenceDictionary(), stub.getWriterOptions(false)); + } + else + throw new ReviewedStingException("Unable to create target to which to write; storage was provided with neither a file nor a stream."); + } + + /** + * common initialization routine for multiple constructors + * @param stub Stub to use when constructing the output file. + * @param file Target file into which to write VCF records. + * @param indexOnTheFly true to index the file on the fly. NOTE: will be forced to false for compressed files. + * @return A VCF writer for use with this class + */ + private VariantContextWriter vcfWriterToFile(VariantContextWriterStub stub, File file, boolean indexOnTheFly) { + try { + if ( stub.isCompressed() ) + stream = new BlockCompressedOutputStream(file); + else + stream = new PrintStream(new BufferedOutputStream(new FileOutputStream(file), BUFFER_SIZE)); + } + catch(IOException ex) { + throw new UserException.CouldNotCreateOutputFile(file, "Unable to open target output stream", ex); + } + + // The GATK/Tribble can't currently index block-compressed files on the fly. Disable OTF indexing even if the user explicitly asked for it. + EnumSet options = stub.getWriterOptions(indexOnTheFly); + VariantContextWriter writer = VariantContextWriterFactory.create(file, this.stream, stub.getMasterSequenceDictionary(), options); + + // if the stub says to test BCF, create a secondary writer to BCF and an 2 way out writer to send to both + // TODO -- remove me when argument generateShadowBCF is removed + if ( stub.alsoWriteBCFForTest() && ! VariantContextWriterFactory.isBCFOutput(file, options)) { + final File bcfFile = BCF2Utils.shadowBCF(file); + if ( bcfFile != null ) { + VariantContextWriter bcfWriter = VariantContextWriterFactory.create(bcfFile, stub.getMasterSequenceDictionary(), options); + writer = new TestWriter(writer, bcfWriter); + } + } + + return writer; + } + + private final static class TestWriter implements VariantContextWriter { + final List writers; + + private TestWriter(final VariantContextWriter ... writers) { + this.writers = Arrays.asList(writers); + } + + @Override + public void writeHeader(final VCFHeader header) { + for ( final VariantContextWriter writer : writers ) writer.writeHeader(header); + } + + @Override + public void close() { + for ( final VariantContextWriter writer : writers ) writer.close(); + } + + @Override + public void add(final VariantContext vc) { + for ( final VariantContextWriter writer : writers ) writer.add(vc); + } + } + + + /** + * Constructs an object which will redirect into a different file. + * @param stub Stub to use when synthesizing file / header info. + * @param tempFile File into which to direct the output data. + */ + public VariantContextWriterStorage(VariantContextWriterStub stub, File tempFile) { + logger.debug("Creating temporary VCF file " + tempFile.getAbsolutePath() + " for VCF output."); + this.file = tempFile; + this.writer = vcfWriterToFile(stub, file, false); + writer.writeHeader(stub.getVCFHeader()); + } + + public void add(VariantContext vc) { + writer.add(vc); + } + + /** + * initialize this VCF header + * + * @param header the header + */ + public void writeHeader(VCFHeader header) { + writer.writeHeader(header); + } + + /** + * Close the VCF storage object. + */ + public void close() { + if(file != null) + logger.debug("Closing temporary file " + file.getAbsolutePath()); + writer.close(); + } + + public void mergeInto(VariantContextWriterStorage target) { + try { + String sourceFilePath = file.getAbsolutePath(); + String targetFilePath = target.file != null ? target.file.getAbsolutePath() : "/dev/stdin"; + logger.debug(String.format("Merging %s into %s",sourceFilePath,targetFilePath)); + AbstractFeatureReader source = AbstractFeatureReader.getFeatureReader(file.getAbsolutePath(), new VCFCodec(), false); + + for ( VariantContext vc : source.iterator() ) { + target.writer.add(vc); + } + + source.close(); + } catch (IOException e) { + throw new UserException.CouldNotReadInputFile(file, "Error reading file in VCFWriterStorage: ", e); + } + } +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/io/stubs/SAMFileWriterArgumentTypeDescriptor.java b/public/java/src/org/broadinstitute/sting/gatk/io/stubs/SAMFileWriterArgumentTypeDescriptor.java index 43ec934ed..8566f6c63 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/io/stubs/SAMFileWriterArgumentTypeDescriptor.java +++ b/public/java/src/org/broadinstitute/sting/gatk/io/stubs/SAMFileWriterArgumentTypeDescriptor.java @@ -116,9 +116,9 @@ public class SAMFileWriterArgumentTypeDescriptor extends ArgumentTypeDescriptor String compressionLevelText = getArgumentValue( createBAMCompressionArgumentDefinition(source), matches ); Integer compressionLevel = compressionLevelText != null ? Integer.valueOf(compressionLevelText) : null; - Boolean indexOnTheFly = !argumentIsPresent(disableWriteIndexArgumentDefinition(source),matches) ? true : null; - Boolean generateMD5 = argumentIsPresent(this.enableMD5GenerationArgumentDefinition(source),matches) ? true : null; - Boolean simplifyBAM = argumentIsPresent(createSimplifyBAMArgumentDefinition(source),matches); + boolean indexOnTheFly = !argumentIsPresent(disableWriteIndexArgumentDefinition(source),matches); + boolean generateMD5 = argumentIsPresent(this.enableMD5GenerationArgumentDefinition(source),matches); + boolean simplifyBAM = argumentIsPresent(createSimplifyBAMArgumentDefinition(source),matches); // Validate the combination of parameters passed in. @@ -132,15 +132,19 @@ public class SAMFileWriterArgumentTypeDescriptor extends ArgumentTypeDescriptor } // Create the stub and set parameters. - SAMFileWriterStub stub = new SAMFileWriterStub(engine, new File(writerFileName)); + SAMFileWriterStub stub; + if ( writerFileName != null ) + stub = new SAMFileWriterStub(engine, new File(writerFileName)); + else + stub = new SAMFileWriterStub(engine, defaultOutputStream); - if( compressionLevel != null ) + if ( compressionLevel != null ) stub.setCompressionLevel(compressionLevel); - if(indexOnTheFly != null) + if ( indexOnTheFly ) stub.setIndexOnTheFly(indexOnTheFly); - if(generateMD5 != null) + if ( generateMD5 ) stub.setGenerateMD5(generateMD5); - if(simplifyBAM != null) + if ( simplifyBAM ) stub.setSimplifyBAM(simplifyBAM); // WARNING: Side effects required by engine! diff --git a/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VCFWriterArgumentTypeDescriptor.java b/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VCFWriterArgumentTypeDescriptor.java index 98026554b..09766f127 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VCFWriterArgumentTypeDescriptor.java +++ b/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VCFWriterArgumentTypeDescriptor.java @@ -27,7 +27,7 @@ package org.broadinstitute.sting.gatk.io.stubs; import org.broadinstitute.sting.commandline.*; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import java.io.File; @@ -45,7 +45,7 @@ import java.util.List; * @version 0.1 */ public class VCFWriterArgumentTypeDescriptor extends ArgumentTypeDescriptor { - public static final String NO_HEADER_ARG_NAME = "NO_HEADER"; + public static final String NO_HEADER_ARG_NAME = "no_cmdline_in_header"; public static final String SITES_ONLY_ARG_NAME = "sites_only"; public static final HashSet SUPPORTED_ZIPPED_SUFFIXES = new HashSet(); @@ -91,12 +91,12 @@ public class VCFWriterArgumentTypeDescriptor extends ArgumentTypeDescriptor { */ @Override public boolean supports( Class type ) { - return VCFWriter.class.equals(type); + return VariantContextWriter.class.equals(type); } @Override public List createArgumentDefinitions( ArgumentSource source ) { - return Arrays.asList( createDefaultArgumentDefinition(source),createNoHeaderArgumentDefinition(),createSitesOnlyArgumentDefinition()); + return Arrays.asList( createDefaultArgumentDefinition(source), createNoCommandLineHeaderArgumentDefinition(),createSitesOnlyArgumentDefinition()); } /** @@ -117,7 +117,7 @@ public class VCFWriterArgumentTypeDescriptor extends ArgumentTypeDescriptor { public Object createTypeDefault(ParsingEngine parsingEngine,ArgumentSource source, Type type) { if(!source.isRequired()) throw new ReviewedStingException("BUG: tried to create type default for argument type descriptor that can't support a type default."); - VCFWriterStub stub = new VCFWriterStub(engine, defaultOutputStream, false, argumentSources, false, false); + VariantContextWriterStub stub = new VariantContextWriterStub(engine, defaultOutputStream, false, argumentSources, false, false); engine.addOutput(stub); return stub; } @@ -144,12 +144,12 @@ public class VCFWriterArgumentTypeDescriptor extends ArgumentTypeDescriptor { // Should we compress the output stream? boolean compress = isCompressed(writerFileName); - boolean skipWritingHeader = argumentIsPresent(createNoHeaderArgumentDefinition(),matches); + boolean skipWritingCmdLineHeader = argumentIsPresent(createNoCommandLineHeaderArgumentDefinition(),matches); boolean doNotWriteGenotypes = argumentIsPresent(createSitesOnlyArgumentDefinition(),matches); // Create a stub for the given object. - VCFWriterStub stub = (writerFile != null) ? new VCFWriterStub(engine, writerFile, compress, argumentSources, skipWritingHeader, doNotWriteGenotypes) - : new VCFWriterStub(engine, defaultOutputStream, compress, argumentSources, skipWritingHeader, doNotWriteGenotypes); + VariantContextWriterStub stub = (writerFile != null) ? new VariantContextWriterStub(engine, writerFile, compress, argumentSources, skipWritingCmdLineHeader, doNotWriteGenotypes) + : new VariantContextWriterStub(engine, defaultOutputStream, compress, argumentSources, skipWritingCmdLineHeader, doNotWriteGenotypes); // WARNING: Side effects required by engine! parsingEngine.addTags(stub,getArgumentTags(matches)); @@ -162,7 +162,7 @@ public class VCFWriterArgumentTypeDescriptor extends ArgumentTypeDescriptor { * Creates the optional compression level argument for the BAM file. * @return Argument definition for the BAM file itself. Will not be null. */ - private ArgumentDefinition createNoHeaderArgumentDefinition() { + private ArgumentDefinition createNoCommandLineHeaderArgumentDefinition() { return new ArgumentDefinition( ArgumentIOType.ARGUMENT, boolean.class, NO_HEADER_ARG_NAME, diff --git a/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VCFWriterStub.java b/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VariantContextWriterStub.java similarity index 68% rename from public/java/src/org/broadinstitute/sting/gatk/io/stubs/VCFWriterStub.java rename to public/java/src/org/broadinstitute/sting/gatk/io/stubs/VariantContextWriterStub.java index 94051cc7f..6ed889eb6 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VCFWriterStub.java +++ b/public/java/src/org/broadinstitute/sting/gatk/io/stubs/VariantContextWriterStub.java @@ -25,20 +25,24 @@ package org.broadinstitute.sting.gatk.io.stubs; import net.sf.samtools.SAMSequenceDictionary; -import net.sf.samtools.SAMSequenceRecord; import org.broadinstitute.sting.gatk.CommandLineExecutable; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.io.OutputTracker; import org.broadinstitute.sting.utils.classloader.JVMUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; +import org.broadinstitute.sting.utils.codecs.vcf.VCFUtils; +import org.broadinstitute.sting.utils.variantcontext.writer.Options; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.io.File; import java.io.OutputStream; import java.io.PrintStream; +import java.util.ArrayList; import java.util.Collection; +import java.util.EnumSet; +import java.util.List; /** * A stub for routing and management of genotype reading and writing. @@ -46,7 +50,9 @@ import java.util.Collection; * @author ebanks * @version 0.1 */ -public class VCFWriterStub implements Stub, VCFWriter { +public class VariantContextWriterStub implements Stub, VariantContextWriter { + public final static boolean UPDATE_CONTIG_HEADERS = true; + /** * The engine, central to the GATK's processing. */ @@ -83,7 +89,7 @@ public class VCFWriterStub implements Stub, VCFWriter { /** * Should the header be written out? A hidden argument. */ - private final boolean skipWritingHeader; + private final boolean skipWritingCommandLineHeader; /** * Should we not write genotypes even when provided? @@ -103,16 +109,16 @@ public class VCFWriterStub implements Stub, VCFWriter { * @param genotypeFile file to (ultimately) create. * @param isCompressed should we compress the output stream? * @param argumentSources sources. - * @param skipWritingHeader skip writing header. + * @param skipWritingCommandLineHeader skip writing header. * @param doNotWriteGenotypes do not write genotypes. */ - public VCFWriterStub(GenomeAnalysisEngine engine, File genotypeFile, boolean isCompressed, Collection argumentSources, boolean skipWritingHeader, boolean doNotWriteGenotypes) { + public VariantContextWriterStub(GenomeAnalysisEngine engine, File genotypeFile, boolean isCompressed, Collection argumentSources, boolean skipWritingCommandLineHeader, boolean doNotWriteGenotypes) { this.engine = engine; this.genotypeFile = genotypeFile; this.genotypeStream = null; this.isCompressed = isCompressed; this.argumentSources = argumentSources; - this.skipWritingHeader = skipWritingHeader; + this.skipWritingCommandLineHeader = skipWritingCommandLineHeader; this.doNotWriteGenotypes = doNotWriteGenotypes; } @@ -123,16 +129,16 @@ public class VCFWriterStub implements Stub, VCFWriter { * @param genotypeStream stream to (ultimately) write. * @param isCompressed should we compress the output stream? * @param argumentSources sources. - * @param skipWritingHeader skip writing header. + * @param skipWritingCommandLineHeader skip writing header. * @param doNotWriteGenotypes do not write genotypes. */ - public VCFWriterStub(GenomeAnalysisEngine engine, OutputStream genotypeStream, boolean isCompressed, Collection argumentSources, boolean skipWritingHeader, boolean doNotWriteGenotypes) { + public VariantContextWriterStub(GenomeAnalysisEngine engine, OutputStream genotypeStream, boolean isCompressed, Collection argumentSources, boolean skipWritingCommandLineHeader, boolean doNotWriteGenotypes) { this.engine = engine; this.genotypeFile = null; this.genotypeStream = new PrintStream(genotypeStream); this.isCompressed = isCompressed; this.argumentSources = argumentSources; - this.skipWritingHeader = skipWritingHeader; + this.skipWritingCommandLineHeader = skipWritingCommandLineHeader; this.doNotWriteGenotypes = doNotWriteGenotypes; } @@ -169,12 +175,18 @@ public class VCFWriterStub implements Stub, VCFWriter { return engine.getMasterSequenceDictionary(); } - /** - * Should we tell the VCF writer not to write genotypes? - * @return true if the writer should not write genotypes. - */ - public boolean doNotWriteGenotypes() { - return doNotWriteGenotypes; + public EnumSet getWriterOptions() { + return getWriterOptions(false); + } + + public EnumSet getWriterOptions(boolean indexOnTheFly) { + List options = new ArrayList(); + + if ( doNotWriteGenotypes ) options.add(Options.DO_NOT_WRITE_GENOTYPES); + if ( engine.lenientVCFProcessing() ) options.add(Options.ALLOW_MISSING_FIELDS_IN_HEADER); + if ( indexOnTheFly && ! isCompressed() ) options.add(Options.INDEX_ON_THE_FLY); + + return options.isEmpty() ? EnumSet.noneOf(Options.class) : EnumSet.copyOf(options); } /** @@ -196,26 +208,18 @@ public class VCFWriterStub implements Stub, VCFWriter { public void writeHeader(VCFHeader header) { vcfHeader = header; - // Check for the command-line argument header line. If not present, add it in. - if (!skipWritingHeader && header.isWriteEngineHeaders()) { - - if (header.isWriteCommandLine()) { - VCFHeaderLine commandLineArgHeaderLine = getCommandLineArgumentHeaderLine(); - boolean foundCommandLineHeaderLine = false; - for (VCFHeaderLine line: vcfHeader.getMetaData()) { - if ( line.getKey().equals(commandLineArgHeaderLine.getKey()) ) - foundCommandLineHeaderLine = true; - } - if ( !foundCommandLineHeaderLine ) + if ( header.isWriteEngineHeaders() ) { + // skip writing the command line header if requested + if ( ! skipWritingCommandLineHeader && header.isWriteCommandLine() ) { + // Check for the command-line argument header line. If not present, add it in. + final VCFHeaderLine commandLineArgHeaderLine = getCommandLineArgumentHeaderLine(); + final boolean foundCommandLineHeaderLine = vcfHeader.getMetaDataLine(commandLineArgHeaderLine.getKey()) != null; + if ( ! foundCommandLineHeaderLine ) vcfHeader.addMetaDataLine(commandLineArgHeaderLine); } - // also put in the reference contig header lines - String assembly = getReferenceAssembly(engine.getArguments().referenceFile.getName()); - for ( SAMSequenceRecord contig : engine.getReferenceDataSource().getReference().getSequenceDictionary().getSequences() ) - vcfHeader.addMetaDataLine(getContigHeaderLine(contig, assembly)); - - vcfHeader.addMetaDataLine(new VCFHeaderLine(VCFHeader.REFERENCE_KEY, "file://" + engine.getArguments().referenceFile.getAbsolutePath())); + if ( UPDATE_CONTIG_HEADERS ) + vcfHeader = VCFUtils.withUpdatedContigs(vcfHeader, engine); } outputTracker.getStorage(this).writeHeader(vcfHeader); @@ -244,6 +248,20 @@ public class VCFWriterStub implements Stub, VCFWriter { return getClass().getName(); } + /** + * Should we also write a BCF file alongside our VCF file for testing + * + * TODO -- remove me when argument generateShadowBCF is removed + * + * @return + */ + public boolean alsoWriteBCFForTest() { + return engine.getArguments().numberOfThreads == 1 && // only works single threaded + ! isCompressed() && // for non-compressed outputs + getFile() != null && // that are going to disk + engine.getArguments().generateShadowBCF; // and we actually want to do it + } + /** * Gets the appropriately formatted header for a VCF file * @return VCF file header. @@ -252,27 +270,4 @@ public class VCFWriterStub implements Stub, VCFWriter { CommandLineExecutable executable = JVMUtils.getObjectOfType(argumentSources,CommandLineExecutable.class); return new VCFHeaderLine(executable.getAnalysisName(), "\"" + engine.createApproximateCommandLineArgumentString(argumentSources.toArray()) + "\""); } - - private VCFHeaderLine getContigHeaderLine(SAMSequenceRecord contig, String assembly) { - String val; - if ( assembly != null ) - val = String.format("", contig.getSequenceName(), contig.getSequenceLength(), assembly); - else - val = String.format("", contig.getSequenceName(), contig.getSequenceLength()); - return new VCFHeaderLine(VCFHeader.CONTIG_KEY, val); - } - - private String getReferenceAssembly(String refPath) { - // This doesn't need to be perfect as it's not a required VCF header line, but we might as well give it a shot - String assembly = null; - if (refPath.contains("b37") || refPath.contains("v37")) - assembly = "b37"; - else if (refPath.contains("b36")) - assembly = "b36"; - else if (refPath.contains("hg18")) - assembly = "hg18"; - else if (refPath.contains("hg19")) - assembly = "hg19"; - return assembly; - } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/iterators/LocusIteratorByState.java b/public/java/src/org/broadinstitute/sting/gatk/iterators/LocusIteratorByState.java index 8b9674353..6ff9f3bd5 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/iterators/LocusIteratorByState.java +++ b/public/java/src/org/broadinstitute/sting/gatk/iterators/LocusIteratorByState.java @@ -40,9 +40,7 @@ import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.ReservoirDownsampler; import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.pileup.ExtendedEventPileupElement; import org.broadinstitute.sting.utils.pileup.PileupElement; -import org.broadinstitute.sting.utils.pileup.ReadBackedExtendedEventPileupImpl; import org.broadinstitute.sting.utils.pileup.ReadBackedPileupImpl; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; @@ -63,7 +61,6 @@ public class LocusIteratorByState extends LocusIterator { // member fields // // ----------------------------------------------------------------------------------------------------------------- - private boolean hasExtendedEvents = false; // will be set to true if at least one read had an indel right before the current position /** * Used to create new GenomeLocs. @@ -92,26 +89,10 @@ public class LocusIteratorByState extends LocusIterator { // stepForwardOnGenome(). The next call to stepForwardOnGenome() will clear that memory (as we remember only extended // events immediately preceding the current reference base). - boolean generateExtendedEvents = true; // should we generate an additional, special pile for indels between the ref bases? - // the only purpose of this flag is to shield away a few additional lines of code - // when extended piles are not needed, it may not be even worth it... - - byte[] insertedBases = null; // remember full inserted sequence if we are generating piles of extended events (indels) - int eventLength = -1; // will be set to the length of insertion/deletion if we are generating piles of extended events - byte eventDelayedFlag = 0; // will be set to non-0 if there was an event (indel) right before the - // current base on the ref. We use a counter-like variable here since clearing the indel event is - // delayed by one base, so we need to remember how long ago we have seen the actual event - - int eventStart = -1; // where on the read the extended event starts (i.e. the last position on the read prior to the - // event, or -1 if alignment starts with an insertion); this one is easy to recompute on the fly, - // we cache it here mainly for convenience - - - public SAMRecordState(SAMRecord read, boolean extended) { + public SAMRecordState(SAMRecord read) { this.read = read; cigar = read.getCigar(); nCigarElements = cigar.numCigarElements(); - generateExtendedEvents = extended; //System.out.printf("Creating a SAMRecordState: %s%n", this); } @@ -150,27 +131,6 @@ public class LocusIteratorByState extends LocusIterator { return curElement.getOperator(); } - /** - * Returns true if we just stepped over insertion/into a deletion prior to the last return from stepForwardOnGenome. - * - * @return - */ - public boolean hadIndel() { - return (eventLength > 0); - } - - public int getEventLength() { - return eventLength; - } - - public byte[] getEventBases() { - return insertedBases; - } - - public int getReadEventStartOffset() { - return eventStart; - } - public String toString() { return String.format("%s ro=%d go=%d co=%d cec=%d %s", read.getReadName(), readOffset, genomeOffset, cigarOffset, cigarElementCounter, curElement); } @@ -208,19 +168,6 @@ public class LocusIteratorByState extends LocusIterator { genomeOffset++; // extended events need that. Logically, it's legal to advance the genomic offset here: // we do step forward on the ref, and by returning null we also indicate that we are past the read end. - if (generateExtendedEvents && eventDelayedFlag > 0) { - - // if we had an indel right before the read ended (i.e. insertion was the last cigar element), - // we keep it until next reference base; then we discard it and this will allow the LocusIterator to - // finally discard this read - eventDelayedFlag--; - if (eventDelayedFlag == 0) { - eventLength = -1; // reset event when we are past it - insertedBases = null; - eventStart = -1; - } - } - return null; } } @@ -232,17 +179,6 @@ public class LocusIteratorByState extends LocusIterator { cigarElementCounter = curElement.getLength(); break; case I: // insertion w.r.t. the reference - if (generateExtendedEvents) { - // we see insertions only once, when we step right onto them; the position on the read is scrolled - // past the insertion right after that - if (eventDelayedFlag > 1) - throw new UserException.MalformedBAM(read, String.format("Adjacent I/D events in read %s -- cigar: %s. This is an indication of a malformed file, but the SAM spec allows reads with adjacent insertion/deletion. If you are sure you want to use this read, re-run your analysis with the extra option: -rf BadCigar", read.getReadName(), read.getCigarString())); - insertedBases = Arrays.copyOfRange(read.getReadBases(), readOffset + 1, readOffset + 1 + curElement.getLength()); - eventLength = curElement.getLength(); - eventStart = readOffset; - eventDelayedFlag = 2; // insertion causes re-entry into stepForwardOnGenome, so we set the delay to 2 -// System.out.println("Inserted "+(new String (insertedBases)) +" after "+readOffset); - } // continue onto the 'S' case ! case S: // soft clip cigarElementCounter = curElement.getLength(); readOffset += curElement.getLength(); @@ -250,19 +186,6 @@ public class LocusIteratorByState extends LocusIterator { case D: // deletion w.r.t. the reference if (readOffset < 0) // we don't want reads starting with deletion, this is a malformed cigar string throw new UserException.MalformedBAM(read, "Read starting with deletion. Cigar: " + read.getCigarString() + ". This is an indication of a malformed file, but the SAM spec allows reads starting in deletion. If you are sure you want to use this read, re-run your analysis with the extra option: -rf BadCigar"); - if (generateExtendedEvents) { - if (cigarElementCounter == 1) { - // generate an extended event only if we just stepped into the deletion (i.e. don't - // generate the event at every deleted position on the ref, that's what cigarElementCounter==1 is for!) - if (eventDelayedFlag > 1) - throw new UserException.MalformedBAM(read, String.format("Adjacent I/D events in read %s -- cigar: %s. This is an indication of a malformed file, but the SAM spec allows reads with adjacent insertion/deletion. If you are sure you want to use this read, re-run your analysis with the extra option: -rf BadCigar", read.getReadName(), read.getCigarString())); - eventLength = curElement.getLength(); - eventDelayedFlag = 2; // deletion on the ref causes an immediate return, so we have to delay by 1 only - eventStart = readOffset; - insertedBases = null; -// System.out.println("Deleted "+eventLength +" bases after "+readOffset); - } - } // should be the same as N case genomeOffset++; done = true; @@ -280,21 +203,6 @@ public class LocusIteratorByState extends LocusIterator { throw new IllegalStateException("Case statement didn't deal with cigar op: " + curElement.getOperator()); } - if (generateExtendedEvents) { - if (eventDelayedFlag > 0 && done) { - // if we did make a successful step on the ref, decrement delayed flag. If, upon the decrementing the, - // the flag is 1, we are standing on the reference base right after the indel (so we have to keep it). - // Otherwise, we are away from the previous indel and have to clear our memories... - eventDelayedFlag--; // when we notice an indel, we set delayed flag to 2, so now - // if eventDelayedFlag == 1, an indel occured right before the current base - if (eventDelayedFlag == 0) { - eventLength = -1; // reset event when we are past it - insertedBases = null; - eventStart = -1; - } - } - } - return done ? curElement.getOperator() : stepForwardOnGenome(); } } @@ -374,147 +282,69 @@ public class LocusIteratorByState extends LocusIterator { // this call will set hasExtendedEvents to true if it picks up a read with indel right before the current position on the ref: readStates.collectPendingReads(); - int size = 0; - int nDeletions = 0; - int nInsertions = 0; - int nMQ0Reads = 0; + final GenomeLoc location = getLocation(); + final Map fullPileup = new HashMap(); + boolean hasBeenSampled = false; + for (final String sample : samples) { + final Iterator iterator = readStates.iterator(sample); + final List pile = new ArrayList(readStates.size(sample)); + hasBeenSampled |= location.getStart() <= readStates.getDownsamplingExtent(sample); + int size = 0; // number of elements in this sample's pileup + int nDeletions = 0; // number of deletions in this sample's pileup + int nMQ0Reads = 0; // number of MQ0 reads in this sample's pileup (warning: current implementation includes N bases that are MQ0) - // if extended events are requested, and if previous traversal step brought us over an indel in - // at least one read, we emit extended pileup (making sure that it is associated with the previous base, - // i.e. the one right *before* the indel) and do NOT shift the current position on the ref. - // In this case, the subsequent call to next() will emit the normal pileup at the current base - // and shift the position. - if (readInfo.generateExtendedEvents() && hasExtendedEvents) { - Map fullExtendedEventPileup = new HashMap(); + while (iterator.hasNext()) { + final SAMRecordState state = iterator.next(); // state object with the read/offset information + final GATKSAMRecord read = (GATKSAMRecord) state.getRead(); // the actual read + final CigarOperator op = state.getCurrentCigarOperator(); // current cigar operator + final CigarElement nextElement = state.peekForwardOnGenome(); // next cigar element + final CigarElement lastElement = state.peekBackwardOnGenome(); // last cigar element + final CigarOperator nextOp = nextElement.getOperator(); // next cigar operator + final CigarOperator lastOp = lastElement.getOperator(); // last cigar operator + final int readOffset = state.getReadOffset(); // the base offset on this read - // get current location on the reference and decrement it by 1: the indels we just stepped over - // are associated with the *previous* reference base - GenomeLoc loc = genomeLocParser.incPos(getLocation(), -1); + final boolean isBeforeDeletion = nextOp == CigarOperator.DELETION; + final boolean isAfterDeletion = lastOp == CigarOperator.DELETION; + final boolean isBeforeInsertion = nextOp == CigarOperator.INSERTION; + final boolean isAfterInsertion = lastOp == CigarOperator.INSERTION; + final boolean isNextToSoftClip = nextOp == CigarOperator.S || (state.getGenomeOffset() == 0 && read.getSoftStart() != read.getAlignmentStart()); - boolean hasBeenSampled = false; - for (final String sample : samples) { - Iterator iterator = readStates.iterator(sample); - List indelPile = new ArrayList(readStates.size(sample)); - hasBeenSampled |= loc.getStart() <= readStates.getDownsamplingExtent(sample); + int nextElementLength = nextElement.getLength(); - size = 0; - nDeletions = 0; - nInsertions = 0; - nMQ0Reads = 0; - int maxDeletionLength = 0; + if (op == CigarOperator.N) // N's are never added to any pileup + continue; - while (iterator.hasNext()) { - final SAMRecordState state = iterator.next(); - final GATKSAMRecord read = (GATKSAMRecord) state.getRead(); // the actual read - final CigarOperator op = state.getCurrentCigarOperator(); // current cigar operator - final int readOffset = state.getReadOffset(); // the base offset on this read - final int eventStartOffset = state.getReadEventStartOffset(); // this will be -1 if base is not a deletion, or if base is the first deletion in the event. Otherwise, it will give the last base before the deletion began. - final int eventLength = state.getEventLength(); - - if (op == CigarOperator.N) // N's are never added to any pileup - continue; - - if (state.hadIndel()) { // this read has an indel associated with the previous position on the ref + if (op == CigarOperator.D) { + if (readInfo.includeReadsWithDeletionAtLoci()) { // only add deletions to the pileup if we are authorized to do so + pile.add(new PileupElement(read, readOffset, true, isBeforeDeletion, isAfterDeletion, isBeforeInsertion, isAfterInsertion, isNextToSoftClip, null, nextOp == CigarOperator.D ? nextElementLength : -1)); size++; - ExtendedEventPileupElement pileupElement; - if (state.getEventBases() == null) { // Deletion event - nDeletions++; - maxDeletionLength = Math.max(maxDeletionLength, state.getEventLength()); - pileupElement = new ExtendedEventPileupElement(read, eventStartOffset, eventLength); - } - else { // Insertion event - nInsertions++; - pileupElement = new ExtendedEventPileupElement(read, eventStartOffset, eventLength, state.getEventBases()); - } - if (read.getMappingQuality() == 0) - nMQ0Reads++; - - indelPile.add(pileupElement); - } - - // this read has no indel so add it to the pileup as a NOEVENT: - // a deletion that didn't start here (therefore, not an extended event) - // we add (mis)matches as no events. - else if (op != CigarOperator.D || readInfo.includeReadsWithDeletionAtLoci()) { - size++; - indelPile.add(new ExtendedEventPileupElement((GATKSAMRecord) state.getRead(), readOffset)); + nDeletions++; if (read.getMappingQuality() == 0) nMQ0Reads++; } } + else { + if (!filterBaseInRead(read, location.getStart())) { + String insertedBaseString = null; + if (nextOp == CigarOperator.I) + insertedBaseString = new String(Arrays.copyOfRange(read.getReadBases(), readOffset + 1, readOffset + 1 + nextElement.getLength())); - if (indelPile.size() != 0) - fullExtendedEventPileup.put(sample, new ReadBackedExtendedEventPileupImpl(loc, indelPile, size, maxDeletionLength, nInsertions, nDeletions, nMQ0Reads)); - } - hasExtendedEvents = false; // we are done with extended events prior to current ref base - nextAlignmentContext = new AlignmentContext(loc, new ReadBackedExtendedEventPileupImpl(loc, fullExtendedEventPileup), hasBeenSampled); - } - else { // this is a regular event pileup (not extended) - GenomeLoc location = getLocation(); - Map fullPileup = new HashMap(); - boolean hasBeenSampled = false; - for (final String sample : samples) { - Iterator iterator = readStates.iterator(sample); - List pile = new ArrayList(readStates.size(sample)); - hasBeenSampled |= location.getStart() <= readStates.getDownsamplingExtent(sample); - - size = 0; // number of elements in this sample's pileup - nDeletions = 0; // number of deletions in this sample's pileup - nMQ0Reads = 0; // number of MQ0 reads in this sample's pileup (warning: current implementation includes N bases that are MQ0) - - while (iterator.hasNext()) { - final SAMRecordState state = iterator.next(); // state object with the read/offset information - final GATKSAMRecord read = (GATKSAMRecord) state.getRead(); // the actual read - final CigarOperator op = state.getCurrentCigarOperator(); // current cigar operator - final CigarElement nextElement = state.peekForwardOnGenome(); // next cigar element - final CigarElement lastElement = state.peekBackwardOnGenome(); // last cigar element - final CigarOperator nextOp = nextElement.getOperator(); // next cigar operator - final CigarOperator lastOp = lastElement.getOperator(); // last cigar operator - final int readOffset = state.getReadOffset(); // the base offset on this read - - final boolean isBeforeDeletion = nextOp == CigarOperator.DELETION; - final boolean isAfterDeletion = lastOp == CigarOperator.DELETION; - final boolean isBeforeInsertion = nextOp == CigarOperator.INSERTION; - final boolean isAfterInsertion = lastOp == CigarOperator.INSERTION; - final boolean isNextToSoftClip = nextOp == CigarOperator.S || (state.getGenomeOffset() == 0 && read.getSoftStart() != read.getAlignmentStart()); - - int nextElementLength = nextElement.getLength(); - - if (op == CigarOperator.N) // N's are never added to any pileup - continue; - - if (op == CigarOperator.D) { - if (readInfo.includeReadsWithDeletionAtLoci()) { // only add deletions to the pileup if we are authorized to do so - pile.add(new PileupElement(read, readOffset, true, isBeforeDeletion, isAfterDeletion, isBeforeInsertion, isAfterInsertion, isNextToSoftClip, null, nextOp == CigarOperator.D ? nextElementLength : -1)); - size++; - nDeletions++; - if (read.getMappingQuality() == 0) - nMQ0Reads++; - } - } - else { - if (!filterBaseInRead(read, location.getStart())) { - String insertedBaseString = null; - if (nextOp == CigarOperator.I) - insertedBaseString = new String(Arrays.copyOfRange(read.getReadBases(), readOffset + 1, readOffset + 1 + nextElement.getLength())); - - pile.add(new PileupElement(read, readOffset, false, isBeforeDeletion, isAfterDeletion, isBeforeInsertion, isAfterInsertion, isNextToSoftClip, insertedBaseString, nextElementLength)); - size++; - if (read.getMappingQuality() == 0) - nMQ0Reads++; - } + pile.add(new PileupElement(read, readOffset, false, isBeforeDeletion, isAfterDeletion, isBeforeInsertion, isAfterInsertion, isNextToSoftClip, insertedBaseString, nextElementLength)); + size++; + if (read.getMappingQuality() == 0) + nMQ0Reads++; } } - - if (pile.size() != 0) // if this pileup added at least one base, add it to the full pileup - fullPileup.put(sample, new ReadBackedPileupImpl(location, pile, size, nDeletions, nMQ0Reads)); } - updateReadStates(); // critical - must be called after we get the current state offsets and location - if (!fullPileup.isEmpty()) // if we got reads with non-D/N over the current position, we are done - nextAlignmentContext = new AlignmentContext(location, new ReadBackedPileupImpl(location, fullPileup), hasBeenSampled); + if (pile.size() != 0) // if this pileup added at least one base, add it to the full pileup + fullPileup.put(sample, new ReadBackedPileupImpl(location, pile, size, nDeletions, nMQ0Reads)); } + + updateReadStates(); // critical - must be called after we get the current state offsets and location + if (!fullPileup.isEmpty()) // if we got reads with non-D/N over the current position, we are done + nextAlignmentContext = new AlignmentContext(location, new ReadBackedPileupImpl(location, fullPileup), hasBeenSampled); } } @@ -546,9 +376,7 @@ public class LocusIteratorByState extends LocusIterator { while (it.hasNext()) { SAMRecordState state = it.next(); CigarOperator op = state.stepForwardOnGenome(); - if (state.hadIndel() && readInfo.generateExtendedEvents()) - hasExtendedEvents = true; - else if (op == null) { + if (op == null) { // we discard the read only when we are past its end AND indel at the end of the read (if any) was // already processed. Keeping the read state that retunred null upon stepForwardOnGenome() is safe // as the next call to stepForwardOnGenome() will return null again AND will clear hadIndel() flag. @@ -757,12 +585,9 @@ public class LocusIteratorByState extends LocusIterator { int readCount = 0; for (SAMRecord read : reads) { if (readCount < maxReads) { - SAMRecordState state = new SAMRecordState(read, readInfo.generateExtendedEvents()); + SAMRecordState state = new SAMRecordState(read); state.stepForwardOnGenome(); newReadStates.add(state); - // TODO: What if we downsample the extended events away? - if (state.hadIndel()) - hasExtendedEvents = true; readCount++; } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/phonehome/GATKRunReport.java b/public/java/src/org/broadinstitute/sting/gatk/phonehome/GATKRunReport.java index 3bc336124..f190cbcfd 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/phonehome/GATKRunReport.java +++ b/public/java/src/org/broadinstitute/sting/gatk/phonehome/GATKRunReport.java @@ -52,6 +52,7 @@ import java.util.ArrayList; import java.util.Arrays; import java.util.Date; import java.util.List; +import java.util.concurrent.atomic.AtomicBoolean; import java.util.zip.GZIPOutputStream; @@ -84,6 +85,10 @@ public class GATKRunReport { */ private static File REPORT_SENTINEL = new File(REPORT_DIR.getAbsolutePath() + "/ENABLE"); + // number of milliseconds before the S3 put operation is timed-out: + private static final long S3PutTimeOut = 30 * 1000; + + /** * our log */ @@ -263,6 +268,58 @@ public class GATKRunReport { } } + private class S3PutRunnable implements Runnable { + + public AtomicBoolean isSuccess; + private final String key; + private final byte[] report; + + public S3Object s3Object; + public String errorMsg; + public Throwable errorThrow; + + public S3PutRunnable(String key, byte[] report){ + isSuccess = new AtomicBoolean(); + this.key = key; + this.report = report; + } + + public void run() { + try { + // Your Amazon Web Services (AWS) login credentials are required to manage S3 accounts. These credentials + // are stored in an AWSCredentials object: + + // IAM GATK user credentials -- only right is to PutObject into GATK_Run_Report bucket + String awsAccessKey = "AKIAJXU7VIHBPDW4TDSQ"; // GATK AWS user + String awsSecretKey = "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"; // GATK AWS user + AWSCredentials awsCredentials = new AWSCredentials(awsAccessKey, awsSecretKey); + + // To communicate with S3, create a class that implements an S3Service. We will use the REST/HTTP + // implementation based on HttpClient, as this is the most robust implementation provided with JetS3t. + S3Service s3Service = new RestS3Service(awsCredentials); + + // Create an S3Object based on a file, with Content-Length set automatically and + // Content-Type set based on the file's extension (using the Mimetypes utility class) + S3Object fileObject = new S3Object(key, report); + //logger.info("Created S3Object" + fileObject); + //logger.info("Uploading " + localFile + " to AWS bucket"); + s3Object = s3Service.putObject(REPORT_BUCKET_NAME, fileObject); + isSuccess.set(true); + } catch ( S3ServiceException e ) { + setException("S3 exception occurred", e); + } catch ( NoSuchAlgorithmException e ) { + setException("Couldn't calculate MD5", e); + } catch ( IOException e ) { + setException("Couldn't read report file", e); + } + } + + private void setException(String msg, Throwable e){ + errorMsg=msg; + errorThrow=e; + } + } + private void postReportToAWSS3() { // modifying example code from http://jets3t.s3.amazonaws.com/toolkit/code-samples.html this.hostName = Utils.resolveHostname(); // we want to fill in the host name @@ -280,32 +337,32 @@ public class GATKRunReport { Logger mimeTypeLogger = Logger.getLogger(org.jets3t.service.utils.Mimetypes.class); mimeTypeLogger.setLevel(Level.FATAL); - // Your Amazon Web Services (AWS) login credentials are required to manage S3 accounts. These credentials - // are stored in an AWSCredentials object: + // Set the S3 upload on its own thread with timeout: + S3PutRunnable s3run = new S3PutRunnable(key,report); + Thread s3thread = new Thread(s3run); + s3thread.setDaemon(true); + s3thread.setName("S3Put-Thread"); + s3thread.start(); - // IAM GATK user credentials -- only right is to PutObject into GATK_Run_Report bucket - String awsAccessKey = "AKIAJXU7VIHBPDW4TDSQ"; // GATK AWS user - String awsSecretKey = "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"; // GATK AWS user - AWSCredentials awsCredentials = new AWSCredentials(awsAccessKey, awsSecretKey); + s3thread.join(S3PutTimeOut); - // To communicate with S3, create a class that implements an S3Service. We will use the REST/HTTP - // implementation based on HttpClient, as this is the most robust implementation provided with JetS3t. - S3Service s3Service = new RestS3Service(awsCredentials); - - // Create an S3Object based on a file, with Content-Length set automatically and - // Content-Type set based on the file's extension (using the Mimetypes utility class) - S3Object fileObject = new S3Object(key, report); - //logger.info("Created S3Object" + fileObject); - //logger.info("Uploading " + localFile + " to AWS bucket"); - S3Object s3Object = s3Service.putObject(REPORT_BUCKET_NAME, fileObject); - logger.debug("Uploaded to AWS: " + s3Object); - logger.info("Uploaded run statistics report to AWS S3"); - } catch ( S3ServiceException e ) { - exceptDuringRunReport("S3 exception occurred", e); - } catch ( NoSuchAlgorithmException e ) { - exceptDuringRunReport("Couldn't calculate MD5", e); + if(s3thread.isAlive()){ + s3thread.interrupt(); + exceptDuringRunReport("Run statistics report upload to AWS S3 timed-out"); + } else if(s3run.isSuccess.get()) { + logger.info("Uploaded run statistics report to AWS S3"); + logger.debug("Uploaded to AWS: " + s3run.s3Object); + } else { + if((s3run.errorMsg != null) && (s3run.errorThrow != null)){ + exceptDuringRunReport(s3run.errorMsg,s3run.errorThrow); + } else { + exceptDuringRunReport("Run statistics report upload to AWS S3 failed"); + } + } } catch ( IOException e ) { exceptDuringRunReport("Couldn't read report file", e); + } catch ( InterruptedException e) { + exceptDuringRunReport("Run statistics report upload interrupted", e); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/refdata/ReferenceDependentFeatureCodec.java b/public/java/src/org/broadinstitute/sting/gatk/refdata/ReferenceDependentFeatureCodec.java index b4427c228..d24686ad7 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/refdata/ReferenceDependentFeatureCodec.java +++ b/public/java/src/org/broadinstitute/sting/gatk/refdata/ReferenceDependentFeatureCodec.java @@ -33,7 +33,7 @@ import org.broadinstitute.sting.utils.GenomeLocParser; * A HACK. Tribble should contain all the information in needs to decode the unqualified position of * a feature. */ -public interface ReferenceDependentFeatureCodec extends FeatureCodec { +public interface ReferenceDependentFeatureCodec { /** * Sets the appropriate GenomeLocParser, providing additional context when decoding larger and more variable features. * @param genomeLocParser The parser to supply. diff --git a/public/java/src/org/broadinstitute/sting/gatk/refdata/VariantContextAdaptors.java b/public/java/src/org/broadinstitute/sting/gatk/refdata/VariantContextAdaptors.java index 09ae02bd9..fe069c2d9 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/refdata/VariantContextAdaptors.java +++ b/public/java/src/org/broadinstitute/sting/gatk/refdata/VariantContextAdaptors.java @@ -251,7 +251,7 @@ public class VariantContextAdaptors { Map attributes = new HashMap(); Collection genotypes = new ArrayList(); - Genotype call = new Genotype(name, genotypeAlleles); + Genotype call = GenotypeBuilder.create(name, genotypeAlleles); // add the call to the genotype list, and then use this list to create a VariantContext genotypes.add(call); @@ -344,7 +344,7 @@ public class VariantContextAdaptors { alleles.add(allele2); } - Genotype g = new Genotype(samples[i], myAlleles); + Genotype g = GenotypeBuilder.create(samples[i], myAlleles); genotypes.add(g); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManager.java b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManager.java index 55dd50334..b5d5deedb 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManager.java +++ b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManager.java @@ -33,6 +33,9 @@ import org.broadinstitute.sting.gatk.refdata.ReferenceDependentFeatureCodec; import org.broadinstitute.sting.gatk.refdata.utils.RMDTriplet; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.classloader.PluginManager; +import org.broadinstitute.sting.utils.codecs.vcf.AbstractVCFCodec; +import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.help.GATKDocUtils; @@ -82,11 +85,19 @@ public class FeatureManager { private final PluginManager pluginManager; private final Collection featureDescriptors = new TreeSet(); + private final VCFHeader headerForRepairs; + private final boolean lenientVCFProcessing; /** - * Construct a FeatureManager + * Construct a FeatureManager without a master VCF header */ public FeatureManager() { + this(null, false); + } + + public FeatureManager(final VCFHeader headerForRepairs, final boolean lenientVCFProcessing) { + this.headerForRepairs = headerForRepairs; + this.lenientVCFProcessing = lenientVCFProcessing; pluginManager = new PluginManager(FeatureCodec.class, "Codecs", "Codec"); for (final String rawName: pluginManager.getPluginsByName().keySet()) { @@ -244,6 +255,11 @@ public class FeatureManager { ((NameAwareCodec)codex).setName(name); if ( codex instanceof ReferenceDependentFeatureCodec ) ((ReferenceDependentFeatureCodec)codex).setGenomeLocParser(genomeLocParser); + if ( codex instanceof VCFCodec ) + ((VCFCodec)codex).setHeaderForRepairs(headerForRepairs); + if ( codex instanceof AbstractVCFCodec && lenientVCFProcessing ) + ((AbstractVCFCodec)codex).disableOnTheFlyModifications(); + return codex; } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrack.java b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrack.java index 7aa112961..96bc874e0 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrack.java +++ b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrack.java @@ -26,11 +26,10 @@ package org.broadinstitute.sting.gatk.refdata.tracks; import net.sf.samtools.SAMSequenceDictionary; import net.sf.samtools.util.CloseableIterator; import org.apache.log4j.Logger; +import org.broad.tribble.AbstractFeatureReader; +import org.broad.tribble.CloseableTribbleIterator; import org.broad.tribble.Feature; import org.broad.tribble.FeatureCodec; -import org.broad.tribble.FeatureSource; -import org.broad.tribble.iterators.CloseableTribbleIterator; -import org.broad.tribble.source.PerformanceLoggingFeatureSource; import org.broadinstitute.sting.gatk.refdata.utils.FeatureToGATKFeatureIterator; import org.broadinstitute.sting.gatk.refdata.utils.GATKFeature; import org.broadinstitute.sting.utils.GenomeLoc; @@ -57,7 +56,7 @@ public class RMDTrack { private final File file; // the associated file we create the reader from // our feature reader - allows queries - private FeatureSource reader; + private AbstractFeatureReader reader; // our sequence dictionary, which can be null private final SAMSequenceDictionary dictionary; @@ -92,7 +91,7 @@ public class RMDTrack { * @param dict the sam sequence dictionary * @param codec the feature codec we use to decode this type */ - public RMDTrack(Class type, String name, File file, FeatureSource reader, SAMSequenceDictionary dict, GenomeLocParser genomeLocParser, FeatureCodec codec) { + public RMDTrack(Class type, String name, File file, AbstractFeatureReader reader, SAMSequenceDictionary dict, GenomeLocParser genomeLocParser, FeatureCodec codec) { this.type = type; this.name = name; this.file = file; @@ -116,8 +115,6 @@ public class RMDTrack { public CloseableIterator query(GenomeLoc interval) throws IOException { CloseableTribbleIterator iter = reader.query(interval.getContig(),interval.getStart(),interval.getStop()); - if ( RMDTrackBuilder.MEASURE_TRIBBLE_QUERY_PERFORMANCE ) - logger.warn("Query " + getName() + ":" + ((PerformanceLoggingFeatureSource)reader).getPerformanceLog()); return new FeatureToGATKFeatureIterator(genomeLocParser, iter, this.getName()); } @@ -130,10 +127,6 @@ public class RMDTrack { reader = null; } - public FeatureSource getReader() { - return reader; - } - /** * get the sequence dictionary from the track, if available * @return a SAMSequenceDictionary if available, null if unavailable diff --git a/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilder.java b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilder.java index edb514984..e183fe169 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilder.java +++ b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/RMDTrackBuilder.java @@ -26,20 +26,20 @@ package org.broadinstitute.sting.gatk.refdata.tracks; import net.sf.samtools.SAMSequenceDictionary; import org.apache.log4j.Logger; +import org.broad.tribble.AbstractFeatureReader; import org.broad.tribble.FeatureCodec; -import org.broad.tribble.FeatureSource; import org.broad.tribble.Tribble; import org.broad.tribble.TribbleException; import org.broad.tribble.index.Index; import org.broad.tribble.index.IndexFactory; -import org.broad.tribble.source.BasicFeatureSource; -import org.broad.tribble.source.PerformanceLoggingFeatureSource; import org.broad.tribble.util.LittleEndianOutputStream; import org.broadinstitute.sting.commandline.Tags; +import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.arguments.ValidationExclusion; import org.broadinstitute.sting.gatk.refdata.utils.RMDTriplet; import org.broadinstitute.sting.gatk.refdata.utils.RMDTriplet.RMDStorageType; import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; @@ -67,22 +67,21 @@ public class RMDTrackBuilder { // extends PluginManager { * our log, which we use to capture anything from this class */ private final static Logger logger = Logger.getLogger(RMDTrackBuilder.class); - public final static boolean MEASURE_TRIBBLE_QUERY_PERFORMANCE = false; // private sequence dictionary we use to set our tracks with - private SAMSequenceDictionary dict = null; + private final SAMSequenceDictionary dict; /** * Private genome loc parser to use when building out new locs. */ - private GenomeLocParser genomeLocParser; + private final GenomeLocParser genomeLocParser; /** * Validation exclusions, for validating the sequence dictionary. */ private ValidationExclusion.TYPE validationExclusionType; - FeatureManager featureManager; + private final FeatureManager featureManager; /** * Construct an RMDTrackerBuilder, allowing the user to define tracks to build after-the-fact. This is generally @@ -90,21 +89,40 @@ public class RMDTrackBuilder { // extends PluginManager { * please talk through your approach with the SE team. * @param dict Sequence dictionary to use. * @param genomeLocParser Location parser to use. + * @param headerForRepairs a VCF header that should be used to repair VCF headers. Can be null * @param validationExclusionType Types of validations to exclude, for sequence dictionary verification. */ - public RMDTrackBuilder(SAMSequenceDictionary dict, - GenomeLocParser genomeLocParser, + public RMDTrackBuilder(final SAMSequenceDictionary dict, + final GenomeLocParser genomeLocParser, + final VCFHeader headerForRepairs, ValidationExclusion.TYPE validationExclusionType) { this.dict = dict; this.validationExclusionType = validationExclusionType; this.genomeLocParser = genomeLocParser; - featureManager = new FeatureManager(); + this.featureManager = new FeatureManager(headerForRepairs, GenomeAnalysisEngine.lenientVCFProcessing(validationExclusionType)); } + /** + * Return the feature manager this RMDTrackBuilder is using the create tribble tracks + * + * @return + */ public FeatureManager getFeatureManager() { return featureManager; } + /** + * Same as full constructor but makes one without a header for repairs + * @param dict + * @param genomeLocParser + * @param validationExclusionType + */ + public RMDTrackBuilder(final SAMSequenceDictionary dict, + final GenomeLocParser genomeLocParser, + ValidationExclusion.TYPE validationExclusionType) { + this(dict, genomeLocParser, null, validationExclusionType); + } + /** * create a RMDTrack of the specified type * @@ -121,7 +139,7 @@ public class RMDTrackBuilder { // extends PluginManager { throw new UserException.BadArgumentValue("-B",fileDescriptor.getType()); // return a feature reader track - Pair pair; + Pair pair; if (inputFile.getAbsolutePath().endsWith(".gz")) pair = createTabixIndexedFeatureSource(descriptor, name, inputFile); else @@ -155,11 +173,11 @@ public class RMDTrackBuilder { // extends PluginManager { * @param inputFile the file to load * @return a feature reader implementation */ - private Pair createTabixIndexedFeatureSource(FeatureManager.FeatureDescriptor descriptor, String name, File inputFile) { + private Pair createTabixIndexedFeatureSource(FeatureManager.FeatureDescriptor descriptor, String name, File inputFile) { // we might not know the index type, try loading with the default reader constructor logger.info("Attempting to blindly load " + inputFile + " as a tabix indexed file"); try { - return new Pair(BasicFeatureSource.getFeatureSource(inputFile.getAbsolutePath(), createCodec(descriptor, name)),null); + return new Pair(AbstractFeatureReader.getFeatureReader(inputFile.getAbsolutePath(), createCodec(descriptor, name)),null); } catch (TribbleException e) { throw new UserException(e.getMessage(), e); } @@ -183,12 +201,12 @@ public class RMDTrackBuilder { // extends PluginManager { * @param storageType How the RMD is streamed into the input file. * @return the input file as a FeatureReader */ - private Pair getFeatureSource(FeatureManager.FeatureDescriptor descriptor, + private Pair getFeatureSource(FeatureManager.FeatureDescriptor descriptor, String name, File inputFile, RMDStorageType storageType) { // Feature source and sequence dictionary to use as the ultimate reference - FeatureSource featureSource = null; + AbstractFeatureReader featureSource = null; SAMSequenceDictionary sequenceDictionary = null; // Detect whether or not this source should be indexed. @@ -215,10 +233,7 @@ public class RMDTrackBuilder { // extends PluginManager { sequenceDictionary = IndexDictionaryUtils.getSequenceDictionaryFromProperties(index); } - if ( MEASURE_TRIBBLE_QUERY_PERFORMANCE ) - featureSource = new PerformanceLoggingFeatureSource(inputFile.getAbsolutePath(), index, createCodec(descriptor, name)); - else - featureSource = new BasicFeatureSource(inputFile.getAbsolutePath(), index, createCodec(descriptor, name)); + featureSource = AbstractFeatureReader.getFeatureReader(inputFile.getAbsolutePath(), createCodec(descriptor, name), index); } catch (TribbleException e) { throw new UserException(e.getMessage()); @@ -228,10 +243,10 @@ public class RMDTrackBuilder { // extends PluginManager { } } else { - featureSource = BasicFeatureSource.getFeatureSource(inputFile.getAbsolutePath(),createCodec(descriptor, name),false); + featureSource = AbstractFeatureReader.getFeatureReader(inputFile.getAbsolutePath(), createCodec(descriptor, name), false); } - return new Pair(featureSource,sequenceDictionary); + return new Pair(featureSource,sequenceDictionary); } /** @@ -358,7 +373,7 @@ public class RMDTrackBuilder { // extends PluginManager { private Index createIndexInMemory(File inputFile, FeatureCodec codec) { // this can take a while, let them know what we're doing logger.info("Creating Tribble index in memory for file " + inputFile); - Index idx = IndexFactory.createIndex(inputFile, codec, IndexFactory.IndexBalanceApproach.FOR_SEEK_TIME); + Index idx = IndexFactory.createDynamicIndex(inputFile, codec, IndexFactory.IndexBalanceApproach.FOR_SEEK_TIME); validateAndUpdateIndexSequenceDictionary(inputFile, idx, dict); return idx; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/refdata/utils/FeatureToGATKFeatureIterator.java b/public/java/src/org/broadinstitute/sting/gatk/refdata/utils/FeatureToGATKFeatureIterator.java index 104ba87b5..931c0741f 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/refdata/utils/FeatureToGATKFeatureIterator.java +++ b/public/java/src/org/broadinstitute/sting/gatk/refdata/utils/FeatureToGATKFeatureIterator.java @@ -24,8 +24,8 @@ package org.broadinstitute.sting.gatk.refdata.utils; import net.sf.samtools.util.CloseableIterator; +import org.broad.tribble.CloseableTribbleIterator; import org.broad.tribble.Feature; -import org.broad.tribble.iterators.CloseableTribbleIterator; import org.broadinstitute.sting.utils.GenomeLocParser; @@ -65,6 +65,8 @@ public class FeatureToGATKFeatureIterator implements CloseableIterator gatkReportTables) { - for (GATKReportTable table : gatkReportTables) + public void addTables(List gatkReportTableV2s) { + for ( GATKReportTable table : gatkReportTableV2s ) addTable(table); } @@ -187,20 +187,19 @@ public class GATKReport { /** * This is the main function is charge of gathering the reports. It checks that the reports are compatible and then - * calls the table atheirng functions. + * calls the table gathering functions. * * @param input another GATKReport of the same format */ - public void combineWith(GATKReport input) { + public void concat(GATKReport input) { - if (!this.isSameFormat(input)) { + if ( !isSameFormat(input) ) { throw new ReviewedStingException("Failed to combine GATKReport, format doesn't match!"); } - for (String tableName : input.tables.keySet()) { - tables.get(tableName).combineWith(input.getTable(tableName)); + for ( Map.Entry table : tables.entrySet() ) { + table.getValue().concat(input.getTable(table.getKey())); } - } public GATKReportVersion getVersion() { @@ -271,9 +270,43 @@ public class GATKReport { * @param columns The names of the columns in your table * @return a simplified GATK report */ - public static GATKReport newSimpleReport(String tableName, String... columns) { - GATKReportTable table = new GATKReportTable(tableName, "A simplified GATK table report"); - table.addPrimaryKey("id", false); + public static GATKReport newSimpleReport(final String tableName, final String... columns) { + GATKReportTable table = new GATKReportTable(tableName, "A simplified GATK table report", columns.length); + + for (String column : columns) { + table.addColumn(column, ""); + } + + GATKReport output = new GATKReport(); + output.addTable(table); + + return output; + } + + /** + * The constructor for a simplified GATK Report. Simplified GATK report are designed for reports that do not need + * the advanced functionality of a full GATK Report. + *

+ * A simple GATK Report consists of: + *

+ * - A single table + * - No primary key ( it is hidden ) + *

+ * Optional: + * - Only untyped columns. As long as the data is an Object, it will be accepted. + * - Default column values being empty strings. + *

+ * Limitations: + *

+ * - A simple GATK report cannot contain multiple tables. + * - It cannot contain typed columns, which prevents arithmetic gathering. + * + * @param tableName The name of your simple GATK report table + * @param columns The names of the columns in your table + * @return a simplified GATK report + */ + public static GATKReport newSimpleReport(final String tableName, final List columns) { + GATKReportTable table = new GATKReportTable(tableName, "A simplified GATK table report", columns.size()); for (String column : columns) { table.addColumn(column, ""); @@ -289,48 +322,43 @@ public class GATKReport { * This method provides an efficient way to populate a simplified GATK report. This method will only work on reports * that qualify as simplified GATK reports. See the newSimpleReport() constructor for more information. * - * @param values the row of data to be added to the table. + * @param values the row of data to be added to the table. * Note: the number of arguments must match the columns in the table. */ - public void addRow(Object... values) { - // Must be a simplified GATK Report - if (isSimpleReport()) { - - GATKReportTable table = tables.firstEntry().getValue(); - if (table.getColumns().size() != values.length) { - throw new StingException("The number of arguments in addRow() must match the number of columns in the table"); - } - - int counter = table.getNumRows() + 1; - int i = 0; - - for (String columnName : table.getColumns().keySet()) { - table.set(counter, columnName, values[i]); - i++; - } - - } else { - throw new StingException("Cannot add a Row to a non-Simplified GATK Report"); - } + public void addRow(final Object... values) { + // Must be a simple report + if ( tables.size() != 1 ) + throw new ReviewedStingException("Cannot write a row to a complex GATK Report"); + GATKReportTable table = tables.firstEntry().getValue(); + if ( table.getNumColumns() != values.length ) + throw new ReviewedStingException("The number of arguments in writeRow() must match the number of columns in the table"); + final int rowIndex = table.getNumRows(); + for ( int i = 0; i < values.length; i++ ) + table.set(rowIndex, i, values[i]); } /** - * Checks if the GATK report qualifies as a "simple" GATK report + * This method provides an efficient way to populate a simplified GATK report. This method will only work on reports + * that qualify as simplified GATK reports. See the newSimpleReport() constructor for more information. * - * @return true is the report is a simplified GATK report + * @param values the row of data to be added to the table. + * Note: the number of arguments must match the columns in the table. */ - private boolean isSimpleReport() { - if (tables.size() != 1) - return false; + public void addRowList(final List values) { + if ( tables.size() != 1 ) + throw new ReviewedStingException("Cannot write a row to a complex GATK Report"); GATKReportTable table = tables.firstEntry().getValue(); + if ( table.getNumColumns() != values.size() ) + throw new ReviewedStingException("The number of arguments in writeRow() must match the number of columns in the table"); - if (!table.getPrimaryKeyName().equals("id")) - return false; - - return true; - + final int rowIndex = table.getNumRows(); + int idx = 0; + for ( Object value : values ) { + table.set(rowIndex,idx,value); + idx++; + } } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportColumn.java b/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportColumn.java index 1e798143a..c4ec8bdd6 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportColumn.java +++ b/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportColumn.java @@ -28,20 +28,17 @@ import org.apache.commons.lang.math.NumberUtils; import java.util.Arrays; import java.util.Collection; -import java.util.LinkedHashMap; /** - * Holds values for a column in a GATK report table + * column information within a GATK report table */ -public class GATKReportColumn extends LinkedHashMap { +public class GATKReportColumn { final private String columnName; - final private Object defaultValue; final private String format; - final private boolean display; final private GATKReportDataType dataType; private GATKReportColumnFormat columnFormat; - private GATKReportColumnFormat.Alignment alignment = GATKReportColumnFormat.Alignment.RIGHT; // default alignment is to the right unless values added ask for a left alignment + private GATKReportColumnFormat.Alignment alignment = GATKReportColumnFormat.Alignment.RIGHT; // default alignment is to the right unless values added ask for a left alignment private int maxWidth = 0; /** @@ -49,72 +46,21 @@ public class GATKReportColumn extends LinkedHashMap { * displayed, and the format string. This cannot be null. * * @param columnName the name of the column - * @param defaultValue the default value of the column - * @param display if true, the column will be displayed in the final output * @param format format string */ - public GATKReportColumn(String columnName, Object defaultValue, boolean display, String format) { + public GATKReportColumn(final String columnName, final String format) { this.columnName = columnName; this.maxWidth = columnName.length(); - this.display = display; if ( format.equals("") ) { this.format = "%s"; this.dataType = GATKReportDataType.Unknown; - this.defaultValue = (defaultValue != null) ? defaultValue : ""; } else { this.format = format; this.dataType = GATKReportDataType.fromFormatString(format); - this.defaultValue = (defaultValue != null) ? defaultValue : dataType.getDefaultValue(); } } - /** - * Initialize an element in the column with a default value - * - * @param primaryKey the primary key position in the column that should be set - */ - public void initialize(Object primaryKey) { - this.put(primaryKey, defaultValue); - } - - /** - * Return an object from the column, but if it doesn't exist, return the default value. This is useful when writing - * tables, as the table gets written properly without having to waste storage for the unset elements (usually the - * zero - * values) in the table. - * - * @param primaryKey the primary key position in the column that should be retrieved - * @return the value at the specified position in the column, or the default value if the element is not set - */ - private Object getWithoutSideEffects(Object primaryKey) { - if (!this.containsKey(primaryKey)) { - return defaultValue; - } - - return this.get(primaryKey); - } - - /** - * Return an object from the column, but if it doesn't exist, return the default value. - * - * @param primaryKey the primary key position in the column that should be retrieved - * @return the string value at the specified position in the column, or the default value if the element is not set - */ - public String getStringValue(Object primaryKey) { - return formatValue(getWithoutSideEffects(primaryKey)); - } - - /** - * Return the displayable property of the column. If true, the column will be displayed in the final output. - * If not, printing will be suppressed for the contents of the table. - * - * @return true if the column will be displayed, false if otherwise - */ - public boolean isDisplayable() { - return display; - } - /** * Get the display width for this column. This allows the entire column to be displayed with the appropriate, fixed * width. @@ -143,7 +89,7 @@ public class GATKReportColumn extends LinkedHashMap { * @param value to check * @return true if the value is a right alignable */ - protected static boolean isRightAlign(String value) { + protected static boolean isRightAlign(final String value) { return value == null || RIGHT_ALIGN_STRINGS.contains(value) || NumberUtils.isNumber(value.trim()); } @@ -153,7 +99,7 @@ public class GATKReportColumn extends LinkedHashMap { * @param obj The object to convert to a string * @return The string representation of the column */ - private String formatValue(Object obj) { + private String formatValue(final Object obj) { String value; if (obj == null) { value = "null"; @@ -171,61 +117,29 @@ public class GATKReportColumn extends LinkedHashMap { return dataType; } - public boolean isSameFormat(GATKReportColumn that) { - return (dataType.equals(that.dataType) && - columnName.equals(that.columnName) && - display == that.display && - format.equals(that.format) && - defaultValue.equals(that.defaultValue) ); - } - - boolean equals(GATKReportColumn that) { - if ( !this.keySet().equals(that.keySet()) ) { - return false; - } - - for (Object key : keySet()) { - Object ValueA = this.get(key); - Object ValueB = that.get(key); - - //if the value is not equal, (use data type to get the right comparison) - if (!dataType.isEqual(ValueA, ValueB)) { - return false; - } - } - - return true; - } - public String getColumnName() { return columnName; } public String getFormat() { - if ( dataType.equals(GATKReportDataType.Unknown) ) { - return ""; - } - else - return format; + return dataType.equals(GATKReportDataType.Unknown) ? "%s" : format; } - @Override - public Object put(Object key, Object value) { + public void updateFormatting(final Object value) { if (value != null) { - String formatted = formatValue(value); - if (!formatted.equals("")) { + final String formatted = formatValue(value); + if ( formatted.length() > 0 ) { updateMaxWidth(formatted); updateFormat(formatted); } } - return super.put(key, value); } - private void updateMaxWidth(String formatted) { + private void updateMaxWidth(final String formatted) { maxWidth = Math.max(formatted.length(), maxWidth); } - private void updateFormat(String formatted) { + private void updateFormat(final String formatted) { if (alignment == GATKReportColumnFormat.Alignment.RIGHT) alignment = isRightAlign(formatted) ? GATKReportColumnFormat.Alignment.RIGHT : GATKReportColumnFormat.Alignment.LEFT; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportColumns.java b/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportColumns.java deleted file mode 100755 index bb6e3a4f1..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportColumns.java +++ /dev/null @@ -1,106 +0,0 @@ -/* - * Copyright (c) 2012, The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.gatk.report; - -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; - -import java.util.*; - -/** - * Tracks a linked list of GATKReportColumn in order by name. - */ -public class GATKReportColumns extends LinkedHashMap implements Iterable { - private final List columnNames = new ArrayList(); - - /** - * Returns the column by index - * - * @param i the index - * @return The column - */ - public GATKReportColumn getByIndex(int i) { - return get(columnNames.get(i)); - } - - @Override - public GATKReportColumn remove(Object columnName) { - if ( !(columnName instanceof String) ) { - throw new ReviewedStingException("The column name must be a String!"); - } - columnNames.remove(columnName.toString()); - return super.remove(columnName); - } - - @Override - public GATKReportColumn put(String key, GATKReportColumn value) { - columnNames.add(key); - return super.put(key, value); - } - - @Override - public Iterator iterator() { - return new Iterator() { - int offset = 0; - - public boolean hasNext() { - return offset < columnNames.size(); - } - - public GATKReportColumn next() { - return getByIndex(offset++); - } - - public void remove() { - throw new UnsupportedOperationException("Cannot remove from a GATKReportColumn iterator"); - } - }; - } - - public boolean isSameFormat(GATKReportColumns that) { - if (!columnNames.equals(that.columnNames)) { - return false; - } - for (String columnName : columnNames) { - if (!this.get(columnName).isSameFormat(that.get(columnName))) { - return false; - } - } - return true; - } - - boolean equals(GATKReportColumns that) { - for (Map.Entry pair : entrySet()) { - // Make sure that every column is the same, we know that the # of columns - // is the same from isSameFormat() - String key = pair.getKey(); - - if (!get(key).equals(that.get(key))) { - return false; - } - } - - return true; - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportGatherer.java b/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportGatherer.java index ff1f9b90c..04030c4ad 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportGatherer.java +++ b/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportGatherer.java @@ -54,7 +54,7 @@ public class GATKReportGatherer extends Gatherer { isFirst = false; } else { GATKReport toAdd = new GATKReport(input); - current.combineWith(toAdd); + current.concat(toAdd); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportTable.java b/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportTable.java index 6551bf376..7a272e155 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportTable.java +++ b/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportTable.java @@ -24,7 +24,6 @@ package org.broadinstitute.sting.gatk.report; -import org.apache.commons.lang.ObjectUtils; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.text.TextFormattingUtils; @@ -44,123 +43,169 @@ public class GATKReportTable { private static final String SEPARATOR = ":"; private static final String ENDLINE = ":;"; - private String tableName; - private String tableDescription; + private final String tableName; + private final String tableDescription; + private final boolean sortByRowID; - private String primaryKeyName; - private Collection primaryKeyColumn; - private boolean primaryKeyDisplay; - private boolean sortByPrimaryKey = true; - - private GATKReportColumns columns; + private List underlyingData; + private final List columnInfo; + private final Map columnNameToIndex; + private final HashMap rowIdToIndex; private static final String COULD_NOT_READ_HEADER = "Could not read the header of this file -- "; private static final String COULD_NOT_READ_COLUMN_NAMES = "Could not read the column names of this file -- "; private static final String COULD_NOT_READ_DATA_LINE = "Could not read a data line of this table -- "; private static final String COULD_NOT_READ_EMPTY_LINE = "Could not read the last empty line of this table -- "; private static final String OLD_GATK_TABLE_VERSION = "We no longer support older versions of the GATK Tables"; - + + private static final int INITITAL_ARRAY_SIZE = 10000; private static final String NUMBER_CONVERSION_EXCEPTION = "String is a number but is not a long or a double: "; - public GATKReportTable(BufferedReader reader, GATKReportVersion version) { - int counter = 0; + protected enum TableDataHeaderFields { + COLS(2), + ROWS(3), + FORMAT_START(4); - switch (version) { - case V1_0: - int nHeaders = 2; - String[] tableHeaders = new String[nHeaders]; - - // Read in the headers - for (int i = 0; i < nHeaders; i++) { - try { - tableHeaders[i] = reader.readLine(); - } catch (IOException e) { - throw new ReviewedStingException(COULD_NOT_READ_HEADER + e.getMessage()); - } - } - String[] tableData = tableHeaders[0].split(":"); - String[] userData = tableHeaders[1].split(":"); - - // Fill in the fields - tableName = userData[2]; - tableDescription = (userData.length <= 3) ? "" : userData[3]; // table may have no description! (and that's okay) - primaryKeyDisplay = Boolean.parseBoolean(tableData[2]); - columns = new GATKReportColumns(); - - int nColumns = Integer.parseInt(tableData[3]); - int nRows = Integer.parseInt(tableData[4]); - - - // Read column names - String columnLine; + private final int index; + TableDataHeaderFields(int index) { this.index = index; } + public int index() { return index; } + } + + protected enum TableNameHeaderFields { + NAME(2), + DESCRIPTION(3); + + private final int index; + TableNameHeaderFields(int index) { this.index = index; } + public int index() { return index; } + } + + /** + * Construct a new GATK report table from the reader + * Note that the row ID mappings are just the index -> index + * + * @param reader the reader + * @param version the GATK report version + */ + public GATKReportTable(BufferedReader reader, GATKReportVersion version) { + + switch ( version ) { + case V1_1: + // read in the header lines + final String[] tableData, tableNameData; try { - columnLine = reader.readLine(); + tableData = reader.readLine().split(SEPARATOR); + tableNameData = reader.readLine().split(SEPARATOR); + } catch (IOException e) { + throw new ReviewedStingException(COULD_NOT_READ_HEADER + e.getMessage()); + } + + // parse the header fields + tableName = tableNameData[TableNameHeaderFields.NAME.index()]; + tableDescription = (tableNameData.length <= TableNameHeaderFields.DESCRIPTION.index()) ? "" : tableNameData[TableNameHeaderFields.DESCRIPTION.index()]; // table may have no description! (and that's okay) + + // when reading from a file, we do not re-sort the rows + sortByRowID = false; + + // initialize the data + final int nColumns = Integer.parseInt(tableData[TableDataHeaderFields.COLS.index()]); + final int nRows = Integer.parseInt(tableData[TableDataHeaderFields.ROWS.index()]); + underlyingData = new ArrayList(nRows); + columnInfo = new ArrayList(nColumns); + columnNameToIndex = new HashMap(nColumns); + + // when reading from a file, the row ID mapping is just the index + rowIdToIndex = new HashMap(); + for ( int i = 0; i < nRows; i++ ) + rowIdToIndex.put(i, i); + + // read the column names + final String columnLine; + try { + columnLine = reader.readLine(); } catch (IOException e) { throw new ReviewedStingException(COULD_NOT_READ_COLUMN_NAMES); } - - List columnStarts = TextFormattingUtils.getWordStarts(columnLine); - String[] columnNames = TextFormattingUtils.splitFixedWidth(columnLine, columnStarts); - - if (primaryKeyDisplay) { - addPrimaryKey(columnNames[0]); - - } else { - sortByPrimaryKey = true; - addPrimaryKey("id", false); - counter = 1; - } + + final List columnStarts = TextFormattingUtils.getWordStarts(columnLine); + final String[] columnNames = TextFormattingUtils.splitFixedWidth(columnLine, columnStarts); + // Put in columns using the format string from the header - for (int i = 0; i < nColumns; i++) { - String format = tableData[5 + i]; - if (primaryKeyDisplay) - addColumn(columnNames[i + 1], true, format); - else - addColumn(columnNames[i], true, format); + for ( int i = 0; i < nColumns; i++ ) { + final String format = tableData[TableDataHeaderFields.FORMAT_START.index() + i]; + addColumn(columnNames[i], format); } - - for (int i = 0; i < nRows; i++) { - // read line - String dataLine; - try { - dataLine = reader.readLine(); - } catch (IOException e) { - throw new ReviewedStingException(COULD_NOT_READ_DATA_LINE + e.getMessage()); - } - List lineSplits = Arrays.asList(TextFormattingUtils.splitFixedWidth(dataLine, columnStarts)); - - for (int columnIndex = 0; columnIndex < nColumns; columnIndex++) { - - //Input all the remaining values - GATKReportDataType type = getColumns().getByIndex(columnIndex).getDataType(); - - if (primaryKeyDisplay) { - String columnName = columnNames[columnIndex + 1]; - String primaryKey = lineSplits.get(0); - set(primaryKey, columnName, type.Parse(lineSplits.get(columnIndex + 1))); - } else { - String columnName = columnNames[columnIndex]; - set(counter, columnName, type.Parse(lineSplits.get(columnIndex))); + + // fill in the table + try { + for ( int i = 0; i < nRows; i++ ) { + // read a data line + final String dataLine = reader.readLine(); + final List lineSplits = Arrays.asList(TextFormattingUtils.splitFixedWidth(dataLine, columnStarts)); + + underlyingData.add(new Object[nColumns]); + for ( int columnIndex = 0; columnIndex < nColumns; columnIndex++ ) { + + final GATKReportDataType type = columnInfo.get(columnIndex).getDataType(); + final String columnName = columnNames[columnIndex]; + set(i, columnName, type.Parse(lineSplits.get(columnIndex))); + } - } - counter++; + } catch (IOException e) { + throw new ReviewedStingException(COULD_NOT_READ_DATA_LINE + e.getMessage()); } - - + try { reader.readLine(); } catch (IOException e) { throw new ReviewedStingException(COULD_NOT_READ_EMPTY_LINE + e.getMessage()); - } + } break; - - default: + + default: throw new ReviewedStingException(OLD_GATK_TABLE_VERSION); } } + /** + * Construct a new GATK report table with the specified name and description + * + * @param tableName the name of the table + * @param tableDescription the description of the table + * @param numColumns the number of columns in this table + */ + public GATKReportTable(final String tableName, final String tableDescription, final int numColumns) { + this(tableName, tableDescription, numColumns, true); + } + + /** + * Construct a new GATK report table with the specified name and description and whether to sort rows by the row ID. + * + * @param tableName the name of the table + * @param tableDescription the description of the table + * @param numColumns the number of columns in this table + * @param sortByRowID whether to sort rows by the row ID (instead of the order in which they were added) + */ + public GATKReportTable(final String tableName, final String tableDescription, final int numColumns, final boolean sortByRowID) { + if ( !isValidName(tableName) ) { + throw new ReviewedStingException("Attempted to set a GATKReportTable name of '" + tableName + "'. GATKReportTable names must be purely alphanumeric - no spaces or special characters are allowed."); + } + + if ( !isValidDescription(tableDescription) ) { + throw new ReviewedStingException("Attempted to set a GATKReportTable description of '" + tableDescription + "'. GATKReportTable descriptions must not contain newlines."); + } + + this.tableName = tableName; + this.tableDescription = tableDescription; + this.sortByRowID = sortByRowID; + + underlyingData = new ArrayList(INITITAL_ARRAY_SIZE); + columnInfo = new ArrayList(numColumns); + columnNameToIndex = new HashMap(numColumns); + rowIdToIndex = new HashMap(); + } /** * Verifies that a table or column name has only alphanumeric characters - no spaces or special characters allowed @@ -189,546 +234,272 @@ public class GATKReportTable { } /** - * Construct a new GATK report table with the specified name and description + * Add a mapping from ID to the index of a new row added to the table. * - * @param tableName the name of the table - * @param tableDescription the description of the table + * @param ID the unique ID */ - public GATKReportTable(String tableName, String tableDescription) { - this(tableName, tableDescription, true); + public void addRowID(final String ID) { + addRowID(ID, false); } /** - * Construct a new GATK report table with the specified name and description and whether to sort rows by the primary - * key + * Add a mapping from ID to the index of a new row added to the table. * - * @param tableName the name of the table - * @param tableDescription the description of the table - * @param sortByPrimaryKey whether to sort rows by the primary key (instead of order added) + * @param ID the unique ID + * @param populateFirstColumn should we automatically populate the first column with the row's ID? */ - public GATKReportTable(String tableName, String tableDescription, boolean sortByPrimaryKey) { - if (!isValidName(tableName)) { - throw new ReviewedStingException("Attempted to set a GATKReportTable name of '" + tableName + "'. GATKReportTable names must be purely alphanumeric - no spaces or special characters are allowed."); - } - - if (!isValidDescription(tableDescription)) { - throw new ReviewedStingException("Attempted to set a GATKReportTable description of '" + tableDescription + "'. GATKReportTable descriptions must not contain newlines."); - } - - this.tableName = tableName; - this.tableDescription = tableDescription; - this.sortByPrimaryKey = sortByPrimaryKey; - - columns = new GATKReportColumns(); + public void addRowID(final String ID, final boolean populateFirstColumn) { + addRowIDMapping(ID, underlyingData.size(), populateFirstColumn); } /** - * Add a primary key column. This becomes the unique identifier for every column in the table. + * Add a mapping from ID to row index. * - * @param primaryKeyName the name of the primary key column + * @param ID the unique ID + * @param index the index associated with the ID */ - public void addPrimaryKey(String primaryKeyName) { - addPrimaryKey(primaryKeyName, true); + public void addRowIDMapping(final String ID, final int index) { + addRowIDMapping(ID, index, false); } /** - * Add an optionally visible primary key column. This becomes the unique identifier for every column in the table, - * and will always be printed as the first column. + * Add a mapping from ID to row index. * - * @param primaryKeyName the name of the primary key column - * @param display should this primary key be displayed? + * @param ID the unique ID + * @param index the index associated with the ID + * @param populateFirstColumn should we automatically populate the first column with the row's ID? */ - public void addPrimaryKey(String primaryKeyName, boolean display) { - if (!isValidName(primaryKeyName)) { - throw new ReviewedStingException("Attempted to set a GATKReportTable primary key name of '" + primaryKeyName + "'. GATKReportTable primary key names must be purely alphanumeric - no spaces or special characters are allowed."); - } + public void addRowIDMapping(final Object ID, final int index, final boolean populateFirstColumn) { + expandTo(index, false); + rowIdToIndex.put(ID, index); - this.primaryKeyName = primaryKeyName; - - primaryKeyColumn = sortByPrimaryKey ? new TreeSet() : new LinkedList(); - primaryKeyDisplay = display; + if ( populateFirstColumn ) + set(index, 0, ID); } /** - * Returns the first primary key matching the column values. - * Ex: "CountVariants", "dbsnp", "eval", "called", "all", "novel", "all" - * @param columnValues column values. - * @return The first primary key matching the column values or throws an exception. + * Remove a mapping from ID to row index. + * + * @param ID the row ID */ - public Object getPrimaryKeyByData(Object... columnValues) { - Object key = findPrimaryKeyByData(columnValues); - if (key == null) - throw new ReviewedStingException("Attempted to get non-existent GATKReportTable key for values: " + Arrays.asList(columnValues)); - return key; + public void removeRowIDMapping(final Object ID) { + rowIdToIndex.remove(ID); } /** - * Returns the first primary key matching the column values. - * Ex: "CountVariants", "dbsnp", "eval", "called", "all", "novel", "all" + * Add a column to the report * - * @param columnValues column values. - * @return The first primary key matching the column values or null if the key does not exist. + * @param columnName the name of the column */ - public Object findPrimaryKeyByData(Object... columnValues) { - if (columnValues == null) - throw new NullPointerException("Column values is null"); - if (columnValues.length == 0) - throw new IllegalArgumentException("Column values is empty"); - int columnCount = columns.size(); - for (Object primaryKey : primaryKeyColumn) { - boolean matching = true; - // i --> index into columnValues parameter - // j --> index into columns collection - for (int i = 0, j = 0; matching && i < columnValues.length && j < columnCount; j++) { - if (!columns.getByIndex(j).isDisplayable()) - continue; - matching = ObjectUtils.equals(columnValues[i], get(primaryKey, i)); - i++; + public void addColumn(String columnName) { + addColumn(columnName, ""); + } + + /** + * Add a column to the report and the format string used to display the data. + * + * @param columnName the name of the column + * @param format the format string used to display data + */ + public void addColumn(String columnName, String format) { + columnNameToIndex.put(columnName, columnInfo.size()); + columnInfo.add(new GATKReportColumn(columnName, format)); + } + + /** + * Check if the requested cell is valid and expand the table if necessary + * + * @param rowIndex the row index + * @param colIndex the column index + */ + private void verifyEntry(final int rowIndex, final int colIndex) { + if ( rowIndex < 0 || colIndex < 0 || colIndex >= getNumColumns() ) + throw new ReviewedStingException("attempted to access a cell that does not exist in table '" + tableName + "'"); + } + + /** + * expand the underlying table if needed to include the given row index + * + * @param rowIndex the row index + * @param updateRowIdMap should we update the row ID map? + */ + private void expandTo(final int rowIndex, final boolean updateRowIdMap) { + int currentSize = underlyingData.size(); + if ( rowIndex >= currentSize ) { + final int numNewRows = rowIndex - currentSize + 1; + for ( int i = 0; i < numNewRows; i++ ) { + if ( updateRowIdMap ) + rowIdToIndex.put(currentSize, currentSize); + underlyingData.add(new Object[getNumColumns()]); + currentSize++; } - if (matching) - return primaryKey; - } - return null; - } - - /** - * Add a column to the report and specify the default value that should be supplied if a given position in the table - * is never explicitly set. - * - * @param columnName the name of the column - * @param defaultValue the default value for the column - */ - public void addColumn(String columnName, Object defaultValue) { - addColumn(columnName, defaultValue, true); - } - - /** - * Add a column to the report, specify the default column value, and specify whether the column should be displayed - * in the final output (useful when intermediate columns are necessary for later calculations, but are not required - * to be in the output file. - * - * @param columnName the name of the column - * @param defaultValue the default value of the column - * @param display if true - the column will be displayed; if false - the column will be hidden - */ - public void addColumn(String columnName, Object defaultValue, boolean display) { - addColumn(columnName, defaultValue, display, ""); - } - - /** - * Add a column to the report, specify the default column value, and specify whether the column should be displayed - * in the final output (useful when intermediate columns are necessary for later calculations, but are not required - * to be in the output file. - * - * @param columnName the name of the column - * @param defaultValue the default value of the column - * @param format the format string used to display data - */ - public void addColumn(String columnName, Object defaultValue, String format) { - addColumn(columnName, defaultValue, true, format); - } - - /** - * Add a column to the report, specify whether the column should be displayed in the final output (useful when - * intermediate columns are necessary for later calculations, but are not required to be in the output file), and the - * format string used to display the data. - * - * @param columnName the name of the column - * @param display if true - the column will be displayed; if false - the column will be hidden - * @param format the format string used to display data - */ - public void addColumn(String columnName, boolean display, String format) { - addColumn(columnName, null, display, format); - } - - /** - * Add a column to the report, specify the default column value, whether the column should be displayed in the final - * output (useful when intermediate columns are necessary for later calculations, but are not required to be in the - * output file), and the format string used to display the data. - * - * @param columnName the name of the column - * @param defaultValue if true - the column will be displayed; if false - the column will be hidden - * @param display display the column - * @param format the format string used to display data - */ - public void addColumn(String columnName, Object defaultValue, boolean display, String format) { - if (!isValidName(columnName)) { - throw new ReviewedStingException("Attempted to set a GATKReportTable column name of '" + columnName + "'. GATKReportTable column names must be purely alphanumeric - no spaces or special characters are allowed."); - } - columns.put(columnName, new GATKReportColumn(columnName, defaultValue, display, format)); - } - - /** - * Check if the requested element exists, and if not, create it. - * - * @param primaryKey the primary key value - * @param columnName the name of the column - */ - private void verifyEntry(Object primaryKey, String columnName) { - if (!columns.containsKey(columnName)) { - throw new ReviewedStingException("Attempted to access column '" + columnName + "' that does not exist in table '" + tableName + "'."); - } - - primaryKeyColumn.add(primaryKey); - - if (!columns.get(columnName).containsKey(primaryKey)) { - columns.get(columnName).initialize(primaryKey); } } - public boolean containsKey(Object primaryKey) { - return primaryKeyColumn.contains(primaryKey); - } - - public Collection getPrimaryKeys() { - return Collections.unmodifiableCollection(primaryKeyColumn); + /** + * Set the value for a given position in the table. + * If the row ID doesn't exist, it will create a new row in the table with the given ID. + * + * @param rowID the row ID + * @param columnName the name of the column + * @param value the value to set + */ + public void set(final Object rowID, final String columnName, final Object value) { + if ( !rowIdToIndex.containsKey(rowID) ) { + rowIdToIndex.put(rowID, underlyingData.size()); + expandTo(underlyingData.size(), false); + } + set(rowIdToIndex.get(rowID), columnNameToIndex.get(columnName), value); } /** - * Set the value for a given position in the table + * Set the value for a given position in the table. + * If the row index doesn't exist, it will create new rows in the table accordingly. * - * @param primaryKey the primary key value - * @param columnName the name of the column - * @param value the value to set + * @param rowIndex the row index + * @param colIndex the column index + * @param value the value to set */ - public void set(Object primaryKey, String columnName, Object value) { - verifyEntry(primaryKey, columnName); - GATKReportColumn column = columns.get(columnName); - //todo -- Check if value is of same type as column + public void set(final int rowIndex, final int colIndex, Object value) { + expandTo(rowIndex, true); + verifyEntry(rowIndex, colIndex); + GATKReportColumn column = columnInfo.get(colIndex); // We do not accept internal null values if (value == null) value = "null"; + else + value = fixType(value, column); - // This code below is bs. Why am do I have to conform to bad code + if ( column.getDataType().equals(GATKReportDataType.fromObject(value)) || column.getDataType().equals(GATKReportDataType.Unknown) ) { + underlyingData.get(rowIndex)[colIndex] = value; + column.updateFormatting(value); + } else { + throw new ReviewedStingException(String.format("Tried to add an object of type: %s to a column of type: %s", GATKReportDataType.fromObject(value).name(), column.getDataType().name())); + } + } + + /** + * Returns true if the table contains a row mapping with the given ID + * + * @param rowID the row ID + */ + public boolean containsRowID(final Object rowID) { + return rowIdToIndex.containsKey(rowID); + } + + /** + * Returns the row mapping IDs + * + */ + public Collection getRowIDs() { + return rowIdToIndex.keySet(); + } + + /** + * Increment the value for a given position in the table. + * Throws an exception if the value in the cell is not an integer. + * + * @param rowID the row ID + * @param columnName the name of the column + */ + public void increment(final Object rowID, final String columnName) { + int prevValue; + if ( !rowIdToIndex.containsKey(rowID) ) { + rowIdToIndex.put(rowID, underlyingData.size()); + underlyingData.add(new Object[getNumColumns()]); + prevValue = 0; + } else { + Object obj = get(rowID, columnName); + if ( !(obj instanceof Integer) ) + throw new ReviewedStingException("Attempting to increment a value in a cell that is not an integer"); + prevValue = (Integer)obj; + } + + set(rowIdToIndex.get(rowID), columnNameToIndex.get(columnName), prevValue + 1); + } + + /** + * Returns the index of the first row matching the column values. + * Ex: "CountVariants", "dbsnp", "eval", "called", "all", "novel", "all" + * + * @param columnValues column values. + * @return The index of the first row matching the column values or -1 if no such row exists. + */ + public int findRowByData(final Object... columnValues) { + if ( columnValues == null || columnValues.length == 0 || columnValues.length > getNumColumns() ) + return -1; + + for ( int rowIndex = 0; rowIndex < underlyingData.size(); rowIndex++ ) { + + final Object[] row = underlyingData.get(rowIndex); + + boolean matches = true; + for ( int colIndex = 0; colIndex < columnValues.length; colIndex++ ) { + if ( !columnValues[colIndex].equals(row[colIndex]) ) { + matches = false; + break; + } + } + + if ( matches ) + return rowIndex; + } + + return -1; + } + + private Object fixType(final Object value, final GATKReportColumn column) { // Below is some code to convert a string into its appropriate type. - - // I second Roger's rant! - // If we got a string but the column is not a String type + // todo -- Types have to be more flexible. For example, %d should accept Integers, Shorts and Bytes. + Object newValue = null; - if (value instanceof String && !column.getDataType().equals(GATKReportDataType.String)) { + if ( value instanceof String && !column.getDataType().equals(GATKReportDataType.String) ) { // Integer case - if (column.getDataType().equals(GATKReportDataType.Integer)) { + if ( column.getDataType().equals(GATKReportDataType.Integer) ) { try { newValue = Long.parseLong((String) value); } catch (Exception e) { /** do nothing */ } } - if (column.getDataType().equals(GATKReportDataType.Decimal)) { + if ( column.getDataType().equals(GATKReportDataType.Decimal) ) { try { newValue = Double.parseDouble((String) value); } catch (Exception e) { /** do nothing */ } } - if (column.getDataType().equals(GATKReportDataType.Character) && ((String) value).length() == 1) { + if ( column.getDataType().equals(GATKReportDataType.Character) && ((String) value).length() == 1 ) { newValue = ((String) value).charAt(0); } } - if (newValue != null) - value = newValue; - - // todo -- Types have to be more flexible. For example, %d should accept Integers, Shorts and Bytes. - if (column.getDataType().equals(GATKReportDataType.fromObject(value)) || column.getDataType().equals(GATKReportDataType.Unknown) ) - columns.get(columnName).put(primaryKey, value); - else - throw new ReviewedStingException(String.format("Tried to add an object of type: %s to a column of type: %s", GATKReportDataType.fromObject(value).name(), column.getDataType().name())); + return (newValue != null) ? newValue : value; } /** * Get a value from the given position in the table * - * @param primaryKey the primary key value - * @param columnName the name of the column + * @param rowID the row ID + * @param columnName the name of the column * @return the value stored at the specified position in the table */ - public Object get(Object primaryKey, String columnName) { - verifyEntry(primaryKey, columnName); - - return columns.get(columnName).get(primaryKey); + public Object get(final Object rowID, final String columnName) { + return get(rowIdToIndex.get(rowID), columnNameToIndex.get(columnName)); } /** * Get a value from the given position in the table * - * @param primaryKey the primary key value + * @param rowIndex the index of the row * @param columnIndex the index of the column * @return the value stored at the specified position in the table */ - private Object get(Object primaryKey, int columnIndex) { - return columns.getByIndex(columnIndex).get(primaryKey); - } - - /** - * Increment an element in the table. This implementation is awful - a functor would probably be better. - * - * @param primaryKey the primary key value - * @param columnName the name of the column - */ - public void increment(Object primaryKey, String columnName) { - Object oldValue = get(primaryKey, columnName); - Object newValue; - - if (oldValue instanceof Byte) { - newValue = ((Byte) oldValue) + 1; - } else if (oldValue instanceof Short) { - newValue = ((Short) oldValue) + 1; - } else if (oldValue instanceof Integer) { - newValue = ((Integer) oldValue) + 1; - } else if (oldValue instanceof Long) { - newValue = ((Long) oldValue) + 1L; - } else if (oldValue instanceof Float) { - newValue = ((Float) oldValue) + 1.0f; - } else if (oldValue instanceof Double) { - newValue = ((Double) oldValue) + 1.0d; - } else { - throw new UnsupportedOperationException("Can't increment value: object " + oldValue + " is not an instance of one of the numerical Java primitive wrapper classes (Byte, Short, Integer, Long, Float, Double)"); - } - - set(primaryKey, columnName, newValue); - } - - /** - * Decrement an element in the table. This implementation is awful - a functor would probably be better. - * - * @param primaryKey the primary key value - * @param columnName the name of the column - */ - public void decrement(Object primaryKey, String columnName) { - Object oldValue = get(primaryKey, columnName); - Object newValue; - - if (oldValue instanceof Byte) { - newValue = ((Byte) oldValue) - 1; - } else if (oldValue instanceof Short) { - newValue = ((Short) oldValue) - 1; - } else if (oldValue instanceof Integer) { - newValue = ((Integer) oldValue) - 1; - } else if (oldValue instanceof Long) { - newValue = ((Long) oldValue) - 1L; - } else if (oldValue instanceof Float) { - newValue = ((Float) oldValue) - 1.0f; - } else if (oldValue instanceof Double) { - newValue = ((Double) oldValue) - 1.0d; - } else { - throw new UnsupportedOperationException("Can't decrement value: object " + oldValue + " is not an instance of one of the numerical Java primitive wrapper classes (Byte, Short, Integer, Long, Float, Double)"); - } - - set(primaryKey, columnName, newValue); - } - - /** - * Add the specified value to an element in the table - * - * @param primaryKey the primary key value - * @param columnName the name of the column - * @param valueToAdd the value to add - */ - public void add(Object primaryKey, String columnName, Object valueToAdd) { - Object oldValue = get(primaryKey, columnName); - Object newValue; - - if (oldValue instanceof Byte) { - newValue = ((Byte) oldValue) + ((Byte) valueToAdd); - } else if (oldValue instanceof Short) { - newValue = ((Short) oldValue) + ((Short) valueToAdd); - } else if (oldValue instanceof Integer) { - newValue = ((Integer) oldValue) + ((Integer) valueToAdd); - } else if (oldValue instanceof Long) { - newValue = ((Long) oldValue) + ((Long) valueToAdd); - } else if (oldValue instanceof Float) { - newValue = ((Float) oldValue) + ((Float) valueToAdd); - } else if (oldValue instanceof Double) { - newValue = ((Double) oldValue) + ((Double) valueToAdd); - } else { - throw new UnsupportedOperationException("Can't add values: object " + oldValue + " is not an instance of one of the numerical Java primitive wrapper classes (Byte, Short, Integer, Long, Float, Double)"); - } - - set(primaryKey, columnName, newValue); - } - - /** - * Subtract the specified value from an element in the table - * - * @param primaryKey the primary key value - * @param columnName the name of the column - * @param valueToSubtract the value to subtract - */ - public void subtract(Object primaryKey, String columnName, Object valueToSubtract) { - Object oldValue = get(primaryKey, columnName); - Object newValue; - - if (oldValue instanceof Byte) { - newValue = ((Byte) oldValue) - ((Byte) valueToSubtract); - } else if (oldValue instanceof Short) { - newValue = ((Short) oldValue) - ((Short) valueToSubtract); - } else if (oldValue instanceof Integer) { - newValue = ((Integer) oldValue) - ((Integer) valueToSubtract); - } else if (oldValue instanceof Long) { - newValue = ((Long) oldValue) - ((Long) valueToSubtract); - } else if (oldValue instanceof Float) { - newValue = ((Float) oldValue) - ((Float) valueToSubtract); - } else if (oldValue instanceof Double) { - newValue = ((Double) oldValue) - ((Double) valueToSubtract); - } else { - throw new UnsupportedOperationException("Can't subtract values: object " + oldValue + " is not an instance of one of the numerical Java primitive wrapper classes (Byte, Short, Integer, Long, Float, Double)"); - } - - set(primaryKey, columnName, newValue); - } - - /** - * Multiply the specified value to an element in the table - * - * @param primaryKey the primary key value - * @param columnName the name of the column - * @param valueToMultiply the value to multiply by - */ - public void multiply(Object primaryKey, String columnName, Object valueToMultiply) { - Object oldValue = get(primaryKey, columnName); - Object newValue; - - if (oldValue instanceof Byte) { - newValue = ((Byte) oldValue) * ((Byte) valueToMultiply); - } else if (oldValue instanceof Short) { - newValue = ((Short) oldValue) * ((Short) valueToMultiply); - } else if (oldValue instanceof Integer) { - newValue = ((Integer) oldValue) * ((Integer) valueToMultiply); - } else if (oldValue instanceof Long) { - newValue = ((Long) oldValue) * ((Long) valueToMultiply); - } else if (oldValue instanceof Float) { - newValue = ((Float) oldValue) * ((Float) valueToMultiply); - } else if (oldValue instanceof Double) { - newValue = ((Double) oldValue) * ((Double) valueToMultiply); - } else { - throw new UnsupportedOperationException("Can't multiply values: object " + oldValue + " is not an instance of one of the numerical Java primitive wrapper classes (Byte, Short, Integer, Long, Float, Double)"); - } - - set(primaryKey, columnName, newValue); - } - - /** - * Divide the specified value from an element in the table - * - * @param primaryKey the primary key value - * @param columnName the name of the column - * @param valueToDivide the value to divide by - */ - public void divide(Object primaryKey, String columnName, Object valueToDivide) { - Object oldValue = get(primaryKey, columnName); - Object newValue; - - if (oldValue instanceof Byte) { - newValue = ((Byte) oldValue) * ((Byte) valueToDivide); - } else if (oldValue instanceof Short) { - newValue = ((Short) oldValue) * ((Short) valueToDivide); - } else if (oldValue instanceof Integer) { - newValue = ((Integer) oldValue) * ((Integer) valueToDivide); - } else if (oldValue instanceof Long) { - newValue = ((Long) oldValue) * ((Long) valueToDivide); - } else if (oldValue instanceof Float) { - newValue = ((Float) oldValue) * ((Float) valueToDivide); - } else if (oldValue instanceof Double) { - newValue = ((Double) oldValue) * ((Double) valueToDivide); - } else { - throw new UnsupportedOperationException("Can't divide values: object " + oldValue + " is not an instance of one of the numerical Java primitive wrapper classes (Byte, Short, Integer, Long, Float, Double)"); - } - - set(primaryKey, columnName, newValue); - } - - /** - * Add two columns to each other and set the results to a third column - * - * @param columnToSet the column that should hold the results - * @param augend the column that shall be the augend - * @param addend the column that shall be the addend - */ - public void addColumns(String columnToSet, String augend, String addend) { - for (Object primaryKey : primaryKeyColumn) { - Number firstColumnValue = (Number) get(primaryKey, augend); - Number secondColumnValue = (Number) get(primaryKey, addend); - - Double value = firstColumnValue.doubleValue() + secondColumnValue.doubleValue(); - - set(primaryKey, columnToSet, value); - } - } - - /** - * Subtract one column from another and set the results to a third column - * - * @param columnToSet the column that should hold the results - * @param minuend the column that shall be the minuend (the a in a - b) - * @param subtrahend the column that shall be the subtrahend (the b in a - b) - */ - public void subtractColumns(String columnToSet, String minuend, String subtrahend) { - for (Object primaryKey : primaryKeyColumn) { - Number firstColumnValue = (Number) get(primaryKey, minuend); - Number secondColumnValue = (Number) get(primaryKey, subtrahend); - - Double value = firstColumnValue.doubleValue() - secondColumnValue.doubleValue(); - - set(primaryKey, columnToSet, value); - } - } - - /** - * Multiply two columns by each other and set the results to a third column - * - * @param columnToSet the column that should hold the results - * @param multiplier the column that shall be the multiplier - * @param multiplicand the column that shall be the multiplicand - */ - public void multiplyColumns(String columnToSet, String multiplier, String multiplicand) { - for (Object primaryKey : primaryKeyColumn) { - Number firstColumnValue = (Number) get(primaryKey, multiplier); - Number secondColumnValue = (Number) get(primaryKey, multiplicand); - - Double value = firstColumnValue.doubleValue() * secondColumnValue.doubleValue(); - - set(primaryKey, columnToSet, value); - } - } - - /** - * Divide two columns by each other and set the results to a third column - * - * @param columnToSet the column that should hold the results - * @param numeratorColumn the column that shall be the numerator - * @param denominatorColumn the column that shall be the denominator - */ - public void divideColumns(String columnToSet, String numeratorColumn, String denominatorColumn) { - for (Object primaryKey : primaryKeyColumn) { - Number firstColumnValue = (Number) get(primaryKey, numeratorColumn); - Number secondColumnValue = (Number) get(primaryKey, denominatorColumn); - - Double value = firstColumnValue.doubleValue() / secondColumnValue.doubleValue(); - - set(primaryKey, columnToSet, value); - } - } - - /** - * Return the print width of the primary key column - * - * @return the width of the primary key column - */ - int getPrimaryKeyColumnWidth() { - int maxWidth = getPrimaryKeyName().length(); - - for (Object primaryKey : primaryKeyColumn) { - int width = primaryKey.toString().length(); - - if (width > maxWidth) { - maxWidth = width; - } - } - - return maxWidth; + public Object get(int rowIndex, int columnIndex) { + verifyEntry(rowIndex, columnIndex); + return underlyingData.get(rowIndex)[columnIndex]; } /** @@ -736,82 +507,95 @@ public class GATKReportTable { * * @param out the PrintStream to which the table should be written */ - void write(PrintStream out) { + void write(final PrintStream out) { - /* - * Table header: - * #:GATKTable:nColumns:nRows:(DataType for each column):; - * #:GATKTable:TableName:Description :; - * key colA colB - * row1 xxxx xxxxx - */ + /* + * Table header: + * #:GATKTable:nColumns:nRows:(DataType for each column):; + * #:GATKTable:TableName:Description :; + * key colA colB + * row1 xxxx xxxxx + */ - // Get the column widths for everything - String primaryKeyFormat = "%-" + getPrimaryKeyColumnWidth() + "s"; + // write the table definition + out.printf(GATKTABLE_HEADER_PREFIX + ":%d:%d", getNumColumns(), getNumRows()); - // Emit the table definition - String formatHeader = String.format(GATKTABLE_HEADER_PREFIX + ":%b:%d:%d", primaryKeyDisplay, getColumns().size(), getNumRows()); - // Add all the formats for all the columns - for (GATKReportColumn column : getColumns()) { - if (column.isDisplayable()) - formatHeader += (SEPARATOR + column.getFormat()); + // write the formats for all the columns + for ( final GATKReportColumn column : columnInfo ) + out.print(SEPARATOR + column.getFormat()); + out.println(ENDLINE); + + // write the table name & description + out.printf(GATKTABLE_HEADER_PREFIX + ":%s:%s\n", tableName, tableDescription); + + // write the column names + boolean needsPadding = false; + for ( final GATKReportColumn column : columnInfo ) { + if ( needsPadding ) + out.printf(" "); + needsPadding = true; + + out.printf(column.getColumnFormat().getNameFormat(), column.getColumnName()); } - out.println(formatHeader + ENDLINE); - out.printf(GATKTABLE_HEADER_PREFIX + ":%s:%s\n", tableName, tableDescription); + out.println(); - //out.printf("#:GATKTable:%s:%s", Algorithm); + // write the table body + if ( sortByRowID ) { + // make sure that there are exactly the correct number of ID mappings + if ( rowIdToIndex.size() != underlyingData.size() ) + throw new ReviewedStingException("There isn't a 1-to-1 mapping from row ID to index; this can happen when rows are not created consistently"); + final TreeMap sortedMap; + try { + sortedMap = new TreeMap(rowIdToIndex); + } catch (ClassCastException e) { + throw new ReviewedStingException("Unable to sort the rows based on the row IDs because the ID Objects are of different types"); + } + for ( final Map.Entry rowKey : sortedMap.entrySet() ) + writeRow(out, underlyingData.get(rowKey.getValue())); + } else { + for ( final Object[] row : underlyingData ) + writeRow(out, row); + } - // Emit the table header, taking into account the padding requirement if the primary key is a hidden column + out.println(); + } + + private void writeRow(final PrintStream out, final Object[] row) { boolean needsPadding = false; - if (primaryKeyDisplay) { - out.printf(primaryKeyFormat, getPrimaryKeyName()); + for ( int i = 0; i < row.length; i++ ) { + if ( needsPadding ) + out.printf(" "); needsPadding = true; + + final Object obj = row[i]; + final String value; + + final GATKReportColumn info = columnInfo.get(i); + + if ( obj == null ) + value = "null"; + else if ( info.getDataType().equals(GATKReportDataType.Unknown) && (obj instanceof Double || obj instanceof Float) ) + value = String.format("%.8f", obj); + else + value = String.format(info.getFormat(), obj); + + out.printf(info.getColumnFormat().getValueFormat(), value); } - for (String columnName : columns.keySet()) { - if (columns.get(columnName).isDisplayable()) { - if (needsPadding) { - out.printf(" "); - } - out.printf(columns.get(columnName).getColumnFormat().getNameFormat(), columnName); - - needsPadding = true; - } - } - - out.printf("%n"); - - // Emit the table body - for (final Object primaryKey : primaryKeyColumn) { - needsPadding = false; - if (primaryKeyDisplay) { - out.printf(primaryKeyFormat, primaryKey); - needsPadding = true; - } - - for (final Map.Entry entry : columns.entrySet()) { - final GATKReportColumn column = entry.getValue(); - if (column.isDisplayable()) { - if (needsPadding) { - out.print(" "); - } - - final String value = column.getStringValue(primaryKey); - out.printf(column.getColumnFormat().getValueFormat(), value); - - needsPadding = true; - } - } - - out.println(); - } - - out.println(); + out.println(); } public int getNumRows() { - return primaryKeyColumn.size(); + return underlyingData.size(); + } + + public int getNumColumns() { + return columnInfo.size(); + } + + public List getColumnInfo() { + return columnInfo; } public String getTableName() { @@ -822,63 +606,22 @@ public class GATKReportTable { return tableDescription; } - public GATKReportColumns getColumns() { - return columns; - } - /** - * Combines two compatible GATK report tables. This is the general function which will call the different algorithms - * necessary to gather the tables. Every column's combine algorithm is read and treated accordingly. + * Concatenates the rows from the table to this one * - * @param input Another GATK table + * @param table another GATK table */ - void combineWith(GATKReportTable input) { - /* - * This function is different from addRowsFrom because we will add the ability to sum,average, etc rows - * TODO: Add other combining algorithms - */ + public void concat(final GATKReportTable table) { + if ( !isSameFormat(table) ) + throw new ReviewedStingException("Error trying to concatenate tables with different formats"); - // Make sure the columns match AND the Primary Key - if (input.getColumns().keySet().equals(this.getColumns().keySet()) && - input.getPrimaryKeyName().equals(this.getPrimaryKeyName())) { - this.addRowsFrom(input); - } else - throw new ReviewedStingException("Failed to combine GATKReportTable, columns don't match!"); - } + // add the data + underlyingData.addAll(table.underlyingData); - /** - * A gather algorithm that simply takes the rows from the argument, and adds them to the current table. This is the - * default gather algorithm. - * - * @param input Another GATK table to add rows from. - */ - private void addRowsFrom(GATKReportTable input) { - // add column by column - - // For every column - for (String columnKey : input.getColumns().keySet()) { - GATKReportColumn current = this.getColumns().get(columnKey); - GATKReportColumn toAdd = input.getColumns().get(columnKey); - // We want to take the current column and add all the values from input - - // The column is a map of values - for (Object rowKey : toAdd.keySet()) { - // We add every value from toAdd to the current - if (!current.containsKey(rowKey)) { - this.set(rowKey, columnKey, toAdd.get(rowKey)); - //System.out.printf("Putting row with PK: %s \n", rowKey); - } else { - this.set(rowKey, columnKey, toAdd.get(rowKey)); - - System.out.printf("OVERWRITING Row with PK: %s \n", rowKey); - } - } - } - - } - - public String getPrimaryKeyName() { - return primaryKeyName; + // update the row index map + final int currentNumRows = getNumRows(); + for ( Map.Entry entry : table.rowIdToIndex.entrySet() ) + rowIdToIndex.put(entry.getKey(), entry.getValue() + currentNumRows); } /** @@ -889,13 +632,19 @@ public class GATKReportTable { * @param table another GATK table * @return true if the the tables are gatherable */ - public boolean isSameFormat(GATKReportTable table) { - //Should we add the sortByPrimaryKey as a check? + public boolean isSameFormat(final GATKReportTable table) { + if ( !tableName.equals(table.tableName) || + !tableDescription.equals(table.tableDescription) || + columnInfo.size() != table.columnInfo.size() ) + return false; - return columns.isSameFormat(table.columns) && - (primaryKeyDisplay == table.primaryKeyDisplay && primaryKeyName.equals(table.primaryKeyName) && - tableName.equals(table.tableName) && - tableDescription.equals(table.tableDescription)); + for ( int i = 0; i < columnInfo.size(); i++ ) { + if ( !columnInfo.get(i).getFormat().equals(table.columnInfo.get(i).getFormat()) || + !columnInfo.get(i).getColumnName().equals(table.columnInfo.get(i).getColumnName()) ) + return false; + } + + return true; } /** @@ -904,11 +653,41 @@ public class GATKReportTable { * @param table another GATK report * @return true if all field in the reports, tables, and columns are equal. */ - public boolean equals(GATKReportTable table) { - return isSameFormat(table) && - (columns.equals(table.columns) && - primaryKeyColumn.equals(table.primaryKeyColumn) && - sortByPrimaryKey == table.sortByPrimaryKey); + public boolean equals(final GATKReportTable table) { + if ( !isSameFormat(table) || + underlyingData.size() != table.underlyingData.size() ) + return false; + final List myOrderedRows = getOrderedRows(); + final List otherOrderedRows = table.getOrderedRows(); + + for ( int i = 0; i < underlyingData.size(); i++ ) { + final Object[] myData = myOrderedRows.get(i); + final Object[] otherData = otherOrderedRows.get(i); + for ( int j = 0; j < myData.length; j++ ) { + if ( !myData[j].toString().equals(otherData[j].toString()) ) // need to deal with different typing (e.g. Long vs. Integer) + return false; + } + } + + return true; + } + + private List getOrderedRows() { + if ( !sortByRowID ) + return underlyingData; + + final TreeMap sortedMap; + try { + sortedMap = new TreeMap(rowIdToIndex); + } catch (ClassCastException e) { + return underlyingData; + } + + final List orderedData = new ArrayList(underlyingData.size()); + for ( final int rowKey : sortedMap.values() ) + orderedData.add(underlyingData.get(rowKey)); + + return orderedData; } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportVersion.java b/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportVersion.java index 99381cc21..b5a5e0443 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportVersion.java +++ b/public/java/src/org/broadinstitute/sting/gatk/report/GATKReportVersion.java @@ -45,10 +45,17 @@ public enum GATKReportVersion { /* * Differences between v0.x * - Added table and report headers - * - Headers changed format, include the numbe rof tables, rows, and metadata for gathering + * - Headers changed format, include the number of tables, rows, and metadata for gathering * - IS GATHERABLE */ - V1_0("v1.0"); + V1_0("v1.0"), + + /* + * Differences between v1.0 + * - column numbers in header reflect the actual count of columns + * - primary keys are never displayed + */ + V1_1("v1.1"); private final String versionString; @@ -81,6 +88,9 @@ public enum GATKReportVersion { if (header.startsWith("#:GATKReport.v1.0")) return GATKReportVersion.V1_0; + if (header.startsWith("#:GATKReport.v1.1")) + return GATKReportVersion.V1_1; + throw new ReviewedStingException("Unknown GATK report version in header: " + header); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/traversals/TraverseActiveRegions.java b/public/java/src/org/broadinstitute/sting/gatk/traversals/TraverseActiveRegions.java index 76c1ce8c5..1b9c12fb0 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/traversals/TraverseActiveRegions.java +++ b/public/java/src/org/broadinstitute/sting/gatk/traversals/TraverseActiveRegions.java @@ -6,10 +6,12 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.datasources.providers.*; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.*; +import org.broadinstitute.sting.gatk.walkers.ActiveRegionExtension; +import org.broadinstitute.sting.gatk.walkers.ActiveRegionWalker; +import org.broadinstitute.sting.gatk.walkers.DataSource; +import org.broadinstitute.sting.gatk.walkers.Walker; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocSortedSet; -import org.broadinstitute.sting.utils.activeregion.ActiveRegion; import org.broadinstitute.sting.utils.activeregion.ActivityProfile; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; @@ -28,7 +30,7 @@ public class TraverseActiveRegions extends TraversalEngine workQueue = new LinkedList(); + private final LinkedList workQueue = new LinkedList(); private final LinkedHashSet myReads = new LinkedHashSet(); @Override @@ -109,10 +111,23 @@ public class TraverseActiveRegions extends TraversalEngine activeRegions = bandPassFiltered.createActiveRegions( activeRegionExtension, maxRegionSize ); + final List activeRegions = bandPassFiltered.createActiveRegions( activeRegionExtension, maxRegionSize ); // add active regions to queue of regions to process - workQueue.addAll( activeRegions ); + // first check if can merge active regions over shard boundaries + if( !activeRegions.isEmpty() ) { + if( !workQueue.isEmpty() ) { + final org.broadinstitute.sting.utils.activeregion.ActiveRegion last = workQueue.getLast(); + final org.broadinstitute.sting.utils.activeregion.ActiveRegion first = activeRegions.get(0); + if( last.isActive == first.isActive && last.getLocation().contiguousP(first.getLocation()) && last.getLocation().size() + first.getLocation().size() <= maxRegionSize ) { + workQueue.removeLast(); + activeRegions.remove(first); + workQueue.add( new org.broadinstitute.sting.utils.activeregion.ActiveRegion(last.getLocation().union(first.getLocation()), first.isActive, this.engine.getGenomeLocParser(), activeRegionExtension) ); + } + } + workQueue.addAll( activeRegions ); + } + logger.debug("Integrated " + profile.size() + " isActive calls into " + activeRegions.size() + " regions." ); // now go and process all of the active regions @@ -170,7 +185,7 @@ public class TraverseActiveRegions extends TraversalEngine walker ) { // Just want to output the active regions to a file, not actually process them - for( final ActiveRegion activeRegion : workQueue ) { + for( final org.broadinstitute.sting.utils.activeregion.ActiveRegion activeRegion : workQueue ) { if( activeRegion.isActive ) { walker.activeRegionOutStream.println( activeRegion.getLocation() ); } @@ -183,7 +198,7 @@ public class TraverseActiveRegions extends TraversalEngine extends TraversalEngine reads, final Queue workQueue, final T sum, final ActiveRegionWalker walker ) { + private T processActiveRegion( final org.broadinstitute.sting.utils.activeregion.ActiveRegion activeRegion, final LinkedHashSet reads, final Queue workQueue, final T sum, final ActiveRegionWalker walker ) { final ArrayList placedReads = new ArrayList(); for( final GATKSAMRecord read : reads ) { final GenomeLoc readLoc = this.engine.getGenomeLocParser().createGenomeLoc( read ); if( activeRegion.getLocation().overlapsP( readLoc ) ) { // The region which the highest amount of overlap is chosen as the primary region for the read (tie breaking is done as right most region) long maxOverlap = activeRegion.getLocation().sizeOfOverlap( readLoc ); - ActiveRegion bestRegion = activeRegion; - for( final ActiveRegion otherRegionToTest : workQueue ) { + org.broadinstitute.sting.utils.activeregion.ActiveRegion bestRegion = activeRegion; + for( final org.broadinstitute.sting.utils.activeregion.ActiveRegion otherRegionToTest : workQueue ) { if( otherRegionToTest.getLocation().sizeOfOverlap(readLoc) >= maxOverlap ) { maxOverlap = otherRegionToTest.getLocation().sizeOfOverlap( readLoc ); bestRegion = otherRegionToTest; @@ -214,7 +229,7 @@ public class TraverseActiveRegions extends TraversalEngine extends TraversalEngine,Locu dataProvider.getShard().getReadMetrics().incrementNumIterations(); - if ( locus.hasExtendedEventPileup() ) { - // if the alignment context we received holds an "extended" pileup (i.e. pileup of insertions/deletions - // associated with the current site), we need to update the location. The updated location still starts - // at the current genomic position, but it has to span the length of the longest deletion (if any). - location = engine.getGenomeLocParser().setStop(location,location.getStop()+locus.getExtendedEventPileup().getMaxDeletionLength()); - - // it is possible that the new expanded location spans the current shard boundary; the next method ensures - // that when it is the case, the reference sequence held by the ReferenceView will be reloaded so that - // the view has all the bases we are gonna need. If the location fits within the current view bounds, - // the next call will not do anything to the view: - referenceView.expandBoundsToAccomodateLoc(location); - } - // create reference context. Note that if we have a pileup of "extended events", the context will // hold the (longest) stretch of deleted reference bases (if deletions are present in the pileup). ReferenceContext refContext = referenceView.getReferenceContext(location); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/ActiveRegionWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/ActiveRegionWalker.java index f217268d2..e38e166ea 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/ActiveRegionWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/ActiveRegionWalker.java @@ -12,7 +12,6 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.GenomeLocSortedSet; -import org.broadinstitute.sting.utils.activeregion.ActiveRegion; import org.broadinstitute.sting.utils.interval.IntervalMergingRule; import org.broadinstitute.sting.utils.interval.IntervalSetRule; import org.broadinstitute.sting.utils.interval.IntervalUtils; @@ -76,7 +75,7 @@ public abstract class ActiveRegionWalker extends Walker { +public class ClipReads extends ReadWalker { /** * If provided, ClipReads will write summary statistics about the clipping operations applied * to the reads to this file. diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/FindReadsWithNamesWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/FindReadsWithNames.java similarity index 98% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/FindReadsWithNamesWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/FindReadsWithNames.java index 7f9269725..f6f091cfc 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/FindReadsWithNamesWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/FindReadsWithNames.java @@ -49,7 +49,7 @@ import java.util.Set; */ @BAQMode(QualityMode = BAQ.QualityMode.ADD_TAG, ApplicationTime = BAQ.ApplicationTime.ON_OUTPUT) @Requires({DataSource.READS, DataSource.REFERENCE}) -public class FindReadsWithNamesWalker extends ReadWalker { +public class FindReadsWithNames extends ReadWalker { /** an optional argument to dump the reads out to a BAM file */ @Output(doc="Write output to this BAM filename instead of STDOUT") SAMFileWriter out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/FlagStatWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/FlagStat.java similarity index 97% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/FlagStatWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/FlagStat.java index 0777037bf..e5f77018c 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/FlagStatWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/FlagStat.java @@ -42,12 +42,12 @@ import java.text.NumberFormat; * @author aaron */ @Requires({DataSource.READS}) -public class FlagStatWalker extends ReadWalker { +public class FlagStat extends ReadWalker { @Output PrintStream out; // what comes out of the flagstat - static class FlagStat { + static class FlagStatus { long readCount = 0L; long QC_failure = 0L; long duplicates = 0L; @@ -117,7 +117,7 @@ public class FlagStatWalker extends ReadWalker { } - private FlagStat myStat = new FlagStat(); + private FlagStatus myStat = new FlagStatus(); public Integer map( ReferenceContext ref, GATKSAMRecord read, ReadMetaDataTracker metaDataTracker ) { myStat.readCount++; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/PileupWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/Pileup.java similarity index 91% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/PileupWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/Pileup.java index ac84bbddc..12b575760 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/PileupWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/Pileup.java @@ -34,9 +34,7 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.utils.Utils; -import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.pileup.PileupElement; -import org.broadinstitute.sting.utils.pileup.ReadBackedExtendedEventPileup; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import java.io.PrintStream; @@ -62,7 +60,7 @@ import java.util.List; * Associated command: * samtools pileup [-f in.ref.fasta] [-t in.ref_list] [-l in.site_list] [-iscg] [-T theta] [-N nHap] [-r pairDiffRate] */ -public class PileupWalker extends LocusWalker implements TreeReducible { +public class Pileup extends LocusWalker implements TreeReducible { @Output PrintStream out; @@ -79,13 +77,11 @@ public class PileupWalker extends LocusWalker implements TreeR String rods = getReferenceOrderedData( tracker ); - if ( context.hasBasePileup() ) { - ReadBackedPileup basePileup = context.getBasePileup(); - out.printf("%s %s", basePileup.getPileupString((char)ref.getBase()), rods); - if ( SHOW_VERBOSE ) - out.printf(" %s", createVerboseOutput(basePileup)); - out.println(); - } + ReadBackedPileup basePileup = context.getBasePileup(); + out.printf("%s %s", basePileup.getPileupString((char)ref.getBase()), rods); + if ( SHOW_VERBOSE ) + out.printf(" %s", createVerboseOutput(basePileup)); + out.println(); return 1; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/PrintRODsWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/PrintRODs.java similarity index 97% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/PrintRODsWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/PrintRODs.java index 7960f5c35..cfc096ea2 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/PrintRODsWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/PrintRODs.java @@ -39,7 +39,7 @@ import java.io.PrintStream; * Prints out all of the RODs in the input data set. Data is rendered using the toString() method * of the given ROD. */ -public class PrintRODsWalker extends RodWalker { +public class PrintRODs extends RodWalker { @Input(fullName="input", shortName = "input", doc="The input ROD which should be printed out.", required=true) public RodBinding input; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/PrintReadsWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/PrintReads.java similarity index 98% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/PrintReadsWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/PrintReads.java index cb2944d31..6e9960f3a 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/PrintReadsWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/PrintReads.java @@ -90,9 +90,9 @@ import java.util.TreeSet; */ @BAQMode(QualityMode = BAQ.QualityMode.ADD_TAG, ApplicationTime = BAQ.ApplicationTime.ON_OUTPUT) @Requires({DataSource.READS, DataSource.REFERENCE}) -public class PrintReadsWalker extends ReadWalker { +public class PrintReads extends ReadWalker { - @Output(doc="Write output to this BAM filename instead of STDOUT") + @Output(doc="Write output to this BAM filename instead of STDOUT", required = true) SAMFileWriter out; @Argument(fullName = "readGroup", shortName = "readGroup", doc="Exclude all reads with this read group from the output", required = false) diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/SplitSamFileWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/SplitSamFile.java similarity index 98% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/SplitSamFileWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/SplitSamFile.java index baaaf9e28..e0ee072fe 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/SplitSamFileWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/SplitSamFile.java @@ -47,14 +47,14 @@ import java.util.Map; */ @WalkerName("SplitSamFile") @Requires({DataSource.READS}) -public class SplitSamFileWalker extends ReadWalker> { +public class SplitSamFile extends ReadWalker> { @Argument(fullName="outputRoot", doc="output BAM file", required=false) public String outputRoot = null; @Argument(fullName = "bam_compression", shortName = "compress", doc = "Compression level to use for writing BAM files", required = false) public Integer BAMcompression = 5; - private static Logger logger = Logger.getLogger(SplitSamFileWalker.class); + private static Logger logger = Logger.getLogger(SplitSamFile.class); private static String VERSION = "0.0.1"; public void initialize() { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/AlleleBalance.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/AlleleBalance.java index 04c7ab756..30f81b20c 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/AlleleBalance.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/AlleleBalance.java @@ -28,13 +28,11 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; -import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; -import org.broadinstitute.sting.utils.pileup.ReadBackedExtendedEventPileup; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.variantcontext.Genotype; import org.broadinstitute.sting.utils.variantcontext.GenotypesContext; @@ -53,7 +51,7 @@ public class AlleleBalance extends InfoFieldAnnotation { char[] BASES = {'A','C','G','T'}; - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) return null; @@ -72,7 +70,7 @@ public class AlleleBalance extends InfoFieldAnnotation { // we care only about het calls AlignmentContext context = stratifiedContexts.get(genotype.getSampleName()); - if ( context == null || !context.hasBasePileup() ) + if ( context == null ) continue; final ReadBackedPileup pileup = context.getBasePileup(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/AlleleBalanceBySample.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/AlleleBalanceBySample.java index 06e91bf26..11c9c3a99 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/AlleleBalanceBySample.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/AlleleBalanceBySample.java @@ -3,7 +3,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.GenotypeAnnotation; import org.broadinstitute.sting.utils.MathUtils; @@ -11,9 +11,12 @@ import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.Genotype; +import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder; import org.broadinstitute.sting.utils.variantcontext.VariantContext; -import java.util.*; +import java.util.Arrays; +import java.util.Collection; +import java.util.List; /** @@ -21,15 +24,12 @@ import java.util.*; */ public class AlleleBalanceBySample extends GenotypeAnnotation implements ExperimentalAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, AlignmentContext stratifiedContext, VariantContext vc, Genotype g) { + public void annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, AlignmentContext stratifiedContext, VariantContext vc, Genotype g, final GenotypeBuilder gb) { Double ratio = annotateSNP(stratifiedContext, vc, g); if (ratio == null) - return null; - - Map map = new HashMap(); - map.put(getKeyNames().get(0), String.format("%.2f", ratio.doubleValue())); - return map; + return; + gb.attribute(getKeyNames().get(0), Double.valueOf(String.format("%.2f", ratio.doubleValue()))); } private Double annotateSNP(AlignmentContext stratifiedContext, VariantContext vc, Genotype g) { @@ -51,9 +51,6 @@ public class AlleleBalanceBySample extends GenotypeAnnotation implements Experim if ( altAlleles.size() == 0 ) return null; - if ( !stratifiedContext.hasBasePileup() ) - return null; - final String bases = new String(stratifiedContext.getBasePileup().getBases()); if ( bases.length() == 0 ) return null; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseCounts.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseCounts.java index 761251259..c3b6de65a 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseCounts.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseCounts.java @@ -34,7 +34,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; @@ -52,15 +52,13 @@ import java.util.Map; */ public class BaseCounts extends InfoFieldAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) return null; int[] counts = new int[4]; for ( Map.Entry sample : stratifiedContexts.entrySet() ) { - if ( !sample.getValue().hasBasePileup() ) - continue; for (byte base : sample.getValue().getBasePileup().getBases() ) { int index = BaseUtils.simpleBaseToBaseIndex(base); if ( index != -1 ) diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseQualityRankSumTest.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseQualityRankSumTest.java index 8bc5f06f4..0b919da18 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseQualityRankSumTest.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseQualityRankSumTest.java @@ -1,5 +1,6 @@ package org.broadinstitute.sting.gatk.walkers.annotator; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; @@ -15,7 +16,7 @@ import java.util.*; * The u-based z-approximation from the Mann-Whitney Rank Sum Test for base qualities (ref bases vs. bases of the alternate allele). * Note that the base quality rank sum test can not be calculated for homozygous sites. */ -public class BaseQualityRankSumTest extends RankSumTest { +public class BaseQualityRankSumTest extends RankSumTest implements StandardAnnotation { public List getKeyNames() { return Arrays.asList("BaseQRankSum"); } public List getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine("BaseQRankSum", 1, VCFHeaderLineType.Float, "Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities")); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ChromosomeCounts.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ChromosomeCounts.java index 057dba1f7..54837baad 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ChromosomeCounts.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ChromosomeCounts.java @@ -29,18 +29,17 @@ import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; +import org.broadinstitute.sting.gatk.walkers.Walker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBasedAnnotation; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFStandardHeaderLines; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.variantcontext.Allele; -import org.broadinstitute.sting.gatk.walkers.Walker; -import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; @@ -54,21 +53,22 @@ import java.util.*; */ public class ChromosomeCounts extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { - private String[] keyNames = { VCFConstants.ALLELE_NUMBER_KEY, VCFConstants.ALLELE_COUNT_KEY, VCFConstants.ALLELE_FREQUENCY_KEY }; - private VCFInfoHeaderLine[] descriptions = { new VCFInfoHeaderLine(VCFConstants.ALLELE_FREQUENCY_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Float, "Allele Frequency, for each ALT allele, in the same order as listed"), - new VCFInfoHeaderLine(VCFConstants.ALLELE_COUNT_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Integer, "Allele count in genotypes, for each ALT allele, in the same order as listed"), - new VCFInfoHeaderLine(VCFConstants.ALLELE_NUMBER_KEY, 1, VCFHeaderLineType.Integer, "Total number of alleles in called genotypes") }; + public static final String[] keyNames = { VCFConstants.ALLELE_NUMBER_KEY, VCFConstants.ALLELE_COUNT_KEY, VCFConstants.ALLELE_FREQUENCY_KEY }; + public static final VCFInfoHeaderLine[] descriptions = { + VCFStandardHeaderLines.getInfoLine(VCFConstants.ALLELE_FREQUENCY_KEY), + VCFStandardHeaderLines.getInfoLine(VCFConstants.ALLELE_COUNT_KEY), + VCFStandardHeaderLines.getInfoLine(VCFConstants.ALLELE_NUMBER_KEY) }; private Set founderIds = new HashSet(); - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( ! vc.hasGenotypes() ) return null; return VariantContextUtils.calculateChromosomeCounts(vc, new HashMap(), true,founderIds); } - public void initialize ( AnnotatorCompatibleWalker walker, GenomeAnalysisEngine toolkit, Set headerLines ){ + public void initialize ( AnnotatorCompatible walker, GenomeAnalysisEngine toolkit, Set headerLines ){ //If families were given, get the founders ids founderIds = ((Walker)walker).getSampleDB().getFounderIds(); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ClippingRankSumTest.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ClippingRankSumTest.java new file mode 100644 index 000000000..f41a40621 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ClippingRankSumTest.java @@ -0,0 +1,91 @@ +package org.broadinstitute.sting.gatk.walkers.annotator; + +import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; +import org.broadinstitute.sting.utils.QualityUtils; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; +import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.sam.AlignmentUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.variantcontext.Allele; + +import java.util.*; + +/** + * Created with IntelliJ IDEA. + * User: rpoplin + * Date: 6/28/12 + */ + +public class ClippingRankSumTest extends RankSumTest { + + public List getKeyNames() { return Arrays.asList("ClippingRankSum"); } + + public List getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine("ClippingRankSum", 1, VCFHeaderLineType.Float, "Z-score From Wilcoxon rank sum test of Alt vs. Ref number of hard clipped bases")); } + + protected void fillQualsFromPileup(byte ref, List alts, ReadBackedPileup pileup, List refQuals, List altQuals) { + return; + // This working implementation below needs to be tested for the UG pipeline + /* + for ( final PileupElement p : pileup ) { + if ( isUsableBase(p) ) { + if ( p.getBase() == ref ) { + refQuals.add((double)AlignmentUtils.getNumHardClippedBases(p.getRead())); + } else if ( alts.contains(p.getBase()) ) { + altQuals.add((double)AlignmentUtils.getNumHardClippedBases(p.getRead())); + } + } + } + */ + } + + protected void fillQualsFromPileup(final Allele ref, final List alts, final int refLoc, final Map> stratifiedContext, final List refQuals, final List altQuals) { + for ( final Map.Entry> alleleBin : stratifiedContext.entrySet() ) { + final boolean matchesRef = ref.equals(alleleBin.getKey()); + final boolean matchesAlt = alts.contains(alleleBin.getKey()); + if ( !matchesRef && !matchesAlt ) + continue; + + for ( final GATKSAMRecord read : alleleBin.getValue() ) { + if ( matchesRef ) + refQuals.add((double)AlignmentUtils.getNumHardClippedBases(read)); + else + altQuals.add((double)AlignmentUtils.getNumHardClippedBases(read)); + } + } + } + + protected void fillIndelQualsFromPileup(ReadBackedPileup pileup, List refQuals, List altQuals) { + return; + // This working implementation below needs to be tested for the UG pipeline + + /* + // equivalent is whether indel likelihoods for reads corresponding to ref allele are more likely than reads corresponding to alt allele ? + HashMap> indelLikelihoodMap = IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap(); + for (final PileupElement p: pileup) { + if (indelLikelihoodMap.containsKey(p) && p.getMappingQual() != 0 && p.getMappingQual() != QualityUtils.MAPPING_QUALITY_UNAVAILABLE) { + // retrieve likelihood information corresponding to this read + LinkedHashMap el = indelLikelihoodMap.get(p); + // by design, first element in LinkedHashMap was ref allele + double refLikelihood=0.0, altLikelihood=Double.NEGATIVE_INFINITY; + + for (Allele a : el.keySet()) { + + if (a.isReference()) + refLikelihood =el.get(a); + else { + double like = el.get(a); + if (like >= altLikelihood) + altLikelihood = like; + } + } + if (refLikelihood > altLikelihood + INDEL_LIKELIHOOD_THRESH) + refQuals.add((double)AlignmentUtils.getNumHardClippedBases(p.getRead())); + else if (altLikelihood > refLikelihood + INDEL_LIKELIHOOD_THRESH) + altQuals.add((double)AlignmentUtils.getNumHardClippedBases(p.getRead())); + } + } + */ + } +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java index f94d48893..28ca77f18 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java @@ -4,12 +4,12 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBasedAnnotation; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFStandardHeaderLines; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.VariantContext; @@ -38,13 +38,13 @@ import java.util.Map; */ public class DepthOfCoverage extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) return null; int depth = 0; for ( Map.Entry sample : stratifiedContexts.entrySet() ) - depth += sample.getValue().hasBasePileup() ? sample.getValue().getBasePileup().depthOfCoverage() : 0; + depth += sample.getValue().getBasePileup().depthOfCoverage(); Map map = new HashMap(); map.put(getKeyNames().get(0), String.format("%d", depth)); return map; @@ -68,5 +68,7 @@ public class DepthOfCoverage extends InfoFieldAnnotation implements StandardAnno public List getKeyNames() { return Arrays.asList(VCFConstants.DEPTH_KEY); } - public List getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Integer, "Approximate read depth; some reads may have been filtered")); } + public List getDescriptions() { + return Arrays.asList(VCFStandardHeaderLines.getInfoLine(getKeyNames().get(0))); + } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthPerAlleleBySample.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthPerAlleleBySample.java index acb1e378a..523aa81b1 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthPerAlleleBySample.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthPerAlleleBySample.java @@ -3,22 +3,22 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.GenotypeAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; +import org.broadinstitute.sting.utils.codecs.vcf.VCFStandardHeaderLines; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.Genotype; +import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.Arrays; import java.util.HashMap; import java.util.List; -import java.util.Map; /** @@ -46,22 +46,17 @@ public class DepthPerAlleleBySample extends GenotypeAnnotation implements Standa private static final String DEL = "DEL"; // constant, for speed: no need to create a key string for deletion allele every time - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, AlignmentContext stratifiedContext, VariantContext vc, Genotype g) { + public void annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, AlignmentContext stratifiedContext, VariantContext vc, Genotype g, GenotypeBuilder gb) { if ( g == null || !g.isCalled() ) - return null; + return; if ( vc.isSNP() ) - return annotateSNP(stratifiedContext, vc); - if ( vc.isIndel() ) - return annotateIndel(stratifiedContext, vc); - - return null; + annotateSNP(stratifiedContext, vc, gb); + else if ( vc.isIndel() ) + annotateIndel(stratifiedContext, vc, gb); } - private Map annotateSNP(AlignmentContext stratifiedContext, VariantContext vc) { - - if ( ! stratifiedContext.hasBasePileup() ) - return null; + private void annotateSNP(AlignmentContext stratifiedContext, VariantContext vc, GenotypeBuilder gb) { HashMap alleleCounts = new HashMap(); for ( Allele allele : vc.getAlleles() ) @@ -74,24 +69,18 @@ public class DepthPerAlleleBySample extends GenotypeAnnotation implements Standa } // we need to add counts in the correct order - Integer[] counts = new Integer[alleleCounts.size()]; + int[] counts = new int[alleleCounts.size()]; counts[0] = alleleCounts.get(vc.getReference().getBases()[0]); for (int i = 0; i < vc.getAlternateAlleles().size(); i++) counts[i+1] = alleleCounts.get(vc.getAlternateAllele(i).getBases()[0]); - Map map = new HashMap(); - map.put(getKeyNames().get(0), counts); - return map; + gb.AD(counts); } - private Map annotateIndel(AlignmentContext stratifiedContext, VariantContext vc) { - - if ( ! stratifiedContext.hasBasePileup() ) - return null; - + private void annotateIndel(AlignmentContext stratifiedContext, VariantContext vc, GenotypeBuilder gb) { ReadBackedPileup pileup = stratifiedContext.getBasePileup(); if ( pileup == null ) - return null; + return; final HashMap alleleCounts = new HashMap(); alleleCounts.put(REF_ALLELE, 0); @@ -127,16 +116,12 @@ public class DepthPerAlleleBySample extends GenotypeAnnotation implements Standa } } - Integer[] counts = new Integer[alleleCounts.size()]; + int[] counts = new int[alleleCounts.size()]; counts[0] = alleleCounts.get(REF_ALLELE); for (int i = 0; i < vc.getAlternateAlleles().size(); i++) counts[i+1] = alleleCounts.get( getAlleleRepresentation(vc.getAlternateAllele(i)) ); - Map map = new HashMap(); - map.put(getKeyNames().get(0), counts); - - //map.put(getKeyNames().get(0), counts); - return map; + gb.AD(counts); } private String getAlleleRepresentation(Allele allele) { @@ -149,7 +134,9 @@ public class DepthPerAlleleBySample extends GenotypeAnnotation implements Standa } // public String getIndelBases() - public List getKeyNames() { return Arrays.asList("AD"); } + public List getKeyNames() { return Arrays.asList(VCFConstants.GENOTYPE_ALLELE_DEPTHS); } - public List getDescriptions() { return Arrays.asList(new VCFFormatHeaderLine(getKeyNames().get(0), VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "Allelic depths for the ref and alt alleles in the order listed")); } + public List getDescriptions() { + return Arrays.asList(VCFStandardHeaderLines.getFormatLine(getKeyNames().get(0))); + } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java index 8af69d862..4669cfef8 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java @@ -29,7 +29,7 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBasedAnnotation; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; @@ -55,7 +55,7 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat private static final String FS = "FS"; private static final double MIN_PVALUE = 1E-320; - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( !vc.isVariant() ) return null; @@ -255,12 +255,9 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat for ( Map.Entry sample : stratifiedContexts.entrySet() ) { for (PileupElement p : sample.getValue().getBasePileup()) { - if ( p.isDeletion() || p.getRead().isReducedRead() ) // ignore deletions and reduced reads + if ( ! RankSumTest.isUsableBase(p, false) || p.getRead().isReducedRead() ) // ignore deletions and reduced reads continue; - if ( p.getRead().getMappingQuality() < 20 || p.getQual() < 20 ) - continue; // todo -- fixme, should take filtered context! - Allele base = Allele.create(p.getBase(), false); boolean isFW = !p.getRead().getReadNegativeStrandFlag(); @@ -296,14 +293,12 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat for ( String sample : stratifiedContexts.keySet() ) { final AlignmentContext context = stratifiedContexts.get(sample); - if ( context == null || !context.hasBasePileup() ) + if ( context == null ) continue; final ReadBackedPileup pileup = context.getBasePileup(); for ( final PileupElement p : pileup ) { - if ( p.getRead().isReducedRead() ) // ignore reduced reads - continue; - if ( p.getRead().getMappingQuality() < 20 ) + if ( ! RankSumTest.isUsableBase(p, true) || p.getRead().isReducedRead() ) // ignore reduced reads continue; if ( indelLikelihoodMap.containsKey(p) ) { // to classify a pileup element as ref or alt, we look at the likelihood associated with the allele associated to this element. diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/GCContent.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/GCContent.java index 11a64b49f..263320d1b 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/GCContent.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/GCContent.java @@ -3,7 +3,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.utils.BaseUtils; @@ -22,7 +22,7 @@ import java.util.Map; */ public class GCContent extends InfoFieldAnnotation implements ExperimentalAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { double content = computeGCContent(ref); Map map = new HashMap(); map.put(getKeyNames().get(0), String.format("%.2f", content)); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HaplotypeScore.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HaplotypeScore.java index 6abfdc7d2..45444e05d 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HaplotypeScore.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HaplotypeScore.java @@ -28,7 +28,7 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.AlignmentContextUtils; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; @@ -60,7 +60,7 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot private final static int MAX_CONSENSUS_HAPLOTYPES_TO_CONSIDER = 50; private final static char REGEXP_WILDCARD = '.'; - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if (stratifiedContexts.size() == 0) // size 0 means that call was made by someone else and we have no data here return null; @@ -74,9 +74,6 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot final int locus = ref.getLocus().getStart() + (ref.getLocus().getStop() - ref.getLocus().getStart()) / 2; - if ( !context.hasBasePileup() ) - return null; - final ReadBackedPileup pileup = context.getBasePileup(); // Compute all haplotypes consistent with the current read pileup @@ -86,7 +83,7 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot if (haplotypes != null) { for (final Genotype genotype : vc.getGenotypes()) { final AlignmentContext thisContext = stratifiedContexts.get(genotype.getSampleName()); - if (thisContext != null && thisContext.hasBasePileup()) { + if (thisContext != null) { final ReadBackedPileup thisPileup = thisContext.getBasePileup(); if (vc.isSNP()) scoreRA.add(scoreReadsAgainstHaplotypes(haplotypes, thisPileup, contextSize, locus)); // Taking the simple average of all sample's score since the score can be negative and the RMS doesn't make sense @@ -376,7 +373,7 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot } } - // indel likelihoods are stric log-probs, not phred scored + // indel likelihoods are strict log-probs, not phred scored double overallScore = 0.0; for (final double[] readHaplotypeScores : haplotypeScores) { overallScore += MathUtils.arrayMin(readHaplotypeScores); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HardyWeinberg.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HardyWeinberg.java index 795cdbeb5..6ba85de07 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HardyWeinberg.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HardyWeinberg.java @@ -4,7 +4,7 @@ import org.broad.tribble.util.popgen.HardyWeinbergCalculation; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.WorkInProgressAnnotation; import org.broadinstitute.sting.utils.QualityUtils; @@ -29,7 +29,7 @@ public class HardyWeinberg extends InfoFieldAnnotation implements WorkInProgress private static final int MIN_GENOTYPE_QUALITY = 10; private static final int MIN_LOG10_PERROR = MIN_GENOTYPE_QUALITY / 10; - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { final GenotypesContext genotypes = vc.getGenotypes(); if ( genotypes == null || genotypes.size() < MIN_SAMPLES ) diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HomopolymerRun.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HomopolymerRun.java index 197a00243..9f20bf375 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HomopolymerRun.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HomopolymerRun.java @@ -3,9 +3,8 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; @@ -17,13 +16,13 @@ import java.util.List; import java.util.Map; /** - * Largest contiguous homopolymer run of the variant allele in either direction on the reference. + * Largest contiguous homopolymer run of the variant allele in either direction on the reference. Computed only for bi-allelic sites. */ -public class HomopolymerRun extends InfoFieldAnnotation implements StandardAnnotation { +public class HomopolymerRun extends InfoFieldAnnotation { private boolean ANNOTATE_INDELS = true; - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( !vc.isBiallelic() ) return null; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/InbreedingCoeff.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/InbreedingCoeff.java index 0d2b3478d..fa3a7459b 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/InbreedingCoeff.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/InbreedingCoeff.java @@ -3,9 +3,9 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBasedAnnotation; import org.broadinstitute.sting.gatk.walkers.Walker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBasedAnnotation; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.utils.MathUtils; @@ -33,7 +33,7 @@ public class InbreedingCoeff extends InfoFieldAnnotation implements StandardAnno private static final int MIN_SAMPLES = 10; private Set founderIds; - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { //If available, get the founder IDs and cache them. the IC will only be computed on founders then. if(founderIds == null) founderIds = ((Walker)walker).getSampleDB().getFounderIds(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/IndelType.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/IndelType.java index e0abfcf3c..babaf7ee6 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/IndelType.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/IndelType.java @@ -3,7 +3,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.utils.IndelUtils; @@ -18,7 +18,7 @@ import java.util.*; */ public class IndelType extends InfoFieldAnnotation implements ExperimentalAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { int run; if (vc.isMixed()) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/LowMQ.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/LowMQ.java index 4a0c7a6da..7f5033adf 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/LowMQ.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/LowMQ.java @@ -3,12 +3,11 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.pileup.PileupElement; -import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.Arrays; @@ -22,7 +21,7 @@ import java.util.Map; */ public class LowMQ extends InfoFieldAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) return null; @@ -31,9 +30,6 @@ public class LowMQ extends InfoFieldAnnotation { double total = 0; for ( Map.Entry sample : stratifiedContexts.entrySet() ) { - if ( !sample.getValue().hasBasePileup() ) - continue; - for ( PileupElement p : sample.getValue().getBasePileup() ) { if ( p.getMappingQual() == 0 ) { mq0 += 1; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MVLikelihoodRatio.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MVLikelihoodRatio.java index e38d7d142..b6f24433e 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MVLikelihoodRatio.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MVLikelihoodRatio.java @@ -5,7 +5,8 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.samples.Sample; import org.broadinstitute.sting.gatk.samples.SampleDB; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.Walker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.RodRequiringAnnotation; @@ -31,9 +32,9 @@ public class MVLikelihoodRatio extends InfoFieldAnnotation implements Experiment private String fatherId; private String childId; - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( mendelianViolation == null ) { - if (checkAndSetSamples(((VariantAnnotator) walker).getSampleDB())) { + if (checkAndSetSamples(((Walker) walker).getSampleDB())) { mendelianViolation = new MendelianViolation(((VariantAnnotator)walker).minGenotypeQualityP ); } else { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityRankSumTest.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityRankSumTest.java index 4ce19e824..c7fb7ecba 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityRankSumTest.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityRankSumTest.java @@ -1,5 +1,6 @@ package org.broadinstitute.sting.gatk.walkers.annotator; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; @@ -16,7 +17,7 @@ import java.util.*; * The u-based z-approximation from the Mann-Whitney Rank Sum Test for mapping qualities (reads with ref bases vs. those with the alternate allele) * Note that the mapping quality rank sum test can not be calculated for homozygous sites. */ -public class MappingQualityRankSumTest extends RankSumTest { +public class MappingQualityRankSumTest extends RankSumTest implements StandardAnnotation { public List getKeyNames() { return Arrays.asList("MQRankSum"); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZero.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZero.java index 191c00a32..372d5bc9e 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZero.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZero.java @@ -3,12 +3,12 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFStandardHeaderLines; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.variantcontext.VariantContext; @@ -24,19 +24,17 @@ import java.util.Map; */ public class MappingQualityZero extends InfoFieldAnnotation implements StandardAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) return null; int mq0 = 0; for ( Map.Entry sample : stratifiedContexts.entrySet() ) { final AlignmentContext context = sample.getValue(); - if ( context.hasBasePileup() ) { - final ReadBackedPileup pileup = context.getBasePileup(); - for (PileupElement p : pileup ) { - if ( p.getMappingQual() == 0 ) - mq0++; - } + final ReadBackedPileup pileup = context.getBasePileup(); + for (PileupElement p : pileup ) { + if ( p.getMappingQual() == 0 ) + mq0++; } } Map map = new HashMap(); @@ -46,5 +44,7 @@ public class MappingQualityZero extends InfoFieldAnnotation implements StandardA public List getKeyNames() { return Arrays.asList(VCFConstants.MAPPING_QUALITY_ZERO_KEY); } - public List getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Integer, "Total Mapping Quality Zero Reads")); } + public List getDescriptions() { + return Arrays.asList(VCFStandardHeaderLines.getInfoLine(getKeyNames().get(0))); + } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZeroBySample.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZeroBySample.java index b1c037ba3..b5252f15b 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZeroBySample.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZeroBySample.java @@ -28,7 +28,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.GenotypeAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine; @@ -36,33 +36,30 @@ import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.variantcontext.Genotype; +import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.Arrays; -import java.util.HashMap; import java.util.List; -import java.util.Map; /** * Count for each sample of mapping quality zero reads */ public class MappingQualityZeroBySample extends GenotypeAnnotation { - public Map annotate(RefMetaDataTracker tracker, - AnnotatorCompatibleWalker walker, ReferenceContext ref, AlignmentContext context, VariantContext vc, Genotype g) { + public void annotate(RefMetaDataTracker tracker, + AnnotatorCompatible walker, ReferenceContext ref, AlignmentContext context, + VariantContext vc, Genotype g, GenotypeBuilder gb) { if ( g == null || !g.isCalled() ) - return null; + return; int mq0 = 0; - if ( context.hasBasePileup() ) { - final ReadBackedPileup pileup = context.getBasePileup(); - for (PileupElement p : pileup ) { - if ( p.getMappingQual() == 0 ) - mq0++; - } + final ReadBackedPileup pileup = context.getBasePileup(); + for (PileupElement p : pileup ) { + if ( p.getMappingQual() == 0 ) + mq0++; } - Map map = new HashMap(); - map.put(getKeyNames().get(0), String.format("%d", mq0)); - return map; + + gb.attribute(getKeyNames().get(0), mq0); } public List getKeyNames() { return Arrays.asList(VCFConstants.MAPPING_QUALITY_ZERO_KEY); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZeroFraction.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZeroFraction.java index 1315a6c52..9f542e3bd 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZeroFraction.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZeroFraction.java @@ -3,7 +3,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; @@ -22,7 +22,7 @@ import java.util.Map; */ public class MappingQualityZeroFraction extends InfoFieldAnnotation implements ExperimentalAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) return null; @@ -31,12 +31,10 @@ public class MappingQualityZeroFraction extends InfoFieldAnnotation implements E for ( Map.Entry sample : stratifiedContexts.entrySet() ) { AlignmentContext context = sample.getValue(); depth += context.size(); - if ( context.hasBasePileup() ) { - final ReadBackedPileup pileup = context.getBasePileup(); - for (PileupElement p : pileup ) { - if ( p.getMappingQual() == 0 ) - mq0++; - } + final ReadBackedPileup pileup = context.getBasePileup(); + for (PileupElement p : pileup ) { + if ( p.getMappingQual() == 0 ) + mq0++; } } if (depth > 0) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/NBaseCount.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/NBaseCount.java index acd3b9e35..ba4303b4a 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/NBaseCount.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/NBaseCount.java @@ -3,7 +3,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; @@ -20,7 +20,7 @@ import java.util.Map; * The number of N bases, counting only SOLiD data */ public class NBaseCount extends InfoFieldAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if( stratifiedContexts.size() == 0 ) return null; @@ -28,14 +28,13 @@ public class NBaseCount extends InfoFieldAnnotation { int countRegularBaseSolid = 0; for( final AlignmentContext context : stratifiedContexts.values() ) { - if ( context.hasBasePileup() ) { // must be called as getBasePileup may throw error when pileup has no bases - for( final PileupElement p : context.getBasePileup()) { - if( p.getRead().getReadGroup().getPlatform().toUpperCase().contains("SOLID") ) { - if( BaseUtils.isNBase( p.getBase() ) ) { - countNBaseSolid++; - } else if( BaseUtils.isRegularBase( p.getBase() ) ) { - countRegularBaseSolid++; - } + for( final PileupElement p : context.getBasePileup()) { + final String platform = p.getRead().getReadGroup().getPlatform(); + if( platform != null && platform.toUpperCase().contains("SOLID") ) { + if( BaseUtils.isNBase( p.getBase() ) ) { + countNBaseSolid++; + } else if( BaseUtils.isRegularBase( p.getBase() ) ) { + countRegularBaseSolid++; } } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/QualByDepth.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/QualByDepth.java index 51b834bd2..b62cd374b 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/QualByDepth.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/QualByDepth.java @@ -4,7 +4,7 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBasedAnnotation; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; @@ -21,14 +21,14 @@ import java.util.List; import java.util.Map; /** - * Variant confidence (given as (AB+BB)/AA from the PLs) / unfiltered depth. + * Variant confidence (from the QUAL field) / unfiltered depth. * * Low scores are indicative of false positive calls and artifacts. Note that QualByDepth requires sequencing * reads associated with the samples with polymorphic genotypes. */ public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( !vc.hasLog10PError() || stratifiedContexts.size() == 0 ) return null; @@ -48,7 +48,7 @@ public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotati if ( context == null ) continue; - depth += context.hasBasePileup() ? context.getBasePileup().depthOfCoverage() : 0; + depth += context.getBasePileup().depthOfCoverage(); } if ( depth == 0 ) @@ -63,7 +63,9 @@ public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotati public List getKeyNames() { return Arrays.asList("QD"); } - public List getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Float, "Variant Confidence/Quality by Depth")); } + public List getDescriptions() { + return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Float, "Variant Confidence/Quality by Depth")); + } public Map annotate(Map>> stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) @@ -86,8 +88,7 @@ public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotati continue; for ( final Map.Entry> alleleBin : alleleBins.entrySet() ) { - if ( !alleleBin.getKey().equals(Allele.NO_CALL) ) - depth += alleleBin.getValue().size(); + depth += alleleBin.getValue().size(); } } @@ -101,4 +102,4 @@ public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotati return map; } -} \ No newline at end of file +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RMSMappingQuality.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RMSMappingQuality.java index ea7d6ae33..842fde8ad 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RMSMappingQuality.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RMSMappingQuality.java @@ -4,14 +4,14 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBasedAnnotation; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFStandardHeaderLines; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; @@ -29,7 +29,7 @@ import java.util.Map; */ public class RMSMappingQuality extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) return null; @@ -42,12 +42,10 @@ public class RMSMappingQuality extends InfoFieldAnnotation implements StandardAn for ( Map.Entry sample : stratifiedContexts.entrySet() ) { AlignmentContext context = sample.getValue(); - if ( context.hasBasePileup() ) { - final ReadBackedPileup pileup = context.getBasePileup(); - for (PileupElement p : pileup ) { - if ( p.getMappingQual() != QualityUtils.MAPPING_QUALITY_UNAVAILABLE ) - qualities[index++] = p.getMappingQual(); - } + final ReadBackedPileup pileup = context.getBasePileup(); + for (PileupElement p : pileup ) { + if ( p.getMappingQual() != QualityUtils.MAPPING_QUALITY_UNAVAILABLE ) + qualities[index++] = p.getMappingQual(); } } @@ -87,5 +85,7 @@ public class RMSMappingQuality extends InfoFieldAnnotation implements StandardAn public List getKeyNames() { return Arrays.asList(VCFConstants.RMS_MAPPING_QUALITY_KEY); } - public List getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Float, "RMS Mapping Quality")); } + public List getDescriptions() { + return Arrays.asList(VCFStandardHeaderLines.getInfoLine(getKeyNames().get(0))); + } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RankSumTest.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RankSumTest.java index ad9600edf..bf6adcfac 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RankSumTest.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RankSumTest.java @@ -4,9 +4,8 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBasedAnnotation; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.utils.MannWhitneyU; import org.broadinstitute.sting.utils.QualityUtils; @@ -28,11 +27,11 @@ import java.util.Map; /** * Abstract root for all RankSum based annotations */ -public abstract class RankSumTest extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { +public abstract class RankSumTest extends InfoFieldAnnotation implements ActiveRegionBasedAnnotation { static final double INDEL_LIKELIHOOD_THRESH = 0.1; static final boolean DEBUG = false; - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if (stratifiedContexts.size() == 0) return null; @@ -63,9 +62,6 @@ public abstract class RankSumTest extends InfoFieldAnnotation implements Standar continue; } - if (!context.hasBasePileup()) - continue; - final ReadBackedPileup pileup = context.getBasePileup(); if (pileup == null) continue; @@ -152,9 +148,28 @@ public abstract class RankSumTest extends InfoFieldAnnotation implements Standar protected abstract void fillIndelQualsFromPileup(final ReadBackedPileup pileup, final List refQuals, final List altQuals); - protected static boolean isUsableBase(final PileupElement p) { + /** + * Can the base in this pileup element be used in comparative tests between ref / alt bases? + * + * Note that this function by default does not allow deletion pileup elements + * + * @param p the pileup element to consider + * @return true if this base is part of a meaningful read for comparison, false otherwise + */ + public static boolean isUsableBase(final PileupElement p) { + return isUsableBase(p, false); + } + + /** + * Can the base in this pileup element be used in comparative tests between ref / alt bases? + * + * @param p the pileup element to consider + * @param allowDeletions if true, allow p to be a deletion base + * @return true if this base is part of a meaningful read for comparison, false otherwise + */ + public static boolean isUsableBase(final PileupElement p, final boolean allowDeletions) { return !(p.isInsertionAtBeginningOfRead() || - p.isDeletion() || + (! allowDeletions && p.isDeletion()) || p.getMappingQual() == 0 || p.getMappingQual() == QualityUtils.MAPPING_QUALITY_UNAVAILABLE || ((int) p.getQual()) < QualityUtils.MIN_USABLE_Q_SCORE); // need the unBAQed quality score here diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java index 92e6f8536..630344992 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java @@ -4,6 +4,7 @@ import net.sf.samtools.Cigar; import net.sf.samtools.CigarElement; import net.sf.samtools.CigarOperator; import net.sf.samtools.SAMRecord; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.gatk.walkers.indels.PairHMMIndelErrorModel; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; @@ -21,7 +22,7 @@ import java.util.*; * The u-based z-approximation from the Mann-Whitney Rank Sum Test for the distance from the end of the read for reads with the alternate allele; if the alternate allele is only seen near the ends of reads this is indicative of error). * Note that the read position rank sum test can not be calculated for homozygous sites. */ -public class ReadPosRankSumTest extends RankSumTest { +public class ReadPosRankSumTest extends RankSumTest implements StandardAnnotation { public List getKeyNames() { return Arrays.asList("ReadPosRankSum"); @@ -56,12 +57,12 @@ public class ReadPosRankSumTest extends RankSumTest { continue; for ( final GATKSAMRecord read : alleleBin.getValue() ) { - final int offset = ReadUtils.getReadCoordinateForReferenceCoordinate( read.getUnclippedStart(), read.getCigar(), refLoc, ReadUtils.ClippingTail.RIGHT_TAIL, true ); + final int offset = ReadUtils.getReadCoordinateForReferenceCoordinate( read.getSoftStart(), read.getCigar(), refLoc, ReadUtils.ClippingTail.RIGHT_TAIL, true ); if ( offset == ReadUtils.CLIPPING_GOAL_NOT_REACHED ) continue; int readPos = AlignmentUtils.calcAlignmentByteArrayOffset( read.getCigar(), offset, false, false, 0, 0 ); - final int numAlignedBases = AlignmentUtils.getNumAlignedBases( read ); + final int numAlignedBases = AlignmentUtils.getNumAlignedBasesCountingSoftClips( read ); if (readPos > numAlignedBases / 2) readPos = numAlignedBases - (readPos + 1); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SampleList.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SampleList.java index cbf536e4f..7e4d44cf2 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SampleList.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SampleList.java @@ -28,7 +28,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; @@ -46,7 +46,7 @@ import java.util.Map; */ public class SampleList extends InfoFieldAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( vc.isMonomorphicInSamples() || !vc.hasGenotypes() ) return null; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SnpEff.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SnpEff.java index 6c860fce6..4d990e738 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SnpEff.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SnpEff.java @@ -30,7 +30,7 @@ import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.RodRequiringAnnotation; import org.broadinstitute.sting.utils.Utils; @@ -203,7 +203,7 @@ public class SnpEff extends InfoFieldAnnotation implements RodRequiringAnnotatio } } - public void initialize ( AnnotatorCompatibleWalker walker, GenomeAnalysisEngine toolkit, Set headerLines ) { + public void initialize ( AnnotatorCompatible walker, GenomeAnalysisEngine toolkit, Set headerLines ) { // Make sure that we actually have a valid SnpEff rod binding (just in case the user specified -A SnpEff // without providing a SnpEff rod via --snpEffFile): validateRodBinding(walker.getSnpEffRodBinding()); @@ -225,7 +225,7 @@ public class SnpEff extends InfoFieldAnnotation implements RodRequiringAnnotatio headerLines.add(new VCFHeaderLine(OUTPUT_VCF_HEADER_COMMAND_LINE_KEY, snpEffCommandLine.getValue())); } - public Map annotate ( RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc ) { + public Map annotate ( RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc ) { RodBinding snpEffRodBinding = walker.getSnpEffRodBinding(); // Get only SnpEff records that start at this locus, not merely span it: diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SpanningDeletions.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SpanningDeletions.java index 2d97f5d54..af2df8e6a 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SpanningDeletions.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SpanningDeletions.java @@ -3,7 +3,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; @@ -22,7 +22,7 @@ import java.util.Map; */ public class SpanningDeletions extends InfoFieldAnnotation implements StandardAnnotation { - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) return null; @@ -35,11 +35,9 @@ public class SpanningDeletions extends InfoFieldAnnotation implements StandardAn int depth = 0; for ( Map.Entry sample : stratifiedContexts.entrySet() ) { AlignmentContext context = sample.getValue(); - if ( context.hasBasePileup() ) { - final ReadBackedPileup pileup = context.getBasePileup(); - deletions += pileup.getNumberOfDeletions(); - depth += pileup.getNumberOfElements(); - } + final ReadBackedPileup pileup = context.getBasePileup(); + deletions += pileup.getNumberOfDeletions(); + depth += pileup.getNumberOfElements(); } Map map = new HashMap(); map.put(getKeyNames().get(0), String.format("%.2f", depth == 0 ? 0.0 : (double)deletions/(double)depth)); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TandemRepeatAnnotator.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TandemRepeatAnnotator.java new file mode 100644 index 000000000..eced387b3 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TandemRepeatAnnotator.java @@ -0,0 +1,81 @@ +/* + * Copyright (c) 2011, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.annotator; + +import org.broadinstitute.sting.gatk.contexts.AlignmentContext; +import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; +import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; +import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; + +import java.util.Arrays; +import java.util.HashMap; +import java.util.List; +import java.util.Map; + + +public class TandemRepeatAnnotator extends InfoFieldAnnotation implements StandardAnnotation { + private static final String STR_PRESENT = "STR"; + private static final String REPEAT_UNIT_KEY = "RU"; + private static final String REPEATS_PER_ALLELE_KEY = "RPA"; + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + if ( !vc.isIndel()) + return null; + + Pair,byte[]> result = VariantContextUtils.getNumTandemRepeatUnits(vc, ref.getForwardBases()); + if (result == null) + return null; + + byte[] repeatUnit = result.second; + List numUnits = result.first; + + Map map = new HashMap(); + map.put(STR_PRESENT,true); + map.put(REPEAT_UNIT_KEY,new String(repeatUnit)); + map.put(REPEATS_PER_ALLELE_KEY, numUnits); + + return map; + } + + public static final String[] keyNames = {STR_PRESENT, REPEAT_UNIT_KEY,REPEATS_PER_ALLELE_KEY }; + public static final VCFInfoHeaderLine[] descriptions = { + new VCFInfoHeaderLine(STR_PRESENT, 0, VCFHeaderLineType.Flag, "Variant is a short tandem repeat"), + new VCFInfoHeaderLine(REPEAT_UNIT_KEY, 1, VCFHeaderLineType.String, "Tandem repeat unit (bases)"), + new VCFInfoHeaderLine(REPEATS_PER_ALLELE_KEY, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "Number of times tandem repeat unit is repeated, for each allele (including reference)") }; + + public List getKeyNames() { + return Arrays.asList(keyNames); + } + + public List getDescriptions() { return Arrays.asList(descriptions); } + +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TechnologyComposition.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TechnologyComposition.java index e7c3bbaad..63694d809 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TechnologyComposition.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TechnologyComposition.java @@ -4,7 +4,7 @@ import org.broadinstitute.sting.commandline.Hidden; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; @@ -20,15 +20,15 @@ import java.util.List; import java.util.Map; /** - * Counts of bases from SLX, 454, and SOLiD at this site + * Counts of bases from Illumina, 454, and SOLiD at this site */ @Hidden public class TechnologyComposition extends InfoFieldAnnotation implements ExperimentalAnnotation { - private String nSLX = "NumSLX"; + private String nIllumina = "NumIllumina"; private String n454 ="Num454"; private String nSolid = "NumSOLiD"; private String nOther = "NumOther"; - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) return null; @@ -39,32 +39,30 @@ public class TechnologyComposition extends InfoFieldAnnotation implements Experi for ( Map.Entry sample : stratifiedContexts.entrySet() ) { AlignmentContext context = sample.getValue(); - if ( context.hasBasePileup() ) { - final ReadBackedPileup pileup = context.getBasePileup(); - for ( PileupElement p : pileup ) { - if(ReadUtils.is454Read(p.getRead())) - reads454++; - else if (ReadUtils.isSOLiDRead(p.getRead())) - readsSolid++; - else if (ReadUtils.isSLXRead(p.getRead())) - readsIllumina++; - else - readsOther++; - } + final ReadBackedPileup pileup = context.getBasePileup(); + for ( PileupElement p : pileup ) { + if(ReadUtils.is454Read(p.getRead())) + reads454++; + else if (ReadUtils.isSOLiDRead(p.getRead())) + readsSolid++; + else if (ReadUtils.isIlluminaRead(p.getRead())) + readsIllumina++; + else + readsOther++; } } Map map = new HashMap(); - map.put(nSLX, String.format("%d", readsIllumina)); + map.put(nIllumina, String.format("%d", readsIllumina)); map.put(n454, String.format("%d", reads454)); map.put(nSolid, String.format("%d", readsSolid)); map.put(nOther, String.format("%d", readsOther)); return map; } - public List getKeyNames() { return Arrays.asList(nSLX,n454,nSolid,nOther); } + public List getKeyNames() { return Arrays.asList(nIllumina,n454,nSolid,nOther); } - public List getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine(nSLX, 1, VCFHeaderLineType.Integer, "Number of SLX reads"), + public List getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine(nIllumina, 1, VCFHeaderLineType.Integer, "Number of Illumina reads"), new VCFInfoHeaderLine(n454, 1, VCFHeaderLineType.Integer, "Number of 454 reads"), new VCFInfoHeaderLine(nSolid, 1, VCFHeaderLineType.Integer, "Number of SOLiD reads"), new VCFInfoHeaderLine(nOther, 1, VCFHeaderLineType.Integer, "Number of Other technology reads")); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TransmissionDisequilibriumTest.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TransmissionDisequilibriumTest.java index 1f8ccf652..2e3578dcb 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TransmissionDisequilibriumTest.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TransmissionDisequilibriumTest.java @@ -4,7 +4,7 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.samples.Sample; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.RodRequiringAnnotation; @@ -28,7 +28,7 @@ public class TransmissionDisequilibriumTest extends InfoFieldAnnotation implemen private Set trios = null; private final static int MIN_NUM_VALID_TRIOS = 5; // don't calculate this population-level statistic if there are less than X trios with full genotype likelihood information - public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( trios == null ) { if ( walker instanceof VariantAnnotator ) { trios = ((VariantAnnotator) walker).getSampleDB().getChildrenWithParents(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotator.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotator.java index 976f601ab..d6d2beb91 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotator.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotator.java @@ -39,6 +39,7 @@ import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.classloader.PluginManager; import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.variantcontext.VariantContext; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import java.util.*; @@ -78,7 +79,7 @@ import java.util.*; @Allows(value={DataSource.READS, DataSource.REFERENCE}) @Reference(window=@Window(start=-50,stop=50)) @By(DataSource.REFERENCE) -public class VariantAnnotator extends RodWalker implements AnnotatorCompatibleWalker { +public class VariantAnnotator extends RodWalker implements AnnotatorCompatible { @ArgumentCollection protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); @@ -120,7 +121,7 @@ public class VariantAnnotator extends RodWalker implements Ann public List> getResourceRodBindings() { return resources; } @Output(doc="File to which variants should be written",required=true) - protected VCFWriter vcfWriter = null; + protected VariantContextWriter vcfWriter = null; /** * See the -list argument to view available annotations. @@ -304,12 +305,10 @@ public class VariantAnnotator extends RodWalker implements Ann // if the reference base is not ambiguous, we can annotate Map stratifiedContexts; if ( BaseUtils.simpleBaseToBaseIndex(ref.getBase()) != -1 ) { - if ( context.hasBasePileup() ) { - stratifiedContexts = AlignmentContextUtils.splitContextBySampleName(context.getBasePileup()); - annotatedVCs = new ArrayList(VCs.size()); - for ( VariantContext vc : VCs ) - annotatedVCs.add(engine.annotateContext(tracker, ref, stratifiedContexts, vc)); - } + stratifiedContexts = AlignmentContextUtils.splitContextBySampleName(context.getBasePileup()); + annotatedVCs = new ArrayList(VCs.size()); + for ( VariantContext vc : VCs ) + annotatedVCs.add(engine.annotateContext(tracker, ref, stratifiedContexts, vc)); } for ( VariantContext annotatedVC : annotatedVCs ) diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java index 413c32a24..073faf54e 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java @@ -41,12 +41,12 @@ import java.util.*; public class VariantAnnotatorEngine { - private List requestedInfoAnnotations; - private List requestedGenotypeAnnotations; + private List requestedInfoAnnotations = Collections.emptyList(); + private List requestedGenotypeAnnotations = Collections.emptyList(); private List requestedExpressions = new ArrayList(); private final HashMap, String> dbAnnotations = new HashMap, String>(); - private final AnnotatorCompatibleWalker walker; + private final AnnotatorCompatible walker; private final GenomeAnalysisEngine toolkit; private boolean requireStrictAlleleMatch = false; @@ -75,7 +75,7 @@ public class VariantAnnotatorEngine { } // use this constructor if you want all possible annotations - public VariantAnnotatorEngine(List annotationsToExclude, AnnotatorCompatibleWalker walker, GenomeAnalysisEngine toolkit) { + public VariantAnnotatorEngine(List annotationsToExclude, AnnotatorCompatible walker, GenomeAnalysisEngine toolkit) { this.walker = walker; this.toolkit = toolkit; requestedInfoAnnotations = AnnotationInterfaceManager.createAllInfoFieldAnnotations(); @@ -85,7 +85,7 @@ public class VariantAnnotatorEngine { } // use this constructor if you want to select specific annotations (and/or interfaces) - public VariantAnnotatorEngine(List annotationGroupsToUse, List annotationsToUse, List annotationsToExclude, AnnotatorCompatibleWalker walker, GenomeAnalysisEngine toolkit) { + public VariantAnnotatorEngine(List annotationGroupsToUse, List annotationsToUse, List annotationsToExclude, AnnotatorCompatible walker, GenomeAnalysisEngine toolkit) { this.walker = walker; this.toolkit = toolkit; initializeAnnotations(annotationGroupsToUse, annotationsToUse, annotationsToExclude); @@ -164,8 +164,12 @@ public class VariantAnnotatorEngine { descriptions.addAll(annotation.getDescriptions()); for ( GenotypeAnnotation annotation : requestedGenotypeAnnotations ) descriptions.addAll(annotation.getDescriptions()); - for ( String db : dbAnnotations.values() ) - descriptions.add(new VCFInfoHeaderLine(db, 0, VCFHeaderLineType.Flag, (db.equals(VCFConstants.DBSNP_KEY) ? "dbSNP" : db) + " Membership")); + for ( String db : dbAnnotations.values() ) { + if ( VCFStandardHeaderLines.getInfoLine(db, false) != null ) + descriptions.add(VCFStandardHeaderLines.getInfoLine(db)); + else + descriptions.add(new VCFInfoHeaderLine(db, 0, VCFHeaderLineType.Flag, db + " Membership")); + } return descriptions; } @@ -203,8 +207,9 @@ public class VariantAnnotatorEngine { // go through all the requested info annotationTypes for ( InfoFieldAnnotation annotationType : requestedInfoAnnotations ) { Map annotationsFromCurrentType = ((ActiveRegionBasedAnnotation)annotationType).annotate(stratifiedContexts, vc); - if ( annotationsFromCurrentType != null ) + if ( annotationsFromCurrentType != null ) { infoAnnotations.putAll(annotationsFromCurrentType); + } } // generate a new annotated VC @@ -216,11 +221,11 @@ public class VariantAnnotatorEngine { if ( dbSet.getValue().equals(VCFConstants.DBSNP_KEY) ) { final String rsID = VCFUtils.rsIDOfFirstRealVariant(tracker.getValues(dbSet.getKey(), ref.getLocus()), vc.getType()); - // put the DB key into the INFO field - infoAnnotations.put(VCFConstants.DBSNP_KEY, rsID != null); - // add the ID if appropriate if ( rsID != null ) { + // put the DB key into the INFO field + infoAnnotations.put(VCFConstants.DBSNP_KEY, true); + if ( vc.emptyID() ) { vc = new VariantContextBuilder(vc).id(rsID).make(); } else if ( walker.alwaysAppendDbsnpId() && vc.getID().indexOf(rsID) == -1 ) { @@ -236,7 +241,8 @@ public class VariantAnnotatorEngine { break; } } - infoAnnotations.put(dbSet.getValue(), overlapsComp); + if ( overlapsComp ) + infoAnnotations.put(dbSet.getValue(), overlapsComp); } } @@ -261,24 +267,22 @@ public class VariantAnnotatorEngine { } private GenotypesContext annotateGenotypes(RefMetaDataTracker tracker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { - if ( requestedGenotypeAnnotations.size() == 0 ) + if ( requestedGenotypeAnnotations.isEmpty() ) return vc.getGenotypes(); - GenotypesContext genotypes = GenotypesContext.create(vc.getNSamples()); + final GenotypesContext genotypes = GenotypesContext.create(vc.getNSamples()); for ( final Genotype genotype : vc.getGenotypes() ) { AlignmentContext context = stratifiedContexts.get(genotype.getSampleName()); + if ( context == null ) { genotypes.add(genotype); - continue; + } else { + final GenotypeBuilder gb = new GenotypeBuilder(genotype); + for ( final GenotypeAnnotation annotation : requestedGenotypeAnnotations ) { + annotation.annotate(tracker, walker, ref, context, vc, genotype, gb); + } + genotypes.add(gb.make()); } - - Map genotypeAnnotations = new HashMap(genotype.getAttributes()); - for ( GenotypeAnnotation annotation : requestedGenotypeAnnotations ) { - Map result = annotation.annotate(tracker, walker, ref, context, vc, genotype); - if ( result != null ) - genotypeAnnotations.putAll(result); - } - genotypes.add(new Genotype(genotype.getSampleName(), genotype.getAlleles(), genotype.getLog10PError(), genotype.getFilters(), genotypeAnnotations, genotype.isPhased())); } return genotypes; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/AnnotatorCompatibleWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/AnnotatorCompatible.java similarity index 93% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/AnnotatorCompatibleWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/AnnotatorCompatible.java index 1331ad5df..f610a2ba8 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/AnnotatorCompatibleWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/AnnotatorCompatible.java @@ -5,7 +5,7 @@ import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.List; -public interface AnnotatorCompatibleWalker { +public interface AnnotatorCompatible { // getter methods for various used bindings public abstract RodBinding getSnpEffRodBinding(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/GenotypeAnnotation.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/GenotypeAnnotation.java index f87f0e310..bc20f6c97 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/GenotypeAnnotation.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/GenotypeAnnotation.java @@ -5,16 +5,17 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine; import org.broadinstitute.sting.utils.variantcontext.Genotype; +import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.List; -import java.util.Map; public abstract class GenotypeAnnotation extends VariantAnnotatorAnnotation { // return annotations for the given contexts/genotype split by sample - public abstract Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, - ReferenceContext ref, AlignmentContext stratifiedContext, VariantContext vc, Genotype g); + public abstract void annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, + ReferenceContext ref, AlignmentContext stratifiedContext, + VariantContext vc, Genotype g, GenotypeBuilder gb ); // return the descriptions used for the VCF FORMAT meta field public abstract List getDescriptions(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/InfoFieldAnnotation.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/InfoFieldAnnotation.java index b94bee31b..1569a605f 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/InfoFieldAnnotation.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/InfoFieldAnnotation.java @@ -11,7 +11,7 @@ import java.util.Map; public abstract class InfoFieldAnnotation extends VariantAnnotatorAnnotation { // return annotations for the given contexts split by sample - public abstract Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, + public abstract Map annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc); // return the descriptions used for the VCF INFO meta field diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java index 521f89016..996d85a67 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java @@ -37,5 +37,5 @@ public abstract class VariantAnnotatorAnnotation { public abstract List getKeyNames(); // initialization method (optional for subclasses, and therefore non-abstract) - public void initialize ( AnnotatorCompatibleWalker walker, GenomeAnalysisEngine toolkit, Set headerLines ) { } + public void initialize ( AnnotatorCompatible walker, GenomeAnalysisEngine toolkit, Set headerLines ) { } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCFWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCF.java similarity index 97% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCFWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCF.java index ec67563dc..627d561f6 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCFWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCF.java @@ -31,12 +31,13 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.datasources.rmd.ReferenceOrderedDataSource; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.utils.codecs.beagle.BeagleFeature; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.codecs.beagle.BeagleFeature; import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.variantcontext.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import java.util.*; @@ -71,7 +72,7 @@ import static java.lang.Math.log10;

Note that Beagle produces some of these files compressed as .gz, so gunzip must be run on them before walker is run in order to decompress them

*/ -public class BeagleOutputToVCFWalker extends RodWalker { +public class BeagleOutputToVCF extends RodWalker { @ArgumentCollection protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); @@ -102,7 +103,7 @@ public class BeagleOutputToVCFWalker extends RodWalker { public RodBinding beaglePhased; @Output(doc="VCF File to which variants should be written",required=true) - protected VCFWriter vcfWriter = null; + protected VariantContextWriter vcfWriter = null; /** * If this argument is absent, and if Beagle determines that there is no sample in a site that has a variant genotype, the site will be marked as filtered (Default behavior). @@ -203,8 +204,6 @@ public class BeagleOutputToVCFWalker extends RodWalker { } for ( final Genotype g : vc_input.getGenotypes() ) { - Set filters = new LinkedHashSet(g.getFilters()); - boolean genotypeIsPhased = true; String sample = g.getSampleName(); @@ -270,7 +269,7 @@ public class BeagleOutputToVCFWalker extends RodWalker { // Compute new GQ field = -10*log10Pr(Genotype call is wrong) // Beagle gives probability that genotype is AA, AB and BB. // Which, by definition, are prob of hom ref, het and hom var. - Double probWrongGenotype, genotypeQuality; + double probWrongGenotype, genotypeQuality; Double homRefProbability = Double.valueOf(beagleProbabilities.get(0)); Double hetProbability = Double.valueOf(beagleProbabilities.get(1)); Double homVarProbability = Double.valueOf(beagleProbabilities.get(2)); @@ -299,7 +298,7 @@ public class BeagleOutputToVCFWalker extends RodWalker { else genotypeQuality = log10(probWrongGenotype); - HashMap originalAttributes = new HashMap(g.getAttributes()); + HashMap originalAttributes = new HashMap(g.getExtendedAttributes()); // get original encoding and add to keynotype attributes String a1, a2, og; @@ -327,7 +326,7 @@ public class BeagleOutputToVCFWalker extends RodWalker { else { originalAttributes.put("OG","."); } - Genotype imputedGenotype = new Genotype(g.getSampleName(), alleles, genotypeQuality, filters,originalAttributes , genotypeIsPhased); + Genotype imputedGenotype = new GenotypeBuilder(g).alleles(alleles).log10PError(genotypeQuality).attributes(originalAttributes).phased(genotypeIsPhased).make(); if ( imputedGenotype.isHet() || imputedGenotype.isHomVar() ) { beagleVarCounts++; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInputWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInput.java similarity index 97% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInputWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInput.java index aa71f4399..14e92a066 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInputWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInput.java @@ -37,9 +37,13 @@ import org.broadinstitute.sting.gatk.walkers.variantrecalibration.VQSRCalibratio import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.SampleUtils; -import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.codecs.vcf.VCFFilterHeaderLine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFUtils; import org.broadinstitute.sting.utils.exceptions.StingException; import org.broadinstitute.sting.utils.variantcontext.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import java.io.File; import java.io.PrintStream; @@ -71,7 +75,7 @@ import java.util.*; * */ -public class ProduceBeagleInputWalker extends RodWalker { +public class ProduceBeagleInput extends RodWalker { @ArgumentCollection protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); @@ -108,7 +112,7 @@ public class ProduceBeagleInputWalker extends RodWalker { public double bootstrap = 0.0; @Hidden @Argument(fullName = "bootstrap_vcf",shortName = "bvcf", doc = "Output a VCF with the records used for bootstrapping filtered out", required = false) - VCFWriter bootstrapVCFOutput = null; + VariantContextWriter bootstrapVCFOutput = null; /** * If sample gender is known, this flag should be set to true to ensure that Beagle treats male Chr X properly. diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/VariantsToBeagleUnphasedWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/VariantsToBeagleUnphased.java similarity index 96% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/VariantsToBeagleUnphasedWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/VariantsToBeagleUnphased.java index 22c39d794..6d83a1d2a 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/VariantsToBeagleUnphasedWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/VariantsToBeagleUnphased.java @@ -38,12 +38,12 @@ import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFUtils; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.Genotype; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import java.io.PrintStream; import java.util.Arrays; @@ -54,7 +54,7 @@ import java.util.Set; * in input variant file. Will additional hold back a fraction of the sites for evaluation, marking the * genotypes at that sites as missing, and writing the truth of these sites to a second VCF file */ -public class VariantsToBeagleUnphasedWalker extends RodWalker { +public class VariantsToBeagleUnphased extends RodWalker { @Input(fullName="variants", shortName = "V", doc="Input VCF file", required=true) public RodBinding variants; @@ -65,7 +65,7 @@ public class VariantsToBeagleUnphasedWalker extends RodWalker public double bootstrap = 0.0; @Argument(fullName = "bootstrap_vcf",shortName = "bsvcf", doc = "Output a VCF with the records used for bootstrapping filtered out", required = false) - VCFWriter bootstrapVCFOutput = null; + VariantContextWriter bootstrapVCFOutput = null; @Argument(fullName = "missing", shortName = "missing", doc = "String to identify missing data in beagle output", required = false) public String MISSING = "?"; @@ -104,7 +104,7 @@ public class VariantsToBeagleUnphasedWalker extends RodWalker GenomeLoc loc = context.getLocation(); VariantContext vc = tracker.getFirstValue(variants, loc); - if ( ProduceBeagleInputWalker.canBeOutputToBeagle(vc) ) { + if ( ProduceBeagleInput.canBeOutputToBeagle(vc) ) { // do we want to hold back this site? boolean makeMissing = dropSite(vc); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRGatherer.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRGatherer.java index d91ddd221..122958ac2 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRGatherer.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRGatherer.java @@ -48,7 +48,7 @@ public class BQSRGatherer extends Gatherer { @Override public void gather(List inputs, File output) { RecalibrationReport generalReport = null; - PrintStream outputFile; + final PrintStream outputFile; try { outputFile = new PrintStream(output); } catch(FileNotFoundException e) { @@ -56,7 +56,7 @@ public class BQSRGatherer extends Gatherer { } for (File input : inputs) { - RecalibrationReport inputReport = new RecalibrationReport(input); + final RecalibrationReport inputReport = new RecalibrationReport(input); if (generalReport == null) generalReport = inputReport; else @@ -65,17 +65,17 @@ public class BQSRGatherer extends Gatherer { if (generalReport == null) throw new ReviewedStingException(EMPTY_INPUT_LIST); - generalReport.calculateEmpiricalAndQuantizedQualities(); + generalReport.calculateQuantizedQualities(); RecalibrationArgumentCollection RAC = generalReport.getRAC(); if (RAC.recalibrationReport != null && !RAC.NO_PLOTS) { - File recal_out = new File(output.getName() + ".original"); - RecalibrationReport originalReport = new RecalibrationReport(RAC.recalibrationReport); - RecalDataManager.generateRecalibrationPlot(recal_out, originalReport.getKeysAndTablesMap(), generalReport.getKeysAndTablesMap(), RAC.KEEP_INTERMEDIATE_FILES); + final File recal_out = new File(output.getName() + ".original"); + final RecalibrationReport originalReport = new RecalibrationReport(RAC.recalibrationReport); + RecalDataManager.generateRecalibrationPlot(recal_out, originalReport.getRecalibrationTables(), generalReport.getRecalibrationTables(), generalReport.getCovariates(), RAC.KEEP_INTERMEDIATE_FILES); } else if (!RAC.NO_PLOTS) { - File recal_out = new File(output.getName() + ".recal"); - RecalDataManager.generateRecalibrationPlot(recal_out, generalReport.getKeysAndTablesMap(), RAC.KEEP_INTERMEDIATE_FILES); + final File recal_out = new File(output.getName() + ".recal"); + RecalDataManager.generateRecalibrationPlot(recal_out, generalReport.getRecalibrationTables(), generalReport.getCovariates(), RAC.KEEP_INTERMEDIATE_FILES); } generalReport.output(outputFile); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRKeyManager.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRKeyManager.java deleted file mode 100644 index 1cb02f1c1..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRKeyManager.java +++ /dev/null @@ -1,341 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.bqsr; - -import org.broadinstitute.sting.utils.BitSetUtils; - -import java.util.*; - -/** - * This class provides all the functionality for the BitSet representation of the keys to the hash table of BQSR - * - * It also handles the event type "covariate" which is not exactly a covariate, but is added as a key to the hashmap. The Key Manager will - * add the event type as a bitset to the end of the covariate bitset key. This way, it won't get int the way of masking the information - * out of the key for the actual covariates, and having the covariates handle it. The key manager handles the event type. - * - * The keys represented by this key manager will always have the same order: - * - * RequiredCovariate1, RequiredCovariate2, ..., RequiredCovariateN, OptionalCovariate1, OptionalCovariateID, EventType - * RequiredCovariate1, RequiredCovariate2, ..., RequiredCovariateN, OptionalCovariate2, OptionalCovariateID, EventType - * ... - * RequiredCovariate1, RequiredCovariate2, ..., RequiredCovariateN, OptionalCovariateN, OptionalCovariateID, EventType - * - * - * Note that Optional Covariates are optional, and the Key Manager should operate without them if necessary. - * - * @author Mauricio Carneiro - * @since 3/6/12 - */ -public class BQSRKeyManager { - private final List requiredCovariates; - private final List optionalCovariates; - private final Map covariateNameToIDMap; - - private int nRequiredBits; // Number of bits used to represent the required covariates - private int nOptionalBits; // Number of bits used to represent the standard covaraites - private final int nOptionalIDBits; // Number of bits used to represent the optional covariates IDs - private final int totalNumberOfBits; // Sum of all of the above plus the event bits - - private final BitSet optionalCovariateMask; // Standard mask for optional covariates bitset - private final BitSet optionalCovariateIDMask; // Standard mask for optional covariates order bitset - - /** - * Initializes the KeyManager with the total number of covariates to use - * - * @param requiredCovariates the ordered list of required covariates - * @param optionalCovariates the ordered list of optional covariates - */ - public BQSRKeyManager(List requiredCovariates, List optionalCovariates) { - this.requiredCovariates = new ArrayList(requiredCovariates.size()); // initialize the required covariates list - this.optionalCovariates = new ArrayList(optionalCovariates.size()); // initialize the optional covariates list (size may be 0, it's okay) - this.covariateNameToIDMap = new HashMap(optionalCovariates.size()*2); // the map from covariate name to covariate id (when reading GATK Reports, we get the IDs as names of covariates) - - nRequiredBits = 0; - for (Covariate required : requiredCovariates) { // create a list of required covariates with the extra information for key management - int nBits = required.numberOfBits(); // number of bits used by this covariate - BitSet mask = genericMask(nRequiredBits, nBits); // create a mask for this covariate - this.requiredCovariates.add(new RequiredCovariateInfo(nRequiredBits, mask, required)); // Create an object for this required covariate - nRequiredBits += nBits; - } - - short id = 0; - nOptionalBits = 0; - for (Covariate optional : optionalCovariates) { - int nBits = optional.numberOfBits(); // number of bits used by this covariate - nOptionalBits = Math.max(nOptionalBits, nBits); // optional covariates are represented by the number of bits needed by biggest covariate - BitSet optionalID = BitSetUtils.bitSetFrom(id); // calculate the optional covariate ID for this covariate - this.optionalCovariates.add(new OptionalCovariateInfo(optionalID, optional)); // optional covariates have standardized mask and number of bits, so no need to store in the RequiredCovariateInfo object - String covariateName = optional.getClass().getSimpleName().split("Covariate")[0]; // get the name of the covariate (without the "covariate" part of it) so we can match with the GATKReport - this.covariateNameToIDMap.put(covariateName, id); - id++; - } - - nOptionalIDBits = BitSetUtils.numberOfBitsToRepresent(optionalCovariates.size()); // number of bits used to represent the covariate ID - optionalCovariateMask = genericMask(nRequiredBits, nOptionalBits); // the generic mask to extract optional covariate bits from the combined bitset - optionalCovariateIDMask = genericMask(nRequiredBits + nOptionalBits, nOptionalIDBits); // the generic mask to extract optional covariate ID bits from the combined bitset - totalNumberOfBits = nRequiredBits + nOptionalBits + nOptionalIDBits + bitsInEventType(); // total number of bits used in the final key - } - - /** - * Generates one key per optional covariate. - * - * Keys include all required covariates, the standard covariate and the event type. - * - * Example allKeys: - * RG, QUAL, CYCLE, CONTEXT - * - * List of BitSets returned by this example (given eventType): - * RG, QUAL, CYCLE, EVENT - * RG, QUAL, CONTEXT, EVENT - * - * Note: If there are no optional covariates, only one bitset key will be returned with all the required covariates and the event type - * - * @param allKeys The keys in bitset representation for each covariate - * @param eventType The type of event described by this keyset (e.g. mismatches, insertions, deletions) - * @return one key in bitset representation per covariate - */ - public List bitSetsFromAllKeys(BitSet[] allKeys, EventType eventType) { - List allBitSets = new LinkedList(); // Generate one key per optional covariate - - BitSet eventBitSet = BitSetUtils.bitSetFrom(eventType.index); // create a bitset with the event type - int eventTypeBitIndex = nRequiredBits + nOptionalBits + nOptionalIDBits; // Location in the bit set to add the event type bits - - int covariateIndex = 0; - BitSet requiredKey = new BitSet(nRequiredBits); // This will be a bitset holding all the required keys, to replicate later on - for (RequiredCovariateInfo infoRequired : requiredCovariates) - addBitSetToKeyAtLocation(requiredKey, allKeys[covariateIndex++], infoRequired.bitsBefore); // Add all the required covariates to the key set - - for (OptionalCovariateInfo infoOptional : optionalCovariates) { - BitSet covariateKey = allKeys[covariateIndex++]; // get the bitset from all keys - if (covariateKey == null) - continue; // do not add nulls to the final set of keys. - - BitSet optionalKey = new BitSet(totalNumberOfBits); // create a new key for this optional covariate - optionalKey.or(requiredKey); // import all the required covariates - addBitSetToKeyAtLocation(optionalKey, covariateKey, nRequiredBits); // add the optional covariate right after the required covariates - addBitSetToKeyAtLocation(optionalKey, infoOptional.covariateID, nRequiredBits + nOptionalBits); // add the optional covariate ID right after the optional covarite - addBitSetToKeyAtLocation(optionalKey, eventBitSet, eventTypeBitIndex); // Add the event type - allBitSets.add(optionalKey); // add this key to the list of keys - } - - if (optionalCovariates.size() == 0) { // special case when we have no optional covariates, add the event type to the required key (our only key) - addBitSetToKeyAtLocation(requiredKey, eventBitSet, eventTypeBitIndex); // Add the event type - allBitSets.add(requiredKey); // add this key to the list of keys - } - - return allBitSets; - } - - /** - * Generates one bitset key for the covariates represented in Object[] key - * - * The covariates will have the actual objects produced by the covariates (probably read from the recalibration data file) - * and will contain all required covariates and one (or none) optional covariates. Therefore, the product is one bitset key, not many. - * - * Example key: - * RG, QUAL, CYCLE, CYCLE_ID, EventType - * - * @param key list of objects produced by the required covariates followed by one or zero optional covariates. - * @return a bitset key representing these objects. Bitset encryption is done using the covariate's interface. - */ - public BitSet bitSetFromKey(Object[] key) { - BitSet bitSetKey = new BitSet(totalNumberOfBits); - - int requiredCovariate = 0; - for (RequiredCovariateInfo infoRequired : requiredCovariates) { - BitSet covariateBitSet = infoRequired.covariate.bitSetFromKey(key[requiredCovariate++]); // create a bitset from the object key provided using the required covariate's interface - addBitSetToKeyAtLocation(bitSetKey, covariateBitSet, infoRequired.bitsBefore); // add it to the bitset key - } - - if (optionalCovariates.size() > 0) { - int optionalCovariate = requiredCovariates.size(); // the optional covariate index in the key array - int covariateIDIndex = optionalCovariate + 1; // the optional covariate ID index is right after the optional covariate's - int covariateID = parseCovariateID(key[covariateIDIndex]); // when reading the GATK Report the ID may come in a String instead of an index - OptionalCovariateInfo infoOptional = optionalCovariates.get(covariateID); // so we can get the optional covariate information - - BitSet covariateBitSet = infoOptional.covariate.bitSetFromKey(key[optionalCovariate]); // convert the optional covariate key into a bitset using the covariate's interface - addBitSetToKeyAtLocation(bitSetKey, covariateBitSet, nRequiredBits); // add the optional covariate right after the required covariates - addBitSetToKeyAtLocation(bitSetKey, infoOptional.covariateID, nRequiredBits + nOptionalBits); // add the optional covariate ID right after the optional covarite - } - - int eventIndex = key.length - 1; // the event type is always the last key - int eventTypeBitIndex = nRequiredBits + nOptionalBits + nOptionalIDBits; // location in the bit set to add the event type bits - BitSet eventBitSet = bitSetFromEvent((EventType) key[eventIndex]); // get the bit set representation of the event type - addBitSetToKeyAtLocation(bitSetKey, eventBitSet, eventTypeBitIndex); // add the event type - - return bitSetKey; - } - - /** - * Covariate id can be either the covariate name (String) or the actual id (short). This method - * finds it's type and converts accordingly to the short notation. - * - * @param id the string or short representation of the optional covariate id - * @return the short representation of the optional covariate id. - */ - private short parseCovariateID(Object id) { - return (id instanceof String) ? covariateNameToIDMap.get(id.toString()) : (Short) id; - } - - /** - * Generates a key set of objects from a combined bitset key. - * - * Masks out each covariate independently and decodes their values (Object) into a keyset - * - * @param key the bitset representation of the keys - * @return an object array with the values for each key - */ - public List keySetFrom(BitSet key) { - List objectKeys = new ArrayList(); - for (RequiredCovariateInfo info : requiredCovariates) { - BitSet covariateBitSet = extractBitSetFromKey(key, info.mask, info.bitsBefore); // get the covariate's bitset - objectKeys.add(info.covariate.keyFromBitSet(covariateBitSet)); // convert the bitset to object using covariate's interface - } - - if (optionalCovariates.size() > 0) { - BitSet covBitSet = extractBitSetFromKey(key, optionalCovariateMask, nRequiredBits); // mask out the covariate bit set - BitSet idbs = extractBitSetFromKey(key, optionalCovariateIDMask, nRequiredBits + nOptionalBits); // mask out the covariate order (to identify which covariate this is) - short id = BitSetUtils.shortFrom(idbs); // covert the id bitset into a short - Covariate covariate = optionalCovariates.get(id).covariate; // get the corresponding optional covariate object - objectKeys.add(covariate.keyFromBitSet(covBitSet)); // add the optional covariate to the key set - objectKeys.add(covariate.getClass().getSimpleName().split("Covariate")[0]); // add the covariate name using the id - } - objectKeys.add(eventFromBitSet(key)); // add the event type object to the key set - - return objectKeys; - } - - public List getRequiredCovariates() { - ArrayList list = new ArrayList(requiredCovariates.size()); - for (RequiredCovariateInfo info : requiredCovariates) - list.add(info.covariate); - return list; - } - - public List getOptionalCovariates() { - ArrayList list = new ArrayList(optionalCovariates.size()); - for (OptionalCovariateInfo info : optionalCovariates) - list.add(info.covariate); - return list; - } - - /** - * Translates a masked bitset into a bitset starting at 0 - * - * @param key the masked out bitset - * @param n the number of bits to chop - * @return a translated bitset starting at 0 for the covariate machinery to decode - */ - private BitSet chopNBitsFrom(BitSet key, int n) { - BitSet choppedKey = new BitSet(); - for (int i = key.nextSetBit(0); i >= 0; i = key.nextSetBit(i + 1)) - choppedKey.set(i - n); // Set every bit translocated to the beginning of the BitSet - return choppedKey; - } - - /** - * Creates a mask for the requested covariate to extract the relevant bitset from a combined bitset key - * - * @param leadingBits the index of the covariate in the ordered covariate list - * @param nBits the number of bits needed by the Covariate to represent its values in BitSet form - * @return the bitset relevant to the covariate - */ - - private BitSet genericMask(int leadingBits, int nBits) { - BitSet mask = new BitSet(leadingBits + nBits); - mask.set(leadingBits, leadingBits + nBits); - return mask; - } - - /** - * Decodes the event type (enum) from the full bitset key - * - * @param fullKey the full key of all covariates + event type - * @return the decoded event type. - */ - private EventType eventFromBitSet(BitSet fullKey) { - BitSet eventKey = new BitSet(); - int firstBitIndex = nRequiredBits + nOptionalBits + nOptionalIDBits; - for (int i = fullKey.nextSetBit(firstBitIndex); i >= 0; i = fullKey.nextSetBit(i + 1)) - eventKey.set(i - firstBitIndex); - return EventType.eventFrom(BitSetUtils.shortFrom(eventKey)); - } - - private BitSet bitSetFromEvent(EventType eventType) { - return BitSetUtils.bitSetFrom(eventType.index); - } - - private int bitsInEventType() { - return BitSetUtils.numberOfBitsToRepresent(EventType.values().length); - } - - private void addBitSetToKeyAtLocation(BitSet key, BitSet bitSet, int location) { - for (int j = bitSet.nextSetBit(0); j >= 0; j = bitSet.nextSetBit(j + 1)) - key.set(j + location); // translate the bits set in the key to their corresponding position in the full key - } - - private BitSet extractBitSetFromKey (BitSet key, BitSet mask, int leadingBits) { - BitSet bitSet = (BitSet) key.clone(); - bitSet.and(mask); - return chopNBitsFrom(bitSet, leadingBits); - } - - @Override - public boolean equals(Object o) { - if (!(o instanceof BQSRKeyManager)) - return false; - - BQSRKeyManager other = (BQSRKeyManager) o; - if (this == other) - return true; - - if (requiredCovariates.size() != other.requiredCovariates.size() || optionalCovariates.size() != other.optionalCovariates.size()) - return false; - - Iterator otherRequiredIterator = other.requiredCovariates.iterator(); - for (RequiredCovariateInfo thisInfo: requiredCovariates) { - RequiredCovariateInfo otherInfo = otherRequiredIterator.next(); - - String thisName = thisInfo.covariate.getClass().getSimpleName(); - String otherName = otherInfo.covariate.getClass().getSimpleName(); - if (!thisName.equals(otherName)) - return false; - } - - Iterator otherOptionalIterator = other.optionalCovariates.iterator(); - for (OptionalCovariateInfo thisInfo : optionalCovariates) { - OptionalCovariateInfo otherInfo = otherOptionalIterator.next(); - String thisName = thisInfo.covariate.getClass().getSimpleName(); - String otherName = otherInfo.covariate.getClass().getSimpleName(); - if (!thisName.equals(otherName)) - return false; - } - - return true; - } - - - /** - * Aggregate information for each Covariate - */ - class RequiredCovariateInfo { - public final int bitsBefore; // number of bits before this covariate in the combined bitset key - public final BitSet mask; // the mask to pull out this covariate from the combined bitset key ( a mask made from bitsBefore and nBits ) - public final Covariate covariate; // this allows reverse lookup of the Covariates in order - - RequiredCovariateInfo(int bitsBefore, BitSet mask, Covariate covariate) { - this.bitsBefore = bitsBefore; - this.mask = mask; - this.covariate = covariate; - } - } - - class OptionalCovariateInfo { - public final BitSet covariateID; // cache the covariate ID - public final Covariate covariate; - - OptionalCovariateInfo(BitSet covariateID, Covariate covariate) { - this.covariateID = covariateID; - this.covariate = covariate; - } - } - -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BaseRecalibrator.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BaseRecalibrator.java new file mode 100755 index 000000000..0b1f2c478 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BaseRecalibrator.java @@ -0,0 +1,316 @@ +/* + * Copyright (c) 2010 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.bqsr; + +import net.sf.samtools.SAMFileHeader; +import org.broadinstitute.sting.commandline.ArgumentCollection; +import org.broadinstitute.sting.gatk.contexts.AlignmentContext; +import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.filters.MappingQualityUnavailableFilter; +import org.broadinstitute.sting.gatk.filters.MappingQualityZeroFilter; +import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; +import org.broadinstitute.sting.gatk.walkers.*; +import org.broadinstitute.sting.utils.baq.BAQ; +import org.broadinstitute.sting.utils.classloader.GATKLiteUtils; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.recalibration.RecalibrationTables; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.sam.ReadUtils; + +import java.io.File; +import java.io.FileNotFoundException; +import java.io.PrintStream; +import java.lang.reflect.Constructor; +import java.util.ArrayList; + +/** + * First pass of the base quality score recalibration -- Generates recalibration table based on various user-specified covariates (such as reported quality score, cycle, and dinucleotide). + * + *

+ * This walker is designed to work as the first pass in a two-pass processing step. It does a by-locus traversal operating + * only at sites that are not in dbSNP. We assume that all reference mismatches we see are therefore errors and indicative + * of poor base quality. This walker generates tables based on various user-specified covariates (such as read group, + * reported quality score, cycle, and dinucleotide). Since there is a large amount of data one can then calculate an empirical + * probability of error given the particular covariates seen at this site, where p(error) = num mismatches / num observations. + * The output file is a CSV list of (the several covariate values, num observations, num mismatches, empirical quality score). + *

+ * Note: ReadGroupCovariate and QualityScoreCovariate are required covariates and will be added for the user regardless of whether or not they were specified. + * + *

+ * See the GATK wiki for a tutorial and example recalibration accuracy plots. + * http://www.broadinstitute.org/gsa/wiki/index.php/Base_quality_score_recalibration + * + *

Input

+ *

+ * The input read data whose base quality scores need to be assessed. + *

+ * A database of known polymorphic sites to skip over. + *

+ * + *

Output

+ *

+ * A GATK Report file with many tables: + *

    + *
  1. The list of arguments
  2. + *
  3. The quantized qualities table
  4. + *
  5. The recalibration table by read group
  6. + *
  7. The recalibration table by quality score
  8. + *
  9. The recalibration table for all the optional covariates
  10. + *
+ * + * The GATK Report is intended to be easy to read by humans or computers. Check out the documentation of the GATKReport to learn how to manipulate this table. + *

+ * + *

Examples

+ *
+ * java -Xmx4g -jar GenomeAnalysisTK.jar \
+ *   -T BaseQualityScoreRecalibrator \
+ *   -I my_reads.bam \
+ *   -R resources/Homo_sapiens_assembly18.fasta \
+ *   -knownSites bundle/hg18/dbsnp_132.hg18.vcf \
+ *   -knownSites another/optional/setOfSitesToMask.vcf \
+ *   -o recal_data.grp
+ * 
+ */ + +@BAQMode(ApplicationTime = BAQ.ApplicationTime.FORBIDDEN) +@By(DataSource.READS) + +@ReadFilters({MappingQualityZeroFilter.class, MappingQualityUnavailableFilter.class}) // only look at covered loci, not every loci of the reference file +@Requires({DataSource.READS, DataSource.REFERENCE, DataSource.REFERENCE_BASES}) // filter out all reads with zero or unavailable mapping quality +@PartitionBy(PartitionType.LOCUS) // this walker requires both -I input.bam and -R reference.fasta + +public class BaseRecalibrator extends LocusWalker implements TreeReducible { + @ArgumentCollection + private final RecalibrationArgumentCollection RAC = new RecalibrationArgumentCollection(); // all the command line arguments for BQSR and it's covariates + + private QuantizationInfo quantizationInfo; // an object that keeps track of the information necessary for quality score quantization + + private RecalibrationTables recalibrationTables; + + private Covariate[] requestedCovariates; // list to hold the all the covariate objects that were requested (required + standard + experimental) + + private RecalibrationEngine recalibrationEngine; + + private int minimumQToUse; + + protected static final String SKIP_RECORD_ATTRIBUTE = "SKIP"; // used to label reads that should be skipped. + protected static final String SEEN_ATTRIBUTE = "SEEN"; // used to label reads as processed. + protected static final String COVARS_ATTRIBUTE = "COVARS"; // used to store covariates array as a temporary attribute inside GATKSAMRecord.\ + + private static final String NO_DBSNP_EXCEPTION = "This calculation is critically dependent on being able to skip over known variant sites. Please provide a VCF file containing known sites of genetic variation."; + + + /** + * Parse the -cov arguments and create a list of covariates to be used here + * Based on the covariates' estimates for initial capacity allocate the data hashmap + */ + public void initialize() { + + // check for unsupported access + if (getToolkit().isGATKLite() && !getToolkit().getArguments().disableIndelQuals) + throw new UserException.NotSupportedInGATKLite("base insertion/deletion recalibration is not supported, please use the --disable_indel_quals argument"); + + if (RAC.FORCE_PLATFORM != null) + RAC.DEFAULT_PLATFORM = RAC.FORCE_PLATFORM; + + if (RAC.knownSites.isEmpty() && !RAC.RUN_WITHOUT_DBSNP) // Warn the user if no dbSNP file or other variant mask was specified + throw new UserException.CommandLineException(NO_DBSNP_EXCEPTION); + + if (RAC.LIST_ONLY) { + RecalDataManager.listAvailableCovariates(logger); + System.exit(0); + } + RAC.recalibrationReport = getToolkit().getArguments().BQSR_RECAL_FILE; // if we have a recalibration file, record it so it goes on the report table + + Pair, ArrayList> covariates = RecalDataManager.initializeCovariates(RAC); // initialize the required and optional covariates + ArrayList requiredCovariates = covariates.getFirst(); + ArrayList optionalCovariates = covariates.getSecond(); + + requestedCovariates = new Covariate[requiredCovariates.size() + optionalCovariates.size()]; + int covariateIndex = 0; + for (final Covariate covariate : requiredCovariates) + requestedCovariates[covariateIndex++] = covariate; + for (final Covariate covariate : optionalCovariates) + requestedCovariates[covariateIndex++] = covariate; + + logger.info("The covariates being used here: "); + for (Covariate cov : requestedCovariates) { // list all the covariates being used + logger.info("\t" + cov.getClass().getSimpleName()); + cov.initialize(RAC); // initialize any covariate member variables using the shared argument collection + } + + int numReadGroups = 0; + for ( final SAMFileHeader header : getToolkit().getSAMFileHeaders() ) + numReadGroups += header.getReadGroups().size(); + recalibrationTables = new RecalibrationTables(requestedCovariates, numReadGroups); + + recalibrationEngine = initializeRecalibrationEngine(); + recalibrationEngine.initialize(requestedCovariates, recalibrationTables); + + minimumQToUse = getToolkit().getArguments().PRESERVE_QSCORES_LESS_THAN; + } + + private RecalibrationEngine initializeRecalibrationEngine() { + + final Class recalibrationEngineClass = GATKLiteUtils.getProtectedClassIfAvailable(RecalibrationEngine.class); + try { + Constructor constructor = recalibrationEngineClass.getDeclaredConstructor((Class[])null); + constructor.setAccessible(true); + return (RecalibrationEngine)constructor.newInstance(); + } + catch (Exception e) { + throw new ReviewedStingException("Unable to create RecalibrationEngine class instance " + recalibrationEngineClass.getSimpleName()); + } + } + + private boolean readHasBeenSkipped(GATKSAMRecord read) { + return read.containsTemporaryAttribute(SKIP_RECORD_ATTRIBUTE); + } + + private boolean isLowQualityBase(GATKSAMRecord read, int offset) { + return read.getBaseQualities()[offset] < minimumQToUse; + } + + private boolean readNotSeen(GATKSAMRecord read) { + return !read.containsTemporaryAttribute(SEEN_ATTRIBUTE); + } + + /** + * For each read at this locus get the various covariate values and increment that location in the map based on + * whether or not the base matches the reference at this particular location + * + * @param tracker the reference metadata tracker + * @param ref the reference context + * @param context the alignment context + * @return returns 1, but this value isn't used in the reduce step + */ + public Long map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { + long countedSites = 0L; + if (tracker.getValues(RAC.knownSites).size() == 0) { // Only analyze sites not present in the provided known sites + for (final PileupElement p : context.getBasePileup()) { + final GATKSAMRecord read = p.getRead(); + final int offset = p.getOffset(); + + if (readHasBeenSkipped(read) || isLowQualityBase(read, offset)) // This read has been marked to be skipped or base is low quality (we don't recalibrate low quality bases) + continue; + + if (readNotSeen(read)) { + read.setTemporaryAttribute(SEEN_ATTRIBUTE, true); + RecalDataManager.parsePlatformForRead(read, RAC); + if (RecalDataManager.isColorSpaceConsistent(RAC.SOLID_NOCALL_STRATEGY, read)) { + read.setTemporaryAttribute(SKIP_RECORD_ATTRIBUTE, true); + continue; + } + read.setTemporaryAttribute(COVARS_ATTRIBUTE, RecalDataManager.computeCovariates(read, requestedCovariates)); + } + + if (!ReadUtils.isSOLiDRead(read) || // SOLID bams have inserted the reference base into the read if the color space in inconsistent with the read base so skip it + RAC.SOLID_RECAL_MODE == RecalDataManager.SOLID_RECAL_MODE.DO_NOTHING || + RecalDataManager.isColorSpaceConsistent(read, offset)) + recalibrationEngine.updateDataForPileupElement(p, ref.getBase()); // This base finally passed all the checks for a good base, so add it to the big data hashmap + } + countedSites++; + } + + return countedSites; + } + + /** + * Initialize the reduce step by creating a PrintStream from the filename specified as an argument to the walker. + * + * @return returns A PrintStream created from the -recalFile filename argument specified to the walker + */ + public Long reduceInit() { + return 0L; + } + + /** + * The Reduce method doesn't do anything for this walker. + * + * @param mapped Result of the map. This value is immediately ignored. + * @param sum The summing CountedData used to output the CSV data + * @return returns The sum used to output the CSV data + */ + public Long reduce(Long mapped, Long sum) { + sum += mapped; + return sum; + } + + public Long treeReduce(Long sum1, Long sum2) { + sum1 += sum2; + return sum1; + } + + @Override + public void onTraversalDone(Long result) { + logger.info("Calculating quantized quality scores..."); + quantizeQualityScores(); + if (!RAC.NO_PLOTS) { + logger.info("Generating recalibration plots..."); + generatePlots(); + } + logger.info("Writing recalibration report..."); + generateReport(); + logger.info("...done!"); + logger.info("Processed: " + result + " sites"); + } + + private void generatePlots() { + File recalFile = getToolkit().getArguments().BQSR_RECAL_FILE; + if (recalFile != null) { + RecalibrationReport report = new RecalibrationReport(recalFile); + RecalDataManager.generateRecalibrationPlot(RAC.RECAL_FILE, report.getRecalibrationTables(), recalibrationTables, requestedCovariates, RAC.KEEP_INTERMEDIATE_FILES); + } + else + RecalDataManager.generateRecalibrationPlot(RAC.RECAL_FILE, recalibrationTables, requestedCovariates, RAC.KEEP_INTERMEDIATE_FILES); + } + + + /** + * go through the quality score table and use the # observations and the empirical quality score + * to build a quality score histogram for quantization. Then use the QuantizeQual algorithm to + * generate a quantization map (recalibrated_qual -> quantized_qual) + */ + private void quantizeQualityScores() { + quantizationInfo = new QuantizationInfo(recalibrationTables, RAC.QUANTIZING_LEVELS); + } + + private void generateReport() { + PrintStream output; + try { + output = new PrintStream(RAC.RECAL_FILE); + } catch (FileNotFoundException e) { + throw new UserException.CouldNotCreateOutputFile(RAC.RECAL_FILE, "could not be created"); + } + + RecalDataManager.outputRecalibrationReport(RAC, quantizationInfo, recalibrationTables, requestedCovariates, output); + } +} + diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BinaryTagCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BinaryTagCovariate.java new file mode 100644 index 000000000..a89586c2c --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BinaryTagCovariate.java @@ -0,0 +1,61 @@ +package org.broadinstitute.sting.gatk.walkers.bqsr; + +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; + +/** + * Binary covariate allows BQSR to recalibrate based on a binary covariate in the BAM file. This covariate should assume values of 1 and 0. + * + * @author Mauricio Carneiro + * @since 7/6/12 + */ +public class BinaryTagCovariate implements ExperimentalCovariate { + + private String tag; + + @Override + public void initialize(RecalibrationArgumentCollection RAC) { + tag = RAC.BINARY_TAG_NAME; + } + + @Override + public void recordValues(GATKSAMRecord read, ReadCovariates values) { + final Object tagObject = read.getAttribute(tag); + + byte[] binaryTag; + if (tagObject instanceof byte[]) + binaryTag = (byte[]) tagObject; + else if (tagObject instanceof String) { + int readLength = ((String) tagObject).length(); + binaryTag = new byte[readLength]; + for (int i = 0; i mismatchKeys = new ArrayList(200); + private final ArrayList indelKeys = new ArrayList(200); + + // the maximum context size (number of bases) permitted; we need to keep the leftmost base free so that values are + // not negative and we reserve 4 more bits to represent the length of the context; it takes 2 bits to encode one base. + static final private int MAX_DNA_CONTEXT = 13; private byte LOW_QUAL_TAIL; // Initialize any member variables using the command-line arguments passed to the walkers @Override public void initialize(final RecalibrationArgumentCollection RAC) { mismatchesContextSize = RAC.MISMATCHES_CONTEXT_SIZE; - insertionsContextSize = RAC.INSERTIONS_CONTEXT_SIZE; - deletionsContextSize = RAC.DELETIONS_CONTEXT_SIZE; + indelsContextSize = RAC.INDELS_CONTEXT_SIZE; + if (mismatchesContextSize > MAX_DNA_CONTEXT) + throw new UserException.BadArgumentValue("mismatches_context_size", String.format("context size cannot be bigger than %d, but was %d", MAX_DNA_CONTEXT, mismatchesContextSize)); + if (indelsContextSize > MAX_DNA_CONTEXT) + throw new UserException.BadArgumentValue("indels_context_size", String.format("context size cannot be bigger than %d, but was %d", MAX_DNA_CONTEXT, indelsContextSize)); LOW_QUAL_TAIL = RAC.LOW_QUAL_TAIL; - if (mismatchesContextSize <= 0 || insertionsContextSize <= 0 || deletionsContextSize <= 0) - throw new UserException(String.format("Context Size must be positive, if you don't want to use the context covariate, just turn it off instead. Mismatches: %d Insertions: %d Deletions:%d", mismatchesContextSize, insertionsContextSize, deletionsContextSize)); + if (mismatchesContextSize <= 0 || indelsContextSize <= 0) + throw new UserException(String.format("Context size must be positive, if you don't want to use the context covariate, just turn it off instead. Mismatches: %d Indels: %d", mismatchesContextSize, indelsContextSize)); + mismatchesKeyMask = createMask(mismatchesContextSize); + indelsKeyMask = createMask(indelsContextSize); } @Override - public CovariateValues getValues(GATKSAMRecord read) { - int l = read.getReadLength(); - BitSet[] mismatches = new BitSet[l]; - BitSet[] insertions = new BitSet[l]; - BitSet[] deletions = new BitSet[l]; + public void recordValues(final GATKSAMRecord read, final ReadCovariates values) { - read = ReadClipper.clipLowQualEnds(read, LOW_QUAL_TAIL, ClippingRepresentation.WRITE_NS); // Write N's over the low quality tail of the reads to avoid adding them into the context + // store the original bases and then write Ns over low quality ones + final byte[] originalBases = read.getReadBases().clone(); + final GATKSAMRecord clippedRead = ReadClipper.clipLowQualEnds(read, LOW_QUAL_TAIL, ClippingRepresentation.WRITE_NS); // Write N's over the low quality tail of the reads to avoid adding them into the context - final boolean negativeStrand = read.getReadNegativeStrandFlag(); - byte[] bases = read.getReadBases(); + final boolean negativeStrand = clippedRead.getReadNegativeStrandFlag(); + byte[] bases = clippedRead.getReadBases(); if (negativeStrand) bases = BaseUtils.simpleReverseComplement(bases); - for (int i = 0; i < read.getReadLength(); i++) { - mismatches[i] = contextWith(bases, i, mismatchesContextSize); - insertions[i] = contextWith(bases, i, insertionsContextSize); - deletions[i] = contextWith(bases, i, deletionsContextSize); + mismatchKeys.clear(); + indelKeys.clear(); + contextWith(bases, mismatchesContextSize, mismatchKeys, mismatchesKeyMask); + contextWith(bases, indelsContextSize, indelKeys, indelsKeyMask); + + final int readLength = bases.length; + for (int i = 0; i < readLength; i++) { + final int indelKey = indelKeys.get(i); + values.addCovariate(mismatchKeys.get(i), indelKey, indelKey, (negativeStrand ? readLength - i - 1 : i)); } - if (negativeStrand) { - reverse(mismatches); - reverse(insertions); - reverse(deletions); - } - return new CovariateValues(mismatches, insertions, deletions); + // put the original bases back in + read.setReadBases(originalBases); } // Used to get the covariate's value from input csv file during on-the-fly recalibration @@ -98,52 +113,147 @@ public class ContextCovariate implements StandardCovariate { } @Override - public String keyFromBitSet(BitSet key) { - if (key == null) // this can only happen in test routines because we do not propagate null keys to the csv file + public String formatKey(final int key) { + if (key == -1) // this can only happen in test routines because we do not propagate null keys to the csv file return null; - return BitSetUtils.dnaFrom(key); + return contextFromKey(key); } @Override - public BitSet bitSetFromKey(Object key) { - return BitSetUtils.bitSetFrom((String) key); + public int keyFromValue(final Object value) { + return keyFromContext((String) value); } - @Override - public int numberOfBits() { - return Long.bitCount(-1L); + private static int createMask(final int contextSize) { + int mask = 0; + // create 2*contextSize worth of bits + for (int i = 0; i < contextSize; i++) + mask = (mask << 2) | 3; + // shift 4 bits to mask out the bits used to encode the length + return mask << LENGTH_BITS; } /** * calculates the context of a base independent of the covariate mode (mismatch, insertion or deletion) * * @param bases the bases in the read to build the context from - * @param offset the position in the read to calculate the context for * @param contextSize context size to use building the context - * @return the bitSet representing the Context + * @param keys list to store the keys + * @param mask mask for pulling out just the context bits */ - private BitSet contextWith(byte[] bases, int offset, int contextSize) { - BitSet result = null; - if (offset - contextSize + 1 >= 0) { - String context = new String(Arrays.copyOfRange(bases, offset - contextSize + 1, offset + 1)); - if (!context.contains("N")) - result = BitSetUtils.bitSetFrom(context); + private static void contextWith(final byte[] bases, final int contextSize, final ArrayList keys, final int mask) { + + // the first contextSize-1 bases will not have enough previous context + for (int i = 1; i < contextSize && i <= bases.length; i++) + keys.add(-1); + + if (bases.length < contextSize) + return; + + final int newBaseOffset = 2 * (contextSize - 1) + LENGTH_BITS; + + // get (and add) the key for the context starting at the first base + int currentKey = keyFromContext(bases, 0, contextSize); + keys.add(currentKey); + + // if the first key was -1 then there was an N in the context; figure out how many more consecutive contexts it affects + int currentNPenalty = 0; + if (currentKey == -1) { + currentKey = 0; + currentNPenalty = contextSize - 1; + int offset = newBaseOffset; + while (bases[currentNPenalty] != 'N') { + final int baseIndex = BaseUtils.simpleBaseToBaseIndex(bases[currentNPenalty]); + currentKey |= (baseIndex << offset); + offset -= 2; + currentNPenalty--; + } } - return result; + + final int readLength = bases.length; + for (int currentIndex = contextSize; currentIndex < readLength; currentIndex++) { + final int baseIndex = BaseUtils.simpleBaseToBaseIndex(bases[currentIndex]); + if (baseIndex == -1) { // ignore non-ACGT bases + currentNPenalty = contextSize; + currentKey = 0; // reset the key + } else { + // push this base's contribution onto the key: shift everything 2 bits, mask out the non-context bits, and add the new base and the length in + currentKey = (currentKey >> 2) & mask; + currentKey |= (baseIndex << newBaseOffset); + currentKey |= contextSize; + } + + if (currentNPenalty == 0) { + keys.add(currentKey); + } else { + currentNPenalty--; + keys.add(-1); + } + } + } + + public static int keyFromContext(final String dna) { + return keyFromContext(dna.getBytes(), 0, dna.length()); } /** - * Reverses the given array in place. + * Creates a int representation of a given dna string. * - * @param array any array + * @param dna the dna sequence + * @param start the start position in the byte array (inclusive) + * @param end the end position in the array (exclusive) + * @return the key representing the dna sequence */ - private static void reverse(final Object[] array) { - final int arrayLength = array.length; - for (int l = 0, r = arrayLength - 1; l < r; l++, r--) { - final Object temp = array[l]; - array[l] = array[r]; - array[r] = temp; + private static int keyFromContext(final byte[] dna, final int start, final int end) { + + int key = end - start; + int bitOffset = LENGTH_BITS; + for (int i = start; i < end; i++) { + final int baseIndex = BaseUtils.simpleBaseToBaseIndex(dna[i]); + if (baseIndex == -1) // ignore non-ACGT bases + return -1; + key |= (baseIndex << bitOffset); + bitOffset += 2; } + return key; + } + + /** + * Converts a key into the dna string representation. + * + * @param key the key representing the dna sequence + * @return the dna sequence represented by the key + */ + public static String contextFromKey(final int key) { + if (key < 0) + throw new ReviewedStingException("dna conversion cannot handle negative numbers. Possible overflow?"); + + final int length = key & LENGTH_MASK; // the first bits represent the length (in bp) of the context + int mask = 48; // use the mask to pull out bases + int offset = LENGTH_BITS; + + StringBuilder dna = new StringBuilder(); + for (int i = 0; i < length; i++) { + final int baseIndex = (key & mask) >> offset; + dna.append((char)BaseUtils.baseIndexToSimpleBase(baseIndex)); + mask = mask << 2; // move the mask over to the next 2 bits + offset += 2; + } + + return dna.toString(); + } + + @Override + public int maximumKeyValue() { + // the maximum value is T (11 in binary) for each base in the context + int length = Math.max(mismatchesContextSize, indelsContextSize); // the length of the context + int key = length; + int bitOffset = LENGTH_BITS; + for (int i = 0; i DISCRETE_CYCLE_PLATFORMS = EnumSet.of(NGSPlatform.ILLUMINA, NGSPlatform.SOLID, NGSPlatform.PACBIO, NGSPlatform.COMPLETE_GENOMICS); - private final static EnumSet FLOW_CYCLE_PLATFORMS = EnumSet.of(NGSPlatform.LS454, NGSPlatform.ION_TORRENT); + + private static final int MAXIMUM_CYCLE_VALUE = 1000; + private static final int CUSHION_FOR_INDELS = 4; + private static String default_platform = null; + + private static final EnumSet DISCRETE_CYCLE_PLATFORMS = EnumSet.of(NGSPlatform.ILLUMINA, NGSPlatform.SOLID, NGSPlatform.PACBIO, NGSPlatform.COMPLETE_GENOMICS); + private static final EnumSet FLOW_CYCLE_PLATFORMS = EnumSet.of(NGSPlatform.LS454, NGSPlatform.ION_TORRENT); // Initialize any member variables using the command-line arguments passed to the walkers @Override public void initialize(final RecalibrationArgumentCollection RAC) { if (RAC.DEFAULT_PLATFORM != null && !NGSPlatform.isKnown(RAC.DEFAULT_PLATFORM)) throw new UserException.CommandLineException("The requested default platform (" + RAC.DEFAULT_PLATFORM + ") is not a recognized platform."); + + if (RAC.DEFAULT_PLATFORM != null) + default_platform = RAC.DEFAULT_PLATFORM; } // Used to pick out the covariate's value from attributes of the read @Override - public CovariateValues getValues(final GATKSAMRecord read) { - BitSet[] cycles = new BitSet[read.getReadLength()]; - final NGSPlatform ngsPlatform = read.getNGSPlatform(); + public void recordValues(final GATKSAMRecord read, final ReadCovariates values) { + final int readLength = read.getReadLength(); + final NGSPlatform ngsPlatform = default_platform == null ? read.getNGSPlatform() : NGSPlatform.fromReadGroupPL(default_platform); // Discrete cycle platforms if (DISCRETE_CYCLE_PLATFORMS.contains(ngsPlatform)) { - final short readOrderFactor = read.getReadPairedFlag() && read.getSecondOfPairFlag() ? (short) -1 : 1; - final short increment; - short cycle; + final int readOrderFactor = read.getReadPairedFlag() && read.getSecondOfPairFlag() ? -1 : 1; + final int increment; + int cycle; if (read.getReadNegativeStrandFlag()) { - cycle = (short) (read.getReadLength() * readOrderFactor); - increment = (short) (-1 * readOrderFactor); + cycle = readLength * readOrderFactor; + increment = -1 * readOrderFactor; } else { cycle = readOrderFactor; increment = readOrderFactor; } - final int CUSHION = 4; - final int MAX_CYCLE = read.getReadLength() - CUSHION - 1; - for (int i = 0; i < MAX_CYCLE; i++) { - cycles[i] = (iMAX_CYCLE) ? null : BitSetUtils.bitSetFrom(cycle); + final int MAX_CYCLE_FOR_INDELS = readLength - CUSHION_FOR_INDELS - 1; + for (int i = 0; i < readLength; i++) { + final int substitutionKey = keyFromCycle(cycle); + final int indelKey = (i < CUSHION_FOR_INDELS || i > MAX_CYCLE_FOR_INDELS) ? -1 : substitutionKey; + values.addCovariate(substitutionKey, indelKey, indelKey, i); cycle += increment; } } @@ -89,7 +96,6 @@ public class CycleCovariate implements StandardCovariate { // Flow cycle platforms else if (FLOW_CYCLE_PLATFORMS.contains(ngsPlatform)) { - final int readLength = read.getReadLength(); final byte[] bases = read.getReadBases(); // Differentiate between first and second of pair. @@ -100,7 +106,7 @@ public class CycleCovariate implements StandardCovariate { // the current sequential model would consider the effects independently instead of jointly. final boolean multiplyByNegative1 = read.getReadPairedFlag() && read.getSecondOfPairFlag(); - short cycle = multiplyByNegative1 ? (short) -1 : 1; // todo -- check if this is the right behavior for mate paired reads in flow cycle platforms. + int cycle = multiplyByNegative1 ? -1 : 1; // todo -- check if this is the right behavior for mate paired reads in flow cycle platforms. // BUGBUG: Consider looking at degradation of base quality scores in homopolymer runs to detect when the cycle incremented even though the nucleotide didn't change // For example, AAAAAAA was probably read in two flow cycles but here we count it as one @@ -108,19 +114,23 @@ public class CycleCovariate implements StandardCovariate { int iii = 0; while (iii < readLength) { while (iii < readLength && bases[iii] == (byte) 'T') { - cycles[iii] = BitSetUtils.bitSetFrom(cycle); + final int key = keyFromCycle(cycle); + values.addCovariate(key, key, key, iii); iii++; } while (iii < readLength && bases[iii] == (byte) 'A') { - cycles[iii] = BitSetUtils.bitSetFrom(cycle); + final int key = keyFromCycle(cycle); + values.addCovariate(key, key, key, iii); iii++; } while (iii < readLength && bases[iii] == (byte) 'C') { - cycles[iii] = BitSetUtils.bitSetFrom(cycle); + final int key = keyFromCycle(cycle); + values.addCovariate(key, key, key, iii); iii++; } while (iii < readLength && bases[iii] == (byte) 'G') { - cycles[iii] = BitSetUtils.bitSetFrom(cycle); + final int key = keyFromCycle(cycle); + values.addCovariate(key, key, key, iii); iii++; } if (iii < readLength) { @@ -130,7 +140,8 @@ public class CycleCovariate implements StandardCovariate { cycle++; } if (iii < readLength && !BaseUtils.isRegularBase(bases[iii])) { - cycles[iii] = BitSetUtils.bitSetFrom(cycle); + final int key = keyFromCycle(cycle); + values.addCovariate(key, key, key, iii); iii++; } @@ -140,19 +151,23 @@ public class CycleCovariate implements StandardCovariate { int iii = readLength - 1; while (iii >= 0) { while (iii >= 0 && bases[iii] == (byte) 'T') { - cycles[iii] = BitSetUtils.bitSetFrom(cycle); + final int key = keyFromCycle(cycle); + values.addCovariate(key, key, key, iii); iii--; } while (iii >= 0 && bases[iii] == (byte) 'A') { - cycles[iii] = BitSetUtils.bitSetFrom(cycle); + final int key = keyFromCycle(cycle); + values.addCovariate(key, key, key, iii); iii--; } while (iii >= 0 && bases[iii] == (byte) 'C') { - cycles[iii] = BitSetUtils.bitSetFrom(cycle); + final int key = keyFromCycle(cycle); + values.addCovariate(key, key, key, iii); iii--; } while (iii >= 0 && bases[iii] == (byte) 'G') { - cycles[iii] = BitSetUtils.bitSetFrom(cycle); + final int key = keyFromCycle(cycle); + values.addCovariate(key, key, key, iii); iii--; } if (iii >= 0) { @@ -162,7 +177,8 @@ public class CycleCovariate implements StandardCovariate { cycle++; } if (iii >= 0 && !BaseUtils.isRegularBase(bases[iii])) { - cycles[iii] = BitSetUtils.bitSetFrom(cycle); + final int key = keyFromCycle(cycle); + values.addCovariate(key, key, key, iii); iii--; } } @@ -173,28 +189,38 @@ public class CycleCovariate implements StandardCovariate { else { throw new UserException("The platform (" + read.getReadGroup().getPlatform() + ") associated with read group " + read.getReadGroup() + " is not a recognized platform. Implemented options are e.g. illumina, 454, and solid"); } - - return new CovariateValues(cycles, cycles, cycles); } // Used to get the covariate's value from input csv file during on-the-fly recalibration @Override public final Object getValue(final String str) { - return Short.parseShort(str); + return Integer.parseInt(str); } @Override - public String keyFromBitSet(BitSet key) { - return String.format("%d", BitSetUtils.shortFrom(key)); + public String formatKey(final int key) { + int cycle = key >> 1; // shift so we can remove the "sign" bit + if ( (key & 1) != 0 ) // is the last bit set? + cycle *= -1; // then the cycle is negative + return String.format("%d", cycle); } @Override - public BitSet bitSetFromKey(Object key) { - return (key instanceof String) ? BitSetUtils.bitSetFrom(Short.parseShort((String) key)) : BitSetUtils.bitSetFrom((Short) key); + public int keyFromValue(final Object value) { + return (value instanceof String) ? keyFromCycle(Integer.parseInt((String) value)) : keyFromCycle((Integer) value); } @Override - public int numberOfBits() { - return BitSetUtils.numberOfBitsToRepresent(2 * Short.MAX_VALUE); // positive and negative + public int maximumKeyValue() { + return (MAXIMUM_CYCLE_VALUE << 1) + 1; + } + + private static int keyFromCycle(final int cycle) { + // no negative values because values must fit into the first few bits of the long + int result = Math.abs(cycle); + result = result << 1; // shift so we can add the "sign" bit + if ( cycle < 0 ) + result++; // negative cycles get the lower-most bit set + return result; } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/Datum.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/Datum.java index 779500512..274b0f8bb 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/Datum.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/Datum.java @@ -71,6 +71,11 @@ public class Datum { numMismatches += incMismatches; } + synchronized void increment(final boolean isError) { + numObservations++; + numMismatches += isError ? 1:0; + } + //--------------------------------------------------------------------------------------------------------------- // // methods to derive empirical quality score @@ -80,7 +85,7 @@ public class Datum { double empiricalQualDouble() { final double doubleMismatches = (double) (numMismatches + SMOOTHING_CONSTANT); final double doubleObservations = (double) (numObservations + SMOOTHING_CONSTANT); - double empiricalQual = -10 * Math.log10(doubleMismatches / doubleObservations); + final double empiricalQual = -10 * Math.log10(doubleMismatches / doubleObservations); return Math.min(empiricalQual, (double) QualityUtils.MAX_RECALIBRATED_Q_SCORE); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/EventType.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/EventType.java index 6d004edb1..2650f0f8d 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/EventType.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/EventType.java @@ -3,16 +3,18 @@ package org.broadinstitute.sting.gatk.walkers.bqsr; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; public enum EventType { - BASE_SUBSTITUTION(0, "M"), - BASE_INSERTION(1, "I"), - BASE_DELETION(2, "D"); + BASE_SUBSTITUTION(0, "M", "Base Substitution"), + BASE_INSERTION(1, "I", "Base Insertion"), + BASE_DELETION(2, "D", "Base Deletion"); public final int index; private final String representation; + private final String longRepresentation; - private EventType(int index, String representation) { + private EventType(int index, String representation, String longRepresentation) { this.index = index; this.representation = representation; + this.longRepresentation = longRepresentation; } public static EventType eventFrom(int index) { @@ -40,4 +42,8 @@ public enum EventType { public String toString() { return representation; } + + public String prettyPrint() { + return longRepresentation; + } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/QualityScoreCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/QualityScoreCovariate.java index 4100eb8bb..dd7060ff8 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/QualityScoreCovariate.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/QualityScoreCovariate.java @@ -1,11 +1,8 @@ package org.broadinstitute.sting.gatk.walkers.bqsr; -import org.broadinstitute.sting.utils.BitSetUtils; import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; -import java.util.BitSet; - /* * Copyright (c) 2009 The Broad Institute * @@ -43,28 +40,17 @@ public class QualityScoreCovariate implements RequiredCovariate { // Initialize any member variables using the command-line arguments passed to the walkers @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - } + public void initialize(final RecalibrationArgumentCollection RAC) {} @Override - public CovariateValues getValues(final GATKSAMRecord read) { - int readLength = read.getReadLength(); - - BitSet[] mismatches = new BitSet[readLength]; - BitSet[] insertions = new BitSet[readLength]; - BitSet[] deletions = new BitSet[readLength]; - - byte[] baseQualities = read.getBaseQualities(); - byte[] baseInsertionQualities = read.getBaseInsertionQualities(); - byte[] baseDeletionQualities = read.getBaseDeletionQualities(); + public void recordValues(final GATKSAMRecord read, final ReadCovariates values) { + final byte[] baseQualities = read.getBaseQualities(); + final byte[] baseInsertionQualities = read.getBaseInsertionQualities(); + final byte[] baseDeletionQualities = read.getBaseDeletionQualities(); for (int i = 0; i < baseQualities.length; i++) { - mismatches[i] = BitSetUtils.bitSetFrom(baseQualities[i]); - insertions[i] = BitSetUtils.bitSetFrom(baseInsertionQualities[i]); - deletions[i] = BitSetUtils.bitSetFrom(baseDeletionQualities[i]); + values.addCovariate((int)baseQualities[i], (int)baseInsertionQualities[i], (int)baseDeletionQualities[i], i); } - - return new CovariateValues(mismatches, insertions, deletions); } // Used to get the covariate's value from input csv file during on-the-fly recalibration @@ -74,17 +60,17 @@ public class QualityScoreCovariate implements RequiredCovariate { } @Override - public String keyFromBitSet(BitSet key) { - return String.format("%d", BitSetUtils.longFrom(key)); + public String formatKey(final int key) { + return String.format("%d", key); } @Override - public BitSet bitSetFromKey(Object key) { - return (key instanceof String) ? BitSetUtils.bitSetFrom(Byte.parseByte((String) key)) : BitSetUtils.bitSetFrom((Byte) key); + public int keyFromValue(final Object value) { + return (value instanceof String) ? (int)Byte.parseByte((String) value) : (int)(Byte) value; } @Override - public int numberOfBits() { - return BitSetUtils.numberOfBitsToRepresent(QualityUtils.MAX_QUAL_SCORE); + public int maximumKeyValue() { + return QualityUtils.MAX_QUAL_SCORE; } -} +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/QuantizationInfo.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/QuantizationInfo.java index 9c91a1874..fb3aef949 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/QuantizationInfo.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/QuantizationInfo.java @@ -1,14 +1,14 @@ package org.broadinstitute.sting.gatk.walkers.bqsr; import org.broadinstitute.sting.gatk.report.GATKReportTable; +import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.QualityUtils; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.collections.NestedIntegerArray; import org.broadinstitute.sting.utils.recalibration.QualQuantizer; +import org.broadinstitute.sting.utils.recalibration.RecalibrationTables; import java.util.Arrays; -import java.util.BitSet; import java.util.List; -import java.util.Map; /** * Class that encapsulates the information necessary for quality score quantization for BQSR @@ -31,25 +31,17 @@ public class QuantizationInfo { this(quantizedQuals, empiricalQualCounts, calculateQuantizationLevels(quantizedQuals)); } - public QuantizationInfo(Map> keysAndTablesMap, int quantizationLevels) { + public QuantizationInfo(final RecalibrationTables recalibrationTables, final int quantizationLevels) { final Long [] qualHistogram = new Long[QualityUtils.MAX_QUAL_SCORE+1]; // create a histogram with the empirical quality distribution for (int i = 0; i < qualHistogram.length; i++) qualHistogram[i] = 0L; - Map qualTable = null; // look for the quality score table - for (Map.Entry> entry : keysAndTablesMap.entrySet()) { - BQSRKeyManager keyManager = entry.getKey(); - if (keyManager.getRequiredCovariates().size() == 2) // it should be the only one with 2 required covaraites - qualTable = entry.getValue(); - } + final NestedIntegerArray qualTable = recalibrationTables.getTable(RecalibrationTables.TableType.QUALITY_SCORE_TABLE); // get the quality score table - if (qualTable == null) - throw new ReviewedStingException("Could not find QualityScore table."); - - for (RecalDatum datum : qualTable.values()) { - int empiricalQual = (int) Math.round(datum.getEmpiricalQuality()); // convert the empirical quality to an integer ( it is already capped by MAX_QUAL ) - long nObservations = datum.numObservations; - qualHistogram[empiricalQual] += nObservations; // add the number of observations for every key + for (final RecalDatum value : qualTable.getAllValues()) { + final RecalDatum datum = value; + final int empiricalQual = MathUtils.fastRound(datum.getEmpiricalQuality()); // convert the empirical quality to an integer ( it is already capped by MAX_QUAL ) + qualHistogram[empiricalQual] += datum.numObservations; // add the number of observations for every key } empiricalQualCounts = Arrays.asList(qualHistogram); // histogram with the number of observations of the empirical qualities quantizeQualityScores(quantizationLevels); @@ -78,12 +70,13 @@ public class QuantizationInfo { } public GATKReportTable generateReportTable() { - GATKReportTable quantizedTable = new GATKReportTable(RecalDataManager.QUANTIZED_REPORT_TABLE_TITLE, "Quality quantization map"); - quantizedTable.addPrimaryKey(RecalDataManager.QUALITY_SCORE_COLUMN_NAME); - quantizedTable.addColumn(RecalDataManager.QUANTIZED_COUNT_COLUMN_NAME, 0L); - quantizedTable.addColumn(RecalDataManager.QUANTIZED_VALUE_COLUMN_NAME, (byte) 0); + GATKReportTable quantizedTable = new GATKReportTable(RecalDataManager.QUANTIZED_REPORT_TABLE_TITLE, "Quality quantization map", 3); + quantizedTable.addColumn(RecalDataManager.QUALITY_SCORE_COLUMN_NAME); + quantizedTable.addColumn(RecalDataManager.QUANTIZED_COUNT_COLUMN_NAME); + quantizedTable.addColumn(RecalDataManager.QUANTIZED_VALUE_COLUMN_NAME); for (int qual = 0; qual <= QualityUtils.MAX_QUAL_SCORE; qual++) { + quantizedTable.set(qual, RecalDataManager.QUALITY_SCORE_COLUMN_NAME, qual); quantizedTable.set(qual, RecalDataManager.QUANTIZED_COUNT_COLUMN_NAME, empiricalQualCounts.get(qual)); quantizedTable.set(qual, RecalDataManager.QUANTIZED_VALUE_COLUMN_NAME, quantizedQuals.get(qual)); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadCovariates.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadCovariates.java index 74b759da5..5e907237d 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadCovariates.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadCovariates.java @@ -1,9 +1,5 @@ package org.broadinstitute.sting.gatk.walkers.bqsr; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; - -import java.util.BitSet; - /** * The object temporarily held by a read that describes all of it's covariates. * @@ -13,68 +9,56 @@ import java.util.BitSet; * @since 2/8/12 */ public class ReadCovariates { - private final BitSet[][] mismatchesKeySet; - private final BitSet[][] insertionsKeySet; - private final BitSet[][] deletionsKeySet; + private final int[][][] keys; - private int nextCovariateIndex; + private int currentCovariateIndex = 0; - public ReadCovariates(int readLength, int numberOfCovariates) { - this.mismatchesKeySet = new BitSet[readLength][numberOfCovariates]; - this.insertionsKeySet = new BitSet[readLength][numberOfCovariates]; - this.deletionsKeySet = new BitSet[readLength][numberOfCovariates]; - this.nextCovariateIndex = 0; + public ReadCovariates(final int readLength, final int numberOfCovariates) { + keys = new int[EventType.values().length][readLength][numberOfCovariates]; } - public void addCovariate(CovariateValues covariate) { - transposeCovariateValues(mismatchesKeySet, covariate.getMismatches()); - transposeCovariateValues(insertionsKeySet, covariate.getInsertions()); - transposeCovariateValues(deletionsKeySet, covariate.getDeletions()); - nextCovariateIndex++; + public void setCovariateIndex(final int index) { + currentCovariateIndex = index; } - public BitSet[] getKeySet(final int readPosition, final EventType errorModel) { - switch (errorModel) { - case BASE_SUBSTITUTION: - return getMismatchesKeySet(readPosition); - case BASE_INSERTION: - return getInsertionsKeySet(readPosition); - case BASE_DELETION: - return getDeletionsKeySet(readPosition); - default: - throw new ReviewedStingException("Unrecognized Base Recalibration type: " + errorModel); - } + public void addCovariate(final int mismatch, final int insertion, final int deletion, final int readOffset) { + keys[EventType.BASE_SUBSTITUTION.index][readOffset][currentCovariateIndex] = mismatch; + keys[EventType.BASE_INSERTION.index][readOffset][currentCovariateIndex] = insertion; + keys[EventType.BASE_DELETION.index][readOffset][currentCovariateIndex] = deletion; } - public BitSet[] getMismatchesKeySet(int readPosition) { - return mismatchesKeySet[readPosition]; + public int[] getKeySet(final int readPosition, final EventType errorModel) { + return keys[errorModel.index][readPosition]; } - public BitSet[] getInsertionsKeySet(int readPosition) { - return insertionsKeySet[readPosition]; + public int[][] getKeySet(final EventType errorModel) { + return keys[errorModel.index]; } - public BitSet[] getDeletionsKeySet(int readPosition) { - return deletionsKeySet[readPosition]; + public int[] getMismatchesKeySet(final int readPosition) { + return keys[EventType.BASE_SUBSTITUTION.index][readPosition]; } - private void transposeCovariateValues(BitSet[][] keySet, BitSet[] covariateValues) { - for (int i = 0; i < covariateValues.length; i++) - keySet[i][nextCovariateIndex] = covariateValues[i]; + public int[] getInsertionsKeySet(final int readPosition) { + return keys[EventType.BASE_INSERTION.index][readPosition]; + } + + public int[] getDeletionsKeySet(final int readPosition) { + return keys[EventType.BASE_DELETION.index][readPosition]; } /** * Testing routines */ - protected BitSet[][] getMismatchesKeySet() { - return mismatchesKeySet; + protected int[][] getMismatchesKeySet() { + return keys[EventType.BASE_SUBSTITUTION.index]; } - protected BitSet[][] getInsertionsKeySet() { - return insertionsKeySet; + protected int[][] getInsertionsKeySet() { + return keys[EventType.BASE_INSERTION.index]; } - protected BitSet[][] getDeletionsKeySet() { - return deletionsKeySet; + protected int[][] getDeletionsKeySet() { + return keys[EventType.BASE_DELETION.index]; } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadGroupCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadGroupCovariate.java index 579643f56..f04d27b7a 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadGroupCovariate.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadGroupCovariate.java @@ -1,11 +1,8 @@ package org.broadinstitute.sting.gatk.walkers.bqsr; -import org.broadinstitute.sting.utils.BitSetUtils; import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; -import java.util.Arrays; -import java.util.BitSet; import java.util.HashMap; /* @@ -43,23 +40,22 @@ import java.util.HashMap; public class ReadGroupCovariate implements RequiredCovariate { - private final HashMap readGroupLookupTable = new HashMap(); - private final HashMap readGroupReverseLookupTable = new HashMap(); - private short nextId = 0; + private final HashMap readGroupLookupTable = new HashMap(); + private final HashMap readGroupReverseLookupTable = new HashMap(); + private int nextId = 0; // Initialize any member variables using the command-line arguments passed to the walkers @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - } + public void initialize(final RecalibrationArgumentCollection RAC) {} @Override - public CovariateValues getValues(final GATKSAMRecord read) { - final int l = read.getReadLength(); + public void recordValues(final GATKSAMRecord read, final ReadCovariates values) { final String readGroupId = readGroupValueFromRG(read.getReadGroup()); - BitSet rg = bitSetForReadGroup(readGroupId); // All objects must output a BitSet, so we convert the "compressed" representation of the Read Group into a bitset - BitSet[] readGroups = new BitSet[l]; - Arrays.fill(readGroups, rg); - return new CovariateValues(readGroups, readGroups, readGroups); + final int key = keyForReadGroup(readGroupId); + + final int l = read.getReadLength(); + for (int i = 0; i < l; i++) + values.addCovariate(key, key, key, i); } @Override @@ -68,35 +64,28 @@ public class ReadGroupCovariate implements RequiredCovariate { } @Override - public String keyFromBitSet(BitSet key) { - return decodeReadGroup((short) BitSetUtils.longFrom(key)); + public String formatKey(final int key) { + return readGroupReverseLookupTable.get(key); } @Override - public BitSet bitSetFromKey(Object key) { - return bitSetForReadGroup((String) key); + public int keyFromValue(final Object value) { + return keyForReadGroup((String) value); } - @Override - public int numberOfBits() { - return BitSetUtils.numberOfBitsToRepresent(Short.MAX_VALUE); - } - - private String decodeReadGroup(final short id) { - return readGroupReverseLookupTable.get(id); - } - - private BitSet bitSetForReadGroup(String readGroupId) { - short shortId; - if (readGroupLookupTable.containsKey(readGroupId)) - shortId = readGroupLookupTable.get(readGroupId); - else { - shortId = nextId; + private int keyForReadGroup(final String readGroupId) { + if (!readGroupLookupTable.containsKey(readGroupId)) { readGroupLookupTable.put(readGroupId, nextId); readGroupReverseLookupTable.put(nextId, readGroupId); nextId++; - } - return BitSetUtils.bitSetFrom(shortId); + } + + return readGroupLookupTable.get(readGroupId); + } + + @Override + public int maximumKeyValue() { + return readGroupLookupTable.size() - 1; } /** @@ -105,8 +94,8 @@ public class ReadGroupCovariate implements RequiredCovariate { * @param rg the read group record * @return platform unit or readgroup id */ - private String readGroupValueFromRG(GATKSAMReadGroupRecord rg) { - String platformUnit = rg.getPlatformUnit(); + private String readGroupValueFromRG(final GATKSAMReadGroupRecord rg) { + final String platformUnit = rg.getPlatformUnit(); return platformUnit == null ? rg.getId() : platformUnit; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalDataManager.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalDataManager.java index 53e7c3f35..f40a62d53 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalDataManager.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalDataManager.java @@ -32,11 +32,14 @@ import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.R.RScriptExecutor; import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.classloader.PluginManager; +import org.broadinstitute.sting.utils.collections.NestedIntegerArray; +import org.broadinstitute.sting.utils.collections.NestedHashMap; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.DynamicClassResolutionException; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.io.Resource; +import org.broadinstitute.sting.utils.recalibration.RecalibrationTables; import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; @@ -82,6 +85,14 @@ public class RecalDataManager { private static final String SCRIPT_FILE = "BQSR.R"; + private static final Pair covariateValue = new Pair(RecalDataManager.COVARIATE_VALUE_COLUMN_NAME, "%s"); + private static final Pair covariateName = new Pair(RecalDataManager.COVARIATE_NAME_COLUMN_NAME, "%s"); + private static final Pair eventType = new Pair(RecalDataManager.EVENT_TYPE_COLUMN_NAME, "%s"); + private static final Pair empiricalQuality = new Pair(RecalDataManager.EMPIRICAL_QUALITY_COLUMN_NAME, "%.4f"); + private static final Pair estimatedQReported = new Pair(RecalDataManager.ESTIMATED_Q_REPORTED_COLUMN_NAME, "%.4f"); + private static final Pair nObservations = new Pair(RecalDataManager.NUMBER_OBSERVATIONS_COLUMN_NAME, "%d"); + private static final Pair nErrors = new Pair(RecalDataManager.NUMBER_ERRORS_COLUMN_NAME, "%d"); + public enum SOLID_RECAL_MODE { /** @@ -141,30 +152,6 @@ public class RecalDataManager { } } - - /** - * Initializes the recalibration table -> key manager map - * - * @param requiredCovariates list of required covariates (in order) - * @param optionalCovariates list of optional covariates (in order) - * @return a map with each key manager and it's corresponding recalibration table properly initialized - */ - public static LinkedHashMap> initializeTables(ArrayList requiredCovariates, ArrayList optionalCovariates) { - final LinkedHashMap> tablesAndKeysMap = new LinkedHashMap>(); - ArrayList requiredCovariatesToAdd = new ArrayList(requiredCovariates.size() + 1); // incrementally add the covariates to create the recal tables with 1, 2 and 3 covariates. - ArrayList optionalCovariatesToAdd = new ArrayList(); // initialize an empty array of optional covariates to create the first few tables - for (Covariate covariate : requiredCovariates) { - requiredCovariatesToAdd.add(covariate); - final Map recalTable = new HashMap(); // initializing a new recal table for each required covariate (cumulatively) - final BQSRKeyManager keyManager = new BQSRKeyManager(requiredCovariatesToAdd, optionalCovariatesToAdd); // initializing it's corresponding key manager - tablesAndKeysMap.put(keyManager, recalTable); // adding the pair table+key to the map - } - final Map recalTable = new HashMap(Short.MAX_VALUE); // initializing a new recal table to hold all optional covariates - final BQSRKeyManager keyManager = new BQSRKeyManager(requiredCovariates, optionalCovariates); // initializing it's corresponding key manager - tablesAndKeysMap.put(keyManager, recalTable); // adding the pair table+key to the map - return tablesAndKeysMap; - } - /** * Generates two lists : required covariates and optional covariates based on the user's requests. * @@ -181,9 +168,9 @@ public class RecalDataManager { final List> requiredClasses = new PluginManager(RequiredCovariate.class).getPlugins(); final List> standardClasses = new PluginManager(StandardCovariate.class).getPlugins(); - ArrayList requiredCovariates = addRequiredCovariatesToList(requiredClasses); // add the required covariates + final ArrayList requiredCovariates = addRequiredCovariatesToList(requiredClasses); // add the required covariates ArrayList optionalCovariates = new ArrayList(); - if (argumentCollection.USE_STANDARD_COVARIATES) + if (!argumentCollection.DO_NOT_USE_STANDARD_COVARIATES) optionalCovariates = addStandardCovariatesToList(standardClasses); // add the standard covariates if -standard was specified by the user if (argumentCollection.COVARIATES != null) { // parse the -cov arguments that were provided, skipping over the ones already specified @@ -193,7 +180,7 @@ public class RecalDataManager { if (requestedCovariateString.equalsIgnoreCase(covClass.getSimpleName())) { // -cov argument matches the class name for an implementing class foundClass = true; if (!requiredClasses.contains(covClass) && - (!argumentCollection.USE_STANDARD_COVARIATES || !standardClasses.contains(covClass))) { + (argumentCollection.DO_NOT_USE_STANDARD_COVARIATES || !standardClasses.contains(covClass))) { try { final Covariate covariate = covClass.newInstance(); // now that we've found a matching class, try to instantiate it optionalCovariates.add(covariate); @@ -223,90 +210,93 @@ public class RecalDataManager { logger.info(""); } - private static List generateReportTables(Map> keysAndTablesMap) { + private static List generateReportTables(final RecalibrationTables recalibrationTables, final Covariate[] requestedCovariates) { List result = new LinkedList(); - int tableIndex = 0; + int reportTableIndex = 0; + int rowIndex = 0; - final Pair covariateValue = new Pair(RecalDataManager.COVARIATE_VALUE_COLUMN_NAME, "%s"); - final Pair covariateName = new Pair(RecalDataManager.COVARIATE_NAME_COLUMN_NAME, "%s"); - final Pair eventType = new Pair(RecalDataManager.EVENT_TYPE_COLUMN_NAME, "%s"); - final Pair empiricalQuality = new Pair(RecalDataManager.EMPIRICAL_QUALITY_COLUMN_NAME, "%.4f"); - final Pair estimatedQReported = new Pair(RecalDataManager.ESTIMATED_Q_REPORTED_COLUMN_NAME, "%.4f"); - final Pair nObservations = new Pair(RecalDataManager.NUMBER_OBSERVATIONS_COLUMN_NAME, "%d"); - final Pair nErrors = new Pair(RecalDataManager.NUMBER_ERRORS_COLUMN_NAME, "%d"); + final Map covariateNameMap = new HashMap(requestedCovariates.length); + for (final Covariate covariate : requestedCovariates) + covariateNameMap.put(covariate, parseCovariateName(covariate)); - for (Map.Entry> entry : keysAndTablesMap.entrySet()) { - BQSRKeyManager keyManager = entry.getKey(); - Map recalTable = entry.getValue(); + for (int tableIndex = 0; tableIndex < recalibrationTables.numTables(); tableIndex++) { - boolean isReadGroupTable = tableIndex == 0; // special case for the read group table so we can print the extra column it needs. - GATKReportTable reportTable = new GATKReportTable("RecalTable" + tableIndex++, ""); - - List requiredList = keyManager.getRequiredCovariates(); // ask the key manager what required covariates were used in this recal table - List optionalList = keyManager.getOptionalCovariates(); // ask the key manager what optional covariates were used in this recal table - - ArrayList> columnNames = new ArrayList>(); // initialize the array to hold the column names - - for (Covariate covariate : requiredList) { - String name = covariate.getClass().getSimpleName().split("Covariate")[0]; // get the covariate names and put them in order - columnNames.add(new Pair(name, "%s")); // save the required covariate name so we can reference it in the future - } - - if (optionalList.size() > 0) { - columnNames.add(covariateValue); - columnNames.add(covariateName); + final ArrayList> columnNames = new ArrayList>(); // initialize the array to hold the column names + columnNames.add(new Pair(covariateNameMap.get(requestedCovariates[0]), "%s")); // save the required covariate name so we can reference it in the future + if (tableIndex != RecalibrationTables.TableType.READ_GROUP_TABLE.index) { + columnNames.add(new Pair(covariateNameMap.get(requestedCovariates[1]), "%s")); // save the required covariate name so we can reference it in the future + if (tableIndex >= RecalibrationTables.TableType.OPTIONAL_COVARIATE_TABLES_START.index) { + columnNames.add(covariateValue); + columnNames.add(covariateName); + } } columnNames.add(eventType); // the order of these column names is important here columnNames.add(empiricalQuality); - if (isReadGroupTable) + if (tableIndex == RecalibrationTables.TableType.READ_GROUP_TABLE.index) columnNames.add(estimatedQReported); // only the read group table needs the estimated Q reported columnNames.add(nObservations); columnNames.add(nErrors); - reportTable.addPrimaryKey("PrimaryKey", false); // every table must have a primary key (hidden) - for (Pair columnName : columnNames) - reportTable.addColumn(columnName.getFirst(), true, columnName.getSecond()); // every table must have the event type + final GATKReportTable reportTable; + if (tableIndex <= RecalibrationTables.TableType.OPTIONAL_COVARIATE_TABLES_START.index) { + reportTable = new GATKReportTable("RecalTable" + reportTableIndex++, "", columnNames.size()); + for (final Pair columnName : columnNames) + reportTable.addColumn(columnName.getFirst(), columnName.getSecond()); + rowIndex = 0; // reset the row index since we're starting with a new table + } else { + reportTable = result.get(RecalibrationTables.TableType.OPTIONAL_COVARIATE_TABLES_START.index); + } - long primaryKey = 0L; + final NestedIntegerArray table = recalibrationTables.getTable(tableIndex); + for (final NestedIntegerArray.Leaf row : table.getAllLeaves()) { + final RecalDatum datum = (RecalDatum)row.value; + final int[] keys = row.keys; - for (Map.Entry recalTableEntry : recalTable.entrySet()) { // create a map with column name => key value for all covariate keys - BitSet bitSetKey = recalTableEntry.getKey(); - Map columnData = new HashMap(columnNames.size()); - Iterator> iterator = columnNames.iterator(); - for (Object key : keyManager.keySetFrom(bitSetKey)) { - String columnName = iterator.next().getFirst(); - columnData.put(columnName, key); + int columnIndex = 0; + int keyIndex = 0; + reportTable.set(rowIndex, columnNames.get(columnIndex++).getFirst(), requestedCovariates[0].formatKey(keys[keyIndex++])); + if (tableIndex != RecalibrationTables.TableType.READ_GROUP_TABLE.index) { + reportTable.set(rowIndex, columnNames.get(columnIndex++).getFirst(), requestedCovariates[1].formatKey(keys[keyIndex++])); + if (tableIndex >= RecalibrationTables.TableType.OPTIONAL_COVARIATE_TABLES_START.index) { + final Covariate covariate = requestedCovariates[tableIndex]; + + reportTable.set(rowIndex, columnNames.get(columnIndex++).getFirst(), covariate.formatKey(keys[keyIndex++])); + reportTable.set(rowIndex, columnNames.get(columnIndex++).getFirst(), covariateNameMap.get(covariate)); + } } - RecalDatum datum = recalTableEntry.getValue(); - columnData.put(iterator.next().getFirst(), datum.getEmpiricalQuality()); - if (isReadGroupTable) - columnData.put(iterator.next().getFirst(), datum.getEstimatedQReported()); // we only add the estimated Q reported in the RG table - columnData.put(iterator.next().getFirst(), datum.numObservations); - columnData.put(iterator.next().getFirst(), datum.numMismatches); - for (Map.Entry dataEntry : columnData.entrySet()) { - String columnName = dataEntry.getKey(); - Object value = dataEntry.getValue(); - reportTable.set(primaryKey, columnName, value.toString()); - } - primaryKey++; + final EventType event = EventType.eventFrom(keys[keyIndex]); + reportTable.set(rowIndex, columnNames.get(columnIndex++).getFirst(), event.toString()); + + reportTable.set(rowIndex, columnNames.get(columnIndex++).getFirst(), datum.getEmpiricalQuality()); + if (tableIndex == RecalibrationTables.TableType.READ_GROUP_TABLE.index) + reportTable.set(rowIndex, columnNames.get(columnIndex++).getFirst(), datum.getEstimatedQReported()); // we only add the estimated Q reported in the RG table + reportTable.set(rowIndex, columnNames.get(columnIndex++).getFirst(), datum.numObservations); + reportTable.set(rowIndex, columnNames.get(columnIndex).getFirst(), datum.numMismatches); + + rowIndex++; } result.add(reportTable); } + return result; } - public static void outputRecalibrationReport(RecalibrationArgumentCollection RAC, QuantizationInfo quantizationInfo, Map> keysAndTablesMap, PrintStream outputFile) { - outputRecalibrationReport(RAC.generateReportTable(), quantizationInfo.generateReportTable(), generateReportTables(keysAndTablesMap), outputFile); + private static String parseCovariateName(final Covariate covariate) { + return covariate.getClass().getSimpleName().split("Covariate")[0]; } - public static void outputRecalibrationReport(GATKReportTable argumentTable, QuantizationInfo quantizationInfo, LinkedHashMap> keysAndTablesMap, PrintStream outputFile) { - outputRecalibrationReport(argumentTable, quantizationInfo.generateReportTable(), generateReportTables(keysAndTablesMap), outputFile); + public static void outputRecalibrationReport(final RecalibrationArgumentCollection RAC, final QuantizationInfo quantizationInfo, final RecalibrationTables recalibrationTables, final Covariate[] requestedCovariates, final PrintStream outputFile) { + outputRecalibrationReport(RAC.generateReportTable(), quantizationInfo.generateReportTable(), generateReportTables(recalibrationTables, requestedCovariates), outputFile); } - private static void outputRecalibrationReport(GATKReportTable argumentTable, GATKReportTable quantizationTable, List recalTables, PrintStream outputFile) { - GATKReport report = new GATKReport(); + public static void outputRecalibrationReport(final GATKReportTable argumentTable, final QuantizationInfo quantizationInfo, final RecalibrationTables recalibrationTables, final Covariate[] requestedCovariates, final PrintStream outputFile) { + outputRecalibrationReport(argumentTable, quantizationInfo.generateReportTable(), generateReportTables(recalibrationTables, requestedCovariates), outputFile); + } + + private static void outputRecalibrationReport(final GATKReportTable argumentTable, final GATKReportTable quantizationTable, final List recalTables, final PrintStream outputFile) { + final GATKReport report = new GATKReport(); report.addTable(argumentTable); report.addTable(quantizationTable); report.addTables(recalTables); @@ -329,7 +319,7 @@ public class RecalDataManager { final File plotFileName = new File(csvFileName + ".pdf"); files.getFirst().close(); - RScriptExecutor executor = new RScriptExecutor(); + final RScriptExecutor executor = new RScriptExecutor(); executor.addScript(new Resource(SCRIPT_FILE, RecalDataManager.class)); executor.addArgs(csvFileName.getAbsolutePath()); executor.addArgs(plotFileName.getAbsolutePath()); @@ -341,107 +331,88 @@ public class RecalDataManager { } - public static void generateRecalibrationPlot(File filename, LinkedHashMap> original, boolean keepIntermediates) { - Pair files = initializeRecalibrationPlot(filename); - writeCSV(files.getFirst(), original, "ORIGINAL", true); + public static void generateRecalibrationPlot(final File filename, final RecalibrationTables original, final Covariate[] requestedCovariates, final boolean keepIntermediates) { + final Pair files = initializeRecalibrationPlot(filename); + writeCSV(files.getFirst(), original, "ORIGINAL", requestedCovariates, true); outputRecalibrationPlot(files, keepIntermediates); } - public static void generateRecalibrationPlot(File filename, LinkedHashMap> original, LinkedHashMap> recalibrated, boolean keepIntermediates) { - Pair files = initializeRecalibrationPlot(filename); - writeCSV(files.getFirst(), recalibrated, "RECALIBRATED", true); - writeCSV(files.getFirst(), original, "ORIGINAL", false); + public static void generateRecalibrationPlot(final File filename, final RecalibrationTables original, final RecalibrationTables recalibrated, final Covariate[] requestedCovariates, final boolean keepIntermediates) { + final Pair files = initializeRecalibrationPlot(filename); + writeCSV(files.getFirst(), recalibrated, "RECALIBRATED", requestedCovariates, true); + writeCSV(files.getFirst(), original, "ORIGINAL", requestedCovariates, false); outputRecalibrationPlot(files, keepIntermediates); } - private static void writeCSV(PrintStream deltaTableFile, LinkedHashMap> map, String recalibrationMode, boolean printHeader) { - final int QUALITY_SCORE_COVARIATE_INDEX = 1; - final Map deltaTable = new HashMap(); - BQSRKeyManager deltaKeyManager = null; + private static void writeCSV(final PrintStream deltaTableFile, final RecalibrationTables recalibrationTables, final String recalibrationMode, final Covariate[] requestedCovariates, final boolean printHeader) { + final NestedHashMap deltaTable = new NestedHashMap(); - for (Map.Entry> tableEntry : map.entrySet()) { - BQSRKeyManager keyManager = tableEntry.getKey(); + // add the quality score table to the delta table + final NestedIntegerArray qualTable = recalibrationTables.getTable(RecalibrationTables.TableType.QUALITY_SCORE_TABLE); + for (final NestedIntegerArray.Leaf leaf : qualTable.getAllLeaves()) { // go through every element in the covariates table to create the delta table + final int[] newCovs = new int[4]; + newCovs[0] = leaf.keys[0]; + newCovs[1] = requestedCovariates.length; // replace the covariate name with an arbitrary (unused) index for QualityScore + newCovs[2] = leaf.keys[1]; + newCovs[3] = leaf.keys[2]; + addToDeltaTable(deltaTable, newCovs, (RecalDatum)leaf.value); // add this covariate to the delta table + } - if (keyManager.getOptionalCovariates().size() > 0) { // initialize with the 'all covariates' table - // create a key manager for the delta table - List requiredCovariates = keyManager.getRequiredCovariates().subList(0, 1); // include the read group covariate as the only required covariate - List optionalCovariates = keyManager.getRequiredCovariates().subList(1, 2); // include the quality score covariate as an optional covariate - optionalCovariates.addAll(keyManager.getOptionalCovariates()); // include all optional covariates - deltaKeyManager = new BQSRKeyManager(requiredCovariates, optionalCovariates); // initialize the key manager + // add the optional covariates to the delta table + for (int i = RecalibrationTables.TableType.OPTIONAL_COVARIATE_TABLES_START.index; i < requestedCovariates.length; i++) { + final NestedIntegerArray covTable = recalibrationTables.getTable(i); + for (final NestedIntegerArray.Leaf leaf : covTable.getAllLeaves()) { + final int[] covs = new int[4]; + covs[0] = leaf.keys[0]; + covs[1] = i; // reset the quality score covariate to 0 from the keyset (so we aggregate all rows regardless of QS) + covs[2] = leaf.keys[2]; + covs[3] = leaf.keys[3]; + addToDeltaTable(deltaTable, covs, (RecalDatum) leaf.value); // add this covariate to the delta table } } - if (deltaKeyManager == null) - throw new ReviewedStingException ("Couldn't find the covariates table"); - - boolean readyToPrint = false; - for (Map.Entry> tableEntry : map.entrySet()) { - BQSRKeyManager keyManager = tableEntry.getKey(); - - if (keyManager.getRequiredCovariates().size() == 2 && keyManager.getOptionalCovariates().isEmpty()) { // look for the QualityScore table - Map table = tableEntry.getValue(); - - // add the quality score table to the delta table - for (Map.Entry entry : table.entrySet()) { // go through every element in the covariates table to create the delta table - RecalDatum recalDatum = entry.getValue(); // the current element (recal datum) - - List covs = keyManager.keySetFrom(entry.getKey()); // extract the key objects from the bitset key - List newCovs = new ArrayList(4); - newCovs.add(0, covs.get(0)); // replace the covariate value with the quality score - newCovs.add(1, covs.get(1)); - newCovs.add(2, "QualityScore"); // replace the covariate name with QualityScore (for the QualityScore covariate) - newCovs.add(3, covs.get(2)); - BitSet deltaKey = deltaKeyManager.bitSetFromKey(newCovs.toArray()); // create a new bitset key for the delta table - addToDeltaTable(deltaTable, deltaKey, recalDatum); // add this covariate to the delta table - } - } - - else if (keyManager.getOptionalCovariates().size() > 0) { // look for the optional covariates table - Map table = tableEntry.getValue(); - - // add the optional covariates to the delta table - for (Map.Entry entry : table.entrySet()) { // go through every element in the covariates table to create the delta table - RecalDatum recalDatum = entry.getValue(); // the current element (recal datum) - - List covs = keyManager.keySetFrom(entry.getKey()); // extract the key objects from the bitset key - covs.remove(QUALITY_SCORE_COVARIATE_INDEX); // reset the quality score covariate to 0 from the keyset (so we aggregate all rows regardless of QS) - BitSet deltaKey = deltaKeyManager.bitSetFromKey(covs.toArray()); // create a new bitset key for the delta table - addToDeltaTable(deltaTable, deltaKey, recalDatum); // add this covariate to the delta table - } - readyToPrint = true; - } - - // output the csv file - if (readyToPrint) { - - if (printHeader) { - List header = new LinkedList(); - header.add("ReadGroup"); - header.add("CovariateValue"); - header.add("CovariateName"); - header.add("EventType"); - header.add("Observations"); - header.add("Errors"); - header.add("EmpiricalQuality"); - header.add("AverageReportedQuality"); - header.add("Accuracy"); - header.add("Recalibration"); - deltaTableFile.println(Utils.join(",", header)); - } - - // print each data line - for(Map.Entry deltaEntry : deltaTable.entrySet()) { - List deltaKeys = deltaKeyManager.keySetFrom(deltaEntry.getKey()); - RecalDatum deltaDatum = deltaEntry.getValue(); - deltaTableFile.print(Utils.join(",", deltaKeys)); - deltaTableFile.print("," + deltaDatum.stringForCSV()); - deltaTableFile.println("," + recalibrationMode); - } - - } - + // output the csv file + if (printHeader) { + final List header = new LinkedList(); + header.add("ReadGroup"); + header.add("CovariateValue"); + header.add("CovariateName"); + header.add("EventType"); + header.add("Observations"); + header.add("Errors"); + header.add("EmpiricalQuality"); + header.add("AverageReportedQuality"); + header.add("Accuracy"); + header.add("Recalibration"); + deltaTableFile.println(Utils.join(",", header)); } + + final Map covariateNameMap = new HashMap(requestedCovariates.length); + for (final Covariate covariate : requestedCovariates) + covariateNameMap.put(covariate, parseCovariateName(covariate)); + + // print each data line + for (final NestedHashMap.Leaf leaf : deltaTable.getAllLeaves()) { + final List deltaKeys = generateValuesFromKeys(leaf.keys, requestedCovariates, covariateNameMap); + final RecalDatum deltaDatum = (RecalDatum)leaf.value; + deltaTableFile.print(Utils.join(",", deltaKeys)); + deltaTableFile.print("," + deltaDatum.stringForCSV()); + deltaTableFile.println("," + recalibrationMode); + } + } + + private static List generateValuesFromKeys(final List keys, final Covariate[] covariates, final Map covariateNameMap) { + final List values = new ArrayList(4); + values.add(covariates[RecalibrationTables.TableType.READ_GROUP_TABLE.index].formatKey((Integer)keys.get(0))); + final int covariateIndex = (Integer)keys.get(1); + final Covariate covariate = covariateIndex == covariates.length ? covariates[RecalibrationTables.TableType.QUALITY_SCORE_TABLE.index] : covariates[covariateIndex]; + final int covariateKey = (Integer)keys.get(2); + values.add(covariate.formatKey(covariateKey)); + values.add(covariateNameMap.get(covariate)); + values.add(EventType.eventFrom((Integer)keys.get(3)).prettyPrint()); + + return values; } /** @@ -453,14 +424,21 @@ public class RecalDataManager { * @param deltaKey the key to the table * @param recalDatum the recal datum to combine with the accuracyDatum element in the table */ - private static void addToDeltaTable(Map deltaTable, BitSet deltaKey, RecalDatum recalDatum) { - RecalDatum deltaDatum = deltaTable.get(deltaKey); // check if we already have a RecalDatum for this key + private static void addToDeltaTable(final NestedHashMap deltaTable, final int[] deltaKey, final RecalDatum recalDatum) { + Object[] wrappedKey = wrapKeys(deltaKey); + final RecalDatum deltaDatum = (RecalDatum)deltaTable.get(wrappedKey); // check if we already have a RecalDatum for this key if (deltaDatum == null) - deltaTable.put(deltaKey, new RecalDatum(recalDatum)); // if we don't have a key yet, create a new one with the same values as the curent datum + deltaTable.put(new RecalDatum(recalDatum), wrappedKey); // if we don't have a key yet, create a new one with the same values as the curent datum else deltaDatum.combine(recalDatum); // if we do have a datum, combine it with this one. } + private static Object[] wrapKeys(final int[] keys) { + final Object[] wrappedKeys = new Object[keys.length]; + for (int i = 0; i < keys.length; i++) + wrappedKeys[i] = keys[i]; + return wrappedKeys; + } /** * Section of code shared between the two recalibration walkers which uses the command line arguments to adjust attributes of the read such as quals or platform string @@ -611,18 +589,32 @@ public class RecalDataManager { * @param requestedCovariates The list of requested covariates. * @return a matrix with all the covariates calculated for every base in the read */ - public static ReadCovariates computeCovariates(final GATKSAMRecord read, final List requestedCovariates) { - final int numRequestedCovariates = requestedCovariates.size(); - final int readLength = read.getReadLength(); - final ReadCovariates readCovariates = new ReadCovariates(readLength, numRequestedCovariates); - - // Loop through the list of requested covariates and compute the values of each covariate for all positions in this read - for (Covariate covariate : requestedCovariates) - readCovariates.addCovariate(covariate.getValues(read)); - + public static ReadCovariates computeCovariates(final GATKSAMRecord read, final Covariate[] requestedCovariates) { + final ReadCovariates readCovariates = new ReadCovariates(read.getReadLength(), requestedCovariates.length); + computeCovariates(read, requestedCovariates, readCovariates); return readCovariates; } + /** + * Computes all requested covariates for every offset in the given read + * by calling covariate.getValues(..). + * + * It populates an array of covariate values where result[i][j] is the covariate + * value for the ith position in the read and the jth covariate in + * reqeustedCovariates list. + * + * @param read The read for which to compute covariate values. + * @param requestedCovariates The list of requested covariates. + * @param resultsStorage The object to store the covariate values + */ + public static void computeCovariates(final GATKSAMRecord read, final Covariate[] requestedCovariates, final ReadCovariates resultsStorage) { + // Loop through the list of requested covariates and compute the values of each covariate for all positions in this read + for (int i = 0; i < requestedCovariates.length; i++) { + resultsStorage.setCovariateIndex(i); + requestedCovariates[i].recordValues(read, resultsStorage); + } + } + /** * Perform a certain transversion (A <-> C or G <-> T) on the base. * diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalDatum.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalDatum.java index 3eb3a3981..9b00b1876 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalDatum.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalDatum.java @@ -25,7 +25,10 @@ package org.broadinstitute.sting.gatk.walkers.bqsr; * OTHER DEALINGS IN THE SOFTWARE. */ +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.QualityUtils; import java.util.Random; @@ -39,6 +42,8 @@ import java.util.Random; public class RecalDatum extends Datum { + private static final double UNINITIALIZED = -1.0; + private double estimatedQReported; // estimated reported quality score based on combined data's individual q-reporteds and number of observations private double empiricalQuality; // the empirical quality for datums that have been collapsed together (by read group and reported quality, for example) @@ -49,18 +54,11 @@ public class RecalDatum extends Datum { // //--------------------------------------------------------------------------------------------------------------- - public RecalDatum() { - numObservations = 0L; - numMismatches = 0L; - estimatedQReported = 0.0; - empiricalQuality = -1.0; - } - - public RecalDatum(final long _numObservations, final long _numMismatches, final double _estimatedQReported, final double _empiricalQuality) { + public RecalDatum(final long _numObservations, final long _numMismatches, final byte reportedQuality) { numObservations = _numObservations; numMismatches = _numMismatches; - estimatedQReported = _estimatedQReported; - empiricalQuality = _empiricalQuality; + estimatedQReported = reportedQuality; + empiricalQuality = UNINITIALIZED; } public RecalDatum(final RecalDatum copy) { @@ -72,36 +70,39 @@ public class RecalDatum extends Datum { public void combine(final RecalDatum other) { final double sumErrors = this.calcExpectedErrors() + other.calcExpectedErrors(); - this.increment(other.numObservations, other.numMismatches); - this.estimatedQReported = -10 * Math.log10(sumErrors / this.numObservations); - this.empiricalQuality = -1.0; // reset the empirical quality calculation so we never have a wrongly calculated empirical quality stored + increment(other.numObservations, other.numMismatches); + estimatedQReported = -10 * Math.log10(sumErrors / this.numObservations); + empiricalQuality = UNINITIALIZED; } - public final void calcCombinedEmpiricalQuality() { - this.empiricalQuality = empiricalQualDouble(); // cache the value so we don't call log over and over again + @Override + public void increment(final boolean isError) { + super.increment(isError); + empiricalQuality = UNINITIALIZED; } - - public final void calcEstimatedReportedQuality() { - this.estimatedQReported = -10 * Math.log10(calcExpectedErrors() / numObservations); + + @Requires("empiricalQuality == UNINITIALIZED") + @Ensures("empiricalQuality != UNINITIALIZED") + protected final void calcEmpiricalQuality() { + empiricalQuality = empiricalQualDouble(); // cache the value so we don't call log over and over again + } + + public void setEstimatedQReported(final double estimatedQReported) { + this.estimatedQReported = estimatedQReported; } public final double getEstimatedQReported() { return estimatedQReported; } - public final double getEmpiricalQuality() { - if (empiricalQuality < 0) - calcCombinedEmpiricalQuality(); - return empiricalQuality; + public void setEmpiricalQuality(final double empiricalQuality) { + this.empiricalQuality = empiricalQuality; } - /** - * Makes a hard copy of the recal datum element - * - * @return a new recal datum object with the same contents of this datum. - */ - public RecalDatum copy() { - return new RecalDatum(numObservations, numMismatches, estimatedQReported, empiricalQuality); + public final double getEmpiricalQuality() { + if (empiricalQuality == UNINITIALIZED) + calcEmpiricalQuality(); + return empiricalQuality; } @Override @@ -113,8 +114,7 @@ public class RecalDatum extends Datum { return String.format("%s,%d,%.2f", toString(), (byte) Math.floor(getEstimatedQReported()), getEmpiricalQuality() - getEstimatedQReported()); } - - private double calcExpectedErrors() { + private double calcExpectedErrors() { return (double) this.numObservations * qualToErrorProb(estimatedQReported); } @@ -123,13 +123,11 @@ public class RecalDatum extends Datum { } public static RecalDatum createRandomRecalDatum(int maxObservations, int maxErrors) { - Random random = new Random(); - int nObservations = random.nextInt(maxObservations); - int nErrors = random.nextInt(maxErrors); - Datum datum = new Datum(nObservations, nErrors); - double empiricalQuality = datum.empiricalQualDouble(); - double estimatedQReported = empiricalQuality + ((10 * random.nextDouble()) - 5); // empirical quality +/- 5. - return new RecalDatum(nObservations, nErrors, estimatedQReported, empiricalQuality); + final Random random = new Random(); + final int nObservations = random.nextInt(maxObservations); + final int nErrors = random.nextInt(maxErrors); + final int qual = random.nextInt(QualityUtils.MAX_QUAL_SCORE); + return new RecalDatum(nObservations, nErrors, (byte)qual); } /** diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationArgumentCollection.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationArgumentCollection.java index 598312916..2a94426a7 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationArgumentCollection.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationArgumentCollection.java @@ -71,16 +71,19 @@ public class RecalibrationArgumentCollection { public boolean LIST_ONLY = false; /** - * Covariates to be used in the recalibration. Each covariate is given as a separate cov parameter. ReadGroup and ReportedQuality are required covariates and are already added for you. See the list of covariates with -list. + * Note that the ReadGroup and QualityScore covariates are required and do not need to be specified. + * Also, unless --no_standard_covs is specified, the Cycle and Context covariates are standard and are included by default. + * Use the --list argument to see the available covariates. */ - @Argument(fullName = "covariate", shortName = "cov", doc = "Covariates to be used in the recalibration. Each covariate is given as a separate cov parameter. ReadGroup and ReportedQuality are required covariates and are already added for you.", required = false) + @Argument(fullName = "covariate", shortName = "cov", doc = "One or more covariates to be used in the recalibration. Can be specified multiple times", required = false) public String[] COVARIATES = null; /* - * Use the standard set of covariates in addition to the ones listed using the -cov argument + * The Cycle and Context covariates are standard and are included by default unless this argument is provided. + * Note that the ReadGroup and QualityScore covariates are required and cannot be excluded. */ - @Argument(fullName = "standard_covs", shortName = "standard", doc = "Use the standard set of covariates in addition to the ones listed using the -cov argument", required = false) - public boolean USE_STANDARD_COVARIATES = true; + @Argument(fullName = "no_standard_covs", shortName = "noStandard", doc = "Do not use the standard set of covariates, but rather just the ones listed using the -cov argument", required = false) + public boolean DO_NOT_USE_STANDARD_COVARIATES = false; ///////////////////////////// // Debugging-only Arguments @@ -114,16 +117,10 @@ public class RecalibrationArgumentCollection { public int MISMATCHES_CONTEXT_SIZE = 2; /** - * The context covariate will use a context of this size to calculate it's covariate value for base insertions + * The context covariate will use a context of this size to calculate it's covariate value for base insertions and deletions */ - @Argument(fullName = "insertions_context_size", shortName = "ics", doc = "size of the k-mer context to be used for base insertions", required = false) - public int INSERTIONS_CONTEXT_SIZE = 8; - - /** - * The context covariate will use a context of this size to calculate it's covariate value for base deletions - */ - @Argument(fullName = "deletions_context_size", shortName = "dcs", doc = "size of the k-mer context to be used for base deletions", required = false) - public int DELETIONS_CONTEXT_SIZE = 8; + @Argument(fullName = "indels_context_size", shortName = "ics", doc = "size of the k-mer context to be used for base insertions and deletions", required = false) + public int INDELS_CONTEXT_SIZE = 3; /** * A default base qualities to use as a prior (reported quality) in the mismatch covariate model. This value will replace all base qualities in the read for this default value. Negative value turns it off (default is off) @@ -156,6 +153,11 @@ public class RecalibrationArgumentCollection { @Argument(fullName = "quantizing_levels", shortName = "ql", required = false, doc = "number of distinct quality scores in the quantized output") public int QUANTIZING_LEVELS = 16; + /** + * The tag name for the binary tag covariate (if using it) + */ + @Argument(fullName = "binary_tag_name", shortName = "bintag", required = false, doc = "the binary tag covariate name if using it") + public String BINARY_TAG_NAME = null; @Hidden @Argument(fullName = "default_platform", shortName = "dP", required = false, doc = "If a read has no platform then default to the provided String. Valid options are illumina, 454, and solid.") @@ -173,26 +175,43 @@ public class RecalibrationArgumentCollection { public File recalibrationReport = null; public GATKReportTable generateReportTable() { - GATKReportTable argumentsTable = new GATKReportTable("Arguments", "Recalibration argument collection values used in this run"); - argumentsTable.addPrimaryKey("Argument"); - argumentsTable.addColumn(RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, "null"); + GATKReportTable argumentsTable = new GATKReportTable("Arguments", "Recalibration argument collection values used in this run", 2); + argumentsTable.addColumn("Argument"); + argumentsTable.addColumn(RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME); + argumentsTable.addRowID("covariate", true); argumentsTable.set("covariate", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, (COVARIATES == null) ? "null" : Utils.join(",", COVARIATES)); - argumentsTable.set("standard_covs", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, USE_STANDARD_COVARIATES); + argumentsTable.addRowID("no_standard_covs", true); + argumentsTable.set("no_standard_covs", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, DO_NOT_USE_STANDARD_COVARIATES); + argumentsTable.addRowID("run_without_dbsnp", true); argumentsTable.set("run_without_dbsnp", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, RUN_WITHOUT_DBSNP); + argumentsTable.addRowID("solid_recal_mode", true); argumentsTable.set("solid_recal_mode", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, SOLID_RECAL_MODE); + argumentsTable.addRowID("solid_nocall_strategy", true); argumentsTable.set("solid_nocall_strategy", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, SOLID_NOCALL_STRATEGY); + argumentsTable.addRowID("mismatches_context_size", true); argumentsTable.set("mismatches_context_size", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, MISMATCHES_CONTEXT_SIZE); - argumentsTable.set("insertions_context_size", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, INSERTIONS_CONTEXT_SIZE); - argumentsTable.set("deletions_context_size", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, DELETIONS_CONTEXT_SIZE); + argumentsTable.addRowID("indels_context_size", true); + argumentsTable.set("indels_context_size", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, INDELS_CONTEXT_SIZE); + argumentsTable.addRowID("mismatches_default_quality", true); argumentsTable.set("mismatches_default_quality", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, MISMATCHES_DEFAULT_QUALITY); + argumentsTable.addRowID("insertions_default_quality", true); argumentsTable.set("insertions_default_quality", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, INSERTIONS_DEFAULT_QUALITY); + argumentsTable.addRowID("low_quality_tail", true); argumentsTable.set("low_quality_tail", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, LOW_QUAL_TAIL); + argumentsTable.addRowID("default_platform", true); argumentsTable.set("default_platform", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, DEFAULT_PLATFORM); + argumentsTable.addRowID("force_platform", true); argumentsTable.set("force_platform", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, FORCE_PLATFORM); + argumentsTable.addRowID("quantizing_levels", true); argumentsTable.set("quantizing_levels", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, QUANTIZING_LEVELS); + argumentsTable.addRowID("keep_intermediate_files", true); argumentsTable.set("keep_intermediate_files", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, KEEP_INTERMEDIATE_FILES); + argumentsTable.addRowID("no_plots", true); argumentsTable.set("no_plots", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, NO_PLOTS); + argumentsTable.addRowID("recalibration_report", true); argumentsTable.set("recalibration_report", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, recalibrationReport == null ? "null" : recalibrationReport.getAbsolutePath()); + argumentsTable.addRowID("binary_tag_name", true); + argumentsTable.set("binary_tag_name", RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME, BINARY_TAG_NAME == null ? "null" : BINARY_TAG_NAME); return argumentsTable; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationEngine.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationEngine.java new file mode 100644 index 000000000..aa62a18bc --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationEngine.java @@ -0,0 +1,36 @@ +package org.broadinstitute.sting.gatk.walkers.bqsr; + +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.recalibration.RecalibrationTables; + +/* +* Copyright (c) 2009 The Broad Institute +* +* Permission is hereby granted, free of charge, to any person +* obtaining a copy of this software and associated documentation +* files (the "Software"), to deal in the Software without +* restriction, including without limitation the rights to use, +* copy, modify, merge, publish, distribute, sublicense, and/or sell +* copies of the Software, and to permit persons to whom the +* Software is furnished to do so, subject to the following +* conditions: +* +* The above copyright notice and this permission notice shall be +* included in all copies or substantial portions of the Software. +* +* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, +* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES +* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND +* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT +* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, +* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING +* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR +* OTHER DEALINGS IN THE SOFTWARE. +*/ +public interface RecalibrationEngine { + + public void initialize(final Covariate[] covariates, final RecalibrationTables recalibrationTables); + + public void updateDataForPileupElement(final PileupElement pileupElement, final byte refBase); + +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationReport.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationReport.java index febbc1280..e69cf4d69 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationReport.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationReport.java @@ -3,8 +3,9 @@ package org.broadinstitute.sting.gatk.walkers.bqsr; import org.broadinstitute.sting.gatk.report.GATKReport; import org.broadinstitute.sting.gatk.report.GATKReportTable; import org.broadinstitute.sting.utils.QualityUtils; +import org.broadinstitute.sting.utils.collections.NestedIntegerArray; import org.broadinstitute.sting.utils.collections.Pair; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.recalibration.RecalibrationTables; import java.io.File; import java.io.PrintStream; @@ -18,14 +19,19 @@ import java.util.*; */ public class RecalibrationReport { private QuantizationInfo quantizationInfo; // histogram containing the counts for qual quantization (calculated after recalibration is done) - private final LinkedHashMap> keysAndTablesMap; // quick access reference to the read group table and its key manager - private final ArrayList requestedCovariates = new ArrayList(); // list of all covariates to be used in this calculation + private final RecalibrationTables recalibrationTables; // quick access reference to the tables + private final Covariate[] requestedCovariates; // list of all covariates to be used in this calculation + private final HashMap optionalCovariateIndexes; private final GATKReportTable argumentTable; // keep the argument table untouched just for output purposes private final RecalibrationArgumentCollection RAC; // necessary for quantizing qualities with the same parameter + private final int[] tempRGarray = new int[2]; + private final int[] tempQUALarray = new int[3]; + private final int[] tempCOVarray = new int[4]; + public RecalibrationReport(final File RECAL_FILE) { - GATKReport report = new GATKReport(RECAL_FILE); + final GATKReport report = new GATKReport(RECAL_FILE); argumentTable = report.getTable(RecalDataManager.ARGUMENT_REPORT_TABLE_TITLE); RAC = initializeArgumentCollectionTable(argumentTable); @@ -36,48 +42,51 @@ public class RecalibrationReport { Pair, ArrayList> covariates = RecalDataManager.initializeCovariates(RAC); // initialize the required and optional covariates ArrayList requiredCovariates = covariates.getFirst(); ArrayList optionalCovariates = covariates.getSecond(); - requestedCovariates.addAll(requiredCovariates); // add all required covariates to the list of requested covariates - requestedCovariates.addAll(optionalCovariates); // add all optional covariates to the list of requested covariates + requestedCovariates = new Covariate[requiredCovariates.size() + optionalCovariates.size()]; + optionalCovariateIndexes = new HashMap(optionalCovariates.size()); + int covariateIndex = 0; + for (final Covariate covariate : requiredCovariates) + requestedCovariates[covariateIndex++] = covariate; + for (final Covariate covariate : optionalCovariates) { + requestedCovariates[covariateIndex] = covariate; + final String covariateName = covariate.getClass().getSimpleName().split("Covariate")[0]; // get the name of the covariate (without the "covariate" part of it) so we can match with the GATKReport + optionalCovariateIndexes.put(covariateName, covariateIndex-2); + covariateIndex++; + } for (Covariate cov : requestedCovariates) cov.initialize(RAC); // initialize any covariate member variables using the shared argument collection - keysAndTablesMap = new LinkedHashMap>(); - ArrayList requiredCovariatesToAdd = new ArrayList(requiredCovariates.size()); // incrementally add the covariates to create the recal tables with 1, 2 and 3 covariates. - ArrayList optionalCovariatesToAdd = new ArrayList(); // initialize an empty array of optional covariates to create the first few tables - for (Covariate covariate : requiredCovariates) { - requiredCovariatesToAdd.add(covariate); - final Map table; // initializing a new recal table for each required covariate (cumulatively) - final BQSRKeyManager keyManager = new BQSRKeyManager(requiredCovariatesToAdd, optionalCovariatesToAdd); // initializing it's corresponding key manager + recalibrationTables = new RecalibrationTables(requestedCovariates, countReadGroups(report.getTable(RecalDataManager.READGROUP_REPORT_TABLE_TITLE))); - int nRequiredCovariates = requiredCovariatesToAdd.size(); // the number of required covariates defines which table we are looking at (RG, QUAL or ALL_COVARIATES) - final String UNRECOGNIZED_REPORT_TABLE_EXCEPTION = "Unrecognized table. Did you add an extra required covariate? This is a hard check."; - if (nRequiredCovariates == 1) { // if there is only one required covariate, this is the read group table - final GATKReportTable reportTable = report.getTable(RecalDataManager.READGROUP_REPORT_TABLE_TITLE); - table = parseReadGroupTable(keyManager, reportTable); - } - else if (nRequiredCovariates == 2 && optionalCovariatesToAdd.isEmpty()) { // when we have both required covariates and no optional covariates we're at the QUAL table - final GATKReportTable reportTable = report.getTable(RecalDataManager.QUALITY_SCORE_REPORT_TABLE_TITLE); - table = parseQualityScoreTable(keyManager, reportTable); - } - else - throw new ReviewedStingException(UNRECOGNIZED_REPORT_TABLE_EXCEPTION); + parseReadGroupTable(report.getTable(RecalDataManager.READGROUP_REPORT_TABLE_TITLE), recalibrationTables.getTable(RecalibrationTables.TableType.READ_GROUP_TABLE)); - keysAndTablesMap.put(keyManager, table); // adding the pair key+table to the map - } + parseQualityScoreTable(report.getTable(RecalDataManager.QUALITY_SCORE_REPORT_TABLE_TITLE), recalibrationTables.getTable(RecalibrationTables.TableType.QUALITY_SCORE_TABLE)); + parseAllCovariatesTable(report.getTable(RecalDataManager.ALL_COVARIATES_REPORT_TABLE_TITLE), recalibrationTables); - final BQSRKeyManager keyManager = new BQSRKeyManager(requiredCovariates, optionalCovariates); // initializing it's corresponding key manager - final GATKReportTable reportTable = report.getTable(RecalDataManager.ALL_COVARIATES_REPORT_TABLE_TITLE); - final Map table = parseAllCovariatesTable(keyManager, reportTable); - keysAndTablesMap.put(keyManager, table); } - protected RecalibrationReport(QuantizationInfo quantizationInfo, LinkedHashMap> keysAndTablesMap, GATKReportTable argumentTable, RecalibrationArgumentCollection RAC) { + protected RecalibrationReport(final QuantizationInfo quantizationInfo, final RecalibrationTables recalibrationTables, final GATKReportTable argumentTable, final RecalibrationArgumentCollection RAC) { this.quantizationInfo = quantizationInfo; - this.keysAndTablesMap = keysAndTablesMap; + this.recalibrationTables = recalibrationTables; this.argumentTable = argumentTable; this.RAC = RAC; + this.requestedCovariates = null; + this.optionalCovariateIndexes = null; + } + + /** + * Counts the number of unique read groups in the table + * + * @param reportTable the GATKReport table containing data for this table + * @return the number of unique read groups + */ + private int countReadGroups(final GATKReportTable reportTable) { + Set readGroups = new HashSet(); + for ( int i = 0; i < reportTable.getNumRows(); i++ ) + readGroups.add(reportTable.get(i, RecalDataManager.READGROUP_COLUMN_NAME).toString()); + return readGroups.size(); } /** @@ -93,29 +102,20 @@ public class RecalibrationReport { * * @param other the recalibration report to combine with this one */ - public void combine(RecalibrationReport other) { - Iterator>> thisIterator = keysAndTablesMap.entrySet().iterator(); + public void combine(final RecalibrationReport other) { - for (Map.Entry> otherEntry : other.getKeysAndTablesMap().entrySet()) { - Map.Entry> thisEntry = thisIterator.next(); + for (RecalibrationTables.TableType type : RecalibrationTables.TableType.values()) { + final NestedIntegerArray myTable = recalibrationTables.getTable(type); + final NestedIntegerArray otherTable = other.recalibrationTables.getTable(type); - Map thisTable = thisEntry.getValue(); - BQSRKeyManager thisKeyManager = thisEntry.getKey(); - BQSRKeyManager otherKeyManager = otherEntry.getKey(); + for (final NestedIntegerArray.Leaf row : otherTable.getAllLeaves()) { + final RecalDatum myDatum = myTable.get(row.keys); - for (Map.Entry otherTableEntry : otherEntry.getValue().entrySet()) { - RecalDatum otherDatum = otherTableEntry.getValue(); - BitSet otherBitKey = otherTableEntry.getKey(); - List otherObjectKey = otherKeyManager.keySetFrom(otherBitKey); - - BitSet thisBitKey = thisKeyManager.bitSetFromKey(otherObjectKey.toArray()); - RecalDatum thisDatum = thisTable.get(thisBitKey); - - if (thisDatum == null) - thisTable.put(thisBitKey, otherDatum); + if (myDatum == null) + myTable.put((RecalDatum)row.value, row.keys); else - thisDatum.combine(otherDatum); - } + myDatum.combine((RecalDatum)row.value); + } } } @@ -123,91 +123,88 @@ public class RecalibrationReport { return quantizationInfo; } - public LinkedHashMap> getKeysAndTablesMap() { - return keysAndTablesMap; + public RecalibrationTables getRecalibrationTables() { + return recalibrationTables; } - public ArrayList getRequestedCovariates() { + public Covariate[] getRequestedCovariates() { return requestedCovariates; } /** * Compiles the list of keys for the Covariates table and uses the shared parsing utility to produce the actual table * - * @param keyManager the key manager for this table * @param reportTable the GATKReport table containing data for this table - * @return a lookup table indexed by bitsets containing the empirical quality and estimated quality reported for every key. - */ - private Map parseAllCovariatesTable(BQSRKeyManager keyManager, GATKReportTable reportTable) { - ArrayList columnNamesOrderedList = new ArrayList(5); - columnNamesOrderedList.add(RecalDataManager.READGROUP_COLUMN_NAME); - columnNamesOrderedList.add(RecalDataManager.QUALITY_SCORE_COLUMN_NAME); - columnNamesOrderedList.add(RecalDataManager.COVARIATE_VALUE_COLUMN_NAME); - columnNamesOrderedList.add(RecalDataManager.COVARIATE_NAME_COLUMN_NAME); - columnNamesOrderedList.add(RecalDataManager.EVENT_TYPE_COLUMN_NAME); - return genericRecalTableParsing(keyManager, reportTable, columnNamesOrderedList, false); + * @param recalibrationTables the recalibration tables +\ */ + private void parseAllCovariatesTable(final GATKReportTable reportTable, final RecalibrationTables recalibrationTables) { + for ( int i = 0; i < reportTable.getNumRows(); i++ ) { + final Object rg = reportTable.get(i, RecalDataManager.READGROUP_COLUMN_NAME); + tempCOVarray[0] = requestedCovariates[0].keyFromValue(rg); + final Object qual = reportTable.get(i, RecalDataManager.QUALITY_SCORE_COLUMN_NAME); + tempCOVarray[1] = requestedCovariates[1].keyFromValue(qual); + + final String covName = (String)reportTable.get(i, RecalDataManager.COVARIATE_NAME_COLUMN_NAME); + final int covIndex = optionalCovariateIndexes.get(covName); + final Object covValue = reportTable.get(i, RecalDataManager.COVARIATE_VALUE_COLUMN_NAME); + tempCOVarray[2] = requestedCovariates[RecalibrationTables.TableType.OPTIONAL_COVARIATE_TABLES_START.index + covIndex].keyFromValue(covValue); + + final EventType event = EventType.eventFrom((String)reportTable.get(i, RecalDataManager.EVENT_TYPE_COLUMN_NAME)); + tempCOVarray[3] = event.index; + + recalibrationTables.getTable(RecalibrationTables.TableType.OPTIONAL_COVARIATE_TABLES_START.index + covIndex).put(getRecalDatum(reportTable, i, false), tempCOVarray); + } } /** * * Compiles the list of keys for the QualityScore table and uses the shared parsing utility to produce the actual table - * @param keyManager the key manager for this table * @param reportTable the GATKReport table containing data for this table - * @return a lookup table indexed by bitsets containing the empirical quality and estimated quality reported for every key. + * @param qualTable the map representing this table */ - private Map parseQualityScoreTable(BQSRKeyManager keyManager, GATKReportTable reportTable) { - ArrayList columnNamesOrderedList = new ArrayList(3); - columnNamesOrderedList.add(RecalDataManager.READGROUP_COLUMN_NAME); - columnNamesOrderedList.add(RecalDataManager.QUALITY_SCORE_COLUMN_NAME); - columnNamesOrderedList.add(RecalDataManager.EVENT_TYPE_COLUMN_NAME); - return genericRecalTableParsing(keyManager, reportTable, columnNamesOrderedList, false); + private void parseQualityScoreTable(final GATKReportTable reportTable, final NestedIntegerArray qualTable) { + for ( int i = 0; i < reportTable.getNumRows(); i++ ) { + final Object rg = reportTable.get(i, RecalDataManager.READGROUP_COLUMN_NAME); + tempQUALarray[0] = requestedCovariates[0].keyFromValue(rg); + final Object qual = reportTable.get(i, RecalDataManager.QUALITY_SCORE_COLUMN_NAME); + tempQUALarray[1] = requestedCovariates[1].keyFromValue(qual); + final EventType event = EventType.eventFrom((String)reportTable.get(i, RecalDataManager.EVENT_TYPE_COLUMN_NAME)); + tempQUALarray[2] = event.index; + + qualTable.put(getRecalDatum(reportTable, i, false), tempQUALarray); + } } /** * Compiles the list of keys for the ReadGroup table and uses the shared parsing utility to produce the actual table * - * @param keyManager the key manager for this table * @param reportTable the GATKReport table containing data for this table - * @return a lookup table indexed by bitsets containing the empirical quality and estimated quality reported for every key. + * @param rgTable the map representing this table */ - private Map parseReadGroupTable(BQSRKeyManager keyManager, GATKReportTable reportTable) { - ArrayList columnNamesOrderedList = new ArrayList(2); - columnNamesOrderedList.add(RecalDataManager.READGROUP_COLUMN_NAME); - columnNamesOrderedList.add(RecalDataManager.EVENT_TYPE_COLUMN_NAME); - return genericRecalTableParsing(keyManager, reportTable, columnNamesOrderedList, true); + private void parseReadGroupTable(final GATKReportTable reportTable, final NestedIntegerArray rgTable) { + for ( int i = 0; i < reportTable.getNumRows(); i++ ) { + final Object rg = reportTable.get(i, RecalDataManager.READGROUP_COLUMN_NAME); + tempRGarray[0] = requestedCovariates[0].keyFromValue(rg); + final EventType event = EventType.eventFrom((String)reportTable.get(i, RecalDataManager.EVENT_TYPE_COLUMN_NAME)); + tempRGarray[1] = event.index; + + rgTable.put(getRecalDatum(reportTable, i, true), tempRGarray); + } } - /** - * Shared parsing functionality for all tables. - * - * @param keyManager the key manager for this table - * @param reportTable the GATKReport table containing data for this table - * @param columnNamesOrderedList a list of columns to read from the report table and build as key for this particular table - * @return a lookup table indexed by bitsets containing the empirical quality and estimated quality reported for every key. - */ - private Map genericRecalTableParsing(BQSRKeyManager keyManager, GATKReportTable reportTable, ArrayList columnNamesOrderedList, boolean hasEstimatedQReportedColumn) { - Map result = new HashMap(reportTable.getNumRows()*2); + private RecalDatum getRecalDatum(final GATKReportTable reportTable, final int row, final boolean hasEstimatedQReportedColumn) { + final long nObservations = (Long) reportTable.get(row, RecalDataManager.NUMBER_OBSERVATIONS_COLUMN_NAME); + final long nErrors = (Long) reportTable.get(row, RecalDataManager.NUMBER_ERRORS_COLUMN_NAME); + final double empiricalQuality = (Double) reportTable.get(row, RecalDataManager.EMPIRICAL_QUALITY_COLUMN_NAME); - for (Object primaryKey : reportTable.getPrimaryKeys()) { - int nKeys = columnNamesOrderedList.size(); - Object [] keySet = new Object[nKeys]; - for (int i = 0; i < nKeys; i++) - keySet[i] = reportTable.get(primaryKey, columnNamesOrderedList.get(i)); // all these objects are okay in String format, the key manager will handle them correctly (except for the event type (see below) - keySet[keySet.length-1] = EventType.eventFrom((String) keySet[keySet.length-1]); // the last key is always the event type. We convert the string ("M", "I" or "D") to an enum object (necessary for the key manager). - BitSet bitKey = keyManager.bitSetFromKey(keySet); + final double estimatedQReported = hasEstimatedQReportedColumn ? // the estimatedQreported column only exists in the ReadGroup table + (Double) reportTable.get(row, RecalDataManager.ESTIMATED_Q_REPORTED_COLUMN_NAME) : // we get it if we are in the read group table + Byte.parseByte((String) reportTable.get(row, RecalDataManager.QUALITY_SCORE_COLUMN_NAME)); // or we use the reported quality if we are in any other table - long nObservations = (Long) reportTable.get(primaryKey, RecalDataManager.NUMBER_OBSERVATIONS_COLUMN_NAME); - long nErrors = (Long) reportTable.get(primaryKey, RecalDataManager.NUMBER_ERRORS_COLUMN_NAME); - double empiricalQuality = (Double) reportTable.get(primaryKey, RecalDataManager.EMPIRICAL_QUALITY_COLUMN_NAME); - - double estimatedQReported = hasEstimatedQReportedColumn ? // the estimatedQreported column only exists in the ReadGroup table - (Double) reportTable.get(primaryKey, RecalDataManager.ESTIMATED_Q_REPORTED_COLUMN_NAME) : // we get it if we are in the read group table - Byte.parseByte((String) reportTable.get(primaryKey, RecalDataManager.QUALITY_SCORE_COLUMN_NAME)); // or we use the reported quality if we are in any other table - - RecalDatum recalDatum = new RecalDatum(nObservations, nErrors, estimatedQReported, empiricalQuality); - result.put(bitKey, recalDatum); - } - return result; + final RecalDatum datum = new RecalDatum(nObservations, nErrors, (byte)1); + datum.setEstimatedQReported(estimatedQReported); + datum.setEmpiricalQuality(empiricalQuality); + return datum; } /** @@ -217,14 +214,14 @@ public class RecalibrationReport { * @return an ArrayList with the quantization mappings from 0 to MAX_QUAL_SCORE */ private QuantizationInfo initializeQuantizationTable(GATKReportTable table) { - Byte[] quals = new Byte[QualityUtils.MAX_QUAL_SCORE + 1]; - Long[] counts = new Long[QualityUtils.MAX_QUAL_SCORE + 1]; - for (Object primaryKey : table.getPrimaryKeys()) { - Object quantizedObject = table.get(primaryKey, RecalDataManager.QUANTIZED_VALUE_COLUMN_NAME); - Object countObject = table.get(primaryKey, RecalDataManager.QUANTIZED_COUNT_COLUMN_NAME); - byte originalQual = Byte.parseByte(primaryKey.toString()); - byte quantizedQual = Byte.parseByte(quantizedObject.toString()); - long quantizedCount = Long.parseLong(countObject.toString()); + final Byte[] quals = new Byte[QualityUtils.MAX_QUAL_SCORE + 1]; + final Long[] counts = new Long[QualityUtils.MAX_QUAL_SCORE + 1]; + for ( int i = 0; i < table.getNumRows(); i++ ) { + final byte originalQual = (byte)i; + final Object quantizedObject = table.get(i, RecalDataManager.QUANTIZED_VALUE_COLUMN_NAME); + final Object countObject = table.get(i, RecalDataManager.QUANTIZED_COUNT_COLUMN_NAME); + final byte quantizedQual = Byte.parseByte(quantizedObject.toString()); + final long quantizedCount = Long.parseLong(countObject.toString()); quals[originalQual] = quantizedQual; counts[originalQual] = quantizedCount; } @@ -238,63 +235,64 @@ public class RecalibrationReport { * @return a RAC object properly initialized with all the objects in the table */ private RecalibrationArgumentCollection initializeArgumentCollectionTable(GATKReportTable table) { - RecalibrationArgumentCollection RAC = new RecalibrationArgumentCollection(); + final RecalibrationArgumentCollection RAC = new RecalibrationArgumentCollection(); - for (Object primaryKey : table.getPrimaryKeys()) { - Object value = table.get(primaryKey, RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME); + for ( int i = 0; i < table.getNumRows(); i++ ) { + final String argument = table.get(i, "Argument").toString(); + Object value = table.get(i, RecalDataManager.ARGUMENT_VALUE_COLUMN_NAME); if (value.equals("null")) value = null; // generic translation of null values that were printed out as strings | todo -- add this capability to the GATKReport - if (primaryKey.equals("covariate") && value != null) + if (argument.equals("covariate") && value != null) RAC.COVARIATES = value.toString().split(","); - else if (primaryKey.equals("standard_covs")) - RAC.USE_STANDARD_COVARIATES = Boolean.parseBoolean((String) value); + else if (argument.equals("standard_covs")) + RAC.DO_NOT_USE_STANDARD_COVARIATES = Boolean.parseBoolean((String) value); - else if (primaryKey.equals("solid_recal_mode")) + else if (argument.equals("solid_recal_mode")) RAC.SOLID_RECAL_MODE = RecalDataManager.SOLID_RECAL_MODE.recalModeFromString((String) value); - else if (primaryKey.equals("solid_nocall_strategy")) + else if (argument.equals("solid_nocall_strategy")) RAC.SOLID_NOCALL_STRATEGY = RecalDataManager.SOLID_NOCALL_STRATEGY.nocallStrategyFromString((String) value); - else if (primaryKey.equals("mismatches_context_size")) + else if (argument.equals("mismatches_context_size")) RAC.MISMATCHES_CONTEXT_SIZE = Integer.parseInt((String) value); - else if (primaryKey.equals("insertions_context_size")) - RAC.INSERTIONS_CONTEXT_SIZE = Integer.parseInt((String) value); + else if (argument.equals("indels_context_size")) + RAC.INDELS_CONTEXT_SIZE = Integer.parseInt((String) value); - else if (primaryKey.equals("deletions_context_size")) - RAC.DELETIONS_CONTEXT_SIZE = Integer.parseInt((String) value); - - else if (primaryKey.equals("mismatches_default_quality")) + else if (argument.equals("mismatches_default_quality")) RAC.MISMATCHES_DEFAULT_QUALITY = Byte.parseByte((String) value); - else if (primaryKey.equals("insertions_default_quality")) + else if (argument.equals("insertions_default_quality")) RAC.INSERTIONS_DEFAULT_QUALITY = Byte.parseByte((String) value); - else if (primaryKey.equals("deletions_default_quality")) + else if (argument.equals("deletions_default_quality")) RAC.DELETIONS_DEFAULT_QUALITY = Byte.parseByte((String) value); - else if (primaryKey.equals("low_quality_tail")) + else if (argument.equals("low_quality_tail")) RAC.LOW_QUAL_TAIL = Byte.parseByte((String) value); - else if (primaryKey.equals("default_platform")) + else if (argument.equals("default_platform")) RAC.DEFAULT_PLATFORM = (String) value; - else if (primaryKey.equals("force_platform")) + else if (argument.equals("force_platform")) RAC.FORCE_PLATFORM = (String) value; - else if (primaryKey.equals("quantizing_levels")) + else if (argument.equals("quantizing_levels")) RAC.QUANTIZING_LEVELS = Integer.parseInt((String) value); - else if (primaryKey.equals("keep_intermediate_files")) + else if (argument.equals("keep_intermediate_files")) RAC.KEEP_INTERMEDIATE_FILES = Boolean.parseBoolean((String) value); - else if (primaryKey.equals("no_plots")) + else if (argument.equals("no_plots")) RAC.NO_PLOTS = Boolean.parseBoolean((String) value); - else if (primaryKey.equals("recalibration_report")) + else if (argument.equals("recalibration_report")) RAC.recalibrationReport = (value == null) ? null : new File((String) value); + + else if (argument.equals("binary_tag_name")) + RAC.BINARY_TAG_NAME = (value == null) ? null : (String) value; } return RAC; @@ -304,56 +302,19 @@ public class RecalibrationReport { * this functionality avoids recalculating the empirical qualities, estimated reported quality * and quantization of the quality scores during every call of combine(). Very useful for the BQSRGatherer. */ - public void calculateEmpiricalAndQuantizedQualities() { - for (Map table : keysAndTablesMap.values()) - for (RecalDatum datum : table.values()) - datum.calcCombinedEmpiricalQuality(); - - quantizationInfo = new QuantizationInfo(keysAndTablesMap, RAC.QUANTIZING_LEVELS); + public void calculateQuantizedQualities() { + quantizationInfo = new QuantizationInfo(recalibrationTables, RAC.QUANTIZING_LEVELS); } public void output(PrintStream output) { - RecalDataManager.outputRecalibrationReport(argumentTable, quantizationInfo, keysAndTablesMap, output); + RecalDataManager.outputRecalibrationReport(argumentTable, quantizationInfo, recalibrationTables, requestedCovariates, output); } public RecalibrationArgumentCollection getRAC() { return RAC; } - @Override - public boolean equals(Object o) { - if (!(o instanceof RecalibrationReport)) - return false; - RecalibrationReport other = (RecalibrationReport) o; - if (this == o) - return true; - return isEqualTable(this.keysAndTablesMap, other.keysAndTablesMap); - } - - private boolean isEqualTable(LinkedHashMap> t1, LinkedHashMap> t2) { - if (t1.size() != t2.size()) - return false; - - Iterator>> t1Iterator = t1.entrySet().iterator(); - Iterator>> t2Iterator = t2.entrySet().iterator(); - - while (t1Iterator.hasNext() && t2Iterator.hasNext()) { - Map.Entry> t1MapEntry = t1Iterator.next(); - Map.Entry> t2MapEntry = t2Iterator.next(); - - if (!(t1MapEntry.getKey().equals(t2MapEntry.getKey()))) - return false; - - Map table2 = t2MapEntry.getValue(); - for (Map.Entry t1TableEntry : t1MapEntry.getValue().entrySet()) { - BitSet t1Key = t1TableEntry.getKey(); - if (!table2.containsKey(t1Key)) - return false; - RecalDatum t1Datum = t1TableEntry.getValue(); - if (!t1Datum.equals(table2.get(t1Key))) - return false; - } - } - return true; + public Covariate[] getCovariates() { + return requestedCovariates; } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/StandardRecalibrationEngine.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/StandardRecalibrationEngine.java new file mode 100644 index 000000000..a24506d07 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/StandardRecalibrationEngine.java @@ -0,0 +1,110 @@ +package org.broadinstitute.sting.gatk.walkers.bqsr; + +/* + * Copyright (c) 2009 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +import org.broadinstitute.sting.utils.BaseUtils; +import org.broadinstitute.sting.utils.classloader.PublicPackageSource; +import org.broadinstitute.sting.utils.collections.NestedIntegerArray; +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.recalibration.RecalibrationTables; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; + +public class StandardRecalibrationEngine implements RecalibrationEngine, PublicPackageSource { + + protected Covariate[] covariates; + protected RecalibrationTables recalibrationTables; + + public void initialize(final Covariate[] covariates, final RecalibrationTables recalibrationTables) { + this.covariates = covariates; + this.recalibrationTables = recalibrationTables; + } + + /** + * Loop through the list of requested covariates and pick out the value from the read, offset, and reference + * Using the list of covariate values as a key, pick out the RecalDatum and increment, + * adding one to the number of observations and potentially one to the number of mismatches for mismatches only. + * + * @param pileupElement The pileup element to update + * @param refBase The reference base at this locus + */ + public synchronized void updateDataForPileupElement(final PileupElement pileupElement, final byte refBase) { + final int offset = pileupElement.getOffset(); + final ReadCovariates readCovariates = covariateKeySetFrom(pileupElement.getRead()); + + final byte qual = pileupElement.getQual(); + final boolean isError = !BaseUtils.basesAreEqual(pileupElement.getBase(), refBase); + + final int[] keys = readCovariates.getKeySet(offset, EventType.BASE_SUBSTITUTION); + final int eventIndex = EventType.BASE_SUBSTITUTION.index; + + final NestedIntegerArray rgRecalTable = recalibrationTables.getTable(RecalibrationTables.TableType.READ_GROUP_TABLE); + final RecalDatum rgPreviousDatum = rgRecalTable.get(keys[0], eventIndex); + final RecalDatum rgThisDatum = createDatumObject(qual, isError); + if (rgPreviousDatum == null) // key doesn't exist yet in the map so make a new bucket and add it + rgRecalTable.put(rgThisDatum, keys[0], eventIndex); + else + rgPreviousDatum.combine(rgThisDatum); + + final NestedIntegerArray qualRecalTable = recalibrationTables.getTable(RecalibrationTables.TableType.QUALITY_SCORE_TABLE); + final RecalDatum qualPreviousDatum = qualRecalTable.get(keys[0], keys[1], eventIndex); + if (qualPreviousDatum == null) + qualRecalTable.put(createDatumObject(qual, isError), keys[0], keys[1], eventIndex); + else + qualPreviousDatum.increment(isError); + + for (int i = 2; i < covariates.length; i++) { + if (keys[i] < 0) + continue; + final NestedIntegerArray covRecalTable = recalibrationTables.getTable(i); + final RecalDatum covPreviousDatum = covRecalTable.get(keys[0], keys[1], keys[i], eventIndex); + if (covPreviousDatum == null) + covRecalTable.put(createDatumObject(qual, isError), keys[0], keys[1], keys[i], eventIndex); + else + covPreviousDatum.increment(isError); + } + } + + /** + * creates a datum object with one observation and one or zero error + * + * @param reportedQual the quality score reported by the instrument for this base + * @param isError whether or not the observation is an error + * @return a new RecalDatum object with the observation and the error + */ + protected RecalDatum createDatumObject(final byte reportedQual, final boolean isError) { + return new RecalDatum(1, isError ? 1:0, reportedQual); + } + + /** + * Get the covariate key set from a read + * + * @param read the read + * @return the covariate keysets for this read + */ + protected ReadCovariates covariateKeySetFrom(GATKSAMRecord read) { + return (ReadCovariates) read.getTemporaryAttribute(BaseRecalibrator.COVARS_ATTRIBUTE); + } +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CallableLociWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CallableLoci.java similarity index 99% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CallableLociWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CallableLoci.java index 2a8940de0..bc791a5a4 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CallableLociWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CallableLoci.java @@ -120,7 +120,7 @@ import java.io.PrintStream; * @since May 7, 2010 */ @By(DataSource.REFERENCE) -public class CallableLociWalker extends LocusWalker { +public class CallableLoci extends LocusWalker { @Output PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CompareCallableLociWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CompareCallableLoci.java similarity index 74% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CompareCallableLociWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CompareCallableLoci.java index cd5fdc505..64a51f1b3 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CompareCallableLociWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CompareCallableLoci.java @@ -41,7 +41,7 @@ import java.util.List; /** * Test routine for new VariantContext object */ -public class CompareCallableLociWalker extends RodWalker, long[][]> { +public class CompareCallableLoci extends RodWalker, long[][]> { @Output protected PrintStream out; @@ -54,8 +54,8 @@ public class CompareCallableLociWalker extends RodWalker map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { + public List map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { if ( tracker != null ) { - CallableLociWalker.CallableBaseState comp1 = getCallableBaseState(tracker, compTrack1); - CallableLociWalker.CallableBaseState comp2 = getCallableBaseState(tracker, compTrack2); + CallableLoci.CallableBaseState comp1 = getCallableBaseState(tracker, compTrack1); + CallableLoci.CallableBaseState comp2 = getCallableBaseState(tracker, compTrack2); if ( printState != null && comp1.getState() == printState1 && comp2.getState() == printState2 ) { out.printf("%s %s %s %s%n", comp1.getLocation(), comp1.getState(), comp2.getLocation(), comp2.getState()); @@ -92,7 +92,7 @@ public class CompareCallableLociWalker extends RodWalker rodBinding) { + private CallableLoci.CallableBaseState getCallableBaseState(RefMetaDataTracker tracker, RodBinding rodBinding) { //System.out.printf("tracker %s%n", tracker); List bindings = tracker.getValues(rodBinding); if ( bindings.size() != 1 ) { @@ -101,8 +101,8 @@ public class CompareCallableLociWalker extends RodWalker comps, long[][] sum) { + public long[][] reduce(List comps, long[][] sum) { if ( comps != null ) { - CallableLociWalker.CallableBaseState comp1 = comps.get(0); - CallableLociWalker.CallableBaseState comp2 = comps.get(1); + CallableLoci.CallableBaseState comp1 = comps.get(0); + CallableLoci.CallableBaseState comp2 = comps.get(1); sum[comp1.getState().ordinal()][comp2.getState().ordinal()]++; } @@ -127,8 +127,8 @@ public class CompareCallableLociWalker extends RodWalker>, CoveragePartitioner> implements TreeReducible { +public class DepthOfCoverage extends LocusWalker>, CoveragePartitioner> implements TreeReducible { @Output @Multiplex(value=DoCOutputMultiplexer.class,arguments={"partitionTypes","refSeqGeneList","omitDepthOutput","omitIntervals","omitSampleSummary","omitLocusTable"}) Map out; @@ -405,15 +405,19 @@ public class DepthOfCoverageWalker extends LocusWalker 0 ) { + for(DoCOutputType.Partition partition: partitionTypes) { + if ( checkType(statsByInterval.get(0).getSecond().getCoverageByAggregationType(partition) ,partition) ) { + printIntervalStats(statsByInterval, + getCorrectStream(partition, DoCOutputType.Aggregation.interval, DoCOutputType.FileType.summary), + getCorrectStream(partition, DoCOutputType.Aggregation.interval, DoCOutputType.FileType.statistics), + partition); + } else { + throw new ReviewedStingException("Partition type "+partition.toString()+" had no entries. Please check that your .bam header has all appropriate partition types."); + } } + } else { + throw new UserException.CommandLineException("Cannot reduce by interval without interval list provided. Please provide a -L argument."); } onTraversalDone(mergeAll(statsByInterval)); @@ -503,6 +507,38 @@ public class DepthOfCoverageWalker extends LocusWalker geneStats : statsByGene ) { printTargetSummary(geneSummaryOut,geneStats); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/GCContentByIntervalWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/GCContentByInterval.java similarity index 97% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/GCContentByIntervalWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/GCContentByInterval.java index 124be2eb4..77d3aa897 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/GCContentByIntervalWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/GCContentByInterval.java @@ -63,7 +63,7 @@ import java.util.List; @Allows(value = {DataSource.REFERENCE}) @Requires(value = {DataSource.REFERENCE}) @By(DataSource.REFERENCE) -public class GCContentByIntervalWalker extends LocusWalker { +public class GCContentByInterval extends LocusWalker { @Output protected PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycle.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycle.java index 10ac523e6..a48570fc6 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycle.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycle.java @@ -1,6 +1,5 @@ package org.broadinstitute.sting.gatk.walkers.diagnostics; -import net.sf.samtools.SAMReadGroupRecord; import org.broadinstitute.sting.commandline.Argument; import org.broadinstitute.sting.commandline.Output; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; @@ -122,15 +121,14 @@ public class ErrorRatePerCycle extends LocusWalker { public void initialize() { report = new GATKReport(); - report.addTable(reportName, reportDescription); + report.addTable(reportName, reportDescription, 6, true); table = report.getTable(reportName); - table.addPrimaryKey("key", false); - table.addColumn("readgroup", 0); - table.addColumn("cycle", 0); - table.addColumn("mismatches", 0); - table.addColumn("counts", 0); - table.addColumn("qual", 0); - table.addColumn("errorrate", 0.0f, "%.2e"); + table.addColumn("readgroup"); + table.addColumn("cycle"); + table.addColumn("mismatches"); + table.addColumn("counts"); + table.addColumn("qual"); + table.addColumn("errorrate", "%.2e"); } public Integer map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { @@ -147,9 +145,11 @@ public class ErrorRatePerCycle extends LocusWalker { if ( BaseUtils.isRegularBase(readBase) && BaseUtils.isRegularBase(refBase) ) { final TableKey key = new TableKey(read.getReadGroup().getReadGroupId(), cycle); - if ( ! table.containsKey(key) ) { + if ( ! table.containsRowID(key) ) { table.set(key, "cycle", cycle); table.set(key, "readgroup", read.getReadGroup().getReadGroupId()); + table.set(key, "counts", 0); + table.set(key, "mismatches", 0); } table.increment(key, "counts"); @@ -167,7 +167,7 @@ public class ErrorRatePerCycle extends LocusWalker { public Integer reduce(Integer value, Integer sum) { return null; } public void onTraversalDone(Integer sum) { - for ( final Object key : table.getPrimaryKeys() ) { + for ( Object key : table.getRowIDs() ) { final int mismatches = (Integer)table.get(key, "mismatches"); final int count = (Integer)table.get(key, "counts"); final double errorRate = (mismatches + 1) / (1.0*(count + 1)); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupProperties.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupProperties.java index 14985907d..e4e3c271e 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupProperties.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupProperties.java @@ -168,27 +168,28 @@ public class ReadGroupProperties extends ReadWalker { @Override public void onTraversalDone(Integer sum) { final GATKReport report = new GATKReport(); - report.addTable(TABLE_NAME, "Table of read group properties"); + report.addTable(TABLE_NAME, "Table of read group properties", 12); GATKReportTable table = report.getTable(TABLE_NAME); DateFormat dateFormatter = DateFormat.getDateInstance(DateFormat.SHORT); - table.addPrimaryKey("readgroup"); + table.addColumn("readgroup"); //* Emits a GATKReport containing read group, sample, library, platform, center, median insert size and //* median read length for each read group in every BAM file. - table.addColumn("sample", "NA"); - table.addColumn("library", "NA"); - table.addColumn("platform", "NA"); - table.addColumn("center", "NA"); - table.addColumn("date", "NA"); - table.addColumn("has.any.reads", "false"); - table.addColumn("is.paired.end", "false"); - table.addColumn("n.reads.analyzed", "NA"); - table.addColumn("simple.read.type", "NA"); - table.addColumn("median.read.length", Integer.valueOf(0)); - table.addColumn("median.insert.size", Integer.valueOf(0)); + table.addColumn("sample", "%s"); + table.addColumn("library", "%s"); + table.addColumn("platform", "%s"); + table.addColumn("center", "%s"); + table.addColumn("date", "%s"); + table.addColumn("has.any.reads"); + table.addColumn("is.paired.end"); + table.addColumn("n.reads.analyzed", "%d"); + table.addColumn("simple.read.type", "%s"); + table.addColumn("median.read.length"); + table.addColumn("median.insert.size"); for ( final SAMReadGroupRecord rg : getToolkit().getSAMFileHeader().getReadGroups() ) { final String rgID = rg.getId(); + table.addRowID(rgID, true); PerReadGroupInfo info = readGroupInfo.get(rgID); // we are paired if > 25% of reads are paired diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadLengthDistribution.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadLengthDistribution.java index 2d88baf3f..0f5432b80 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadLengthDistribution.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadLengthDistribution.java @@ -53,20 +53,19 @@ public class ReadLengthDistribution extends ReadWalker { private GATKReport report; public void initialize() { + final List readGroups = getToolkit().getSAMFileHeader().getReadGroups(); + report = new GATKReport(); - report.addTable("ReadLengthDistribution", "Table of read length distributions"); + report.addTable("ReadLengthDistribution", "Table of read length distributions", 1 + (readGroups.isEmpty() ? 1 : readGroups.size())); GATKReportTable table = report.getTable("ReadLengthDistribution"); - table.addPrimaryKey("readLength"); + table.addColumn("readLength"); - List readGroups = getToolkit().getSAMFileHeader().getReadGroups(); if (readGroups.isEmpty()) - table.addColumn("SINGLE_SAMPLE", 0); - + table.addColumn("SINGLE_SAMPLE"); else for (SAMReadGroupRecord rg : readGroups) - table.addColumn(rg.getSample(), 0); - + table.addColumn(rg.getSample()); } public boolean filter(ReferenceContext ref, GATKSAMRecord read) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/CallableStatus.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/CallableStatus.java index 5d1685557..2aa4c977d 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/CallableStatus.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/CallableStatus.java @@ -31,38 +31,29 @@ package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; * @since 2/1/12 */ public enum CallableStatus { - /** - * the reference base was an N, which is not considered callable the GATK - */ - // todo -- implement this status + REF_N("the reference base was an N, which is not considered callable the GATK"), - /** - * the base satisfied the min. depth for calling but had less than maxDepth to avoid having EXCESSIVE_COVERAGE - */ + PASS("the base satisfied the min. depth for calling but had less than maxDepth to avoid having EXCESSIVE_COVERAGE"), - /** - * absolutely no reads were seen at this locus, regardless of the filtering parameters - */ - NO_COVERAGE("absolutely no reads were seen at this locus, regardless of the filtering parameters"), - /** - * there were less than min. depth bases at the locus, after applying filters - */ + + COVERAGE_GAPS("absolutely no coverage was observed at a locus, regardless of the filtering parameters"), + LOW_COVERAGE("there were less than min. depth bases at the locus, after applying filters"), - /** - * more than -maxDepth read at the locus, indicating some sort of mapping problem - */ + EXCESSIVE_COVERAGE("more than -maxDepth read at the locus, indicating some sort of mapping problem"), - /** - * more than --maxFractionOfReadsWithLowMAPQ at the locus, indicating a poor mapping quality of the reads - */ + POOR_QUALITY("more than --maxFractionOfReadsWithLowMAPQ at the locus, indicating a poor mapping quality of the reads"), - BAD_MATE(""), + BAD_MATE("the reads are not properly mated, suggesting mapping errors"), - INCONSISTENT_COVERAGE(""); + NO_READS("there are no reads contained in the interval"), + // + // Interval-level statuses + // + LOW_MEDIAN_DEPTH("interval has insufficient median depth across samples"); - public String description; + public final String description; private CallableStatus(String description) { this.description = description; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/DiagnoseTargets.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/DiagnoseTargets.java index d73b22664..369731530 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/DiagnoseTargets.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/DiagnoseTargets.java @@ -25,91 +25,127 @@ package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; import net.sf.picard.util.PeekableIterator; -import org.broad.tribble.Feature; -import org.broadinstitute.sting.commandline.*; +import org.broadinstitute.sting.commandline.Argument; +import org.broadinstitute.sting.commandline.Output; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.*; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.SampleUtils; -import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.variantcontext.Allele; -import org.broadinstitute.sting.utils.variantcontext.Genotype; -import org.broadinstitute.sting.utils.variantcontext.VariantContext; -import org.broadinstitute.sting.utils.variantcontext.VariantContextBuilder; +import org.broadinstitute.sting.utils.variantcontext.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import java.util.*; /** - * Short one line description of the walker. + * Analyzes coverage distribution and validates read mates for a given interval and sample. *

*

- * [Long description of the walker] + * Used to diagnose regions with bad coverage, mapping, or read mating. Analyzes each sample independently in addition + * to interval wide analysis. *

*

*

*

Input

*

- * [Description of the Input] + *

    + *
  • A reference file
  • + *
  • one or more input BAMs
  • + *
  • One or more intervals
  • + *
*

*

*

Output

*

- * [Description of the Output] + * A modified VCF detailing each interval by sample *

*

*

Examples

*
  *    java
  *      -jar GenomeAnalysisTK.jar
- *      -T [walker name]
+ *              -T DiagnoseTargets \
+ *              -R reference.fasta \
+ *              -o output.vcf \
+ *              -I sample1.bam \
+ *              -I sample2.bam \
+ *              -I sample3.bam \
+ *              -L intervals.interval_list
  *  
* - * @author Mauricio Carneiro - * @since 2/1/12 + * @author Mauricio Carneiro, Roger Zurawicki + * @since 5/8/12 */ @By(value = DataSource.READS) @PartitionBy(PartitionType.INTERVAL) -public class DiagnoseTargets extends LocusWalker implements AnnotatorCompatibleWalker { - @Input(fullName = "interval_track", shortName = "int", doc = "", required = true) - private IntervalBinding intervalTrack = null; +public class DiagnoseTargets extends LocusWalker { @Output(doc = "File to which variants should be written", required = true) - private VCFWriter vcfWriter = null; + private VariantContextWriter vcfWriter = null; - @Argument(fullName = "minimum_base_quality", shortName = "mbq", doc = "", required = false) + @Argument(fullName = "minimum_base_quality", shortName = "BQ", doc = "The minimum Base Quality that is considered for calls", required = false) private int minimumBaseQuality = 20; - @Argument(fullName = "minimum_mapping_quality", shortName = "mmq", doc = "", required = false) + @Argument(fullName = "minimum_mapping_quality", shortName = "MQ", doc = "The minimum read mapping quality considered for calls", required = false) private int minimumMappingQuality = 20; - @Argument(fullName = "minimum_coverage", shortName = "mincov", doc = "", required = false) + @Argument(fullName = "minimum_coverage", shortName = "min", doc = "The minimum allowable coverage, used for calling LOW_COVERAGE", required = false) private int minimumCoverage = 5; - @Argument(fullName = "maximum_coverage", shortName = "maxcov", doc = "", required = false) + @Argument(fullName = "maximum_coverage", shortName = "max", doc = "The maximum allowable coverage, used for calling EXCESSIVE_COVERAGE", required = false) private int maximumCoverage = 700; - private HashMap intervalMap = null; // interval => statistics + @Argument(fullName = "minimum_median_depth", shortName = "med", doc = "The minimum allowable median coverage, used for calling LOW_MEDIAN_DEPTH", required = false) + private int minMedianDepth = 10; + + @Argument(fullName = "maximum_insert_size", shortName = "ins", doc = "The maximum allowed distance between a read and its mate", required = false) + private int maxInsertSize = 500; + + @Argument(fullName = "voting_status_threshold", shortName = "stV", doc = "The needed percentage of samples containing a call for the interval to adopt the call ", required = false) + private double votePercentage = 0.50; + + @Argument(fullName = "low_median_depth_status_threshold", shortName = "stMED", doc = "The percentage of the loci needed for calling LOW_MEDIAN_DEPTH", required = false) + private double lowMedianDepthPercentage = 0.20; + + @Argument(fullName = "bad_mate_status_threshold", shortName = "stBM", doc = "The percentage of the loci needed for calling BAD_MATE", required = false) + private double badMateStatusThreshold = 0.50; + + @Argument(fullName = "coverage_status_threshold", shortName = "stC", doc = "The percentage of the loci needed for calling LOW_COVERAGE and COVERAGE_GAPS", required = false) + private double coverageStatusThreshold = 0.20; + + @Argument(fullName = "excessive_coverage_status_threshold", shortName = "stXC", doc = "The percentage of the loci needed for calling EXCESSIVE_COVERAGE", required = false) + private double excessiveCoverageThreshold = 0.20; + + @Argument(fullName = "quality_status_threshold", shortName = "stQ", doc = "The percentage of the loci needed for calling POOR_QUALITY", required = false) + private double qualityStatusThreshold = 0.50; + + @Argument(fullName = "print_debug_log", shortName = "dl", doc = "Used only for debugging the walker. Prints extra info to screen", required = false) + private boolean debug = false; + + private HashMap intervalMap = null; // maps each interval => statistics private PeekableIterator intervalListIterator; // an iterator to go over all the intervals provided as we traverse the genome private Set samples = null; // all the samples being processed - private final Allele SYMBOLIC_ALLELE = Allele.create("
", false); // avoid creating the symbolic allele multiple times + private ThresHolder thresholds = null; @Override public void initialize() { super.initialize(); - if (intervalTrack == null) - throw new UserException("This tool currently only works if you provide an interval track"); + if (getToolkit().getIntervals() == null) + throw new UserException("This tool only works if you provide one or more intervals. ( Use the -L argument )"); + + thresholds = new ThresHolder(minimumBaseQuality, minimumMappingQuality, minimumCoverage, maximumCoverage, minMedianDepth, maxInsertSize, votePercentage, lowMedianDepthPercentage, badMateStatusThreshold, coverageStatusThreshold, excessiveCoverageThreshold, qualityStatusThreshold); intervalMap = new HashMap(); - intervalListIterator = new PeekableIterator(intervalTrack.getIntervals(getToolkit()).listIterator()); + intervalListIterator = new PeekableIterator(getToolkit().getIntervals().iterator()); samples = SampleUtils.getSAMFileSamples(getToolkit().getSAMFileHeader()); // get all of the unique sample names for the VCF Header - vcfWriter.writeHeader(new VCFHeader(getHeaderInfo(), samples)); // initialize the VCF header + vcfWriter.writeHeader(new VCFHeader(ThresHolder.getHeaderInfo(), samples)); // initialize the VCF header } @Override @@ -120,7 +156,7 @@ public class DiagnoseTargets extends LocusWalker implements Annotato addNewOverlappingIntervals(refLocus); // add all new intervals that may overlap this reference locus for (IntervalStatistics intervalStatistics : intervalMap.values()) - intervalStatistics.addLocus(context); // Add current locus to stats + intervalStatistics.addLocus(context, ref, thresholds); // Add current locus to stats return 1L; } @@ -150,46 +186,53 @@ public class DiagnoseTargets extends LocusWalker implements Annotato @Override public void onTraversalDone(Long result) { for (GenomeLoc interval : intervalMap.keySet()) - processIntervalStats(intervalMap.get(interval), Allele.create("A")); + outputStatsToVCF(intervalMap.get(interval), Allele.create("A", true)); } - @Override - public RodBinding getSnpEffRodBinding() {return null;} + private GenomeLoc getIntervalMapSpan() { + GenomeLoc loc = null; + for (GenomeLoc interval : intervalMap.keySet()) { + if (loc == null) { + loc = interval; + } else + loc = interval.union(loc); + } - @Override - public RodBinding getDbsnpRodBinding() {return null;} + return loc; + } - @Override - public List> getCompRodBindings() {return null;} + private GenomeLoc getFinishedIntervalSpan(GenomeLoc pos) { + GenomeLoc loc = null; + for (GenomeLoc interval : intervalMap.keySet()) { + if (interval.isBefore(pos)) { + if (loc == null) + loc = interval; + else + loc = interval.union(loc); + } + } - @Override - public List> getResourceRodBindings() {return null;} - - @Override - public boolean alwaysAppendDbsnpId() {return false;} + return loc; + } /** * Removes all intervals that are behind the current reference locus from the intervalMap * * @param refLocus the current reference locus - * @param refBase the reference allele + * @param refBase the reference allele */ private void removePastIntervals(GenomeLoc refLocus, byte refBase) { - List toRemove = new LinkedList(); - for (GenomeLoc interval : intervalMap.keySet()) - if (interval.isBefore(refLocus)) { - processIntervalStats(intervalMap.get(interval), Allele.create(refBase, true)); - toRemove.add(interval); + // if there are statistics to output/ check to see that we can output them in order + if (getFinishedIntervalSpan(refLocus) != null && + getIntervalMapSpan().getStart() == getFinishedIntervalSpan(refLocus).getStart()) { + + for (GenomeLoc interval : intervalMap.keySet()) { + if (interval.isBefore(refLocus)) { + outputStatsToVCF(intervalMap.get(interval), Allele.create(refBase, true)); + intervalMap.remove(interval); + } } - for (GenomeLoc interval : toRemove) - intervalMap.remove(interval); - - GenomeLoc interval = intervalListIterator.peek(); // clean up all intervals that we might have skipped because there was no data - while(interval != null && interval.isBefore(refLocus)) { - interval = intervalListIterator.next(); - processIntervalStats(createIntervalStatistic(interval), Allele.create(refBase, true)); - interval = intervalListIterator.peek(); } } @@ -201,7 +244,6 @@ public class DiagnoseTargets extends LocusWalker implements Annotato private void addNewOverlappingIntervals(GenomeLoc refLocus) { GenomeLoc interval = intervalListIterator.peek(); while (interval != null && !interval.isPast(refLocus)) { - System.out.println("LOCUS : " + refLocus + " -- " + interval); intervalMap.put(interval, createIntervalStatistic(interval)); intervalListIterator.next(); // discard the interval (we've already added it to the map) interval = intervalListIterator.peek(); @@ -209,80 +251,73 @@ public class DiagnoseTargets extends LocusWalker implements Annotato } /** - * Takes the interval, finds it in the stash, prints it to the VCF, and removes it + * Takes the interval, finds it in the stash, prints it to the VCF * - * @param stats The statistics of the interval + * @param stats The statistics of the interval * @param refAllele the reference allele */ - private void processIntervalStats(IntervalStatistics stats, Allele refAllele) { + private void outputStatsToVCF(IntervalStatistics stats, Allele refAllele) { GenomeLoc interval = stats.getInterval(); - + + List alleles = new ArrayList(); Map attributes = new HashMap(); ArrayList genotypes = new ArrayList(); alleles.add(refAllele); alleles.add(SYMBOLIC_ALLELE); - VariantContextBuilder vcb = new VariantContextBuilder("DiagnoseTargets", interval.getContig(), interval.getStart(), interval.getStart(), alleles); + VariantContextBuilder vcb = new VariantContextBuilder("DiagnoseTargets", interval.getContig(), interval.getStart(), interval.getStop(), alleles); vcb = vcb.log10PError(VariantContext.NO_LOG10_PERROR); // QUAL field makes no sense in our VCF - vcb.filters(statusesToStrings(stats.callableStatuses())); + vcb.filters(new HashSet(statusesToStrings(stats.callableStatuses(thresholds), true))); attributes.put(VCFConstants.END_KEY, interval.getStop()); - attributes.put(VCFConstants.DEPTH_KEY, stats.averageCoverage()); + attributes.put(ThresHolder.AVG_INTERVAL_DP_KEY, stats.averageCoverage()); vcb = vcb.attributes(attributes); - + if (debug) { + System.out.printf("Output -- Interval: %s, Coverage: %.2f%n", stats.getInterval(), stats.averageCoverage()); + } for (String sample : samples) { - Map infos = new HashMap(); - infos.put(VCFConstants.DEPTH_KEY, stats.getSample(sample).averageCoverage()); + final GenotypeBuilder gb = new GenotypeBuilder(sample); - Set filters = new HashSet(); - filters.addAll(statusesToStrings(stats.getSample(sample).getCallableStatuses())); + SampleStatistics sampleStat = stats.getSample(sample); + gb.attribute(ThresHolder.AVG_INTERVAL_DP_KEY, sampleStat.averageCoverage()); + gb.attribute("Q1", sampleStat.getQuantileDepth(0.25)); + gb.attribute("MED", sampleStat.getQuantileDepth(0.50)); + gb.attribute("Q3", sampleStat.getQuantileDepth(0.75)); + if (debug) { + System.out.printf("Found %d bad mates out of %d reads %n", sampleStat.getnBadMates(), sampleStat.getnReads()); + } + gb.filters(statusesToStrings(stats.getSample(sample).getCallableStatuses(thresholds), false)); - genotypes.add(new Genotype(sample, null, VariantContext.NO_LOG10_PERROR, filters, infos, false)); + genotypes.add(gb.make()); } vcb = vcb.genotypes(genotypes); + vcfWriter.add(vcb.make()); } /** - * Gets the header lines for the VCF writer + * Function that process a set of statuses into strings * - * @return A set of VCF header lines + * @param statuses the set of statuses to be converted + * @return a matching set of strings */ - private static Set getHeaderInfo() { - Set headerLines = new HashSet(); - - // INFO fields for overall data - headerLines.add(new VCFInfoHeaderLine(VCFConstants.END_KEY, 1, VCFHeaderLineType.Integer, "Stop position of the interval")); - headerLines.add(new VCFInfoHeaderLine(VCFConstants.DEPTH_KEY, 1, VCFHeaderLineType.Float, "Average depth across the interval. Sum of the depth in a lci divided by interval size.")); - headerLines.add(new VCFInfoHeaderLine("Diagnose Targets", 0, VCFHeaderLineType.Flag, "DiagnoseTargets mode")); - - // FORMAT fields for each genotype - headerLines.add(new VCFFormatHeaderLine(VCFConstants.DEPTH_KEY, 1, VCFHeaderLineType.Float, "Average depth across the interval. Sum of the depth in a lci divided by interval size.")); - - // FILTER fields - for (CallableStatus stat : CallableStatus.values()) - headerLines.add(new VCFHeaderLine(stat.name(), stat.description)); - - return headerLines; - } - - - private static Set statusesToStrings(Set statuses) { - Set output = new HashSet(statuses.size()); + private List statusesToStrings(Set statuses, final boolean includePASS) { + List output = new ArrayList(statuses.size()); for (CallableStatus status : statuses) - output.add(status.name()); + if ( includePASS || status != CallableStatus.PASS ) // adding pass => results in a filter for genotypes + output.add(status.name()); return output; } private IntervalStatistics createIntervalStatistic(GenomeLoc interval) { - return new IntervalStatistics(samples, interval, minimumCoverage, maximumCoverage, minimumMappingQuality, minimumBaseQuality); + return new IntervalStatistics(samples, interval); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/FindCoveredIntervals.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/FindCoveredIntervals.java new file mode 100644 index 000000000..8c4cab877 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/FindCoveredIntervals.java @@ -0,0 +1,83 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; + +import org.broadinstitute.sting.commandline.Output; +import org.broadinstitute.sting.gatk.contexts.AlignmentContext; +import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; +import org.broadinstitute.sting.gatk.walkers.ActiveRegionExtension; +import org.broadinstitute.sting.gatk.walkers.ActiveRegionWalker; +import org.broadinstitute.sting.gatk.walkers.PartitionBy; +import org.broadinstitute.sting.gatk.walkers.PartitionType; +import org.broadinstitute.sting.utils.GenomeLoc; + +import java.io.PrintStream; + +@PartitionBy(PartitionType.CONTIG) +@ActiveRegionExtension(extension = 0, maxRegion = 50000) +public class FindCoveredIntervals extends ActiveRegionWalker { + @Output(required = true) + private PrintStream out; + + @Override + // Look to see if the region has sufficient coverage + public double isActive(final RefMetaDataTracker tracker, final ReferenceContext ref, final AlignmentContext context) { + + int depth = ThresHolder.DEFAULTS.getFilteredCoverage(context.getBasePileup()); + + // note the linear probability scale + int coverageThreshold = 20; + return Math.min((double) depth / coverageThreshold, 1); + + } + + @Override + public GenomeLoc map(final org.broadinstitute.sting.utils.activeregion.ActiveRegion activeRegion, final RefMetaDataTracker tracker) { + if (activeRegion.isActive) + return activeRegion.getLocation(); + else + return null; + } + + @Override + public Long reduceInit() { + return 0L; + } + + @Override + public Long reduce(final GenomeLoc value, Long reduce) { + if (value != null) { + out.println(value.toString()); + return reduce++; + } else + return reduce; + } + + @Override + public void onTraversalDone(Long reduce) { + logger.info(String.format("Found %d intervals", reduce)); + } +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/IntervalStatistics.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/IntervalStatistics.java index f3246407b..5731c41c5 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/IntervalStatistics.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/IntervalStatistics.java @@ -25,6 +25,7 @@ package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; +import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; @@ -34,19 +35,24 @@ import java.util.HashSet; import java.util.Map; import java.util.Set; -public class IntervalStatistics { +class IntervalStatistics { private final Map samples; private final GenomeLoc interval; + private boolean hasNref = false; private int preComputedTotalCoverage = -1; // avoids re-calculating the total sum (-1 means we haven't pre-computed it yet) - - public IntervalStatistics(Set samples, GenomeLoc interval, int minimumCoverageThreshold, int maximumCoverageThreshold, int minimumMappingQuality, int minimumBaseQuality) { + /* + private double minMedianDepth = 20.0; + private double badMedianDepthPercentage = 0.20; + private double votePercentage = 0.50; + */ + public IntervalStatistics(Set samples, GenomeLoc interval/*, int minimumCoverageThreshold, int maximumCoverageThreshold, int minimumMappingQuality, int minimumBaseQuality*/) { this.interval = interval; this.samples = new HashMap(samples.size()); for (String sample : samples) - this.samples.put(sample, new SampleStatistics(interval, minimumCoverageThreshold, maximumCoverageThreshold, minimumMappingQuality, minimumBaseQuality)); + this.samples.put(sample, new SampleStatistics(interval /*, minimumCoverageThreshold, maximumCoverageThreshold, minimumMappingQuality, minimumBaseQuality*/)); } public SampleStatistics getSample(String sample) { @@ -57,9 +63,19 @@ public class IntervalStatistics { return interval; } - public void addLocus(AlignmentContext context) { + /** + * The function to populate data into the Statistics from the walker. + * This takes the input and manages passing the data to the SampleStatistics and Locus Statistics + * + * @param context The alignment context given from the walker + * @param ref the reference context given from the walker + * @param thresholds the class contains the statistical threshold for making calls + */ + public void addLocus(AlignmentContext context, ReferenceContext ref, ThresHolder thresholds) { ReadBackedPileup pileup = context.getBasePileup(); + //System.out.println(ref.getLocus().toString()); + Map samplePileups = pileup.getPileupsForSamples(samples.keySet()); for (Map.Entry entry : samplePileups.entrySet()) { @@ -67,15 +83,16 @@ public class IntervalStatistics { ReadBackedPileup samplePileup = entry.getValue(); SampleStatistics sampleStatistics = samples.get(sample); - if (sampleStatistics == null) + if (sampleStatistics == null) throw new ReviewedStingException(String.format("Trying to add locus statistics to a sample (%s) that doesn't exist in the Interval.", sample)); - - sampleStatistics.addLocus(context.getLocation(), samplePileup); + + sampleStatistics.addLocus(context.getLocation(), samplePileup, thresholds); } + if (!hasNref && ref.getBase() == 'N') + hasNref = true; } - public double averageCoverage() { if (preComputedTotalCoverage < 0) calculateTotalCoverage(); @@ -90,15 +107,43 @@ public class IntervalStatistics { /** * Return the Callable statuses for the interval as a whole - * todo -- add a voting system for sample flags and add interval specific statuses + * todo -- add missingness filter * + * @param thresholds the class contains the statistical threshold for making calls * @return the callable status(es) for the whole interval */ - public Set callableStatuses() { + public Set callableStatuses(ThresHolder thresholds) { Set output = new HashSet(); + // Initialize the Map + Map votes = new HashMap(); + for (CallableStatus status : CallableStatus.values()) + votes.put(status, 0); + + // tally up the votes for (SampleStatistics sample : samples.values()) - output.addAll(sample.getCallableStatuses()); + for (CallableStatus status : sample.getCallableStatuses(thresholds)) + votes.put(status, votes.get(status) + 1); + + // output tall values above the threshold + for (CallableStatus status : votes.keySet()) { + if (votes.get(status) > (samples.size() * thresholds.getVotePercentageThreshold()) && !(status.equals(CallableStatus.PASS))) + output.add(status); + } + + + if (hasNref) + output.add(CallableStatus.REF_N); + + // get median DP of each sample + int nLowMedianDepth = 0; + for (SampleStatistics sample : samples.values()) { + if (sample.getQuantileDepth(0.5) < thresholds.getMinimumMedianDepth()) + nLowMedianDepth++; + } + + if (nLowMedianDepth > (samples.size() * thresholds.getLowMedianDepthThreshold())) + output.add(CallableStatus.LOW_MEDIAN_DEPTH); return output; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/LocusStatistics.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/LocusStatistics.java index 237ca1b1c..90563505d 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/LocusStatistics.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/LocusStatistics.java @@ -27,9 +27,9 @@ package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; import java.util.HashSet; import java.util.Set; -public class LocusStatistics { - final int coverage; - final int rawCoverage; +class LocusStatistics { + private final int coverage; + private final int rawCoverage; public LocusStatistics() { this.coverage = 0; @@ -52,21 +52,20 @@ public class LocusStatistics { /** * Generates all applicable statuses from the coverages in this locus * - * @param minimumCoverageThreshold the minimum threshold for determining low coverage/poor quality - * @param maximumCoverageThreshold the maximum threshold for determining excessive coverage + * @param thresholds the class contains the statistical threshold for making calls * @return a set of all statuses that apply */ - public Set callableStatuses(int minimumCoverageThreshold, int maximumCoverageThreshold) { + public Set callableStatuses(ThresHolder thresholds) { Set output = new HashSet(); // if too much coverage - if (getCoverage() > maximumCoverageThreshold) + if (getCoverage() > thresholds.getMaximumCoverage()) output.add(CallableStatus.EXCESSIVE_COVERAGE); // if not enough coverage - if (getCoverage() < minimumCoverageThreshold) { + if (getCoverage() < thresholds.getMinimumCoverage()) { // was there a lot of low Qual coverage? - if (getRawCoverage() >= minimumCoverageThreshold) + if (getRawCoverage() >= thresholds.getMinimumCoverage()) output.add(CallableStatus.POOR_QUALITY); // no? else { @@ -74,7 +73,7 @@ public class LocusStatistics { if (getRawCoverage() > 0) output.add(CallableStatus.LOW_COVERAGE); else - output.add(CallableStatus.NO_COVERAGE); + output.add(CallableStatus.COVERAGE_GAPS); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/SampleStatistics.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/SampleStatistics.java index 9e4993853..0fc2d8929 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/SampleStatistics.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/SampleStatistics.java @@ -27,41 +27,36 @@ package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import java.util.*; /** - * Short one line description of the walker. - * - * @author Mauricio Carneiro - * @since 2/1/12 + * The statistics calculator for a specific sample given the interval */ class SampleStatistics { private final GenomeLoc interval; private final ArrayList loci; - private final int minimumCoverageThreshold; - private final int maximumCoverageThreshold; - private final int minimumMappingQuality; - private final int minimumBaseQuality; + private int[] preSortedDepths = null; + private int preComputedTotalCoverage = -1; // avoids re-calculating the total sum (-1 means we haven't pre-computed it yet) - private int preComputedTotalCoverage = -1; // avoids re-calculating the total sum (-1 means we haven't pre-computed it yet) + private int nReads = -1; + private int nBadMates = -1; - private SampleStatistics(GenomeLoc interval, ArrayList loci, int minimumCoverageThreshold, int maximumCoverageThreshold, int minimumMappingQuality, int minimumBaseQuality) { + private SampleStatistics(GenomeLoc interval, ArrayList loci) { this.interval = interval; this.loci = loci; - this.minimumCoverageThreshold = minimumCoverageThreshold; - this.maximumCoverageThreshold = maximumCoverageThreshold; - this.minimumMappingQuality = minimumMappingQuality; - this.minimumBaseQuality = minimumBaseQuality; + nReads = 0; + nBadMates = 0; } - public SampleStatistics(GenomeLoc interval, int minimumCoverageThreshold, int maximumCoverageThreshold, int minimumMappingQuality, int minimumBaseQuality) { - this(interval, new ArrayList(interval.size()), minimumCoverageThreshold, maximumCoverageThreshold, minimumMappingQuality, minimumBaseQuality); + public SampleStatistics(GenomeLoc interval) { + this(interval, new ArrayList(interval.size())); // Initialize every loci (this way we don't have to worry about non-existent loci in the object for (int i = 0; i < interval.size(); i++) - this.loci.add(i, new LocusStatistics()); + this.loci.add(new LocusStatistics()); } @@ -78,66 +73,71 @@ class SampleStatistics { } /** - * Calculates the callable statuses of the entire interval + * Calculates the callable statuses of the entire sample * - * @return the callable statuses of the entire interval + * @param thresholds the class contains the statistical threshold for making calls + * @return the callable statuses of the entire sample */ - public Set getCallableStatuses() { + public Set getCallableStatuses(ThresHolder thresholds) { + // We check if reads are present ot prevent div / 0 exceptions + if (nReads == 0) { + return Collections.singleton(CallableStatus.NO_READS); + } - Map totals = new HashMap(CallableStatus.values().length); + Set output = new HashSet(); + Map totals = new HashMap(CallableStatus.values().length); // initialize map for (CallableStatus status : CallableStatus.values()) - totals.put(status, 0); + totals.put(status, 0.0); // sum up all the callable statuses for each locus for (int i = 0; i < interval.size(); i++) { - for (CallableStatus status : callableStatus(i)) { - int count = totals.get(status); + for (CallableStatus status : callableStatus(i, thresholds)) { + double count = totals.get(status); totals.put(status, count + 1); } } - - Set output = new HashSet(); - - // double to avoid type casting double intervalSize = interval.size(); - double coverageStatusThreshold = 0.20; - if ((totals.get(CallableStatus.NO_COVERAGE) / intervalSize) > coverageStatusThreshold) - output.add(CallableStatus.NO_COVERAGE); + if (((double) nBadMates / nReads) >= thresholds.getBadMateStatusThreshold()) + output.add(CallableStatus.BAD_MATE); - if ((totals.get(CallableStatus.LOW_COVERAGE) / intervalSize) > coverageStatusThreshold) + if ((totals.get(CallableStatus.COVERAGE_GAPS) / intervalSize) >= thresholds.getCoverageStatusThreshold()) + output.add(CallableStatus.COVERAGE_GAPS); + + if ((totals.get(CallableStatus.LOW_COVERAGE) / intervalSize) >= thresholds.getCoverageStatusThreshold()) output.add(CallableStatus.LOW_COVERAGE); - double excessiveCoverageThreshold = 0.20; - if ((totals.get(CallableStatus.EXCESSIVE_COVERAGE) / intervalSize) > excessiveCoverageThreshold) + if ((totals.get(CallableStatus.EXCESSIVE_COVERAGE) / intervalSize) >= thresholds.getExcessiveCoverageThreshold()) output.add(CallableStatus.EXCESSIVE_COVERAGE); - double qualityStatusThreshold = 0.50; - if ((totals.get(CallableStatus.POOR_QUALITY) / intervalSize) > qualityStatusThreshold) + if ((totals.get(CallableStatus.POOR_QUALITY) / intervalSize) >= thresholds.getQualityStatusThreshold()) output.add(CallableStatus.POOR_QUALITY); if (totals.get(CallableStatus.REF_N) > 0) output.add(CallableStatus.REF_N); + if (output.isEmpty()) { output.add(CallableStatus.PASS); } + return output; } /** * Adds a locus to the interval wide stats * - * @param locus The locus given as a GenomeLoc - * @param pileup The pileup of that locus + * @param locus The locus given as a GenomeLoc + * @param pileup The pileup of that locus, this exclusively contains the sample + * @param thresholds the class contains the statistical threshold for making calls */ - public void addLocus(GenomeLoc locus, ReadBackedPileup pileup) { + public void addLocus(GenomeLoc locus, ReadBackedPileup pileup, ThresHolder thresholds) { if (!interval.containsP(locus)) - throw new ReviewedStingException(String.format("Locus %s is not part of the Interval", locus)); + throw new ReviewedStingException(String.format("Locus %s is not part of the Interval %s", locus, interval)); // a null pileup means there nothing ot add if (pileup != null) { @@ -145,31 +145,154 @@ class SampleStatistics { int locusIndex = locus.getStart() - interval.getStart(); int rawCoverage = pileup.depthOfCoverage(); - int coverage = pileup.getBaseAndMappingFilteredPileup(minimumBaseQuality, minimumMappingQuality).depthOfCoverage(); + int coverage = thresholds.getFilteredCoverage(pileup); LocusStatistics locusData = new LocusStatistics(coverage, rawCoverage); - loci.add(locusIndex, locusData); + loci.set(locusIndex, locusData); + + for (GATKSAMRecord read : pileup.getReads()) + processRead(read, thresholds); + } + } + + private void processRead(GATKSAMRecord read, ThresHolder thresholds) { + // Was this read already processed? + if (read.getTemporaryAttribute("checkedBadMate") == null) { + nReads++; + if (!hasValidMate(read, thresholds)) + nBadMates++; + read.setTemporaryAttribute("checkedBadMate", true); } } /** - * returns the callable status of this locus without taking the reference base into account. + * returns the callable status of a given locus without taking the reference base into account. * * @param locusIndex location in the genome to inquire (only one locus) + * @param thresholds the class contains the statistical threshold for making calls * @return the callable status of a locus */ - private Set callableStatus(int locusIndex) { + private Set callableStatus(int locusIndex, ThresHolder thresholds) { LocusStatistics locus = loci.get(locusIndex); - return locus.callableStatuses(minimumCoverageThreshold, maximumCoverageThreshold); + return locus.callableStatuses(thresholds); } - private void calculateTotalCoverage() { preComputedTotalCoverage = 0; for (LocusStatistics locus : loci) preComputedTotalCoverage += locus.getCoverage(); } + public double getQuantileDepth(double percentage) { + if (preSortedDepths == null) + getDepthsAsSortedArray(); + + return getQuartile(preSortedDepths, percentage); + } + + static double getQuartile(int[] data, double percentage) { + int size = data.length; + if (size == 1) + return (double) data[0]; + + if (percentage == 0.5) { + return getMedian(data); + } + + double position = (size - 1.0) / 2; + if (percentage == 0.25) { + // if the position is a whole number + return getMedian(Arrays.copyOfRange(data, 0, (int) position + 1)); + + } + if (percentage == 0.75) { + if (position % 1 == 0) { + return getMedian(Arrays.copyOfRange(data, (int) position, size)); + } else { + return getMedian(Arrays.copyOfRange(data, (int) position + 1, size)); + } + } + return -1; + } + + // Assumes data is sorted + private static double getMedian(int[] data) { + double size = (double) data.length; + if (size == 1) + return (double) data[0]; + + double position = (size - 1.0) / 2; + + if (position % 1 == 0) + return (double) data[(int) position]; + + else { + double high = (double) data[(int) Math.ceil(position)]; + double low = (double) data[(int) Math.floor(position)]; + + return (high + low) / 2; + + } + + } + + private void getDepthsAsSortedArray() { + preSortedDepths = new int[loci.size()]; + + for (int i = 0; i < loci.size(); i++) + preSortedDepths[i] = loci.get(i).getCoverage(); + + Arrays.sort(preSortedDepths); + } + + boolean hasValidMate(GATKSAMRecord read, ThresHolder thresholds) { + /** Check the following + * Does it have a pair? + * reasonable insert size? + * inverted? + * same orientation? + * same contig? + * is pair mapped? + * todo - is forced mate? + * + */ + + // has NO pair + if (!read.getReadPairedFlag()) + return false; + + // different contigs + if (read.getMateReferenceIndex() != read.getReferenceIndex()) + return false; + + // unmapped + if (read.getMateUnmappedFlag() || read.getReadUnmappedFlag()) + return false; + + // same orientation + if (read.getReadNegativeStrandFlag() == read.getMateNegativeStrandFlag()) + return false; + + // inverted + if (read.getReadNegativeStrandFlag() == + read.getAlignmentStart() < read.getMateAlignmentStart()) + return false; + + // TODO note: IGV uses a different algorithm for insert size, there should be a common util class that does this for you + // mates are too far apart + if (Math.abs(read.getAlignmentStart() - read.getMateAlignmentStart()) > thresholds.getMaximumInsertSize()) + return false; + + return true; + } + + public int getnReads() { + return nReads; + } + + public int getnBadMates() { + return nBadMates; + } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/ThresHolder.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/ThresHolder.java new file mode 100644 index 000000000..0d8195551 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/ThresHolder.java @@ -0,0 +1,152 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; + +import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; + +import java.util.HashSet; +import java.util.Set; + +class ThresHolder { + public static final String AVG_INTERVAL_DP_KEY = "AVG_INTERVAL_DP"; + public static final ThresHolder DEFAULTS = new ThresHolder(20, 20, 5, 700, 20, 50, 0.5, 0.2, 0.5, 0.2, 0.2, 0.5); + + private final int minimumBaseQuality; + private final int minimumMappingQuality; + + private final int minimumCoverage; + private final int maximumCoverage; + private final int minimumMedianDepth; + + private final int maximumInsertSize; + + private final double votePercentageThreshold; + private final double lowMedianDepthThreshold; + private final double badMateStatusThreshold; + private final double coverageStatusThreshold; + private final double excessiveCoverageThreshold; + private final double qualityStatusThreshold; + + public ThresHolder(int minimumBaseQuality, + int minimumMappingQuality, + int minimumCoverage, + int maximumCoverage, + int minimumMedianDepth, + int maximumInsertSize, + double votePercentageThreshold, + double lowMedianDepthThreshold, + double badMateStatusThreshold, + double coverageStatusThreshold, + double excessiveCoverageThreshold, + double qualityStatusThreshold) { + this.minimumBaseQuality = minimumBaseQuality; + this.minimumMappingQuality = minimumMappingQuality; + this.minimumCoverage = minimumCoverage; + this.maximumCoverage = maximumCoverage; + this.minimumMedianDepth = minimumMedianDepth; + this.maximumInsertSize = maximumInsertSize; + this.votePercentageThreshold = votePercentageThreshold; + this.lowMedianDepthThreshold = lowMedianDepthThreshold; + this.badMateStatusThreshold = badMateStatusThreshold; + this.coverageStatusThreshold = coverageStatusThreshold; + this.excessiveCoverageThreshold = excessiveCoverageThreshold; + this.qualityStatusThreshold = qualityStatusThreshold; + } + + public int getMinimumCoverage() { + return minimumCoverage; + } + + public int getMaximumCoverage() { + return maximumCoverage; + } + + public int getMinimumMedianDepth() { + return minimumMedianDepth; + } + + public int getMaximumInsertSize() { + return maximumInsertSize; + } + + public double getVotePercentageThreshold() { + return votePercentageThreshold; + } + + public double getLowMedianDepthThreshold() { + return lowMedianDepthThreshold; + } + + public double getBadMateStatusThreshold() { + return badMateStatusThreshold; + } + + public double getCoverageStatusThreshold() { + return coverageStatusThreshold; + } + + public double getExcessiveCoverageThreshold() { + return excessiveCoverageThreshold; + } + + public double getQualityStatusThreshold() { + return qualityStatusThreshold; + } + + public int getFilteredCoverage(ReadBackedPileup pileup) { + return pileup.getBaseAndMappingFilteredPileup(minimumBaseQuality, minimumMappingQuality).depthOfCoverage(); + } + + /** + * Gets the header lines for the VCF writer + * + * @return A set of VCF header lines + */ + public static Set getHeaderInfo() { + Set headerLines = new HashSet(); + + // INFO fields for overall data + headerLines.add(VCFStandardHeaderLines.getInfoLine(VCFConstants.END_KEY)); + headerLines.add(new VCFInfoHeaderLine(AVG_INTERVAL_DP_KEY, 1, VCFHeaderLineType.Float, "Average depth across the interval. Sum of the depth in a loci divided by interval size.")); + headerLines.add(new VCFInfoHeaderLine("Diagnose Targets", 0, VCFHeaderLineType.Flag, "DiagnoseTargets mode")); + + // FORMAT fields for each genotype + // todo -- find the appropriate VCF constants + headerLines.add(VCFStandardHeaderLines.getFormatLine(VCFConstants.GENOTYPE_FILTER_KEY)); + headerLines.add(new VCFFormatHeaderLine(AVG_INTERVAL_DP_KEY, 1, VCFHeaderLineType.Float, "Average depth across the interval. Sum of the depth in a loci divided by interval size.")); + headerLines.add(new VCFFormatHeaderLine("Q1", 1, VCFHeaderLineType.Float, "Lower Quartile of depth distribution.")); + headerLines.add(new VCFFormatHeaderLine("MED", 1, VCFHeaderLineType.Float, "Median of depth distribution.")); + headerLines.add(new VCFFormatHeaderLine("Q3", 1, VCFHeaderLineType.Float, "Upper Quartile of depth Distribution.")); + + + // FILTER fields + for (CallableStatus stat : CallableStatus.values()) + headerLines.add(new VCFFilterHeaderLine(stat.name(), stat.description)); + + return headerLines; + } + +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/BAMDiffableReader.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/BAMDiffableReader.java index a1c043365..2d372ca9f 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/BAMDiffableReader.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/BAMDiffableReader.java @@ -55,8 +55,6 @@ public class BAMDiffableReader implements DiffableReader { int count = 0; while ( iterator.hasNext() ) { - if ( count++ > maxElementsToRead && maxElementsToRead != -1) - break; final SAMRecord record = iterator.next(); // name is the read name + first of pair @@ -88,6 +86,9 @@ public class BAMDiffableReader implements DiffableReader { if ( ! root.hasElement(name) ) // protect ourselves from malformed files root.add(readRoot); + count += readRoot.size(); + if ( count > maxElementsToRead && maxElementsToRead != -1) + break; } reader.close(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffEngine.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffEngine.java index 3f4b4805f..40ed26608 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffEngine.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffEngine.java @@ -147,11 +147,7 @@ public class DiffEngine { * @param diffs the list of differences to summarize */ public void reportSummarizedDifferences(List diffs, SummaryReportParams params ) { - printSummaryReport(summarizeDifferences(diffs), params ); - } - - public List summarizeDifferences(List diffs) { - return summarizedDifferencesOfPaths(diffs); + printSummaryReport(summarizedDifferencesOfPaths(diffs, params.doPairwise, params.maxRawDiffsToSummarize), params ); } final protected static String[] diffNameToPath(String diffName) { @@ -165,10 +161,19 @@ public class DiffEngine { diffs.add(new Difference(diff)); } - return summarizedDifferencesOfPaths(diffs); + return summarizedDifferencesOfPaths(diffs, true, -1); } - protected List summarizedDifferencesOfPaths(List singletonDiffs) { + /** + * Computes a minimum set of potential differences between all singleton differences + * in singletonDiffs. Employs an expensive pairwise O(n^2) algorithm. + * + * @param singletonDiffs + * @param maxRawDiffsToSummarize + * @return + */ + private Map initialPairwiseSummaries(final List singletonDiffs, + final int maxRawDiffsToSummarize) { Map summaries = new HashMap(); // create the initial set of differences @@ -184,10 +189,52 @@ public class DiffEngine { Difference sumDiff = new Difference(path, diffPath2.getMaster(), diffPath2.getTest()); sumDiff.setCount(0); addSummaryIfMissing(summaries, sumDiff); + + if ( maxRawDiffsToSummarize != -1 && summaries.size() > maxRawDiffsToSummarize) + return summaries; } } } + return summaries; + } + + /** + * Computes the possible leaf differences among the singleton diffs. + * + * The leaf differences are all of the form *.*...*.X where all internal + * differences are wildcards and the only summarized difference considered + * interesting to compute is + * + * @param singletonDiffs + * @param maxRawDiffsToSummarize + * @return + */ + private Map initialLeafSummaries(final List singletonDiffs, + final int maxRawDiffsToSummarize) { + Map summaries = new HashMap(); + + // create the initial set of differences + for ( final Difference d : singletonDiffs ) { + final String path = summarizedPath(d.getParts(), 1); + Difference sumDiff = new Difference(path, d.getMaster(), d.getTest()); + sumDiff.setCount(0); + addSummaryIfMissing(summaries, sumDiff); + + if ( maxRawDiffsToSummarize != -1 && summaries.size() > maxRawDiffsToSummarize) + return summaries; + } + + return summaries; + } + + protected List summarizedDifferencesOfPaths(final List singletonDiffs, + final boolean doPairwise, + final int maxRawDiffsToSummarize) { + final Map summaries = doPairwise + ? initialPairwiseSummaries(singletonDiffs, maxRawDiffsToSummarize) + : initialLeafSummaries(singletonDiffs, maxRawDiffsToSummarize); + // count differences for ( Difference diffPath : singletonDiffs ) { for ( Difference sumDiff : summaries.values() ) { @@ -235,14 +282,16 @@ public class DiffEngine { // now that we have a specific list of values we want to show, display them GATKReport report = new GATKReport(); final String tableName = "differences"; - report.addTable(tableName, "Summarized differences between the master and test files. See http://www.broadinstitute.org/gsa/wiki/index.php/DiffEngine for more information", false); - GATKReportTable table = report.getTable(tableName); - table.addPrimaryKey("Difference", true); - table.addColumn("NumberOfOccurrences", 0); - table.addColumn("ExampleDifference", 0); - for ( Difference diff : toShow ) { - table.set(diff.getPath(), "NumberOfOccurrences", diff.getCount()); - table.set(diff.getPath(), "ExampleDifference", diff.valueDiffString()); + report.addTable(tableName, "Summarized differences between the master and test files. See http://www.broadinstitute.org/gsa/wiki/index.php/DiffEngine for more information", 3); + final GATKReportTable table = report.getTable(tableName); + table.addColumn("Difference"); + table.addColumn("NumberOfOccurrences"); + table.addColumn("ExampleDifference"); + for ( final Difference diff : toShow ) { + final String key = diff.getPath(); + table.addRowID(key, true); + table.set(key, "NumberOfOccurrences", diff.getCount()); + table.set(key, "ExampleDifference", diff.valueDiffString()); } GATKReport output = new GATKReport(table); output.print(params.out); @@ -358,17 +407,26 @@ public class DiffEngine { } public static class SummaryReportParams { - PrintStream out = System.out; - int maxItemsToDisplay = 0; - int maxCountOneItems = 0; - int minSumDiffToShow = 0; + final PrintStream out; + final int maxItemsToDisplay; + final int maxCountOneItems; + final int minSumDiffToShow; + final int maxRawDiffsToSummarize; + final boolean doPairwise; boolean descending = true; - public SummaryReportParams(PrintStream out, int maxItemsToDisplay, int maxCountOneItems, int minSumDiffToShow) { + public SummaryReportParams(PrintStream out, + int maxItemsToDisplay, + int maxCountOneItems, + int minSumDiffToShow, + int maxRawDiffsToSummarize, + final boolean doPairwise) { this.out = out; this.maxItemsToDisplay = maxItemsToDisplay; this.maxCountOneItems = maxCountOneItems; this.minSumDiffToShow = minSumDiffToShow; + this.maxRawDiffsToSummarize = maxRawDiffsToSummarize; + this.doPairwise = doPairwise; } public void setDescending(boolean descending) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjectsWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjects.java similarity index 71% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjectsWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjects.java index 04437fdd1..a04c4f01b 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjectsWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjects.java @@ -25,6 +25,7 @@ package org.broadinstitute.sting.gatk.walkers.diffengine; import org.broadinstitute.sting.commandline.Argument; +import org.broadinstitute.sting.commandline.Input; import org.broadinstitute.sting.commandline.Output; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; @@ -111,26 +112,26 @@ import java.util.List; *

* *

-   [testng] path                                                             count
-   [testng] *.*.*.AC                                                         6
-   [testng] *.*.*.AF                                                         6
-   [testng] *.*.*.AN                                                         6
-   [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000000.AC  1
-   [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000000.AF  1
-   [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000000.AN  1
-   [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000117.AC  1
-   [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000117.AF  1
-   [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000117.AN  1
-   [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000211.AC  1
-   [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000211.AF  1
-   [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000211.AN  1
-   [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000598.AC  1
-
+ [testng] path count + [testng] *.*.*.AC 6 + [testng] *.*.*.AF 6 + [testng] *.*.*.AN 6 + [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000000.AC 1 + [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000000.AF 1 + [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000000.AN 1 + [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000117.AC 1 + [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000117.AF 1 + [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000117.AN 1 + [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000211.AC 1 + [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000211.AF 1 + [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000211.AN 1 + [testng] 64b991fd3850f83614518f7d71f0532f.integrationtest.20:10000598.AC 1 + * * @author Mark DePristo * @since 7/4/11 */ -public class DiffObjectsWalker extends RodWalker { +public class DiffObjects extends RodWalker { /** * Writes out a file of the DiffEngine format: * @@ -144,7 +145,7 @@ public class DiffObjectsWalker extends RodWalker { * files to do the comparison. Conceptually master is the original file contained the expected * results, but this doesn't currently have an impact on the calculations, but might in the future. */ - @Argument(fullName="master", shortName="m", doc="Master file: expected results", required=true) + @Input(fullName="master", shortName="m", doc="Master file: expected results", required=true) File masterFile; /** @@ -152,7 +153,7 @@ public class DiffObjectsWalker extends RodWalker { * files to do the comparison. Conceptually test is the derived file from master, but this * doesn't currently have an impact on the calculations, but might in the future. */ - @Argument(fullName="test", shortName="t", doc="Test file: new results to compare to the master file", required=true) + @Input(fullName="test", shortName="t", doc="Test file: new results to compare to the master file", required=true) File testFile; /** @@ -162,6 +163,12 @@ public class DiffObjectsWalker extends RodWalker { @Argument(fullName="maxObjectsToRead", shortName="motr", doc="Max. number of objects to read from the files. -1 [default] means unlimited", required=false) int MAX_OBJECTS_TO_READ = -1; + @Argument(fullName="maxRawDiffsToSummary", shortName="maxRawDiffsToSummary", doc="Max. number of objects to read from the files. -1 [default] means unlimited", required=false) + int maxRawDiffsToSummary = -1; + + @Argument(fullName="doPairwise", shortName="doPairwise", doc="If provided, we will compute the minimum pairwise differences to summary, which can be extremely expensive", required=false) + boolean doPairwise = false; + /** * The max number of differences to display when summarizing. For example, if there are 10M differences, but * maxDiffs is 10, then the comparison aborts after first ten summarized differences are shown. Note that @@ -195,11 +202,14 @@ public class DiffObjectsWalker extends RodWalker { @Argument(fullName="showItemizedDifferences", shortName="SID", doc="Should we enumerate all differences between the files?", required=false) boolean showItemizedDifferences = false; + @Argument(fullName="iterations", doc="Number of iterations to perform, should be 1 unless you are doing memory testing", required=false) + int iterations = 1; + DiffEngine diffEngine; @Override public void initialize() { - this.diffEngine = new DiffEngine(); + this.diffEngine = new DiffEngine(); } @Override @@ -219,27 +229,39 @@ public class DiffObjectsWalker extends RodWalker { @Override public void onTraversalDone(Integer sum) { - //out.printf("Reading master file %s%n", masterFile); - DiffElement master = diffEngine.createDiffableFromFile(masterFile, MAX_OBJECTS_TO_READ); - out.printf(" Read %d objects%n", master.size()); - //out.printf("Reading test file %s%n", testFile); - DiffElement test = diffEngine.createDiffableFromFile(testFile, MAX_OBJECTS_TO_READ); - out.printf(" Read %d objects%n", test.size()); + if ( iterations > 1 ) { + for ( int i = 0; i < iterations; i++ ) { + DiffEngine.SummaryReportParams params = new DiffEngine.SummaryReportParams(out, 20, 10, 0, -1, false); + boolean success = DiffEngine.simpleDiffFiles(masterFile, testFile, MAX_OBJECTS_TO_READ, params); + logger.info("Iteration " + i + " success " + success); + } + } else { + //out.printf("Reading master file %s%n", masterFile); + DiffElement master = diffEngine.createDiffableFromFile(masterFile, MAX_OBJECTS_TO_READ); + logger.info(String.format("Read %d objects", master.size())); + //out.printf("Reading test file %s%n", testFile); + DiffElement test = diffEngine.createDiffableFromFile(testFile, MAX_OBJECTS_TO_READ); + logger.info(String.format("Read %d objects", test.size())); // out.printf("Master diff objects%n"); // out.println(master.toString()); // out.printf("Test diff objects%n"); // out.println(test.toString()); - List diffs = diffEngine.diff(master, test); - if ( showItemizedDifferences ) { - out.printf("Itemized results%n"); - for ( Difference diff : diffs ) - out.printf("DIFF: %s%n", diff.toString()); - } + List diffs = diffEngine.diff(master, test); + logger.info(String.format("Done computing diff with %d differences found", diffs.size())); + if ( showItemizedDifferences ) { + out.printf("Itemized results%n"); + for ( Difference diff : diffs ) + out.printf("DIFF: %s%n", diff.toString()); + } - DiffEngine.SummaryReportParams params = new DiffEngine.SummaryReportParams(out, MAX_DIFFS, MAX_COUNT1_DIFFS, minCountForDiff); - params.setDescending(false); - diffEngine.reportSummarizedDifferences(diffs, params); + DiffEngine.SummaryReportParams params = new DiffEngine.SummaryReportParams(out, + MAX_DIFFS, MAX_COUNT1_DIFFS, minCountForDiff, + maxRawDiffsToSummary, doPairwise); + params.setDescending(false); + diffEngine.reportSummarizedDifferences(diffs, params); + logger.info(String.format("Done summarizing differences")); + } } -} \ No newline at end of file +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/GATKReportDiffableReader.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/GATKReportDiffableReader.java index 2fa566c09..480a1fc29 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/GATKReportDiffableReader.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/GATKReportDiffableReader.java @@ -68,17 +68,16 @@ public class GATKReportDiffableReader implements DiffableReader { tableRoot.add("Description", table.getTableDescription()); tableRoot.add("NumberOfRows", table.getNumRows()); - for (GATKReportColumn column : table.getColumns().values()) { + for ( GATKReportColumn column : table.getColumnInfo() ) { DiffNode columnRoot = DiffNode.empty(column.getColumnName(), tableRoot); columnRoot.add("Width", column.getColumnFormat().getWidth()); // NOTE: as the values are trimmed during parsing left/right alignment is not currently preserved - columnRoot.add("Displayable", column.isDisplayable()); + columnRoot.add("Displayable", true); - int n = 1; - for (Object elt : column.values()) { - String name = column.getColumnName() + n++; - columnRoot.add(name, elt.toString()); + for ( int i = 0; i < table.getNumRows(); i++ ) { + String name = column.getColumnName() + (i+1); + columnRoot.add(name, table.get(i, column.getColumnName()).toString()); } tableRoot.add(columnRoot); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/VCFDiffableReader.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/VCFDiffableReader.java index c9a6cb8f2..5726eeed9 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/VCFDiffableReader.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/VCFDiffableReader.java @@ -25,15 +25,15 @@ package org.broadinstitute.sting.gatk.walkers.diffengine; import org.apache.log4j.Logger; -import org.broad.tribble.readers.AsciiLineReader; -import org.broad.tribble.readers.LineReader; +import org.broad.tribble.AbstractFeatureReader; +import org.broad.tribble.FeatureReader; +import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.variantcontext.Genotype; import org.broadinstitute.sting.utils.variantcontext.VariantContext; -import java.io.File; -import java.io.FileInputStream; -import java.io.IOException; +import java.io.*; +import java.util.Iterator; import java.util.Map; @@ -56,17 +56,17 @@ public class VCFDiffableReader implements DiffableReader { DiffNode root = DiffNode.rooted(file.getName()); try { // read the version line from the file - LineReader lineReader = new AsciiLineReader(new FileInputStream(file)); - final String version = lineReader.readLine(); + BufferedReader br = new BufferedReader(new FileReader(file)); + final String version = br.readLine(); root.add("VERSION", version); - lineReader.close(); + br.close(); - lineReader = new AsciiLineReader(new FileInputStream(file)); - VCFCodec vcfCodec = new VCFCodec(); + final VCFCodec vcfCodec = new VCFCodec(); + vcfCodec.disableOnTheFlyModifications(); // must be read as state is stored in reader itself - // must be read as state is stored in reader itself - VCFHeader header = (VCFHeader)vcfCodec.readHeader(lineReader); - for ( VCFHeaderLine headerLine : header.getMetaData() ) { + FeatureReader reader = AbstractFeatureReader.getFeatureReader(file.getAbsolutePath(), vcfCodec, false); + VCFHeader header = (VCFHeader)reader.getHeader(); + for ( VCFHeaderLine headerLine : header.getMetaDataInInputOrder() ) { String key = headerLine.getKey(); if ( headerLine instanceof VCFIDHeaderLine) key += "_" + ((VCFIDHeaderLine) headerLine).getID(); @@ -76,14 +76,11 @@ public class VCFDiffableReader implements DiffableReader { root.add(key, headerLine.toString()); } - String line = lineReader.readLine(); int count = 0, nRecordsAtPos = 1; String prevName = ""; - while ( line != null ) { - if ( count++ > maxElementsToRead && maxElementsToRead != -1) - break; - - VariantContext vc = (VariantContext)vcfCodec.decode(line); + Iterator it = reader.iterator(); + while ( it.hasNext() ) { + VariantContext vc = it.next(); String name = vc.getChr() + ":" + vc.getStart(); if ( name.equals(prevName) ) { name += "_" + ++nRecordsAtPos; @@ -99,7 +96,9 @@ public class VCFDiffableReader implements DiffableReader { vcRoot.add("REF", vc.getReference()); vcRoot.add("ALT", vc.getAlternateAlleles()); vcRoot.add("QUAL", vc.hasLog10PError() ? vc.getLog10PError() * -10 : VCFConstants.MISSING_VALUE_v4); - vcRoot.add("FILTER", vc.getFilters()); + vcRoot.add("FILTER", ! vc.filtersWereApplied() // needs null to differentiate between PASS and . + ? VCFConstants.MISSING_VALUE_v4 + : ( vc.getFilters().isEmpty() ? VCFConstants.PASSES_FILTERS_v4 : vc.getFilters()) ); // add info fields for (Map.Entry attribute : vc.getAttributes().entrySet()) { @@ -110,9 +109,13 @@ public class VCFDiffableReader implements DiffableReader { for (Genotype g : vc.getGenotypes() ) { DiffNode gRoot = DiffNode.empty(g.getSampleName(), vcRoot); gRoot.add("GT", g.getGenotypeString()); - gRoot.add("GQ", g.hasLog10PError() ? g.getLog10PError() * -10 : VCFConstants.MISSING_VALUE_v4 ); + if ( g.hasGQ() ) gRoot.add("GQ", g.getGQ() ); + if ( g.hasDP() ) gRoot.add("DP", g.getDP() ); + if ( g.hasAD() ) gRoot.add("AD", Utils.join(",", g.getAD())); + if ( g.hasPL() ) gRoot.add("PL", Utils.join(",", g.getPL())); + if ( g.getFilters() != null ) gRoot.add("FT", g.getFilters()); - for (Map.Entry attribute : g.getAttributes().entrySet()) { + for (Map.Entry attribute : g.getExtendedAttributes().entrySet()) { if ( ! attribute.getKey().startsWith("_") ) gRoot.add(attribute.getKey(), attribute.getValue()); } @@ -121,10 +124,12 @@ public class VCFDiffableReader implements DiffableReader { } root.add(vcRoot); - line = lineReader.readLine(); + count += vcRoot.size(); + if ( count > maxElementsToRead && maxElementsToRead != -1) + break; } - lineReader.close(); + reader.close(); } catch ( IOException e ) { return null; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaAlternateReferenceWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaAlternateReference.java similarity index 98% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaAlternateReferenceWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaAlternateReference.java index 4e2c17bf6..0d390308e 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaAlternateReferenceWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaAlternateReference.java @@ -73,7 +73,7 @@ import java.util.List; @WalkerName("FastaAlternateReferenceMaker") @Reference(window=@Window(start=-1,stop=50)) @Requires(value={DataSource.REFERENCE}) -public class FastaAlternateReferenceWalker extends FastaReferenceWalker { +public class FastaAlternateReference extends FastaReference { /** * Variants from these input files are used by this tool to construct an alternate reference. diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaReferenceWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaReference.java similarity index 98% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaReferenceWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaReference.java index 7ae5c5c75..f1eb6d028 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaReferenceWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaReference.java @@ -67,7 +67,7 @@ import java.io.PrintStream; * */ @WalkerName("FastaReferenceMaker") -public class FastaReferenceWalker extends RefWalker, GenomeLoc> { +public class FastaReference extends RefWalker, GenomeLoc> { @Output PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaStatsWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaStats.java similarity index 87% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaStatsWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaStats.java index f5c5f909f..8a1af623e 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaStatsWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaStats.java @@ -37,10 +37,10 @@ import java.io.PrintStream; /** * Calculates basic statistics about the reference sequence itself */ -public class FastaStatsWalker extends RefWalker { +public class FastaStats extends RefWalker { @Output PrintStream out; - protected class FastaStats { + protected class FastaStatistics { long nBases = 0, nRegBases = 0; } @@ -50,19 +50,19 @@ public class FastaStatsWalker extends RefWalker { +public class VariantFiltration extends RodWalker { @ArgumentCollection protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); @@ -85,7 +88,7 @@ public class VariantFiltrationWalker extends RodWalker { public RodBinding mask; @Output(doc="File to which variants should be written", required=true) - protected VCFWriter writer = null; + protected VariantContextWriter writer = null; /** * VariantFiltration accepts any number of JEXL expressions (so you can have two named filters by using @@ -175,7 +178,7 @@ public class VariantFiltrationWalker extends RodWalker { hInfo.add(new VCFFilterHeaderLine(exp.name, exp.exp.toString())); if ( genotypeFilterExps.size() > 0 ) - hInfo.add(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_FILTER_KEY, 1, VCFHeaderLineType.String, "Genotype-level filter")); + hInfo.add(VCFStandardHeaderLines.getFormatLine(VCFConstants.GENOTYPE_FILTER_KEY)); if ( mask.isBound() ) { hInfo.add(new VCFFilterHeaderLine(MASK_NAME, "Overlaps a user-input mask")); @@ -296,13 +299,15 @@ public class VariantFiltrationWalker extends RodWalker { // for each genotype, check filters then create a new object for ( final Genotype g : vc.getGenotypes() ) { if ( g.isCalled() ) { - Set filters = new LinkedHashSet(g.getFilters()); + final List filters = new ArrayList(); + if ( g.isFiltered() ) filters.add(g.getFilters()); for ( VariantContextUtils.JexlVCMatchExp exp : genotypeFilterExps ) { if ( VariantContextUtils.match(vc, g, exp) ) filters.add(exp.name); } - genotypes.add(new Genotype(g.getSampleName(), g.getAlleles(), g.getLog10PError(), filters, g.getAttributes(), g.isPhased())); + + genotypes.add(new GenotypeBuilder(g).filters(filters).make()); } else { genotypes.add(g); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/AlleleFrequencyCalculationModel.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/AlleleFrequencyCalculationModel.java index be4ceae53..432bbd6d7 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/AlleleFrequencyCalculationModel.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/AlleleFrequencyCalculationModel.java @@ -34,6 +34,7 @@ import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.io.PrintStream; import java.util.ArrayList; +import java.util.Arrays; import java.util.List; @@ -51,17 +52,17 @@ public abstract class AlleleFrequencyCalculationModel implements Cloneable { protected int N; protected int MAX_ALTERNATE_ALLELES_TO_GENOTYPE; + protected boolean CAP_MAX_ALTERNATE_ALLELES_FOR_INDELS; protected Logger logger; protected PrintStream verboseWriter; - protected enum GenotypeType { AA, AB, BB } - protected static final double VALUE_NOT_CALCULATED = Double.NEGATIVE_INFINITY; protected AlleleFrequencyCalculationModel(final UnifiedArgumentCollection UAC, final int N, final Logger logger, final PrintStream verboseWriter) { this.N = N; this.MAX_ALTERNATE_ALLELES_TO_GENOTYPE = UAC.MAX_ALTERNATE_ALLELES; + this.CAP_MAX_ALTERNATE_ALLELES_FOR_INDELS = UAC.CAP_MAX_ALTERNATE_ALLELES_FOR_INDELS; this.logger = logger; this.verboseWriter = verboseWriter; } @@ -125,4 +126,83 @@ public abstract class AlleleFrequencyCalculationModel implements Cloneable { final List allelesToUse, final boolean assignGenotypes, final int ploidy); + + + // ------------------------------------------------------------------------------------- + // + // protected classes used to store exact model matrix columns + // + // ------------------------------------------------------------------------------------- + + protected static final int HOM_REF_INDEX = 0; // AA likelihoods are always first + + // a wrapper around the int array so that we can make it hashable + protected static final class ExactACcounts { + + protected final int[] counts; + private int hashcode = -1; + + public ExactACcounts(final int[] counts) { + this.counts = counts; + } + + public int[] getCounts() { + return counts; + } + + @Override + public boolean equals(Object obj) { + return (obj instanceof ExactACcounts) && Arrays.equals(counts, ((ExactACcounts) obj).counts); + } + + @Override + public int hashCode() { + if ( hashcode == -1 ) + hashcode = Arrays.hashCode(counts); + return hashcode; + } + + @Override + public String toString() { + StringBuffer sb = new StringBuffer(); + sb.append(counts[0]); + for ( int i = 1; i < counts.length; i++ ) { + sb.append("/"); + sb.append(counts[i]); + } + return sb.toString(); + } + } + + // This class represents a column in the Exact AC calculation matrix + protected static final class ExactACset { + + // the counts of the various alternate alleles which this column represents + final ExactACcounts ACcounts; + + // the column of the matrix + final double[] log10Likelihoods; + + int sum = -1; + + public ExactACset(final int size, final ExactACcounts ACcounts) { + this.ACcounts = ACcounts; + log10Likelihoods = new double[size]; + Arrays.fill(log10Likelihoods, Double.NEGATIVE_INFINITY); + } + + // sum of all the non-reference alleles + public int getACsum() { + if ( sum == -1 ) { + sum = 0; + for ( int count : ACcounts.getCounts() ) + sum += count; + } + return sum; + } + + public boolean equals(Object obj) { + return (obj instanceof ExactACset) && ACcounts.equals(((ExactACset)obj).ACcounts); + } + } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ConsensusAlleleCounter.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ConsensusAlleleCounter.java index e64a4f42d..cef09a913 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ConsensusAlleleCounter.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ConsensusAlleleCounter.java @@ -98,11 +98,9 @@ public class ConsensusAlleleCounter { for ( Map.Entry sample : contexts.entrySet() ) { final AlignmentContext context = AlignmentContextUtils.stratify(sample.getValue(), contextType); - if ( context.hasBasePileup() ) { - final ReadBackedPileup indelPileup = context.getBasePileup(); - insCount += indelPileup.getNumberOfInsertionsAfterThisElement(); - delCount += indelPileup.getNumberOfDeletionsAfterThisElement(); - } + final ReadBackedPileup indelPileup = context.getBasePileup(); + insCount += indelPileup.getNumberOfInsertionsAfterThisElement(); + delCount += indelPileup.getNumberOfDeletionsAfterThisElement(); } if ( insCount < minIndelCountForGenotyping && delCount < minIndelCountForGenotyping ) @@ -112,9 +110,6 @@ public class ConsensusAlleleCounter { // todo -- warning, can be duplicating expensive partition here AlignmentContext context = AlignmentContextUtils.stratify(sample.getValue(), contextType); - if ( !context.hasBasePileup() ) - continue; - final ReadBackedPileup indelPileup = context.getBasePileup(); final int nIndelReads = indelPileup.getNumberOfInsertionsAfterThisElement() + indelPileup.getNumberOfDeletionsAfterThisElement(); @@ -253,14 +248,14 @@ public class ConsensusAlleleCounter { stop = loc.getStart() + dLen; final byte[] refBases = Arrays.copyOfRange(ref.getBases(), startIdxInReference, startIdxInReference + dLen); - if (Allele.acceptableAlleleBases(refBases)) { + if (Allele.acceptableAlleleBases(refBases, false)) { refAllele = Allele.create(refBases, true); altAllele = Allele.create(Allele.NULL_ALLELE_STRING, false); } else continue; // don't go on with this allele if refBases are non-standard } else { // insertion case - if (Allele.acceptableAlleleBases(s)) { + if (Allele.acceptableAlleleBases(s, false)) { // don't allow N's in insertions refAllele = Allele.create(Allele.NULL_ALLELE_STRING, true); altAllele = Allele.create(s, false); stop = loc.getStart(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidGenotype.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidGenotype.java index 9ba565ad3..95b81e322 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidGenotype.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidGenotype.java @@ -27,16 +27,15 @@ package org.broadinstitute.sting.gatk.walkers.genotyper; import org.broadinstitute.sting.utils.BaseUtils; -@Deprecated public enum DiploidGenotype { AA ('A', 'A'), AC ('A', 'C'), - AG ('A', 'G'), - AT ('A', 'T'), CC ('C', 'C'), + AG ('A', 'G'), CG ('C', 'G'), - CT ('C', 'T'), GG ('G', 'G'), + AT ('A', 'T'), + CT ('C', 'T'), GT ('G', 'T'), TT ('T', 'T'); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidGenotypeWithCorrectAlleleOrdering.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidGenotypeWithCorrectAlleleOrdering.java deleted file mode 100755 index 83c499144..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidGenotypeWithCorrectAlleleOrdering.java +++ /dev/null @@ -1,125 +0,0 @@ -/* - * Copyright (c) 2010 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.gatk.walkers.genotyper; - -import org.broadinstitute.sting.utils.BaseUtils; - -public enum DiploidGenotypeWithCorrectAlleleOrdering { - AA ('A', 'A'), - AC ('A', 'C'), - CC ('C', 'C'), - AG ('A', 'G'), - CG ('C', 'G'), - GG ('G', 'G'), - AT ('A', 'T'), - CT ('C', 'T'), - GT ('G', 'T'), - TT ('T', 'T'); - - public byte base1, base2; - - @Deprecated - private DiploidGenotypeWithCorrectAlleleOrdering(char base1, char base2) { - this((byte)base1, (byte)base2); - } - - private DiploidGenotypeWithCorrectAlleleOrdering(byte base1, byte base2) { - this.base1 = base1; - this.base2 = base2; - } - - public boolean isHomRef(byte r) { - return isHom() && r == base1; - } - - public boolean isHomVar(byte r) { - return isHom() && r != base1; - } - - public boolean isHetRef(byte r) { - if ( base1 == r ) - return r != base2; - else - return base2 == r; - } - - public boolean isHom() { - return ! isHet(); - } - - public boolean isHet() { - return base1 != base2; - } - - /** - * create a diploid genotype, given a character to make into a hom genotype - * @param hom the character to turn into a hom genotype, i.e. if it is A, then returned will be AA - * @return the diploid genotype - */ - public static DiploidGenotypeWithCorrectAlleleOrdering createHomGenotype(byte hom) { - int index = BaseUtils.simpleBaseToBaseIndex(hom); - if ( index == -1 ) - throw new IllegalArgumentException(hom + " is not a valid base character"); - return conversionMatrix[index][index]; - } - - /** - * create a diploid genotype, given 2 chars which may not necessarily be ordered correctly - * @param base1 base1 - * @param base2 base2 - * @return the diploid genotype - */ - public static DiploidGenotypeWithCorrectAlleleOrdering createDiploidGenotype(byte base1, byte base2) { - int index1 = BaseUtils.simpleBaseToBaseIndex(base1); - if ( index1 == -1 ) - throw new IllegalArgumentException(base1 + " is not a valid base character"); - int index2 = BaseUtils.simpleBaseToBaseIndex(base2); - if ( index2 == -1 ) - throw new IllegalArgumentException(base2 + " is not a valid base character"); - return conversionMatrix[index1][index2]; - } - - /** - * create a diploid genotype, given 2 base indexes which may not necessarily be ordered correctly - * @param baseIndex1 base1 - * @param baseIndex2 base2 - * @return the diploid genotype - */ - public static DiploidGenotypeWithCorrectAlleleOrdering createDiploidGenotype(int baseIndex1, int baseIndex2) { - if ( baseIndex1 == -1 ) - throw new IllegalArgumentException(baseIndex1 + " does not represent a valid base character"); - if ( baseIndex2 == -1 ) - throw new IllegalArgumentException(baseIndex2 + " does not represent a valid base character"); - return conversionMatrix[baseIndex1][baseIndex2]; - } - - private static final DiploidGenotypeWithCorrectAlleleOrdering[][] conversionMatrix = { - { DiploidGenotypeWithCorrectAlleleOrdering.AA, DiploidGenotypeWithCorrectAlleleOrdering.AC, DiploidGenotypeWithCorrectAlleleOrdering.AG, DiploidGenotypeWithCorrectAlleleOrdering.AT }, - { DiploidGenotypeWithCorrectAlleleOrdering.AC, DiploidGenotypeWithCorrectAlleleOrdering.CC, DiploidGenotypeWithCorrectAlleleOrdering.CG, DiploidGenotypeWithCorrectAlleleOrdering.CT }, - { DiploidGenotypeWithCorrectAlleleOrdering.AG, DiploidGenotypeWithCorrectAlleleOrdering.CG, DiploidGenotypeWithCorrectAlleleOrdering.GG, DiploidGenotypeWithCorrectAlleleOrdering.GT }, - { DiploidGenotypeWithCorrectAlleleOrdering.AT, DiploidGenotypeWithCorrectAlleleOrdering.CT, DiploidGenotypeWithCorrectAlleleOrdering.GT, DiploidGenotypeWithCorrectAlleleOrdering.TT } - }; -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java index 76849a4dd..2870b6629 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java @@ -27,10 +27,10 @@ package org.broadinstitute.sting.gatk.walkers.genotyper; import net.sf.samtools.SAMUtils; import org.broadinstitute.sting.utils.BaseUtils; -import org.broadinstitute.sting.utils.fragments.FragmentCollection; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.fragments.FragmentCollection; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; @@ -70,8 +70,8 @@ import static java.lang.Math.pow; * From then on, you can call any of the add() routines to update the likelihoods and posteriors in the above * model. */ -@Deprecated public class DiploidSNPGenotypeLikelihoods implements Cloneable { + public final static double DEFAULT_PCR_ERROR_RATE = 1e-4; protected final static int FIXED_PLOIDY = 2; @@ -82,36 +82,20 @@ public class DiploidSNPGenotypeLikelihoods implements Cloneable { protected boolean VERBOSE = false; // - // The fundamental data arrays associated with a Genotype Likelhoods object + // The fundamental data arrays associated with a Genotype Likelihoods object // protected double[] log10Likelihoods = null; - protected double[] log10Posteriors = null; - - protected DiploidSNPGenotypePriors priors = null; // TODO: don't calculate this each time through protected double log10_PCR_error_3; protected double log10_1_minus_PCR_error; /** - * Create a new GenotypeLikelhoods object with flat priors for each diploid genotype + * Create a new GenotypeLikelhoods object with given PCR error rate for each diploid genotype * - */ - public DiploidSNPGenotypeLikelihoods() { - this.priors = new DiploidSNPGenotypePriors(); - log10_PCR_error_3 = log10(DEFAULT_PCR_ERROR_RATE) - log10_3; - log10_1_minus_PCR_error = log10(1.0 - DEFAULT_PCR_ERROR_RATE); - setToZero(); - } - - /** - * Create a new GenotypeLikelhoods object with given priors and PCR error rate for each diploid genotype - * - * @param priors priors * @param PCR_error_rate the PCR error rate */ - public DiploidSNPGenotypeLikelihoods(DiploidSNPGenotypePriors priors, double PCR_error_rate) { - this.priors = priors; + public DiploidSNPGenotypeLikelihoods(double PCR_error_rate) { log10_PCR_error_3 = log10(PCR_error_rate) - log10_3; log10_1_minus_PCR_error = log10(1.0 - PCR_error_rate); setToZero(); @@ -124,15 +108,12 @@ public class DiploidSNPGenotypeLikelihoods implements Cloneable { */ protected Object clone() throws CloneNotSupportedException { DiploidSNPGenotypeLikelihoods c = (DiploidSNPGenotypeLikelihoods)super.clone(); - c.priors = priors; c.log10Likelihoods = log10Likelihoods.clone(); - c.log10Posteriors = log10Posteriors.clone(); return c; } protected void setToZero() { log10Likelihoods = genotypeZeros.clone(); // likelihoods are all zeros - log10Posteriors = priors.getPriors().clone(); // posteriors are all the priors } /** @@ -143,102 +124,6 @@ public class DiploidSNPGenotypeLikelihoods implements Cloneable { return log10Likelihoods; } - /** - * Returns the likelihood associated with DiploidGenotype g - * @param g genotype - * @return log10 likelihood as a double - */ - public double getLikelihood(DiploidGenotype g) { - return getLikelihoods()[g.ordinal()]; - } - - /** - * Returns an array of posteriors for each genotype, indexed by DiploidGenotype.ordinal values(). - * - * @return raw log10 (not-normalized posteriors) as a double array - */ - public double[] getPosteriors() { - return log10Posteriors; - } - - /** - * Returns the posterior associated with DiploidGenotype g - * @param g genotpe - * @return raw log10 (not-normalized posteror) as a double - */ - public double getPosterior(DiploidGenotype g) { - return getPosteriors()[g.ordinal()]; - } - - - /** - * Returns an array of posteriors for each genotype, indexed by DiploidGenotype.ordinal values(). - * - * @return normalized posterors as a double array - */ - public double[] getNormalizedPosteriors() { - double[] normalized = new double[log10Posteriors.length]; - double sum = 0.0; - - // for precision purposes, we need to add (or really subtract, since everything is negative) - // the largest posterior value from all entries so that numbers don't get too small - double maxValue = log10Posteriors[0]; - for (int i = 1; i < log10Posteriors.length; i++) { - if ( maxValue < log10Posteriors[i] ) - maxValue = log10Posteriors[i]; - } - - // collect the posteriors - for ( DiploidGenotype g : DiploidGenotype.values() ) { - double posterior = Math.pow(10, getPosterior(g) - maxValue); - normalized[g.ordinal()] = posterior; - sum += posterior; - } - - // normalize - for (int i = 0; i < normalized.length; i++) - normalized[i] /= sum; - - return normalized; - } - - - - public DiploidSNPGenotypePriors getPriorObject() { - return priors; - } - - /** - * Returns an array of priors for each genotype, indexed by DiploidGenotype.ordinal values(). - * - * @return log10 prior as a double array - */ - public double[] getPriors() { - return priors.getPriors(); - } - - /** - * Sets the priors - * @param priors priors - */ - public void setPriors(DiploidSNPGenotypePriors priors) { - this.priors = priors; - log10Posteriors = genotypeZeros.clone(); - for ( DiploidGenotype g : DiploidGenotype.values() ) { - int i = g.ordinal(); - log10Posteriors[i] = priors.getPriors()[i] + log10Likelihoods[i]; - } - } - - /** - * Returns the prior associated with DiploidGenotype g - * @param g genotype - * @return log10 prior as a double - */ - public double getPrior(DiploidGenotype g) { - return getPriors()[g.ordinal()]; - } - // ------------------------------------------------------------------------------------- // // add() routines. These are the workhorse routines for calculating the overall genotype @@ -316,13 +201,12 @@ public class DiploidSNPGenotypeLikelihoods implements Cloneable { /** * - * @param obsBase1 - * @param qual1 - * @param obsBase2 - * @param qual2 can be 0, indicating no second base was observed for this fragment - * @param nObs The number of times this quad of values was seen. Generally 1, but reduced reads - * can have nObs > 1 for synthetic reads - * @return + * @param obsBase1 first observed base + * @param qual1 base qual of first observed base + * @param obsBase2 second observed base + * @param qual2 base qual of second observed base; can be 0, indicating no second base was observed for this fragment + * @param nObs the number of times this quad of values was seen. Generally 1, but reduced reads can have nObs > 1 for synthetic reads + * @return 0 if the base is bad, 1 otherwise */ private int add(byte obsBase1, byte qual1, byte obsBase2, byte qual2, int nObs) { // TODO-- Right now we assume that there are at most 2 reads per fragment. This assumption is fine @@ -346,7 +230,6 @@ public class DiploidSNPGenotypeLikelihoods implements Cloneable { for ( DiploidGenotype g : DiploidGenotype.values() ) { double likelihood = likelihoods[g.ordinal()]; log10Likelihoods[g.ordinal()] += likelihood * nObs; - log10Posteriors[g.ordinal()] += likelihood * nObs; } return 1; @@ -419,16 +302,15 @@ public class DiploidSNPGenotypeLikelihoods implements Cloneable { double p_base = 0.0; p_base += pow(10, log10FourBaseLikelihoods[BaseUtils.simpleBaseToBaseIndex(g.base1)] - ploidyAdjustment); p_base += pow(10, log10FourBaseLikelihoods[BaseUtils.simpleBaseToBaseIndex(g.base2)] - ploidyAdjustment); - double likelihood = log10(p_base); + final double likelihood = log10(p_base); gl.log10Likelihoods[g.ordinal()] += likelihood; - gl.log10Posteriors[g.ordinal()] += likelihood; } if ( VERBOSE ) { for ( DiploidGenotype g : DiploidGenotype.values() ) { System.out.printf("%s\t", g); } System.out.println(); - for ( DiploidGenotype g : DiploidGenotype.values() ) { System.out.printf("%.2f\t", gl.log10Likelihoods[g.ordinal()]); } + for ( DiploidGenotype g : DiploidGenotype.values() ) { System.out.printf("%.2f\t", gl.log10Likelihoods[g.ordinal()]); } System.out.println(); } @@ -508,11 +390,11 @@ public class DiploidSNPGenotypeLikelihoods implements Cloneable { * likelihoods for a pileup element. May return 0 to indicate that the observation is bad, and may * cap the quality score by the mapping quality of the read itself. * - * @param p - * @param ignoreBadBases - * @param capBaseQualsAtMappingQual - * @param minBaseQual - * @return + * @param p Pileup element + * @param ignoreBadBases Should we ignore bad bases? + * @param capBaseQualsAtMappingQual Should we cap the base qualities at the mapping quality of the read? + * @param minBaseQual Minimum allowed base quality + * @return the actual base quality to use */ private static byte qualToUse(PileupElement p, boolean ignoreBadBases, boolean capBaseQualsAtMappingQual, int minBaseQual) { if ( ignoreBadBases && !BaseUtils.isRegularBase( p.getBase() ) ) @@ -568,16 +450,12 @@ public class DiploidSNPGenotypeLikelihoods implements Cloneable { public boolean validate(boolean throwException) { try { - priors.validate(throwException); - for ( DiploidGenotype g : DiploidGenotype.values() ) { String bad = null; int i = g.ordinal(); if ( ! MathUtils.wellFormedDouble(log10Likelihoods[i]) || ! MathUtils.isNegativeOrZero(log10Likelihoods[i]) ) { bad = String.format("Likelihood %f is badly formed", log10Likelihoods[i]); - } else if ( ! MathUtils.wellFormedDouble(log10Posteriors[i]) || ! MathUtils.isNegativeOrZero(log10Posteriors[i]) ) { - bad = String.format("Posterior %f is badly formed", log10Posteriors[i]); } if ( bad != null ) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering.java deleted file mode 100755 index 5d6cf9f7d..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering.java +++ /dev/null @@ -1,489 +0,0 @@ -/* - * Copyright (c) 2010. - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.gatk.walkers.genotyper; - -import net.sf.samtools.SAMUtils; -import org.broadinstitute.sting.utils.BaseUtils; -import org.broadinstitute.sting.utils.MathUtils; -import org.broadinstitute.sting.utils.QualityUtils; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.fragments.FragmentCollection; -import org.broadinstitute.sting.utils.pileup.PileupElement; -import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; - -import java.util.List; - -import static java.lang.Math.log10; -import static java.lang.Math.pow; - -/** - * Stable, error checking version of the Bayesian genotyper. Useful for calculating the likelihoods, priors, - * and posteriors given a pile of bases and quality scores - * - * Suppose we have bases b1, b2, ..., bN with qualities scores q1, q2, ..., qN. This object - * calculates: - * - * P(G | D) = P(G) * P(D | G) - * - * where - * - * P(D | G) = sum_i log10 P(bi | G) - * - * and - * - * P(bi | G) = 1 - P(error | q1) if bi is in G - * = P(error | q1) / 3 if bi is not in G - * - * for homozygous genotypes and for heterozygous genotypes: - * - * P(bi | G) = 1 - P(error | q1) / 2 + P(error | q1) / 6 if bi is in G - * = P(error | q1) / 3 if bi is not in G - * - * for each of the 10 unique diploid genotypes AA, AC, AG, .., TT - * - * Everything is stored as arrays indexed by DiploidGenotype.ordinal() values in log10 space. - * - * The priors contain the relative probabilities of each genotype, and must be provided at object creation. - * From then on, you can call any of the add() routines to update the likelihoods and posteriors in the above - * model. - */ -public class DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering implements Cloneable { - - public final static double DEFAULT_PCR_ERROR_RATE = 1e-4; - - protected final static int FIXED_PLOIDY = 2; - protected final static int MAX_PLOIDY = FIXED_PLOIDY + 1; - protected final static double ploidyAdjustment = log10(FIXED_PLOIDY); - protected final static double log10_3 = log10(3.0); - - protected boolean VERBOSE = false; - - // - // The fundamental data arrays associated with a Genotype Likelihoods object - // - protected double[] log10Likelihoods = null; - - // TODO: don't calculate this each time through - protected double log10_PCR_error_3; - protected double log10_1_minus_PCR_error; - - /** - * Create a new GenotypeLikelhoods object with given PCR error rate for each diploid genotype - * - * @param PCR_error_rate the PCR error rate - */ - public DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering(double PCR_error_rate) { - log10_PCR_error_3 = log10(PCR_error_rate) - log10_3; - log10_1_minus_PCR_error = log10(1.0 - PCR_error_rate); - setToZero(); - } - - /** - * Cloning of the object - * @return clone - * @throws CloneNotSupportedException - */ - protected Object clone() throws CloneNotSupportedException { - DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering c = (DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering)super.clone(); - c.log10Likelihoods = log10Likelihoods.clone(); - return c; - } - - protected void setToZero() { - log10Likelihoods = genotypeZeros.clone(); // likelihoods are all zeros - } - - /** - * Returns an array of log10 likelihoods for each genotype, indexed by DiploidGenotype.ordinal values() - * @return likelihoods array - */ - public double[] getLikelihoods() { - return log10Likelihoods; - } - - // ------------------------------------------------------------------------------------- - // - // add() routines. These are the workhorse routines for calculating the overall genotype - // likelihoods given observed bases and reads. Includes high-level operators all the - // way down to single base and qual functions. - // - // ------------------------------------------------------------------------------------- - - /** - * Updates likelihoods and posteriors to reflect the additional observations contained within the - * read-based pileup up by calling add(observedBase, qualityScore) for each base / qual in the - * pileup - * - * @param pileup read pileup - * @param ignoreBadBases should we ignore bad bases? - * @param capBaseQualsAtMappingQual should we cap a base's quality by its read's mapping quality? - * @param minBaseQual the minimum base quality at which to consider a base valid - * @return the number of good bases found in the pileup - */ - public int add(ReadBackedPileup pileup, boolean ignoreBadBases, boolean capBaseQualsAtMappingQual, int minBaseQual) { - int n = 0; - - // for each fragment, add to the likelihoods - FragmentCollection fpile = pileup.toFragments(); - - for ( PileupElement p : fpile.getSingletonReads() ) - n += add(p, ignoreBadBases, capBaseQualsAtMappingQual, minBaseQual); - - for ( List overlappingPair : fpile.getOverlappingPairs() ) - n += add(overlappingPair, ignoreBadBases, capBaseQualsAtMappingQual, minBaseQual); - - return n; - } - - public int add(PileupElement elt, boolean ignoreBadBases, boolean capBaseQualsAtMappingQual, int minBaseQual) { - byte obsBase = elt.getBase(); - byte qual = qualToUse(elt, ignoreBadBases, capBaseQualsAtMappingQual, minBaseQual); - if ( qual == 0 ) - return 0; - - if ( elt.getRead().isReducedRead() ) { - // reduced read representation - if ( BaseUtils.isRegularBase( obsBase )) { - int representativeCount = elt.getRepresentativeCount(); - add(obsBase, qual, (byte)0, (byte)0, representativeCount); // fast calculation of n identical likelihoods - return representativeCount; // we added nObs bases here - } - - // odd bases or deletions => don't use them - return 0; - } - - return add(obsBase, qual, (byte)0, (byte)0, 1); - } - - public int add(List overlappingPair, boolean ignoreBadBases, boolean capBaseQualsAtMappingQual, int minBaseQual) { - final PileupElement p1 = overlappingPair.get(0); - final PileupElement p2 = overlappingPair.get(1); - - final byte observedBase1 = p1.getBase(); - final byte qualityScore1 = qualToUse(p1, ignoreBadBases, capBaseQualsAtMappingQual, minBaseQual); - final byte observedBase2 = p2.getBase(); - final byte qualityScore2 = qualToUse(p2, ignoreBadBases, capBaseQualsAtMappingQual, minBaseQual); - - if ( qualityScore1 == 0 ) { - if ( qualityScore2 == 0 ) // abort early if we didn't see any good bases - return 0; - else { - return add(observedBase2, qualityScore2, (byte)0, (byte)0); - } - } else { - return add(observedBase1, qualityScore1, observedBase2, qualityScore2); - } - } - - /** - * - * @param obsBase1 first observed base - * @param qual1 base qual of first observed base - * @param obsBase2 second observed base - * @param qual2 base qual of second observed base; can be 0, indicating no second base was observed for this fragment - * @param nObs the number of times this quad of values was seen. Generally 1, but reduced reads can have nObs > 1 for synthetic reads - * @return 0 if the base is bad, 1 otherwise - */ - private int add(byte obsBase1, byte qual1, byte obsBase2, byte qual2, int nObs) { - // TODO-- Right now we assume that there are at most 2 reads per fragment. This assumption is fine - // TODO-- given the current state of next-gen sequencing, but may need to be fixed in the future. - // TODO-- However, when that happens, we'll need to be a lot smarter about the caching we do here. - - // Just look up the cached result if it's available, or compute and store it - DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering gl; - if ( ! inCache(obsBase1, qual1, obsBase2, qual2, FIXED_PLOIDY) ) { - gl = calculateCachedGenotypeLikelihoods(obsBase1, qual1, obsBase2, qual2, FIXED_PLOIDY); - } else { - gl = getCachedGenotypeLikelihoods(obsBase1, qual1, obsBase2, qual2, FIXED_PLOIDY); - } - - // for bad bases, there are no likelihoods - if ( gl == null ) - return 0; - - double[] likelihoods = gl.getLikelihoods(); - - for ( DiploidGenotypeWithCorrectAlleleOrdering g : DiploidGenotypeWithCorrectAlleleOrdering.values() ) { - double likelihood = likelihoods[g.ordinal()]; - log10Likelihoods[g.ordinal()] += likelihood * nObs; - } - - return 1; - } - - private int add(byte obsBase1, byte qual1, byte obsBase2, byte qual2) { - return add(obsBase1, qual1, obsBase2, qual2, 1); - } - - // ------------------------------------------------------------------------------------- - // - // Dealing with the cache routines - // - // ------------------------------------------------------------------------------------- - - static DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering[][][][][] CACHE = new DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering[BaseUtils.BASES.length][QualityUtils.MAX_QUAL_SCORE+1][BaseUtils.BASES.length+1][QualityUtils.MAX_QUAL_SCORE+1][MAX_PLOIDY]; - - protected boolean inCache(byte observedBase1, byte qualityScore1, byte observedBase2, byte qualityScore2, int ploidy) { - return getCache(CACHE, observedBase1, qualityScore1, observedBase2, qualityScore2, ploidy) != null; - } - - protected DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering getCachedGenotypeLikelihoods(byte observedBase1, byte qualityScore1, byte observedBase2, byte qualityScore2, int ploidy) { - DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering gl = getCache(CACHE, observedBase1, qualityScore1, observedBase2, qualityScore2, ploidy); - if ( gl == null ) - throw new RuntimeException(String.format("BUG: trying to fetch an unset cached genotype likelihood at base1=%c, qual1=%d, base2=%c, qual2=%d, ploidy=%d", - observedBase1, qualityScore1, observedBase2, qualityScore2, ploidy)); - return gl; - } - - protected DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering calculateCachedGenotypeLikelihoods(byte observedBase1, byte qualityScore1, byte observedBase2, byte qualityScore2, int ploidy) { - DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering gl = calculateGenotypeLikelihoods(observedBase1, qualityScore1, observedBase2, qualityScore2); - setCache(CACHE, observedBase1, qualityScore1, observedBase2, qualityScore2, ploidy, gl); - return gl; - } - - protected void setCache( DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering[][][][][] cache, - byte observedBase1, byte qualityScore1, byte observedBase2, byte qualityScore2, int ploidy, - DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering val ) { - int i = BaseUtils.simpleBaseToBaseIndex(observedBase1); - int j = qualityScore1; - int k = qualityScore2 != 0 ? BaseUtils.simpleBaseToBaseIndex(observedBase2) : BaseUtils.BASES.length; - int l = qualityScore2; - int m = ploidy; - - cache[i][j][k][l][m] = val; - } - - protected DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering getCache(DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering[][][][][] cache, - byte observedBase1, byte qualityScore1, byte observedBase2, byte qualityScore2, int ploidy) { - int i = BaseUtils.simpleBaseToBaseIndex(observedBase1); - int j = qualityScore1; - int k = qualityScore2 != 0 ? BaseUtils.simpleBaseToBaseIndex(observedBase2) : BaseUtils.BASES.length; - int l = qualityScore2; - int m = ploidy; - return cache[i][j][k][l][m]; - } - - protected DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering calculateGenotypeLikelihoods(byte observedBase1, byte qualityScore1, byte observedBase2, byte qualityScore2) { - double[] log10FourBaseLikelihoods = computeLog10Likelihoods(observedBase1, qualityScore1, observedBase2, qualityScore2); - - try { - - DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering gl = (DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering)this.clone(); - gl.setToZero(); - - // we need to adjust for ploidy. We take the raw p(obs | chrom) / ploidy, which is -log10(ploidy) in log space - for ( DiploidGenotypeWithCorrectAlleleOrdering g : DiploidGenotypeWithCorrectAlleleOrdering.values() ) { - - // todo assumes ploidy is 2 -- should be generalized. Obviously the below code can be turned into a loop - double p_base = 0.0; - p_base += pow(10, log10FourBaseLikelihoods[BaseUtils.simpleBaseToBaseIndex(g.base1)] - ploidyAdjustment); - p_base += pow(10, log10FourBaseLikelihoods[BaseUtils.simpleBaseToBaseIndex(g.base2)] - ploidyAdjustment); - - final double likelihood = log10(p_base); - gl.log10Likelihoods[g.ordinal()] += likelihood; - } - - if ( VERBOSE ) { - for ( DiploidGenotypeWithCorrectAlleleOrdering g : DiploidGenotypeWithCorrectAlleleOrdering.values() ) { System.out.printf("%s\t", g); } - System.out.println(); - for ( DiploidGenotypeWithCorrectAlleleOrdering g : DiploidGenotypeWithCorrectAlleleOrdering.values() ) { System.out.printf("%.2f\t", gl.log10Likelihoods[g.ordinal()]); } - System.out.println(); - } - - return gl; - - } catch ( CloneNotSupportedException e ) { - throw new RuntimeException(e); - } - } - - /** - * Updates likelihoods and posteriors to reflect an additional observation of observedBase with - * qualityScore. - * - * @param observedBase1 the base observed on the 1st read of the fragment - * @param qualityScore1 the qual of the base on the 1st read of the fragment, or zero if NA - * @param observedBase2 the base observed on the 2nd read of the fragment - * @param qualityScore2 the qual of the base on the 2nd read of the fragment, or zero if NA - * @return likelihoods for this observation or null if the base was not considered good enough to add to the likelihoods (Q0 or 'N', for example) - */ - protected double[] computeLog10Likelihoods(byte observedBase1, byte qualityScore1, byte observedBase2, byte qualityScore2) { - double[] log10FourBaseLikelihoods = baseZeros.clone(); - - for ( byte trueBase : BaseUtils.BASES ) { - double likelihood = 0.0; - - for ( byte fragmentBase : BaseUtils.BASES ) { - double log10FragmentLikelihood = (trueBase == fragmentBase ? log10_1_minus_PCR_error : log10_PCR_error_3); - if ( qualityScore1 != 0 ) { - log10FragmentLikelihood += log10PofObservingBaseGivenChromosome(observedBase1, fragmentBase, qualityScore1); - } - if ( qualityScore2 != 0 ) { - log10FragmentLikelihood += log10PofObservingBaseGivenChromosome(observedBase2, fragmentBase, qualityScore2); - } - - //if ( VERBOSE ) { - // System.out.printf(" L(%c | b=%s, Q=%d) = %f / %f%n", - // observedBase, trueBase, qualityScore, pow(10,likelihood) * 100, likelihood); - //} - - likelihood += pow(10, log10FragmentLikelihood); - } - - log10FourBaseLikelihoods[BaseUtils.simpleBaseToBaseIndex(trueBase)] = log10(likelihood); - } - - return log10FourBaseLikelihoods; - } - - /** - * - * @param observedBase observed base - * @param chromBase target base - * @param qual base quality - * @return log10 likelihood - */ - protected double log10PofObservingBaseGivenChromosome(byte observedBase, byte chromBase, byte qual) { - - double logP; - - if ( observedBase == chromBase ) { - // the base is consistent with the chromosome -- it's 1 - e - //logP = oneMinusData[qual]; - double e = pow(10, (qual / -10.0)); - logP = log10(1.0 - e); - } else { - // the base is inconsistent with the chromosome -- it's e * P(chromBase | observedBase is an error) - logP = qual / -10.0 + (-log10_3); - } - - //System.out.printf("%c %c %d => %f%n", observedBase, chromBase, qual, logP); - return logP; - } - - /** - * Helper function that returns the phred-scaled base quality score we should use for calculating - * likelihoods for a pileup element. May return 0 to indicate that the observation is bad, and may - * cap the quality score by the mapping quality of the read itself. - * - * @param p Pileup element - * @param ignoreBadBases Should we ignore bad bases? - * @param capBaseQualsAtMappingQual Should we cap the base qualities at the mapping quality of the read? - * @param minBaseQual Minimum allowed base quality - * @return the actual base quality to use - */ - private static byte qualToUse(PileupElement p, boolean ignoreBadBases, boolean capBaseQualsAtMappingQual, int minBaseQual) { - if ( ignoreBadBases && !BaseUtils.isRegularBase( p.getBase() ) ) - return 0; - - byte qual = p.getQual(); - - if ( qual > SAMUtils.MAX_PHRED_SCORE ) - throw new UserException.MalformedBAM(p.getRead(), String.format("the maximum allowed quality score is %d, but a quality of %d was observed in read %s. Perhaps your BAM incorrectly encodes the quality scores in Sanger format; see http://en.wikipedia.org/wiki/FASTQ_format for more details", SAMUtils.MAX_PHRED_SCORE, qual, p.getRead().getReadName())); - if ( capBaseQualsAtMappingQual ) - qual = (byte)Math.min((int)qual, p.getMappingQual()); - if ( (int)qual < minBaseQual ) - qual = (byte)0; - - return qual; - } - - // ----------------------------------------------------------------------------------------------------------------- - // - // - // helper routines - // - // - // ----------------------------------------------------------------------------------------------------------------- - - /** - * Return a string representation of this object in a moderately usable form - * - * @return string representation - */ - public String toString() { - double sum = 0; - StringBuilder s = new StringBuilder(); - for (DiploidGenotypeWithCorrectAlleleOrdering g : DiploidGenotypeWithCorrectAlleleOrdering.values()) { - s.append(String.format("%s %.10f ", g, log10Likelihoods[g.ordinal()])); - sum += Math.pow(10,log10Likelihoods[g.ordinal()]); - } - s.append(String.format(" %f", sum)); - return s.toString(); - } - - // ----------------------------------------------------------------------------------------------------------------- - // - // - // Validation routines - // - // - // ----------------------------------------------------------------------------------------------------------------- - - public boolean validate() { - return validate(true); - } - - public boolean validate(boolean throwException) { - try { - for ( DiploidGenotypeWithCorrectAlleleOrdering g : DiploidGenotypeWithCorrectAlleleOrdering.values() ) { - String bad = null; - - int i = g.ordinal(); - if ( ! MathUtils.wellFormedDouble(log10Likelihoods[i]) || ! MathUtils.isNegativeOrZero(log10Likelihoods[i]) ) { - bad = String.format("Likelihood %f is badly formed", log10Likelihoods[i]); - } - - if ( bad != null ) { - throw new IllegalStateException(String.format("At %s: %s", g.toString(), bad)); - } - } - } catch ( IllegalStateException e ) { - if ( throwException ) - throw new RuntimeException(e); - else - return false; - } - - return true; - } - - // - // Constant static data - // - private final static double[] genotypeZeros = new double[DiploidGenotypeWithCorrectAlleleOrdering.values().length]; - private final static double[] baseZeros = new double[BaseUtils.BASES.length]; - - static { - for ( DiploidGenotypeWithCorrectAlleleOrdering g : DiploidGenotypeWithCorrectAlleleOrdering.values() ) { - genotypeZeros[g.ordinal()] = 0.0; - } - for ( byte base : BaseUtils.BASES ) { - baseZeros[BaseUtils.simpleBaseToBaseIndex(base)] = 0.0; - } - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypePriors.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypePriors.java deleted file mode 100755 index 86079b6e6..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypePriors.java +++ /dev/null @@ -1,257 +0,0 @@ -/* - * Copyright (c) 2010. - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.gatk.walkers.genotyper; - -import org.broadinstitute.sting.utils.MathUtils; - -import java.util.Arrays; - -@Deprecated -public class DiploidSNPGenotypePriors implements GenotypePriors { - // -------------------------------------------------------------------------------------------------------------- - // - // Constants and static information - // - // -------------------------------------------------------------------------------------------------------------- - public static final double HUMAN_HETEROZYGOSITY = 1e-3; - public static final double CEU_HETEROZYGOSITY = 1e-3; - public static final double YRI_HETEROZYGOSITY = 1.0 / 850; - - /** - * Default value of the prob of seeing a reference error. Used to calculation the - * chance of seeing a true B/C het when the reference is A, which we assume is the product - * of the ref error rate and the het. Default value is Q60 - */ - public static final double PROB_OF_REFERENCE_ERROR = 1e-6; // the reference is - - private final static double[] flatPriors = new double[DiploidGenotype.values().length]; - - // -------------------------------------------------------------------------------------------------------------- - // - // Diploid priors - // - // -------------------------------------------------------------------------------------------------------------- - private double[] priors = null; - - // todo -- fix me when this issue is resolved - public static final boolean requirePriorSumToOne = false; - - /** - * Create a new DiploidGenotypePriors object with flat priors for each diploid genotype - */ - public DiploidSNPGenotypePriors() { - priors = flatPriors.clone(); - } - - /** - * Create a new GenotypeLikelihoods object with priors for a diploid with heterozygosity and reference - * base ref - * - * @param ref - * @param heterozygosity - * @param probOfTriStateGenotype The prob of seeing a true B/C het when the reference is A - */ - public DiploidSNPGenotypePriors(byte ref, double heterozygosity, double probOfTriStateGenotype) { - priors = getReferencePolarizedPriors(ref, heterozygosity, probOfTriStateGenotype); - } - - /** - * Create a new Genotypelike Likelhoods's object with priors (in log10 space) for each of the DiploteGenotypes - * - * @param log10Priors - */ - public DiploidSNPGenotypePriors(double[] log10Priors) { - priors = log10Priors.clone(); - } - - /** - * Returns an array of priors for each genotype, indexed by DiploidGenotype.ordinal values(). - * - * @return log10 prior as a double array - */ - public double[] getPriors() { - return priors; - } - - /** - * Returns the prior associated with DiploidGenotype g - * @param g - * @return log10 prior as a double - */ - public double getPrior(DiploidGenotype g) { - return getPriors()[g.ordinal()]; - } - - public double getHeterozygosity() { return HUMAN_HETEROZYGOSITY; } - - public boolean validate(boolean throwException) { - try { - if ( requirePriorSumToOne && MathUtils.compareDoubles(MathUtils.sumLog10(priors), 1.0) != 0 ) { - throw new IllegalStateException(String.format("Priors don't sum to 1: sum=%f %s", MathUtils.sumLog10(priors), Arrays.toString(priors))); - } - - for ( DiploidGenotype g : DiploidGenotype.values() ) { - int i = g.ordinal(); - if ( ! MathUtils.wellFormedDouble(priors[i]) || ! MathUtils.isNegativeOrZero(priors[i]) ) { - String bad = String.format("Prior %f is badly formed %b", priors[i], MathUtils.isNegativeOrZero(priors[i])); - throw new IllegalStateException(String.format("At %s: %s", g.toString(), bad)); - } - } - } catch ( IllegalStateException e ) { - if ( throwException ) - throw new RuntimeException(e); - else - return false; - } - - return true; - } - - // -------------------------------------------------------------------------------------------------------------- - // - // Static functionality - // - // -------------------------------------------------------------------------------------------------------------- - - /** - * Returns homozygous-reference, heterozygous, and homozygous-non-ref probabilities given a heterozygosity - * value, as elements 0, 1, and 2 of a double[], respectively - * - * @param h the heterozygosity [probability of a base being heterozygous] - */ - @Deprecated - public static double[] heterozygosity2DiploidProbabilities(double h) { - double[] pdbls = new double[3]; - - pdbls[0] = heterozygosity2HomRefProbability(h); - pdbls[1] = heterozygosity2HetProbability(h); - pdbls[2] = heterozygosity2HomVarProbability(h); - return pdbls; - } - - /** - * - * @param h - * @return - */ - public static double heterozygosity2HomRefProbability(double h) { - if (MathUtils.isNegative(h)) { - throw new RuntimeException(String.format("Heterozygous value is bad %f", h)); - } - - double v = 1.0 - (3.0 * h / 2.0); - if (MathUtils.isNegative(v)) { - throw new RuntimeException(String.format("Heterozygous value is bad %f", h)); - } - - return v; - } - - public static double heterozygosity2HetProbability(double h) { - if (MathUtils.isNegative(h)) { - throw new RuntimeException(String.format("Heterozygous value is bad %f", h)); - } - - return h; - } - - public static double heterozygosity2HomVarProbability(double h) { - if (MathUtils.isNegative(h)) { - throw new RuntimeException(String.format("Heterozygous value is bad %f", h)); - } - - return h / 2.0; - } - - - /** - * Takes reference base, and three priors for hom-ref, het, hom-var, and fills in the priors vector - * appropriately. - * - * Suppose A is the reference base, and we are given the probability of being hom-ref, het, and hom-var, - * and that pTriSateGenotype is the true probability of observing reference A and a true genotype of B/C - * then this sets the priors to: - * - * AA = hom-ref - * AC = AG = AT = (het - pTriStateGenotype) / 3 - * CC = GG = TT = hom-var / 3 - * CG = CT = GT = pTriStateGenotype / 3 - * - * So that we get: - * - * hom-ref + 3 * (het - pTriStateGenotype) / 3 + 3 * hom-var / 3 + 3 * pTriStateGenotype - * hom-ref + het - pTriStateGenotype + hom-var + pTriStateGenotype - * hom-ref + het + hom-var - * = 1 - * - * @param ref - * @param heterozyosity - * @param pRefError - */ - public static double[] getReferencePolarizedPriors(byte ref, double heterozyosity, double pRefError ) { - if ( ! MathUtils.isBounded(pRefError, 0.0, 0.01) ) { - throw new RuntimeException(String.format("BUG: p Reference error is out of bounds (0.0 - 0.01) is allow range %f", pRefError)); - } - - double pTriStateGenotype = heterozyosity * pRefError; -// if ( pTriStateGenotype >= heterozyosity ) { -// throw new RuntimeException(String.format("p Tristate genotype %f is greater than the heterozygosity %f", pTriStateGenotype, heterozyosity)); -// } - - double pHomRef = heterozygosity2HomRefProbability(heterozyosity); - double pHet = heterozygosity2HetProbability(heterozyosity); - double pHomVar = heterozygosity2HomVarProbability(heterozyosity); - - if (MathUtils.compareDoubles(pHomRef + pHet + pHomVar, 1.0) != 0) { - throw new RuntimeException(String.format("BUG: Prior probabilities don't sum to one => %f, %f, %f", pHomRef, pHet, pHomVar)); - } - - double[] priors = new double[DiploidGenotype.values().length]; - - for ( DiploidGenotype g : DiploidGenotype.values() ) { - double POfG; - - final double nOnRefHets = 3; - final double nOffRefHets = 3; - final double nHomVars = 3; - - if ( g.isHomRef(ref) ) { POfG = pHomRef; } - else if ( g.isHomVar(ref) ) { POfG = pHomVar / nHomVars; } - else if ( g.isHetRef(ref) ) { POfG = (pHet - pTriStateGenotype ) / nOnRefHets; } - else { POfG = pTriStateGenotype / nOffRefHets; } - - priors[g.ordinal()] = Math.log10(POfG); - } - - return priors; - } - - static { - for ( DiploidGenotype g : DiploidGenotype.values() ) { - flatPriors[g.ordinal()] = Math.log10(1.0 / DiploidGenotype.values().length); - } - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ExactAFCalculationModel.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ExactAFCalculationModel.java index 608a29e38..77a39afc2 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ExactAFCalculationModel.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ExactAFCalculationModel.java @@ -49,13 +49,15 @@ public class ExactAFCalculationModel extends AlleleFrequencyCalculationModel { GenotypesContext GLs = vc.getGenotypes(); List alleles = vc.getAlleles(); - // don't try to genotype too many alternate alleles - if ( vc.getAlternateAlleles().size() > MAX_ALTERNATE_ALLELES_TO_GENOTYPE ) { - logger.warn("this tool is currently set to genotype at most " + MAX_ALTERNATE_ALLELES_TO_GENOTYPE + " alternate alleles in a given context, but the context at " + vc.getChr() + ":" + vc.getStart() + " has " + (vc.getAlternateAlleles().size()) + " alternate alleles so only the top alleles will be used; see the --max_alternate_alleles argument"); + final int myMaxAltAllelesToGenotype = CAP_MAX_ALTERNATE_ALLELES_FOR_INDELS && vc.getType().equals(VariantContext.Type.INDEL) ? 2 : MAX_ALTERNATE_ALLELES_TO_GENOTYPE; - alleles = new ArrayList(MAX_ALTERNATE_ALLELES_TO_GENOTYPE + 1); + // don't try to genotype too many alternate alleles + if ( vc.getAlternateAlleles().size() > myMaxAltAllelesToGenotype ) { + logger.warn("this tool is currently set to genotype at most " + myMaxAltAllelesToGenotype + " alternate alleles in a given context, but the context at " + vc.getChr() + ":" + vc.getStart() + " has " + (vc.getAlternateAlleles().size()) + " alternate alleles so only the top alleles will be used; see the --max_alternate_alleles argument"); + + alleles = new ArrayList(myMaxAltAllelesToGenotype + 1); alleles.add(vc.getReference()); - alleles.addAll(chooseMostLikelyAlternateAlleles(vc, MAX_ALTERNATE_ALLELES_TO_GENOTYPE)); + alleles.addAll(chooseMostLikelyAlternateAlleles(vc, myMaxAltAllelesToGenotype)); GLs = VariantContextUtils.subsetDiploidAlleles(vc, alleles, false); } @@ -100,85 +102,14 @@ public class ExactAFCalculationModel extends AlleleFrequencyCalculationModel { return orderedBestAlleles; } - + + // ------------------------------------------------------------------------------------- // // Multi-allelic implementation. // // ------------------------------------------------------------------------------------- - private static final int HOM_REF_INDEX = 0; // AA likelihoods are always first - - // a wrapper around the int array so that we can make it hashable - private static final class ExactACcounts { - - private final int[] counts; - private int hashcode = -1; - - public ExactACcounts(final int[] counts) { - this.counts = counts; - } - - public int[] getCounts() { - return counts; - } - - @Override - public boolean equals(Object obj) { - return (obj instanceof ExactACcounts) && Arrays.equals(counts, ((ExactACcounts)obj).counts); - } - - @Override - public int hashCode() { - if ( hashcode == -1 ) - hashcode = Arrays.hashCode(counts); - return hashcode; - } - - @Override - public String toString() { - StringBuffer sb = new StringBuffer(); - sb.append(counts[0]); - for ( int i = 1; i < counts.length; i++ ) { - sb.append("/"); - sb.append(counts[i]); - } - return sb.toString(); - } - } - - // This class represents a column in the Exact AC calculation matrix - private static final class ExactACset { - - // the counts of the various alternate alleles which this column represents - final ExactACcounts ACcounts; - - // the column of the matrix - final double[] log10Likelihoods; - - int sum = -1; - - public ExactACset(final int size, final ExactACcounts ACcounts) { - this.ACcounts = ACcounts; - log10Likelihoods = new double[size]; - Arrays.fill(log10Likelihoods, Double.NEGATIVE_INFINITY); - } - - // sum of all the non-reference alleles - public int getACsum() { - if ( sum == -1 ) { - sum = 0; - for ( int count : ACcounts.getCounts() ) - sum += count; - } - return sum; - } - - public boolean equals(Object obj) { - return (obj instanceof ExactACset) && ACcounts.equals(((ExactACset)obj).ACcounts); - } - } - public static void linearExactMultiAllelic(final GenotypesContext GLs, final int numAlternateAlleles, final double[] log10AlleleFrequencyPriors, diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/GenotypeLikelihoodsCalculationModel.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/GenotypeLikelihoodsCalculationModel.java index f8924bed3..4253ff3ad 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/GenotypeLikelihoodsCalculationModel.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/GenotypeLikelihoodsCalculationModel.java @@ -47,18 +47,22 @@ import java.util.Map; */ public abstract class GenotypeLikelihoodsCalculationModel implements Cloneable { -/* public enum Model { - SNP, - INDEL, - BOTH - } - */ + public static final String DUMMY_LANE = "Lane1"; + public static final String DUMMY_SAMPLE_NAME = "DummySample1"; + + /* public enum Model { + SNP, + INDEL, + BOTH + } + */ public enum Model { SNP, INDEL, + BOTH, POOLSNP, POOLINDEL, - BOTH + POOLBOTH } public enum GENOTYPING_MODE { @@ -89,7 +93,7 @@ public abstract class GenotypeLikelihoodsCalculationModel implements Cloneable { * @param ref reference context * @param contexts stratified alignment contexts * @param contextType stratified context type - * @param alternateAllelesToUse the alternate allele to use, null if not set + * @param allAllelesToUse the alternate allele to use, null if not set * @param useBAQedPileup should we use the BAQed pileup or the raw one? * @param locParser Genome Loc Parser * @return variant context where genotypes are no-called but with GLs @@ -98,7 +102,7 @@ public abstract class GenotypeLikelihoodsCalculationModel implements Cloneable { final ReferenceContext ref, final Map contexts, final AlignmentContextUtils.ReadOrientation contextType, - final List alternateAllelesToUse, + final List allAllelesToUse, final boolean useBAQedPileup, final GenomeLocParser locParser); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsCalculationModel.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsCalculationModel.java index a5483ebba..230d6c324 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsCalculationModel.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsCalculationModel.java @@ -35,8 +35,7 @@ import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.Haplotype; -import org.broadinstitute.sting.utils.codecs.vcf.AbstractVCFCodec; -import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.variantcontext.*; @@ -44,14 +43,13 @@ import org.broadinstitute.sting.utils.variantcontext.*; import java.util.*; public class IndelGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsCalculationModel { - private final int HAPLOTYPE_SIZE; - - private final boolean getAlleleListFromVCF; + private static final int HAPLOTYPE_SIZE = 80; private boolean DEBUG = false; private boolean ignoreSNPAllelesWhenGenotypingIndels = false; private PairHMMIndelErrorModel pairModel; - + private boolean allelesArePadded; + private static ThreadLocal>> indelLikelihoodMap = new ThreadLocal>>() { protected synchronized HashMap> initialValue() { @@ -75,124 +73,56 @@ public class IndelGenotypeLikelihoodsCalculationModel extends GenotypeLikelihood super(UAC, logger); pairModel = new PairHMMIndelErrorModel(UAC.INDEL_GAP_OPEN_PENALTY, UAC.INDEL_GAP_CONTINUATION_PENALTY, UAC.OUTPUT_DEBUG_INDEL_INFO, !UAC.DONT_DO_BANDED_INDEL_COMPUTATION); - getAlleleListFromVCF = UAC.GenotypingMode == GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES; - HAPLOTYPE_SIZE = UAC.INDEL_HAPLOTYPE_SIZE; DEBUG = UAC.OUTPUT_DEBUG_INDEL_INFO; haplotypeMap = new LinkedHashMap(); ignoreSNPAllelesWhenGenotypingIndels = UAC.IGNORE_SNP_ALLELES; } - protected List computeConsensusAlleles(ReferenceContext ref, + protected static List computeConsensusAlleles(ReferenceContext ref, Map contexts, AlignmentContextUtils.ReadOrientation contextType, - GenomeLocParser locParser) { + GenomeLocParser locParser, UnifiedArgumentCollection UAC) { ConsensusAlleleCounter counter = new ConsensusAlleleCounter(locParser, true, UAC.MIN_INDEL_COUNT_FOR_GENOTYPING, UAC.MIN_INDEL_FRACTION_PER_SAMPLE); return counter.computeConsensusAlleles(ref, contexts, contextType); } private final static EnumSet allowableTypes = EnumSet.of(VariantContext.Type.INDEL, VariantContext.Type.MIXED); + public VariantContext getLikelihoods(final RefMetaDataTracker tracker, final ReferenceContext ref, final Map contexts, final AlignmentContextUtils.ReadOrientation contextType, - final List alternateAllelesToUse, + final List allAllelesToUse, final boolean useBAQedPileup, final GenomeLocParser locParser) { - if (tracker == null) - return null; - GenomeLoc loc = ref.getLocus(); - Allele refAllele, altAllele; - VariantContext vc = null; - - boolean allelesArePadded = true; - - if (!ref.getLocus().equals(lastSiteVisited)) { +// if (!ref.getLocus().equals(lastSiteVisited)) { + if (contextType == AlignmentContextUtils.ReadOrientation.COMPLETE) { // starting a new site: clear allele list - alleleList.clear(); lastSiteVisited = ref.getLocus(); indelLikelihoodMap.set(new HashMap>()); haplotypeMap.clear(); - if (getAlleleListFromVCF) { - for (final VariantContext vc_input : tracker.getValues(UAC.alleles, loc)) { - if (vc_input != null && - allowableTypes.contains(vc_input.getType()) && - ref.getLocus().getStart() == vc_input.getStart()) { - vc = vc_input; - break; - } - } - // ignore places where we don't have a variant - if (vc == null) - return null; - - alleleList.clear(); - if (ignoreSNPAllelesWhenGenotypingIndels) { - // if there's an allele that has same length as the reference (i.e. a SNP or MNP), ignore it and don't genotype it - for (Allele a : vc.getAlleles()) - if (a.isNonReference() && a.getBases().length == vc.getReference().getBases().length) - continue; - else - alleleList.add(a); - - } else { - for (Allele a : vc.getAlleles()) - alleleList.add(a); - } - if (vc.getReference().getBases().length == vc.getEnd()-vc.getStart()+1) - allelesArePadded = false; - - } else { - alleleList = computeConsensusAlleles(ref, contexts, contextType, locParser); - if (alleleList.isEmpty()) - return null; - } - } - // protect against having an indel too close to the edge of a contig - if (loc.getStart() <= HAPLOTYPE_SIZE) - return null; - - // check if there is enough reference window to create haplotypes (can be an issue at end of contigs) - if (ref.getWindow().getStop() < loc.getStop() + HAPLOTYPE_SIZE) - return null; - - if (alleleList.isEmpty()) - return null; - - refAllele = alleleList.get(0); - altAllele = alleleList.get(1); - - // look for alt allele that has biggest length distance to ref allele - int maxLenDiff = 0; - for (Allele a : alleleList) { - if (a.isNonReference()) { - int lenDiff = Math.abs(a.getBaseString().length() - refAllele.getBaseString().length()); - if (lenDiff > maxLenDiff) { - maxLenDiff = lenDiff; - altAllele = a; - } - } + Pair,Boolean> pair = getInitialAlleleList(tracker, ref, contexts, contextType, locParser, UAC, ignoreSNPAllelesWhenGenotypingIndels); + alleleList = pair.first; + allelesArePadded = pair.second; + if (alleleList.isEmpty()) + return null; } - final int eventLength = altAllele.getBaseString().length() - refAllele.getBaseString().length(); - final int hsize = ref.getWindow().size() - Math.abs(eventLength) - 1; - final int numPrefBases = ref.getLocus().getStart() - ref.getWindow().getStart() + 1; - if (hsize <= 0) { - logger.warn(String.format("Warning: event at location %s can't be genotyped, skipping", loc.toString())); + getHaplotypeMapFromAlleles(alleleList, ref, loc, haplotypeMap); // will update haplotypeMap adding elements + if (haplotypeMap == null || haplotypeMap.isEmpty()) return null; - } - haplotypeMap = Haplotype.makeHaplotypeListFromAlleles(alleleList, loc.getStart(), - ref, hsize, numPrefBases); // start making the VariantContext // For all non-snp VC types, VC end location is just startLocation + length of ref allele including padding base. - int endLoc = loc.getStart() + refAllele.length()-1; - if (allelesArePadded) - endLoc++; + + final int endLoc = computeEndLocation(alleleList, loc,allelesArePadded); + final int eventLength = getEventLength(alleleList); + final VariantContextBuilder builder = new VariantContextBuilder("UG_call", loc.getContig(), loc.getStart(), endLoc, alleleList).referenceBaseForIndel(ref.getBase()); // create the genotypes; no-call everyone for now @@ -206,23 +136,19 @@ public class IndelGenotypeLikelihoodsCalculationModel extends GenotypeLikelihood for (Map.Entry sample : contexts.entrySet()) { AlignmentContext context = AlignmentContextUtils.stratify(sample.getValue(), contextType); - if (context.hasBasePileup()) { - final ReadBackedPileup pileup = context.getBasePileup(); - if (pileup != null) { - final double[] genotypeLikelihoods = pairModel.computeReadHaplotypeLikelihoods(pileup, haplotypeMap, ref, eventLength, getIndelLikelihoodMap()); - GenotypeLikelihoods likelihoods = GenotypeLikelihoods.fromLog10Likelihoods(genotypeLikelihoods); + final ReadBackedPileup pileup = context.getBasePileup(); + if (pileup != null) { + final GenotypeBuilder b = new GenotypeBuilder(sample.getKey()); + final double[] genotypeLikelihoods = pairModel.computeDiploidReadHaplotypeLikelihoods(pileup, haplotypeMap, ref, eventLength, getIndelLikelihoodMap()); + b.PL(genotypeLikelihoods); + b.DP(getFilteredDepth(pileup)); + genotypes.add(b.make()); - HashMap attributes = new HashMap(); - attributes.put(VCFConstants.DEPTH_KEY, getFilteredDepth(pileup)); - attributes.put(VCFConstants.PHRED_GENOTYPE_LIKELIHOODS_KEY, likelihoods); - genotypes.add(new Genotype(sample.getKey(), noCall, Genotype.NO_LOG10_PERROR, null, attributes, false)); - - if (DEBUG) { - System.out.format("Sample:%s Alleles:%s GL:", sample.getKey(), alleleList.toString()); - for (int k = 0; k < genotypeLikelihoods.length; k++) - System.out.format("%1.4f ", genotypeLikelihoods[k]); - System.out.println(); - } + if (DEBUG) { + System.out.format("Sample:%s Alleles:%s GL:", sample.getKey(), alleleList.toString()); + for (int k = 0; k < genotypeLikelihoods.length; k++) + System.out.format("%1.4f ", genotypeLikelihoods[k]); + System.out.println(); } } } @@ -234,6 +160,105 @@ public class IndelGenotypeLikelihoodsCalculationModel extends GenotypeLikelihood return indelLikelihoodMap.get(); } + public static int computeEndLocation(final List alleles, final GenomeLoc loc, final boolean allelesArePadded) { + Allele refAllele = alleles.get(0); + int endLoc = loc.getStart() + refAllele.length()-1; + if (allelesArePadded) + endLoc++; + + return endLoc; + } + + public static void getHaplotypeMapFromAlleles(final List alleleList, + final ReferenceContext ref, + final GenomeLoc loc, + final LinkedHashMap haplotypeMap) { + // protect against having an indel too close to the edge of a contig + if (loc.getStart() <= HAPLOTYPE_SIZE) + haplotypeMap.clear(); + // check if there is enough reference window to create haplotypes (can be an issue at end of contigs) + else if (ref.getWindow().getStop() < loc.getStop() + HAPLOTYPE_SIZE) + haplotypeMap.clear(); + else if (alleleList.isEmpty()) + haplotypeMap.clear(); + else { + final int eventLength = getEventLength(alleleList); + final int hsize = ref.getWindow().size() - Math.abs(eventLength) - 1; + final int numPrefBases = ref.getLocus().getStart() - ref.getWindow().getStart() + 1; + + if (hsize <= 0) // protect against event lengths larger than ref window sizes + haplotypeMap.clear(); + else + haplotypeMap.putAll(Haplotype.makeHaplotypeListFromAlleles(alleleList, loc.getStart(), + ref, hsize, numPrefBases)); + } + } + + public static int getEventLength(List alleleList) { + Allele refAllele = alleleList.get(0); + Allele altAllele = alleleList.get(1); + // look for alt allele that has biggest length distance to ref allele + int maxLenDiff = 0; + for (Allele a : alleleList) { + if (a.isNonReference()) { + int lenDiff = Math.abs(a.getBaseString().length() - refAllele.getBaseString().length()); + if (lenDiff > maxLenDiff) { + maxLenDiff = lenDiff; + altAllele = a; + } + } + } + + return altAllele.getBaseString().length() - refAllele.getBaseString().length(); + + } + + public static Pair,Boolean> getInitialAlleleList(final RefMetaDataTracker tracker, + final ReferenceContext ref, + final Map contexts, + final AlignmentContextUtils.ReadOrientation contextType, + final GenomeLocParser locParser, + final UnifiedArgumentCollection UAC, + final boolean ignoreSNPAllelesWhenGenotypingIndels) { + + List alleles = new ArrayList(); + boolean allelesArePadded = true; + if (UAC.GenotypingMode == GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES) { + VariantContext vc = null; + for (final VariantContext vc_input : tracker.getValues(UAC.alleles, ref.getLocus())) { + if (vc_input != null && + allowableTypes.contains(vc_input.getType()) && + ref.getLocus().getStart() == vc_input.getStart()) { + vc = vc_input; + break; + } + } + // ignore places where we don't have a variant + if (vc == null) + return new Pair,Boolean>(alleles,false); + + if (ignoreSNPAllelesWhenGenotypingIndels) { + // if there's an allele that has same length as the reference (i.e. a SNP or MNP), ignore it and don't genotype it + for (Allele a : vc.getAlleles()) + if (a.isNonReference() && a.getBases().length == vc.getReference().getBases().length) + continue; + else + alleles.add(a); + + } else { + alleles.addAll(vc.getAlleles()); + } + if ( vc.getReference().getBases().length == vc.getEnd()-vc.getStart()+1) + allelesArePadded = false; + + + + } else { + alleles = IndelGenotypeLikelihoodsCalculationModel.computeConsensusAlleles(ref, contexts, contextType, locParser, UAC); + } + return new Pair,Boolean> (alleles,allelesArePadded); + } + // Overload function in GenotypeLikelihoodsCalculationModel so that, for an indel case, we consider a deletion as part of the pileup, // so that per-sample DP will include deletions covering the event. protected int getFilteredDepth(ReadBackedPileup pileup) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/SNPGenotypeLikelihoodsCalculationModel.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/SNPGenotypeLikelihoodsCalculationModel.java index 3088cf9d2..c767cf783 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/SNPGenotypeLikelihoodsCalculationModel.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/SNPGenotypeLikelihoodsCalculationModel.java @@ -35,7 +35,6 @@ import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.baq.BAQ; -import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; @@ -43,7 +42,6 @@ import org.broadinstitute.sting.utils.pileup.ReadBackedPileupImpl; import org.broadinstitute.sting.utils.variantcontext.*; import java.util.ArrayList; -import java.util.HashMap; import java.util.List; import java.util.Map; @@ -62,20 +60,17 @@ public class SNPGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsC final ReferenceContext ref, final Map contexts, final AlignmentContextUtils.ReadOrientation contextType, - final List alternateAllelesToUse, + final List allAllelesToUse, final boolean useBAQedPileup, final GenomeLocParser locParser) { final byte refBase = ref.getBase(); final int indexOfRefBase = BaseUtils.simpleBaseToBaseIndex(refBase); + // handle non-standard reference bases + if ( indexOfRefBase == -1 ) + return null; final Allele refAllele = Allele.create(refBase, true); - // start making the VariantContext - final GenomeLoc loc = ref.getLocus(); - final List alleles = new ArrayList(); - alleles.add(refAllele); - final VariantContextBuilder builder = new VariantContextBuilder("UG_call", loc.getContig(), loc.getStart(), loc.getStop(), alleles); - // calculate the GLs ArrayList GLs = new ArrayList(contexts.size()); for ( Map.Entry sample : contexts.entrySet() ) { @@ -84,15 +79,22 @@ public class SNPGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsC pileup = createBAQedPileup( pileup ); // create the GenotypeLikelihoods object - final DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering GL = new DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering(UAC.PCR_error); + final DiploidSNPGenotypeLikelihoods GL = new DiploidSNPGenotypeLikelihoods(UAC.PCR_error); final int nGoodBases = GL.add(pileup, true, true, UAC.MIN_BASE_QUALTY_SCORE); if ( nGoodBases > 0 ) GLs.add(new SampleGenotypeData(sample.getKey(), GL, getFilteredDepth(pileup))); } + // start making the VariantContext + final GenomeLoc loc = ref.getLocus(); + final List alleles = new ArrayList(); + alleles.add(refAllele); + + + final VariantContextBuilder builder = new VariantContextBuilder("UG_call", loc.getContig(), loc.getStart(), loc.getStop(), alleles); // find the alternate allele(s) that we should be using - if ( alternateAllelesToUse != null ) { - alleles.addAll(alternateAllelesToUse); + if ( allAllelesToUse != null ) { + alleles.addAll(allAllelesToUse.subList(1,allAllelesToUse.size())); // this includes ref allele } else if ( useAlleleFromVCF ) { final VariantContext vc = UnifiedGenotyperEngine.getVCFromAllelesRod(tracker, ref, ref.getLocus(), true, logger, UAC.alleles); @@ -139,7 +141,7 @@ public class SNPGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsC for ( int j = i; j <= numAltAlleles; j++ ) { // As per the VCF spec: "the ordering of genotypes for the likelihoods is given by: F(j/k) = (k*(k+1)/2)+j. // In other words, for biallelic sites the ordering is: AA,AB,BB; for triallelic sites the ordering is: AA,AB,BB,AC,BC,CC, etc." - PLordering[(j * (j+1) / 2) + i] = DiploidGenotypeWithCorrectAlleleOrdering.createDiploidGenotype(alleleOrdering[i], alleleOrdering[j]).ordinal(); + PLordering[(j * (j+1) / 2) + i] = DiploidGenotype.createDiploidGenotype(alleleOrdering[i], alleleOrdering[j]).ordinal(); } } @@ -156,12 +158,11 @@ public class SNPGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsC myLikelihoods[i] = allLikelihoods[PLordering[i]]; // normalize in log space so that max element is zero. - final GenotypeLikelihoods likelihoods = GenotypeLikelihoods.fromLog10Likelihoods(MathUtils.normalizeFromLog10(myLikelihoods, false, true)); - - final HashMap attributes = new HashMap(); - attributes.put(VCFConstants.DEPTH_KEY, sampleData.depth); - attributes.put(VCFConstants.PHRED_GENOTYPE_LIKELIHOODS_KEY, likelihoods); - genotypes.add(new Genotype(sampleData.name, noCall, Genotype.NO_LOG10_PERROR, null, attributes, false)); + final GenotypeBuilder gb = new GenotypeBuilder(sampleData.name); + final double[] genotypeLikelihoods = MathUtils.normalizeFromLog10(myLikelihoods, false, true); + gb.PL(genotypeLikelihoods); + gb.DP(sampleData.depth); + genotypes.add(gb.make()); } return builder.genotypes(genotypes).make(); @@ -171,7 +172,7 @@ public class SNPGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsC protected List determineAlternateAlleles(final byte ref, final List sampleDataList) { final int baseIndexOfRef = BaseUtils.simpleBaseToBaseIndex(ref); - final int PLindexOfRef = DiploidGenotypeWithCorrectAlleleOrdering.createDiploidGenotype(ref, ref).ordinal(); + final int PLindexOfRef = DiploidGenotype.createDiploidGenotype(ref, ref).ordinal(); for ( int i = 0; i < 4; i++ ) likelihoodSums[i] = 0.0; @@ -219,10 +220,10 @@ public class SNPGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsC private static class SampleGenotypeData { public final String name; - public final DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering GL; + public final DiploidSNPGenotypeLikelihoods GL; public final int depth; - public SampleGenotypeData(final String name, final DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering GL, final int depth) { + public SampleGenotypeData(final String name, final DiploidSNPGenotypeLikelihoods GL, final int depth) { this.name = name; this.GL = GL; this.depth = depth; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedArgumentCollection.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedArgumentCollection.java index 599524026..020f7904d 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedArgumentCollection.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedArgumentCollection.java @@ -27,6 +27,7 @@ package org.broadinstitute.sting.gatk.walkers.genotyper; import org.broadinstitute.sting.commandline.*; import org.broadinstitute.sting.utils.variantcontext.VariantContext; +import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; public class UnifiedArgumentCollection { @@ -37,7 +38,8 @@ public class UnifiedArgumentCollection { /** * Controls the model used to calculate the probability that a site is variant plus the various sample genotypes in the data at a given locus. */ - @Argument(fullName = "p_nonref_model", shortName = "pnrm", doc = "Non-reference probability calculation model to employ -- EXACT is the default option, while GRID_SEARCH is also available.", required = false) + @Advanced + @Argument(fullName = "p_nonref_model", shortName = "pnrm", doc = "Non-reference probability calculation model to employ", required = false) protected AlleleFrequencyCalculationModel.Model AFmodel = AlleleFrequencyCalculationModel.Model.EXACT; /** @@ -53,7 +55,7 @@ public class UnifiedArgumentCollection { * effectively acts as a cap on the base qualities. */ @Argument(fullName = "pcr_error_rate", shortName = "pcr_error", doc = "The PCR error rate to be used for computing fragment-based likelihoods", required = false) - public Double PCR_error = DiploidSNPGenotypeLikelihoodsWithCorrectAlleleOrdering.DEFAULT_PCR_ERROR_RATE; + public Double PCR_error = DiploidSNPGenotypeLikelihoods.DEFAULT_PCR_ERROR_RATE; @Argument(fullName = "genotyping_mode", shortName = "gt_mode", doc = "Specifies how to determine the alternate alleles to use for genotyping", required = false) public GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE GenotypingMode = GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.DISCOVERY; @@ -64,18 +66,15 @@ public class UnifiedArgumentCollection { /** * The minimum phred-scaled Qscore threshold to separate high confidence from low confidence calls. Only genotypes with * confidence >= this threshold are emitted as called sites. A reasonable threshold is 30 for high-pass calling (this - * is the default). Note that the confidence (QUAL) values for multi-sample low-pass (e.g. 4x per sample) calling might - * be significantly smaller with the new EXACT model than with our older GRID_SEARCH model, as the latter tended to - * over-estimate the confidence; for low-pass calling we tend to use much smaller thresholds (e.g. 4). + * is the default). */ - @Argument(fullName = "standard_min_confidence_threshold_for_calling", shortName = "stand_call_conf", doc = "The minimum phred-scaled confidence threshold at which variants not at 'trigger' track sites should be called", required = false) + @Argument(fullName = "standard_min_confidence_threshold_for_calling", shortName = "stand_call_conf", doc = "The minimum phred-scaled confidence threshold at which variants should be called", required = false) public double STANDARD_CONFIDENCE_FOR_CALLING = 30.0; /** - * the minimum phred-scaled Qscore threshold to emit low confidence calls. Genotypes with confidence >= this but less - * than the calling threshold are emitted but marked as filtered. + * This argument allows you to emit low quality calls as filtered records. */ - @Argument(fullName = "standard_min_confidence_threshold_for_emitting", shortName = "stand_emit_conf", doc = "The minimum phred-scaled confidence threshold at which variants not at 'trigger' track sites should be emitted (and filtered if less than the calling threshold)", required = false) + @Argument(fullName = "standard_min_confidence_threshold_for_emitting", shortName = "stand_emit_conf", doc = "The minimum phred-scaled confidence threshold at which variants should be emitted (and filtered with LowQual if less than the calling threshold)", required = false) public double STANDARD_CONFIDENCE_FOR_EMITTING = 30.0; /** @@ -118,6 +117,10 @@ public class UnifiedArgumentCollection { @Argument(fullName = "max_alternate_alleles", shortName = "maxAlleles", doc = "Maximum number of alternate alleles to genotype", required = false) public int MAX_ALTERNATE_ALLELES = 3; + @Hidden + @Argument(fullName = "cap_max_alternate_alleles_for_indels", shortName = "capMaxAllelesForIndels", doc = "Cap the maximum number of alternate alleles to genotype for indel calls at 2; overrides the --max_alternate_alleles argument; GSA production use only", required = false) + public boolean CAP_MAX_ALTERNATE_ALLELES_FOR_INDELS = false; + // indel-related arguments /** * A candidate indel is genotyped (and potentially called) if there are this number of reads with a consensus indel at a site. @@ -167,6 +170,66 @@ public class UnifiedArgumentCollection { @Argument(fullName = "ignoreSNPAlleles", shortName = "ignoreSNPAlleles", doc = "expt", required = false) public boolean IGNORE_SNP_ALLELES = false; + /* + Generalized ploidy argument (debug only): squash all reads into a single pileup without considering sample info + */ + @Hidden + @Argument(fullName = "allReadsSP", shortName = "dl", doc = "expt", required = false) + public boolean TREAT_ALL_READS_AS_SINGLE_POOL = false; + + /* + Generalized ploidy argument (debug only): When building site error models, ignore lane information and build only + sample-level error model + */ + + @Argument(fullName = "ignoreLaneInfo", shortName = "ignoreLane", doc = "Ignore lane when building error model, error model is then per-site", required = false) + public boolean IGNORE_LANE_INFO = false; + + /* + Generalized ploidy argument: VCF file that contains truth calls for reference sample. If a reference sample is included through argument -refsample, + then this argument is required. + */ + @Input(fullName="reference_sample_calls", shortName = "referenceCalls", doc="VCF file with the truth callset for the reference sample", required=false) + RodBinding referenceSampleRod; + + /* + Reference sample name: if included, a site-specific error model will be built in order to improve calling quality. This requires ideally + that a bar-coded reference sample be included with the polyploid/pooled data in a sequencing experimental design. + If argument is absent, no per-site error model is included and calling is done with a generalization of traditional statistical calling. + */ + @Argument(shortName="refsample", fullName="reference_sample_name", doc="Reference sample name.", required=false) + String referenceSampleName; + + /* + Sample ploidy - equivalent to number of chromosomes per pool. In pooled experiments this should be = # of samples in pool * individual sample ploidy + */ + @Argument(shortName="ploidy", fullName="sample_ploidy", doc="Plody (number of chromosomes) per sample. For pooled data, set to (Number of samples in each pool * Sample Ploidy).", required=false) + int samplePloidy = VariantContextUtils.DEFAULT_PLOIDY; + + @Hidden + @Argument(shortName="minqs", fullName="min_quality_score", doc="Min quality score to consider. Smaller numbers process faster. Default: Q1.", required=false) + byte minQualityScore= 1; + + @Hidden + @Argument(shortName="maxqs", fullName="max_quality_score", doc="Max quality score to consider. Smaller numbers process faster. Default: Q40.", required=false) + byte maxQualityScore= 40; + + @Hidden + @Argument(shortName="site_prior", fullName="site_quality_prior", doc="Phred-Scaled prior quality of the site. Default: Q20.", required=false) + byte phredScaledPrior = 20; + + @Hidden + @Argument(shortName = "min_call_power", fullName = "min_power_threshold_for_calling", doc="The minimum confidence in the error model to make a call. Number should be between 0 (no power requirement) and 1 (maximum power required).", required = false) + double minPower = 0.95; + + @Hidden + @Argument(shortName = "min_depth", fullName = "min_reference_depth", doc="The minimum depth required in the reference sample in order to make a call.", required = false) + int minReferenceDepth = 100; + + @Hidden + @Argument(shortName="ef", fullName="exclude_filtered_reference_sites", doc="Don't include in the analysis sites where the reference sample VCF is filtered. Default: false.", required=false) + boolean EXCLUDE_FILTERED_REFERENCE_SITES = false; + // Developers must remember to add any newly added arguments to the list here as well otherwise they won't get changed from their default value! public UnifiedArgumentCollection clone() { @@ -193,6 +256,19 @@ public class UnifiedArgumentCollection { uac.INDEL_HAPLOTYPE_SIZE = INDEL_HAPLOTYPE_SIZE; uac.alleles = alleles; uac.MAX_ALTERNATE_ALLELES = MAX_ALTERNATE_ALLELES; + uac.CAP_MAX_ALTERNATE_ALLELES_FOR_INDELS = CAP_MAX_ALTERNATE_ALLELES_FOR_INDELS; + uac.GLmodel = GLmodel; + uac.TREAT_ALL_READS_AS_SINGLE_POOL = TREAT_ALL_READS_AS_SINGLE_POOL; + uac.referenceSampleRod = referenceSampleRod; + uac.referenceSampleName = referenceSampleName; + uac.samplePloidy = samplePloidy; + uac.maxQualityScore = minQualityScore; + uac.maxQualityScore = maxQualityScore; + uac.phredScaledPrior = phredScaledPrior; + uac.minPower = minPower; + uac.minReferenceDepth = minReferenceDepth; + uac.EXCLUDE_FILTERED_REFERENCE_SITES = EXCLUDE_FILTERED_REFERENCE_SITES; + uac.IGNORE_LANE_INFO = IGNORE_LANE_INFO; // todo- arguments to remove uac.IGNORE_SNP_ALLELES = IGNORE_SNP_ALLELES; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyper.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyper.java index 3cec931d0..b3a0b2a5d 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyper.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyper.java @@ -35,14 +35,16 @@ import org.broadinstitute.sting.gatk.filters.MappingQualityUnavailableFilter; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.gatk.walkers.annotator.VariantAnnotatorEngine; -import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; +import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.baq.BAQ; +import org.broadinstitute.sting.utils.classloader.GATKLiteUtils; import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.GenotypeLikelihoods; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import java.io.PrintStream; import java.util.*; @@ -65,7 +67,7 @@ import java.util.*; * *

Output

*

- * A raw, unfiltered, highly specific callset in VCF format. + * A raw, unfiltered, highly sensitive callset in VCF format. *

* *

Example generic command for multi-sample SNP calling

@@ -119,7 +121,7 @@ import java.util.*; // TODO -- When LocusIteratorByState gets cleaned up, we should enable multiple @By sources: // TODO -- @By( {DataSource.READS, DataSource.REFERENCE_ORDERED_DATA} ) @Downsample(by=DownsampleType.BY_SAMPLE, toCoverage=250) -public class UnifiedGenotyper extends LocusWalker, UnifiedGenotyper.UGStatistics> implements TreeReducible, AnnotatorCompatibleWalker { +public class UnifiedGenotyper extends LocusWalker, UnifiedGenotyper.UGStatistics> implements TreeReducible, AnnotatorCompatible { @ArgumentCollection private UnifiedArgumentCollection UAC = new UnifiedArgumentCollection(); @@ -148,10 +150,10 @@ public class UnifiedGenotyper extends LocusWalker, Unif public boolean alwaysAppendDbsnpId() { return false; } /** - * A raw, unfiltered, highly specific callset in VCF format. + * A raw, unfiltered, highly sensitive callset in VCF format. */ @Output(doc="File to which variants should be written",required=true) - protected VCFWriter writer = null; + protected VariantContextWriter writer = null; @Hidden @Argument(fullName = "debug_file", shortName = "debug_file", doc = "File to print all of the annotated and detailed debugging output", required = false) @@ -186,6 +188,8 @@ public class UnifiedGenotyper extends LocusWalker, Unif // the annotation engine private VariantAnnotatorEngine annotationEngine; + private Set samples; + // enable deletions in the pileup @Override public boolean includeReadsWithDeletionAtLoci() { return true; } @@ -219,6 +223,44 @@ public class UnifiedGenotyper extends LocusWalker, Unif * **/ public void initialize() { + + // Check for protected modes + if (GATKLiteUtils.isGATKLite()) { + // no polyploid/pooled mode in GATK Like + if (UAC.samplePloidy != VariantContextUtils.DEFAULT_PLOIDY || + UAC.referenceSampleName != null || + UAC.referenceSampleRod.isBound()) { + throw new UserException.NotSupportedInGATKLite("Usage of ploidy values different than 2 not supported in this GATK version"); + } + // get all of the unique sample names + samples = SampleUtils.getSAMFileSamples(getToolkit().getSAMFileHeader()); + + } else { + // in full mode: check for consistency in ploidy/pool calling arguments + // check for correct calculation models + if (UAC.samplePloidy != VariantContextUtils.DEFAULT_PLOIDY) { + // polyploidy requires POOL GL and AF calculation models to be specified right now + if (UAC.GLmodel != GenotypeLikelihoodsCalculationModel.Model.POOLSNP && UAC.GLmodel != GenotypeLikelihoodsCalculationModel.Model.POOLINDEL + && UAC.GLmodel != GenotypeLikelihoodsCalculationModel.Model.POOLBOTH) { + throw new UserException("Incorrect genotype calculation model chosen. Only [POOLSNP|POOLINDEL|POOLBOTH] supported with this walker if sample ploidy != 2"); + } + + if (UAC.AFmodel != AlleleFrequencyCalculationModel.Model.POOL) + throw new UserException("Incorrect AF Calculation model. Only POOL model supported if sample ploidy != 2"); + + } + // get all of the unique sample names + if (UAC.TREAT_ALL_READS_AS_SINGLE_POOL) { + samples.clear(); + samples.add(GenotypeLikelihoodsCalculationModel.DUMMY_SAMPLE_NAME); + } else { + samples = SampleUtils.getSAMFileSamples(getToolkit().getSAMFileHeader()); + if (UAC.referenceSampleName != null ) + samples.remove(UAC.referenceSampleName); + } + + } + // check for a bad max alleles value if ( UAC.MAX_ALTERNATE_ALLELES > GenotypeLikelihoods.MAX_ALT_ALLELES_THAT_CAN_BE_GENOTYPED) throw new UserException.BadArgumentValue("max_alternate_alleles", "the maximum possible value is " + GenotypeLikelihoods.MAX_ALT_ALLELES_THAT_CAN_BE_GENOTYPED); @@ -229,67 +271,73 @@ public class UnifiedGenotyper extends LocusWalker, Unif UAC.GLmodel != GenotypeLikelihoodsCalculationModel.Model.SNP ) logger.warn("WARNING: note that the EMIT_ALL_SITES option is intended only for point mutations (SNPs) in DISCOVERY mode or generally when running in GENOTYPE_GIVEN_ALLELES mode; it will by no means produce a comprehensive set of indels in DISCOVERY mode"); - // get all of the unique sample names - Set samples = SampleUtils.getSAMFileSamples(getToolkit().getSAMFileHeader()); - - // initialize the verbose writer + // initialize the verbose writer if ( verboseWriter != null ) verboseWriter.println("AFINFO\tLOC\tREF\tALT\tMAF\tF\tAFprior\tMLE\tMAP"); annotationEngine = new VariantAnnotatorEngine(Arrays.asList(annotationClassesToUse), annotationsToUse, annotationsToExclude, this, getToolkit()); - UG_engine = new UnifiedGenotyperEngine(getToolkit(), UAC, logger, verboseWriter, annotationEngine, samples, VariantContextUtils.DEFAULT_PLOIDY); + UG_engine = new UnifiedGenotyperEngine(getToolkit(), UAC, logger, verboseWriter, annotationEngine, samples, UAC.samplePloidy); // initialize the header - Set headerInfo = getHeaderInfo(); + Set headerInfo = getHeaderInfo(UAC, annotationEngine, dbsnp); // invoke initialize() method on each of the annotation classes, allowing them to add their own header lines // and perform any necessary initialization/validation steps annotationEngine.invokeAnnotationInitializationMethods(headerInfo); writer.writeHeader(new VCFHeader(headerInfo, samples)); + + } - private Set getHeaderInfo() { + public static Set getHeaderInfo(final UnifiedArgumentCollection UAC, + final VariantAnnotatorEngine annotationEngine, + final DbsnpArgumentCollection dbsnp) { Set headerInfo = new HashSet(); // all annotation fields from VariantAnnotatorEngine - headerInfo.addAll(annotationEngine.getVCFAnnotationDescriptions()); + if ( annotationEngine != null ) + headerInfo.addAll(annotationEngine.getVCFAnnotationDescriptions()); // annotation (INFO) fields from UnifiedGenotyper if ( !UAC.NO_SLOD ) - headerInfo.add(new VCFInfoHeaderLine(VCFConstants.STRAND_BIAS_KEY, 1, VCFHeaderLineType.Float, "Strand Bias")); + VCFStandardHeaderLines.addStandardInfoLines(headerInfo, true, VCFConstants.STRAND_BIAS_KEY); + if ( UAC.ANNOTATE_NUMBER_OF_ALLELES_DISCOVERED ) headerInfo.add(new VCFInfoHeaderLine(UnifiedGenotyperEngine.NUMBER_OF_DISCOVERED_ALLELES_KEY, 1, VCFHeaderLineType.Integer, "Number of alternate alleles discovered (but not necessarily genotyped) at this site")); - headerInfo.add(new VCFInfoHeaderLine(VCFConstants.DOWNSAMPLED_KEY, 0, VCFHeaderLineType.Flag, "Were any of the samples downsampled?")); + + // add the pool values for each genotype + if (UAC.samplePloidy != VariantContextUtils.DEFAULT_PLOIDY) { + headerInfo.add(new VCFFormatHeaderLine(VCFConstants.MLE_ALLELE_COUNT_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Integer, "Maximum likelihood expectation (MLE) for the allele counts (not necessarily the same as the AC), for each ALT allele, in the same order as listed, for this pool")); + headerInfo.add(new VCFFormatHeaderLine(VCFConstants.MLE_ALLELE_FREQUENCY_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Float, "Maximum likelihood expectation (MLE) for the allele frequency (not necessarily the same as the AF), for each ALT allele, in the same order as listed, for this pool")); + } + if (UAC.referenceSampleName != null) { + headerInfo.add(new VCFInfoHeaderLine(VCFConstants.REFSAMPLE_DEPTH_KEY, 1, VCFHeaderLineType.Integer, "Total reference sample depth")); + } + + VCFStandardHeaderLines.addStandardInfoLines(headerInfo, true, + VCFConstants.DOWNSAMPLED_KEY, + VCFConstants.MLE_ALLELE_COUNT_KEY, + VCFConstants.MLE_ALLELE_FREQUENCY_KEY); // also, check to see whether comp rods were included - if ( dbsnp.dbsnp.isBound() ) - headerInfo.add(new VCFInfoHeaderLine(VCFConstants.DBSNP_KEY, 0, VCFHeaderLineType.Flag, "dbSNP Membership")); + if ( dbsnp != null && dbsnp.dbsnp.isBound() ) + VCFStandardHeaderLines.addStandardInfoLines(headerInfo, true, VCFConstants.DBSNP_KEY); - // FORMAT and INFO fields - headerInfo.addAll(getSupportedHeaderStrings()); + // FORMAT fields + VCFStandardHeaderLines.addStandardFormatLines(headerInfo, true, + VCFConstants.GENOTYPE_KEY, + VCFConstants.GENOTYPE_QUALITY_KEY, + VCFConstants.DEPTH_KEY, + VCFConstants.GENOTYPE_PL_KEY); - // FILTER fields - if ( UAC.STANDARD_CONFIDENCE_FOR_EMITTING < UAC.STANDARD_CONFIDENCE_FOR_CALLING ) - headerInfo.add(new VCFFilterHeaderLine(UnifiedGenotyperEngine.LOW_QUAL_FILTER_NAME, "Low quality")); + // FILTER fields are added unconditionally as it's not always 100% certain the circumstances + // where the filters are used. For example, in emitting all sites the lowQual field is used + headerInfo.add(new VCFFilterHeaderLine(UnifiedGenotyperEngine.LOW_QUAL_FILTER_NAME, "Low quality")); return headerInfo; } - /** - * return a set of supported format lines; what we currently support for output in the genotype fields of a VCF - * @return a set of VCF format lines - */ - private static Set getSupportedHeaderStrings() { - Set result = new HashSet(); - result.add(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_KEY, 1, VCFHeaderLineType.String, "Genotype")); - result.add(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_QUALITY_KEY, 1, VCFHeaderLineType.Float, "Genotype Quality")); - result.add(new VCFFormatHeaderLine(VCFConstants.DEPTH_KEY, 1, VCFHeaderLineType.Integer, "Approximate read depth (reads with MQ=255 or with bad mates are filtered)")); - result.add(new VCFFormatHeaderLine(VCFConstants.PHRED_GENOTYPE_LIKELIHOODS_KEY, VCFHeaderLineCount.G, VCFHeaderLineType.Integer, "Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification")); - - return result; - } - /** * Compute at a given locus. * @@ -299,7 +347,7 @@ public class UnifiedGenotyper extends LocusWalker, Unif * @return the VariantCallContext object */ public List map(RefMetaDataTracker tracker, ReferenceContext refContext, AlignmentContext rawContext) { - return UG_engine.calculateLikelihoodsAndGenotypes(tracker, refContext, rawContext); + return UG_engine.calculateLikelihoodsAndGenotypes(tracker, refContext, rawContext, samples); } public UGStatistics reduceInit() { return new UGStatistics(); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngine.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngine.java index caa3a6b6b..32564984a 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngine.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngine.java @@ -37,6 +37,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.VariantAnnotatorEngine; import org.broadinstitute.sting.utils.*; import org.broadinstitute.sting.utils.baq.BAQ; import org.broadinstitute.sting.utils.classloader.PluginManager; +import org.broadinstitute.sting.utils.codecs.vcf.VCFAlleleClipper; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; @@ -114,7 +115,7 @@ public class UnifiedGenotyperEngine { // --------------------------------------------------------------------------------------------------------- @Requires({"toolkit != null", "UAC != null"}) public UnifiedGenotyperEngine(GenomeAnalysisEngine toolkit, UnifiedArgumentCollection UAC) { - this(toolkit, UAC, Logger.getLogger(UnifiedGenotyperEngine.class), null, null, SampleUtils.getSAMFileSamples(toolkit.getSAMFileHeader()), VariantContextUtils.DEFAULT_PLOIDY*(SampleUtils.getSAMFileSamples(toolkit.getSAMFileHeader()).size())); + this(toolkit, UAC, Logger.getLogger(UnifiedGenotyperEngine.class), null, null, SampleUtils.getSAMFileSamples(toolkit.getSAMFileHeader()), VariantContextUtils.DEFAULT_PLOIDY); } @Requires({"toolkit != null", "UAC != null", "logger != null", "samples != null && samples.size() > 0","ploidy>0"}) @@ -140,14 +141,39 @@ public class UnifiedGenotyperEngine { } /** - * Compute full calls at a given locus. Entry point for engine calls from the UnifiedGenotyper. + * @see #calculateLikelihoodsAndGenotypes(org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker, org.broadinstitute.sting.gatk.contexts.ReferenceContext, org.broadinstitute.sting.gatk.contexts.AlignmentContext, java.util.Set) + * + * same as the full call but with allSamples == null * * @param tracker the meta data tracker * @param refContext the reference base * @param rawContext contextual information around the locus * @return the VariantCallContext object */ - public List calculateLikelihoodsAndGenotypes(RefMetaDataTracker tracker, ReferenceContext refContext, AlignmentContext rawContext) { + public List calculateLikelihoodsAndGenotypes(final RefMetaDataTracker tracker, + final ReferenceContext refContext, + final AlignmentContext rawContext) { + return calculateLikelihoodsAndGenotypes(tracker, refContext, rawContext, null); + } + + + /** + * Compute full calls at a given locus. Entry point for engine calls from the UnifiedGenotyper. + * + * If allSamples != null, then the output variantCallContext is guarenteed to contain a genotype + * for every sample in allSamples. If it's null there's no such guarentee. Providing this + * argument is critical when the resulting calls will be written to a VCF file. + * + * @param tracker the meta data tracker + * @param refContext the reference base + * @param rawContext contextual information around the locus + * @param allSamples set of all sample names that we might call (i.e., those in the VCF header) + * @return the VariantCallContext object + */ + public List calculateLikelihoodsAndGenotypes(final RefMetaDataTracker tracker, + final ReferenceContext refContext, + final AlignmentContext rawContext, + final Set allSamples) { final List results = new ArrayList(2); final List models = getGLModelsToUse(tracker, refContext, rawContext); @@ -163,12 +189,28 @@ public class UnifiedGenotyperEngine { else { final VariantContext vc = calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.COMPLETE, null, true, model); if ( vc != null ) - results.add(calculateGenotypes(tracker, refContext, rawContext, stratifiedContexts, vc, model)); + results.add(calculateGenotypes(tracker, refContext, rawContext, stratifiedContexts, vc, model, true)); } } } - return results; + return addMissingSamples(results, allSamples); + } + + private List addMissingSamples(final List calls, final Set allSamples) { + if ( calls.isEmpty() || allSamples == null ) return calls; + + final List withAllSamples = new ArrayList(calls.size()); + for ( final VariantCallContext call : calls ) { + if ( call == null ) + withAllSamples.add(call); + else { + final VariantContext withoutMissing = VariantContextUtils.addMissingSamples(call, allSamples); + withAllSamples.add(new VariantCallContext(withoutMissing, call.confidentlyCalled, call.shouldEmit)); + } + } + + return withAllSamples; } /** @@ -252,7 +294,7 @@ public class UnifiedGenotyperEngine { vc = new VariantContextBuilder("UG_call", ref.getLocus().getContig(), ref.getLocus().getStart(), ref.getLocus().getStart(), alleles).make(); } - if ( annotationEngine != null && rawContext.hasBasePileup() ) { + if ( annotationEngine != null ) { // Note: we want to use the *unfiltered* and *unBAQed* context for the annotations final ReadBackedPileup pileup = rawContext.getBasePileup(); stratifiedContexts = AlignmentContextUtils.splitContextBySampleName(pileup); @@ -268,6 +310,22 @@ public class UnifiedGenotyperEngine { } public VariantCallContext calculateGenotypes(RefMetaDataTracker tracker, ReferenceContext refContext, AlignmentContext rawContext, Map stratifiedContexts, VariantContext vc, final GenotypeLikelihoodsCalculationModel.Model model) { + return calculateGenotypes(tracker, refContext, rawContext, stratifiedContexts, vc, model, false); + } + + /** + * Main entry function to calculate genotypes of a given VC with corresponding GL's + * @param tracker Tracker + * @param refContext Reference context + * @param rawContext Raw context + * @param stratifiedContexts Stratified alignment contexts + * @param vc Input VC + * @param model GL calculation model + * @param inheritAttributesFromInputVC Output VC will contain attributes inherited from input vc + * @return VC with assigned genotypes + */ + public VariantCallContext calculateGenotypes(RefMetaDataTracker tracker, ReferenceContext refContext, AlignmentContext rawContext, Map stratifiedContexts, VariantContext vc, final GenotypeLikelihoodsCalculationModel.Model model, + final boolean inheritAttributesFromInputVC) { boolean limitedContext = tracker == null || refContext == null || rawContext == null || stratifiedContexts == null; @@ -296,6 +354,7 @@ public class UnifiedGenotyperEngine { // determine which alternate alleles have AF>0 final List myAlleles = new ArrayList(vc.getAlleles().size()); + final List alleleCountsofMLE = new ArrayList(vc.getAlleles().size()); myAlleles.add(vc.getReference()); for ( int i = 0; i < vc.getAlternateAlleles().size(); i++ ) { final Allele alternateAllele = vc.getAlternateAllele(i); @@ -304,16 +363,18 @@ public class UnifiedGenotyperEngine { if ( indexOfAllele == -1 ) continue; - int indexOfBestAC = AFresult.getAlleleCountsOfMAP()[indexOfAllele-1]; + final int indexOfBestAC = AFresult.getAlleleCountsOfMAP()[indexOfAllele-1]; // if the most likely AC is not 0, then this is a good alternate allele to use if ( indexOfBestAC != 0 ) { myAlleles.add(alternateAllele); + alleleCountsofMLE.add(AFresult.getAlleleCountsOfMLE()[indexOfAllele-1]); bestGuessIsRef = false; } // if in GENOTYPE_GIVEN_ALLELES mode, we still want to allow the use of a poor allele else if ( UAC.GenotypingMode == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ) { myAlleles.add(alternateAllele); + alleleCountsofMLE.add(AFresult.getAlleleCountsOfMLE()[indexOfAllele-1]); } } @@ -355,6 +416,7 @@ public class UnifiedGenotyperEngine { // create the genotypes final GenotypesContext genotypes = afcm.get().subsetAlleles(vc, myAlleles, true,ploidy); + builder.genotypes(genotypes); // print out stats if we have a writer if ( verboseWriter != null && !limitedContext ) @@ -363,6 +425,9 @@ public class UnifiedGenotyperEngine { // *** note that calculating strand bias involves overwriting data structures, so we do that last final HashMap attributes = new HashMap(); + // inherit attributed from input vc if requested + if (inheritAttributesFromInputVC) + attributes.putAll(vc.getAttributes()); // if the site was downsampled, record that fact if ( !limitedContext && rawContext.hasPileupBeenDownsampled() ) attributes.put(VCFConstants.DOWNSAMPLED_KEY, true); @@ -370,6 +435,16 @@ public class UnifiedGenotyperEngine { if ( UAC.ANNOTATE_NUMBER_OF_ALLELES_DISCOVERED ) attributes.put(NUMBER_OF_DISCOVERED_ALLELES_KEY, vc.getAlternateAlleles().size()); + // add the MLE AC and AF annotations + if ( alleleCountsofMLE.size() > 0 ) { + attributes.put(VCFConstants.MLE_ALLELE_COUNT_KEY, alleleCountsofMLE); + final double AN = (double)builder.make().getCalledChrCount(); + final ArrayList MLEfrequencies = new ArrayList(alleleCountsofMLE.size()); + for ( int AC : alleleCountsofMLE ) + MLEfrequencies.add((double)AC / AN); + attributes.put(VCFConstants.MLE_ALLELE_FREQUENCY_KEY, MLEfrequencies); + } + if ( !UAC.NO_SLOD && !limitedContext && !bestGuessIsRef ) { //final boolean DEBUG_SLOD = false; @@ -378,10 +453,10 @@ public class UnifiedGenotyperEngine { double overallLog10PofF = AFresult.getLog10PosteriorsMatrixSumWithoutAFzero(); //if ( DEBUG_SLOD ) System.out.println("overallLog10PofF=" + overallLog10PofF); - List alternateAllelesToUse = builder.make().getAlternateAlleles(); + List allAllelesToUse = builder.make().getAlleles(); // the forward lod - VariantContext vcForward = calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.FORWARD, alternateAllelesToUse, false, model); + VariantContext vcForward = calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.FORWARD, allAllelesToUse, false, model); AFresult.reset(); afcm.get().getLog10PNonRef(vcForward, getAlleleFrequencyPriors(model), AFresult); //double[] normalizedLog10Posteriors = MathUtils.normalizeFromLog10(AFresult.log10AlleleFrequencyPosteriors, true); @@ -390,7 +465,7 @@ public class UnifiedGenotyperEngine { //if ( DEBUG_SLOD ) System.out.println("forwardLog10PofNull=" + forwardLog10PofNull + ", forwardLog10PofF=" + forwardLog10PofF); // the reverse lod - VariantContext vcReverse = calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.REVERSE, alternateAllelesToUse, false, model); + VariantContext vcReverse = calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.REVERSE, allAllelesToUse, false, model); AFresult.reset(); afcm.get().getLog10PNonRef(vcReverse, getAlleleFrequencyPriors(model), AFresult); //normalizedLog10Posteriors = MathUtils.normalizeFromLog10(AFresult.log10AlleleFrequencyPosteriors, true); @@ -413,16 +488,15 @@ public class UnifiedGenotyperEngine { } // finish constructing the resulting VC - builder.genotypes(genotypes); builder.attributes(attributes); VariantContext vcCall = builder.make(); // if we are subsetting alleles (either because there were too many or because some were not polymorphic) // then we may need to trim the alleles (because the original VariantContext may have had to pad at the end). - if ( myAlleles.size() != vc.getAlleles().size() ) - vcCall = VariantContextUtils.reverseTrimAlleles(vcCall); + if ( myAlleles.size() != vc.getAlleles().size() && !limitedContext ) // TODO - this function doesn't work with mixed records or records that started as mixed and then became non-mixed + vcCall = VCFAlleleClipper.reverseTrimAlleles(vcCall); - if ( annotationEngine != null && !limitedContext && rawContext.hasBasePileup() ) { + if ( annotationEngine != null && !limitedContext ) { // Note: we want to use the *unfiltered* and *unBAQed* context for the annotations final ReadBackedPileup pileup = rawContext.getBasePileup(); stratifiedContexts = AlignmentContextUtils.splitContextBySampleName(pileup); @@ -441,7 +515,7 @@ public class UnifiedGenotyperEngine { private Map getFilteredAndStratifiedContexts(UnifiedArgumentCollection UAC, ReferenceContext refContext, AlignmentContext rawContext, final GenotypeLikelihoodsCalculationModel.Model model) { - if ( !BaseUtils.isRegularBase(refContext.getBase()) || !rawContext.hasBasePileup() ) + if ( !BaseUtils.isRegularBase(refContext.getBase()) ) return null; Map stratifiedContexts = null; @@ -507,9 +581,7 @@ public class UnifiedGenotyperEngine { int depth = 0; if ( isCovered ) { - AlignmentContext context = contexts.get(sample); - if ( context.hasBasePileup() ) - depth = context.getBasePileup().depthOfCoverage(); + depth = contexts.get(sample).getBasePileup().depthOfCoverage(); } P_of_ref *= 1.0 - (theta / 2.0) * getRefBinomialProb(depth); @@ -570,38 +642,39 @@ public class UnifiedGenotyperEngine { final AlignmentContext rawContext) { final List models = new ArrayList(2); + String modelPrefix = ""; + if ( UAC.GLmodel.name().toUpperCase().contains("BOTH") ) + modelPrefix = UAC.GLmodel.name().toUpperCase().replaceAll("BOTH",""); - if ( rawContext.hasBasePileup() ) { - // if we're genotyping given alleles and we have a requested SNP at this position, do SNP - if ( UAC.GenotypingMode == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ) { - final VariantContext vcInput = UnifiedGenotyperEngine.getVCFromAllelesRod(tracker, refContext, rawContext.getLocation(), false, logger, UAC.alleles); - if ( vcInput == null ) - return models; + // if we're genotyping given alleles and we have a requested SNP at this position, do SNP + if ( UAC.GenotypingMode == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ) { + final VariantContext vcInput = UnifiedGenotyperEngine.getVCFromAllelesRod(tracker, refContext, rawContext.getLocation(), false, logger, UAC.alleles); + if ( vcInput == null ) + return models; - if ( vcInput.isSNP() ) { - // ignore SNPs if the user chose INDEL mode only - if ( UAC.GLmodel == GenotypeLikelihoodsCalculationModel.Model.BOTH ) - models.add(GenotypeLikelihoodsCalculationModel.Model.SNP); - else if ( UAC.GLmodel.name().toUpperCase().contains("SNP") ) - models.add(UAC.GLmodel); - } - else if ( vcInput.isIndel() || vcInput.isMixed() ) { - // ignore INDELs if the user chose SNP mode only - if ( UAC.GLmodel == GenotypeLikelihoodsCalculationModel.Model.BOTH ) - models.add(GenotypeLikelihoodsCalculationModel.Model.INDEL); - else if (UAC.GLmodel.name().toUpperCase().contains("INDEL")) - models.add(UAC.GLmodel); - } - // No support for other types yet + if ( vcInput.isSNP() ) { + // ignore SNPs if the user chose INDEL mode only + if ( UAC.GLmodel.name().toUpperCase().contains("BOTH") ) + models.add(GenotypeLikelihoodsCalculationModel.Model.valueOf(modelPrefix+"SNP")); + else if ( UAC.GLmodel.name().toUpperCase().contains("SNP") ) + models.add(UAC.GLmodel); + } + else if ( vcInput.isIndel() || vcInput.isMixed() ) { + // ignore INDELs if the user chose SNP mode only + if ( UAC.GLmodel.name().toUpperCase().contains("BOTH") ) + models.add(GenotypeLikelihoodsCalculationModel.Model.valueOf(modelPrefix+"INDEL")); + else if (UAC.GLmodel.name().toUpperCase().contains("INDEL")) + models.add(UAC.GLmodel); + } + // No support for other types yet + } + else { + if ( UAC.GLmodel.name().toUpperCase().contains("BOTH") ) { + models.add(GenotypeLikelihoodsCalculationModel.Model.valueOf(modelPrefix+"SNP")); + models.add(GenotypeLikelihoodsCalculationModel.Model.valueOf(modelPrefix+"INDEL")); } else { - if ( UAC.GLmodel == GenotypeLikelihoodsCalculationModel.Model.BOTH ) { - models.add(GenotypeLikelihoodsCalculationModel.Model.SNP); - models.add(GenotypeLikelihoodsCalculationModel.Model.INDEL); - } - else { - models.add(UAC.GLmodel); - } + models.add(UAC.GLmodel); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/IndelRealigner.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/IndelRealigner.java index 8f939fc49..addfc5fab 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/IndelRealigner.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/IndelRealigner.java @@ -103,7 +103,7 @@ import java.util.*; * -T IndelRealigner \ * -targetIntervals intervalListFromRTC.intervals \ * -o realignedBam.bam \ - * [--known /path/to/indels.vcf] \ + * [-known /path/to/indels.vcf] \ * [-compress 0] (this argument recommended to speed up the process *if* this is only a temporary file; otherwise, use the default value) * * @@ -532,8 +532,9 @@ public class IndelRealigner extends ReadWalker { read.getMappingQuality() == 0 || read.getAlignmentStart() == SAMRecord.NO_ALIGNMENT_START || ConstrainedMateFixingManager.iSizeTooBigToMove(read, MAX_ISIZE_FOR_MOVEMENT) || - ReadUtils.is454Read(read); - // TODO -- it would be nice if we could use indels from 454 reads as alternate consenses + ReadUtils.is454Read(read) || + ReadUtils.isIonRead(read); + // TODO -- it would be nice if we could use indels from 454/Ion reads as alternate consenses } private void cleanAndCallMap(ReferenceContext ref, GATKSAMRecord read, ReadMetaDataTracker metaDataTracker, GenomeLoc readLoc) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/PairHMMIndelErrorModel.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/PairHMMIndelErrorModel.java index 08bd51134..f49e78469 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/PairHMMIndelErrorModel.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/PairHMMIndelErrorModel.java @@ -117,7 +117,7 @@ public class PairHMMIndelErrorModel { } - static private void getContextHomopolymerLength(final byte[] refBytes, final int[] hrunArray) { + static private void getContextHomopolymerLength(final byte[] refBytes, final int[] hrunArray) { // compute forward hrun length, example: // AGGTGACCCCCCTGAGAG // 001000012345000000 @@ -164,10 +164,24 @@ public class PairHMMIndelErrorModel { } } } - public synchronized double[] computeReadHaplotypeLikelihoods(ReadBackedPileup pileup, LinkedHashMap haplotypeMap, ReferenceContext ref, int eventLength, HashMap> indelLikelihoodMap){ + + + public synchronized double[] computeDiploidReadHaplotypeLikelihoods(ReadBackedPileup pileup, LinkedHashMap haplotypeMap, ReferenceContext ref, int eventLength, HashMap> indelLikelihoodMap){ final int numHaplotypes = haplotypeMap.size(); - final double readLikelihoods[][] = new double[pileup.getNumberOfElements()][numHaplotypes]; + final int readCounts[] = new int[pileup.getNumberOfElements()]; + final double[][] readLikelihoods = computeGeneralReadHaplotypeLikelihoods(pileup, haplotypeMap, ref, eventLength, indelLikelihoodMap, readCounts); + return getDiploidHaplotypeLikelihoods(numHaplotypes, readCounts, readLikelihoods); + + } + + public synchronized double[][] computeGeneralReadHaplotypeLikelihoods(final ReadBackedPileup pileup, + final LinkedHashMap haplotypeMap, + final ReferenceContext ref, + final int eventLength, + final HashMap> indelLikelihoodMap, + final int[] readCounts) { + final double readLikelihoods[][] = new double[pileup.getNumberOfElements()][haplotypeMap.size()]; final PairHMM pairHMM = new PairHMM(bandedLikelihoods); int readIdx=0; @@ -184,21 +198,19 @@ public class PairHMMIndelErrorModel { } } else { + final int refWindowStart = ref.getWindow().getStart(); + final int refWindowStop = ref.getWindow().getStop(); + if (DEBUG) { System.out.format("Read Name:%s, aln start:%d aln stop:%d orig cigar:%s\n",p.getRead().getReadName(), p.getRead().getAlignmentStart(), p.getRead().getAlignmentEnd(), p.getRead().getCigarString()); } + GATKSAMRecord read = ReadClipper.hardClipAdaptorSequence(p.getRead()); - if (read.isEmpty()) - continue; - - if (read.getSoftEnd() > ref.getWindow().getStop()) + if (!read.isEmpty() && (read.getSoftEnd() > refWindowStop && read.getSoftStart() < refWindowStop)) read = ReadClipper.hardClipByReferenceCoordinatesRightTail(read, ref.getWindow().getStop()); - if (read.isEmpty()) - continue; - - if (read.getSoftStart() < ref.getWindow().getStart()) + if (!read.isEmpty() && (read.getSoftStart() < refWindowStart && read.getSoftEnd() > refWindowStart)) read = ReadClipper.hardClipByReferenceCoordinatesLeftTail (read, ref.getWindow().getStart()); if (read.isEmpty()) @@ -367,7 +379,7 @@ public class PairHMMIndelErrorModel { } - return getHaplotypeLikelihoods(numHaplotypes, readCounts, readLikelihoods); + return readLikelihoods; } private boolean useSoftClippedBases(GATKSAMRecord read, long eventStartPos, int eventLength) { @@ -385,7 +397,7 @@ public class PairHMMIndelErrorModel { return b1.length; } - private static double[] getHaplotypeLikelihoods(final int numHaplotypes, final int readCounts[], final double readLikelihoods[][]) { + private static double[] getDiploidHaplotypeLikelihoods(final int numHaplotypes, final int readCounts[], final double readLikelihoods[][]) { final double[][] haplotypeLikehoodMatrix = new double[numHaplotypes][numHaplotypes]; // todo: MAD 09/26/11 -- I'm almost certain this calculation can be simplified to just a single loop without the intermediate NxN matrix diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreator.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreator.java index a831ec0a6..5f39f4ea8 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreator.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreator.java @@ -133,7 +133,7 @@ public class RealignerTargetCreator extends RodWalker= minReadsAtLocus && - (double)mismatchQualities / (double)totalQualities >= mismatchThreshold ) - hasPointEvent = true; + // look for mismatches + else if ( lookForMismatchEntropy ) { + if ( p.getBase() != refBase ) + mismatchQualities += p.getQual(); + totalQualities += p.getQual(); + } } + // make sure we're supposed to look for high entropy + if ( lookForMismatchEntropy && + pileup.getNumberOfElements() >= minReadsAtLocus && + (double)mismatchQualities / (double)totalQualities >= mismatchThreshold ) + hasPointEvent = true; + // return null if no event occurred if ( !hasIndel && !hasPointEvent ) return null; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/SomaticIndelDetectorWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/SomaticIndelDetector.java similarity index 98% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/indels/SomaticIndelDetectorWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/indels/SomaticIndelDetector.java index 59a7bd01a..21db1412b 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/SomaticIndelDetectorWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/indels/SomaticIndelDetector.java @@ -63,6 +63,7 @@ import org.broadinstitute.sting.utils.interval.OverlappingIntervalIterator; import org.broadinstitute.sting.utils.sam.AlignmentUtils; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.variantcontext.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import java.io.*; import java.util.*; @@ -126,11 +127,11 @@ import java.util.*; */ @ReadFilters({Platform454Filter.class, MappingQualityZeroFilter.class, PlatformUnitFilter.class}) -public class SomaticIndelDetectorWalker extends ReadWalker { +public class SomaticIndelDetector extends ReadWalker { // @Output // PrintStream out; @Output(doc="File to write variants (indels) in VCF format",required=true) - protected VCFWriter vcf_writer = null; + protected VariantContextWriter vcf_writer = null; @Argument(fullName="outputFile", shortName="O", doc="output file name (BED format). DEPRECATED> Use --bed", required=true) @Deprecated @@ -315,6 +316,7 @@ public class SomaticIndelDetectorWalker extends ReadWalker { // first, the basic info headerInfo.add(new VCFHeaderLine("source", "SomaticIndelDetector")); headerInfo.add(new VCFHeaderLine("reference", getToolkit().getArguments().referenceFile.getName())); + headerInfo.add(VCFStandardHeaderLines.getFormatLine(VCFConstants.GENOTYPE_KEY)); // FORMAT and INFO fields // headerInfo.addAll(VCFUtils.getSupportedHeaderStrings()); @@ -615,7 +617,7 @@ public class SomaticIndelDetectorWalker extends ReadWalker { throw new StingException("Read "+read.getReadName()+" from "+getToolkit().getSourceFileForReaderID(getToolkit().getReaderIDForRead(read))+ "has no Normal/Tumor tag associated with it"); -// String rg = (String)read.getAttribute("RG"); +// String rg = (String)read.getExtendedAttribute("RG"); // if ( rg == null ) // throw new UserException.MalformedBam(read, "Read "+read.getReadName()+" has no read group in merged stream. RG is required for somatic calls."); @@ -1112,7 +1114,7 @@ public class SomaticIndelDetectorWalker extends ReadWalker { } } - public void printVCFLine(VCFWriter vcf, IndelPrecall call, boolean discard_event) { + public void printVCFLine(VariantContextWriter vcf, IndelPrecall call, boolean discard_event) { long start = call.getPosition()-1; // If the beginning of the chromosome is deleted (possible, however unlikely), it's unclear how to proceed. @@ -1146,13 +1148,12 @@ public class SomaticIndelDetectorWalker extends ReadWalker { GenotypesContext genotypes = GenotypesContext.create(); for ( String sample : normalSamples ) { - - Map attrs = call.makeStatsAttributes(null); - - if ( ! discard_event ) // we made a call - put actual het genotype here: - genotypes.add(new Genotype(sample,alleles,Genotype.NO_LOG10_PERROR,null,attrs,false)); - else // no call: genotype is ref/ref (but alleles still contain the alt if we observed anything at all) - genotypes.add(new Genotype(sample, homref_alleles,Genotype.NO_LOG10_PERROR,null,attrs,false)); + final GenotypeBuilder gb = new GenotypeBuilder(sample); + gb.attributes(call.makeStatsAttributes(null)); + gb.alleles(! discard_event + ? alleles // we made a call - put actual het genotype here: + : homref_alleles); // no call: genotype is ref/ref (but alleles still contain the alt if we observed anything at all) + genotypes.add(gb.make()); } Set filters = null; @@ -1184,7 +1185,7 @@ public class SomaticIndelDetectorWalker extends ReadWalker { } } - public void printVCFLine(VCFWriter vcf, IndelPrecall nCall, IndelPrecall tCall, boolean discard_event) { + public void printVCFLine(VariantContextWriter vcf, IndelPrecall nCall, IndelPrecall tCall, boolean discard_event) { long start = tCall.getPosition()-1; long stop = start; @@ -1236,11 +1237,11 @@ public class SomaticIndelDetectorWalker extends ReadWalker { GenotypesContext genotypes = GenotypesContext.create(); for ( String sample : normalSamples ) { - genotypes.add(new Genotype(sample, homRefN ? homRefAlleles : alleles,Genotype.NO_LOG10_PERROR,null,attrsNormal,false)); + genotypes.add(GenotypeBuilder.create(sample, homRefN ? homRefAlleles : alleles, attrsNormal)); } for ( String sample : tumorSamples ) { - genotypes.add(new Genotype(sample, homRefT ? homRefAlleles : alleles,Genotype.NO_LOG10_PERROR,null,attrsTumor,false) ); + genotypes.add(GenotypeBuilder.create(sample, homRefT ? homRefAlleles : alleles, attrsTumor)); } Set filters = null; @@ -2142,7 +2143,7 @@ public class SomaticIndelDetectorWalker extends ReadWalker { class VCFIndelAttributes { - public static String ALLELIC_DEPTH_KEY = "AD"; + public static String ALLELIC_DEPTH_KEY = VCFConstants.GENOTYPE_ALLELE_DEPTHS; public static String DEPTH_TOTAL_KEY = VCFConstants.DEPTH_KEY; public static String MAPQ_KEY = "MQS"; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/MergeSegregatingAlternateAllelesVCFWriter.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/MergeSegregatingAlternateAllelesVCFWriter.java index 2f15c165f..5bbc6dacc 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/MergeSegregatingAlternateAllelesVCFWriter.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/MergeSegregatingAlternateAllelesVCFWriter.java @@ -29,7 +29,7 @@ import org.apache.log4j.Logger; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; @@ -41,8 +41,8 @@ import java.util.*; // Streams in VariantContext objects and streams out VariantContexts produced by merging phased segregating polymorphisms into MNP VariantContexts -class MergeSegregatingAlternateAllelesVCFWriter implements VCFWriter { - private VCFWriter innerWriter; +class MergeSegregatingAlternateAllelesVCFWriter implements VariantContextWriter { + private VariantContextWriter innerWriter; private GenomeLocParser genomeLocParser; @@ -68,7 +68,7 @@ class MergeSegregatingAlternateAllelesVCFWriter implements VCFWriter { // Should we call innerWriter.close() in close() private boolean takeOwnershipOfInner; - public MergeSegregatingAlternateAllelesVCFWriter(VCFWriter innerWriter, GenomeLocParser genomeLocParser, File referenceFile, VariantContextMergeRule vcMergeRule, PhasingUtils.AlleleMergeRule alleleMergeRule, String singleSample, boolean emitOnlyMergedRecords, Logger logger, boolean takeOwnershipOfInner, boolean trackAltAlleleStats) { + public MergeSegregatingAlternateAllelesVCFWriter(VariantContextWriter innerWriter, GenomeLocParser genomeLocParser, File referenceFile, VariantContextMergeRule vcMergeRule, PhasingUtils.AlleleMergeRule alleleMergeRule, String singleSample, boolean emitOnlyMergedRecords, Logger logger, boolean takeOwnershipOfInner, boolean trackAltAlleleStats) { this.innerWriter = innerWriter; this.genomeLocParser = genomeLocParser; try { @@ -94,7 +94,7 @@ class MergeSegregatingAlternateAllelesVCFWriter implements VCFWriter { this.takeOwnershipOfInner = takeOwnershipOfInner; } - public MergeSegregatingAlternateAllelesVCFWriter(VCFWriter innerWriter, GenomeLocParser genomeLocParser, File referenceFile, int maxGenomicDistanceForMNP, Logger logger, boolean takeOwnershipOfInner) { + public MergeSegregatingAlternateAllelesVCFWriter(VariantContextWriter innerWriter, GenomeLocParser genomeLocParser, File referenceFile, int maxGenomicDistanceForMNP, Logger logger, boolean takeOwnershipOfInner) { this(innerWriter, genomeLocParser, referenceFile, new DistanceMergeRule(maxGenomicDistanceForMNP, genomeLocParser), new SegregatingMNPmergeAllelesRule(), null, false, logger, takeOwnershipOfInner, true); // by default: consider all samples, emit all records, keep track of alt allele statistics } @@ -102,7 +102,7 @@ class MergeSegregatingAlternateAllelesVCFWriter implements VCFWriter { if (useSingleSample != null) { // only want to output context for one sample Set singSampSet = new TreeSet(); singSampSet.add(useSingleSample); - header = new VCFHeader(header.getMetaData(), singSampSet); + header = new VCFHeader(header.getMetaDataInSortedOrder(), singSampSet); } innerWriter.writeHeader(header); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmission.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmission.java index fef34d5fd..4760893ca 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmission.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmission.java @@ -12,6 +12,7 @@ import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.*; @@ -86,7 +87,7 @@ public class PhaseByTransmission extends RodWalker, HashMa private boolean fatherFAlleleFirst=false; @Output - protected VCFWriter vcfWriter = null; + protected VariantContextWriter vcfWriter = null; private final String TRANSMISSION_PROBABILITY_TAG_NAME = "TP"; private final String SOURCE_NAME = "PhaseByTransmission"; @@ -96,10 +97,10 @@ public class PhaseByTransmission extends RodWalker, HashMa private ArrayList trios = new ArrayList(); //Matrix of priors for all genotype combinations - private EnumMap>> mvCountMatrix; + private EnumMap>> mvCountMatrix; //Matrix of allele transmission - private EnumMap>> transmissionMatrix; + private EnumMap>> transmissionMatrix; //Metrics counters hash keys private final Byte NUM_TRIO_GENOTYPES_CALLED = 0; @@ -137,17 +138,17 @@ public class PhaseByTransmission extends RodWalker, HashMa private EnumMap trioPhasedGenotypes = new EnumMap(FamilyMember.class); - private ArrayList getAlleles(Genotype.Type genotype){ + private ArrayList getAlleles(GenotypeType genotype){ ArrayList alleles = new ArrayList(2); - if(genotype == Genotype.Type.HOM_REF){ + if(genotype == GenotypeType.HOM_REF){ alleles.add(REF); alleles.add(REF); } - else if(genotype == Genotype.Type.HET){ + else if(genotype == GenotypeType.HET){ alleles.add(REF); alleles.add(VAR); } - else if(genotype == Genotype.Type.HOM_VAR){ + else if(genotype == GenotypeType.HOM_VAR){ alleles.add(VAR); alleles.add(VAR); } @@ -157,27 +158,34 @@ public class PhaseByTransmission extends RodWalker, HashMa return alleles; } - private boolean isPhasable(Genotype.Type genotype){ - return genotype == Genotype.Type.HOM_REF || genotype == Genotype.Type.HET || genotype == Genotype.Type.HOM_VAR; + private boolean isPhasable(GenotypeType genotype){ + return genotype == GenotypeType.HOM_REF || genotype == GenotypeType.HET || genotype == GenotypeType.HOM_VAR; } //Create a new Genotype based on information from a single individual //Homozygous genotypes will be set as phased, heterozygous won't be - private void phaseSingleIndividualAlleles(Genotype.Type genotype, FamilyMember familyMember){ - if(genotype == Genotype.Type.HOM_REF || genotype == Genotype.Type.HOM_VAR){ - trioPhasedGenotypes.put(familyMember, new Genotype(DUMMY_NAME, getAlleles(genotype), Genotype.NO_LOG10_PERROR, null, null, true)); - } - else - trioPhasedGenotypes.put(familyMember, new Genotype(DUMMY_NAME,getAlleles(genotype),Genotype.NO_LOG10_PERROR,null,null,false)); + private void phaseSingleIndividualAlleles(GenotypeType genotype, FamilyMember familyMember){ + boolean phase = genotype == GenotypeType.HOM_REF || genotype == GenotypeType.HOM_VAR; + trioPhasedGenotypes.put(familyMember, makeGenotype(genotype, phase)); + } + + private Genotype makeGenotype(final GenotypeType type, boolean phase) { + return makeGenotype(getAlleles(type), phase); + } + + private Genotype makeGenotype(final List alleles, boolean phase) { + final GenotypeBuilder gb = new GenotypeBuilder(DUMMY_NAME, alleles); + gb.phased(phase); + return gb.make(); } //Find the phase for a parent/child pair - private void phasePairAlleles(Genotype.Type parentGenotype, Genotype.Type childGenotype, FamilyMember parent){ + private void phasePairAlleles(GenotypeType parentGenotype, GenotypeType childGenotype, FamilyMember parent){ //Special case for Het/Het as it is ambiguous - if(parentGenotype == Genotype.Type.HET && childGenotype == Genotype.Type.HET){ - trioPhasedGenotypes.put(parent, new Genotype(DUMMY_NAME, getAlleles(parentGenotype), Genotype.NO_LOG10_PERROR, null, null, false)); - trioPhasedGenotypes.put(FamilyMember.CHILD, new Genotype(DUMMY_NAME,getAlleles(childGenotype),Genotype.NO_LOG10_PERROR,null,null,false)); + if(parentGenotype == GenotypeType.HET && childGenotype == GenotypeType.HET){ + trioPhasedGenotypes.put(parent, makeGenotype(parentGenotype, false)); + trioPhasedGenotypes.put(FamilyMember.CHILD, makeGenotype(childGenotype, false)); return; } @@ -189,34 +197,34 @@ public class PhaseByTransmission extends RodWalker, HashMa //If there is a possible phasing between the parent and child => phase int childTransmittedAlleleIndex = childAlleles.indexOf(parentAlleles.get(0)); if(childTransmittedAlleleIndex > -1){ - trioPhasedGenotypes.put(parent, new Genotype(DUMMY_NAME, parentAlleles, Genotype.NO_LOG10_PERROR, null, null, true)); + trioPhasedGenotypes.put(parent, makeGenotype(parentAlleles, true)); childPhasedAlleles.add(childAlleles.remove(childTransmittedAlleleIndex)); if(parent.equals(FamilyMember.MOTHER)) childPhasedAlleles.add(childAlleles.get(0)); else childPhasedAlleles.add(0,childAlleles.get(0)); - trioPhasedGenotypes.put(FamilyMember.CHILD, new Genotype(DUMMY_NAME, childPhasedAlleles, Genotype.NO_LOG10_PERROR, null, null, true)); + trioPhasedGenotypes.put(FamilyMember.CHILD, makeGenotype(childPhasedAlleles, true)); } else if((childTransmittedAlleleIndex = childAlleles.indexOf(parentAlleles.get(1))) > -1){ parentPhasedAlleles.add(parentAlleles.get(1)); parentPhasedAlleles.add(parentAlleles.get(0)); - trioPhasedGenotypes.put(parent, new Genotype(DUMMY_NAME, parentPhasedAlleles, Genotype.NO_LOG10_PERROR, null, null, true)); + trioPhasedGenotypes.put(parent, makeGenotype(parentPhasedAlleles, true)); childPhasedAlleles.add(childAlleles.remove(childTransmittedAlleleIndex)); if(parent.equals(FamilyMember.MOTHER)) childPhasedAlleles.add(childAlleles.get(0)); else childPhasedAlleles.add(0,childAlleles.get(0)); - trioPhasedGenotypes.put(FamilyMember.CHILD, new Genotype(DUMMY_NAME, childPhasedAlleles, Genotype.NO_LOG10_PERROR, null, null, true)); + trioPhasedGenotypes.put(FamilyMember.CHILD, makeGenotype(childPhasedAlleles, true)); } //This is a Mendelian Violation => Do not phase else{ - trioPhasedGenotypes.put(parent, new Genotype(DUMMY_NAME,getAlleles(parentGenotype),Genotype.NO_LOG10_PERROR,null,null,false)); - trioPhasedGenotypes.put(FamilyMember.CHILD, new Genotype(DUMMY_NAME,getAlleles(childGenotype),Genotype.NO_LOG10_PERROR,null,null,false)); + trioPhasedGenotypes.put(parent, makeGenotype(parentGenotype, false)); + trioPhasedGenotypes.put(FamilyMember.CHILD, makeGenotype(childGenotype, false)); } } //Phases a family by transmission - private void phaseFamilyAlleles(Genotype.Type mother, Genotype.Type father, Genotype.Type child){ + private void phaseFamilyAlleles(GenotypeType mother, GenotypeType father, GenotypeType child){ Set> possiblePhasedChildGenotypes = new HashSet>(); ArrayList motherAlleles = getAlleles(mother); @@ -245,7 +253,7 @@ public class PhaseByTransmission extends RodWalker, HashMa motherPhasedAlleles.add(motherAlleles.get(0)); else motherPhasedAlleles.add(motherAlleles.get(1)); - trioPhasedGenotypes.put(FamilyMember.MOTHER, new Genotype(DUMMY_NAME,motherPhasedAlleles,Genotype.NO_LOG10_PERROR,null,null,true)); + trioPhasedGenotypes.put(FamilyMember.MOTHER, makeGenotype(motherPhasedAlleles, true)); //Create father's genotype ArrayList fatherPhasedAlleles = new ArrayList(2); @@ -254,10 +262,10 @@ public class PhaseByTransmission extends RodWalker, HashMa fatherPhasedAlleles.add(fatherAlleles.get(0)); else fatherPhasedAlleles.add(fatherAlleles.get(1)); - trioPhasedGenotypes.put(FamilyMember.FATHER, new Genotype(DUMMY_NAME,fatherPhasedAlleles,Genotype.NO_LOG10_PERROR,null,null,true)); + trioPhasedGenotypes.put(FamilyMember.FATHER, makeGenotype(fatherPhasedAlleles,true)); //Create child's genotype - trioPhasedGenotypes.put(FamilyMember.CHILD, new Genotype(DUMMY_NAME,childPhasedAllelesAlleles,Genotype.NO_LOG10_PERROR,null,null,true)); + trioPhasedGenotypes.put(FamilyMember.CHILD, makeGenotype(childPhasedAllelesAlleles,true)); //Once a phased combination is found; exit return; @@ -265,16 +273,16 @@ public class PhaseByTransmission extends RodWalker, HashMa } //If this is reached then no phasing could be found - trioPhasedGenotypes.put(FamilyMember.MOTHER, new Genotype(DUMMY_NAME,getAlleles(mother),Genotype.NO_LOG10_PERROR,null,null,false)); - trioPhasedGenotypes.put(FamilyMember.FATHER, new Genotype(DUMMY_NAME,getAlleles(father),Genotype.NO_LOG10_PERROR,null,null,false)); - trioPhasedGenotypes.put(FamilyMember.CHILD, new Genotype(DUMMY_NAME,getAlleles(child),Genotype.NO_LOG10_PERROR,null,null,false)); + trioPhasedGenotypes.put(FamilyMember.MOTHER, makeGenotype(mother,false)); + trioPhasedGenotypes.put(FamilyMember.FATHER, makeGenotype(father,false)); + trioPhasedGenotypes.put(FamilyMember.CHILD, makeGenotype(child,false)); } /* Constructor: Creates a conceptual trio genotype combination from the given genotypes. If one or more genotypes are set as NO_CALL or UNAVAILABLE, it will phase them like a pair or single individual. */ - public TrioPhase(Genotype.Type mother, Genotype.Type father, Genotype.Type child){ + public TrioPhase(GenotypeType mother, GenotypeType father, GenotypeType child){ //Take care of cases where one or more family members are no call if(!isPhasable(child)){ @@ -296,7 +304,7 @@ public class PhaseByTransmission extends RodWalker, HashMa phaseSingleIndividualAlleles(father, FamilyMember.FATHER); } //Special case for Het/Het/Het as it is ambiguous - else if(mother == Genotype.Type.HET && father == Genotype.Type.HET && child == Genotype.Type.HET){ + else if(mother == GenotypeType.HET && father == GenotypeType.HET && child == GenotypeType.HET){ phaseSingleIndividualAlleles(mother, FamilyMember.MOTHER); phaseSingleIndividualAlleles(father, FamilyMember.FATHER); phaseSingleIndividualAlleles(child, FamilyMember.CHILD); @@ -310,7 +318,7 @@ public class PhaseByTransmission extends RodWalker, HashMa if(fatherFAlleleFirst && trioPhasedGenotypes.get(FamilyMember.CHILD).isPhased()){ ArrayList childAlleles = new ArrayList(trioPhasedGenotypes.get(FamilyMember.CHILD).getAlleles()); childAlleles.add(childAlleles.remove(0)); - trioPhasedGenotypes.put(FamilyMember.CHILD,new Genotype(DUMMY_NAME,childAlleles,Genotype.NO_LOG10_PERROR,null,null,true)); + trioPhasedGenotypes.put(FamilyMember.CHILD,makeGenotype(childAlleles,true)); } } @@ -334,9 +342,10 @@ public class PhaseByTransmission extends RodWalker, HashMa private Genotype getPhasedGenotype(Allele refAllele, Allele altAllele, Genotype genotype, double transmissionProb, Genotype phasedGenotype){ int phredScoreTransmission = -1; - if(transmissionProb != NO_TRANSMISSION_PROB) - phredScoreTransmission = MathUtils.probabilityToPhredScale(1-(transmissionProb)); - + if(transmissionProb != NO_TRANSMISSION_PROB){ + double dphredScoreTransmission = MathUtils.log10ProbabilityToPhredScale(Math.log10(1-(transmissionProb))); + phredScoreTransmission = dphredScoreTransmission < Byte.MAX_VALUE ? (byte)dphredScoreTransmission : Byte.MAX_VALUE; + } //Handle null, missing and unavailable genotypes //Note that only cases where a null/missing/unavailable genotype was passed in the first place can lead to a null/missing/unavailable //genotype so it is safe to return the original genotype in this case. @@ -346,7 +355,7 @@ public class PhaseByTransmission extends RodWalker, HashMa //Add the transmission probability Map genotypeAttributes = new HashMap(); - genotypeAttributes.putAll(genotype.getAttributes()); + genotypeAttributes.putAll(genotype.getExtendedAttributes()); if(transmissionProb>NO_TRANSMISSION_PROB) genotypeAttributes.put(TRANSMISSION_PROBABILITY_TAG_NAME, phredScoreTransmission); @@ -369,7 +378,10 @@ public class PhaseByTransmission extends RodWalker, HashMa else log10Error = genotype.getLikelihoods().getLog10GQ(phasedGenotype.getType()); - return new Genotype(genotype.getSampleName(), phasedAlleles, log10Error, null, genotypeAttributes, phasedGenotype.isPhased()); + return new GenotypeBuilder(genotype).alleles(phasedAlleles) + .log10PError(log10Error) + .attributes(genotypeAttributes) + .phased(phasedGenotype.isPhased()).make(); } @@ -399,7 +411,7 @@ public class PhaseByTransmission extends RodWalker, HashMa buildMatrices(); if(mvFile != null) - mvFile.println("#CHROM\tPOS\tFILTER\tAC\tFAMILY\tTP\tMOTHER_GT\tMOTHER_DP\tMOTHER_RAD\tMOTHER_AAD\tMOTHER_HRPL\tMOTHER_HETPL\tMOTHER_HAPL\tFATHER_GT\tFATHER_DP\tFATHER_RAD\tFATHER_AAD\tFATHER_HRPL\tFATHER_HETPL\tFATHER_HAPL\tCHILD_GT\tCHILD_DP\tCHILD_RAD\tCHILD_AAD\tCHILD_HRPL\tCHILD_HETPL\tCHILD_HAPL"); + mvFile.println("CHROM\tPOS\tAC\tFAMILY\tTP\tMOTHER_GT\tMOTHER_DP\tMOTHER_AD\tMOTHER_PL\tFATHER_GT\tFATHER_DP\tFATHER_AD\tFATHER_PL\tCHILD_GT\tCHILD_DP\tCHILD_AD\tCHILD_PL"); } @@ -437,15 +449,15 @@ public class PhaseByTransmission extends RodWalker, HashMa //Create the transmission matrices private void buildMatrices(){ - mvCountMatrix = new EnumMap>>(Genotype.Type.class); - transmissionMatrix = new EnumMap>>(Genotype.Type.class); - for(Genotype.Type mother : Genotype.Type.values()){ - mvCountMatrix.put(mother,new EnumMap>(Genotype.Type.class)); - transmissionMatrix.put(mother,new EnumMap>(Genotype.Type.class)); - for(Genotype.Type father : Genotype.Type.values()){ - mvCountMatrix.get(mother).put(father,new EnumMap(Genotype.Type.class)); - transmissionMatrix.get(mother).put(father,new EnumMap(Genotype.Type.class)); - for(Genotype.Type child : Genotype.Type.values()){ + mvCountMatrix = new EnumMap>>(GenotypeType.class); + transmissionMatrix = new EnumMap>>(GenotypeType.class); + for(GenotypeType mother : GenotypeType.values()){ + mvCountMatrix.put(mother,new EnumMap>(GenotypeType.class)); + transmissionMatrix.put(mother,new EnumMap>(GenotypeType.class)); + for(GenotypeType father : GenotypeType.values()){ + mvCountMatrix.get(mother).put(father,new EnumMap(GenotypeType.class)); + transmissionMatrix.get(mother).put(father,new EnumMap(GenotypeType.class)); + for(GenotypeType child : GenotypeType.values()){ mvCountMatrix.get(mother).get(father).put(child, getCombinationMVCount(mother, father, child)); transmissionMatrix.get(mother).get(father).put(child,new TrioPhase(mother,father,child)); } @@ -456,16 +468,16 @@ public class PhaseByTransmission extends RodWalker, HashMa //Returns the number of Mendelian Violations for a given genotype combination. //If one of the parents genotype is missing, it will consider it as a parent/child pair //If the child genotype or both parents genotypes are missing, 0 is returned. - private int getCombinationMVCount(Genotype.Type mother, Genotype.Type father, Genotype.Type child){ + private int getCombinationMVCount(GenotypeType mother, GenotypeType father, GenotypeType child){ //Child is no call => No MV - if(child == Genotype.Type.NO_CALL || child == Genotype.Type.UNAVAILABLE) + if(child == GenotypeType.NO_CALL || child == GenotypeType.UNAVAILABLE) return 0; //Add parents with genotypes for the evaluation - ArrayList parents = new ArrayList(); - if (!(mother == Genotype.Type.NO_CALL || mother == Genotype.Type.UNAVAILABLE)) + ArrayList parents = new ArrayList(); + if (!(mother == GenotypeType.NO_CALL || mother == GenotypeType.UNAVAILABLE)) parents.add(mother); - if (!(father == Genotype.Type.NO_CALL || father == Genotype.Type.UNAVAILABLE)) + if (!(father == GenotypeType.NO_CALL || father == GenotypeType.UNAVAILABLE)) parents.add(father); //Both parents no calls => No MV @@ -476,35 +488,35 @@ public class PhaseByTransmission extends RodWalker, HashMa int parentsNumRefAlleles = 0; int parentsNumAltAlleles = 0; - for(Genotype.Type parent : parents){ - if(parent == Genotype.Type.HOM_REF){ + for(GenotypeType parent : parents){ + if(parent == GenotypeType.HOM_REF){ parentsNumRefAlleles++; } - else if(parent == Genotype.Type.HET){ + else if(parent == GenotypeType.HET){ parentsNumRefAlleles++; parentsNumAltAlleles++; } - else if(parent == Genotype.Type.HOM_VAR){ + else if(parent == GenotypeType.HOM_VAR){ parentsNumAltAlleles++; } } //Case Child is HomRef - if(child == Genotype.Type.HOM_REF){ + if(child == GenotypeType.HOM_REF){ if(parentsNumRefAlleles == parents.size()) return 0; else return (parents.size()-parentsNumRefAlleles); } //Case child is HomVar - if(child == Genotype.Type.HOM_VAR){ + if(child == GenotypeType.HOM_VAR){ if(parentsNumAltAlleles == parents.size()) return 0; else return parents.size()-parentsNumAltAlleles; } //Case child is Het - if(child == Genotype.Type.HET && ((parentsNumRefAlleles > 0 && parentsNumAltAlleles > 0) || parents.size()<2)) + if(child == GenotypeType.HET && ((parentsNumRefAlleles > 0 && parentsNumAltAlleles > 0) || parents.size()<2)) return 0; //MV @@ -512,7 +524,7 @@ public class PhaseByTransmission extends RodWalker, HashMa } //Given two trio genotypes combinations, returns the number of different genotypes between the two combinations. - private int countFamilyGenotypeDiff(Genotype.Type motherOriginal,Genotype.Type fatherOriginal,Genotype.Type childOriginal,Genotype.Type motherNew,Genotype.Type fatherNew,Genotype.Type childNew){ + private int countFamilyGenotypeDiff(GenotypeType motherOriginal,GenotypeType fatherOriginal,GenotypeType childOriginal,GenotypeType motherNew,GenotypeType fatherNew,GenotypeType childNew){ int count = 0; if(motherOriginal!=motherNew) count++; @@ -525,21 +537,21 @@ public class PhaseByTransmission extends RodWalker, HashMa //Get a Map of genotype likelihoods. //In case of null, unavailable or no call, all likelihoods are 1/3. - private EnumMap getLikelihoodsAsMapSafeNull(Genotype genotype){ + private EnumMap getLikelihoodsAsMapSafeNull(Genotype genotype){ if(genotype == null || !genotype.isCalled()){ - EnumMap likelihoods = new EnumMap(Genotype.Type.class); - likelihoods.put(Genotype.Type.HOM_REF,1.0/3.0); - likelihoods.put(Genotype.Type.HET,1.0/3.0); - likelihoods.put(Genotype.Type.HOM_VAR,1.0/3.0); + EnumMap likelihoods = new EnumMap(GenotypeType.class); + likelihoods.put(GenotypeType.HOM_REF,1.0/3.0); + likelihoods.put(GenotypeType.HET,1.0/3.0); + likelihoods.put(GenotypeType.HOM_VAR,1.0/3.0); return likelihoods; } return genotype.getLikelihoods().getAsMap(true); } - //Returns the Genotype.Type; returns UNVAILABLE if given null - private Genotype.Type getTypeSafeNull(Genotype genotype){ + //Returns the GenotypeType; returns UNVAILABLE if given null + private GenotypeType getTypeSafeNull(Genotype genotype){ if(genotype == null) - return Genotype.Type.UNAVAILABLE; + return GenotypeType.UNAVAILABLE; return genotype.getType(); } @@ -560,18 +572,18 @@ public class PhaseByTransmission extends RodWalker, HashMa //Always assign the first parent as the parent having genotype information in pairs //Always assign the mother as the first parent in trios int parentsCalled = 0; - Map firstParentLikelihoods; - Map secondParentLikelihoods; - ArrayList bestFirstParentGenotype = new ArrayList(); - ArrayList bestSecondParentGenotype = new ArrayList(); - ArrayList bestChildGenotype = new ArrayList(); - Genotype.Type pairSecondParentGenotype = null; + Map firstParentLikelihoods; + Map secondParentLikelihoods; + ArrayList bestFirstParentGenotype = new ArrayList(); + ArrayList bestSecondParentGenotype = new ArrayList(); + ArrayList bestChildGenotype = new ArrayList(); + GenotypeType pairSecondParentGenotype = null; if(mother == null || !mother.isCalled()){ firstParentLikelihoods = getLikelihoodsAsMapSafeNull(father); secondParentLikelihoods = getLikelihoodsAsMapSafeNull(mother); bestFirstParentGenotype.add(getTypeSafeNull(father)); bestSecondParentGenotype.add(getTypeSafeNull(mother)); - pairSecondParentGenotype = mother == null ? Genotype.Type.UNAVAILABLE : mother.getType(); + pairSecondParentGenotype = mother == null ? GenotypeType.UNAVAILABLE : mother.getType(); if(father != null && father.isCalled()) parentsCalled = 1; } @@ -582,12 +594,12 @@ public class PhaseByTransmission extends RodWalker, HashMa bestSecondParentGenotype.add(getTypeSafeNull(father)); if(father == null || !father.isCalled()){ parentsCalled = 1; - pairSecondParentGenotype = father == null ? Genotype.Type.UNAVAILABLE : father.getType(); + pairSecondParentGenotype = father == null ? GenotypeType.UNAVAILABLE : father.getType(); }else{ parentsCalled = 2; } } - Map childLikelihoods = getLikelihoodsAsMapSafeNull(child); + Map childLikelihoods = getLikelihoodsAsMapSafeNull(child); bestChildGenotype.add(getTypeSafeNull(child)); //Prior vars @@ -603,9 +615,9 @@ public class PhaseByTransmission extends RodWalker, HashMa int mvCount; int cumulativeMVCount = 0; double configurationLikelihood = 0; - for(Map.Entry childGenotype : childLikelihoods.entrySet()){ - for(Map.Entry firstParentGenotype : firstParentLikelihoods.entrySet()){ - for(Map.Entry secondParentGenotype : secondParentLikelihoods.entrySet()){ + for(Map.Entry childGenotype : childLikelihoods.entrySet()){ + for(Map.Entry firstParentGenotype : firstParentLikelihoods.entrySet()){ + for(Map.Entry secondParentGenotype : secondParentLikelihoods.entrySet()){ mvCount = mvCountMatrix.get(firstParentGenotype.getKey()).get(secondParentGenotype.getKey()).get(childGenotype.getKey()); //For parent/child pairs, sum over the possible genotype configurations of the missing parent if(parentsCalled<2){ @@ -765,7 +777,7 @@ public class PhaseByTransmission extends RodWalker, HashMa return metricsCounters; final VariantContext vc = tracker.getFirstValue(variantCollection.variants, context.getLocation()); - if (vc == null) + if (vc == null || !vc.isBiallelic()) return metricsCounters; final VariantContextBuilder builder = new VariantContextBuilder(vc); @@ -794,7 +806,11 @@ public class PhaseByTransmission extends RodWalker, HashMa if(father != null){ genotypesContext.replace(phasedFather); updateTrioMetricsCounters(phasedMother,phasedFather,phasedChild,mvCount,metricsCounters); - mvfLine = String.format("%s\t%d\t%s\t%s\t%s\t%s\t%s:%s:%s:%s\t%s:%s:%s:%s\t%s:%s:%s:%s",vc.getChr(),vc.getStart(),vc.getFilters(),vc.getAttribute(VCFConstants.ALLELE_COUNT_KEY),sample.toString(),phasedMother.getAttribute(TRANSMISSION_PROBABILITY_TAG_NAME),phasedMother.getGenotypeString(),phasedMother.getAttribute(VCFConstants.DEPTH_KEY),phasedMother.getAttribute("AD"),phasedMother.getLikelihoods().toString(),phasedFather.getGenotypeString(),phasedFather.getAttribute(VCFConstants.DEPTH_KEY),phasedFather.getAttribute("AD"),phasedFather.getLikelihoods().toString(),phasedChild.getGenotypeString(),phasedChild.getAttribute(VCFConstants.DEPTH_KEY),phasedChild.getAttribute("AD"),phasedChild.getLikelihoods().toString()); + mvfLine = String.format("%s\t%d\t%s\t%s\t%s\t%s\t%s\t%s\t%s\t%s\t%s\t%s\t%s\t%s\t%s\t%s\t%s", + vc.getChr(),vc.getStart(),vc.getAttribute(VCFConstants.ALLELE_COUNT_KEY),sample.getFamilyID(), + phasedMother.getExtendedAttribute(TRANSMISSION_PROBABILITY_TAG_NAME),phasedMother.getGenotypeString(),phasedMother.getDP(),Arrays.asList(phasedMother.getAD()), + phasedMother.getLikelihoodsString(), phasedFather.getGenotypeString(),phasedFather.getDP(),Arrays.asList(phasedFather.getAD()),phasedFather.getLikelihoodsString(), + phasedChild.getGenotypeString(),Arrays.asList(phasedChild.getDP()),phasedChild.getAD(),phasedChild.getLikelihoodsString()); if(!(phasedMother.getType()==mother.getType() && phasedFather.getType()==father.getType() && phasedChild.getType()==child.getType())) metricsCounters.put(NUM_GENOTYPES_MODIFIED,metricsCounters.get(NUM_GENOTYPES_MODIFIED)+1); } @@ -802,7 +818,10 @@ public class PhaseByTransmission extends RodWalker, HashMa updatePairMetricsCounters(phasedMother,phasedChild,mvCount,metricsCounters); if(!(phasedMother.getType()==mother.getType() && phasedChild.getType()==child.getType())) metricsCounters.put(NUM_GENOTYPES_MODIFIED,metricsCounters.get(NUM_GENOTYPES_MODIFIED)+1); - mvfLine = String.format("%s\t%d\t%s\t%s\t%s\t%s\t%s:%s:%s:%s\t.:.:.:.\t%s:%s:%s:%s",vc.getChr(),vc.getStart(),vc.getFilters(),vc.getAttribute(VCFConstants.ALLELE_COUNT_KEY),sample.toString(),phasedMother.getAttribute(TRANSMISSION_PROBABILITY_TAG_NAME),phasedMother.getGenotypeString(),phasedMother.getAttribute(VCFConstants.DEPTH_KEY),phasedMother.getAttribute("AD"),phasedMother.getLikelihoods().toString(),phasedChild.getGenotypeString(),phasedChild.getAttribute(VCFConstants.DEPTH_KEY),phasedChild.getAttribute("AD"),phasedChild.getLikelihoods().toString()); + mvfLine = String.format("%s\t%d\t%s\t%s\t%s\t%s:%s:%s:%s\t.\t.\t.\t.\t%s\t%s\t%s\t%s", + vc.getChr(),vc.getStart(),vc.getAttribute(VCFConstants.ALLELE_COUNT_KEY),sample.getFamilyID(), + phasedMother.getExtendedAttribute(TRANSMISSION_PROBABILITY_TAG_NAME),phasedMother.getGenotypeString(),phasedMother.getDP(),Arrays.asList(phasedMother.getAD()),phasedMother.getLikelihoodsString(), + phasedChild.getGenotypeString(),phasedChild.getDP(),Arrays.asList(phasedChild.getAD()),phasedChild.getLikelihoodsString()); } } else{ @@ -810,12 +829,15 @@ public class PhaseByTransmission extends RodWalker, HashMa updatePairMetricsCounters(phasedFather,phasedChild,mvCount,metricsCounters); if(!(phasedFather.getType()==father.getType() && phasedChild.getType()==child.getType())) metricsCounters.put(NUM_GENOTYPES_MODIFIED,metricsCounters.get(NUM_GENOTYPES_MODIFIED)+1); - mvfLine = String.format("%s\t%d\t%s\t%s\t%s\t%s\t.:.:.:.\t%s:%s:%s:%s\t%s:%s:%s:%s",vc.getChr(),vc.getStart(),vc.getFilters(),vc.getAttribute(VCFConstants.ALLELE_COUNT_KEY),sample.toString(),phasedFather.getAttribute(TRANSMISSION_PROBABILITY_TAG_NAME),phasedFather.getGenotypeString(),phasedFather.getAttribute(VCFConstants.DEPTH_KEY),phasedFather.getAttribute("AD"),phasedFather.getLikelihoods().toString(),phasedChild.getGenotypeString(),phasedChild.getAttribute(VCFConstants.DEPTH_KEY),phasedChild.getAttribute("AD"),phasedChild.getLikelihoods().toString()); + mvfLine = String.format("%s\t%d\t%s\t%s\t%s\t.\t.\t.\t.\t%s\t%s\t%s\t%s\t%s\t%s\t%s\t%s", + vc.getChr(),vc.getStart(),vc.getAttribute(VCFConstants.ALLELE_COUNT_KEY),sample.getFamilyID(), + phasedFather.getExtendedAttribute(TRANSMISSION_PROBABILITY_TAG_NAME),phasedFather.getGenotypeString(),phasedFather.getDP(),Arrays.asList(phasedFather.getAD()),phasedFather.getLikelihoodsString(), + phasedChild.getGenotypeString(),phasedChild.getDP(),Arrays.asList(phasedChild.getAD()),phasedChild.getLikelihoodsString()); } //Report violation if set so //TODO: ADAPT FOR PAIRS TOO!! - if(mvCount>0 && mvFile != null) + if(mvCount>0 && mvFile != null && !vc.isFiltered()) mvFile.println(mvfLine); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhasingUtils.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhasingUtils.java index 75d0773f1..630d99ce9 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhasingUtils.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhasingUtils.java @@ -109,14 +109,13 @@ class PhasingUtils { } double mergedGQ = Math.max(gt1.getLog10PError(), gt2.getLog10PError()); - Set mergedGtFilters = new HashSet(); // Since gt1 and gt2 were unfiltered, the Genotype remains unfiltered Map mergedGtAttribs = new HashMap(); PhaseAndQuality phaseQual = calcPhaseForMergedGenotypes(gt1, gt2); if (phaseQual.PQ != null) - mergedGtAttribs.put(ReadBackedPhasingWalker.PQ_KEY, phaseQual.PQ); + mergedGtAttribs.put(ReadBackedPhasing.PQ_KEY, phaseQual.PQ); - Genotype mergedGt = new Genotype(gt1.getSampleName(), mergedAllelesForSample, mergedGQ, mergedGtFilters, mergedGtAttribs, phaseQual.isPhased); + Genotype mergedGt = new GenotypeBuilder(gt1.getSampleName(), mergedAllelesForSample).log10PError(mergedGQ).attributes(mergedGtAttribs).phased(phaseQual.isPhased).make(); mergedGenotypes.add(mergedGt); } @@ -374,7 +373,7 @@ class PhasingUtils { public PhaseAndQuality(Genotype gt) { this.isPhased = gt.isPhased(); if (this.isPhased) { - this.PQ = gt.getAttributeAsDouble(ReadBackedPhasingWalker.PQ_KEY, -1); + this.PQ = gt.getAttributeAsDouble(ReadBackedPhasing.PQ_KEY, -1); if ( this.PQ == -1 ) this.PQ = null; } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasingWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasing.java similarity index 98% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasingWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasing.java index 2813a3b7c..154c8c789 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasingWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasing.java @@ -43,6 +43,8 @@ import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.variantcontext.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriterFactory; import java.io.*; import java.util.*; @@ -89,7 +91,7 @@ import static org.broadinstitute.sting.utils.codecs.vcf.VCFUtils.getVCFHeadersFr // Filter out all reads with zero mapping quality @ReadFilters({MappingQualityZeroFilter.class}) -public class ReadBackedPhasingWalker extends RodWalker { +public class ReadBackedPhasing extends RodWalker { private static final boolean DEBUG = false; /** * The VCF file we are phasing variants from. @@ -100,7 +102,7 @@ public class ReadBackedPhasingWalker extends RodWalker hInfo = new HashSet(); @@ -253,7 +255,7 @@ public class ReadBackedPhasingWalker extends RodWalker gtAttribs = new HashMap(gt.getAttributes()); - gtAttribs.put(PQ_KEY, pr.phaseQuality); - Genotype phasedGt = new Genotype(gt.getSampleName(), allelePair.getAllelesAsList(), gt.getLog10PError(), gt.getFilters(), gtAttribs, genotypesArePhased); + Genotype phasedGt = new GenotypeBuilder(gt) + .alleles(allelePair.getAllelesAsList()) + .attribute(PQ_KEY, pr.phaseQuality) + .phased(genotypesArePhased).make(); uvc.setGenotype(samp, phasedGt); } @@ -426,9 +426,9 @@ public class ReadBackedPhasingWalker extends RodWalker handledGtAttribs = new HashMap(handledGt.getAttributes()); - handledGtAttribs.put(PQ_KEY, pr.phaseQuality); - Genotype phasedHomGt = new Genotype(handledGt.getSampleName(), handledGt.getAlleles(), handledGt.getLog10PError(), handledGt.getFilters(), handledGtAttribs, genotypesArePhased); + Genotype phasedHomGt = new GenotypeBuilder(handledGt) + .attribute(PQ_KEY, pr.phaseQuality) + .phased(genotypesArePhased).make(); interiorUvc.setGenotype(samp, phasedHomGt); } } @@ -1104,10 +1104,7 @@ public class ReadBackedPhasingWalker extends RodWalker(); if (alignment != null) { - ReadBackedPileup pileup = null; - if (alignment.hasBasePileup()) { - pileup = alignment.getBasePileup(); - } + ReadBackedPileup pileup = alignment.getBasePileup(); if (pileup != null) { // filter the read-base pileup based on min base and mapping qualities: pileup = pileup.getBaseAndMappingFilteredPileup(MIN_BASE_QUALITY_SCORE, MIN_MAPPING_QUALITY_SCORE); @@ -1437,7 +1434,7 @@ public class ReadBackedPhasingWalker extends RodWalker { +public class CountBases extends ReadWalker { public Integer map(ReferenceContext ref, GATKSAMRecord read, ReadMetaDataTracker tracker) { return read.getReadLength(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountLociWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountLoci.java similarity index 94% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountLociWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountLoci.java index 09113704a..11cf0fe39 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountLociWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountLoci.java @@ -37,7 +37,7 @@ import java.io.PrintStream; * * */ -public class CountLociWalker extends LocusWalker implements TreeReducible { +public class CountLoci extends LocusWalker implements TreeReducible { @Output(doc="Write count to this file instead of STDOUT") PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountMalesWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountMales.java similarity index 95% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountMalesWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountMales.java index dbbd8e761..0856fcda0 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountMalesWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountMales.java @@ -39,7 +39,7 @@ import org.broadinstitute.sting.utils.sam.GATKSAMRecord; * --read-filter command line argument). Simplest example of a read-backed analysis. */ @Requires({DataSource.READS, DataSource.REFERENCE}) -public class CountMalesWalker extends ReadWalker { +public class CountMales extends ReadWalker { public Integer map(ReferenceContext ref, GATKSAMRecord read, ReadMetaDataTracker tracker) { Sample sample = getSampleDB().getSample(read); return sample.getGender() == Gender.MALE ? 1 : 0; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODs.java similarity index 97% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODs.java index edbd5ff75..67ecea1f0 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODs.java @@ -70,7 +70,7 @@ import java.util.*; * * */ -public class CountRODsWalker extends RodWalker, Long>> implements TreeReducible, Long>> { +public class CountRODs extends RodWalker, Long>> implements TreeReducible, Long>> { @Output public PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsByRefWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsByRef.java similarity index 90% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsByRefWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsByRef.java index 7c7d6417a..f71362c40 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsByRefWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsByRef.java @@ -63,7 +63,7 @@ import java.util.List; * * */ -public class CountRODsByRefWalker extends RefWalker, Long>> { +public class CountRODsByRef extends RefWalker, Long>> { /** * One or more input rod files @@ -77,14 +77,14 @@ public class CountRODsByRefWalker extends RefWalker, Long> reduce(CountRODsWalker.Datum point, Pair, Long> sum) { + public Pair, Long> reduce(CountRODs.Datum point, Pair, Long> sum) { return crw.reduce(point, sum); } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadEventsWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadEvents.java similarity index 95% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadEventsWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadEvents.java index c5ab0426d..d0c917650 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadEventsWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadEvents.java @@ -42,7 +42,7 @@ import java.util.Map; @Requires({DataSource.READS, DataSource.REFERENCE}) -public class CountReadEventsWalker extends ReadWalker> , Map>> { +public class CountReadEvents extends ReadWalker> , Map>> { @Output (doc = "GATKReport table output") PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadsWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReads.java similarity index 95% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadsWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReads.java index b5a2d183f..c9108054e 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadsWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReads.java @@ -37,7 +37,7 @@ import org.broadinstitute.sting.utils.sam.GATKSAMRecord; * */ @Requires({DataSource.READS, DataSource.REFERENCE}) -public class CountReadsWalker extends ReadWalker { +public class CountReads extends ReadWalker { public Integer map(ReferenceContext ref, GATKSAMRecord read, ReadMetaDataTracker tracker) { return 1; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountTerminusEventWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountTerminusEvent.java similarity index 96% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountTerminusEventWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountTerminusEvent.java index 9208cbae8..1fff50800 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountTerminusEventWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountTerminusEvent.java @@ -37,7 +37,7 @@ import java.util.List; * */ @Requires({DataSource.READS, DataSource.REFERENCE}) -public class CountTerminusEventWalker extends ReadWalker, Pair> { +public class CountTerminusEvent extends ReadWalker, Pair> { public Pair map(ReferenceContext ref, GATKSAMRecord read, ReadMetaDataTracker tracker) { List cigarElements = read.getCigar().getCigarElements(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CycleQualityWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CycleQuality.java similarity index 99% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CycleQualityWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CycleQuality.java index 1cb1579d0..86d8458de 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CycleQualityWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CycleQuality.java @@ -56,7 +56,7 @@ import java.util.*; * --read-filter command line argument). Simplest example of a read-backed analysis. */ @Requires({DataSource.READS}) -public class CycleQualityWalker extends ReadWalker { +public class CycleQuality extends ReadWalker { @Output protected PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/DocumentationTest.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/DocumentationTest.java index 5b60a9db5..5e3f5b038 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/DocumentationTest.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/DocumentationTest.java @@ -32,7 +32,7 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.RodWalker; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.*; @@ -73,7 +73,7 @@ public class DocumentationTest extends RodWalker { private RodBinding featureArg = null; @Output(doc="VCFWriter",required=true) - protected VCFWriter vcfWriter = null; + protected VariantContextWriter vcfWriter = null; @Advanced @Argument(fullName="setString", shortName="sn", doc="Sample name to be included in the analysis. Can be specified multiple times.", required=false) diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ErrorThrowingWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ErrorThrowing.java similarity index 96% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ErrorThrowingWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ErrorThrowing.java index 6f0490fd3..500f27980 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ErrorThrowingWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ErrorThrowing.java @@ -36,7 +36,7 @@ import org.broadinstitute.sting.utils.exceptions.UserException; /** * a walker that simply throws errors. Allows us to test that the engine is behaving as expected with error handling */ -public class ErrorThrowingWalker extends RodWalker implements TreeReducible { +public class ErrorThrowing extends RodWalker implements TreeReducible { @Input(fullName="exception", shortName = "E", doc="Java class of exception to throw", required=true) public String exceptionToThrow; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/QCRefWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/QCRef.java similarity index 90% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/QCRefWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/QCRef.java index ab5324e39..814f1c8c2 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/QCRefWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/QCRef.java @@ -26,24 +26,15 @@ package org.broadinstitute.sting.gatk.walkers.qc; import net.sf.picard.reference.IndexedFastaSequenceFile; import net.sf.picard.reference.ReferenceSequence; -import net.sf.samtools.SAMSequenceRecord; -import org.broad.tribble.Feature; -import org.broadinstitute.sting.commandline.Argument; -import org.broadinstitute.sting.commandline.Input; import org.broadinstitute.sting.commandline.Output; -import org.broadinstitute.sting.commandline.RodBinding; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.RefWalker; import org.broadinstitute.sting.utils.BaseUtils; -import org.broadinstitute.sting.utils.collections.ExpandingArrayList; -import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.StingException; import java.io.PrintStream; -import java.util.Collections; -import java.util.List; /** * Prints out counts of the number of reference ordered data objects encountered. @@ -67,7 +58,7 @@ import java.util.List; * * */ -public class QCRefWalker extends RefWalker { +public class QCRef extends RefWalker { @Output public PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadClippingStatsWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadClippingStats.java similarity index 98% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadClippingStatsWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadClippingStats.java index 27f9d7b6d..92030a7d9 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadClippingStatsWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadClippingStats.java @@ -52,7 +52,7 @@ import java.util.Arrays; * of the clipping to the output stream. */ @Requires({DataSource.READS}) -public class ReadClippingStatsWalker extends ReadWalker { +public class ReadClippingStats extends ReadWalker { @Output protected PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadValidationWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadValidation.java similarity index 98% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadValidationWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadValidation.java index 4425f92c4..5f062c861 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadValidationWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadValidation.java @@ -44,7 +44,7 @@ import java.util.List; * the same read is not passed to the walker multiple consecutive times. * @author aaron */ -public class ReadValidationWalker extends ReadWalker { +public class ReadValidation extends ReadWalker { // our MD5 sum private MessageDigest m; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/RodSystemValidationWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/RodSystemValidation.java similarity index 97% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/RodSystemValidationWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/RodSystemValidation.java index 1c24f3879..3a9add950 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/RodSystemValidationWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/RodSystemValidation.java @@ -32,7 +32,6 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.datasources.rmd.ReferenceOrderedDataSource; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.refdata.utils.GATKFeature; import org.broadinstitute.sting.gatk.refdata.utils.RODRecordList; import org.broadinstitute.sting.gatk.walkers.Reference; import org.broadinstitute.sting.gatk.walkers.RodWalker; @@ -51,7 +50,7 @@ import java.util.List; * a walker for validating (in the style of validating pile-up) the ROD system. */ @Reference(window=@Window(start=-40,stop=40)) -public class RodSystemValidationWalker extends RodWalker { +public class RodSystemValidation extends RodWalker { // the divider to use in some of the text output private static final String DIVIDER = ","; @@ -87,7 +86,7 @@ public class RodSystemValidationWalker extends RodWalker { rodList = this.getToolkit().getRodDataSources(); for (ReferenceOrderedDataSource rod : rodList) { out.println(rod.getName() + DIVIDER + rod.getType()); - out.println(rod.getName() + DIVIDER + rod.getFile()); + out.println(rod.getName() + DIVIDER + rod.getFile().getName()); out.println(rod.getName() + DIVIDER + md5sum(rod.getFile())); } out.println("Data:"); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileupWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileup.java similarity index 94% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileupWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileup.java index cd17e4592..f249df475 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileupWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileup.java @@ -32,9 +32,12 @@ import org.broadinstitute.sting.commandline.RodBinding; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.utils.codecs.sampileup.SAMPileupFeature; -import org.broadinstitute.sting.gatk.walkers.*; +import org.broadinstitute.sting.gatk.walkers.DataSource; +import org.broadinstitute.sting.gatk.walkers.LocusWalker; +import org.broadinstitute.sting.gatk.walkers.Requires; +import org.broadinstitute.sting.gatk.walkers.TreeReducible; import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.codecs.sampileup.SAMPileupFeature; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; @@ -48,7 +51,7 @@ import java.util.Arrays; * should be specified using the command-line argument '-B pileup,SAMPileup,'. */ @Requires(value={DataSource.READS,DataSource.REFERENCE}) -public class ValidatingPileupWalker extends LocusWalker implements TreeReducible { +public class ValidatingPileup extends LocusWalker implements TreeReducible { @Input(fullName = "pileup", doc="The SAMPileup containing the expected output", required = true) RodBinding pileup; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/ContextCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/ContextCovariate.java deleted file mode 100644 index e1a7772db..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/ContextCovariate.java +++ /dev/null @@ -1,70 +0,0 @@ -/* - * Copyright (c) 2011 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -import java.util.Arrays; - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: 9/26/11 - */ - -public class ContextCovariate implements ExperimentalCovariate { - - private int CONTEXT_SIZE; - private String allN = ""; - - // Initialize any member variables using the command-line arguments passed to the walkers - @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - CONTEXT_SIZE = RAC.CONTEXT_SIZE; - - if (CONTEXT_SIZE <= 0) - throw new UserException("Context Size must be positive, if you don't want to use the context covariate, just turn it off instead"); - - // initialize allN given the size of the context - for (int i = 0; i < CONTEXT_SIZE; i++) - allN += "N"; - } - - @Override - public void getValues(final GATKSAMRecord read, final Comparable[] comparable) { - byte[] bases = read.getReadBases(); - for (int i = 0; i < read.getReadLength(); i++) - comparable[i] = (i < CONTEXT_SIZE) ? allN : new String(Arrays.copyOfRange(bases, i - CONTEXT_SIZE, i)); - } - - // Used to get the covariate's value from input csv file in TableRecalibrationWalker - @Override - public final Comparable getValue(final String str) { - return str; - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/CountCovariatesGatherer.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/CountCovariatesGatherer.java deleted file mode 100755 index 9b0824ed0..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/CountCovariatesGatherer.java +++ /dev/null @@ -1,128 +0,0 @@ -/* - * Copyright (c) 2011 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.commandline.Gatherer; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.text.XReadLines; - -import java.io.File; -import java.io.FileNotFoundException; -import java.io.PrintStream; -import java.util.HashMap; -import java.util.List; -import java.util.regex.Pattern; - -/** - * User: carneiro - * Date: 3/29/11 - */ - - -public class CountCovariatesGatherer extends Gatherer { - - ///////////////////////////// - // Private Member Variables - ///////////////////////////// - private static final Pattern COMMENT_PATTERN = Pattern.compile("^#.*"); - private static final Pattern COVARIATE_PATTERN = Pattern.compile("^ReadGroup,QualityScore,.*"); - private static final String EOF_MARKER = "EOF"; - - private HashMap dataMap; - - - private void addCSVData (String line) { - String[] covariates = line.split(","); - String key = ""; - RecalDatumOptimized values; - - for (int i = 0; i < covariates.length-3; i++) { - key += covariates[i] + ","; - } - - values = new RecalDatumOptimized(Integer.parseInt(covariates[covariates.length-3]), - Integer.parseInt(covariates[covariates.length-2])); - - if (dataMap.get(key) != null) { - RecalDatumOptimized currentValues = dataMap.get(key); - values.increment(currentValues); - } - - dataMap.put(key, values); - } - - @Override - public void gather(List inputs, File output) { - dataMap = new HashMap(); - PrintStream o; - try { - o = new PrintStream(output); - } catch ( FileNotFoundException e) { - throw new UserException("File to be output by CountCovariates Gather function was not found"); - } - - boolean sawEOF = false; - boolean printedHeader = false; - - // Read input files - for ( File RECAL_FILE : inputs) { - try { - for ( String line : new XReadLines(RECAL_FILE) ) { - if ( EOF_MARKER.equals(line) ) { - sawEOF = true; // sanity check - } - else if(COMMENT_PATTERN.matcher(line).matches()) { - ; // It doesn't make any sense to print intermediate comments, unless we merge them somehow (would require strict definition for the header) - } - else if (COVARIATE_PATTERN.matcher(line).matches()) { - if (!printedHeader) - o.println(line); - } - else { // Found a line of data - addCSVData(line); // Parse the line and add the data to the HashMap - } - } - - } catch ( FileNotFoundException e ) { - throw new UserException.CouldNotReadInputFile(RECAL_FILE, "Can not find input file", e); - } - - if ( !sawEOF ) { - final String errorMessage = "No EOF marker was present in the recal covariates table; this could mean that the file is corrupted!"; - throw new UserException.MalformedFile(RECAL_FILE, errorMessage); - } - printedHeader = true; - } - - // Write output file from dataMap - for(String key : dataMap.keySet()) { - RecalDatumOptimized values = dataMap.get(key); - String v = values.getNumObservations() + "," + values.getNumMismatches() + "," + values.empiricalQualByte(); - o.println(key + v); - } - o.println("EOF"); - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/CountCovariatesWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/CountCovariatesWalker.java deleted file mode 100755 index a99f35f45..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/CountCovariatesWalker.java +++ /dev/null @@ -1,624 +0,0 @@ -/* - * Copyright (c) 2010 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broad.tribble.Feature; -import org.broadinstitute.sting.commandline.*; -import org.broadinstitute.sting.gatk.contexts.AlignmentContext; -import org.broadinstitute.sting.gatk.contexts.ReferenceContext; -import org.broadinstitute.sting.gatk.filters.MappingQualityUnavailableFilter; -import org.broadinstitute.sting.gatk.filters.MappingQualityZeroFilter; -import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.*; -import org.broadinstitute.sting.utils.BaseUtils; -import org.broadinstitute.sting.utils.Utils; -import org.broadinstitute.sting.utils.baq.BAQ; -import org.broadinstitute.sting.utils.classloader.PluginManager; -import org.broadinstitute.sting.utils.collections.NestedHashMap; -import org.broadinstitute.sting.utils.exceptions.DynamicClassResolutionException; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.pileup.PileupElement; -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -import java.io.PrintStream; -import java.util.ArrayList; -import java.util.Collections; -import java.util.List; -import java.util.Map; - -/** - * First pass of the base quality score recalibration -- Generates recalibration table based on various user-specified covariates (such as reported quality score, cycle, and dinucleotide). - * - *

- * This walker is designed to work as the first pass in a two-pass processing step. It does a by-locus traversal operating - * only at sites that are not in dbSNP. We assume that all reference mismatches we see are therefore errors and indicative - * of poor base quality. This walker generates tables based on various user-specified covariates (such as read group, - * reported quality score, cycle, and dinucleotide). Since there is a large amount of data one can then calculate an empirical - * probability of error given the particular covariates seen at this site, where p(error) = num mismatches / num observations. - * The output file is a CSV list of (the several covariate values, num observations, num mismatches, empirical quality score). - *

- * Note: ReadGroupCovariate and QualityScoreCovariate are required covariates and will be added for the user regardless of whether or not they were specified. - * - *

- * See the GATK wiki for a tutorial and example recalibration accuracy plots. - * http://www.broadinstitute.org/gsa/wiki/index.php/Base_quality_score_recalibration - * - *

Input

- *

- * The input read data whose base quality scores need to be assessed. - *

- * A database of known polymorphic sites to skip over. - *

- * - *

Output

- *

- * A recalibration table file in CSV format that is used by the TableRecalibration walker. - * It is a comma-separated text file relating the desired covariates to the number of such bases and their rate of mismatch in the genome, and its implied empirical quality score. - * - * The first 20 lines of such a file is shown below. - * * The file begins with a series of comment lines describing: - * ** The number of counted loci - * ** The number of counted bases - * ** The number of skipped loci and the fraction skipped, due to presence in dbSNP or bad reference bases - * - * * After the comments appears a header line indicating which covariates were used as well as the ordering of elements in the subsequent records. - * - * * After the header, data records occur one per line until the end of the file. The first several items on a line are the values of the individual covariates and will change - * depending on which covariates were specified at runtime. The last three items are the data- that is, number of observations for this combination of covariates, number of - * reference mismatches, and the raw empirical quality score calculated by phred-scaling the mismatch rate. - * - *

- * # Counted Sites    19451059
- * # Counted Bases    56582018
- * # Skipped Sites    82666
- * # Fraction Skipped 1 / 235 bp
- * ReadGroup,QualityScore,Cycle,Dinuc,nObservations,nMismatches,Qempirical
- * SRR006446,11,65,CA,9,1,10
- * SRR006446,11,48,TA,10,0,40
- * SRR006446,11,67,AA,27,0,40
- * SRR006446,11,61,GA,11,1,10
- * SRR006446,12,34,CA,47,1,17
- * SRR006446,12,30,GA,52,1,17
- * SRR006446,12,36,AA,352,1,25
- * SRR006446,12,17,TA,182,11,12
- * SRR006446,11,48,TG,2,0,40
- * SRR006446,11,67,AG,1,0,40
- * SRR006446,12,34,CG,9,0,40
- * SRR006446,12,30,GG,43,0,40
- * ERR001876,4,31,AG,1,0,40
- * ERR001876,4,31,AT,2,2,1
- * ERR001876,4,31,CA,1,0,40
- * 
- *

- * - *

Examples

- *
- * java -Xmx4g -jar GenomeAnalysisTK.jar \
- *   -R resources/Homo_sapiens_assembly18.fasta \
- *   -knownSites bundle/hg18/dbsnp_132.hg18.vcf \
- *   -knownSites another/optional/setOfSitesToMask.vcf \
- *   -I my_reads.bam \
- *   -T CountCovariates \
- *   -cov ReadGroupCovariate \
- *   -cov QualityScoreCovariate \
- *   -cov CycleCovariate \
- *   -cov DinucCovariate \
- *   -recalFile my_reads.recal_data.csv
- * 
- */ - -@BAQMode(ApplicationTime = BAQ.ApplicationTime.FORBIDDEN) -@By(DataSource.READS) // Only look at covered loci, not every loci of the reference file -@ReadFilters({MappingQualityZeroFilter.class, MappingQualityUnavailableFilter.class}) -// Filter out all reads with zero or unavailable mapping quality -@Requires({DataSource.READS, DataSource.REFERENCE, DataSource.REFERENCE_BASES}) -// This walker requires both -I input.bam and -R reference.fasta -@PartitionBy(PartitionType.LOCUS) -public class CountCovariatesWalker extends LocusWalker implements TreeReducible { - - ///////////////////////////// - // Constants - ///////////////////////////// - private static final String SKIP_RECORD_ATTRIBUTE = "SKIP"; //used to label GATKSAMRecords that should be skipped. - private static final String SEEN_ATTRIBUTE = "SEEN"; //used to label GATKSAMRecords as processed. - private static final String COVARS_ATTRIBUTE = "COVARS"; //used to store covariates array as a temporary attribute inside GATKSAMRecord. - - ///////////////////////////// - // Shared Arguments - ///////////////////////////// - @ArgumentCollection - private RecalibrationArgumentCollection RAC = new RecalibrationArgumentCollection(); - - ///////////////////////////// - // Command Line Arguments - ///////////////////////////// - /** - * This algorithm treats every reference mismatch as an indication of error. However, real genetic variation is expected to mismatch the reference, - * so it is critical that a database of known polymorphic sites is given to the tool in order to skip over those sites. This tool accepts any number of RodBindings (VCF, Bed, etc.) - * for use as this database. For users wishing to exclude an interval list of known variation simply use -XL my.interval.list to skip over processing those sites. - * Please note however that the statistics reported by the tool will not accurately reflected those sites skipped by the -XL argument. - */ - @Input(fullName = "knownSites", shortName = "knownSites", doc = "A database of known polymorphic sites to skip over in the recalibration algorithm", required = false) - public List> knownSites = Collections.emptyList(); - - /** - * After the header, data records occur one per line until the end of the file. The first several items on a line are the - * values of the individual covariates and will change depending on which covariates were specified at runtime. The last - * three items are the data- that is, number of observations for this combination of covariates, number of reference mismatches, - * and the raw empirical quality score calculated by phred-scaling the mismatch rate. - */ - @Output(fullName = "recal_file", shortName = "recalFile", required = true, doc = "Filename for the output covariates table recalibration file") - @Gather(CountCovariatesGatherer.class) - public PrintStream RECAL_FILE; - - @Argument(fullName = "list", shortName = "ls", doc = "List the available covariates and exit", required = false) - private boolean LIST_ONLY = false; - - /** - * See the -list argument to view available covariates. - */ - @Argument(fullName = "covariate", shortName = "cov", doc = "Covariates to be used in the recalibration. Each covariate is given as a separate cov parameter. ReadGroup and ReportedQuality are required covariates and are already added for you.", required = false) - private String[] COVARIATES = null; - @Argument(fullName = "standard_covs", shortName = "standard", doc = "Use the standard set of covariates in addition to the ones listed using the -cov argument", required = false) - private boolean USE_STANDARD_COVARIATES = false; - - ///////////////////////////// - // Debugging-only Arguments - ///////////////////////////// - @Argument(fullName = "dont_sort_output", shortName = "unsorted", required = false, doc = "If specified, the output table recalibration csv file will be in an unsorted, arbitrary order to save some run time.") - private boolean DONT_SORT_OUTPUT = false; - - /** - * This calculation is critically dependent on being able to skip over known polymorphic sites. Please be sure that you know what you are doing if you use this option. - */ - @Argument(fullName = "run_without_dbsnp_potentially_ruining_quality", shortName = "run_without_dbsnp_potentially_ruining_quality", required = false, doc = "If specified, allows the recalibrator to be used without a dbsnp rod. Very unsafe and for expert users only.") - private boolean RUN_WITHOUT_DBSNP = false; - - ///////////////////////////// - // Private Member Variables - ///////////////////////////// - private final RecalDataManager dataManager = new RecalDataManager(); // Holds the data HashMap, mostly used by TableRecalibrationWalker to create collapsed data hashmaps - private final ArrayList requestedCovariates = new ArrayList(); // A list to hold the covariate objects that were requested - private static final double DBSNP_VS_NOVEL_MISMATCH_RATE = 2.0; // rate at which dbSNP sites (on an individual level) mismatch relative to novel sites (determined by looking at NA12878) - private static int DBSNP_VALIDATION_CHECK_FREQUENCY = 1000000; // how often to validate dbsnp mismatch rate (in terms of loci seen) - - public static class CountedData { - private long countedSites = 0; // Number of loci used in the calculations, used for reporting in the output file - private long countedBases = 0; // Number of bases used in the calculations, used for reporting in the output file - private long skippedSites = 0; // Number of loci skipped because it was a dbSNP site, used for reporting in the output file - private long solidInsertedReferenceBases = 0; // Number of bases where we believe SOLID has inserted the reference because the color space is inconsistent with the read base - private long otherColorSpaceInconsistency = 0; // Number of bases where the color space is inconsistent with the read but the reference wasn't inserted. - - private long dbSNPCountsMM = 0, dbSNPCountsBases = 0; // mismatch/base counts for dbSNP loci - private long novelCountsMM = 0, novelCountsBases = 0; // mismatch/base counts for non-dbSNP loci - private int lociSinceLastDbsnpCheck = 0; // loci since last dbsnp validation - - /** - * Adds the values of other to this, returning this - * - * @param other - * @return this object - */ - public CountedData add(CountedData other) { - countedSites += other.countedSites; - countedBases += other.countedBases; - skippedSites += other.skippedSites; - solidInsertedReferenceBases += other.solidInsertedReferenceBases; - otherColorSpaceInconsistency += other.otherColorSpaceInconsistency; - dbSNPCountsMM += other.dbSNPCountsMM; - dbSNPCountsBases += other.dbSNPCountsBases; - novelCountsMM += other.novelCountsMM; - novelCountsBases += other.novelCountsBases; - lociSinceLastDbsnpCheck += other.lociSinceLastDbsnpCheck; - return this; - } - } - - //--------------------------------------------------------------------------------------------------------------- - // - // initialize - // - //--------------------------------------------------------------------------------------------------------------- - - /** - * Parse the -cov arguments and create a list of covariates to be used here - * Based on the covariates' estimates for initial capacity allocate the data hashmap - */ - public void initialize() { - - if (RAC.FORCE_PLATFORM != null) { - RAC.DEFAULT_PLATFORM = RAC.FORCE_PLATFORM; - } - - // Get a list of all available covariates - final List> covariateClasses = new PluginManager(Covariate.class).getPlugins(); - final List> requiredClasses = new PluginManager(RequiredCovariate.class).getPlugins(); - final List> standardClasses = new PluginManager(StandardCovariate.class).getPlugins(); - - // Print and exit if that's what was requested - if (LIST_ONLY) { - logger.info("Available covariates:"); - for (Class covClass : covariateClasses) { - logger.info(covClass.getSimpleName()); - } - logger.info(""); - - System.exit(0); // Early exit here because user requested it - } - - // Warn the user if no dbSNP file or other variant mask was specified - if (knownSites.isEmpty() && !RUN_WITHOUT_DBSNP) { - throw new UserException.CommandLineException("This calculation is critically dependent on being able to skip over known variant sites. Please provide a VCF file containing known sites of genetic variation."); - } - - // Initialize the requested covariates by parsing the -cov argument - // First add the required covariates - if (requiredClasses.size() == 2) { // readGroup and reported quality score - requestedCovariates.add(new ReadGroupCovariate()); // Order is important here - requestedCovariates.add(new QualityScoreCovariate()); - } - else { - throw new UserException.CommandLineException("There are more required covariates than expected. The instantiation list needs to be updated with the new required covariate and in the correct order."); - } - // Next add the standard covariates if -standard was specified by the user - if (USE_STANDARD_COVARIATES) { - // We want the standard covariates to appear in a consistent order but the packageUtils method gives a random order - // A list of Classes can't be sorted, but a list of Class names can be - final List standardClassNames = new ArrayList(); - for (Class covClass : standardClasses) { - standardClassNames.add(covClass.getName()); - } - Collections.sort(standardClassNames); // Sort the list of class names - for (String className : standardClassNames) { - for (Class covClass : standardClasses) { // Find the class that matches this class name - if (covClass.getName().equals(className)) { - try { - final Covariate covariate = (Covariate) covClass.newInstance(); - requestedCovariates.add(covariate); - } catch (Exception e) { - throw new DynamicClassResolutionException(covClass, e); - } - } - } - } - } - // Finally parse the -cov arguments that were provided, skipping over the ones already specified - if (COVARIATES != null) { - for (String requestedCovariateString : COVARIATES) { - boolean foundClass = false; - for (Class covClass : covariateClasses) { - if (requestedCovariateString.equalsIgnoreCase(covClass.getSimpleName())) { // -cov argument matches the class name for an implementing class - foundClass = true; - if (!requiredClasses.contains(covClass) && (!USE_STANDARD_COVARIATES || !standardClasses.contains(covClass))) { - try { - // Now that we've found a matching class, try to instantiate it - final Covariate covariate = (Covariate) covClass.newInstance(); - requestedCovariates.add(covariate); - } catch (Exception e) { - throw new DynamicClassResolutionException(covClass, e); - } - } - } - } - - if (!foundClass) { - throw new UserException.CommandLineException("The requested covariate type (" + requestedCovariateString + ") isn't a valid covariate option. Use --list to see possible covariates."); - } - } - } - - logger.info("The covariates being used here: "); - for (Covariate cov : requestedCovariates) { - logger.info("\t" + cov.getClass().getSimpleName()); - cov.initialize(RAC); // Initialize any covariate member variables using the shared argument collection - } - } - - //--------------------------------------------------------------------------------------------------------------- - // - // map - // - //--------------------------------------------------------------------------------------------------------------- - - /** - * For each read at this locus get the various covariate values and increment that location in the map based on - * whether or not the base matches the reference at this particular location - * - * @param tracker The reference metadata tracker - * @param ref The reference context - * @param context The alignment context - * @return Returns 1, but this value isn't used in the reduce step - */ - public CountedData map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { - // Only use data from non-dbsnp sites - // Assume every mismatch at a non-dbsnp site is indicative of poor quality - CountedData counter = new CountedData(); - if (tracker.getValues(knownSites).size() == 0) { // If something here is in one of the knownSites tracks then skip over it, otherwise proceed - // For each read at this locus - for (final PileupElement p : context.getBasePileup()) { - final GATKSAMRecord gatkRead = p.getRead(); - int offset = p.getOffset(); - - if (gatkRead.containsTemporaryAttribute(SKIP_RECORD_ATTRIBUTE)) { - continue; - } - - if (!gatkRead.containsTemporaryAttribute(SEEN_ATTRIBUTE)) { - gatkRead.setTemporaryAttribute(SEEN_ATTRIBUTE, true); - RecalDataManager.parseSAMRecord(gatkRead, RAC); - - // Skip over reads with no calls in the color space if the user requested it - if (!(RAC.SOLID_NOCALL_STRATEGY == RecalDataManager.SOLID_NOCALL_STRATEGY.THROW_EXCEPTION) && RecalDataManager.checkNoCallColorSpace(gatkRead)) { - gatkRead.setTemporaryAttribute(SKIP_RECORD_ATTRIBUTE, true); - continue; - } - - RecalDataManager.parseColorSpace(gatkRead); - gatkRead.setTemporaryAttribute(COVARS_ATTRIBUTE, RecalDataManager.computeCovariates(gatkRead, requestedCovariates)); - } - - // Skip this position if base quality is zero - if (gatkRead.getBaseQualities()[offset] > 0) { - - byte[] bases = gatkRead.getReadBases(); - byte refBase = ref.getBase(); - - // Skip if this base is an 'N' or etc. - if (BaseUtils.isRegularBase(bases[offset])) { - - // SOLID bams have inserted the reference base into the read if the color space in inconsistent with the read base so skip it - if (!gatkRead.getReadGroup().getPlatform().toUpperCase().contains("SOLID") || RAC.SOLID_RECAL_MODE == RecalDataManager.SOLID_RECAL_MODE.DO_NOTHING || - !RecalDataManager.isInconsistentColorSpace(gatkRead, offset)) { - - // This base finally passed all the checks for a good base, so add it to the big data hashmap - updateDataFromRead(counter, gatkRead, offset, refBase); - - } - else { // calculate SOLID reference insertion rate - if (refBase == bases[offset]) { - counter.solidInsertedReferenceBases++; - } - else { - counter.otherColorSpaceInconsistency++; - } - } - } - } - } - counter.countedSites++; - } - else { // We skipped over the dbSNP site, and we are only processing every Nth locus - counter.skippedSites++; - updateMismatchCounts(counter, context, ref.getBase()); // For sanity check to ensure novel mismatch rate vs dnsnp mismatch rate is reasonable - } - - return counter; - } - - /** - * Update the mismatch / total_base counts for a given class of loci. - * - * @param counter The CountedData to be updated - * @param context The AlignmentContext which holds the reads covered by this locus - * @param refBase The reference base - */ - private static void updateMismatchCounts(CountedData counter, final AlignmentContext context, final byte refBase) { - for (PileupElement p : context.getBasePileup()) { - final byte readBase = p.getBase(); - final int readBaseIndex = BaseUtils.simpleBaseToBaseIndex(readBase); - final int refBaseIndex = BaseUtils.simpleBaseToBaseIndex(refBase); - - if (readBaseIndex != -1 && refBaseIndex != -1) { - if (readBaseIndex != refBaseIndex) { - counter.novelCountsMM++; - } - counter.novelCountsBases++; - } - } - } - - /** - * Major workhorse routine for this walker. - * Loop through the list of requested covariates and pick out the value from the read, offset, and reference - * Using the list of covariate values as a key, pick out the RecalDatum and increment, - * adding one to the number of observations and potentially one to the number of mismatches - * Lots of things are passed as parameters to this method as a strategy for optimizing the covariate.getValue calls - * because pulling things out of the SAMRecord is an expensive operation. - * - * @param counter Data structure which holds the counted bases - * @param gatkRead The SAMRecord holding all the data for this read - * @param offset The offset in the read for this locus - * @param refBase The reference base at this locus - */ - private void updateDataFromRead(CountedData counter, final GATKSAMRecord gatkRead, final int offset, final byte refBase) { - final Object[][] covars = (Comparable[][]) gatkRead.getTemporaryAttribute(COVARS_ATTRIBUTE); - final Object[] key = covars[offset]; - - // Using the list of covariate values as a key, pick out the RecalDatum from the data HashMap - final NestedHashMap data = dataManager.data; //optimization - create local reference - RecalDatumOptimized datum = (RecalDatumOptimized) data.get(key); - if (datum == null) { // key doesn't exist yet in the map so make a new bucket and add it - // initialized with zeros, will be incremented at end of method - datum = (RecalDatumOptimized) data.put(new RecalDatumOptimized(), true, (Object[]) key); - } - - // Need the bases to determine whether or not we have a mismatch - final byte base = gatkRead.getReadBases()[offset]; - final long curMismatches = datum.getNumMismatches(); - - // Add one to the number of observations and potentially one to the number of mismatches - datum.incrementBaseCounts(base, refBase); - counter.countedBases++; - counter.novelCountsBases++; - counter.novelCountsMM += datum.getNumMismatches() - curMismatches; // For sanity check to ensure novel mismatch rate vs dnsnp mismatch rate is reasonable - } - - //--------------------------------------------------------------------------------------------------------------- - // - // reduce - // - //--------------------------------------------------------------------------------------------------------------- - - /** - * Initialize the reduce step by creating a PrintStream from the filename specified as an argument to the walker. - * - * @return returns A PrintStream created from the -recalFile filename argument specified to the walker - */ - public CountedData reduceInit() { - return new CountedData(); - } - - /** - * The Reduce method doesn't do anything for this walker. - * - * @param mapped Result of the map. This value is immediately ignored. - * @param sum The summing CountedData used to output the CSV data - * @return returns The sum used to output the CSV data - */ - public CountedData reduce(CountedData mapped, CountedData sum) { - // Do a dbSNP sanity check every so often - return validatingDbsnpMismatchRate(sum.add(mapped)); - } - - /** - * Validate the dbSNP reference mismatch rates. - */ - private CountedData validatingDbsnpMismatchRate(CountedData counter) { - if (++counter.lociSinceLastDbsnpCheck >= DBSNP_VALIDATION_CHECK_FREQUENCY) { - counter.lociSinceLastDbsnpCheck = 0; - - if (counter.novelCountsBases != 0L && counter.dbSNPCountsBases != 0L) { - final double fractionMM_novel = (double) counter.novelCountsMM / (double) counter.novelCountsBases; - final double fractionMM_dbsnp = (double) counter.dbSNPCountsMM / (double) counter.dbSNPCountsBases; - - if (fractionMM_dbsnp < DBSNP_VS_NOVEL_MISMATCH_RATE * fractionMM_novel) { - Utils.warnUser("The variation rate at the supplied list of known variant sites seems suspiciously low. Please double-check that the correct ROD is being used. " + String.format("[dbSNP variation rate = %.4f, novel variation rate = %.4f]", fractionMM_dbsnp, fractionMM_novel)); - DBSNP_VALIDATION_CHECK_FREQUENCY *= 2; // Don't annoyingly output the warning message every megabase of a large file - } - } - } - - return counter; - } - - public CountedData treeReduce(CountedData sum1, CountedData sum2) { - return validatingDbsnpMismatchRate(sum1.add(sum2)); - } - - /** - * Write out the full data hashmap to disk in CSV format - * - * @param sum The CountedData to write out to RECAL_FILE - */ - public void onTraversalDone(CountedData sum) { - logger.info("Writing raw recalibration data..."); - if (sum.countedBases == 0L) { - throw new UserException.BadInput("Could not find any usable data in the input BAM file(s)."); - } - outputToCSV(sum, RECAL_FILE); - logger.info("...done!"); - } - - /** - * For each entry (key-value pair) in the data hashmap output the Covariate's values as well as the RecalDatum's data in CSV format - * - * @param recalTableStream The PrintStream to write out to - */ - private void outputToCSV(CountedData sum, final PrintStream recalTableStream) { - recalTableStream.printf("# Counted Sites %d%n", sum.countedSites); - recalTableStream.printf("# Counted Bases %d%n", sum.countedBases); - recalTableStream.printf("# Skipped Sites %d%n", sum.skippedSites); - recalTableStream.printf("# Fraction Skipped 1 / %.0f bp%n", (double) sum.countedSites / sum.skippedSites); - - if (sum.solidInsertedReferenceBases != 0) { - recalTableStream.printf("# Fraction SOLiD inserted reference 1 / %.0f bases%n", (double) sum.countedBases / sum.solidInsertedReferenceBases); - recalTableStream.printf("# Fraction other color space inconsistencies 1 / %.0f bases%n", (double) sum.countedBases / sum.otherColorSpaceInconsistency); - } - - // Output header saying which covariates were used and in what order - for (Covariate cov : requestedCovariates) { - recalTableStream.print(cov.getClass().getSimpleName().split("Covariate")[0] + ","); - } - recalTableStream.println("nObservations,nMismatches,Qempirical"); - - if (DONT_SORT_OUTPUT) { - printMappings(recalTableStream, 0, new Object[requestedCovariates.size()], dataManager.data.data); - } - else { - printMappingsSorted(recalTableStream, 0, new Object[requestedCovariates.size()], dataManager.data.data); - } - - // print out an EOF marker - recalTableStream.println(TableRecalibrationWalker.EOF_MARKER); - } - - private void printMappingsSorted(final PrintStream recalTableStream, final int curPos, final Object[] key, final Map data) { - final ArrayList keyList = new ArrayList(); - for (Object comp : data.keySet()) { - keyList.add((Comparable) comp); - } - - Collections.sort(keyList); - - for (Comparable comp : keyList) { - key[curPos] = comp; - final Object val = data.get(comp); - if (val instanceof RecalDatumOptimized) { // We are at the end of the nested hash maps - // For each Covariate in the key - for (Object compToPrint : key) { - // Output the Covariate's value - recalTableStream.print(compToPrint + ","); - } - // Output the RecalDatum entry - recalTableStream.println(((RecalDatumOptimized) val).outputToCSV()); - } - else { // Another layer in the nested hash map - printMappingsSorted(recalTableStream, curPos + 1, key, (Map) val); - } - } - } - - private void printMappings(final PrintStream recalTableStream, final int curPos, final Object[] key, final Map data) { - for (Object comp : data.keySet()) { - key[curPos] = comp; - final Object val = data.get(comp); - if (val instanceof RecalDatumOptimized) { // We are at the end of the nested hash maps - // For each Covariate in the key - for (Object compToPrint : key) { - // Output the Covariate's value - recalTableStream.print(compToPrint + ","); - } - // Output the RecalDatum entry - recalTableStream.println(((RecalDatumOptimized) val).outputToCSV()); - } - else { // Another layer in the nested hash map - printMappings(recalTableStream, curPos + 1, key, (Map) val); - } - } - } -} - diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/Covariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/Covariate.java deleted file mode 100755 index 9d5747023..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/Covariate.java +++ /dev/null @@ -1,56 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -/* - * Copyright (c) 2009 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Oct 30, 2009 - * - * The Covariate interface. A Covariate is a feature used in the recalibration that can be picked out of the read. - * In general most error checking and adjustments to the data are done before the call to the covariates getValue methods in order to speed up the code. - * This unfortunately muddies the code, but most of these corrections can be done per read while the covariates get called per base, resulting in a big speed up. - */ - -public interface Covariate { - public void initialize(RecalibrationArgumentCollection RAC); // Initialize any member variables using the command-line arguments passed to the walkers - - public Comparable getValue(String str); // Used to get the covariate's value from input csv file in TableRecalibrationWalker - - public void getValues(GATKSAMRecord read, Comparable[] comparable); - //Takes an array of size (at least) read.getReadLength() and fills it with covariate - //values for each position in the read. This method was created as an optimization over calling getValue( read, offset ) for each offset and allows - //read-specific calculations to be done just once rather than for each offset. -} - -interface RequiredCovariate extends Covariate {} - -interface StandardCovariate extends Covariate {} - -interface ExperimentalCovariate extends Covariate {} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/CycleCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/CycleCovariate.java deleted file mode 100755 index b8d13ca10..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/CycleCovariate.java +++ /dev/null @@ -1,212 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.utils.BaseUtils; -import org.broadinstitute.sting.utils.NGSPlatform; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -import java.util.EnumSet; - -/* - * Copyright (c) 2009 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Oct 30, 2009 - * - * The Cycle covariate. - * For Solexa the cycle is simply the position in the read (counting backwards if it is a negative strand read) - * For 454 the cycle is the TACG flow cycle, that is, each flow grabs all the TACG's in order in a single cycle - * For example, for the read: AAACCCCGAAATTTTTACTG - * the cycle would be 11111111222333333344 - * For SOLiD the cycle is a more complicated mixture of ligation cycle and primer round - */ - -public class CycleCovariate implements StandardCovariate { - private final static EnumSet DISCRETE_CYCLE_PLATFORMS = EnumSet.of(NGSPlatform.ILLUMINA, NGSPlatform.SOLID, NGSPlatform.PACBIO, NGSPlatform.COMPLETE_GENOMICS); - private final static EnumSet FLOW_CYCLE_PLATFORMS = EnumSet.of(NGSPlatform.LS454, NGSPlatform.ION_TORRENT); - - // Initialize any member variables using the command-line arguments passed to the walkers - @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - if (RAC.DEFAULT_PLATFORM != null) { - if (RAC.DEFAULT_PLATFORM.equalsIgnoreCase("SLX") || RAC.DEFAULT_PLATFORM.equalsIgnoreCase("ILLUMINA") || - RAC.DEFAULT_PLATFORM.contains("454") || RAC.DEFAULT_PLATFORM.equalsIgnoreCase("SOLID") || RAC.DEFAULT_PLATFORM.equalsIgnoreCase("ABI_SOLID")) { - // nothing to do - } - else { - throw new UserException.CommandLineException("The requested default platform (" + RAC.DEFAULT_PLATFORM + ") is not a recognized platform. Implemented options are illumina, 454, and solid"); - } - } - } - - // Used to pick out the covariate's value from attributes of the read - @Override - public void getValues(final GATKSAMRecord read, final Comparable[] comparable) { - - //----------------------------- - // Illumina, Solid, PacBio, and Complete Genomics - //----------------------------- - - final NGSPlatform ngsPlatform = read.getNGSPlatform(); - if (DISCRETE_CYCLE_PLATFORMS.contains(ngsPlatform)) { - final int init; - final int increment; - if (!read.getReadNegativeStrandFlag()) { - // Differentiate between first and second of pair. - // The sequencing machine cycle keeps incrementing for the second read in a pair. So it is possible for a read group - // to have an error affecting quality at a particular cycle on the first of pair which carries over to the second of pair. - // Therefore the cycle covariate must differentiate between first and second of pair reads. - // This effect can not be corrected by pulling out the first of pair and second of pair flags into a separate covariate because - // the current sequential model would consider the effects independently instead of jointly. - if (read.getReadPairedFlag() && read.getSecondOfPairFlag()) { - //second of pair, positive strand - init = -1; - increment = -1; - } - else { - //first of pair, positive strand - init = 1; - increment = 1; - } - - } - else { - if (read.getReadPairedFlag() && read.getSecondOfPairFlag()) { - //second of pair, negative strand - init = -read.getReadLength(); - increment = 1; - } - else { - //first of pair, negative strand - init = read.getReadLength(); - increment = -1; - } - } - - int cycle = init; - for (int i = 0; i < read.getReadLength(); i++) { - comparable[i] = cycle; - cycle += increment; - } - } - - //----------------------------- - // 454 and Ion Torrent - //----------------------------- - else if (FLOW_CYCLE_PLATFORMS.contains(ngsPlatform)) { - - final int readLength = read.getReadLength(); - final byte[] bases = read.getReadBases(); - - // Differentiate between first and second of pair. - // The sequencing machine cycle keeps incrementing for the second read in a pair. So it is possible for a read group - // to have an error affecting quality at a particular cycle on the first of pair which carries over to the second of pair. - // Therefore the cycle covariate must differentiate between first and second of pair reads. - // This effect can not be corrected by pulling out the first of pair and second of pair flags into a separate covariate because - // the current sequential model would consider the effects independently instead of jointly. - final boolean multiplyByNegative1 = read.getReadPairedFlag() && read.getSecondOfPairFlag(); - - int cycle = multiplyByNegative1 ? -1 : 1; - - // BUGBUG: Consider looking at degradation of base quality scores in homopolymer runs to detect when the cycle incremented even though the nucleotide didn't change - // For example, AAAAAAA was probably read in two flow cycles but here we count it as one - if (!read.getReadNegativeStrandFlag()) { // Forward direction - int iii = 0; - while (iii < readLength) { - while (iii < readLength && bases[iii] == (byte) 'T') { - comparable[iii] = cycle; - iii++; - } - while (iii < readLength && bases[iii] == (byte) 'A') { - comparable[iii] = cycle; - iii++; - } - while (iii < readLength && bases[iii] == (byte) 'C') { - comparable[iii] = cycle; - iii++; - } - while (iii < readLength && bases[iii] == (byte) 'G') { - comparable[iii] = cycle; - iii++; - } - if (iii < readLength) { - if (multiplyByNegative1) - cycle--; - else - cycle++; - } - if (iii < readLength && !BaseUtils.isRegularBase(bases[iii])) { - comparable[iii] = cycle; - iii++; - } - - } - } - else { // Negative direction - int iii = readLength - 1; - while (iii >= 0) { - while (iii >= 0 && bases[iii] == (byte) 'T') { - comparable[iii] = cycle; - iii--; - } - while (iii >= 0 && bases[iii] == (byte) 'A') { - comparable[iii] = cycle; - iii--; - } - while (iii >= 0 && bases[iii] == (byte) 'C') { - comparable[iii] = cycle; - iii--; - } - while (iii >= 0 && bases[iii] == (byte) 'G') { - comparable[iii] = cycle; - iii--; - } - if (iii >= 0) { - if (multiplyByNegative1) - cycle--; - else - cycle++; - } - if (iii >= 0 && !BaseUtils.isRegularBase(bases[iii])) { - comparable[iii] = cycle; - iii--; - } - } - } - } - else { - throw new UserException("The platform (" + read.getReadGroup().getPlatform() + ") associated with read group " + read.getReadGroup() + " is not a recognized platform. Implemented options are e.g. illumina, 454, and solid"); - } - } - - // Used to get the covariate's value from input csv file in TableRecalibrationWalker - @Override - public final Comparable getValue(final String str) { - return Integer.parseInt(str); - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/Dinuc.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/Dinuc.java deleted file mode 100755 index 9e1c2fe1f..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/Dinuc.java +++ /dev/null @@ -1,71 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -/* - * Copyright (c) 2009 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Nov 16, 2009 - */ -public class Dinuc implements Comparable{ - private byte first; - private byte second; - - public Dinuc() { - first = 0; - second = 0; - } - - public Dinuc(final byte _first, final byte _second) { - first = _first; - second = _second; - } - - public final void setValues(final byte _first, final byte _second) { - first = _first; - second = _second; - } - - public int compareTo(final Dinuc that) { - if( this.first > that.first ) { return 1; } - else if( this.first < that.first ) { return -1; } - else { //this.first equals that.first - if( this.second > that.second ) { return 1; } - else if( this.second < that.second ) { return -1; } - else { return 0; } - } - - } - - public static int hashBytes(final byte byte1, final byte byte2) { - return byte1 << 8 + byte2; - } - - public String toString() { // This method call is how the Dinuc will get written out to the table recalibration file - byte[] byteArray = {first,second}; - return new String(byteArray); - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/DinucCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/DinucCovariate.java deleted file mode 100755 index 9a401d09f..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/DinucCovariate.java +++ /dev/null @@ -1,129 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.utils.BaseUtils; -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -import java.util.HashMap; - -/* - * Copyright (c) 2009 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Nov 3, 2009 - * - * The Dinucleotide covariate. This base and the one that came before it in the read, remembering to swap directions if negative strand read. - * This covariate assumes that the bases have been swapped to their complement base counterpart if this is a negative strand read. - * This assumption is made to speed up the code. - */ - -public class DinucCovariate implements StandardCovariate { - - private static final byte NO_CALL = (byte) 'N'; - private static final Dinuc NO_DINUC = new Dinuc(NO_CALL, NO_CALL); - - private HashMap dinucHashMap; - - // Initialize any member variables using the command-line arguments passed to the walkers - @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - final byte[] BASES = {(byte) 'A', (byte) 'C', (byte) 'G', (byte) 'T'}; - dinucHashMap = new HashMap(); - for (byte byte1 : BASES) { - for (byte byte2 : BASES) { - dinucHashMap.put(Dinuc.hashBytes(byte1, byte2), new Dinuc(byte1, byte2)); // This might seem silly, but Strings are too slow - } - } - // Add the "no dinuc" entry too - dinucHashMap.put(Dinuc.hashBytes(NO_CALL, NO_CALL), NO_DINUC); - } - - /** - * Takes an array of size (at least) read.getReadLength() and fills it with the covariate values for each position in the read. - */ - @Override - public void getValues(final GATKSAMRecord read, final Comparable[] comparable) { - final HashMap dinucHashMapRef = this.dinucHashMap; //optimize access to dinucHashMap - final int readLength = read.getReadLength(); - final boolean negativeStrand = read.getReadNegativeStrandFlag(); - byte[] bases = read.getReadBases(); - byte base; - byte prevBase; - int offset = 0; - // If this is a negative strand read then we need to reverse the direction for our previous base - - if (negativeStrand) { - bases = BaseUtils.simpleReverseComplement(bases); //this is NOT in-place - } - comparable[0] = NO_DINUC; // No dinuc at the beginning of the read - - prevBase = bases[0]; - offset++; - while (offset < readLength) { - // Note: We are using the previous base in the read, not the - // previous base in the reference. This is done in part to be consistent with unmapped reads. - base = bases[offset]; - if (BaseUtils.isRegularBase(prevBase)) { - comparable[offset] = dinucHashMapRef.get(Dinuc.hashBytes(prevBase, base)); - } - else { - comparable[offset] = NO_DINUC; - } - - offset++; - prevBase = base; - } - if (negativeStrand) { - reverse(comparable); - } - } - - // Used to get the covariate's value from input csv file in TableRecalibrationWalker - @Override - public final Comparable getValue(final String str) { - byte[] bytes = str.getBytes(); - final Dinuc returnDinuc = dinucHashMap.get(Dinuc.hashBytes(bytes[0], bytes[1])); - if (returnDinuc.compareTo(NO_DINUC) == 0) { - return null; - } - return returnDinuc; - } - - /** - * Reverses the given array in place. - * - * @param array any array - */ - private static void reverse(final Comparable[] array) { - final int arrayLength = array.length; - for (int l = 0, r = arrayLength - 1; l < r; l++, r--) { - final Comparable temp = array[l]; - array[l] = array[r]; - array[r] = temp; - } - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/GCContentCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/GCContentCovariate.java deleted file mode 100755 index 14ffd35a4..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/GCContentCovariate.java +++ /dev/null @@ -1,96 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import net.sf.samtools.SAMRecord; -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -/* - * Copyright (c) 2010 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Jan 29, 2010 - * - * The number of previous N bases (along the direction of the read) that contain G's and C's. The goal is to correct for dye slippage. - * Only valid for Illumina reads. Otherwise return -1. - */ - -public class GCContentCovariate implements ExperimentalCovariate { - - private int numBack = 7; - - // Initialize any member variables using the command-line arguments passed to the walkers - @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - numBack = RAC.HOMOPOLYMER_NBACK; - } - - // Used to pick out the covariate's value from attributes of the read - private Comparable getValue(final SAMRecord read, final int offset) { - - // ATTGCCCCGTAAAAAAAGAGAA - // 0000123456654321001122 - - if (read.getReadGroup().getPlatform().equalsIgnoreCase("ILLUMINA") || read.getReadGroup().getPlatform().equalsIgnoreCase("SLX")) { - int numGC = 0; - int startPos; - int stopPos; - final byte[] bases = read.getReadBases(); - if (!read.getReadNegativeStrandFlag()) { // Forward direction - startPos = Math.max(offset - numBack, 0); - stopPos = Math.max(offset - 1, 0); - } - else { // Negative direction - startPos = Math.min(offset + 2, bases.length); - stopPos = Math.min(offset + numBack + 1, bases.length); - } - - for (int iii = startPos; iii < stopPos; iii++) { - if (bases[iii] == (byte) 'G' || bases[iii] == (byte) 'C') { - numGC++; - } - } - - return numGC; - } - else { // This effect is specific to the Illumina platform - return -1; - } - } - - @Override - public void getValues(final GATKSAMRecord read, final Comparable[] comparable) { - for (int iii = 0; iii < read.getReadLength(); iii++) { - comparable[iii] = getValue(read, iii); // BUGBUG: this can be optimized - } - } - - // Used to get the covariate's value from input csv file in TableRecalibrationWalker - @Override - public final Comparable getValue(final String str) { - return Integer.parseInt(str); - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/HomopolymerCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/HomopolymerCovariate.java deleted file mode 100755 index 004fb0bdb..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/HomopolymerCovariate.java +++ /dev/null @@ -1,109 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import net.sf.samtools.SAMRecord; -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -/* - * Copyright (c) 2009 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Dec 4, 2009 - * - * The Homopolymer Run Covariate. This is the number of consecutive bases in the previous N that match the current base. - * For example, if N = 10: - * ATTGCCCCGTAAAAAAAAATA - * 001001230001234567800 - */ - -public class HomopolymerCovariate implements ExperimentalCovariate { - - private int numBack; - - // Initialize any member variables using the command-line arguments passed to the walkers - @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - numBack = RAC.HOMOPOLYMER_NBACK; - } - - // Used to pick out the covariate's value from attributes of the read - private Comparable getValue(final SAMRecord read, final int offset) { - - // This block of code is for if you don't want to only count consecutive bases - // ATTGCCCCGTAAAAAAAAATA - // 001001231211234567819 - /* - int numAgree = 0; // The number of bases that agree with you in the previous numBack bases of the read - int startPos = 0; - int stopPos = 0; - byte[] bases = read.getReadBases(); - byte thisBase = bases[offset]; - if( !read.getReadNegativeStrandFlag() ) { // Forward direction - startPos = Math.max(offset - numBack, 0); - stopPos = Math.max(offset - 1, 0); - } else { // Negative direction - startPos = Math.min(offset + 2, bases.length); - stopPos = Math.min(offset + numBack + 1, bases.length); - } - - for( int iii = startPos; iii < stopPos; iii++ ) { - if( bases[iii] == thisBase ) { numAgree++; } - } - */ - - int numAgree = 0; // The number of consecutive bases that agree with you in the previous numBack bases of the read - final byte[] bases = read.getReadBases(); - int iii = offset; - if (!read.getReadNegativeStrandFlag()) { // Forward direction - while (iii <= bases.length - 2 && bases[iii] == bases[iii + 1] && numAgree < numBack) { - numAgree++; - iii++; - } - } - else { // Negative direction - while (iii >= 1 && bases[iii] == bases[iii - 1] && numAgree < numBack) { - numAgree++; - iii--; - } - } - - return numAgree; - } - - @Override - public void getValues(final GATKSAMRecord read, final Comparable[] comparable) { - for (int iii = 0; iii < read.getReadLength(); iii++) { - comparable[iii] = getValue(read, iii); // BUGBUG: this can be optimized - } - } - - // Used to get the covariate's value from input csv file in TableRecalibrationWalker - @Override - public final Comparable getValue(final String str) { - return Integer.parseInt(str); - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/MappingQualityCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/MappingQualityCovariate.java deleted file mode 100755 index 54fa18106..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/MappingQualityCovariate.java +++ /dev/null @@ -1,63 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -/* - * Copyright (c) 2009 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Nov 4, 2009 - * - * The Mapping Quality covariate. - */ - -public class MappingQualityCovariate implements ExperimentalCovariate { - - // Initialize any member variables using the command-line arguments passed to the walkers - @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - } - - // Used to pick out the covariate's value from attributes of the read - private Comparable getValue(final GATKSAMRecord read) { - return read.getMappingQuality(); - } - - // Used to get the covariate's value from input csv file in TableRecalibrationWalker - @Override - public final Comparable getValue(final String str) { - return Integer.parseInt(str); - } - - @Override - public void getValues(final GATKSAMRecord read, final Comparable[] comparable) { - for (int iii = 0; iii < read.getReadLength(); iii++) { - comparable[iii] = getValue(read); // BUGBUG: this can be optimized - } - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/MinimumNQSCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/MinimumNQSCovariate.java deleted file mode 100755 index ecaa55006..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/MinimumNQSCovariate.java +++ /dev/null @@ -1,79 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import net.sf.samtools.SAMRecord; -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -/* - * Copyright (c) 2009 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Nov 4, 2009 - * - * The Minimum Neighborhood Quality Score covariate, originally described by Chris Hartl. - * This covariate is the minimum base quality score in the read in a small window around the current base. - */ - -public class MinimumNQSCovariate implements ExperimentalCovariate { - - private int windowReach; // How far in each direction from the current base to look - - // Initialize any member variables using the command-line arguments passed to the walkers - @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - windowReach = RAC.WINDOW_SIZE / 2; // integer division - } - - // Used to pick out the covariate's value from attributes of the read - private Comparable getValue(final SAMRecord read, final int offset) { - - // Loop over the list of base quality scores in the window and find the minimum - final byte[] quals = read.getBaseQualities(); - int minQual = quals[offset]; - final int minIndex = Math.max(offset - windowReach, 0); - final int maxIndex = Math.min(offset + windowReach, quals.length - 1); - for (int iii = minIndex; iii < maxIndex; iii++) { - if (quals[iii] < minQual) { - minQual = quals[iii]; - } - } - return minQual; - } - - @Override - public void getValues(final GATKSAMRecord read, final Comparable[] comparable) { - for (int iii = 0; iii < read.getReadLength(); iii++) { - comparable[iii] = getValue(read, iii); // BUGBUG: this can be optimized - } - } - - // Used to get the covariate's value from input csv file in TableRecalibrationWalker - @Override - public final Comparable getValue(final String str) { - return Integer.parseInt(str); - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/PositionCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/PositionCovariate.java deleted file mode 100755 index fd720697f..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/PositionCovariate.java +++ /dev/null @@ -1,69 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import net.sf.samtools.SAMRecord; -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -/* - * Copyright (c) 2009 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Nov 18, 2009 - * - * The Position covariate. It is a lot like the Cycle covariate except it always returns the offset regardless of which platform the read came from. - * This is the Solexa definition of machine cycle and the covariate that was always being used in the original version of the recalibrator. - */ - -public class PositionCovariate implements ExperimentalCovariate { - - // Initialize any member variables using the command-line arguments passed to the walkers - @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - } - - // Used to pick out the covariate's value from attributes of the read - private Comparable getValue(final SAMRecord read, final int offset) { - int cycle = offset; - if (read.getReadNegativeStrandFlag()) { - cycle = read.getReadLength() - (offset + 1); - } - return cycle; - } - - @Override - public void getValues(final GATKSAMRecord read, final Comparable[] comparable) { - for (int iii = 0; iii < read.getReadLength(); iii++) { - comparable[iii] = getValue(read, iii); // BUGBUG: this can be optimized - } - } - - // Used to get the covariate's value from input csv file in TableRecalibrationWalker - @Override - public final Comparable getValue(final String str) { - return Integer.parseInt(str); - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/PrimerRoundCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/PrimerRoundCovariate.java deleted file mode 100755 index d6bdea5bf..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/PrimerRoundCovariate.java +++ /dev/null @@ -1,76 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import net.sf.samtools.SAMRecord; -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -/* - * Copyright (c) 2009 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Nov 13, 2009 - * - * The Primer Round covariate. - * For Solexa and 454 this is the same value of the length of the read. - * For SOLiD this is different for each position according to http://www3.appliedbiosystems.com/cms/groups/mcb_marketing/documents/generaldocuments/cms_057511.pdf - */ - -public class PrimerRoundCovariate implements ExperimentalCovariate { - - // Initialize any member variables using the command-line arguments passed to the walkers - @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - } - - // Used to pick out the covariate's value from attributes of the read - private Comparable getValue(final SAMRecord read, final int offset) { - if (read.getReadGroup().getPlatform().equalsIgnoreCase("SOLID") || read.getReadGroup().getPlatform().equalsIgnoreCase("ABI_SOLID")) { - int pos = offset; - if (read.getReadNegativeStrandFlag()) { - pos = read.getReadLength() - (offset + 1); - } - return pos % 5; // the primer round according to http://www3.appliedbiosystems.com/cms/groups/mcb_marketing/documents/generaldocuments/cms_057511.pdf - } - else { - return 1; // nothing to do here because it is always the same - } - - } - - @Override - public void getValues(final GATKSAMRecord read, final Comparable[] comparable) { - for (int iii = 0; iii < read.getReadLength(); iii++) { - comparable[iii] = getValue(read, iii); // BUGBUG: this can be optimized - } - } - - // Used to get the covariate's value from input csv file in TableRecalibrationWalker - @Override - public final Comparable getValue(final String str) { - return Integer.parseInt(str); - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/QualityScoreCovariate.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/QualityScoreCovariate.java deleted file mode 100755 index a29a0530c..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/QualityScoreCovariate.java +++ /dev/null @@ -1,61 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -import java.util.Arrays; - -/* - * Copyright (c) 2009 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Nov 3, 2009 - * - * The Reported Quality Score covariate. - */ - -public class QualityScoreCovariate implements RequiredCovariate { - - // Initialize any member variables using the command-line arguments passed to the walkers - @Override - public void initialize(final RecalibrationArgumentCollection RAC) { - } - - @Override - public void getValues(final GATKSAMRecord read, final Comparable[] comparable) { - byte[] baseQualities = read.getBaseQualities(); - for (int i = 0; i < read.getReadLength(); i++) { - comparable[i] = (int) baseQualities[i]; - } - } - - // Used to get the covariate's value from input csv file in TableRecalibrationWalker - @Override - public final Comparable getValue(final String str) { - return Integer.parseInt(str); - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalDataManager.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalDataManager.java deleted file mode 100644 index 1a6b8cfcb..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalDataManager.java +++ /dev/null @@ -1,697 +0,0 @@ -/* - * Copyright (c) 2010 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import net.sf.samtools.SAMUtils; -import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; -import org.broadinstitute.sting.utils.BaseUtils; -import org.broadinstitute.sting.utils.Utils; -import org.broadinstitute.sting.utils.collections.NestedHashMap; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.AlignmentUtils; -import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; -import org.broadinstitute.sting.utils.sam.ReadUtils; - -import java.util.ArrayList; -import java.util.List; -import java.util.Map; - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Nov 6, 2009 - * - * This helper class holds the data HashMap as well as submaps that represent the marginal distributions collapsed over all needed dimensions. - * It also has static methods that are used to perform the various solid recalibration modes that attempt to correct the reference bias. - * This class holds the parsing methods that are shared between CountCovariates and TableRecalibration. - */ - -public class RecalDataManager { - - public final NestedHashMap data; // The full dataset - private final NestedHashMap dataCollapsedReadGroup; // Table where everything except read group has been collapsed - private final NestedHashMap dataCollapsedQualityScore; // Table where everything except read group and quality score has been collapsed - private final ArrayList dataCollapsedByCovariate; // Tables where everything except read group, quality score, and given covariate has been collapsed - - public final static String ORIGINAL_QUAL_ATTRIBUTE_TAG = "OQ"; // The tag that holds the original quality scores - public final static String COLOR_SPACE_QUAL_ATTRIBUTE_TAG = "CQ"; // The tag that holds the color space quality scores for SOLID bams - public final static String COLOR_SPACE_ATTRIBUTE_TAG = "CS"; // The tag that holds the color space for SOLID bams - public final static String COLOR_SPACE_INCONSISTENCY_TAG = "ZC"; // A new tag made up for the recalibrator which will hold an array of ints which say if this base is inconsistent with its color - private static boolean warnUserNullPlatform = false; - - public enum SOLID_RECAL_MODE { - /** - * Treat reference inserted bases as reference matching bases. Very unsafe! - */ - DO_NOTHING, - /** - * Set reference inserted bases and the previous base (because of color space alignment details) to Q0. This is the default option. - */ - SET_Q_ZERO, - /** - * In addition to setting the quality scores to zero, also set the base itself to 'N'. This is useful to visualize in IGV. - */ - SET_Q_ZERO_BASE_N, - /** - * Look at the color quality scores and probabilistically decide to change the reference inserted base to be the base which is implied by the original color space instead of the reference. - */ - REMOVE_REF_BIAS - } - - public enum SOLID_NOCALL_STRATEGY { - /** - * When a no call is detected throw an exception to alert the user that recalibrating this SOLiD data is unsafe. This is the default option. - */ - THROW_EXCEPTION, - /** - * Leave the read in the output bam completely untouched. This mode is only okay if the no calls are very rare. - */ - LEAVE_READ_UNRECALIBRATED, - /** - * Mark these reads as failing vendor quality checks so they can be filtered out by downstream analyses. - */ - PURGE_READ - } - - public RecalDataManager() { - data = new NestedHashMap(); - dataCollapsedReadGroup = null; - dataCollapsedQualityScore = null; - dataCollapsedByCovariate = null; - } - - public RecalDataManager(final boolean createCollapsedTables, final int numCovariates) { - if (createCollapsedTables) { // Initialize all the collapsed tables, only used by TableRecalibrationWalker - data = null; - dataCollapsedReadGroup = new NestedHashMap(); - dataCollapsedQualityScore = new NestedHashMap(); - dataCollapsedByCovariate = new ArrayList(); - for (int iii = 0; iii < numCovariates - 2; iii++) { // readGroup and QualityScore aren't counted here, their tables are separate - dataCollapsedByCovariate.add(new NestedHashMap()); - } - } - else { - data = new NestedHashMap(); - dataCollapsedReadGroup = null; - dataCollapsedQualityScore = null; - dataCollapsedByCovariate = null; - } - } - - /** - * Add the given mapping to all of the collapsed hash tables - * - * @param key The list of comparables that is the key for this mapping - * @param fullDatum The RecalDatum which is the data for this mapping - * @param PRESERVE_QSCORES_LESS_THAN The threshold in report quality for adding to the aggregate collapsed table - */ - public final void addToAllTables(final Object[] key, final RecalDatum fullDatum, final int PRESERVE_QSCORES_LESS_THAN) { - - // The full dataset isn't actually ever used for anything because of the sequential calculation so no need to keep the full data HashMap around - //data.put(key, thisDatum); // add the mapping to the main table - - final int qualityScore = Integer.parseInt(key[1].toString()); - final Object[] readGroupCollapsedKey = new Object[1]; - final Object[] qualityScoreCollapsedKey = new Object[2]; - final Object[] covariateCollapsedKey = new Object[3]; - RecalDatum collapsedDatum; - - // Create dataCollapsedReadGroup, the table where everything except read group has been collapsed - if (qualityScore >= PRESERVE_QSCORES_LESS_THAN) { - readGroupCollapsedKey[0] = key[0]; // Make a new key with just the read group - collapsedDatum = (RecalDatum) dataCollapsedReadGroup.get(readGroupCollapsedKey); - if (collapsedDatum == null) { - dataCollapsedReadGroup.put(new RecalDatum(fullDatum), readGroupCollapsedKey); - } - else { - collapsedDatum.combine(fullDatum); // using combine instead of increment in order to calculate overall aggregateQReported - } - } - - // Create dataCollapsedQuality, the table where everything except read group and quality score has been collapsed - qualityScoreCollapsedKey[0] = key[0]; // Make a new key with the read group ... - qualityScoreCollapsedKey[1] = key[1]; // and quality score - collapsedDatum = (RecalDatum) dataCollapsedQualityScore.get(qualityScoreCollapsedKey); - if (collapsedDatum == null) { - dataCollapsedQualityScore.put(new RecalDatum(fullDatum), qualityScoreCollapsedKey); - } - else { - collapsedDatum.increment(fullDatum); - } - - // Create dataCollapsedByCovariate's, the tables where everything except read group, quality score, and given covariate has been collapsed - for (int iii = 0; iii < dataCollapsedByCovariate.size(); iii++) { - covariateCollapsedKey[0] = key[0]; // Make a new key with the read group ... - covariateCollapsedKey[1] = key[1]; // and quality score ... - final Object theCovariateElement = key[iii + 2]; // and the given covariate - if (theCovariateElement != null) { - covariateCollapsedKey[2] = theCovariateElement; - collapsedDatum = (RecalDatum) dataCollapsedByCovariate.get(iii).get(covariateCollapsedKey); - if (collapsedDatum == null) { - dataCollapsedByCovariate.get(iii).put(new RecalDatum(fullDatum), covariateCollapsedKey); - } - else { - collapsedDatum.increment(fullDatum); - } - } - } - } - - /** - * Loop over all the collapsed tables and turn the recalDatums found there into an empirical quality score - * that will be used in the sequential calculation in TableRecalibrationWalker - * - * @param smoothing The smoothing parameter that goes into empirical quality score calculation - * @param maxQual At which value to cap the quality scores - */ - public final void generateEmpiricalQualities(final int smoothing, final int maxQual) { - - recursivelyGenerateEmpiricalQualities(dataCollapsedReadGroup.data, smoothing, maxQual); - recursivelyGenerateEmpiricalQualities(dataCollapsedQualityScore.data, smoothing, maxQual); - for (NestedHashMap map : dataCollapsedByCovariate) { - recursivelyGenerateEmpiricalQualities(map.data, smoothing, maxQual); - checkForSingletons(map.data); - } - } - - private void recursivelyGenerateEmpiricalQualities(final Map data, final int smoothing, final int maxQual) { - - for (Object comp : data.keySet()) { - final Object val = data.get(comp); - if (val instanceof RecalDatum) { // We are at the end of the nested hash maps - ((RecalDatum) val).calcCombinedEmpiricalQuality(smoothing, maxQual); - } - else { // Another layer in the nested hash map - recursivelyGenerateEmpiricalQualities((Map) val, smoothing, maxQual); - } - } - } - - private void checkForSingletons(final Map data) { - // todo -- this looks like it's better just as a data.valueSet() call? - for (Object comp : data.keySet()) { - final Object val = data.get(comp); - if (val instanceof RecalDatum) { // We are at the end of the nested hash maps - if (data.keySet().size() == 1) { - data.clear(); // don't TableRecalibrate a non-required covariate if it only has one element because that correction has already been done ... - // in a previous step of the sequential calculation model - } - } - else { // Another layer in the nested hash map - checkForSingletons((Map) val); - } - } - } - - /** - * Get the appropriate collapsed table out of the set of all the tables held by this Object - * - * @param covariate Which covariate indexes the desired collapsed HashMap - * @return The desired collapsed HashMap - */ - public final NestedHashMap getCollapsedTable(final int covariate) { - if (covariate == 0) { - return dataCollapsedReadGroup; // Table where everything except read group has been collapsed - } - else if (covariate == 1) { - return dataCollapsedQualityScore; // Table where everything except read group and quality score has been collapsed - } - else { - return dataCollapsedByCovariate.get(covariate - 2); // Table where everything except read group, quality score, and given covariate has been collapsed - } - } - - /** - * Section of code shared between the two recalibration walkers which uses the command line arguments to adjust attributes of the read such as quals or platform string - * - * @param read The read to adjust - * @param RAC The list of shared command line arguments - */ - public static void parseSAMRecord(final GATKSAMRecord read, final RecalibrationArgumentCollection RAC) { - GATKSAMReadGroupRecord readGroup = ((GATKSAMRecord) read).getReadGroup(); - - if (RAC.FORCE_PLATFORM != null && (readGroup.getPlatform() == null || !readGroup.getPlatform().equals(RAC.FORCE_PLATFORM))) { - readGroup.setPlatform(RAC.FORCE_PLATFORM); - } - - if (readGroup.getPlatform() == null) { - if (RAC.DEFAULT_PLATFORM != null) { - if (!warnUserNullPlatform) { - Utils.warnUser("The input .bam file contains reads with no platform information. " + - "Defaulting to platform = " + RAC.DEFAULT_PLATFORM + ". " + - "First observed at read with name = " + read.getReadName()); - warnUserNullPlatform = true; - } - readGroup.setPlatform(RAC.DEFAULT_PLATFORM); - } - else { - throw new UserException.MalformedBAM(read, "The input .bam file contains reads with no platform information. First observed at read with name = " + read.getReadName()); - } - } - } - - /** - * Parse through the color space of the read and add a new tag to the SAMRecord that says which bases are inconsistent with the color space - * - * @param read The SAMRecord to parse - */ - public static void parseColorSpace(final GATKSAMRecord read) { - - // If this is a SOLID read then we have to check if the color space is inconsistent. This is our only sign that SOLID has inserted the reference base - if (ReadUtils.isSOLiDRead(read)) { - if (read.getAttribute(RecalDataManager.COLOR_SPACE_INCONSISTENCY_TAG) == null) { // Haven't calculated the inconsistency array yet for this read - final Object attr = read.getAttribute(RecalDataManager.COLOR_SPACE_ATTRIBUTE_TAG); - if (attr != null) { - byte[] colorSpace; - if (attr instanceof String) { - colorSpace = ((String) attr).getBytes(); - } - else { - throw new UserException.MalformedBAM(read, String.format("Value encoded by %s in %s isn't a string!", RecalDataManager.COLOR_SPACE_ATTRIBUTE_TAG, read.getReadName())); - } - - // Loop over the read and calculate first the inferred bases from the color and then check if it is consistent with the read - byte[] readBases = read.getReadBases(); - if (read.getReadNegativeStrandFlag()) { - readBases = BaseUtils.simpleReverseComplement(read.getReadBases()); - } - final byte[] inconsistency = new byte[readBases.length]; - int iii; - byte prevBase = colorSpace[0]; // The sentinel - for (iii = 0; iii < readBases.length; iii++) { - final byte thisBase = getNextBaseFromColor(read, prevBase, colorSpace[iii + 1]); - inconsistency[iii] = (byte) (thisBase == readBases[iii] ? 0 : 1); - prevBase = readBases[iii]; - } - read.setAttribute(RecalDataManager.COLOR_SPACE_INCONSISTENCY_TAG, inconsistency); - - } - else { - throw new UserException.MalformedBAM(read, "Unable to find color space information in SOLiD read. First observed at read with name = " + read.getReadName() + - " Unfortunately this .bam file can not be recalibrated without color space information because of potential reference bias."); - } - } - } - } - - /** - * Parse through the color space of the read and apply the desired --solid_recal_mode correction to the bases - * This method doesn't add the inconsistent tag to the read like parseColorSpace does - * - * @param read The SAMRecord to parse - * @param originalQualScores The array of original quality scores to modify during the correction - * @param solidRecalMode Which mode of solid recalibration to apply - * @param refBases The reference for this read - * @return A new array of quality scores that have been ref bias corrected - */ - public static byte[] calcColorSpace(final GATKSAMRecord read, byte[] originalQualScores, final SOLID_RECAL_MODE solidRecalMode, final byte[] refBases) { - - final Object attr = read.getAttribute(RecalDataManager.COLOR_SPACE_ATTRIBUTE_TAG); - if (attr != null) { - byte[] colorSpace; - if (attr instanceof String) { - colorSpace = ((String) attr).getBytes(); - } - else { - throw new ReviewedStingException(String.format("Value encoded by %s in %s isn't a string!", RecalDataManager.COLOR_SPACE_ATTRIBUTE_TAG, read.getReadName())); - } - - // Loop over the read and calculate first the inferred bases from the color and then check if it is consistent with the read - byte[] readBases = read.getReadBases(); - final byte[] colorImpliedBases = readBases.clone(); - byte[] refBasesDirRead = AlignmentUtils.alignmentToByteArray(read.getCigar(), read.getReadBases(), refBases); //BUGBUG: This needs to change when read walkers are changed to give the aligned refBases - if (read.getReadNegativeStrandFlag()) { - readBases = BaseUtils.simpleReverseComplement(read.getReadBases()); - refBasesDirRead = BaseUtils.simpleReverseComplement(refBasesDirRead.clone()); - } - final int[] inconsistency = new int[readBases.length]; - byte prevBase = colorSpace[0]; // The sentinel - for (int iii = 0; iii < readBases.length; iii++) { - final byte thisBase = getNextBaseFromColor(read, prevBase, colorSpace[iii + 1]); - colorImpliedBases[iii] = thisBase; - inconsistency[iii] = (thisBase == readBases[iii] ? 0 : 1); - prevBase = readBases[iii]; - } - - // Now that we have the inconsistency array apply the desired correction to the inconsistent bases - if (solidRecalMode == SOLID_RECAL_MODE.SET_Q_ZERO) { // Set inconsistent bases and the one before it to Q0 - final boolean setBaseN = false; - originalQualScores = solidRecalSetToQZero(read, readBases, inconsistency, originalQualScores, refBasesDirRead, setBaseN); - } - else if (solidRecalMode == SOLID_RECAL_MODE.SET_Q_ZERO_BASE_N) { - final boolean setBaseN = true; - originalQualScores = solidRecalSetToQZero(read, readBases, inconsistency, originalQualScores, refBasesDirRead, setBaseN); - } - else if (solidRecalMode == SOLID_RECAL_MODE.REMOVE_REF_BIAS) { // Use the color space quality to probabilistically remove ref bases at inconsistent color space bases - solidRecalRemoveRefBias(read, readBases, inconsistency, colorImpliedBases, refBasesDirRead); - } - - } - else { - throw new UserException.MalformedBAM(read, "Unable to find color space information in SOLiD read. First observed at read with name = " + read.getReadName() + - " Unfortunately this .bam file can not be recalibrated without color space information because of potential reference bias."); - } - - return originalQualScores; - } - - public static boolean checkNoCallColorSpace(final GATKSAMRecord read) { - if (ReadUtils.isSOLiDRead(read)) { - final Object attr = read.getAttribute(RecalDataManager.COLOR_SPACE_ATTRIBUTE_TAG); - if (attr != null) { - byte[] colorSpace; - if (attr instanceof String) { - colorSpace = ((String) attr).substring(1).getBytes(); // trim off the Sentinel - } - else { - throw new ReviewedStingException(String.format("Value encoded by %s in %s isn't a string!", RecalDataManager.COLOR_SPACE_ATTRIBUTE_TAG, read.getReadName())); - } - - for (byte color : colorSpace) { - if (color != (byte) '0' && color != (byte) '1' && color != (byte) '2' && color != (byte) '3') { - return true; // There is a bad color in this SOLiD read and the user wants to skip over it - } - } - - } - else { - throw new UserException.MalformedBAM(read, "Unable to find color space information in SOLiD read. First observed at read with name = " + read.getReadName() + - " Unfortunately this .bam file can not be recalibrated without color space information because of potential reference bias."); - } - } - - return false; // There aren't any color no calls in this SOLiD read - } - - /** - * Perform the SET_Q_ZERO solid recalibration. Inconsistent color space bases and their previous base are set to quality zero - * - * @param read The SAMRecord to recalibrate - * @param readBases The bases in the read which have been RC'd if necessary - * @param inconsistency The array of 1/0 that says if this base is inconsistent with its color - * @param originalQualScores The array of original quality scores to set to zero if needed - * @param refBases The reference which has been RC'd if necessary - * @param setBaseN Should we also set the base to N as well as quality zero in order to visualize in IGV or something similar - * @return The byte array of original quality scores some of which might have been set to zero - */ - private static byte[] solidRecalSetToQZero(final GATKSAMRecord read, byte[] readBases, final int[] inconsistency, final byte[] originalQualScores, final byte[] refBases, final boolean setBaseN) { - - final boolean negStrand = read.getReadNegativeStrandFlag(); - for (int iii = 1; iii < originalQualScores.length; iii++) { - if (inconsistency[iii] == 1) { - if (readBases[iii] == refBases[iii]) { - if (negStrand) { - originalQualScores[originalQualScores.length - (iii + 1)] = (byte) 0; - } - else { - originalQualScores[iii] = (byte) 0; - } - if (setBaseN) { - readBases[iii] = (byte) 'N'; - } - } - // Set the prev base to Q0 as well - if (readBases[iii - 1] == refBases[iii - 1]) { - if (negStrand) { - originalQualScores[originalQualScores.length - iii] = (byte) 0; - } - else { - originalQualScores[iii - 1] = (byte) 0; - } - if (setBaseN) { - readBases[iii - 1] = (byte) 'N'; - } - } - } - } - if (negStrand) { - readBases = BaseUtils.simpleReverseComplement(readBases.clone()); // Put the bases back in reverse order to stuff them back in the read - } - read.setReadBases(readBases); - - return originalQualScores; - } - - /** - * Peform the REMOVE_REF_BIAS solid recalibration. Look at the color space qualities and probabilistically decide if the base should be change to match the color or left as reference - * - * @param read The SAMRecord to recalibrate - * @param readBases The bases in the read which have been RC'd if necessary - * @param inconsistency The array of 1/0 that says if this base is inconsistent with its color - * @param colorImpliedBases The bases implied by the color space, RC'd if necessary - * @param refBases The reference which has been RC'd if necessary - */ - private static void solidRecalRemoveRefBias(final GATKSAMRecord read, byte[] readBases, final int[] inconsistency, final byte[] colorImpliedBases, final byte[] refBases) { - - final Object attr = read.getAttribute(RecalDataManager.COLOR_SPACE_QUAL_ATTRIBUTE_TAG); - if (attr != null) { - byte[] colorSpaceQuals; - if (attr instanceof String) { - String x = (String) attr; - colorSpaceQuals = x.getBytes(); - SAMUtils.fastqToPhred(colorSpaceQuals); - } - else { - throw new ReviewedStingException(String.format("Value encoded by %s in %s isn't a string!", RecalDataManager.COLOR_SPACE_QUAL_ATTRIBUTE_TAG, read.getReadName())); - } - - for (int iii = 1; iii < inconsistency.length - 1; iii++) { - if (inconsistency[iii] == 1) { - for (int jjj = iii - 1; jjj <= iii; jjj++) { // Correct this base and the one before it along the direction of the read - if (jjj == iii || inconsistency[jjj] == 0) { // Don't want to correct the previous base a second time if it was already corrected in the previous step - if (readBases[jjj] == refBases[jjj]) { - if (colorSpaceQuals[jjj] == colorSpaceQuals[jjj + 1]) { // Equal evidence for the color implied base and the reference base, so flip a coin - final int rand = GenomeAnalysisEngine.getRandomGenerator().nextInt(2); - if (rand == 0) { // The color implied base won the coin flip - readBases[jjj] = colorImpliedBases[jjj]; - } - } - else { - final int maxQuality = Math.max((int) colorSpaceQuals[jjj], (int) colorSpaceQuals[jjj + 1]); - final int minQuality = Math.min((int) colorSpaceQuals[jjj], (int) colorSpaceQuals[jjj + 1]); - int diffInQuality = maxQuality - minQuality; - int numLow = minQuality; - if (numLow == 0) { - numLow++; - diffInQuality++; - } - final int numHigh = Math.round(numLow * (float) Math.pow(10.0f, (float) diffInQuality / 10.0f)); // The color with higher quality is exponentially more likely - final int rand = GenomeAnalysisEngine.getRandomGenerator().nextInt(numLow + numHigh); - if (rand >= numLow) { // higher q score won - if (maxQuality == (int) colorSpaceQuals[jjj]) { - readBases[jjj] = colorImpliedBases[jjj]; - } // else ref color had higher q score, and won out, so nothing to do here - } - else { // lower q score won - if (minQuality == (int) colorSpaceQuals[jjj]) { - readBases[jjj] = colorImpliedBases[jjj]; - } // else ref color had lower q score, and won out, so nothing to do here - } - } - } - } - } - } - } - - if (read.getReadNegativeStrandFlag()) { - readBases = BaseUtils.simpleReverseComplement(readBases.clone()); // Put the bases back in reverse order to stuff them back in the read - } - read.setReadBases(readBases); - } - else { // No color space quality tag in file - throw new UserException.MalformedBAM(read, "REMOVE_REF_BIAS recal mode requires color space qualities but they can't be found for read: " + read.getReadName()); - } - } - - /** - * Given the base and the color calculate the next base in the sequence - * - * @param prevBase The base - * @param color The color - * @return The next base in the sequence - */ - private static byte getNextBaseFromColor(GATKSAMRecord read, final byte prevBase, final byte color) { - switch (color) { - case '0': - return prevBase; - case '1': - return performColorOne(prevBase); - case '2': - return performColorTwo(prevBase); - case '3': - return performColorThree(prevBase); - default: - throw new UserException.MalformedBAM(read, "Unrecognized color space in SOLID read, color = " + (char) color + - " Unfortunately this bam file can not be recalibrated without full color space information because of potential reference bias."); - } - } - - /** - * Check if this base is inconsistent with its color space. If it is then SOLID inserted the reference here and we should reduce the quality - * - * @param read The read which contains the color space to check against - * @param offset The offset in the read at which to check - * @return Returns true if the base was inconsistent with the color space - */ - public static boolean isInconsistentColorSpace(final GATKSAMRecord read, final int offset) { - final Object attr = read.getAttribute(RecalDataManager.COLOR_SPACE_INCONSISTENCY_TAG); - if (attr != null) { - final byte[] inconsistency = (byte[]) attr; - // NOTE: The inconsistency array is in the direction of the read, not aligned to the reference! - if (read.getReadNegativeStrandFlag()) { // Negative direction - return inconsistency[inconsistency.length - offset - 1] != (byte) 0; - } - else { // Forward direction - return inconsistency[offset] != (byte) 0; - } - - // This block of code is for if you want to check both the offset and the next base for color space inconsistency - //if( read.getReadNegativeStrandFlag() ) { // Negative direction - // if( offset == 0 ) { - // return inconsistency[0] != 0; - // } else { - // return (inconsistency[inconsistency.length - offset - 1] != 0) || (inconsistency[inconsistency.length - offset] != 0); - // } - //} else { // Forward direction - // if( offset == inconsistency.length - 1 ) { - // return inconsistency[inconsistency.length - 1] != 0; - // } else { - // return (inconsistency[offset] != 0) || (inconsistency[offset + 1] != 0); - // } - //} - - } - else { // No inconsistency array, so nothing is inconsistent - return false; - } - } - - /** - * Computes all requested covariates for every offset in the given read - * by calling covariate.getValues(..). - * - * @param gatkRead The read for which to compute covariate values. - * @param requestedCovariates The list of requested covariates. - * @return An array of covariate values where result[i][j] is the covariate - * value for the ith position in the read and the jth covariate in - * reqeustedCovariates list. - */ - public static Comparable[][] computeCovariates(final GATKSAMRecord gatkRead, final List requestedCovariates) { - //compute all covariates for this read - final int numRequestedCovariates = requestedCovariates.size(); - final int readLength = gatkRead.getReadLength(); - - final Comparable[][] covariateValues_offset_x_covar = new Comparable[readLength][numRequestedCovariates]; - final Comparable[] tempCovariateValuesHolder = new Comparable[readLength]; - - for (int i = 0; i < numRequestedCovariates; i++) { // Loop through the list of requested covariates and compute the values of each covariate for all positions in this read - requestedCovariates.get(i).getValues(gatkRead, tempCovariateValuesHolder); - for (int j = 0; j < readLength; j++) - covariateValues_offset_x_covar[j][i] = tempCovariateValuesHolder[j]; // copy values into a 2D array that allows all covar types to be extracted at once for an offset j by doing covariateValues_offset_x_covar[j]. This avoids the need to later iterate over covar types. - } - - return covariateValues_offset_x_covar; - } - - /** - * Perform a certain transversion (A <-> C or G <-> T) on the base. - * - * @param base the base [AaCcGgTt] - * @return the transversion of the base, or the input base if it's not one of the understood ones - */ - private static byte performColorOne(byte base) { - switch (base) { - case 'A': - case 'a': - return 'C'; - case 'C': - case 'c': - return 'A'; - case 'G': - case 'g': - return 'T'; - case 'T': - case 't': - return 'G'; - default: - return base; - } - } - - /** - * Perform a transition (A <-> G or C <-> T) on the base. - * - * @param base the base [AaCcGgTt] - * @return the transition of the base, or the input base if it's not one of the understood ones - */ - private static byte performColorTwo(byte base) { - switch (base) { - case 'A': - case 'a': - return 'G'; - case 'C': - case 'c': - return 'T'; - case 'G': - case 'g': - return 'A'; - case 'T': - case 't': - return 'C'; - default: - return base; - } - } - - /** - * Return the complement (A <-> T or C <-> G) of a base. - * - * @param base the base [AaCcGgTt] - * @return the complementary base, or the input base if it's not one of the understood ones - */ - private static byte performColorThree(byte base) { - switch (base) { - case 'A': - case 'a': - return 'T'; - case 'C': - case 'c': - return 'G'; - case 'G': - case 'g': - return 'C'; - case 'T': - case 't': - return 'A'; - default: - return base; - } - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalDatum.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalDatum.java deleted file mode 100755 index aa9098549..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalDatum.java +++ /dev/null @@ -1,118 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -/* - * Copyright (c) 2009 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Nov 3, 2009 - * - * An individual piece of recalibration data. Each bin counts up the number of observations and the number of reference mismatches seen for that combination of covariates. - */ - -public class RecalDatum extends RecalDatumOptimized { - - private double estimatedQReported; // estimated reported quality score based on combined data's individual q-reporteds and number of observations - private double empiricalQuality; // the empirical quality for datums that have been collapsed together (by read group and reported quality, for example) - - //--------------------------------------------------------------------------------------------------------------- - // - // constructors - // - //--------------------------------------------------------------------------------------------------------------- - - public RecalDatum() { - numObservations = 0L; - numMismatches = 0L; - estimatedQReported = 0.0; - empiricalQuality = 0.0; - } - - public RecalDatum( final long _numObservations, final long _numMismatches, final double _estimatedQReported, final double _empiricalQuality ) { - numObservations = _numObservations; - numMismatches = _numMismatches; - estimatedQReported = _estimatedQReported; - empiricalQuality = _empiricalQuality; - } - - public RecalDatum( final RecalDatum copy ) { - this.numObservations = copy.numObservations; - this.numMismatches = copy.numMismatches; - this.estimatedQReported = copy.estimatedQReported; - this.empiricalQuality = copy.empiricalQuality; - } - - //--------------------------------------------------------------------------------------------------------------- - // - // increment methods - // - //--------------------------------------------------------------------------------------------------------------- - - public final void combine( final RecalDatum other ) { - final double sumErrors = this.calcExpectedErrors() + other.calcExpectedErrors(); - this.increment( other.numObservations, other.numMismatches ); - this.estimatedQReported = -10 * Math.log10(sumErrors / (double)this.numObservations); - //if( this.estimatedQReported > QualityUtils.MAX_REASONABLE_Q_SCORE ) { this.estimatedQReported = QualityUtils.MAX_REASONABLE_Q_SCORE; } - } - - //--------------------------------------------------------------------------------------------------------------- - // - // methods to derive empirical quality score - // - //--------------------------------------------------------------------------------------------------------------- - - public final void calcCombinedEmpiricalQuality( final int smoothing, final int maxQual ) { - this.empiricalQuality = empiricalQualDouble(smoothing, maxQual); // cache the value so we don't call log over and over again - } - - //--------------------------------------------------------------------------------------------------------------- - // - // misc. methods - // - //--------------------------------------------------------------------------------------------------------------- - - public final double getEstimatedQReported() { - return estimatedQReported; - } - - public final double getEmpiricalQuality() { - return empiricalQuality; - } - - private double calcExpectedErrors() { - return (double)this.numObservations * qualToErrorProb( estimatedQReported ); - } - - private double qualToErrorProb( final double qual ) { - return Math.pow(10.0, qual / -10.0); - } - - - @Override - public String toString() { - return String.format("%d,%d,%d,%d", numObservations, numMismatches, (byte) Math.floor(getEmpiricalQuality()), (byte) Math.floor(getEstimatedQReported())); - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalDatumOptimized.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalDatumOptimized.java deleted file mode 100755 index f04989fa5..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalDatumOptimized.java +++ /dev/null @@ -1,135 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.utils.BaseUtils; -import org.broadinstitute.sting.utils.QualityUtils; - -import java.util.List; - -/* - * Copyright (c) 2010 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Jan 6, 2010 - * - * An individual piece of recalibration data. Optimized for CountCovariates. Extras added to make TableRecalibration fast have been removed. - * Each bin counts up the number of observations and the number of reference mismatches seen for that combination of covariates. - */ - -public class RecalDatumOptimized { - - protected long numObservations; // number of bases seen in total - protected long numMismatches; // number of bases seen that didn't match the reference - - //--------------------------------------------------------------------------------------------------------------- - // - // constructors - // - //--------------------------------------------------------------------------------------------------------------- - - public RecalDatumOptimized() { - numObservations = 0L; - numMismatches = 0L; - } - - public RecalDatumOptimized( final long _numObservations, final long _numMismatches) { - numObservations = _numObservations; - numMismatches = _numMismatches; - } - - public RecalDatumOptimized( final RecalDatumOptimized copy ) { - this.numObservations = copy.numObservations; - this.numMismatches = copy.numMismatches; - } - - //--------------------------------------------------------------------------------------------------------------- - // - // increment methods - // - //--------------------------------------------------------------------------------------------------------------- - - public synchronized final void increment( final long incObservations, final long incMismatches ) { - numObservations += incObservations; - numMismatches += incMismatches; - } - - public synchronized final void increment( final RecalDatumOptimized other ) { - increment( other.numObservations, other.numMismatches ); - } - - public synchronized final void increment( final List data ) { - for ( RecalDatumOptimized other : data ) { - this.increment( other ); - } - } - - public synchronized final void incrementBaseCounts( final byte curBase, final byte refBase ) { - increment( 1, BaseUtils.simpleBaseToBaseIndex(curBase) == BaseUtils.simpleBaseToBaseIndex(refBase) ? 0 : 1 ); // increment takes num observations, then num mismatches - } - - //--------------------------------------------------------------------------------------------------------------- - // - // methods to derive empirical quality score - // - //--------------------------------------------------------------------------------------------------------------- - - public final double empiricalQualDouble( final int smoothing, final double maxQual ) { - final double doubleMismatches = (double) ( numMismatches + smoothing ); - final double doubleObservations = (double) ( numObservations + smoothing ); - double empiricalQual = -10 * Math.log10(doubleMismatches / doubleObservations); - if (empiricalQual > maxQual) { empiricalQual = maxQual; } - return empiricalQual; - } - public final double empiricalQualDouble() { return empiricalQualDouble( 0, QualityUtils.MAX_REASONABLE_Q_SCORE ); } // 'default' behavior is to use smoothing value of zero - - public final byte empiricalQualByte( final int smoothing ) { - final double doubleMismatches = (double) ( numMismatches + smoothing ); - final double doubleObservations = (double) ( numObservations + smoothing ); - return QualityUtils.probToQual( 1.0 - doubleMismatches / doubleObservations ); // This is capped at Q40 - } - public final byte empiricalQualByte() { return empiricalQualByte( 0 ); } // 'default' behavior is to use smoothing value of zero - - //--------------------------------------------------------------------------------------------------------------- - // - // misc. methods - // - //--------------------------------------------------------------------------------------------------------------- - - public final long getNumObservations() { - return numObservations; - } - - public final long getNumMismatches() { - return numMismatches; - } - - public final String outputToCSV( ) { - return String.format( "%d,%d,%d", numObservations, numMismatches, (int)empiricalQualByte() ); - } - public final String outputToCSV( final int smoothing ) { - return String.format( "%d,%d,%d", numObservations, numMismatches, (int)empiricalQualByte(smoothing) ); - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalibrationArgumentCollection.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalibrationArgumentCollection.java deleted file mode 100755 index 9752b1dee..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/RecalibrationArgumentCollection.java +++ /dev/null @@ -1,82 +0,0 @@ -/* - * Copyright (c) 2010 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.commandline.Argument; -import org.broadinstitute.sting.commandline.Hidden; - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Nov 27, 2009 - * - * A collection of the arguments that are common to both CovariateCounterWalker and TableRecalibrationWalker. - * This set of arguments will also be passed to the constructor of every Covariate when it is instantiated. - */ - -public class RecalibrationArgumentCollection { - - ////////////////////////////////// - // Shared Command Line Arguments - ////////////////////////////////// - @Hidden - @Argument(fullName = "default_platform", shortName = "dP", required = false, doc = "If a read has no platform then default to the provided String. Valid options are illumina, 454, and solid.") - public String DEFAULT_PLATFORM = null; - @Hidden - @Argument(fullName = "force_platform", shortName = "fP", required = false, doc = "If provided, the platform of EVERY read will be forced to be the provided String. Valid options are illumina, 454, and solid.") - public String FORCE_PLATFORM = null; - @Hidden - @Argument(fullName = "window_size_nqs", shortName = "nqs", doc = "The window size used by MinimumNQSCovariate for its calculation", required = false) - public int WINDOW_SIZE = 5; - - /** - * CountCovariates and TableRecalibration accept a --solid_recal_mode flag which governs how the recalibrator handles the - * reads which have had the reference inserted because of color space inconsistencies. - */ - @Argument(fullName = "solid_recal_mode", shortName = "sMode", required = false, doc = "How should we recalibrate solid bases in which the reference was inserted? Options = DO_NOTHING, SET_Q_ZERO, SET_Q_ZERO_BASE_N, or REMOVE_REF_BIAS") - public RecalDataManager.SOLID_RECAL_MODE SOLID_RECAL_MODE = RecalDataManager.SOLID_RECAL_MODE.SET_Q_ZERO; - - /** - * CountCovariates and TableRecalibration accept a --solid_nocall_strategy flag which governs how the recalibrator handles - * no calls in the color space tag. Unfortunately because of the reference inserted bases mentioned above, reads with no calls in - * their color space tag can not be recalibrated. - */ - @Argument(fullName = "solid_nocall_strategy", shortName = "solid_nocall_strategy", doc = "Defines the behavior of the recalibrator when it encounters no calls in the color space. Options = THROW_EXCEPTION, LEAVE_READ_UNRECALIBRATED, or PURGE_READ", required = false) - public RecalDataManager.SOLID_NOCALL_STRATEGY SOLID_NOCALL_STRATEGY = RecalDataManager.SOLID_NOCALL_STRATEGY.THROW_EXCEPTION; - - /** - * The context covariate will use a context of this size to calculate it's covariate value - */ - @Argument(fullName = "context_size", shortName = "cs", doc = "size of the k-mer context to be used", required = false) - public int CONTEXT_SIZE = 8; - - /** - * This window size tells the module in how big of a neighborhood around the current base it should look for the minimum base quality score. - */ - @Argument(fullName = "homopolymer_nback", shortName = "nback", doc = "The number of previous bases to look at in HomopolymerCovariate", required = false) - public int HOMOPOLYMER_NBACK = 7; - -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/TableRecalibrationWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/TableRecalibrationWalker.java deleted file mode 100644 index 08151321f..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/TableRecalibrationWalker.java +++ /dev/null @@ -1,580 +0,0 @@ -/* - * Copyright (c) 2010 The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import net.sf.samtools.*; -import net.sf.samtools.util.SequenceUtil; -import org.broadinstitute.sting.commandline.*; -import org.broadinstitute.sting.gatk.contexts.ReferenceContext; -import org.broadinstitute.sting.gatk.io.StingSAMFileWriter; -import org.broadinstitute.sting.gatk.refdata.ReadMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.*; -import org.broadinstitute.sting.utils.QualityUtils; -import org.broadinstitute.sting.utils.Utils; -import org.broadinstitute.sting.utils.baq.BAQ; -import org.broadinstitute.sting.utils.classloader.PluginManager; -import org.broadinstitute.sting.utils.collections.NestedHashMap; -import org.broadinstitute.sting.utils.exceptions.DynamicClassResolutionException; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; -import org.broadinstitute.sting.utils.text.TextFormattingUtils; -import org.broadinstitute.sting.utils.text.XReadLines; - -import java.io.File; -import java.io.FileNotFoundException; -import java.util.ArrayList; -import java.util.List; -import java.util.MissingResourceException; -import java.util.ResourceBundle; -import java.util.regex.Pattern; - -/** - * Second pass of the base quality score recalibration -- Uses the table generated by CountCovariates to update the base quality scores of the input bam file using a sequential table calculation making the base quality scores more accurately reflect the actual quality of the bases as measured by reference mismatch rate. - * - *

- * This walker is designed to work as the second pass in a two-pass processing step, doing a by-read traversal. For each - * base in each read this walker calculates various user-specified covariates (such as read group, reported quality score, - * cycle, and dinuc). Using these values as a key in a large hashmap the walker calculates an empirical base quality score - * and overwrites the quality score currently in the read. This walker then outputs a new bam file with these updated (recalibrated) reads. - * - *

- * See the GATK wiki for a tutorial and example recalibration accuracy plots. - * http://www.broadinstitute.org/gsa/wiki/index.php/Base_quality_score_recalibration - * - *

Input

- *

- * The input read data whose base quality scores need to be recalibrated. - *

- * The recalibration table file in CSV format that was generated by the CountCovariates walker. - *

- * - *

Output

- *

- * A bam file in which the quality scores in each read have been recalibrated. - *

- * - *

Examples

- *
- * java -Xmx4g -jar GenomeAnalysisTK.jar \
- *   -R resources/Homo_sapiens_assembly18.fasta \
- *   -I my_reads.bam \
- *   -T TableRecalibration \
- *   -o my_reads.recal.bam \
- *   -recalFile my_reads.recal_data.csv
- * 
- */ - -@BAQMode(QualityMode = BAQ.QualityMode.ADD_TAG, ApplicationTime = BAQ.ApplicationTime.ON_OUTPUT) -@WalkerName("TableRecalibration") -@Requires({DataSource.READS, DataSource.REFERENCE, DataSource.REFERENCE_BASES}) -// This walker requires -I input.bam, it also requires -R reference.fasta -public class TableRecalibrationWalker extends ReadWalker { - - public static final String PROGRAM_RECORD_NAME = "GATK TableRecalibration"; - - ///////////////////////////// - // Shared Arguments - ///////////////////////////// - @ArgumentCollection - private RecalibrationArgumentCollection RAC = new RecalibrationArgumentCollection(); - - ///////////////////////////// - // Command Line Arguments - ///////////////////////////// - /** - * After the header, data records occur one per line until the end of the file. The first several items on a line are the - * values of the individual covariates and will change depending on which covariates were specified at runtime. The last - * three items are the data- that is, number of observations for this combination of covariates, number of reference mismatches, - * and the raw empirical quality score calculated by phred-scaling the mismatch rate. - */ - @Input(fullName = "recal_file", shortName = "recalFile", required = true, doc = "Filename for the input covariates table recalibration .csv file") - public File RECAL_FILE = null; - /** - * A new bam file in which the quality scores in each read have been recalibrated. The alignment of the reads is left untouched. - */ - @Output(doc = "The output recalibrated BAM file", required = true) - private StingSAMFileWriter OUTPUT_BAM = null; - - /** - * TableRacalibration accepts a --preserve_qscores_less_than / -pQ flag that instructs TableRecalibration to not modify - * quality scores less than but rather just write them out unmodified in the recalibrated BAM file. This is useful - * because Solexa writes Q2 and Q3 bases when the machine has really gone wrong. This would be fine in and of itself, - * but when you select a subset of these reads based on their ability to align to the reference and their dinucleotide effect, - * your Q2 and Q3 bins can be elevated to Q8 or Q10, leading to issues downstream. With the default value of 5, all Q0-Q4 bases - * are unmodified during recalibration, so they don't get inappropriately evaluated. - */ - @Argument(fullName = "preserve_qscores_less_than", shortName = "pQ", doc = "Bases with quality scores less than this threshold won't be recalibrated. In general it's unsafe to change qualities scores below < 5, since base callers use these values to indicate random or bad bases", required = false) - private int PRESERVE_QSCORES_LESS_THAN = 5; - - /** - * By default TableRecalibration applies a Yates' correction to account for overfitting when it calculates the empirical - * quality score, in particular, ( # mismatches + 1 ) / ( # observations + 1 ). TableRecalibration accepts a --smoothing / -sm - * argument which sets how many unobserved counts to add to every bin. Use --smoothing 0 to turn off all smoothing or, for example, - * --smoothing 15 for a large amount of smoothing. - */ - @Argument(fullName = "smoothing", shortName = "sm", required = false, doc = "Number of imaginary counts to add to each bin in order to smooth out bins with few data points") - private int SMOOTHING = 1; - - /** - * Combinations of covariates in which there are zero mismatches technically have infinite quality. We get around this situation - * by capping at the specified value. We've found that Q40 is too low when using a more completely database of known variation like dbSNP build 132 or later. - */ - @Argument(fullName = "max_quality_score", shortName = "maxQ", required = false, doc = "The integer value at which to cap the quality scores") - private int MAX_QUALITY_SCORE = 50; - - /** - * By default TableRecalibration emits the OQ field -- so you can go back and look at the original quality scores, rerun - * the system using the OQ flags, etc, on the output BAM files; to turn off emission of the OQ field use this flag. - */ - @Argument(fullName = "doNotWriteOriginalQuals", shortName = "noOQs", required = false, doc = "If true, we will not write the original quality (OQ) tag for each read") - private boolean DO_NOT_WRITE_OQ = false; - - ///////////////////////////// - // Debugging-only Arguments - ///////////////////////////// - @Hidden - @Argument(fullName = "no_pg_tag", shortName = "noPG", required = false, doc = "Don't output the usual PG tag in the recalibrated bam file header. FOR DEBUGGING PURPOSES ONLY. This option is required in order to pass integration tests.") - private boolean NO_PG_TAG = false; - @Hidden - @Argument(fullName = "fail_with_no_eof_marker", shortName = "requireEOF", required = false, doc = "If no EOF marker is present in the covariates file, exit the program with an exception.") - private boolean REQUIRE_EOF = false; - @Hidden - @Argument(fullName = "skipUQUpdate", shortName = "skipUQUpdate", required = false, doc = "If true, we will skip the UQ updating step for each read, speeding up the calculations") - private boolean skipUQUpdate = false; - - ///////////////////////////// - // Private Member Variables - ///////////////////////////// - private RecalDataManager dataManager; // Holds the data HashMap, mostly used by TableRecalibrationWalker to create collapsed data hashmaps - private final ArrayList requestedCovariates = new ArrayList(); // List of covariates to be used in this calculation - public static final Pattern COMMENT_PATTERN = Pattern.compile("^#.*"); - public static final Pattern OLD_RECALIBRATOR_HEADER = Pattern.compile("^rg,.*"); - public static final Pattern COVARIATE_PATTERN = Pattern.compile("^ReadGroup,QualityScore,.*"); - public static final String EOF_MARKER = "EOF"; - private long numReadsWithMalformedColorSpace = 0; - - ///////////////////////////// - // Optimization - ///////////////////////////// - private NestedHashMap qualityScoreByFullCovariateKey = new NestedHashMap(); // Caches the result of performSequentialQualityCalculation(..) for all sets of covariate values. - - //--------------------------------------------------------------------------------------------------------------- - // - // initialize - // - //--------------------------------------------------------------------------------------------------------------- - - /** - * Read in the recalibration table input file. - * Parse the list of covariate classes used during CovariateCounterWalker. - * Parse the CSV data and populate the hashmap. - */ - public void initialize() { - - if (RAC.FORCE_PLATFORM != null) { - RAC.DEFAULT_PLATFORM = RAC.FORCE_PLATFORM; - } - - // Get a list of all available covariates - final List> classes = new PluginManager(Covariate.class).getPlugins(); - - int lineNumber = 0; - boolean foundAllCovariates = false; - - // Read in the data from the csv file and populate the data map and covariates list - logger.info("Reading in the data from input csv file..."); - - boolean sawEOF = false; - try { - for (String line : new XReadLines(RECAL_FILE)) { - lineNumber++; - if (EOF_MARKER.equals(line)) { - sawEOF = true; - } - else if (COMMENT_PATTERN.matcher(line).matches() || OLD_RECALIBRATOR_HEADER.matcher(line).matches()) { - ; // Skip over the comment lines, (which start with '#') - } - // Read in the covariates that were used from the input file - else if (COVARIATE_PATTERN.matcher(line).matches()) { // The line string is either specifying a covariate or is giving csv data - if (foundAllCovariates) { - throw new UserException.MalformedFile(RECAL_FILE, "Malformed input recalibration file. Found covariate names intermingled with data in file: " + RECAL_FILE); - } - else { // Found the covariate list in input file, loop through all of them and instantiate them - String[] vals = line.split(","); - for (int iii = 0; iii < vals.length - 3; iii++) { // There are n-3 covariates. The last three items are nObservations, nMismatch, and Qempirical - boolean foundClass = false; - for (Class covClass : classes) { - if ((vals[iii] + "Covariate").equalsIgnoreCase(covClass.getSimpleName())) { - foundClass = true; - try { - Covariate covariate = (Covariate) covClass.newInstance(); - requestedCovariates.add(covariate); - } catch (Exception e) { - throw new DynamicClassResolutionException(covClass, e); - } - - } - } - - if (!foundClass) { - throw new UserException.MalformedFile(RECAL_FILE, "Malformed input recalibration file. The requested covariate type (" + (vals[iii] + "Covariate") + ") isn't a valid covariate option."); - } - } - } - - } - else { // Found a line of data - if (!foundAllCovariates) { - foundAllCovariates = true; - - // At this point all the covariates should have been found and initialized - if (requestedCovariates.size() < 2) { - throw new UserException.MalformedFile(RECAL_FILE, "Malformed input recalibration csv file. Covariate names can't be found in file: " + RECAL_FILE); - } - - final boolean createCollapsedTables = true; - - // Initialize any covariate member variables using the shared argument collection - for (Covariate cov : requestedCovariates) { - cov.initialize(RAC); - } - // Initialize the data hashMaps - dataManager = new RecalDataManager(createCollapsedTables, requestedCovariates.size()); - - } - addCSVData(RECAL_FILE, line); // Parse the line and add the data to the HashMap - } - } - - } catch (FileNotFoundException e) { - throw new UserException.CouldNotReadInputFile(RECAL_FILE, "Can not find input file", e); - } catch (NumberFormatException e) { - throw new UserException.MalformedFile(RECAL_FILE, "Error parsing recalibration data at line " + lineNumber + ". Perhaps your table was generated by an older version of CovariateCounterWalker."); - } - logger.info("...done!"); - - if (!sawEOF) { - final String errorMessage = "No EOF marker was present in the recal covariates table; this could mean that the file is corrupted or was generated with an old version of the CountCovariates tool."; - if (REQUIRE_EOF) - throw new UserException.MalformedFile(RECAL_FILE, errorMessage); - logger.warn(errorMessage); - } - - logger.info("The covariates being used here: "); - for (Covariate cov : requestedCovariates) { - logger.info("\t" + cov.getClass().getSimpleName()); - } - - if (dataManager == null) { - throw new UserException.MalformedFile(RECAL_FILE, "Can't initialize the data manager. Perhaps the recal csv file contains no data?"); - } - - // Create the tables of empirical quality scores that will be used in the sequential calculation - logger.info("Generating tables of empirical qualities for use in sequential calculation..."); - dataManager.generateEmpiricalQualities(SMOOTHING, MAX_QUALITY_SCORE); - logger.info("...done!"); - - // Take the header of the input SAM file and tweak it by adding in a new programRecord with the version number and list of covariates that were used - final SAMFileHeader header = getToolkit().getSAMFileHeader().clone(); - if (!NO_PG_TAG) { - final SAMProgramRecord programRecord = new SAMProgramRecord(PROGRAM_RECORD_NAME); - final ResourceBundle headerInfo = TextFormattingUtils.loadResourceBundle("StingText"); - try { - final String version = headerInfo.getString("org.broadinstitute.sting.gatk.version"); - programRecord.setProgramVersion(version); - } catch (MissingResourceException e) { - } - - StringBuffer sb = new StringBuffer(); - sb.append(getToolkit().createApproximateCommandLineArgumentString(getToolkit(), this)); - sb.append(" Covariates=["); - for (Covariate cov : requestedCovariates) { - sb.append(cov.getClass().getSimpleName()); - sb.append(", "); - } - sb.setCharAt(sb.length() - 2, ']'); - sb.setCharAt(sb.length() - 1, ' '); - programRecord.setCommandLine(sb.toString()); - - List oldRecords = header.getProgramRecords(); - List newRecords = new ArrayList(oldRecords.size() + 1); - for (SAMProgramRecord record : oldRecords) { - if (!record.getId().startsWith(PROGRAM_RECORD_NAME)) - newRecords.add(record); - } - newRecords.add(programRecord); - header.setProgramRecords(newRecords); - - // Write out the new header - OUTPUT_BAM.writeHeader(header); - } - } - - /** - * For each covariate read in a value and parse it. Associate those values with the data itself (num observation and num mismatches) - * - * @param line A line of CSV data read from the recalibration table data file - */ - private void addCSVData(final File file, final String line) { - final String[] vals = line.split(","); - - // Check if the data line is malformed, for example if the read group string contains a comma then it won't be parsed correctly - if (vals.length != requestedCovariates.size() + 3) { // +3 because of nObservations, nMismatch, and Qempirical - throw new UserException.MalformedFile(file, "Malformed input recalibration file. Found data line with too many fields: " + line + - " --Perhaps the read group string contains a comma and isn't being parsed correctly."); - } - - final Object[] key = new Object[requestedCovariates.size()]; - Covariate cov; - int iii; - for (iii = 0; iii < requestedCovariates.size(); iii++) { - cov = requestedCovariates.get(iii); - key[iii] = cov.getValue(vals[iii]); - } - - // Create a new datum using the number of observations, number of mismatches, and reported quality score - final RecalDatum datum = new RecalDatum(Long.parseLong(vals[iii]), Long.parseLong(vals[iii + 1]), Double.parseDouble(vals[1]), 0.0); - // Add that datum to all the collapsed tables which will be used in the sequential calculation - dataManager.addToAllTables(key, datum, PRESERVE_QSCORES_LESS_THAN); - } - - //--------------------------------------------------------------------------------------------------------------- - // - // map - // - //--------------------------------------------------------------------------------------------------------------- - - /** - * For each base in the read calculate a new recalibrated quality score and replace the quality scores in the read - * - * @param refBases References bases over the length of the read - * @param read The read to be recalibrated - * @return The read with quality scores replaced - */ - public SAMRecord map(ReferenceContext refBases, GATKSAMRecord read, ReadMetaDataTracker metaDataTracker) { - - if (read.getReadLength() == 0) { // Some reads have '*' as the SEQ field and samtools returns length zero. We don't touch these reads. - return read; - } - - RecalDataManager.parseSAMRecord(read, RAC); - - byte[] originalQuals = read.getBaseQualities(); - final byte[] recalQuals = originalQuals.clone(); - - final String platform = read.getReadGroup().getPlatform(); - if (platform.toUpperCase().contains("SOLID") && !(RAC.SOLID_RECAL_MODE == RecalDataManager.SOLID_RECAL_MODE.DO_NOTHING)) { - if (!(RAC.SOLID_NOCALL_STRATEGY == RecalDataManager.SOLID_NOCALL_STRATEGY.THROW_EXCEPTION)) { - final boolean badColor = RecalDataManager.checkNoCallColorSpace(read); - if (badColor) { - numReadsWithMalformedColorSpace++; - if (RAC.SOLID_NOCALL_STRATEGY == RecalDataManager.SOLID_NOCALL_STRATEGY.LEAVE_READ_UNRECALIBRATED) { - return read; // can't recalibrate a SOLiD read with no calls in the color space, and the user wants to skip over them - } - else if (RAC.SOLID_NOCALL_STRATEGY == RecalDataManager.SOLID_NOCALL_STRATEGY.PURGE_READ) { - read.setReadFailsVendorQualityCheckFlag(true); - return read; - } - } - } - originalQuals = RecalDataManager.calcColorSpace(read, originalQuals, RAC.SOLID_RECAL_MODE, refBases == null ? null : refBases.getBases()); - } - - //compute all covariate values for this read - final Comparable[][] covariateValues_offset_x_covar = RecalDataManager.computeCovariates(read, requestedCovariates); - - // For each base in the read - for (int offset = 0; offset < read.getReadLength(); offset++) { - - final Object[] fullCovariateKey = covariateValues_offset_x_covar[offset]; - - Byte qualityScore = (Byte) qualityScoreByFullCovariateKey.get(fullCovariateKey); - if (qualityScore == null) { - qualityScore = performSequentialQualityCalculation(fullCovariateKey); - qualityScoreByFullCovariateKey.put(qualityScore, fullCovariateKey); - } - - recalQuals[offset] = qualityScore; - } - - preserveQScores(originalQuals, recalQuals); // Overwrite the work done if original quality score is too low - - read.setBaseQualities(recalQuals); // Overwrite old qualities with new recalibrated qualities - if (!DO_NOT_WRITE_OQ && read.getAttribute(RecalDataManager.ORIGINAL_QUAL_ATTRIBUTE_TAG) == null) { // Save the old qualities if the tag isn't already taken in the read - read.setAttribute(RecalDataManager.ORIGINAL_QUAL_ATTRIBUTE_TAG, SAMUtils.phredToFastq(originalQuals)); - } - - if (!skipUQUpdate && refBases != null && read.getAttribute(SAMTag.UQ.name()) != null) { - read.setAttribute(SAMTag.UQ.name(), SequenceUtil.sumQualitiesOfMismatches(read, refBases.getBases(), read.getAlignmentStart() - 1, false)); - } - - if (RAC.SOLID_RECAL_MODE == RecalDataManager.SOLID_RECAL_MODE.SET_Q_ZERO_BASE_N && refBases != null && read.getAttribute(SAMTag.NM.name()) != null) { - read.setAttribute(SAMTag.NM.name(), SequenceUtil.calculateSamNmTag(read, refBases.getBases(), read.getAlignmentStart() - 1, false)); - } - - return read; - } - - /** - * Implements a serial recalibration of the reads using the combinational table. - * First, we perform a positional recalibration, and then a subsequent dinuc correction. - * - * Given the full recalibration table, we perform the following preprocessing steps: - * - * - calculate the global quality score shift across all data [DeltaQ] - * - calculate for each of cycle and dinuc the shift of the quality scores relative to the global shift - * -- i.e., DeltaQ(dinuc) = Sum(pos) Sum(Qual) Qempirical(pos, qual, dinuc) - Qreported(pos, qual, dinuc) / Npos * Nqual - * - The final shift equation is: - * - * Qrecal = Qreported + DeltaQ + DeltaQ(pos) + DeltaQ(dinuc) + DeltaQ( ... any other covariate ... ) - * - * @param key The list of Comparables that were calculated from the covariates - * @return A recalibrated quality score as a byte - */ - private byte performSequentialQualityCalculation(final Object... key) { - - final byte qualFromRead = (byte) Integer.parseInt(key[1].toString()); - final Object[] readGroupCollapsedKey = new Object[1]; - final Object[] qualityScoreCollapsedKey = new Object[2]; - final Object[] covariateCollapsedKey = new Object[3]; - - // The global quality shift (over the read group only) - readGroupCollapsedKey[0] = key[0]; - final RecalDatum globalRecalDatum = ((RecalDatum) dataManager.getCollapsedTable(0).get(readGroupCollapsedKey)); - double globalDeltaQ = 0.0; - if (globalRecalDatum != null) { - final double globalDeltaQEmpirical = globalRecalDatum.getEmpiricalQuality(); - final double aggregrateQReported = globalRecalDatum.getEstimatedQReported(); - globalDeltaQ = globalDeltaQEmpirical - aggregrateQReported; - } - - // The shift in quality between reported and empirical - qualityScoreCollapsedKey[0] = key[0]; - qualityScoreCollapsedKey[1] = key[1]; - final RecalDatum qReportedRecalDatum = ((RecalDatum) dataManager.getCollapsedTable(1).get(qualityScoreCollapsedKey)); - double deltaQReported = 0.0; - if (qReportedRecalDatum != null) { - final double deltaQReportedEmpirical = qReportedRecalDatum.getEmpiricalQuality(); - deltaQReported = deltaQReportedEmpirical - qualFromRead - globalDeltaQ; - } - - // The shift in quality due to each covariate by itself in turn - double deltaQCovariates = 0.0; - double deltaQCovariateEmpirical; - covariateCollapsedKey[0] = key[0]; - covariateCollapsedKey[1] = key[1]; - for (int iii = 2; iii < key.length; iii++) { - covariateCollapsedKey[2] = key[iii]; // The given covariate - final RecalDatum covariateRecalDatum = ((RecalDatum) dataManager.getCollapsedTable(iii).get(covariateCollapsedKey)); - if (covariateRecalDatum != null) { - deltaQCovariateEmpirical = covariateRecalDatum.getEmpiricalQuality(); - deltaQCovariates += (deltaQCovariateEmpirical - qualFromRead - (globalDeltaQ + deltaQReported)); - } - } - - final double newQuality = qualFromRead + globalDeltaQ + deltaQReported + deltaQCovariates; - return QualityUtils.boundQual((int) Math.round(newQuality), (byte) MAX_QUALITY_SCORE); - - // Verbose printouts used to validate with old recalibrator - //if(key.contains(null)) { - // System.out.println( key + String.format(" => %d + %.2f + %.2f + %.2f + %.2f = %d", - // qualFromRead, globalDeltaQ, deltaQReported, deltaQPos, deltaQDinuc, newQualityByte)); - //} - //else { - // System.out.println( String.format("%s %s %s %s => %d + %.2f + %.2f + %.2f + %.2f = %d", - // key.get(0).toString(), key.get(3).toString(), key.get(2).toString(), key.get(1).toString(), qualFromRead, globalDeltaQ, deltaQReported, deltaQPos, deltaQDinuc, newQualityByte) ); - //} - - //return newQualityByte; - } - - /** - * Loop over the list of qualities and overwrite the newly recalibrated score to be the original score if it was less than some threshold - * - * @param originalQuals The list of original base quality scores - * @param recalQuals A list of the new recalibrated quality scores - */ - private void preserveQScores(final byte[] originalQuals, final byte[] recalQuals) { - for (int iii = 0; iii < recalQuals.length; iii++) { - if (originalQuals[iii] < PRESERVE_QSCORES_LESS_THAN) { - recalQuals[iii] = originalQuals[iii]; - } - } - } - - //--------------------------------------------------------------------------------------------------------------- - // - // reduce - // - //--------------------------------------------------------------------------------------------------------------- - - /** - * Start the reduce with a handle to the output bam file - * - * @return A FileWriter pointing to a new bam file - */ - public SAMFileWriter reduceInit() { - return OUTPUT_BAM; - } - - /** - * Output each read to disk - * - * @param read The read to output - * @param output The FileWriter to write the read to - * @return The FileWriter - */ - public SAMFileWriter reduce(SAMRecord read, SAMFileWriter output) { - if (output != null) { - output.addAlignment(read); - } - return output; - } - - /** - * Do nothing - * - * @param output The SAMFileWriter that outputs the bam file - */ - public void onTraversalDone(SAMFileWriter output) { - if (numReadsWithMalformedColorSpace != 0) { - if (RAC.SOLID_NOCALL_STRATEGY == RecalDataManager.SOLID_NOCALL_STRATEGY.LEAVE_READ_UNRECALIBRATED) { - Utils.warnUser("Discovered " + numReadsWithMalformedColorSpace + " SOLiD reads with no calls in the color space. Unfortunately these reads cannot be recalibrated with this recalibration algorithm " + - "because we use reference mismatch rate as the only indication of a base's true quality. These reads have had reference bases inserted as a way of correcting " + - "for color space misalignments and there is now no way of knowing how often it mismatches the reference and therefore no way to recalibrate the quality score. " + - "These reads remain in the output bam file but haven't been corrected for reference bias. !!! USE AT YOUR OWN RISK !!!"); - } - else if (RAC.SOLID_NOCALL_STRATEGY == RecalDataManager.SOLID_NOCALL_STRATEGY.PURGE_READ) { - Utils.warnUser("Discovered " + numReadsWithMalformedColorSpace + " SOLiD reads with no calls in the color space. Unfortunately these reads cannot be recalibrated with this recalibration algorithm " + - "because we use reference mismatch rate as the only indication of a base's true quality. These reads have had reference bases inserted as a way of correcting " + - "for color space misalignments and there is now no way of knowing how often it mismatches the reference and therefore no way to recalibrate the quality score. " + - "These reads were completely removed from the output bam file."); - - } - } - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/validation/GenotypeAndValidateWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/validation/GenotypeAndValidate.java similarity index 97% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/validation/GenotypeAndValidateWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/validation/GenotypeAndValidate.java index c985d26b9..3d008de43 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/validation/GenotypeAndValidateWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/validation/GenotypeAndValidate.java @@ -38,10 +38,10 @@ import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFUtils; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextBuilder; import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import java.util.Map; import java.util.Set; @@ -195,13 +195,13 @@ import static org.broadinstitute.sting.utils.IndelUtils.isInsideExtendedIndel; @Reference(window=@Window(start=-200,stop=200)) -public class GenotypeAndValidateWalker extends RodWalker implements TreeReducible { +public class GenotypeAndValidate extends RodWalker implements TreeReducible { /** * The optional output file that will have all the variants used in the Genotype and Validation essay. */ @Output(doc="Generate a VCF file with the variants considered by the walker, with a new annotation \"callStatus\" which will carry the value called in the validation VCF or BAM file", required=false) - protected VCFWriter vcfWriter = null; + protected VariantContextWriter vcfWriter = null; /** * The callset to be used as truth (default) or validated (if BAM file is set to truth). @@ -261,6 +261,7 @@ public class GenotypeAndValidateWalker extends RodWalker samples; public static class CountedData { private long nAltCalledAlt = 0L; @@ -307,7 +308,7 @@ public class GenotypeAndValidateWalker extends RodWalker header = VCFUtils.getVCFHeadersFromRodPrefix(getToolkit(), alleles.getName()); - Set samples = SampleUtils.getSampleList(header, VariantContextUtils.GenotypeMergeType.REQUIRE_UNIQUE); + samples = SampleUtils.getSampleList(header, VariantContextUtils.GenotypeMergeType.REQUIRE_UNIQUE); Set headerLines = VCFUtils.smartMergeHeaders(header.values(), logger); headerLines.add(new VCFHeaderLine("source", "GenotypeAndValidate")); vcfWriter.writeHeader(new VCFHeader(headerLines, samples)); @@ -365,7 +366,7 @@ public class GenotypeAndValidateWalker extends RodWalker 0 && context.getBasePileup().getBases().length < minDepth)) { + if (!context.hasReads() || (minDepth > 0 && context.getBasePileup().getBases().length < minDepth)) { counter.nUncovered = 1L; if (vcComp.getAttribute("GV").equals("T")) counter.nAltNotCalled = 1L; @@ -423,7 +424,7 @@ public class GenotypeAndValidateWalker extends RodWalker * */ -public class ValidationSiteSelectorWalker extends RodWalker { +public class ValidationSiteSelector extends RodWalker { public enum AF_COMPUTATION_MODE { KEEP_AF_SPECTRUM, @@ -116,7 +119,7 @@ public class ValidationSiteSelectorWalker extends RodWalker { * The output VCF file */ @Output(doc="File to which variants should be written",required=true) - protected VCFWriter vcfWriter = null; + protected VariantContextWriter vcfWriter = null; /** * Sample name(s) to subset the input VCF to, prior to selecting variants. -sn A -sn B subsets to samples A and B. diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalWalker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEval.java similarity index 96% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalWalker.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEval.java index a73bc2c70..1b5474777 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalWalker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEval.java @@ -12,12 +12,8 @@ import org.broadinstitute.sting.gatk.arguments.DbsnpArgumentCollection; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.Reference; -import org.broadinstitute.sting.gatk.walkers.RodWalker; -import org.broadinstitute.sting.gatk.walkers.TreeReducible; -import org.broadinstitute.sting.gatk.walkers.Window; +import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.gatk.walkers.varianteval.evaluators.VariantEvaluator; -import org.broadinstitute.sting.gatk.walkers.varianteval.stratifications.DynamicStratification; import org.broadinstitute.sting.gatk.walkers.varianteval.stratifications.IntervalStratification; import org.broadinstitute.sting.gatk.walkers.varianteval.stratifications.VariantStratifier; import org.broadinstitute.sting.gatk.walkers.varianteval.stratifications.manager.StratificationManager; @@ -91,7 +87,8 @@ import java.util.*; * */ @Reference(window=@Window(start=-50, stop=50)) -public class VariantEvalWalker extends RodWalker implements TreeReducible { +@PartitionBy(PartitionType.NONE) +public class VariantEval extends RodWalker implements TreeReducible { public static final String IS_SINGLETON_KEY = "ISSINGLETON"; @Output @@ -201,8 +198,9 @@ public class VariantEvalWalker extends RodWalker implements Tr // Variables private Set jexlExpressions = new TreeSet(); - private Set sampleNamesForEvaluation = new TreeSet(); - private Set sampleNamesForStratification = new TreeSet(); + private boolean isSubsettingSamples; + private Set sampleNamesForEvaluation = new LinkedHashSet(); + private Set sampleNamesForStratification = new LinkedHashSet(); // important stratifications private boolean byFilterIsEnabled = false; @@ -252,8 +250,10 @@ public class VariantEvalWalker extends RodWalker implements Tr Map vcfRods = VCFUtils.getVCFHeadersFromRods(getToolkit(), evals); Set vcfSamples = SampleUtils.getSampleList(vcfRods, VariantContextUtils.GenotypeMergeType.REQUIRE_UNIQUE); - // Load the sample list - sampleNamesForEvaluation.addAll(SampleUtils.getSamplesFromCommandLineInput(vcfSamples, SAMPLE_EXPRESSIONS)); + // Load the sample list, using an intermediate tree set to sort the samples + final Set allSampleNames = SampleUtils.getSamplesFromCommandLineInput(vcfSamples); + sampleNamesForEvaluation.addAll(new TreeSet(SampleUtils.getSamplesFromCommandLineInput(vcfSamples, SAMPLE_EXPRESSIONS))); + isSubsettingSamples = ! sampleNamesForEvaluation.containsAll(allSampleNames); if (Arrays.asList(STRATIFICATIONS_TO_USE).contains("Sample")) { sampleNamesForStratification.addAll(sampleNamesForEvaluation); @@ -558,8 +558,7 @@ public class VariantEvalWalker extends RodWalker implements Tr for ( final VariantEvaluator ve : nec.getVariantEvaluators() ) ve.finalizeEvaluation(); - final VariantEvalReportWriter writer = new VariantEvalReportWriter(stratManager, stratManager.getStratifiers(), stratManager.get(0).getVariantEvaluators()); - writer.writeReport(out); + VariantEvalReportWriter.writeReport(out, stratManager, stratManager.getStratifiers(), stratManager.get(0).getVariantEvaluators()); } // Accessors @@ -575,6 +574,7 @@ public class VariantEvalWalker extends RodWalker implements Tr public List> getEvals() { return evals; } + public boolean isSubsettingToSpecificSamples() { return isSubsettingSamples; } public Set getSampleNamesForEvaluation() { return sampleNamesForEvaluation; } public Set getSampleNamesForStratification() { return sampleNamesForStratification; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalReportWriter.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalReportWriter.java index 8887e3c4f..2a759f2f5 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalReportWriter.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalReportWriter.java @@ -50,23 +50,25 @@ import java.util.Map; * and supports writing out the data in these evaluators to a GATKReport. */ public class VariantEvalReportWriter { - private final GATKReport report; - private final StratificationManager stratManager; - public VariantEvalReportWriter(final StratificationManager stratManager, - final Collection stratifiers, - final Collection evaluators) { - this.stratManager = stratManager; - this.report = initializeGATKReport(stratifiers, evaluators); - } + protected VariantEvalReportWriter() {} // no public access /** * The business end of the class. Writes out the data in the provided stratManager * to the PrintStream out * - * @param out + * @param out the output stream + * @param stratManager the stratification manager + * @param stratifiers the stratifiers + * @param evaluators the evaluators */ - public final void writeReport(final PrintStream out) { + public static void writeReport(final PrintStream out, + final StratificationManager stratManager, + final Collection stratifiers, + final Collection evaluators) { + + final GATKReport report = initializeGATKReport(stratifiers, evaluators); + for ( int key = 0; key < stratManager.size(); key++ ) { final String stratStateString = stratManager.getStratsAndStatesStringForKey(key); final List> stratsAndStates = stratManager.getStratsAndStatesForKey(key); @@ -120,9 +122,10 @@ public class VariantEvalReportWriter { * @param primaryKey * @param stratsAndStates */ - private void setStratificationColumns(final GATKReportTable table, - final String primaryKey, - final List> stratsAndStates) { + private static void setStratificationColumns(final GATKReportTable table, + final String primaryKey, + final List> stratsAndStates) { + table.set(primaryKey, table.getTableName(), table.getTableName()); for ( final Pair stratAndState : stratsAndStates ) { final VariantStratifier vs = stratAndState.getFirst(); final String columnName = vs.getName(); @@ -148,34 +151,33 @@ public class VariantEvalReportWriter { * * @return an initialized report object */ - private GATKReport initializeGATKReport(final Collection stratifiers, - final Collection evaluators) { + private static GATKReport initializeGATKReport(final Collection stratifiers, + final Collection evaluators) { final GATKReport report = new GATKReport(); for (final VariantEvaluator ve : evaluators) { + final AnalysisModuleScanner scanner = new AnalysisModuleScanner(ve); + final Map datamap = scanner.getData(); + // create the table final String tableName = ve.getSimpleName(); final String tableDesc = ve.getClass().getAnnotation(Analysis.class).description(); - report.addTable(tableName, tableDesc, true); + report.addTable(tableName, tableDesc, 1 + stratifiers.size() + (scanner.hasMoltenField() ? 2 : datamap.size()), true); // grab the table, and add the columns we need to it final GATKReportTable table = report.getTable(tableName); - table.addPrimaryKey("entry", false); table.addColumn(tableName, tableName); // first create a column to hold each stratifier state for (final VariantStratifier vs : stratifiers) { final String columnName = vs.getName(); - table.addColumn(columnName, null, vs.getFormat()); + table.addColumn(columnName, vs.getFormat()); } - final AnalysisModuleScanner scanner = new AnalysisModuleScanner(ve); - final Map datamap = scanner.getData(); - if ( scanner.hasMoltenField() ) { // deal with molten data - table.addColumn(scanner.getMoltenAnnotation().variableName(), true, scanner.getMoltenAnnotation().variableFormat()); - table.addColumn(scanner.getMoltenAnnotation().valueName(), true, scanner.getMoltenAnnotation().valueFormat()); + table.addColumn(scanner.getMoltenAnnotation().variableName(), scanner.getMoltenAnnotation().variableFormat()); + table.addColumn(scanner.getMoltenAnnotation().valueName(), scanner.getMoltenAnnotation().valueFormat()); } else { if ( datamap.isEmpty() ) throw new ReviewedStingException("Datamap is empty for analysis " + scanner.getAnalysis()); @@ -187,7 +189,7 @@ public class VariantEvalReportWriter { // this is an atomic value, add a column for it final String format = datamap.get(field).format(); - table.addColumn(field.getName(), true, format); + table.addColumn(field.getName(), format); } catch (SecurityException e) { throw new StingException("SecurityException: " + e); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/GenotypeConcordance.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/GenotypeConcordance.java index 09315db73..15f791e9d 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/GenotypeConcordance.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/GenotypeConcordance.java @@ -8,6 +8,7 @@ import org.broadinstitute.sting.gatk.walkers.varianteval.util.Analysis; import org.broadinstitute.sting.gatk.walkers.varianteval.util.Molten; import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.variantcontext.Genotype; +import org.broadinstitute.sting.utils.variantcontext.GenotypeType; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.*; @@ -54,7 +55,7 @@ public class GenotypeConcordance extends VariantEvaluator { * Initialize this object */ public GenotypeConcordance() { - final int nGenotypeTypes = Genotype.Type.values().length; + final int nGenotypeTypes = GenotypeType.values().length; truthByCalledGenotypeCounts = new long[nGenotypeTypes][nGenotypeTypes]; } @@ -75,11 +76,11 @@ public class GenotypeConcordance extends VariantEvaluator { if (eval != null) { for (final Genotype g : eval.getGenotypes() ) { final String sample = g.getSampleName(); - final Genotype.Type called = g.getType(); - final Genotype.Type truth; + final GenotypeType called = g.getType(); + final GenotypeType truth; if (!validationIsValidVC || !validation.hasGenotype(sample)) { - truth = Genotype.Type.NO_CALL; + truth = GenotypeType.NO_CALL; } else { truth = validation.getGenotype(sample).getType(); } @@ -90,19 +91,19 @@ public class GenotypeConcordance extends VariantEvaluator { // otherwise, mark no-calls for all samples else { - final Genotype.Type called = Genotype.Type.NO_CALL; + final GenotypeType called = GenotypeType.NO_CALL; for (final Genotype g : validation.getGenotypes()) { - final Genotype.Type truth = g.getType(); + final GenotypeType truth = g.getType(); incrValue(truth, called); // print out interesting sites /* if ( PRINT_INTERESTING_SITES && super.getVEWalker().gcLog != null ) { - if ( (truth == Genotype.Type.HOM_VAR || truth == Genotype.Type.HET) && called == Genotype.Type.NO_CALL ) { + if ( (truth == GenotypeType.HOM_VAR || truth == GenotypeType.HET) && called == GenotypeType.NO_CALL ) { super.getVEWalker().gcLog.printf("%s FN %s%n", group, validation); } - if ( (called == Genotype.Type.HOM_VAR || called == Genotype.Type.HET) && truth == Genotype.Type.HOM_REF ) { + if ( (called == GenotypeType.HOM_VAR || called == GenotypeType.HET) && truth == GenotypeType.HOM_REF ) { super.getVEWalker().gcLog.printf("%s FP %s%n", group, validation); } } @@ -121,36 +122,36 @@ public class GenotypeConcordance extends VariantEvaluator { * @param truth the truth type * @param called the called type */ - private void incrValue(final Genotype.Type truth, final Genotype.Type called) { + private void incrValue(final GenotypeType truth, final GenotypeType called) { truthByCalledGenotypeCounts[truth.ordinal()][called.ordinal()]++; } - private long count(final Genotype.Type truth, final Genotype.Type called) { + private long count(final GenotypeType truth, final GenotypeType called) { return truthByCalledGenotypeCounts[truth.ordinal()][called.ordinal()]; } - private long count(final EnumSet truth, final Genotype.Type called) { + private long count(final EnumSet truth, final GenotypeType called) { return count(truth, EnumSet.of(called)); } - private long count(final Genotype.Type truth, final EnumSet called) { + private long count(final GenotypeType truth, final EnumSet called) { return count(EnumSet.of(truth), called); } - private long count(final EnumSet truth, final EnumSet called) { + private long count(final EnumSet truth, final EnumSet called) { long sum = 0; - for ( final Genotype.Type truth1 : truth ) { - for ( final Genotype.Type called1 : called ) { + for ( final GenotypeType truth1 : truth ) { + for ( final GenotypeType called1 : called ) { sum += count(truth1, called1); } } return sum; } - private long countDiag( final EnumSet d1 ) { + private long countDiag( final EnumSet d1 ) { long sum = 0; - for(final Genotype.Type e1 : d1 ) { + for(final GenotypeType e1 : d1 ) { sum += truthByCalledGenotypeCounts[e1.ordinal()][e1.ordinal()]; } @@ -159,13 +160,13 @@ public class GenotypeConcordance extends VariantEvaluator { @Override public void finalizeEvaluation() { - final EnumSet allVariantGenotypes = EnumSet.of(Genotype.Type.HOM_VAR, Genotype.Type.HET); - final EnumSet allCalledGenotypes = EnumSet.of(Genotype.Type.HOM_VAR, Genotype.Type.HET, Genotype.Type.HOM_REF); - final EnumSet allGenotypes = EnumSet.allOf(Genotype.Type.class); + final EnumSet allVariantGenotypes = EnumSet.of(GenotypeType.HOM_VAR, GenotypeType.HET); + final EnumSet allCalledGenotypes = EnumSet.of(GenotypeType.HOM_VAR, GenotypeType.HET, GenotypeType.HOM_REF); + final EnumSet allGenotypes = EnumSet.allOf(GenotypeType.class); // exact values of the table - for ( final Genotype.Type truth : Genotype.Type.values() ) { - for ( final Genotype.Type called : Genotype.Type.values() ) { + for ( final GenotypeType truth : GenotypeType.values() ) { + for ( final GenotypeType called : GenotypeType.values() ) { final String field = String.format("n_true_%s_called_%s", truth, called); final Long value = count(truth, called); map.put(field, value.toString()); @@ -173,20 +174,20 @@ public class GenotypeConcordance extends VariantEvaluator { } // counts of called genotypes - for ( final Genotype.Type called : Genotype.Type.values() ) { + for ( final GenotypeType called : GenotypeType.values() ) { final String field = String.format("total_called_%s", called); final Long value = count(allGenotypes, called); map.put(field, value.toString()); } // counts of true genotypes - for ( final Genotype.Type truth : Genotype.Type.values() ) { + for ( final GenotypeType truth : GenotypeType.values() ) { final String field = String.format("total_true_%s", truth); final Long value = count(truth, allGenotypes); map.put(field, value.toString()); } - for ( final Genotype.Type genotype : Genotype.Type.values() ) { + for ( final GenotypeType genotype : GenotypeType.values() ) { final String field = String.format("percent_%s_called_%s", genotype, genotype); long numer = count(genotype, genotype); long denom = count(EnumSet.of(genotype), allGenotypes); @@ -215,7 +216,7 @@ public class GenotypeConcordance extends VariantEvaluator { // overall genotype concordance of sites called non-ref in eval track // MAD: this is the non-reference discrepancy rate final String field = "percent_non_reference_discrepancy_rate"; - long homrefConcords = count(Genotype.Type.HOM_REF, Genotype.Type.HOM_REF); + long homrefConcords = count(GenotypeType.HOM_REF, GenotypeType.HOM_REF); long allNoHomRef = count(allCalledGenotypes, allCalledGenotypes) - homrefConcords; long numer = allNoHomRef - countDiag(allVariantGenotypes); long denom = count(allCalledGenotypes, allCalledGenotypes) - homrefConcords; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/MendelianViolationEvaluator.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/MendelianViolationEvaluator.java index ff3bf66f7..97a8b4dda 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/MendelianViolationEvaluator.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/MendelianViolationEvaluator.java @@ -4,7 +4,7 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.samples.Sample; -import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEvalWalker; +import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEval; import org.broadinstitute.sting.gatk.walkers.varianteval.util.Analysis; import org.broadinstitute.sting.gatk.walkers.varianteval.util.DataPoint; import org.broadinstitute.sting.utils.MendelianViolation; @@ -104,7 +104,7 @@ public class MendelianViolationEvaluator extends VariantEvaluator { MendelianViolation mv; Map> families; - public void initialize(VariantEvalWalker walker) { + public void initialize(VariantEval walker) { super.initialize(walker); mv = new MendelianViolation(walker.getMendelianViolationQualThreshold(),false); families = walker.getSampleDB().getFamilies(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/MultiallelicSummary.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/MultiallelicSummary.java index 7efb1d823..09c8687eb 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/MultiallelicSummary.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/MultiallelicSummary.java @@ -31,7 +31,6 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.varianteval.util.Analysis; import org.broadinstitute.sting.gatk.walkers.varianteval.util.DataPoint; import org.broadinstitute.sting.utils.Utils; -import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; @@ -113,7 +112,8 @@ public class MultiallelicSummary extends VariantEvaluator implements StandardEva } break; default: - throw new UserException.BadInput("Unexpected variant context type: " + eval); + //throw new UserException.BadInput("Unexpected variant context type: " + eval); + break; } return; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/ValidationReport.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/ValidationReport.java index bf457f5c0..a2bcdaf1d 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/ValidationReport.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/ValidationReport.java @@ -11,6 +11,7 @@ import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.Collection; +import java.util.Set; /** * The Broad Institute @@ -102,6 +103,10 @@ public class ValidationReport extends VariantEvaluator implements StandardEval { nDifferentAlleleSites++; else { SiteStatus evalStatus = calcSiteStatus(eval); + final Set evalSamples = getWalker().getSampleNamesForEvaluation(); + if ( comp.hasGenotypes() && ! evalSamples.isEmpty() && comp.hasGenotypes(evalSamples) ) + // if we have genotypes in both eval and comp, subset comp down just the samples in eval + comp = comp.subContextFromSamples(evalSamples, false); SiteStatus compStatus = calcSiteStatus(comp); counts[compStatus.ordinal()][evalStatus.ordinal()]++; } @@ -111,7 +116,7 @@ public class ValidationReport extends VariantEvaluator implements StandardEval { // // helper routines // - public SiteStatus calcSiteStatus(VariantContext vc) { + private SiteStatus calcSiteStatus(VariantContext vc) { if ( vc == null ) return SiteStatus.NO_CALL; if ( vc.isFiltered() ) return SiteStatus.FILTERED; if ( vc.isMonomorphicInSamples() ) return SiteStatus.MONO; @@ -121,24 +126,18 @@ public class ValidationReport extends VariantEvaluator implements StandardEval { int ac = 0; if ( vc.getNAlleles() > 2 ) { return SiteStatus.POLY; -//// System.out.printf("multiple alleles %s = %s%n", vc.getAlleles(), vc.getAttribute(VCFConstants.ALLELE_COUNT_KEY)); -// // todo -- omg this is painful. We need a better approach to dealing with multi-valued attributes -// for ( String v : (List)vc.getAttribute(VCFConstants.ALLELE_COUNT_KEY) ) -// ac += Integer.valueOf(v); -//// System.out.printf(" ac = %d%n", ac); } else ac = vc.getAttributeAsInt(VCFConstants.ALLELE_COUNT_KEY, 0); return ac > 0 ? SiteStatus.POLY : SiteStatus.MONO; } else { return TREAT_ALL_SITES_IN_EVAL_VCF_AS_CALLED ? SiteStatus.POLY : SiteStatus.NO_CALL; // we can't figure out what to do - //return SiteStatus.NO_CALL; // we can't figure out what to do } } - public boolean haveDifferentAltAlleles(VariantContext eval, VariantContext comp) { + private boolean haveDifferentAltAlleles(VariantContext eval, VariantContext comp) { Collection evalAlts = eval.getAlternateAlleles(); Collection compAlts = comp.getAlternateAlleles(); if ( evalAlts.size() != compAlts.size() ) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/VariantEvaluator.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/VariantEvaluator.java index df4c3e860..c08ff379b 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/VariantEvaluator.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/VariantEvaluator.java @@ -3,23 +3,23 @@ package org.broadinstitute.sting.gatk.walkers.varianteval.evaluators; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEvalWalker; +import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEval; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.variantcontext.VariantContext; public abstract class VariantEvaluator implements Comparable { - private VariantEvalWalker walker; + private VariantEval walker; private final String simpleName; protected VariantEvaluator() { this.simpleName = getClass().getSimpleName(); } - public void initialize(VariantEvalWalker walker) { + public void initialize(VariantEval walker) { this.walker = walker; } - public VariantEvalWalker getWalker() { + public VariantEval getWalker() { return walker; } @@ -57,7 +57,7 @@ public abstract class VariantEvaluator implements Comparable { * @return true if eval was originally a singleton site */ protected static boolean variantWasSingleton(final VariantContext eval) { - return eval.getAttributeAsBoolean(VariantEvalWalker.IS_SINGLETON_KEY, false); + return eval.getAttributeAsBoolean(VariantEval.IS_SINGLETON_KEY, false); } public final String getSimpleName() { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/VariantSummary.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/VariantSummary.java index 8766bb14e..71ea6af98 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/VariantSummary.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/evaluators/VariantSummary.java @@ -29,13 +29,12 @@ import org.apache.log4j.Logger; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEvalWalker; +import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEval; import org.broadinstitute.sting.gatk.walkers.varianteval.util.Analysis; import org.broadinstitute.sting.gatk.walkers.varianteval.util.DataPoint; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; -import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.interval.IntervalUtils; import org.broadinstitute.sting.utils.variantcontext.Genotype; import org.broadinstitute.sting.utils.variantcontext.VariantContext; @@ -151,7 +150,7 @@ public class VariantSummary extends VariantEvaluator implements StandardEval { } - public void initialize(VariantEvalWalker walker) { + public void initialize(VariantEval walker) { super.initialize(walker); nSamples = walker.getSampleNamesForEvaluation().size(); @@ -186,7 +185,8 @@ public class VariantSummary extends VariantEvaluator implements StandardEval { case SYMBOLIC: return Type.CNV; default: - throw new UserException.BadInput("Unexpected variant context type: " + vc); + //throw new UserException.BadInput("Unexpected variant context type: " + vc); + return null; } } @@ -211,6 +211,8 @@ public class VariantSummary extends VariantEvaluator implements StandardEval { return; final Type type = getType(eval); + if ( type == null ) + return; TypeSampleMap titvTable = null; @@ -239,7 +241,7 @@ public class VariantSummary extends VariantEvaluator implements StandardEval { // update transition / transversion ratio if ( titvTable != null ) titvTable.inc(type, g.getSampleName()); - if ( g.hasAttribute(VCFConstants.DEPTH_KEY) ) + if ( g.hasDP() ) depthPerSample.inc(type, g.getSampleName()); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleCount.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleCount.java index 7a3b85567..158f20b61 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleCount.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/AlleleCount.java @@ -1,10 +1,10 @@ package org.broadinstitute.sting.gatk.walkers.varianteval.stratifications; -import org.broadinstitute.sting.commandline.RodBinding; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.varianteval.evaluators.VariantEvaluator; import org.broadinstitute.sting.gatk.walkers.varianteval.evaluators.VariantSummary; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.VariantContext; @@ -14,8 +14,9 @@ import java.util.*; /** * Stratifies the eval RODs by the allele count of the alternate allele * - * Looks at the AC value in the INFO field, and uses that value if present. If absent, - * computes the AC from the genotypes themselves. For no AC can be computed, 0 is used. + * Looks first at the MLEAC value in the INFO field, and uses that value if present. + * If not present, it then looks for the AC value in the INFO field. If both are absent, + * it computes the AC from the genotypes themselves. If no AC can be computed, 0 is used. */ public class AlleleCount extends VariantStratifier { @Override @@ -41,8 +42,10 @@ public class AlleleCount extends VariantStratifier { if (eval != null) { int AC = 0; // by default, the site is considered monomorphic - if ( eval.hasAttribute("AC") && eval.getAttribute("AC") instanceof Integer ) { - AC = eval.getAttributeAsInt("AC", 0); + if ( eval.hasAttribute(VCFConstants.MLE_ALLELE_COUNT_KEY) && eval.isBiallelic() ) { + AC = eval.getAttributeAsInt(VCFConstants.MLE_ALLELE_COUNT_KEY, 0); + } else if ( eval.hasAttribute(VCFConstants.ALLELE_COUNT_KEY) && eval.isBiallelic() ) { + AC = eval.getAttributeAsInt(VCFConstants.ALLELE_COUNT_KEY, 0); } else if ( eval.isVariant() ) { for (Allele allele : eval.getAlternateAlleles()) AC = Math.max(AC, eval.getCalledChrCount(allele)); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/VariantStratifier.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/VariantStratifier.java index 07ba424a2..90b6230ca 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/VariantStratifier.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/stratifications/VariantStratifier.java @@ -2,7 +2,7 @@ package org.broadinstitute.sting.gatk.walkers.varianteval.stratifications; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEvalWalker; +import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEval; import org.broadinstitute.sting.gatk.walkers.varianteval.evaluators.VariantEvaluator; import org.broadinstitute.sting.gatk.walkers.varianteval.stratifications.manager.Stratifier; import org.broadinstitute.sting.utils.variantcontext.VariantContext; @@ -13,7 +13,7 @@ import java.util.List; import java.util.Set; public abstract class VariantStratifier implements Comparable, Stratifier { - private VariantEvalWalker variantEvalWalker; + private VariantEval variantEvalWalker; final private String name; final protected ArrayList states = new ArrayList(); @@ -40,7 +40,7 @@ public abstract class VariantStratifier implements Comparable /** * @return a reference to the parent VariantEvalWalker running this stratification */ - public final VariantEvalWalker getVariantEvalWalker() { + public final VariantEval getVariantEvalWalker() { return variantEvalWalker; } @@ -48,7 +48,7 @@ public abstract class VariantStratifier implements Comparable * Should only be called by VariantEvalWalker itself * @param variantEvalWalker */ - public final void setVariantEvalWalker(VariantEvalWalker variantEvalWalker) { + public final void setVariantEvalWalker(VariantEval variantEvalWalker) { this.variantEvalWalker = variantEvalWalker; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/util/EvaluationContext.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/util/EvaluationContext.java index 390682837..c98c05a9a 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/util/EvaluationContext.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/util/EvaluationContext.java @@ -3,27 +3,27 @@ package org.broadinstitute.sting.gatk.walkers.varianteval.util; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEvalWalker; +import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEval; import org.broadinstitute.sting.gatk.walkers.varianteval.evaluators.VariantEvaluator; -import org.broadinstitute.sting.gatk.walkers.varianteval.stratifications.VariantStratifier; import org.broadinstitute.sting.gatk.walkers.varianteval.stratifications.manager.StratificationManager; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; -import org.broadinstitute.sting.utils.exceptions.StingException; import org.broadinstitute.sting.utils.variantcontext.VariantContext; -import java.util.*; +import java.util.ArrayList; +import java.util.Set; +import java.util.TreeSet; public final class EvaluationContext { // NOTE: must be hashset to avoid O(log n) cost of iteration in the very frequently called apply function - final VariantEvalWalker walker; + final VariantEval walker; private final ArrayList evaluationInstances; private final Set> evaluationClasses; - public EvaluationContext(final VariantEvalWalker walker, final Set> evaluationClasses) { + public EvaluationContext(final VariantEval walker, final Set> evaluationClasses) { this(walker, evaluationClasses, true); } - private EvaluationContext(final VariantEvalWalker walker, final Set> evaluationClasses, final boolean doInitialize) { + private EvaluationContext(final VariantEval walker, final Set> evaluationClasses, final boolean doInitialize) { this.walker = walker; this.evaluationClasses = evaluationClasses; this.evaluationInstances = new ArrayList(evaluationClasses.size()); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/util/VariantEvalUtils.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/util/VariantEvalUtils.java index 8a62bd032..3dcc1f85f 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/util/VariantEvalUtils.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/util/VariantEvalUtils.java @@ -28,29 +28,27 @@ import org.apache.log4j.Logger; import org.broadinstitute.sting.commandline.RodBinding; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.report.GATKReport; -import org.broadinstitute.sting.gatk.report.GATKReportTable; -import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEvalWalker; +import org.broadinstitute.sting.gatk.walkers.varianteval.VariantEval; import org.broadinstitute.sting.gatk.walkers.varianteval.evaluators.StandardEval; import org.broadinstitute.sting.gatk.walkers.varianteval.evaluators.VariantEvaluator; import org.broadinstitute.sting.gatk.walkers.varianteval.stratifications.RequiredStratification; import org.broadinstitute.sting.gatk.walkers.varianteval.stratifications.StandardStratification; import org.broadinstitute.sting.gatk.walkers.varianteval.stratifications.VariantStratifier; import org.broadinstitute.sting.utils.classloader.PluginManager; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.exceptions.StingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextBuilder; import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; -import java.lang.reflect.Field; import java.util.*; public class VariantEvalUtils { - private final VariantEvalWalker variantEvalWalker; + private final VariantEval variantEvalWalker; Logger logger; - public VariantEvalUtils(VariantEvalWalker variantEvalWalker) { + public VariantEvalUtils(VariantEval variantEvalWalker) { this.variantEvalWalker = variantEvalWalker; this.logger = variantEvalWalker.getLogger(); } @@ -199,18 +197,32 @@ public class VariantEvalUtils { * @return a new VariantContext with just the requested samples */ public VariantContext getSubsetOfVariantContext(VariantContext vc, Set sampleNames) { - VariantContext vcsub = vc.subContextFromSamples(sampleNames, vc.getAlleles()); - VariantContextBuilder builder = new VariantContextBuilder(vcsub); + return ensureAnnotations(vc, vc.subContextFromSamples(sampleNames, false)); + } + public VariantContext ensureAnnotations(final VariantContext vc, final VariantContext vcsub) { final int originalAlleleCount = vc.getHetCount() + 2 * vc.getHomVarCount(); final int newAlleleCount = vcsub.getHetCount() + 2 * vcsub.getHomVarCount(); + final boolean isSingleton = originalAlleleCount == newAlleleCount && newAlleleCount == 1; + final boolean hasChrCountAnnotations = vcsub.hasAttribute(VCFConstants.ALLELE_COUNT_KEY) && + vcsub.hasAttribute(VCFConstants.ALLELE_FREQUENCY_KEY) && + vcsub.hasAttribute(VCFConstants.ALLELE_NUMBER_KEY); - if (originalAlleleCount == newAlleleCount && newAlleleCount == 1) { - builder.attribute(VariantEvalWalker.IS_SINGLETON_KEY, true); + if ( ! isSingleton && hasChrCountAnnotations ) { + // nothing to update + return vcsub; + } else { + // have to do the work + VariantContextBuilder builder = new VariantContextBuilder(vcsub); + + if ( isSingleton ) + builder.attribute(VariantEval.IS_SINGLETON_KEY, true); + + if ( ! hasChrCountAnnotations ) + VariantContextUtils.calculateChromosomeCounts(builder, true); + + return builder.make(); } - - VariantContextUtils.calculateChromosomeCounts(builder, true); - return builder.make(); } /** @@ -250,12 +262,15 @@ public class VariantEvalUtils { // First, filter the VariantContext to represent only the samples for evaluation VariantContext vcsub = vc; - if (subsetBySample && vc.hasGenotypes() && vc.hasGenotypes(variantEvalWalker.getSampleNamesForEvaluation())) { - vcsub = getSubsetOfVariantContext(vc, variantEvalWalker.getSampleNamesForEvaluation()); + if (subsetBySample && vc.hasGenotypes()) { + if ( variantEvalWalker.isSubsettingToSpecificSamples() ) + vcsub = getSubsetOfVariantContext(vc, variantEvalWalker.getSampleNamesForEvaluation()); + else + vcsub = ensureAnnotations(vc, vc); } if ((byFilter || !vcsub.isFiltered())) { - addMapping(mapping, VariantEvalWalker.getAllSampleName(), vcsub); + addMapping(mapping, VariantEval.getAllSampleName(), vcsub); } // Now, if stratifying, split the subsetted vc per sample and add each as a new context diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/ApplyRecalibration.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/ApplyRecalibration.java index 5b1d69f14..0dfdd4ba1 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/ApplyRecalibration.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/ApplyRecalibration.java @@ -38,6 +38,7 @@ import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.gatk.walkers.TreeReducible; import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextBuilder; @@ -104,7 +105,7 @@ public class ApplyRecalibration extends RodWalker implements T // Outputs ///////////////////////////// @Output( doc="The output filtered and recalibrated VCF file in which each variant is annotated with its VQSLOD value", required=true) - private VCFWriter vcfWriter = null; + private VariantContextWriter vcfWriter = null; ///////////////////////////// // Command Line Arguments @@ -149,19 +150,18 @@ public class ApplyRecalibration extends RodWalker implements T // setup the header fields final Set hInfo = new HashSet(); hInfo.addAll(VCFUtils.getHeaderFields(getToolkit(), inputNames)); - hInfo.add(new VCFInfoHeaderLine(VariantRecalibrator.VQS_LOD_KEY, 1, VCFHeaderLineType.Float, "Log odds ratio of being a true variant versus being false under the trained gaussian mixture model")); - hInfo.add(new VCFInfoHeaderLine(VariantRecalibrator.CULPRIT_KEY, 1, VCFHeaderLineType.String, "The annotation which was the worst performing in the Gaussian mixture model, likely the reason why the variant was filtered out")); + addVQSRStandardHeaderLines(hInfo); final TreeSet samples = new TreeSet(); samples.addAll(SampleUtils.getUniqueSamplesFromRods(getToolkit(), inputNames)); if( tranches.size() >= 2 ) { for( int iii = 0; iii < tranches.size() - 1; iii++ ) { final Tranche t = tranches.get(iii); - hInfo.add(new VCFFilterHeaderLine(t.name, String.format("Truth sensitivity tranche level at VSQ Lod: " + t.minVQSLod + " <= x < " + tranches.get(iii+1).minVQSLod))); + hInfo.add(new VCFFilterHeaderLine(t.name, String.format("Truth sensitivity tranche level for " + t.model.toString() + " model at VQS Lod: " + t.minVQSLod + " <= x < " + tranches.get(iii+1).minVQSLod))); } } if( tranches.size() >= 1 ) { - hInfo.add(new VCFFilterHeaderLine(tranches.get(0).name + "+", String.format("Truth sensitivity tranche level at VQS Lod < " + tranches.get(0).minVQSLod))); + hInfo.add(new VCFFilterHeaderLine(tranches.get(0).name + "+", String.format("Truth sensitivity tranche level for " + tranches.get(0).model.toString() + " model at VQS Lod < " + tranches.get(0).minVQSLod))); } else { throw new UserException("No tranches were found in the file or were above the truth sensitivity filter level " + TS_FILTER_LEVEL); } @@ -172,6 +172,12 @@ public class ApplyRecalibration extends RodWalker implements T vcfWriter.writeHeader(vcfHeader); } + public static void addVQSRStandardHeaderLines(final Set hInfo) { + hInfo.add(VCFStandardHeaderLines.getInfoLine(VCFConstants.END_KEY)); + hInfo.add(new VCFInfoHeaderLine(VariantRecalibrator.VQS_LOD_KEY, 1, VCFHeaderLineType.Float, "Log odds ratio of being a true variant versus being false under the trained gaussian mixture model")); + hInfo.add(new VCFInfoHeaderLine(VariantRecalibrator.CULPRIT_KEY, 1, VCFHeaderLineType.String, "The annotation which was the worst performing in the Gaussian mixture model, likely the reason why the variant was filtered out")); + } + //--------------------------------------------------------------------------------------------------------------- // // map @@ -230,7 +236,9 @@ public class ApplyRecalibration extends RodWalker implements T filterString = tranches.get(0).name+"+"; } - if( !filterString.equals(VCFConstants.PASSES_FILTERS_v4) ) { + if( filterString.equals(VCFConstants.PASSES_FILTERS_v4) ) { + builder.passFilters(); + } else { builder.filters(filterString); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/Tranche.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/Tranche.java index 15424f0f7..9228dc375 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/Tranche.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/Tranche.java @@ -42,26 +42,28 @@ import java.util.*; */ public class Tranche implements Comparable { - private static final int CURRENT_VERSION = 4; + private static final int CURRENT_VERSION = 5; public double ts, minVQSLod, knownTiTv, novelTiTv; public int numKnown,numNovel; public String name; + public VariantRecalibratorArgumentCollection.Mode model; int accessibleTruthSites = 0; int callsAtTruthSites = 0; - public Tranche(double ts, double minVQSLod, int numKnown, double knownTiTv, int numNovel, double novelTiTv, int accessibleTruthSites, int callsAtTruthSites) { - this(ts, minVQSLod, numKnown, knownTiTv, numNovel, novelTiTv, accessibleTruthSites, callsAtTruthSites, "anonymous"); + public Tranche(double ts, double minVQSLod, int numKnown, double knownTiTv, int numNovel, double novelTiTv, int accessibleTruthSites, int callsAtTruthSites, VariantRecalibratorArgumentCollection.Mode model) { + this(ts, minVQSLod, numKnown, knownTiTv, numNovel, novelTiTv, accessibleTruthSites, callsAtTruthSites, model, "anonymous"); } - public Tranche(double ts, double minVQSLod, int numKnown, double knownTiTv, int numNovel, double novelTiTv, int accessibleTruthSites, int callsAtTruthSites, String name ) { + public Tranche(double ts, double minVQSLod, int numKnown, double knownTiTv, int numNovel, double novelTiTv, int accessibleTruthSites, int callsAtTruthSites, VariantRecalibratorArgumentCollection.Mode model, String name ) { this.ts = ts; this.minVQSLod = minVQSLod; this.novelTiTv = novelTiTv; this.numNovel = numNovel; this.knownTiTv = knownTiTv; this.numKnown = numKnown; + this.model = model; this.name = name; this.accessibleTruthSites = accessibleTruthSites; @@ -104,13 +106,13 @@ public class Tranche implements Comparable { stream.println("# Variant quality score tranches file"); stream.println("# Version number " + CURRENT_VERSION); - stream.println("targetTruthSensitivity,numKnown,numNovel,knownTiTv,novelTiTv,minVQSLod,filterName,accessibleTruthSites,callsAtTruthSites,truthSensitivity"); + stream.println("targetTruthSensitivity,numKnown,numNovel,knownTiTv,novelTiTv,minVQSLod,filterName,model,accessibleTruthSites,callsAtTruthSites,truthSensitivity"); Tranche prev = null; for ( Tranche t : tranches ) { - stream.printf("%.2f,%d,%d,%.4f,%.4f,%.4f,TruthSensitivityTranche%.2fto%.2f,%d,%d,%.4f%n", - t.ts, t.numKnown, t.numNovel, t.knownTiTv, t.novelTiTv, t.minVQSLod, - (prev == null ? 0.0 : prev.ts), t.ts, t.accessibleTruthSites, t.callsAtTruthSites, t.getTruthSensitivity()); + stream.printf("%.2f,%d,%d,%.4f,%.4f,%.4f,VQSRTranche%s%.2fto%.2f,%s,%d,%d,%.4f%n", + t.ts, t.numKnown, t.numNovel, t.knownTiTv, t.novelTiTv, t.minVQSLod, t.model.toString(), + (prev == null ? 0.0 : prev.ts), t.ts, t.model.toString(), t.accessibleTruthSites, t.callsAtTruthSites, t.getTruthSensitivity()); prev = t; } @@ -157,11 +159,11 @@ public class Tranche implements Comparable { final String[] vals = line.split(","); if( header == null ) { header = vals; - if ( header.length == 5 || header.length == 8 || header.length == 11 ) + if ( header.length == 5 || header.length == 8 || header.length == 10 ) // old style tranches file, throw an error - throw new UserException.MalformedFile(f, "Unfortunately, your tranches file is from a previous version of this tool and cannot be used with the latest code. Please rerun VariantRecalibrator"); - if ( header.length != 10 ) - throw new UserException.MalformedFile(f, "Expected 10 elements in header line " + line); + throw new UserException.MalformedFile(f, "Unfortunately your tranches file is from a previous version of this tool and cannot be used with the latest code. Please rerun VariantRecalibrator"); + if ( header.length != 11 ) + throw new UserException.MalformedFile(f, "Expected 11 elements in header line " + line); } else { if ( header.length != vals.length ) throw new UserException.MalformedFile(f, "Line had too few/many fields. Header = " + header.length + " vals " + vals.length + ". The line was: " + line); @@ -176,6 +178,7 @@ public class Tranche implements Comparable { getDouble(bindings,"novelTiTv", true), getInteger(bindings,"accessibleTruthSites", false), getInteger(bindings,"callsAtTruthSites", false), + VariantRecalibratorArgumentCollection.parseString(bindings.get("model")), bindings.get("filterName"))); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/TrancheManager.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/TrancheManager.java index 19c6d501b..d45739528 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/TrancheManager.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/TrancheManager.java @@ -139,11 +139,11 @@ public class TrancheManager { } } - public static List findTranches( ArrayList data, final double[] tranches, SelectionMetric metric ) { - return findTranches( data, tranches, metric, null ); + public static List findTranches( final ArrayList data, final double[] tranches, final SelectionMetric metric, final VariantRecalibratorArgumentCollection.Mode model ) { + return findTranches( data, tranches, metric, model, null ); } - public static List findTranches( ArrayList data, final double[] trancheThresholds, SelectionMetric metric, File debugFile ) { + public static List findTranches( final ArrayList data, final double[] trancheThresholds, final SelectionMetric metric, final VariantRecalibratorArgumentCollection.Mode model, final File debugFile ) { logger.info(String.format("Finding %d tranches for %d variants", trancheThresholds.length, data.size())); Collections.sort(data); @@ -153,7 +153,7 @@ public class TrancheManager { List tranches = new ArrayList(); for ( double trancheThreshold : trancheThresholds ) { - Tranche t = findTranche(data, metric, trancheThreshold); + Tranche t = findTranche(data, metric, trancheThreshold, model); if ( t == null ) { if ( tranches.size() == 0 ) @@ -182,7 +182,7 @@ public class TrancheManager { } } - public static Tranche findTranche( final List data, final SelectionMetric metric, final double trancheThreshold ) { + public static Tranche findTranche( final List data, final SelectionMetric metric, final double trancheThreshold, final VariantRecalibratorArgumentCollection.Mode model ) { logger.info(String.format(" Tranche threshold %.2f => selection metric threshold %.3f", trancheThreshold, metric.getThreshold(trancheThreshold))); double metricThreshold = metric.getThreshold(trancheThreshold); @@ -190,7 +190,7 @@ public class TrancheManager { for ( int i = 0; i < n; i++ ) { if ( metric.getRunningMetric(i) >= metricThreshold ) { // we've found the largest group of variants with sensitivity >= our target truth sensitivity - Tranche t = trancheOfVariants(data, i, trancheThreshold); + Tranche t = trancheOfVariants(data, i, trancheThreshold, model); logger.info(String.format(" Found tranche for %.3f: %.3f threshold starting with variant %d; running score is %.3f ", trancheThreshold, metricThreshold, i, metric.getRunningMetric(i))); logger.info(String.format(" Tranche is %s", t)); @@ -201,7 +201,7 @@ public class TrancheManager { return null; } - public static Tranche trancheOfVariants( final List data, int minI, double ts ) { + public static Tranche trancheOfVariants( final List data, int minI, double ts, final VariantRecalibratorArgumentCollection.Mode model ) { int numKnown = 0, numNovel = 0, knownTi = 0, knownTv = 0, novelTi = 0, novelTv = 0; double minLod = data.get(minI).lod; @@ -228,7 +228,7 @@ public class TrancheManager { int accessibleTruthSites = countCallsAtTruth(data, Double.NEGATIVE_INFINITY); int nCallsAtTruth = countCallsAtTruth(data, minLod); - return new Tranche(ts, minLod, numKnown, knownTiTv, numNovel, novelTiTv, accessibleTruthSites, nCallsAtTruth); + return new Tranche(ts, minLod, numKnown, knownTiTv, numNovel, novelTiTv, accessibleTruthSites, nCallsAtTruth, model); } public static double fdrToTiTv(double desiredFDR, double targetTiTv) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantDataManager.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantDataManager.java index 3778cffb8..d6df4ff1b 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantDataManager.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantDataManager.java @@ -31,8 +31,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import org.broadinstitute.sting.utils.collections.ExpandingArrayList; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.Allele; @@ -279,7 +278,7 @@ public class VariantDataManager { (TRUST_ALL_POLYMORPHIC || !trainVC.hasGenotypes() || trainVC.isPolymorphicInSamples()); } - public void writeOutRecalibrationTable( final VCFWriter recalWriter ) { + public void writeOutRecalibrationTable( final VariantContextWriter recalWriter ) { // we need to sort in coordinate order in order to produce a valid VCF Collections.sort( data, new Comparator() { public int compare(VariantDatum vd1, VariantDatum vd2) { @@ -299,7 +298,7 @@ public class VariantDataManager { attributes.put(VariantRecalibrator.VQS_LOD_KEY, String.format("%.4f", datum.lod)); attributes.put(VariantRecalibrator.CULPRIT_KEY, (datum.worstAnnotation != -1 ? annotationKeys.get(datum.worstAnnotation) : "NULL")); - VariantContextBuilder builder = new VariantContextBuilder("VQSR", datum.loc.getContig(), datum.loc.getStart(), datum.loc.getStart(), alleles).attributes(attributes); + VariantContextBuilder builder = new VariantContextBuilder("VQSR", datum.loc.getContig(), datum.loc.getStart(), datum.loc.getStop(), alleles).attributes(attributes); recalWriter.add(builder.make()); } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java index f86908dbe..244c5d109 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java @@ -37,13 +37,16 @@ import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.R.RScriptExecutor; import org.broadinstitute.sting.utils.Utils; -import org.broadinstitute.sting.utils.codecs.vcf.StandardVCFWriter; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; import org.broadinstitute.sting.utils.collections.ExpandingArrayList; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.io.Resource; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriterFactory; import java.io.File; import java.io.FileNotFoundException; @@ -138,8 +141,7 @@ public class VariantRecalibrator extends RodWalkeremptySet() ); - recalWriter = new StandardVCFWriter(recalFile, getMasterSequenceDictionary(), false); - recalWriter.writeHeader(vcfHeader); + + final Set hInfo = new HashSet(); + ApplyRecalibration.addVQSRStandardHeaderLines(hInfo); + recalWriter.writeHeader( new VCFHeader(hInfo) ); } //--------------------------------------------------------------------------------------------------------------- @@ -339,7 +342,7 @@ public class VariantRecalibrator extends RodWalker tranches = TrancheManager.findTranches( dataManager.getData(), TS_TRANCHES, metric ); + final List tranches = TrancheManager.findTranches( dataManager.getData(), TS_TRANCHES, metric, VRAC.MODE ); tranchesStream.print(Tranche.tranchesString( tranches )); // Find the filtering lodCutoff for display on the model PDFs. Red variants are those which were below the cutoff and filtered out of the final callset. @@ -460,7 +463,7 @@ public class VariantRecalibrator extends RodWalker { public List> variants; @Output(doc="File to which variants should be written",required=true) - protected VCFWriter vcfWriter = null; + protected VariantContextWriter vcfWriter = null; @Argument(shortName="genotypeMergeOptions", doc="Determines how we should merge genotype records for samples shared across the ROD files", required=false) public VariantContextUtils.GenotypeMergeType genotypeMergeOption = VariantContextUtils.GenotypeMergeType.PRIORITIZE; @@ -163,7 +166,6 @@ public class CombineVariants extends RodWalker { @Argument(fullName="suppressCommandLineHeader", shortName="suppressCommandLineHeader", doc="If true, do not output the header containing the command line used", required=false) public boolean SUPPRESS_COMMAND_LINE_HEADER = false; - @Hidden @Argument(fullName="mergeInfoWithMaxAC", shortName="mergeInfoWithMaxAC", doc="If true, when VCF records overlap the info field is taken from the one with the max AC instead of only taking the fields which are identical across the overlapping records.", required=false) public boolean MERGE_INFO_WITH_MAX_AC = false; @@ -171,17 +173,24 @@ public class CombineVariants extends RodWalker { /** Optimization to strip out genotypes before merging if we are doing a sites_only output */ private boolean sitesOnlyVCF = false; + private Set samples; public void initialize() { Map vcfRods = VCFUtils.getVCFHeadersFromRods(getToolkit()); + if ( vcfWriter instanceof VariantContextWriterStub) { + sitesOnlyVCF = ((VariantContextWriterStub)vcfWriter).getWriterOptions().contains(Options.DO_NOT_WRITE_GENOTYPES); + if ( sitesOnlyVCF ) logger.info("Pre-stripping genotypes for performance"); + } else + logger.warn("VCF output file not an instance of VCFWriterStub; cannot enable sites only output option"); + if ( PRIORITY_STRING == null ) { PRIORITY_STRING = Utils.join(",", vcfRods.keySet()); logger.info("Priority string not provided, using arbitrary genotyping order: " + PRIORITY_STRING); } validateAnnotateUnionArguments(); - Set samples = SampleUtils.getSampleList(vcfRods, genotypeMergeOption); + samples = sitesOnlyVCF ? Collections.emptySet() : SampleUtils.getSampleList(vcfRods, genotypeMergeOption); if ( SET_KEY.toLowerCase().equals("null") ) SET_KEY = null; @@ -189,15 +198,11 @@ public class CombineVariants extends RodWalker { Set headerLines = VCFUtils.smartMergeHeaders(vcfRods.values(), logger); if ( SET_KEY != null ) headerLines.add(new VCFInfoHeaderLine(SET_KEY, 1, VCFHeaderLineType.String, "Source VCF for the merged record in CombineVariants")); - VCFHeader vcfHeader = new VCFHeader(headerLines, sitesOnlyVCF ? Collections.emptySet() : samples); + if ( !ASSUME_IDENTICAL_SAMPLES ) + headerLines.addAll(Arrays.asList(ChromosomeCounts.descriptions)); + VCFHeader vcfHeader = new VCFHeader(headerLines, samples); vcfHeader.setWriteCommandLine(!SUPPRESS_COMMAND_LINE_HEADER); vcfWriter.writeHeader(vcfHeader); - - if ( vcfWriter instanceof VCFWriterStub) { - sitesOnlyVCF = ((VCFWriterStub)vcfWriter).doNotWriteGenotypes(); - if ( sitesOnlyVCF ) logger.info("Pre-stripping genotypes for performance"); - } else - logger.warn("VCF output file not an instance of VCFWriterStub; cannot enable sites only output option"); } private void validateAnnotateUnionArguments() { @@ -291,7 +296,7 @@ public class CombineVariants extends RodWalker { VariantContextUtils.calculateChromosomeCounts(builder, false); if ( minimalVCF ) VariantContextUtils.pruneVariantContext(builder, Arrays.asList(SET_KEY)); - vcfWriter.add(builder.make()); + vcfWriter.add(VariantContextUtils.addMissingSamples(builder.make(), samples)); } return vcs.isEmpty() ? 0 : 1; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/FilterLiftedVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/FilterLiftedVariants.java index 4c2222f3a..43816b0fa 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/FilterLiftedVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/FilterLiftedVariants.java @@ -34,7 +34,7 @@ import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.codecs.vcf.VCFUtils; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.Arrays; @@ -54,7 +54,7 @@ public class FilterLiftedVariants extends RodWalker { private static final int MAX_VARIANT_SIZE = 100; @Output(doc="File to which variants should be written",required=true) - protected VCFWriter writer = null; + protected VariantContextWriter writer = null; private long failedLocs = 0, totalLocs = 0; @@ -63,7 +63,7 @@ public class FilterLiftedVariants extends RodWalker { Set samples = SampleUtils.getSampleListWithVCFHeader(getToolkit(), Arrays.asList(trackName)); Map vcfHeaders = VCFUtils.getVCFHeadersFromRods(getToolkit(), Arrays.asList(trackName)); - final VCFHeader vcfHeader = new VCFHeader(vcfHeaders.containsKey(trackName) ? vcfHeaders.get(trackName).getMetaData() : null, samples); + final VCFHeader vcfHeader = new VCFHeader(vcfHeaders.containsKey(trackName) ? vcfHeaders.get(trackName).getMetaDataInSortedOrder() : null, samples); writer.writeHeader(vcfHeader); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariants.java index edbfb557a..c1755aa00 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariants.java @@ -34,11 +34,17 @@ import org.broadinstitute.sting.gatk.arguments.StandardVariantContextInputArgume import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.*; +import org.broadinstitute.sting.gatk.walkers.Reference; +import org.broadinstitute.sting.gatk.walkers.RodWalker; +import org.broadinstitute.sting.gatk.walkers.Window; import org.broadinstitute.sting.utils.SampleUtils; -import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFUtils; import org.broadinstitute.sting.utils.sam.AlignmentUtils; import org.broadinstitute.sting.utils.variantcontext.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriterFactory; import java.util.*; @@ -77,19 +83,19 @@ public class LeftAlignVariants extends RodWalker { protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); @Output(doc="File to which variants should be written",required=true) - protected VCFWriter baseWriter = null; + protected VariantContextWriter baseWriter = null; - private SortingVCFWriter writer; + private VariantContextWriter writer; public void initialize() { String trackName = variantCollection.variants.getName(); Set samples = SampleUtils.getSampleListWithVCFHeader(getToolkit(), Arrays.asList(trackName)); Map vcfHeaders = VCFUtils.getVCFHeadersFromRods(getToolkit(), Arrays.asList(trackName)); - Set headerLines = vcfHeaders.get(trackName).getMetaData(); + Set headerLines = vcfHeaders.get(trackName).getMetaDataInSortedOrder(); baseWriter.writeHeader(new VCFHeader(headerLines, samples)); - writer = new SortingVCFWriter(baseWriter, 200); + writer = VariantContextWriterFactory.sortOnTheFly(baseWriter, 200); } public Integer map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { @@ -217,7 +223,7 @@ public class LeftAlignVariants extends RodWalker { newA = Allele.NO_CALL; newAlleles.add(newA); } - newGenotypes.add(Genotype.modifyAlleles(genotype, newAlleles)); + newGenotypes.add(new GenotypeBuilder(genotype).alleles(newAlleles).make()); } return new VariantContextBuilder(vc).alleles(alleleMap.values()).genotypes(newGenotypes).referenceBaseForIndel(refBaseForIndel).make(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariants.java index 43aa273c6..60d41abd5 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariants.java @@ -28,7 +28,9 @@ import net.sf.picard.liftover.LiftOver; import net.sf.picard.util.Interval; import net.sf.samtools.SAMFileHeader; import net.sf.samtools.SAMFileReader; -import org.broadinstitute.sting.commandline.*; +import org.broadinstitute.sting.commandline.Argument; +import org.broadinstitute.sting.commandline.ArgumentCollection; +import org.broadinstitute.sting.commandline.Output; import org.broadinstitute.sting.gatk.arguments.StandardVariantContextInputArgumentCollection; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; @@ -40,6 +42,8 @@ import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextBuilder; import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriterFactory; import java.io.File; import java.util.*; @@ -54,7 +58,7 @@ public class LiftoverVariants extends RodWalker { @Output(doc="File to which variants should be written",required=true) protected File file = null; - protected StandardVCFWriter writer = null; + protected VariantContextWriter writer = null; @Argument(fullName="chain", shortName="chain", doc="Chain file", required=true) protected File CHAIN = null; @@ -91,7 +95,7 @@ public class LiftoverVariants extends RodWalker { Set metaData = new HashSet(); if ( vcfHeaders.containsKey(trackName) ) - metaData.addAll(vcfHeaders.get(trackName).getMetaData()); + metaData.addAll(vcfHeaders.get(trackName).getMetaDataInSortedOrder()); if ( RECORD_ORIGINAL_LOCATION ) { metaData.add(new VCFInfoHeaderLine("OriginalChr", 1, VCFHeaderLineType.String, "Original contig name for the record")); metaData.add(new VCFInfoHeaderLine("OriginalStart", 1, VCFHeaderLineType.Integer, "Original start position for the record")); @@ -99,7 +103,7 @@ public class LiftoverVariants extends RodWalker { final VCFHeader vcfHeader = new VCFHeader(metaData, samples); - writer = new StandardVCFWriter(file, getMasterSequenceDictionary(), false); + writer = VariantContextWriterFactory.create(file, getMasterSequenceDictionary(), VariantContextWriterFactory.NO_OPTIONS); writer.writeHeader(vcfHeader); } @@ -125,7 +129,7 @@ public class LiftoverVariants extends RodWalker { .attribute("OriginalStart", fromInterval.getStart()).make(); } - VariantContext newVC = VariantContextUtils.createVariantContextWithPaddedAlleles(vc, false); + VariantContext newVC = VCFAlleleClipper.createVariantContextWithPaddedAlleles(vc); if ( originalVC.isSNP() && originalVC.isBiallelic() && VariantContextUtils.getSNPSubstitutionType(originalVC) != VariantContextUtils.getSNPSubstitutionType(newVC) ) { logger.warn(String.format("VCF at %s / %d => %s / %d is switching substitution type %s/%s to %s/%s", originalVC.getChr(), originalVC.getStart(), newVC.getChr(), newVC.getStart(), diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java index 88de12f9a..484f7f052 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java @@ -24,7 +24,9 @@ package org.broadinstitute.sting.gatk.walkers.variantutils; -import org.broadinstitute.sting.commandline.*; +import org.broadinstitute.sting.commandline.Argument; +import org.broadinstitute.sting.commandline.ArgumentCollection; +import org.broadinstitute.sting.commandline.Output; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.arguments.StandardVariantContextInputArgumentCollection; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; @@ -32,9 +34,13 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.utils.SampleUtils; -import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFUtils; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.VariantContext; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriterFactory; import java.io.File; import java.util.*; @@ -48,12 +54,12 @@ public class RandomlySplitVariants extends RodWalker { protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); @Output(fullName="out1", shortName="o1", doc="File #1 to which variants should be written", required=true) - protected VCFWriter vcfWriter1 = null; + protected VariantContextWriter vcfWriter1 = null; @Output(fullName="out2", shortName="o2", doc="File #2 to which variants should be written", required=true) // there's a reported bug in the GATK where we can't have 2 @Output writers protected File file2 = null; - protected StandardVCFWriter vcfWriter2 = null; + protected VariantContextWriter vcfWriter2 = null; @Argument(fullName="fractionToOut1", shortName="fraction", doc="Fraction of records to be placed in out1 (must be 0 >= fraction <= 1); all other records are placed in out2", required=false) protected double fraction = 0.5; @@ -72,7 +78,7 @@ public class RandomlySplitVariants extends RodWalker { hInfo.addAll(VCFUtils.getHeaderFields(getToolkit(), inputNames)); vcfWriter1.writeHeader(new VCFHeader(hInfo, samples)); - vcfWriter2 = new StandardVCFWriter(file2, getMasterSequenceDictionary(), true); + vcfWriter2 = VariantContextWriterFactory.create(file2, getMasterSequenceDictionary()); vcfWriter2.writeHeader(new VCFHeader(hInfo, samples)); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectHeaders.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectHeaders.java index 714fb938e..378da05d3 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectHeaders.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectHeaders.java @@ -34,10 +34,8 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.gatk.walkers.TreeReducible; import org.broadinstitute.sting.utils.SampleUtils; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; -import org.broadinstitute.sting.utils.codecs.vcf.VCFUtils; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; +import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import org.broadinstitute.sting.utils.text.ListFileUtils; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; @@ -105,7 +103,7 @@ public class SelectHeaders extends RodWalker implements TreeRe protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); @Output(doc = "File to which variants should be written", required = true) - protected VCFWriter vcfWriter; + protected VariantContextWriter vcfWriter; @Argument(fullName = "header_name", shortName = "hn", doc = "Include header. Can be specified multiple times", required = false) public Set headerNames; @@ -202,6 +200,9 @@ public class SelectHeaders extends RodWalker implements TreeRe // Remove any excluded headers. if (XLheaderNames != null) selectedHeaders = ListFileUtils.excludeMatching(selectedHeaders, headerKey, XLheaderNames, true); + + // always include the contig lines + selectedHeaders = VCFUtils.withUpdatedContigsAsLines(selectedHeaders, getToolkit().getArguments().referenceFile, getToolkit().getMasterSequenceDictionary()); return selectedHeaders; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java index 42a40cde5..fbffd620a 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java @@ -33,9 +33,15 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.samples.Sample; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.gatk.walkers.TreeReducible; +import org.broadinstitute.sting.gatk.walkers.annotator.ChromosomeCounts; +import org.broadinstitute.sting.gatk.walkers.genotyper.GenotypeLikelihoodsCalculationModel; +import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedArgumentCollection; +import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyper; +import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyperEngine; import org.broadinstitute.sting.utils.MendelianViolation; import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.text.XReadLines; import org.broadinstitute.sting.utils.variantcontext.*; @@ -200,7 +206,7 @@ public class SelectVariants extends RodWalker implements TreeR protected RodBinding concordanceTrack; @Output(doc="File to which variants should be written",required=true) - protected VCFWriter vcfWriter = null; + protected VariantContextWriter vcfWriter = null; @Argument(fullName="sample_name", shortName="sn", doc="Include genotypes from this sample. Can be specified multiple times", required=false) public Set sampleNames = new HashSet(0); @@ -235,6 +241,16 @@ public class SelectVariants extends RodWalker implements TreeR @Argument(fullName="excludeFiltered", shortName="ef", doc="Don't include filtered loci in the analysis", required=false) protected boolean EXCLUDE_FILTERED = false; + /** + * This argument triggers re-genotyping of the selected samples through the Exact calculation model. Note that this is truly the + * mathematically correct way to select samples (especially when calls were generated from low coverage sequencing data); using the + * hard genotypes to select (i.e. the default mode of SelectVariants) can lead to false positives when errors are confused for variants + * in the original genotyping. We decided not to set the --regenotype option as the default though as the output can be unexpected if + * a user is strictly comparing against the original genotypes (GTs) in the file. + */ + @Argument(fullName="regenotype", shortName="regenotype", doc="re-genotype the selected samples based on their GLs (or PLs)", required=false) + protected Boolean REGENOTYPE = false; + private UnifiedGenotyperEngine UG_engine = null; /** * When this argument is used, we can choose to include only multiallelic or biallelic sites, depending on how many alleles are listed in the ALT column of a vcf. @@ -296,6 +312,19 @@ public class SelectVariants extends RodWalker implements TreeR @Argument(fullName="outMVFile", shortName="outMVFile", doc="", required=false) private String outMVFile = null; + @Hidden + @Argument(fullName="fullyDecode", doc="If true, the incoming VariantContext will be fully decoded", required=false) + private boolean fullyDecode = false; + + @Hidden + @Argument(fullName="forceGenotypesDecode", doc="If true, the incoming VariantContext will have its genotypes forcibly decoded by computing AC across all genotypes. For efficiency testing only", required=false) + private boolean forceGenotypesDecode = false; + + @Hidden + @Argument(fullName="justRead", doc="If true, we won't actually write the output file. For efficiency testing only", required=false) + private boolean justRead = false; + + /* Private class used to store the intermediate variants in the integer random selection process */ private class RandomVariantStructure { private VariantContext vc; @@ -343,6 +372,7 @@ public class SelectVariants extends RodWalker implements TreeR private Random randomGenotypes = new Random(); private Set IDsToKeep = null; + private Map vcfRods; /** * Set up the VCF writer, the sample expressions and regexs, and the JEXL matcher @@ -351,7 +381,7 @@ public class SelectVariants extends RodWalker implements TreeR // Get list of samples to include in the output List rodNames = Arrays.asList(variantCollection.variants.getName()); - Map vcfRods = VCFUtils.getVCFHeadersFromRods(getToolkit(), rodNames); + vcfRods = VCFUtils.getVCFHeadersFromRods(getToolkit(), rodNames); TreeSet vcfSamples = new TreeSet(SampleUtils.getSampleList(vcfRods, VariantContextUtils.GenotypeMergeType.REQUIRE_UNIQUE)); Collection samplesFromFile = SampleUtils.getSamplesFromFiles(sampleFiles); @@ -372,11 +402,13 @@ public class SelectVariants extends RodWalker implements TreeR Collection XLsamplesFromFile = SampleUtils.getSamplesFromFiles(XLsampleFiles); samples.removeAll(XLsamplesFromFile); samples.removeAll(XLsampleNames); + NO_SAMPLES_SPECIFIED = NO_SAMPLES_SPECIFIED && XLsampleNames.isEmpty(); if ( samples.size() == 0 && !NO_SAMPLES_SPECIFIED ) throw new UserException("All samples requested to be included were also requested to be excluded."); - for ( String sample : samples ) + if ( ! NO_SAMPLES_SPECIFIED ) + for ( String sample : samples ) logger.info("Including sample '" + sample + "'"); // if user specified types to include, add these, otherwise, add all possible variant context types to list of vc types to include @@ -396,11 +428,12 @@ public class SelectVariants extends RodWalker implements TreeR headerLines.add(new VCFHeaderLine("source", "SelectVariants")); if (KEEP_ORIGINAL_CHR_COUNTS) { - headerLines.add(new VCFFormatHeaderLine("AC_Orig", 1, VCFHeaderLineType.Integer, "Original AC")); - headerLines.add(new VCFFormatHeaderLine("AF_Orig", 1, VCFHeaderLineType.Float, "Original AF")); - headerLines.add(new VCFFormatHeaderLine("AN_Orig", 1, VCFHeaderLineType.Integer, "Original AN")); + headerLines.add(new VCFInfoHeaderLine("AC_Orig", 1, VCFHeaderLineType.Integer, "Original AC")); + headerLines.add(new VCFInfoHeaderLine("AF_Orig", 1, VCFHeaderLineType.Float, "Original AF")); + headerLines.add(new VCFInfoHeaderLine("AN_Orig", 1, VCFHeaderLineType.Integer, "Original AN")); } - vcfWriter.writeHeader(new VCFHeader(headerLines, samples)); + headerLines.addAll(Arrays.asList(ChromosomeCounts.descriptions)); + headerLines.add(VCFStandardHeaderLines.getInfoLine(VCFConstants.DEPTH_KEY)); for (int i = 0; i < SELECT_EXPRESSIONS.size(); i++) { // It's not necessary that the user supply select names for the JEXL expressions, since those @@ -430,6 +463,14 @@ public class SelectVariants extends RodWalker implements TreeR SELECT_RANDOM_FRACTION = fractionRandom > 0; if (SELECT_RANDOM_FRACTION) logger.info("Selecting approximately " + 100.0*fractionRandom + "% of the variants at random from the variant track"); + if ( REGENOTYPE ) { + final UnifiedArgumentCollection UAC = new UnifiedArgumentCollection(); + UAC.GLmodel = GenotypeLikelihoodsCalculationModel.Model.BOTH; + UAC.OutputMode = UnifiedGenotyperEngine.OUTPUT_MODE.EMIT_ALL_SITES; + UAC.NO_SLOD = true; + UG_engine = new UnifiedGenotyperEngine(getToolkit(), UAC, logger, null, null, samples, VariantContextUtils.DEFAULT_PLOIDY); + headerLines.addAll(UnifiedGenotyper.getHeaderInfo(UAC, null, null)); + } /** load in the IDs file to a hashset for matching */ if ( rsIDFile != null ) { @@ -443,6 +484,8 @@ public class SelectVariants extends RodWalker implements TreeR throw new UserException.CouldNotReadInputFile(rsIDFile, e); } } + + vcfWriter.writeHeader(new VCFHeader(headerLines, samples)); } /** @@ -465,6 +508,16 @@ public class SelectVariants extends RodWalker implements TreeR } for (VariantContext vc : vcs) { + // an option for performance testing only + if ( fullyDecode ) + vc = vc.fullyDecode(vcfRods.get(vc.getSource()), getToolkit().lenientVCFProcessing() ); + + // an option for performance testing only + if ( forceGenotypesDecode ) { + final int x = vc.getCalledChrCount(); + //logger.info("forceGenotypesDecode with getCalledChrCount() = " + ); + } + if ( IDsToKeep != null && ! IDsToKeep.contains(vc.getID()) ) continue; @@ -508,8 +561,15 @@ public class SelectVariants extends RodWalker implements TreeR if (!selectedTypes.contains(vc.getType())) continue; - VariantContext sub = subsetRecord(vc, samples, EXCLUDE_NON_VARIANTS); - if ( (sub.isPolymorphicInSamples() || !EXCLUDE_NON_VARIANTS) && (!sub.isFiltered() || !EXCLUDE_FILTERED) ) { + VariantContext sub = subsetRecord(vc, EXCLUDE_NON_VARIANTS); + + if ( REGENOTYPE && sub.isPolymorphicInSamples() && hasPLs(sub) ) { + final VariantContextBuilder builder = new VariantContextBuilder(UG_engine.calculateGenotypes(tracker, ref, context, sub)).filters(sub.getFiltersMaybeNull()); + addAnnotations(builder, sub); + sub = builder.make(); + } + + if ( (!EXCLUDE_NON_VARIANTS || sub.isPolymorphicInSamples()) && (!EXCLUDE_FILTERED || !sub.isFiltered()) ) { boolean failedJexlMatch = false; for ( VariantContextUtils.JexlVCMatchExp jexl : jexls ) { if ( !VariantContextUtils.match(sub, jexl) ) { @@ -522,7 +582,8 @@ public class SelectVariants extends RodWalker implements TreeR randomlyAddVariant(++variantNumber, sub); } else if (!SELECT_RANDOM_FRACTION || ( GenomeAnalysisEngine.getRandomGenerator().nextDouble() < fractionRandom)) { - vcfWriter.add(sub); + if ( ! justRead ) + vcfWriter.add(sub); } } } @@ -531,6 +592,14 @@ public class SelectVariants extends RodWalker implements TreeR return 1; } + private boolean hasPLs(final VariantContext vc) { + for ( Genotype g : vc.getGenotypes() ) { + if ( g.hasLikelihoods() ) + return true; + } + return false; + } + /** * Checks if vc has a variant call for (at least one of) the samples. * @param vc the variant rod VariantContext. Here, the variant is the dataset you're looking for discordances to (e.g. HapMap) @@ -642,18 +711,14 @@ public class SelectVariants extends RodWalker implements TreeR * Helper method to subset a VC record, modifying some metadata stored in the INFO field (i.e. AN, AC, AF). * * @param vc the VariantContext record to subset - * @param samples the samples to extract * @return the subsetted VariantContext */ - private VariantContext subsetRecord(final VariantContext vc, final Set samples, final boolean excludeNonVariants) { - if ( samples == null || samples.isEmpty() ) + private VariantContext subsetRecord(final VariantContext vc, final boolean excludeNonVariants) { + if ( NO_SAMPLES_SPECIFIED || samples.isEmpty() ) return vc; - final VariantContext sub; - if ( excludeNonVariants ) - sub = vc.subContextFromSamples(samples); // strip out the alternate alleles that aren't being used - else - sub = vc.subContextFromSamples(samples, vc.getAlleles()); + final VariantContext sub = vc.subContextFromSamples(samples, excludeNonVariants); // strip out the alternate alleles that aren't being used + VariantContextBuilder builder = new VariantContextBuilder(sub); GenotypesContext newGC = sub.getGenotypes(); @@ -663,15 +728,13 @@ public class SelectVariants extends RodWalker implements TreeR newGC = VariantContextUtils.stripPLs(sub.getGenotypes()); //Remove a fraction of the genotypes if needed - if(fractionGenotypes>0){ + if ( fractionGenotypes > 0 ){ ArrayList genotypes = new ArrayList(); for ( Genotype genotype : newGC ) { //Set genotype to no call if it falls in the fraction. if(fractionGenotypes>0 && randomGenotypes.nextDouble() alleles = new ArrayList(2); - alleles.add(Allele.create((byte)'.')); - alleles.add(Allele.create((byte)'.')); - genotypes.add(new Genotype(genotype.getSampleName(),alleles, Genotype.NO_LOG10_PERROR,genotype.getFilters(),new HashMap(),false)); + List alleles = Arrays.asList(Allele.NO_CALL, Allele.NO_CALL); + genotypes.add(new GenotypeBuilder(genotype).alleles(alleles).noGQ().make()); } else{ genotypes.add(genotype); @@ -682,33 +745,36 @@ public class SelectVariants extends RodWalker implements TreeR builder.genotypes(newGC); - int depth = 0; - for (String sample : sub.getSampleNames()) { - Genotype g = sub.getGenotype(sample); + addAnnotations(builder, sub); - if ( g.isNotFiltered() ) { - - String dp = (String) g.getAttribute("DP"); - if (dp != null && ! dp.equals(VCFConstants.MISSING_DEPTH_v3) && ! dp.equals(VCFConstants.MISSING_VALUE_v4) ) { - depth += Integer.valueOf(dp); - } - } - } + return builder.make(); + } + private void addAnnotations(final VariantContextBuilder builder, final VariantContext originalVC) { + if ( fullyDecode ) return; // TODO -- annotations are broken with fully decoded data if (KEEP_ORIGINAL_CHR_COUNTS) { - if ( sub.hasAttribute(VCFConstants.ALLELE_COUNT_KEY) ) - builder.attribute("AC_Orig", sub.getAttribute(VCFConstants.ALLELE_COUNT_KEY)); - if ( sub.hasAttribute(VCFConstants.ALLELE_FREQUENCY_KEY) ) - builder.attribute("AF_Orig", sub.getAttribute(VCFConstants.ALLELE_FREQUENCY_KEY)); - if ( sub.hasAttribute(VCFConstants.ALLELE_NUMBER_KEY) ) - builder.attribute("AN_Orig", sub.getAttribute(VCFConstants.ALLELE_NUMBER_KEY)); + if ( originalVC.hasAttribute(VCFConstants.ALLELE_COUNT_KEY) ) + builder.attribute("AC_Orig", originalVC.getAttribute(VCFConstants.ALLELE_COUNT_KEY)); + if ( originalVC.hasAttribute(VCFConstants.ALLELE_FREQUENCY_KEY) ) + builder.attribute("AF_Orig", originalVC.getAttribute(VCFConstants.ALLELE_FREQUENCY_KEY)); + if ( originalVC.hasAttribute(VCFConstants.ALLELE_NUMBER_KEY) ) + builder.attribute("AN_Orig", originalVC.getAttribute(VCFConstants.ALLELE_NUMBER_KEY)); } VariantContextUtils.calculateChromosomeCounts(builder, false); - builder.attribute("DP", depth); - return builder.make(); + int depth = 0; + for (String sample : originalVC.getSampleNames()) { + Genotype g = originalVC.getGenotype(sample); + + if ( ! g.isFiltered() ) { + if ( g.hasDP() ) + depth += g.getDP(); + } + } + + builder.attribute("DP", depth); } private void randomlyAddVariant(int rank, VariantContext vc) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantValidationAssessor.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantValidationAssessor.java index 31aa8963b..3fca2d28a 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantValidationAssessor.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantValidationAssessor.java @@ -34,6 +34,7 @@ import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextBuilder; @@ -87,7 +88,7 @@ public class VariantValidationAssessor extends RodWalker protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); @Output(doc="File to which variants should be written",required=true) - protected VCFWriter vcfwriter = null; + protected VariantContextWriter vcfwriter = null; @Argument(fullName="maxHardy", doc="Maximum phred-scaled Hardy-Weinberg violation pvalue to consider an assay valid", required=false) protected double maxHardy = 20.0; @@ -169,8 +170,8 @@ public class VariantValidationAssessor extends RodWalker hInfo.add(new VCFInfoHeaderLine("HetPct", 1, VCFHeaderLineType.Float, "Percent of heterozygous genotypes")); hInfo.add(new VCFInfoHeaderLine("HomVarPct", 1, VCFHeaderLineType.Float, "Percent homozygous variant genotypes")); hInfo.add(new VCFInfoHeaderLine("HW", 1, VCFHeaderLineType.Float, "Phred-scaled Hardy-Weinberg violation p-value")); - hInfo.add(new VCFInfoHeaderLine(VCFConstants.ALLELE_COUNT_KEY, 1, VCFHeaderLineType.Integer, "Allele count in genotypes, for each ALT allele, in the same order as listed")); - hInfo.add(new VCFInfoHeaderLine(VCFConstants.ALLELE_NUMBER_KEY, 1, VCFHeaderLineType.Integer, "Total number of alleles in called genotypes")); + hInfo.add(VCFStandardHeaderLines.getInfoLine(VCFConstants.ALLELE_COUNT_KEY)); + hInfo.add(VCFStandardHeaderLines.getInfoLine(VCFConstants.ALLELE_NUMBER_KEY)); hInfo.add(new VCFFilterHeaderLine("HardyWeinbergViolation", "The validation is in Hardy-Weinberg violation")); hInfo.add(new VCFFilterHeaderLine("HighNoCallRate", "The validation no-call rate is too high")); hInfo.add(new VCFFilterHeaderLine("TooManyHomVars", "The validation homozygous variant rate is too high")); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToBinaryPed.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToBinaryPed.java index aaf3bb5cd..1ffb78124 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToBinaryPed.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToBinaryPed.java @@ -288,8 +288,8 @@ public class VariantsToBinaryPed extends RodWalker { private byte getStandardEncoding(Genotype g, int offset) { byte b; - if ( g.hasAttribute(VCFConstants.GENOTYPE_QUALITY_KEY) && ((Integer) g.getAttribute(VCFConstants.GENOTYPE_QUALITY_KEY)) < minGenotypeQuality ) { - b = NO_CALL; + if ( g.hasGQ() && g.getGQ() < minGenotypeQuality ) { + b = NO_CALL; } else if ( g.isHomRef() ) { b = HOM_REF; } else if ( g.isHomVar() ) { @@ -305,7 +305,7 @@ public class VariantsToBinaryPed extends RodWalker { private byte getFlippedEncoding(Genotype g, int offset) { byte b; - if ( g.hasAttribute(VCFConstants.GENOTYPE_QUALITY_KEY) && ((Integer) g.getAttribute(VCFConstants.GENOTYPE_QUALITY_KEY)) < minGenotypeQuality ) { + if ( g.hasGQ() && g.getGQ() < minGenotypeQuality ) { b = NO_CALL; } else if ( g.isHomRef() ) { b = HOM_VAR; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java index 46a3ba39c..996ac75e7 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java @@ -25,7 +25,10 @@ package org.broadinstitute.sting.gatk.walkers.variantutils; import org.broadinstitute.sting.commandline.*; -import org.broadinstitute.sting.gatk.arguments.StandardVariantContextInputArgumentCollection; +import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.codecs.vcf.VCFUtils; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; @@ -108,12 +111,19 @@ public class VariantsToTable extends RodWalker { /** * -F NAME can be any standard VCF column (CHROM, ID, QUAL) or any binding in the INFO field (e.g., AC=10). - * Note that this tool does not support capturing any GENOTYPE field values. Note this argument - * accepts any number of inputs. So -F CHROM -F POS is allowed. + * Note that to capture GENOTYPE (FORMAT) field values, see the GF argument. This argument accepts any number + * of inputs. So -F CHROM -F POS is allowed. */ - @Argument(fullName="fields", shortName="F", doc="The name of each field to capture for output in the table", required=true) + @Argument(fullName="fields", shortName="F", doc="The name of each field to capture for output in the table", required=false) public List fieldsToTake = new ArrayList(); + /** + * -GF NAME can be any binding in the FORMAT field (e.g., GQ, PL). + * Note this argument accepts any number of inputs. So -F GQ -F PL is allowed. + */ + @Argument(fullName="genotypeFields", shortName="GF", doc="The name of each genotype field to capture for output in the table", required=false) + public List genotypeFieldsToTake = new ArrayList(); + /** * By default this tool only emits values for fields where the FILTER field is either PASS or . (unfiltered). * Throwing this flag will cause VariantsToTable to emit values regardless of the FILTER field value. @@ -123,12 +133,11 @@ public class VariantsToTable extends RodWalker { public boolean showFiltered = false; /** - * If provided, then this tool will exit with success after this number of records have been emitted to the file. + * If provided, then this tool will exit with success after this number of VCF records have been emitted to the file. */ - @Advanced @Argument(fullName="maxRecords", shortName="M", doc="If provided, we will emit at most maxRecord records to the table", required=false) public int MAX_RECORDS = -1; - int nRecords = 0; + long nRecords = 0L; /** * By default, records with multiple ALT alleles will comprise just one line of output; note that in general this can make your resulting file @@ -139,6 +148,15 @@ public class VariantsToTable extends RodWalker { @Argument(fullName="splitMultiAllelic", shortName="SMA", doc="If provided, we will split multi-allelic records into multiple lines of output", required=false) public boolean splitMultiAllelic = false; + /** + * By default, this tool emits one line per usable VCF record (or per allele if the -SMA flag is provided). Using the -moltenize flag + * will cause records to be split into multiple lines of output: one for each field provided with -F or one for each combination of sample + * and field provided with -GF. Note that the "Sample" column for -F fields will always be "site". + */ + @Advanced + @Argument(fullName="moltenize", shortName="moltenize", doc="If provided, we will produce molten output", required=false) + public boolean moltenizeOutput = false; + /** * By default, this tool throws a UserException when it encounters a field without a value in some record. This * is generally useful when you mistype -F CHROM, so that you get a friendly warning about CHROM not being @@ -151,9 +169,29 @@ public class VariantsToTable extends RodWalker { public boolean ALLOW_MISSING_DATA = false; private final static String MISSING_DATA = "NA"; + private final List samples = new ArrayList(); + public void initialize() { + + if ( !genotypeFieldsToTake.isEmpty() ) { + Map vcfRods = VCFUtils.getVCFHeadersFromRods(getToolkit(), variants); + TreeSet vcfSamples = new TreeSet(SampleUtils.getSampleList(vcfRods, VariantContextUtils.GenotypeMergeType.REQUIRE_UNIQUE)); + samples.addAll(vcfSamples); + + // optimization: if there are no samples, we don't have to worry about any genotype fields + if ( samples.isEmpty() ) + genotypeFieldsToTake.clear(); + } + // print out the header - out.println(Utils.join("\t", fieldsToTake)); + if ( moltenizeOutput ) { + out.println("RecordID\tSample\tVariable\tValue"); + } else { + final String baseHeader = Utils.join("\t", fieldsToTake); + final String genotypeHeader = createGenotypeHeader(genotypeFieldsToTake, samples); + final String separator = (!baseHeader.isEmpty() && !genotypeHeader.isEmpty()) ? "\t" : ""; + out.println(baseHeader + separator + genotypeHeader); + } } public Integer map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { @@ -162,8 +200,13 @@ public class VariantsToTable extends RodWalker { for ( VariantContext vc : tracker.getValues(variants, context.getLocation())) { if ( showFiltered || vc.isNotFiltered() ) { - for ( final List record : extractFields(vc, fieldsToTake, ALLOW_MISSING_DATA, splitMultiAllelic) ) - out.println(Utils.join("\t", record)); + nRecords++; + for ( final List record : extractFields(vc, fieldsToTake, genotypeFieldsToTake, samples, ALLOW_MISSING_DATA, splitMultiAllelic) ) { + if ( moltenizeOutput ) + emitMoltenizedOutput(record); + else + out.println(Utils.join("\t", record)); + } } } @@ -172,30 +215,72 @@ public class VariantsToTable extends RodWalker { @Override public boolean isDone() { - boolean done = MAX_RECORDS != -1 && nRecords >= MAX_RECORDS; - if ( done) logger.warn("isDone() will return true to leave after " + nRecords + " records"); - return done ; + return (MAX_RECORDS != -1 && nRecords >= MAX_RECORDS); } private static final boolean isWildCard(String s) { return s.endsWith("*"); } + private static String createGenotypeHeader(final List genotypeFieldsToTake, final List samples) { + boolean firstEntry = true; + + final StringBuilder sb = new StringBuilder(); + for ( final String sample : samples ) { + for ( final String gf : genotypeFieldsToTake ) { + if ( firstEntry ) + firstEntry = false; + else + sb.append("\t"); + // spaces in sample names are legal but wreak havoc in R data frames + sb.append(sample.replace(" ","_")); + sb.append("."); + sb.append(gf); + } + } + return sb.toString(); + } + + private void emitMoltenizedOutput(final List record) { + int index = 0; + for ( final String field : fieldsToTake ) { + out.println(String.format("%d\tsite\t%s\t%s", nRecords, field, record.get(index++))); + } + for ( final String sample : samples ) { + for ( final String gf : genotypeFieldsToTake ) { + out.println(String.format("%d\t%s\t%s\t%s", nRecords, sample.replace(" ","_"), gf, record.get(index++))); + } + } + } + /** * Utility function that returns the list of values for each field in fields from vc. * - * @param vc the VariantContext whose field values we can to capture - * @param fields a non-null list of fields to capture from VC - * @param allowMissingData if false, then throws a UserException if any field isn't found in vc. Otherwise provides a value of NA - * @param splitMultiAllelic if true, multiallelic variants are to be split into multiple records + * @param vc the VariantContext whose field values we can to capture + * @param fields a non-null list of fields to capture from VC + * @param genotypeFields a (possibly null) list of fields to capture from each genotype + * @param samples list of samples in vc + * @param allowMissingData if false, then throws a UserException if any field isn't found in vc. Otherwise provides a value of NA + * @param splitMultiAllelic if true, multiallelic variants are to be split into multiple records * @return List of lists of field values */ - private static List> extractFields(VariantContext vc, List fields, boolean allowMissingData, boolean splitMultiAllelic) { + private static List> extractFields(final VariantContext vc, + final List fields, + final List genotypeFields, + final List samples, + final boolean allowMissingData, + final boolean splitMultiAllelic) { final int numRecordsToProduce = splitMultiAllelic ? vc.getAlternateAlleles().size() : 1; final List> records = new ArrayList>(numRecordsToProduce); + + int numFields = fields.size(); + final boolean addGenotypeFields = genotypeFields != null && !genotypeFields.isEmpty(); + if ( addGenotypeFields ) + numFields += genotypeFields.size() * samples.size(); + for ( int i = 0; i < numRecordsToProduce; i++ ) - records.add(new ArrayList(fields.size())); + records.add(new ArrayList(numFields)); for ( String field : fields ) { @@ -228,6 +313,21 @@ public class VariantsToTable extends RodWalker { } } + if ( addGenotypeFields ) { + for ( final String sample : samples ) { + for ( final String gf : genotypeFields ) { + if ( vc.hasGenotype(sample) && vc.getGenotype(sample).hasAnyAttribute(gf) ) { + if ( gf.equals(VCFConstants.GENOTYPE_KEY) ) + addFieldValue(vc.getGenotype(sample).getGenotypeString(true), records); + else + addFieldValue(vc.getGenotype(sample).getAnyAttribute(gf), records); + } + else + addFieldValue(MISSING_DATA, records); + } + } + } + return records; } @@ -253,7 +353,7 @@ public class VariantsToTable extends RodWalker { } public static List> extractFields(VariantContext vc, List fields, boolean allowMissingData) { - return extractFields(vc, fields, allowMissingData, false); + return extractFields(vc, fields, null, null, allowMissingData, false); } // // default reduce -- doesn't do anything at all @@ -278,7 +378,7 @@ public class VariantsToTable extends RodWalker { getters.put("REF", new Getter() { public String get(VariantContext vc) { StringBuilder x = new StringBuilder(); - x.append(getAlleleDisplayString(vc, vc.getReference())); + x.append(vc.getAlleleStringWithRefPadding(vc.getReference())); return x.toString(); } }); @@ -290,7 +390,7 @@ public class VariantsToTable extends RodWalker { for ( int i = 0; i < n; i++ ) { if ( i != 0 ) x.append(","); - x.append(getAlleleDisplayString(vc, vc.getAlternateAllele(i))); + x.append(vc.getAlleleStringWithRefPadding(vc.getAlternateAllele(i))); } return x.toString(); } @@ -329,22 +429,14 @@ public class VariantsToTable extends RodWalker { }}); } - private static String getAlleleDisplayString(VariantContext vc, Allele allele) { - StringBuilder sb = new StringBuilder(); - if ( vc.hasReferenceBaseForIndel() && !vc.isSNP() ) - sb.append((char)vc.getReferenceBaseForIndel().byteValue()); - sb.append(allele.getDisplayString()); - return sb.toString(); - } - private static Object splitAltAlleles(VariantContext vc) { final int numAltAlleles = vc.getAlternateAlleles().size(); if ( numAltAlleles == 1 ) - return getAlleleDisplayString(vc, vc.getAlternateAllele(0)); + return vc.getAlleleStringWithRefPadding(vc.getAlternateAllele(0)); final List alleles = new ArrayList(numAltAlleles); for ( Allele allele : vc.getAlternateAlleles() ) - alleles.add(getAlleleDisplayString(vc, allele)); + alleles.add(vc.getAlleleStringWithRefPadding(allele)); return alleles; } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCF.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCF.java index 05865b587..e8c6794f2 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCF.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCF.java @@ -35,7 +35,9 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.VariantContextAdaptors; import org.broadinstitute.sting.gatk.refdata.tracks.RMDTrackBuilder; import org.broadinstitute.sting.gatk.refdata.utils.GATKFeature; -import org.broadinstitute.sting.gatk.walkers.*; +import org.broadinstitute.sting.gatk.walkers.Reference; +import org.broadinstitute.sting.gatk.walkers.RodWalker; +import org.broadinstitute.sting.gatk.walkers.Window; import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.SampleUtils; @@ -43,6 +45,8 @@ import org.broadinstitute.sting.utils.codecs.hapmap.RawHapMapFeature; import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.*; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriterFactory; import java.io.File; import java.util.*; @@ -78,8 +82,8 @@ import java.util.*; public class VariantsToVCF extends RodWalker { @Output(doc="File to which variants should be written",required=true) - protected VCFWriter baseWriter = null; - private SortingVCFWriter vcfwriter; // needed because hapmap/dbsnp indel records move + protected VariantContextWriter baseWriter = null; + private VariantContextWriter vcfwriter; // needed because hapmap/dbsnp indel records move /** * Variants from this input file are used by this tool as input. @@ -104,12 +108,13 @@ public class VariantsToVCF extends RodWalker { private Set allowedGenotypeFormatStrings = new HashSet(); private boolean wroteHeader = false; + private Set samples; // for dealing with indels in hapmap CloseableIterator dbsnpIterator = null; public void initialize() { - vcfwriter = new SortingVCFWriter(baseWriter, 40, false); + vcfwriter = VariantContextWriterFactory.sortOnTheFly(baseWriter, 40, false); } public Integer map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { @@ -128,7 +133,7 @@ public class VariantsToVCF extends RodWalker { // set the appropriate sample name if necessary if ( sampleName != null && vc.hasGenotypes() && vc.hasGenotype(variants.getName()) ) { - Genotype g = Genotype.modifyName(vc.getGenotype(variants.getName()), sampleName); + Genotype g = new GenotypeBuilder(vc.getGenotype(variants.getName())).name(sampleName).make(); builder.genotypes(g); } @@ -215,8 +220,7 @@ public class VariantsToVCF extends RodWalker { // setup the header fields Set hInfo = new HashSet(); hInfo.addAll(VCFUtils.getHeaderFields(getToolkit(), Arrays.asList(variants.getName()))); - //hInfo.add(new VCFHeaderLine("source", "VariantsToVCF")); - //hInfo.add(new VCFHeaderLine("reference", getToolkit().getArguments().referenceFile.getID())); + hInfo.add(VCFStandardHeaderLines.getFormatLine(VCFConstants.GENOTYPE_KEY)); allowedGenotypeFormatStrings.add(VCFConstants.GENOTYPE_KEY); for ( VCFHeaderLine field : hInfo ) { @@ -225,7 +229,7 @@ public class VariantsToVCF extends RodWalker { } } - Set samples = new LinkedHashSet(); + samples = new LinkedHashSet(); if ( sampleName != null ) { samples.add(sampleName); } else { @@ -249,6 +253,7 @@ public class VariantsToVCF extends RodWalker { } vc = VariantContextUtils.purgeUnallowedGenotypeAttributes(vc, allowedGenotypeFormatStrings); + vc = VariantContextUtils.addMissingSamples(vc, samples); vcfwriter.add(vc); } diff --git a/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/ArgumentDefinitionField.java b/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/ArgumentDefinitionField.java index 00a6ac1ae..368cb3d11 100644 --- a/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/ArgumentDefinitionField.java +++ b/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/ArgumentDefinitionField.java @@ -29,7 +29,7 @@ import net.sf.samtools.SAMFileWriter; import org.broad.tribble.Tribble; import org.broadinstitute.sting.commandline.*; import org.broadinstitute.sting.gatk.io.stubs.SAMFileWriterArgumentTypeDescriptor; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import java.io.File; import java.lang.annotation.Annotation; @@ -157,7 +157,7 @@ public abstract class ArgumentDefinitionField extends ArgumentField { gatherClass = gatherer.getName(); else if (SAMFileWriter.class.isAssignableFrom(argumentDefinition.argumentType)) gatherClass = "BamGatherFunction"; - else if (VCFWriter.class.isAssignableFrom(argumentDefinition.argumentType)) + else if (VariantContextWriter.class.isAssignableFrom(argumentDefinition.argumentType)) gatherClass = "VcfGatherFunction"; else gatherClass = "org.broadinstitute.sting.queue.function.scattergather.SimpleTextGatherFunction"; @@ -168,7 +168,7 @@ public abstract class ArgumentDefinitionField extends ArgumentField { fields.add(new SAMFileWriterIndexArgumentField(argumentDefinition)); fields.add(new SAMFileWriterMD5ArgumentField(argumentDefinition)); } - else if (VCFWriter.class.isAssignableFrom(argumentDefinition.argumentType)) { + else if (VariantContextWriter.class.isAssignableFrom(argumentDefinition.argumentType)) { fields.add(new VCFWriterIndexArgumentField(argumentDefinition)); } diff --git a/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/ArgumentField.java b/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/ArgumentField.java index 2428a13a8..108a1c423 100644 --- a/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/ArgumentField.java +++ b/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/ArgumentField.java @@ -29,7 +29,7 @@ import net.sf.samtools.SAMFileWriter; import org.apache.commons.lang.StringEscapeUtils; import org.apache.commons.lang.StringUtils; import org.broadinstitute.sting.gatk.filters.PlatformUnitFilterHelper; -import org.broadinstitute.sting.utils.codecs.vcf.VCFWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; import java.io.File; import java.io.InputStream; @@ -241,7 +241,7 @@ public abstract class ArgumentField { if (InputStream.class.isAssignableFrom(clazz)) return File.class; if (SAMFileReader.class.isAssignableFrom(clazz)) return File.class; if (OutputStream.class.isAssignableFrom(clazz)) return File.class; - if (VCFWriter.class.isAssignableFrom(clazz)) return File.class; + if (VariantContextWriter.class.isAssignableFrom(clazz)) return File.class; if (SAMFileWriter.class.isAssignableFrom(clazz)) return File.class; if (PlatformUnitFilterHelper.class.isAssignableFrom(clazz)) return String.class; return clazz; diff --git a/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/GATKExtensionsGenerator.java b/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/GATKExtensionsGenerator.java index dcdef5aab..883436582 100644 --- a/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/GATKExtensionsGenerator.java +++ b/public/java/src/org/broadinstitute/sting/queue/extensions/gatk/GATKExtensionsGenerator.java @@ -195,7 +195,6 @@ public class GATKExtensionsGenerator extends CommandLineProgram { private static final List gatkPackages = Arrays.asList( "org.broadinstitute.sting.gatk", "org.broadinstitute.sting.pipeline", - "org.broadinstitute.sting.analyzecovariates", "org.broadinstitute.sting.gatk.datasources.reads.utilities"); /** @@ -252,7 +251,7 @@ public class GATKExtensionsGenerator extends CommandLineProgram { */ private void writeFilter(String className, List argumentFields, Set> dependents) throws IOException { String content = getContent(TRAIT_TEMPLATE, "org.broadinstitute.sting.queue.function.CommandLineFunction", - className, "", false, String.format(" + \" --read_filter %s\"", className), argumentFields, dependents); + className, "", false, String.format(" + required(\"--read_filter\", \"%s\")", className), argumentFields, dependents); writeFile(GATK_EXTENSIONS_PACKAGE_NAME + "." + className, content); } diff --git a/public/java/src/org/broadinstitute/sting/utils/BaseUtils.java b/public/java/src/org/broadinstitute/sting/utils/BaseUtils.java index 61812629c..393dd5735 100644 --- a/public/java/src/org/broadinstitute/sting/utils/BaseUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/BaseUtils.java @@ -2,6 +2,8 @@ package org.broadinstitute.sting.utils; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import java.util.Arrays; + /** * BaseUtils contains some basic utilities for manipulating nucleotides. */ @@ -47,6 +49,20 @@ public class BaseUtils { public boolean sameBase(int i) { return index == i; } } + static private final int[] baseIndexMap = new int[256]; + static { + Arrays.fill(baseIndexMap, -1); + baseIndexMap['A'] = 0; + baseIndexMap['a'] = 0; + baseIndexMap['*'] = 0; // the wildcard character counts as an A + baseIndexMap['C'] = 1; + baseIndexMap['c'] = 1; + baseIndexMap['G'] = 2; + baseIndexMap['g'] = 2; + baseIndexMap['T'] = 3; + baseIndexMap['t'] = 3; + } + // todo -- fix me (enums?) public static final byte DELETION_INDEX = 4; public static final byte NO_CALL_INDEX = 5; // (this is 'N') @@ -101,6 +117,17 @@ public class BaseUtils { return extendedBaseToBaseIndex(base1) == extendedBaseToBaseIndex(base2); } + /** + * @return true iff the bases array contains at least one instance of base + */ + static public boolean containsBase(final byte[] bases, final byte base) { + for ( final byte b : bases ) { + if ( b == base ) + return true; + } + return false; + } + /** * Converts a IUPAC nucleotide code to a pair of bases * @@ -171,27 +198,7 @@ public class BaseUtils { * @return 0, 1, 2, 3, or -1 if the base can't be understood */ static public int simpleBaseToBaseIndex(byte base) { - switch (base) { - case '*': // the wildcard character counts as an A - case 'A': - case 'a': - return 0; - - case 'C': - case 'c': - return 1; - - case 'G': - case 'g': - return 2; - - case 'T': - case 't': - return 3; - - default: - return -1; - } + return baseIndexMap[base]; } /** @@ -202,27 +209,7 @@ public class BaseUtils { */ @Deprecated static public int simpleBaseToBaseIndex(char base) { - switch (base) { - case '*': // the wildcard character counts as an A - case 'A': - case 'a': - return 0; - - case 'C': - case 'c': - return 1; - - case 'G': - case 'g': - return 2; - - case 'T': - case 't': - return 3; - - default: - return -1; - } + return baseIndexMap[base]; } static public int extendedBaseToBaseIndex(byte base) { @@ -273,11 +260,6 @@ public class BaseUtils { } } - @Deprecated - static public char baseIndexToSimpleBaseAsChar(int baseIndex) { - return (char) baseIndexToSimpleBase(baseIndex); - } - /** * Converts a base index to a base index representing its cross-talk partner * diff --git a/public/java/src/org/broadinstitute/sting/utils/BitSetUtils.java b/public/java/src/org/broadinstitute/sting/utils/BitSetUtils.java index 6d3493211..0f61b20d7 100644 --- a/public/java/src/org/broadinstitute/sting/utils/BitSetUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/BitSetUtils.java @@ -1,10 +1,8 @@ package org.broadinstitute.sting.utils; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; - -import java.io.ByteArrayOutputStream; -import java.io.ObjectOutputStream; import java.util.BitSet; +import java.util.HashMap; +import java.util.Map; /** * Utilities for bitset conversion @@ -14,10 +12,8 @@ import java.util.BitSet; */ public class BitSetUtils { - static final private int MAX_DNA_CONTEXT = 31; // the maximum context size (number of bases) permitted in the "long bitset" implementation of the DNA <=> BitSet conversion. static final private byte NBITS_LONG_REPRESENTATION = 64; // the number of bits used in the long version to represent the bit set (necessary for the two's complement representation of negative numbers) static final private byte NBITS_SHORT_REPRESENTATION = 16; // the number of bits used in the short version to represent the bit set (necessary for the two's complement representation of negative numbers) - static final long[] combinationsPerLength = new long[MAX_DNA_CONTEXT + 1]; // keeps the memoized table with the number of combinations for each given DNA context length /** * Creates an long out of a bitset @@ -71,8 +67,15 @@ public class BitSetUtils { * @return a bitset representation of the short */ public static BitSet bitSetFrom(short number) { - return bitSetFrom(number, NBITS_SHORT_REPRESENTATION); + BitSet result = shortCache.get(number); + if (result == null) { + result = bitSetFrom(number, NBITS_SHORT_REPRESENTATION); + shortCache.put(number, result); + } + return result; } + // use a static cache for shorts (but not for longs, because there could be a lot of entries) + private static final Map shortCache = new HashMap(2 * Short.MAX_VALUE); /** * Creates a BitSet representation of an arbitrary integer (number of bits capped at 64 -- long precision) @@ -82,7 +85,7 @@ public class BitSetUtils { * @return a bitset representation of the integer */ public static BitSet bitSetFrom(long number, int nBits) { - BitSet bitSet = new BitSet(); + BitSet bitSet = new BitSet(nBits); boolean isNegative = number < 0; int bitIndex = 0; while (number != 0) { @@ -103,182 +106,4 @@ public class BitSetUtils { } return bitSet; } - - /** - * Converts a BitSet into the dna string representation. - * - * Warning: This conversion is limited to long precision, therefore the dna sequence cannot - * be longer than 31 bases. To increase this limit, use BigNumbers instead of long and create - * a bitSetFrom(BigNumber) method. - * - * We calculate the length of the resulting DNA sequence by looking at the sum(4^i) that exceeds the - * base_10 representation of the sequence. This is important for us to know how to bring the number - * to a quasi-canonical base_4 representation, and to fill in leading A's (since A's are represented - * as 0's and leading 0's are omitted). - * - * quasi-canonical because A is represented by a 0, therefore, - * instead of : 0, 1, 2, 3, 10, 11, 12, ... - * we have : 0, 1, 2, 3, 00, 01, 02, ... - * - * but we can correctly decode it because we know the final length. - * - * @param bitSet the bitset representation of the dna sequence - * @return the dna sequence represented by the bitset - */ - public static String dnaFrom(final BitSet bitSet) { - long number = longFrom(bitSet); // the base_10 representation of the bit set - if (number < 0) - throw new ReviewedStingException("dna conversion cannot handle negative numbers. Possible overflow?"); - - int length = contextLengthFor(number); // the length of the context (the number of combinations is memoized, so costs zero to separate this into two method calls) - number -= combinationsFor(length - 1); // subtract the the number of combinations of the preceding context from the number to get to the quasi-canonical representation - - String dna = ""; - while (number > 0) { // perform a simple base_10 to base_4 conversion (quasi-canonical) - byte base = (byte) (number % 4); - switch (base) { - case 0: - dna = "A" + dna; - break; - case 1: - dna = "C" + dna; - break; - case 2: - dna = "G" + dna; - break; - case 3: - dna = "T" + dna; - break; - } - number /= 4; - } - for (int j = dna.length(); j < length; j++) - dna = "A" + dna; // add leading A's as necessary (due to the "quasi" canonical status, see description above) - - return dna; - } - - /** - * Creates a BitSet representation of a given dna string. - * - * Warning: This conversion is limited to long precision, therefore the dna sequence cannot - * be longer than 31 bases. To increase this limit, use BigNumbers instead of long and create - * a bitSetFrom(BigNumber) method. - * - * The bit representation of a dna string is the simple: - * 0 A 4 AA 8 CA - * 1 C 5 AC ... - * 2 G 6 AG 1343 TTGGT - * 3 T 7 AT 1364 TTTTT - * - * To convert from dna to number, we convert the dna string to base10 and add all combinations that - * preceded the string (with smaller lengths). - * - * @param dna the dna sequence - * @return the bitset representing the dna sequence - */ - public static BitSet bitSetFrom(String dna) { - if (dna.length() > MAX_DNA_CONTEXT) - throw new ReviewedStingException(String.format("DNA Length cannot be bigger than %d. dna: %s (%d)", MAX_DNA_CONTEXT, dna, dna.length())); - - long baseTen = 0; // the number in base_10 that we are going to use to generate the bit set - long preContext = combinationsFor(dna.length() - 1); // the sum of all combinations that preceded the length of the dna string - for (int i = 0; i < dna.length(); i++) { - baseTen *= 4; - switch (dna.charAt(i)) { - case 'A': - baseTen += 0; - break; - case 'C': - baseTen += 1; - break; - case 'G': - baseTen += 2; - break; - case 'T': - baseTen += 3; - break; - } - } - return bitSetFrom(baseTen + preContext); // the number representing this DNA string is the base_10 representation plus all combinations that preceded this string length. - } - - /** - * Calculates the number of bits necessary to represent a given number of elements - * - * @param numberOfElements the number of elements to represent (must be positive) - * @return the number of bits necessary to represent this many elements - */ - public static int numberOfBitsToRepresent(long numberOfElements) { - if (numberOfElements < 0) - throw new ReviewedStingException("Number of elements must be positive: " + numberOfElements); - - if (numberOfElements == 1L) - return 1; // special case - - int n = 0; - numberOfElements--; - while (numberOfElements > 0) { - numberOfElements = numberOfElements >> 1; - n++; - } - return n; - } - - /** - * Calculates the length of the DNA context for a given base 10 number - * - * It is important to know the length given the base 10 number to calculate the number of combinations - * and to disambiguate the "quasi-canonical" state. - * - * This method also calculates the number of combinations as a by-product, but since it memoizes the - * results, a subsequent call to combinationsFor(length) is O(1). - * - * @param number the base 10 representation of the bitset - * @return the length of the DNA context represented by this number - */ - private static int contextLengthFor(long number) { - int length = 1; // the calculated length of the DNA sequence given the base_10 representation of its BitSet. - long combinations = combinationsFor(length); // the next context (we advance it so we know which one was preceding it). - while (combinations <= number) { // find the length of the dna string (length) - length++; - combinations = combinationsFor(length); // calculate the next context - } - return length; - } - - /** - * The sum of all combinations of a context of a given length from length = 0 to length. - * - * Memoized implementation of sum(4^i) , where i=[0,length] - * - * @param length the length of the DNA context - * @return the sum of all combinations leading up to this context length. - */ - private static long combinationsFor(int length) { - if (length > MAX_DNA_CONTEXT) - throw new ReviewedStingException(String.format("Context cannot be longer than %d bases but requested %d.", MAX_DNA_CONTEXT, length)); - - // only calculate the number of combinations if the table hasn't already cached the value - if (length > 0 && combinationsPerLength[length] == 0) { - long combinations = 0L; - for (int i = 1; i <= length; i++) - combinations += (1L << 2 * i); // add all combinations with 4^i ( 4^i is the same as 2^(2*i) ) - combinationsPerLength[length] = combinations; - } - return combinationsPerLength[length]; - } - - - public static byte[] sizeOf(Object obj) throws java.io.IOException - { - ByteArrayOutputStream byteObject = new ByteArrayOutputStream(); - ObjectOutputStream objectOutputStream = new ObjectOutputStream(byteObject); - objectOutputStream.writeObject(obj); - objectOutputStream.flush(); - objectOutputStream.close(); - byteObject.close(); - - return byteObject.toByteArray(); - } } diff --git a/public/java/src/org/broadinstitute/sting/utils/GenomeLocParser.java b/public/java/src/org/broadinstitute/sting/utils/GenomeLocParser.java index 4a5032936..4f2b5b2eb 100644 --- a/public/java/src/org/broadinstitute/sting/utils/GenomeLocParser.java +++ b/public/java/src/org/broadinstitute/sting/utils/GenomeLocParser.java @@ -46,7 +46,7 @@ import org.broadinstitute.sting.utils.variantcontext.VariantContext; @Invariant({ "logger != null", "contigInfo != null"}) -public class GenomeLocParser { +public final class GenomeLocParser { private static Logger logger = Logger.getLogger(GenomeLocParser.class); // -------------------------------------------------------------------------------------------------------------- @@ -86,12 +86,12 @@ public class GenomeLocParser { } @Requires("contig != null") - public synchronized boolean hasContig(final String contig) { + public final synchronized boolean hasContig(final String contig) { return contig.equals(lastContig) || dict.getSequence(contig) != null; } @Requires("index >= 0") - public synchronized boolean hasContig(final int index) { + public final synchronized boolean hasContig(final int index) { return lastIndex == index || dict.getSequence(index) != null; } @@ -125,12 +125,12 @@ public class GenomeLocParser { } @Requires({"contig != null", "lastContig != null"}) - private synchronized boolean isCached(final String contig) { + private final synchronized boolean isCached(final String contig) { return lastContig.equals(contig); } @Requires({"lastIndex != -1", "index >= 0"}) - private synchronized boolean isCached(final int index) { + private final synchronized boolean isCached(final int index) { return lastIndex == index; } @@ -144,7 +144,7 @@ public class GenomeLocParser { */ @Requires("contig != null || index >= 0") @Ensures("result != null") - private synchronized SAMSequenceRecord updateCache(final String contig, int index ) { + private final synchronized SAMSequenceRecord updateCache(final String contig, int index ) { SAMSequenceRecord rec = contig == null ? dict.getSequence(index) : dict.getSequence(contig); if ( rec == null ) { throw new ReviewedStingException("BUG: requested unknown contig=" + contig + " index=" + index); @@ -187,11 +187,11 @@ public class GenomeLocParser { * * @return True if the contig is valid. False otherwise. */ - public boolean contigIsInDictionary(String contig) { + public final boolean contigIsInDictionary(String contig) { return contig != null && contigInfo.hasContig(contig); } - public boolean indexIsInDictionary(final int index) { + public final boolean indexIsInDictionary(final int index) { return index >= 0 && contigInfo.hasContig(index); } @@ -205,7 +205,7 @@ public class GenomeLocParser { */ @Ensures("result != null") @ThrowEnsures({"UserException.MalformedGenomeLoc", "!contigIsInDictionary(contig) || contig == null"}) - public SAMSequenceRecord getContigInfo(final String contig) { + public final SAMSequenceRecord getContigInfo(final String contig) { if ( contig == null || ! contigIsInDictionary(contig) ) throw new UserException.MalformedGenomeLoc(String.format("Contig %s given as location, but this contig isn't present in the Fasta sequence dictionary", contig)); return contigInfo.getSequence(contig); @@ -220,7 +220,7 @@ public class GenomeLocParser { */ @Ensures("result >= 0") @ThrowEnsures({"UserException.MalformedGenomeLoc", "!contigIsInDictionary(contig) || contig == null"}) - public int getContigIndex(final String contig) { + public final int getContigIndex(final String contig) { return getContigInfo(contig).getSequenceIndex(); } @@ -231,6 +231,14 @@ public class GenomeLocParser { return contigInfo.getSequenceIndex(contig); } + /** + * Return the master sequence dictionary used within this GenomeLocParser + * @return + */ + public final SAMSequenceDictionary getContigs() { + return contigInfo.dict; + } + // -------------------------------------------------------------------------------------------------------------- // // Low-level creation functions @@ -296,11 +304,11 @@ public class GenomeLocParser { return vglHelper(exceptOnError, String.format("The contig index %d is greater than the stored sequence count (%d)", contigIndex, contigInfo.getNSequences())); if ( mustBeOnReference ) { - if (start < 0) - return vglHelper(exceptOnError, String.format("The start position %d is less than 0", start)); + if (start < 1) + return vglHelper(exceptOnError, String.format("The start position %d is less than 1", start)); - if (stop < 0) - return vglHelper(exceptOnError, String.format("The stop position %d is less than 0", stop)); + if (stop < 1) + return vglHelper(exceptOnError, String.format("The stop position %d is less than 1", stop)); int contigSize = contigInfo.getSequence(contigIndex).getSequenceLength(); if (start > contigSize || stop > contigSize) @@ -579,6 +587,27 @@ public class GenomeLocParser { return createGenomeLoc(contigName, contigIndex, start, stop, true); } + /** + * Creates a loc padded in both directions by maxBasePairs size (if possible). + * @param loc The original loc + * @param padding The number of base pairs to pad on either end + * @return The contiguous loc of length up to the original length + 2*padding (depending on the start/end of the contig). + */ + @Requires({"loc != null", "padding > 0"}) + public GenomeLoc createPaddedGenomeLoc(final GenomeLoc loc, final int padding) { + if (GenomeLoc.isUnmapped(loc)) + return loc; + final String contigName = loc.getContig(); + final SAMSequenceRecord contig = contigInfo.getSequence(contigName); + final int contigIndex = contig.getSequenceIndex(); + final int contigLength = contig.getSequenceLength(); + + final int start = Math.max(1, loc.getStart() - padding); + final int stop = Math.min(contigLength, loc.getStop() + padding); + + return createGenomeLoc(contigName, contigIndex, start, stop, true); + } + /** * Creates a loc to the right (starting at the loc stop + 1) of maxBasePairs size. * @param loc The original loc diff --git a/public/java/src/org/broadinstitute/sting/utils/Haplotype.java b/public/java/src/org/broadinstitute/sting/utils/Haplotype.java index 03c7d279b..829e75682 100755 --- a/public/java/src/org/broadinstitute/sting/utils/Haplotype.java +++ b/public/java/src/org/broadinstitute/sting/utils/Haplotype.java @@ -44,6 +44,8 @@ public class Haplotype { private boolean isRef = false; private Cigar cigar; private int alignmentStartHapwrtRef; + public int leftBreakPoint = 0; + public int rightBreakPoint = 0; /** * Create a simple consensus sequence with provided bases and a uniform quality over all bases of qual @@ -158,12 +160,12 @@ public class Haplotype { } @Requires({"refInsertLocation >= 0"}) - public byte[] insertAllele( final Allele refAllele, final Allele altAllele, int refInsertLocation ) { - + public Haplotype insertAllele( final Allele refAllele, final Allele altAllele, int refInsertLocation ) { + if( refAllele.length() != altAllele.length() ) { refInsertLocation++; } - int haplotypeInsertLocation = ReadUtils.getReadCoordinateForReferenceCoordinate(alignmentStartHapwrtRef, cigar, refInsertLocation, ReadUtils.ClippingTail.RIGHT_TAIL, true); + final int haplotypeInsertLocation = ReadUtils.getReadCoordinateForReferenceCoordinate(alignmentStartHapwrtRef, cigar, refInsertLocation, ReadUtils.ClippingTail.RIGHT_TAIL, true); if( haplotypeInsertLocation == -1 ) { // desired change falls inside deletion so don't bother creating a new haplotype - return bases.clone(); + return new Haplotype(bases.clone()); } byte[] newHaplotype; @@ -196,10 +198,10 @@ public class Haplotype { } } } catch (Exception e) { // event already on haplotype is too large/complex to insert another allele, most likely because of not enough reference padding - return bases.clone(); + return new Haplotype(bases.clone()); } - - return newHaplotype; + + return new Haplotype(newHaplotype); } public static LinkedHashMap makeHaplotypeListFromAlleles(List alleleList, int startPos, ReferenceContext ref, diff --git a/public/java/src/org/broadinstitute/sting/utils/MathUtils.java b/public/java/src/org/broadinstitute/sting/utils/MathUtils.java index e8b05b525..e024253c9 100644 --- a/public/java/src/org/broadinstitute/sting/utils/MathUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/MathUtils.java @@ -55,7 +55,7 @@ public class MathUtils { private static final double JACOBIAN_LOG_TABLE_INV_STEP = 1.0 / 0.001; private static final double MAX_JACOBIAN_TOLERANCE = 8.0; private static final int JACOBIAN_LOG_TABLE_SIZE = (int) (MAX_JACOBIAN_TOLERANCE / JACOBIAN_LOG_TABLE_STEP) + 1; - private static final int MAXN = 11000; + private static final int MAXN = 50000; private static final int LOG10_CACHE_SIZE = 4 * MAXN; // we need to be able to go up to 2*(2N) when calculating some of the coefficients static { @@ -1419,7 +1419,7 @@ public class MathUtils { * @return the log10 of the binomial coefficient */ public static double log10BinomialCoefficient(int n, int k) { - return log10Gamma(n + 1) - log10Gamma(k + 1) - log10Gamma(n - k + 1); + return log10Factorial(n) - log10Factorial(k) - log10Factorial(n - k); } public static double log10BinomialProbability(int n, int k, double log10p) { @@ -1438,9 +1438,9 @@ public class MathUtils { public static double log10MultinomialCoefficient(int n, int[] k) { double denominator = 0.0; for (int x : k) { - denominator += log10Gamma(x + 1); + denominator += log10Factorial(x ); } - return log10Gamma(n + 1) - denominator; + return log10Factorial(n) - denominator; } /** @@ -1463,11 +1463,15 @@ public class MathUtils { } public static double factorial(int x) { - return Math.pow(10, log10Gamma(x + 1)); + // avoid rounding errors caused by fact that 10^log(x) might be slightly lower than x and flooring may produce 1 less than real value + return (double)Math.round(Math.pow(10, log10Factorial(x))); } public static double log10Factorial(int x) { - return log10Gamma(x + 1); + if (x >= log10FactorialCache.length || x < 0) + return log10Gamma(x + 1); + else + return log10FactorialCache[x]; } /** @@ -1525,8 +1529,8 @@ public class MathUtils { /** Same routine, unboxed types for efficiency * - * @param x - * @param y + * @param x First vector + * @param y Second vector * @return Vector of same length as x and y so that z[k] = x[k]+y[k] */ public static double[] vectorSum(double[]x, double[] y) { @@ -1540,6 +1544,39 @@ public class MathUtils { return result; } + /** Compute Z=X-Y for two numeric vectors X and Y + * + * @param x First vector + * @param y Second vector + * @return Vector of same length as x and y so that z[k] = x[k]-y[k] + */ + public static double[] vectorDiff(double[]x, double[] y) { + if (x.length != y.length) + throw new ReviewedStingException("BUG: Lengths of x and y must be the same"); + + double[] result = new double[x.length]; + for (int k=0; k Double[] scalarTimesVector(E a, E[] v1) { diff --git a/public/java/src/org/broadinstitute/sting/utils/MendelianViolation.java b/public/java/src/org/broadinstitute/sting/utils/MendelianViolation.java index b9c209e69..a605a5596 100755 --- a/public/java/src/org/broadinstitute/sting/utils/MendelianViolation.java +++ b/public/java/src/org/broadinstitute/sting/utils/MendelianViolation.java @@ -2,6 +2,7 @@ package org.broadinstitute.sting.utils; import org.broadinstitute.sting.gatk.samples.Sample; import org.broadinstitute.sting.utils.variantcontext.Genotype; +import org.broadinstitute.sting.utils.variantcontext.GenotypeType; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.*; @@ -30,7 +31,7 @@ public class MendelianViolation { private boolean allCalledOnly = true; //Stores occurrences of inheritance - private EnumMap>> inheritance; + private EnumMap>> inheritance; private int violations_total=0; @@ -74,119 +75,119 @@ public class MendelianViolation { //Count of HomRef/HomRef/HomRef trios public int getRefRefRef(){ - return inheritance.get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_REF); + return inheritance.get(GenotypeType.HOM_REF).get(GenotypeType.HOM_REF).get(GenotypeType.HOM_REF); } //Count of HomVar/HomVar/HomVar trios public int getVarVarVar(){ - return inheritance.get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_VAR); + return inheritance.get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_VAR); } //Count of HomRef/HomVar/Het trios public int getRefVarHet(){ - return inheritance.get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_VAR).get(Genotype.Type.HET) + - inheritance.get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_REF).get(Genotype.Type.HET); + return inheritance.get(GenotypeType.HOM_REF).get(GenotypeType.HOM_VAR).get(GenotypeType.HET) + + inheritance.get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_REF).get(GenotypeType.HET); } //Count of Het/Het/Het trios public int getHetHetHet(){ - return inheritance.get(Genotype.Type.HET).get(Genotype.Type.HET).get(Genotype.Type.HET); + return inheritance.get(GenotypeType.HET).get(GenotypeType.HET).get(GenotypeType.HET); } //Count of Het/Het/HomRef trios public int getHetHetHomRef(){ - return inheritance.get(Genotype.Type.HET).get(Genotype.Type.HET).get(Genotype.Type.HOM_REF); + return inheritance.get(GenotypeType.HET).get(GenotypeType.HET).get(GenotypeType.HOM_REF); } //Count of Het/Het/HomVar trios public int getHetHetHomVar(){ - return inheritance.get(Genotype.Type.HET).get(Genotype.Type.HET).get(Genotype.Type.HOM_VAR); + return inheritance.get(GenotypeType.HET).get(GenotypeType.HET).get(GenotypeType.HOM_VAR); } //Count of ref alleles inherited from Het/Het parents (no violation) public int getParentsHetHetInheritedRef(){ - return inheritance.get(Genotype.Type.HET).get(Genotype.Type.HET).get(Genotype.Type.HET) - + 2*inheritance.get(Genotype.Type.HET).get(Genotype.Type.HET).get(Genotype.Type.HOM_REF); + return inheritance.get(GenotypeType.HET).get(GenotypeType.HET).get(GenotypeType.HET) + + 2*inheritance.get(GenotypeType.HET).get(GenotypeType.HET).get(GenotypeType.HOM_REF); //return parentsHetHet_childRef; } //Count of var alleles inherited from Het/Het parents (no violation) public int getParentsHetHetInheritedVar(){ - return inheritance.get(Genotype.Type.HET).get(Genotype.Type.HET).get(Genotype.Type.HET) - + 2*inheritance.get(Genotype.Type.HET).get(Genotype.Type.HET).get(Genotype.Type.HOM_VAR); + return inheritance.get(GenotypeType.HET).get(GenotypeType.HET).get(GenotypeType.HET) + + 2*inheritance.get(GenotypeType.HET).get(GenotypeType.HET).get(GenotypeType.HOM_VAR); //return parentsHetHet_childVar; } //Count of ref alleles inherited from HomRef/Het parents (no violation) public int getParentsRefHetInheritedRef(){ - return inheritance.get(Genotype.Type.HOM_REF).get(Genotype.Type.HET).get(Genotype.Type.HOM_REF) - + inheritance.get(Genotype.Type.HET).get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_REF); + return inheritance.get(GenotypeType.HOM_REF).get(GenotypeType.HET).get(GenotypeType.HOM_REF) + + inheritance.get(GenotypeType.HET).get(GenotypeType.HOM_REF).get(GenotypeType.HOM_REF); //return parentsHomRefHet_childRef; } //Count of var alleles inherited from HomRef/Het parents (no violation) public int getParentsRefHetInheritedVar(){ - return inheritance.get(Genotype.Type.HOM_REF).get(Genotype.Type.HET).get(Genotype.Type.HET) - + inheritance.get(Genotype.Type.HET).get(Genotype.Type.HOM_REF).get(Genotype.Type.HET); + return inheritance.get(GenotypeType.HOM_REF).get(GenotypeType.HET).get(GenotypeType.HET) + + inheritance.get(GenotypeType.HET).get(GenotypeType.HOM_REF).get(GenotypeType.HET); //return parentsHomRefHet_childVar; } //Count of ref alleles inherited from HomVar/Het parents (no violation) public int getParentsVarHetInheritedRef(){ - return inheritance.get(Genotype.Type.HOM_VAR).get(Genotype.Type.HET).get(Genotype.Type.HET) - + inheritance.get(Genotype.Type.HET).get(Genotype.Type.HOM_VAR).get(Genotype.Type.HET); + return inheritance.get(GenotypeType.HOM_VAR).get(GenotypeType.HET).get(GenotypeType.HET) + + inheritance.get(GenotypeType.HET).get(GenotypeType.HOM_VAR).get(GenotypeType.HET); //return parentsHomVarHet_childRef; } //Count of var alleles inherited from HomVar/Het parents (no violation) public int getParentsVarHetInheritedVar(){ - return inheritance.get(Genotype.Type.HOM_VAR).get(Genotype.Type.HET).get(Genotype.Type.HOM_VAR) - + inheritance.get(Genotype.Type.HET).get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_VAR); + return inheritance.get(GenotypeType.HOM_VAR).get(GenotypeType.HET).get(GenotypeType.HOM_VAR) + + inheritance.get(GenotypeType.HET).get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_VAR); //return parentsHomVarHet_childVar; } //Count of violations of the type HOM_REF/HOM_REF -> HOM_VAR public int getParentsRefRefChildVar(){ - return inheritance.get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_VAR); + return inheritance.get(GenotypeType.HOM_REF).get(GenotypeType.HOM_REF).get(GenotypeType.HOM_VAR); } //Count of violations of the type HOM_REF/HOM_REF -> HET public int getParentsRefRefChildHet(){ - return inheritance.get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_REF).get(Genotype.Type.HET); + return inheritance.get(GenotypeType.HOM_REF).get(GenotypeType.HOM_REF).get(GenotypeType.HET); } //Count of violations of the type HOM_REF/HET -> HOM_VAR public int getParentsRefHetChildVar(){ - return inheritance.get(Genotype.Type.HOM_REF).get(Genotype.Type.HET).get(Genotype.Type.HOM_VAR) - + inheritance.get(Genotype.Type.HET).get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_VAR); + return inheritance.get(GenotypeType.HOM_REF).get(GenotypeType.HET).get(GenotypeType.HOM_VAR) + + inheritance.get(GenotypeType.HET).get(GenotypeType.HOM_REF).get(GenotypeType.HOM_VAR); } //Count of violations of the type HOM_REF/HOM_VAR -> HOM_VAR public int getParentsRefVarChildVar(){ - return inheritance.get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_VAR) - + inheritance.get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_VAR); + return inheritance.get(GenotypeType.HOM_REF).get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_VAR) + + inheritance.get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_REF).get(GenotypeType.HOM_VAR); } //Count of violations of the type HOM_REF/HOM_VAR -> HOM_REF public int getParentsRefVarChildRef(){ - return inheritance.get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_REF) - + inheritance.get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_REF).get(Genotype.Type.HOM_REF); + return inheritance.get(GenotypeType.HOM_REF).get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_REF) + + inheritance.get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_REF).get(GenotypeType.HOM_REF); } //Count of violations of the type HOM_VAR/HET -> HOM_REF public int getParentsVarHetChildRef(){ - return inheritance.get(Genotype.Type.HET).get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_REF) - + inheritance.get(Genotype.Type.HOM_VAR).get(Genotype.Type.HET).get(Genotype.Type.HOM_REF); + return inheritance.get(GenotypeType.HET).get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_REF) + + inheritance.get(GenotypeType.HOM_VAR).get(GenotypeType.HET).get(GenotypeType.HOM_REF); } //Count of violations of the type HOM_VAR/HOM_VAR -> HOM_REF public int getParentsVarVarChildRef(){ - return inheritance.get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_REF); + return inheritance.get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_REF); } //Count of violations of the type HOM_VAR/HOM_VAR -> HET public int getParentsVarVarChildHet(){ - return inheritance.get(Genotype.Type.HOM_VAR).get(Genotype.Type.HOM_VAR).get(Genotype.Type.HET); + return inheritance.get(GenotypeType.HOM_VAR).get(GenotypeType.HOM_VAR).get(GenotypeType.HET); } @@ -362,12 +363,12 @@ public class MendelianViolation { private void createInheritanceMap(){ - inheritance = new EnumMap>>(Genotype.Type.class); - for(Genotype.Type mType : Genotype.Type.values()){ - inheritance.put(mType, new EnumMap>(Genotype.Type.class)); - for(Genotype.Type dType : Genotype.Type.values()){ - inheritance.get(mType).put(dType, new EnumMap(Genotype.Type.class)); - for(Genotype.Type cType : Genotype.Type.values()){ + inheritance = new EnumMap>>(GenotypeType.class); + for(GenotypeType mType : GenotypeType.values()){ + inheritance.put(mType, new EnumMap>(GenotypeType.class)); + for(GenotypeType dType : GenotypeType.values()){ + inheritance.get(mType).put(dType, new EnumMap(GenotypeType.class)); + for(GenotypeType cType : GenotypeType.values()){ inheritance.get(mType).get(dType).put(cType, 0); } } @@ -376,9 +377,9 @@ public class MendelianViolation { } private void clearInheritanceMap(){ - for(Genotype.Type mType : Genotype.Type.values()){ - for(Genotype.Type dType : Genotype.Type.values()){ - for(Genotype.Type cType : Genotype.Type.values()){ + for(GenotypeType mType : GenotypeType.values()){ + for(GenotypeType dType : GenotypeType.values()){ + for(GenotypeType cType : GenotypeType.values()){ inheritance.get(mType).get(dType).put(cType, 0); } } diff --git a/public/java/src/org/broadinstitute/sting/utils/NGSPlatform.java b/public/java/src/org/broadinstitute/sting/utils/NGSPlatform.java index 597dc4803..504704e55 100644 --- a/public/java/src/org/broadinstitute/sting/utils/NGSPlatform.java +++ b/public/java/src/org/broadinstitute/sting/utils/NGSPlatform.java @@ -81,6 +81,7 @@ public enum NGSPlatform { * @return an NGSPlatform object matching the PL field of the header, of UNKNOWN if there was no match */ public static final NGSPlatform fromReadGroup(SAMReadGroupRecord rg) { + if ( rg == null ) return UNKNOWN; return fromReadGroupPL(rg.getPlatform()); } diff --git a/public/java/src/org/broadinstitute/sting/utils/SampleUtils.java b/public/java/src/org/broadinstitute/sting/utils/SampleUtils.java index 360a855fa..26c95bffd 100755 --- a/public/java/src/org/broadinstitute/sting/utils/SampleUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/SampleUtils.java @@ -150,8 +150,7 @@ public class SampleUtils { // iterate to get all of the sample names for ( Map.Entry pair : VCFUtils.getVCFHeadersFromRods(toolkit).entrySet() ) { - Set vcfSamples = pair.getValue().getGenotypeSamples(); - for ( String sample : vcfSamples ) + for ( String sample : pair.getValue().getGenotypeSamples() ) addUniqueSample(samples, sampleOverlapMap, rodNamesToSampleNames, sample, pair.getKey()); } } diff --git a/public/java/src/org/broadinstitute/sting/utils/SequenceDictionaryUtils.java b/public/java/src/org/broadinstitute/sting/utils/SequenceDictionaryUtils.java index ee47a0f2b..d7a390692 100755 --- a/public/java/src/org/broadinstitute/sting/utils/SequenceDictionaryUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/SequenceDictionaryUtils.java @@ -225,9 +225,9 @@ public class SequenceDictionaryUtils { return false; // todo -- reenable if we want to be really strict here -// if (me.getAttribute(SAMSequenceRecord.MD5_TAG) != null && that.getAttribute(SAMSequenceRecord.MD5_TAG) != null) { -// final BigInteger thisMd5 = new BigInteger((String)me.getAttribute(SAMSequenceRecord.MD5_TAG), 16); -// final BigInteger thatMd5 = new BigInteger((String)that.getAttribute(SAMSequenceRecord.MD5_TAG), 16); +// if (me.getExtendedAttribute(SAMSequenceRecord.MD5_TAG) != null && that.getExtendedAttribute(SAMSequenceRecord.MD5_TAG) != null) { +// final BigInteger thisMd5 = new BigInteger((String)me.getExtendedAttribute(SAMSequenceRecord.MD5_TAG), 16); +// final BigInteger thatMd5 = new BigInteger((String)that.getExtendedAttribute(SAMSequenceRecord.MD5_TAG), 16); // if (!thisMd5.equals(thatMd5)) { // return false; // } diff --git a/public/java/src/org/broadinstitute/sting/utils/Utils.java b/public/java/src/org/broadinstitute/sting/utils/Utils.java index 7b627fba2..17c145dbf 100755 --- a/public/java/src/org/broadinstitute/sting/utils/Utils.java +++ b/public/java/src/org/broadinstitute/sting/utils/Utils.java @@ -223,6 +223,20 @@ public class Utils { return ret.toString(); } + public static String join(String separator, int[] ints) { + if ( ints == null || ints.length == 0) + return ""; + else { + StringBuilder ret = new StringBuilder(); + ret.append(ints[0]); + for (int i = 1; i < ints.length; ++i) { + ret.append(separator); + ret.append(ints[i]); + } + return ret.toString(); + } + } + /** * Returns a string of the form elt1.toString() [sep elt2.toString() ... sep elt.toString()] for a collection of * elti objects (note there's no actual space between sep and the elti elements). Returns diff --git a/public/java/src/org/broadinstitute/sting/utils/activeregion/ActiveRegion.java b/public/java/src/org/broadinstitute/sting/utils/activeregion/ActiveRegion.java index 764be2ac7..18276f932 100644 --- a/public/java/src/org/broadinstitute/sting/utils/activeregion/ActiveRegion.java +++ b/public/java/src/org/broadinstitute/sting/utils/activeregion/ActiveRegion.java @@ -46,7 +46,7 @@ public class ActiveRegion implements HasGenomeLocation, Comparable } public void hardClipToActiveRegion() { - final ArrayList clippedReads = ReadClipper.hardClipToRegion( reads, activeRegionLoc.getStart(), activeRegionLoc.getStop() ); + final ArrayList clippedReads = ReadClipper.hardClipToRegion( reads, extendedLoc.getStart(), extendedLoc.getStop() ); reads.clear(); reads.addAll(clippedReads); } @@ -58,9 +58,9 @@ public class ActiveRegion implements HasGenomeLocation, Comparable } public byte[] getActiveRegionReference( final IndexedFastaSequenceFile referenceReader, final int padding ) { - return referenceReader.getSubsequenceAt( activeRegionLoc.getContig(), - Math.max(1, activeRegionLoc.getStart() - padding), - Math.min(referenceReader.getSequenceDictionary().getSequence(activeRegionLoc.getContig()).getSequenceLength(), activeRegionLoc.getStop() + padding) ).getBases(); + return referenceReader.getSubsequenceAt( extendedLoc.getContig(), + Math.max(1, extendedLoc.getStart() - padding), + Math.min(referenceReader.getSequenceDictionary().getSequence(extendedLoc.getContig()).getSequenceLength(), extendedLoc.getStop() + padding) ).getBases(); } public byte[] getFullReference( final IndexedFastaSequenceFile referenceReader ) { @@ -90,7 +90,7 @@ public class ActiveRegion implements HasGenomeLocation, Comparable public void removeAll( final ArrayList readsToRemove ) { reads.removeAll( readsToRemove ); } public boolean equalExceptReads(final ActiveRegion other) { - if ( ! activeRegionLoc.equals(other.activeRegionLoc)) return false; + if ( ! activeRegionLoc.equals(other.activeRegionLoc) ) return false; if ( isActive != other.isActive ) return false; if ( genomeLocParser != other.genomeLocParser ) return false; if ( extension != other.extension ) return false; diff --git a/public/java/src/org/broadinstitute/sting/utils/activeregion/ActivityProfile.java b/public/java/src/org/broadinstitute/sting/utils/activeregion/ActivityProfile.java index 70593bbed..4333e471e 100644 --- a/public/java/src/org/broadinstitute/sting/utils/activeregion/ActivityProfile.java +++ b/public/java/src/org/broadinstitute/sting/utils/activeregion/ActivityProfile.java @@ -158,7 +158,9 @@ public class ActivityProfile { // find the best place to break up the large active region Double minProb = Double.MAX_VALUE; int cutPoint = -1; - for( int iii = curStart + 50; iii < curEnd - 50; iii++ ) { // BUGBUG: assumes maxRegionSize >> 50 + + final int size = curEnd - curStart + 1; + for( int iii = curStart + (int)(size*0.25); iii < curEnd - (int)(size*0.25); iii++ ) { if( isActiveList.get(iii) < minProb ) { minProb = isActiveList.get(iii); cutPoint = iii; } } final List leftList = createActiveRegion(isActive, curStart, cutPoint, activeRegionExtension, maxRegionSize, new ArrayList()); diff --git a/public/java/src/org/broadinstitute/sting/utils/classloader/GATKLiteUtils.java b/public/java/src/org/broadinstitute/sting/utils/classloader/GATKLiteUtils.java new file mode 100755 index 000000000..db9b9d8b7 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/classloader/GATKLiteUtils.java @@ -0,0 +1,85 @@ +/* + * Copyright (c) 2010 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.classloader; + +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.util.*; + +/** + * Created by IntelliJ IDEA. + * User: ebanks + * + * A set of static utility methods for working with the full vs. Lite GATK build + */ +public class GATKLiteUtils { + /** + * Constructor access disallowed...static utility methods only! + */ + private GATKLiteUtils() { } + + /** + * Utility method to determine whether this is the lite version of the GATK + */ + public static boolean isGATKLite() { + if ( isLiteVersion == null ) { + try { + Class.forName(DummyProtectedClassName); + isLiteVersion = false; + } catch ( ClassNotFoundException e) { + isLiteVersion = true; + } + } + return isLiteVersion; + } + private static final String DummyProtectedClassName = "org.broadinstitute.sting.gatk.DummyProtectedClass"; + private static Boolean isLiteVersion = null; + + + /** + * Utility method to pull out a protected subclass if possible, otherwise it falls back to a public subclass. + * Important note: the protected classes MUST implement ProtectedPackageSource! + * + * @param interfaceClass the interface class which the target classes implement + */ + public static Class getProtectedClassIfAvailable(final Class interfaceClass) { + List> classes = new PluginManager(interfaceClass).getPlugins(); + if ( classes.isEmpty() ) + throw new ReviewedStingException("No classes implementing the interface class " + interfaceClass.getSimpleName() + " were found"); + + Class result = null; + for ( Class c : classes ) { + if ( ProtectedPackageSource.class.isAssignableFrom(c) ) { + result = c; + break; + } + } + if ( result == null ) + result = classes.get(0); + + return result; + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/classloader/ProtectedPackageSource.java b/public/java/src/org/broadinstitute/sting/utils/classloader/ProtectedPackageSource.java new file mode 100755 index 000000000..c1da5fb02 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/classloader/ProtectedPackageSource.java @@ -0,0 +1,3 @@ +package org.broadinstitute.sting.utils.classloader; + +public interface ProtectedPackageSource {} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/classloader/PublicPackageSource.java b/public/java/src/org/broadinstitute/sting/utils/classloader/PublicPackageSource.java new file mode 100755 index 000000000..9e2b33aae --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/classloader/PublicPackageSource.java @@ -0,0 +1,3 @@ +package org.broadinstitute.sting.utils.classloader; + +public interface PublicPackageSource {} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/clipping/ClippingOp.java b/public/java/src/org/broadinstitute/sting/utils/clipping/ClippingOp.java index 2e3978ddb..a4383c3ae 100644 --- a/public/java/src/org/broadinstitute/sting/utils/clipping/ClippingOp.java +++ b/public/java/src/org/broadinstitute/sting/utils/clipping/ClippingOp.java @@ -285,7 +285,10 @@ public class ClippingOp { @Requires({"start <= stop", "start == 0 || stop == read.getReadLength() - 1"}) private GATKSAMRecord hardClip(GATKSAMRecord read, int start, int stop) { - if (start == 0 && stop == read.getReadLength() - 1) + final int firstBaseAfterSoftClips = read.getAlignmentStart() - read.getSoftStart(); + final int lastBaseBeforeSoftClips = read.getSoftEnd() - read.getSoftStart(); + + if (start == firstBaseAfterSoftClips && stop == lastBaseBeforeSoftClips) // note that if the read has no soft clips, these constants will be 0 and read length - 1 (beauty of math). return GATKSAMRecord.emptyRead(read); @@ -309,6 +312,7 @@ public class ClippingOp { throw new ReviewedStingException("Where did the clone go?"); } + hardClippedRead.resetSoftStartAndEnd(); // reset the cached soft start and end because they may have changed now that the read was hard clipped. No need to calculate them now. They'll be lazily calculated on the next call to getSoftStart()/End() hardClippedRead.setBaseQualities(newQuals); hardClippedRead.setReadBases(newBases); hardClippedRead.setCigar(cigarShift.cigar); diff --git a/public/java/src/org/broadinstitute/sting/utils/clipping/ReadClipper.java b/public/java/src/org/broadinstitute/sting/utils/clipping/ReadClipper.java index 9e7ee9dac..ba9267222 100644 --- a/public/java/src/org/broadinstitute/sting/utils/clipping/ReadClipper.java +++ b/public/java/src/org/broadinstitute/sting/utils/clipping/ReadClipper.java @@ -3,6 +3,7 @@ package org.broadinstitute.sting.utils.clipping; import com.google.java.contract.Requires; import net.sf.samtools.CigarElement; import net.sf.samtools.CigarOperator; +import org.broadinstitute.sting.gatk.walkers.bqsr.EventType; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; @@ -109,38 +110,32 @@ public class ReadClipper { } /** - * Creates a new read that's been clipped according to ops and the chosen algorithm. - * The original read is unmodified. + * Clips a read according to ops and the chosen algorithm. * * @param algorithm What mode of clipping do you want to apply for the stacked operations. - * @return a new read with the clipping applied. + * @return the read with the clipping applied. */ public GATKSAMRecord clipRead(ClippingRepresentation algorithm) { if (ops == null) return getRead(); - else { - try { - GATKSAMRecord clippedRead = (GATKSAMRecord) read.clone(); - for (ClippingOp op : getOps()) { - //check if the clipped read can still be clipped in the range requested - if (op.start < clippedRead.getReadLength()) { - ClippingOp fixedOperation = op; - if (op.stop >= clippedRead.getReadLength()) - fixedOperation = new ClippingOp(op.start, clippedRead.getReadLength() - 1); - clippedRead = fixedOperation.apply(algorithm, clippedRead); - } - } - wasClipped = true; - ops.clear(); - if ( clippedRead.isEmpty() ) - return GATKSAMRecord.emptyRead(clippedRead); -// return new GATKSAMRecord( clippedRead.getHeader() ); - return clippedRead; - } catch (CloneNotSupportedException e) { - throw new RuntimeException(e); // this should never happen + GATKSAMRecord clippedRead = read; + for (ClippingOp op : getOps()) { + final int readLength = clippedRead.getReadLength(); + //check if the clipped read can still be clipped in the range requested + if (op.start < readLength) { + ClippingOp fixedOperation = op; + if (op.stop >= readLength) + fixedOperation = new ClippingOp(op.start, readLength - 1); + + clippedRead = fixedOperation.apply(algorithm, clippedRead); } } + wasClipped = true; + ops.clear(); + if ( clippedRead.isEmpty() ) + return GATKSAMRecord.emptyRead(clippedRead); + return clippedRead; } @@ -188,7 +183,6 @@ public class ReadClipper { private GATKSAMRecord hardClipByReadCoordinates(int start, int stop) { if (read.isEmpty() || (start == 0 && stop == read.getReadLength() - 1)) return GATKSAMRecord.emptyRead(read); -// return new GATKSAMRecord(read.getHeader()); this.addOp(new ClippingOp(start, stop)); return clipRead(ClippingRepresentation.HARDCLIP_BASES); @@ -213,14 +207,12 @@ public class ReadClipper { private GATKSAMRecord hardClipBothEndsByReferenceCoordinates(int left, int right) { if (read.isEmpty() || left == right) return GATKSAMRecord.emptyRead(read); -// return new GATKSAMRecord(read.getHeader()); GATKSAMRecord leftTailRead = hardClipByReferenceCoordinates(right, -1); // after clipping one tail, it is possible that the consequent hard clipping of adjacent deletions // make the left cut index no longer part of the read. In that case, clip the read entirely. if (left > leftTailRead.getAlignmentEnd()) return GATKSAMRecord.emptyRead(read); -// return new GATKSAMRecord(read.getHeader()); ReadClipper clipper = new ReadClipper(leftTailRead); return clipper.hardClipByReferenceCoordinatesLeftTail(left); @@ -244,20 +236,21 @@ public class ReadClipper { if (read.isEmpty()) return read; - byte [] quals = read.getBaseQualities(); + final byte [] quals = read.getBaseQualities(); + final int readLength = read.getReadLength(); int leftClipIndex = 0; - int rightClipIndex = read.getReadLength() - 1; + int rightClipIndex = readLength - 1; // check how far we can clip both sides while (rightClipIndex >= 0 && quals[rightClipIndex] <= lowQual) rightClipIndex--; - while (leftClipIndex < read.getReadLength() && quals[leftClipIndex] <= lowQual) leftClipIndex++; + while (leftClipIndex < readLength && quals[leftClipIndex] <= lowQual) leftClipIndex++; // if the entire read should be clipped, then return an empty read. if (leftClipIndex > rightClipIndex) return GATKSAMRecord.emptyRead(read); - if (rightClipIndex < read.getReadLength() - 1) { - this.addOp(new ClippingOp(rightClipIndex + 1, read.getReadLength() - 1)); + if (rightClipIndex < readLength - 1) { + this.addOp(new ClippingOp(rightClipIndex + 1, readLength - 1)); } if (leftClipIndex > 0 ) { this.addOp(new ClippingOp(0, leftClipIndex - 1)); @@ -402,17 +395,83 @@ public class ReadClipper { /** * Turns soft clipped bases into matches - * * @return a new read with every soft clip turned into a match */ private GATKSAMRecord revertSoftClippedBases() { - this.addOp(new ClippingOp(0, 0)); // UNSOFTCLIP_BASES doesn't need coordinates + if (read.isEmpty()) + return read; + + this.addOp(new ClippingOp(0, 0)); return this.clipRead(ClippingRepresentation.REVERT_SOFTCLIPPED_BASES); } + + /** + * Reverts ALL soft-clipped bases + * + * @param read the read + * @return the read with all soft-clipped bases turned into matches + */ public static GATKSAMRecord revertSoftClippedBases(GATKSAMRecord read) { return (new ReadClipper(read)).revertSoftClippedBases(); } + /** + * Reverts only soft clipped bases with quality score greater than or equal to minQual + * + * todo -- Note: Will write a temporary field with the number of soft clips that were undone on each side (left: 'SL', right: 'SR') -- THIS HAS BEEN REMOVED TEMPORARILY SHOULD HAPPEN INSIDE THE CLIPPING ROUTINE! + * + * @param read the read + * @param minQual the mininum base quality score to revert the base (inclusive) + * @return a new read with high quality soft clips reverted + */ + public static GATKSAMRecord revertSoftClippedBases(GATKSAMRecord read, byte minQual) { + return revertSoftClippedBases(hardClipLowQualitySoftClips(read, minQual)); + } + + /** + * Hard clips away soft clipped bases that are below the given quality threshold + * + * @param read the read + * @param minQual the mininum base quality score to revert the base (inclusive) + * @return a new read without low quality soft clipped bases + */ + public static GATKSAMRecord hardClipLowQualitySoftClips(GATKSAMRecord read, byte minQual) { + int nLeadingSoftClips = read.getAlignmentStart() - read.getSoftStart(); + if (read.isEmpty() || nLeadingSoftClips > read.getReadLength()) + return GATKSAMRecord.emptyRead(read); + + byte [] quals = read.getBaseQualities(EventType.BASE_SUBSTITUTION); + int left = -1; + + if (nLeadingSoftClips > 0) { + for (int i = nLeadingSoftClips - 1; i >= 0; i--) { + if (quals[i] >= minQual) + left = i; + else + break; + } + } + + int right = -1; + int nTailingSoftClips = read.getSoftEnd() - read.getAlignmentEnd(); + if (nTailingSoftClips > 0) { + for (int i = read.getReadLength() - nTailingSoftClips; i < read.getReadLength() ; i++) { + if (quals[i] >= minQual) + right = i; + else + break; + } + } + + GATKSAMRecord clippedRead = read; + if (right >= 0 && right + 1 < clippedRead.getReadLength()) // only clip if there are softclipped bases (right >= 0) and the first high quality soft clip is not the last base (right+1 < readlength) + clippedRead = hardClipByReadCoordinates(clippedRead, right+1, clippedRead.getReadLength()-1); // first we hard clip the low quality soft clips on the right tail + if (left >= 0 && left - 1 > 0) // only clip if there are softclipped bases (left >= 0) and the first high quality soft clip is not the last base (left-1 > 0) + clippedRead = hardClipByReadCoordinates(clippedRead, 0, left-1); // then we hard clip the low quality soft clips on the left tail + + return clippedRead; + } + /** * Generic functionality to hard clip a read, used internally by hardClipByReferenceCoordinatesLeftTail * and hardClipByReferenceCoordinatesRightTail. Should not be used directly. @@ -446,9 +505,6 @@ public class ReadClipper { stop = read.getReadLength() - 1; } -// if ((start == 0 && stop == read.getReadLength() - 1)) -// return GATKSAMRecord.emptyRead(read); - if (start < 0 || stop > read.getReadLength() - 1) throw new ReviewedStingException("Trying to clip before the start or after the end of a read"); diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Codec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Codec.java new file mode 100644 index 000000000..18b4d0b6c --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Codec.java @@ -0,0 +1,520 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.codecs.bcf2; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import net.sf.samtools.SAMSequenceRecord; +import org.apache.log4j.Logger; +import org.broad.tribble.Feature; +import org.broad.tribble.FeatureCodec; +import org.broad.tribble.FeatureCodecHeader; +import org.broad.tribble.readers.AsciiLineReader; +import org.broad.tribble.readers.PositionalBufferedStream; +import org.broadinstitute.sting.gatk.refdata.ReferenceDependentFeatureCodec; +import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.variantcontext.*; + +import java.io.ByteArrayInputStream; +import java.io.FileInputStream; +import java.io.FileNotFoundException; +import java.io.IOException; +import java.util.*; + +/** + * Decode BCF2 files + */ +public final class BCF2Codec implements FeatureCodec, ReferenceDependentFeatureCodec { + final protected static Logger logger = Logger.getLogger(BCF2Codec.class); + private final static boolean FORBID_SYMBOLICS = false; + + private VCFHeader header = null; + + /** + * Maps offsets (encoded in BCF) into contig names (from header) for the CHROM field + */ + private final ArrayList contigNames = new ArrayList(); + + /** + * Maps header string names (encoded in VCF) into strings found in the BCF header + * + * Initialized when processing the header + */ + private ArrayList dictionary; + + /** + * Our decoder that reads low-level objects from the BCF2 records + */ + private final BCF2Decoder decoder = new BCF2Decoder(); + + /** + * Provides some sanity checking on the header + */ + private final static int MAX_HEADER_SIZE = 0x08000000; + + /** + * Genotype field decoders that are initialized when the header is read + */ + private BCF2GenotypeFieldDecoders gtFieldDecoders = null; + + /** + * A cached array of GenotypeBuilders for efficient genotype decoding. + * + * Caching it allows us to avoid recreating this intermediate data + * structure each time we decode genotypes + */ + private GenotypeBuilder[] builders = null; + + // for error handling + private int recordNo = 0; + private int pos = 0; + + + // ---------------------------------------------------------------------- + // + // Feature codec interface functions + // + // ---------------------------------------------------------------------- + + @Override + public Feature decodeLoc( final PositionalBufferedStream inputStream ) { + return decode(inputStream); + } + + @Override + public VariantContext decode( final PositionalBufferedStream inputStream ) { + recordNo++; + final VariantContextBuilder builder = new VariantContextBuilder(); + + final int sitesBlockSize = decoder.readBlockSize(inputStream); + final int genotypeBlockSize = decoder.readBlockSize(inputStream); + decoder.readNextBlock(sitesBlockSize, inputStream); + decodeSiteLoc(builder); + final SitesInfoForDecoding info = decodeSitesExtendedInfo(builder); + + decoder.readNextBlock(genotypeBlockSize, inputStream); + createLazyGenotypesDecoder(info, builder); + return builder.fullyDecoded(true).make(); + } + + @Override + public Class getFeatureType() { + return VariantContext.class; + } + + @Override + public FeatureCodecHeader readHeader( final PositionalBufferedStream inputStream ) { + try { + // note that this reads the magic as well, and so does double duty + if ( ! BCF2Utils.startsWithBCF2Magic(inputStream) ) + error("Input stream does not begin with BCF2 magic"); + + final int headerSizeInBytes = BCF2Utils.readInt(BCF2Type.INT32.getSizeInBytes(), inputStream); + + if ( headerSizeInBytes <= 0 || headerSizeInBytes > MAX_HEADER_SIZE) // no bigger than 8 MB + error("BCF2 header has invalid length: " + headerSizeInBytes + " must be >= 0 and < "+ MAX_HEADER_SIZE); + + final byte[] headerBytes = new byte[headerSizeInBytes]; + if ( inputStream.read(headerBytes) != headerSizeInBytes ) + error("Couldn't read all of the bytes specified in the header length = " + headerSizeInBytes); + + final PositionalBufferedStream bps = new PositionalBufferedStream(new ByteArrayInputStream(headerBytes)); + final AsciiLineReader headerReader = new AsciiLineReader(bps); + final VCFCodec headerParser = new VCFCodec(); + this.header = (VCFHeader)headerParser.readHeader(headerReader); + bps.close(); + } catch ( IOException e ) { + throw new UserException.CouldNotReadInputFile("I/O error while reading BCF2 header"); + } + + // create the config offsets + if ( ! header.getContigLines().isEmpty() ) { + logger.info("Found contig lines in BCF2 file, using those"); + contigNames.clear(); + for ( final VCFContigHeaderLine contig : header.getContigLines()) { + if ( contig.getID() == null || contig.getID().equals("") ) + error("found a contig with an invalid ID " + contig); + contigNames.add(contig.getID()); + } + } else { + logger.info("Didn't find any contig lines in BCF2 file, falling back (dangerously) to GATK reference dictionary"); + } + + // create the string dictionary + dictionary = parseDictionary(header); + + // prepare the genotype field decoders + gtFieldDecoders = new BCF2GenotypeFieldDecoders(header); + + // create and initialize the genotype builder array + final int nSamples = header.getNGenotypeSamples(); + builders = new GenotypeBuilder[nSamples]; + for ( int i = 0; i < nSamples; i++ ) { + builders[i] = new GenotypeBuilder(header.getGenotypeSamples().get(i)); + } + + // position right before next line (would be right before first real record byte at end of header) + return new FeatureCodecHeader(header, inputStream.getPosition()); + } + + @Override + public boolean canDecode( final String path ) { + FileInputStream fis = null; + try { + fis = new FileInputStream(path); + return BCF2Utils.startsWithBCF2Magic(fis); + } catch ( FileNotFoundException e ) { + return false; + } catch ( IOException e ) { + return false; + } finally { + try { + if ( fis != null ) fis.close(); + } catch ( IOException e ) { + ; // do nothing + } + } + } + + // -------------------------------------------------------------------------------- + // + // Reference dependence + // + // -------------------------------------------------------------------------------- + + @Override + public void setGenomeLocParser(final GenomeLocParser genomeLocParser) { + // initialize contigNames to standard ones in reference + for ( final SAMSequenceRecord contig : genomeLocParser.getContigs().getSequences() ) + contigNames.add(contig.getSequenceName()); + } + + // -------------------------------------------------------------------------------- + // + // implicit block + // + // The first four records of BCF are inline untype encoded data of: + // + // 4 byte integer chrom offset + // 4 byte integer start + // 4 byte integer ref length + // 4 byte float qual + // + // -------------------------------------------------------------------------------- + + /** + * Decode the sites level data from this classes decoder + * + * @param builder + * @return + */ + @Requires({"builder != null"}) + private final void decodeSiteLoc(final VariantContextBuilder builder) { + final int contigOffset = decoder.decodeInt(BCF2Type.INT32); + final String contig = lookupContigName(contigOffset); + builder.chr(contig); + + this.pos = decoder.decodeInt(BCF2Type.INT32) + 1; // GATK is one based, BCF2 is zero-based + final int refLength = decoder.decodeInt(BCF2Type.INT32); + builder.start((long)pos); + builder.stop((long)(pos + refLength - 1)); // minus one because GATK has closed intervals but BCF2 is open + } + + /** + * Decode the sites level data from this classes decoder + * + * @param builder + * @return + */ + @Requires({"builder != null", "decoder != null"}) + @Ensures({"result != null", "result.isValid()"}) + private final SitesInfoForDecoding decodeSitesExtendedInfo(final VariantContextBuilder builder) { + final Object qual = decoder.decodeSingleValue(BCF2Type.FLOAT); + if ( qual != null ) { + builder.log10PError(((Double)qual) / -10.0); + } + + final int nAlleleInfo = decoder.decodeInt(BCF2Type.INT32); + final int nFormatSamples = decoder.decodeInt(BCF2Type.INT32); + final int nAlleles = nAlleleInfo >> 16; + final int nInfo = nAlleleInfo & 0x0000FFFF; + final int nFormatFields = nFormatSamples >> 24; + final int nSamples = nFormatSamples & 0x00FFFFF; + + if ( header.getNGenotypeSamples() != nSamples ) + throw new UserException.MalformedBCF2("GATK currently doesn't support reading BCF2 files with " + + "different numbers of samples per record. Saw " + header.getNGenotypeSamples() + + " samples in header but have a record with " + nSamples + " samples"); + + decodeID(builder); + final List alleles = decodeAlleles(builder, pos, nAlleles); + decodeFilter(builder); + decodeInfo(builder, nInfo); + + final SitesInfoForDecoding info = new SitesInfoForDecoding(nFormatFields, nSamples, alleles); + if ( ! info.isValid() ) + error("Sites info is malformed: " + info); + return info; + } + + protected final static class SitesInfoForDecoding { + final int nFormatFields; + final int nSamples; + final List alleles; + + private SitesInfoForDecoding(final int nFormatFields, final int nSamples, final List alleles) { + this.nFormatFields = nFormatFields; + this.nSamples = nSamples; + this.alleles = alleles; + } + + public boolean isValid() { + return nFormatFields >= 0 && + nSamples >= 0 && + alleles != null && ! alleles.isEmpty() && alleles.get(0).isReference(); + } + + @Override + public String toString() { + return String.format("nFormatFields = %d, nSamples = %d, alleles = %s", nFormatFields, nSamples, alleles); + } + } + + /** + * Decode the id field in this BCF2 file and store it in the builder + * @param builder + */ + private void decodeID( final VariantContextBuilder builder ) { + final String id = (String)decoder.decodeTypedValue(); + + if ( id == null ) + builder.noID(); + else + builder.id(id); + } + + /** + * Annoying routine that deals with allele clipping from the BCF2 encoding to the standard + * GATK encoding. + * + * @param position + * @param ref + * @param unclippedAlleles + * @return + */ + @Requires({"position > 0", "ref != null && ref.length() > 0", "! unclippedAlleles.isEmpty()"}) + @Ensures("result.size() == unclippedAlleles.size()") + protected List clipAllelesIfNecessary(final int position, + final String ref, + final List unclippedAlleles) { + // the last argument of 1 allows us to safely ignore the end, because we are + // ultimately going to use the end in the record itself + final VCFAlleleClipper.ClippedAlleles clipped = VCFAlleleClipper.clipAlleles(position, ref, unclippedAlleles, 1); + if ( clipped.getError() != null ) error(clipped.getError()); + return clipped.getClippedAlleles(); + } + + /** + * Decode the alleles from this BCF2 file and put the results in builder + * @param builder + * @param pos + * @param nAlleles + * @return the alleles + */ + @Requires("nAlleles > 0") + private List decodeAlleles( final VariantContextBuilder builder, final int pos, final int nAlleles ) { + // TODO -- probably need inline decoder for efficiency here (no sense in going bytes -> string -> vector -> bytes + List alleles = new ArrayList(nAlleles); + String ref = null; + + for ( int i = 0; i < nAlleles; i++ ) { + final String alleleBases = (String)decoder.decodeTypedValue(); + + final boolean isRef = i == 0; + final Allele allele = Allele.create(alleleBases, isRef); + if ( isRef ) ref = alleleBases; + + alleles.add(allele); + + if ( FORBID_SYMBOLICS && allele.isSymbolic() ) + throw new ReviewedStingException("LIMITATION: GATK BCF2 codec does not yet support symbolic alleles"); + } + assert ref != null; + + alleles = clipAllelesIfNecessary(pos, ref, alleles); + builder.alleles(alleles); + + assert ref.length() > 0; + builder.referenceBaseForIndel(ref.getBytes()[0]); + + return alleles; + } + + /** + * Decode the filter field of this BCF2 file and store the result in the builder + * @param builder + */ + private void decodeFilter( final VariantContextBuilder builder ) { + final Object value = decoder.decodeTypedValue(); + + if ( value == null ) + builder.unfiltered(); + else { + if ( value instanceof Integer ) { + // fast path for single integer result + final String filterString = getDictionaryString((Integer)value); + if ( VCFConstants.PASSES_FILTERS_v4.equals(filterString)) + builder.passFilters(); + else + builder.filter(filterString); + } else { + for ( final int offset : (List)value ) + builder.filter(getDictionaryString(offset)); + } + } + } + + /** + * Loop over the info field key / value pairs in this BCF2 file and decode them into the builder + * + * @param builder + * @param numInfoFields + */ + @Requires("numInfoFields >= 0") + private void decodeInfo( final VariantContextBuilder builder, final int numInfoFields ) { + if ( numInfoFields == 0 ) + // fast path, don't bother doing any work if there are no fields + return; + + final Map infoFieldEntries = new HashMap(numInfoFields); + for ( int i = 0; i < numInfoFields; i++ ) { + final String key = getDictionaryString(); + Object value = decoder.decodeTypedValue(); + final VCFCompoundHeaderLine metaData = VariantContextUtils.getMetaDataForField(header, key); + if ( metaData.getType() == VCFHeaderLineType.Flag ) value = true; // special case for flags + infoFieldEntries.put(key, value); + } + + builder.attributes(infoFieldEntries); + } + + // -------------------------------------------------------------------------------- + // + // Decoding Genotypes + // + // -------------------------------------------------------------------------------- + + /** + * Create the lazy loader for the genotypes data, and store it in the builder + * so that the VC will be able to decode on demand the genotypes data + * + * @param siteInfo + * @param builder + */ + private void createLazyGenotypesDecoder( final SitesInfoForDecoding siteInfo, + final VariantContextBuilder builder ) { + if (siteInfo.nSamples > 0) { + final LazyGenotypesContext.LazyParser lazyParser = + new BCF2LazyGenotypesDecoder(this, siteInfo.alleles, siteInfo.nSamples, siteInfo.nFormatFields, builders); + + LazyGenotypesContext lazy = new LazyGenotypesContext(lazyParser, + new LazyData(siteInfo.nFormatFields, decoder.getRecordBytes()), + header.getNGenotypeSamples()); + + // did we resort the sample names? If so, we need to load the genotype data + if ( !header.samplesWereAlreadySorted() ) + lazy.decode(); + + builder.genotypesNoValidation(lazy); + } + } + + public static class LazyData { + final public int nGenotypeFields; + final public byte[] bytes; + + @Requires({"nGenotypeFields > 0", "bytes != null"}) + public LazyData(final int nGenotypeFields, final byte[] bytes) { + this.nGenotypeFields = nGenotypeFields; + this.bytes = bytes; + } + } + + @Ensures("result != null") + private final String getDictionaryString() { + return getDictionaryString((Integer) decoder.decodeTypedValue()); + } + + @Requires("offset < dictionary.size()") + @Ensures("result != null") + protected final String getDictionaryString(final int offset) { + return dictionary.get(offset); + } + + /** + * Translate the config offset as encoded in the BCF file into the actual string + * name of the contig from the dictionary + * + * @param contigOffset + * @return + */ + @Requires({"contigOffset >= 0", "contigOffset < contigNames.size()"}) + @Ensures("result != null") + private final String lookupContigName( final int contigOffset ) { + return contigNames.get(contigOffset); + } + + @Requires("header != null") + @Ensures({"result != null", "! result.isEmpty()"}) + private final ArrayList parseDictionary(final VCFHeader header) { + final ArrayList dict = BCF2Utils.makeDictionary(header); + + // if we got here we never found a dictionary, or there are no elements in the dictionary + if ( dict.isEmpty() ) + error("Dictionary header element was absent or empty"); + + return dict; + } + + /** + * @return the VCFHeader we found in this BCF2 file + */ + protected VCFHeader getHeader() { + return header; + } + + @Requires("field != null") + @Ensures("result != null") + protected BCF2GenotypeFieldDecoders.Decoder getGenotypeFieldDecoder(final String field) { + return gtFieldDecoders.getDecoder(field); + } + + private final void error(final String message) throws RuntimeException { + throw new UserException.MalformedBCF2(String.format("At record %d with position %d:", recordNo, pos, message)); + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Decoder.java b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Decoder.java new file mode 100644 index 000000000..a13be21c5 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Decoder.java @@ -0,0 +1,351 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.codecs.bcf2; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import org.apache.log4j.Logger; +import org.broad.tribble.FeatureCodec; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; + +import java.io.ByteArrayInputStream; +import java.io.IOException; +import java.io.InputStream; +import java.util.ArrayList; +import java.util.Arrays; + +public final class BCF2Decoder { + final protected static Logger logger = Logger.getLogger(FeatureCodec.class); + + byte[] recordBytes = null; + ByteArrayInputStream recordStream = null; + + public BCF2Decoder() { + // nothing to do + } + + /** + * Create a new decoder ready to read BCF2 data from the byte[] recordBytes, for testing purposes + * + * @param recordBytes + */ + protected BCF2Decoder(final byte[] recordBytes) { + setRecordBytes(recordBytes); + } + + // ---------------------------------------------------------------------- + // + // Routines to load, set, skip blocks of underlying data we are decoding + // + // ---------------------------------------------------------------------- + + /** + * Reads the next record from input stream and prepare this decoder to decode values from it + * + * @param stream + * @return + */ + public void readNextBlock(final int blockSizeInBytes, final InputStream stream) { + if ( blockSizeInBytes < 0 ) throw new UserException.MalformedBCF2("Invalid block size " + blockSizeInBytes); + setRecordBytes(readRecordBytes(blockSizeInBytes, stream)); + } + + /** + * Skips the next record from input stream, invalidating current block data + * + * @param stream + * @return + */ + public void skipNextBlock(final int blockSizeInBytes, final InputStream stream) { + try { + final int bytesRead = (int)stream.skip(blockSizeInBytes); + validateReadBytes(bytesRead, blockSizeInBytes); + } catch ( IOException e ) { + throw new UserException.CouldNotReadInputFile("I/O error while reading BCF2 file", e); + } + this.recordBytes = null; + this.recordStream = null; + } + + /** + * Returns the byte[] for the block of data we are currently decoding + * @return + */ + public byte[] getRecordBytes() { + return recordBytes; + } + + /** + * The size of the current block in bytes + * + * @return + */ + public int getBlockSize() { + return recordBytes.length; + } + + public boolean blockIsFullyDecoded() { + return recordStream.available() == 0; + } + + /** + * Use the recordBytes[] to read BCF2 records from now on + * + * @param recordBytes + */ + @Requires("recordBytes != null") + @Ensures({"this.recordBytes == recordBytes", "recordStream != null"}) + public void setRecordBytes(final byte[] recordBytes) { + this.recordBytes = recordBytes; + this.recordStream = new ByteArrayInputStream(recordBytes); + } + + // ---------------------------------------------------------------------- + // + // High-level decoder + // + // ---------------------------------------------------------------------- + + public final Object decodeTypedValue() { + final byte typeDescriptor = readTypeDescriptor(); + return decodeTypedValue(typeDescriptor); + } + + public final Object decodeTypedValue(final byte typeDescriptor) { + final int size = decodeNumberOfElements(typeDescriptor); + return decodeTypedValue(typeDescriptor, size); + } + + @Requires("size >= 0") + public final Object decodeTypedValue(final byte typeDescriptor, final int size) { + if ( size == 0 ) { + // missing value => null in java + return null; + } else { + final BCF2Type type = BCF2Utils.decodeType(typeDescriptor); + if ( type == BCF2Type.CHAR ) { // special case string decoding for efficiency + return decodeLiteralString(size); + } else if ( size == 1 ) { + return decodeSingleValue(type); + } else { + final ArrayList ints = new ArrayList(size); + for ( int i = 0; i < size; i++ ) { + final Object val = decodeSingleValue(type); + if ( val == null ) continue; // auto-pruning. We remove trailing nulls + ints.add(val); + } + return ints.isEmpty() ? null : ints; // return null when all of the values are null + } + } + } + + public final Object decodeSingleValue(final BCF2Type type) { + // TODO -- decodeTypedValue should integrate this routine + final int value = decodeInt(type); + + if ( value == type.getMissingBytes() ) + return null; + else { + switch (type) { + case INT8: + case INT16: + case INT32: return value; + case FLOAT: return rawFloatToFloat(value); + case CHAR: return value & 0xFF; // TODO -- I cannot imagine why we'd get here, as string needs to be special cased + default: throw new ReviewedStingException("BCF2 codec doesn't know how to decode type " + type ); + } + } + } + + // ---------------------------------------------------------------------- + // + // Decode raw primitive data types (ints, floats, and strings) + // + // ---------------------------------------------------------------------- + + private final Object decodeLiteralString(final int size) { + assert size > 0; + + // TODO -- assumes size > 0 + final byte[] bytes = new byte[size]; // TODO -- in principle should just grab bytes from underlying array + try { + recordStream.read(bytes); + + int goodLength = 0; + for ( ; goodLength < bytes.length ; goodLength++ ) + if ( bytes[goodLength] == 0 ) break; + + if ( goodLength == 0 ) + return null; + else { + final String s = new String(bytes, 0, goodLength); + return BCF2Utils.isCollapsedString(s) ? BCF2Utils.exploreStringList(s) : s; + } + } catch ( IOException e ) { + throw new ReviewedStingException("readByte failure", e); + } + } + + @Ensures("result >= 0") + public final int decodeNumberOfElements(final byte typeDescriptor) { + if ( BCF2Utils.sizeIsOverflow(typeDescriptor) ) + // -1 ensures we explode immediately with a bad size if the result is missing + return decodeInt(readTypeDescriptor(), -1); + else + // the size is inline, so just decode it + return BCF2Utils.decodeSize(typeDescriptor); + } + + /** + * Decode an int from the stream. If the value in the stream is missing, + * returns missingValue. Requires the typeDescriptor indicate an inline + * single element event + * + * @param typeDescriptor + * @return + */ + @Requires("BCF2Utils.decodeSize(typeDescriptor) == 1") + public final int decodeInt(final byte typeDescriptor, final int missingValue) { + final BCF2Type type = BCF2Utils.decodeType(typeDescriptor); + final int i = decodeInt(type); + return i == type.getMissingBytes() ? missingValue : i; + } + + @Requires("type != null") + public final int decodeInt(final BCF2Type type) { + return BCF2Utils.readInt(type.getSizeInBytes(), recordStream); + } + + /** + * Low-level reader for int[] + * + * Requires a typeDescriptor so the function knows how many elements to read, + * and how they are encoded. + * + * If size == 0 => result is null + * If size > 0 => result depends on the actual values in the stream + * -- If the first element read is MISSING, result is null (all values are missing) + * -- Else result = int[N] where N is the first N non-missing values decoded + * + * @param maybeDest if not null we'll not allocate space for the vector, but instead use + * the externally allocated array of ints to store values. If the + * size of this vector is < the actual size of the elements, we'll be + * forced to use freshly allocated arrays. Also note that padded + * int elements are still forced to do a fresh allocation as well. + * @return see description + */ + @Requires({"type != null", "type.isIntegerType()", "size >= 0"}) + public final int[] decodeIntArray(final int size, final BCF2Type type, int[] maybeDest) { + if ( size == 0 ) { + return null; + } else { + if ( maybeDest != null && maybeDest.length < size ) + maybeDest = null; // by nulling this out we ensure that we do fresh allocations as maybeDest is too small + + final int val1 = decodeInt(type); + if ( val1 == type.getMissingBytes() ) { + // fast path for first element being missing + for ( int i = 1; i < size; i++ ) decodeInt(type); + return null; + } else { + // we know we will have at least 1 element, so making the int[] is worth it + final int[] ints = maybeDest == null ? new int[size] : maybeDest; + ints[0] = val1; // we already read the first one + for ( int i = 1; i < size; i++ ) { + ints[i] = decodeInt(type); + if ( ints[i] == type.getMissingBytes() ) { + // read the rest of the missing values, dropping them + for ( int j = i + 1; j < size; j++ ) decodeInt(type); + // deal with auto-pruning by returning an int[] containing + // only the non-MISSING values. We do this by copying the first + // i elements, as i itself is missing + return Arrays.copyOf(ints, i); + } + } + return ints; // all of the elements were non-MISSING + } + } + } + + public final int[] decodeIntArray(final byte typeDescriptor, final int size) { + final BCF2Type type = BCF2Utils.decodeType(typeDescriptor); + return decodeIntArray(size, type, null); + } + + public final double rawFloatToFloat(final int rawFloat) { + return (double)Float.intBitsToFloat(rawFloat); + } + + // ---------------------------------------------------------------------- + // + // Utility functions + // + // ---------------------------------------------------------------------- + + /** + * Read the size of the next block from inputStream + * + * @param inputStream + * @return + */ + public final int readBlockSize(final InputStream inputStream) { + return BCF2Utils.readInt(4, inputStream); + } + + /** + * + * @param inputStream + * @return + */ + private final static byte[] readRecordBytes(final int blockSizeInBytes, final InputStream inputStream) { + assert blockSizeInBytes >= 0; + + final byte[] record = new byte[blockSizeInBytes]; + try { + final int bytesRead = inputStream.read(record); + validateReadBytes(bytesRead, blockSizeInBytes); + } catch ( IOException e ) { + throw new UserException.CouldNotReadInputFile("I/O error while reading BCF2 file", e); + } + + return record; + } + + private final static void validateReadBytes(final int actuallyRead, final int expected) { + assert expected >= 0; + + if ( actuallyRead < expected ) { + throw new UserException.MalformedBCF2(String.format("Failed to read next complete record: %s", + actuallyRead == -1 ? + "premature end of input stream" : + String.format("expected %d bytes but read only %d", expected, actuallyRead))); + } + } + + public final byte readTypeDescriptor() { + return BCF2Utils.readByte(recordStream); + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2GenotypeFieldDecoders.java b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2GenotypeFieldDecoders.java new file mode 100644 index 000000000..0dadc49f9 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2GenotypeFieldDecoders.java @@ -0,0 +1,284 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.codecs.bcf2; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import org.apache.log4j.Logger; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder; + +import java.util.*; + +/** + * An efficient scheme for building and obtaining specialized + * genotype field decoders. Used by the BCFCodec to parse + * with little overhead the fields from BCF2 encoded genotype + * records + * + * @author Mark DePristo + * @since 6/12 + */ +public class BCF2GenotypeFieldDecoders { + final protected static Logger logger = Logger.getLogger(BCF2GenotypeFieldDecoders.class); + private final static boolean ENABLE_FASTPATH_GT = true; + private final static int MIN_SAMPLES_FOR_FASTPATH_GENOTYPES = 0; // TODO -- update to reasonable number + + // initialized once per writer to allow parallel writers to work + private final HashMap genotypeFieldDecoder = new HashMap(); + private final Decoder defaultDecoder = new GenericDecoder(); + + public BCF2GenotypeFieldDecoders(final VCFHeader header) { + // TODO -- fill in appropriate decoders for each FORMAT field in the header + + genotypeFieldDecoder.put(VCFConstants.GENOTYPE_KEY, new GTDecoder()); + // currently the generic decoder handles FILTER values properly, in so far as we don't tolerate multiple filter field values per genotype + genotypeFieldDecoder.put(VCFConstants.GENOTYPE_FILTER_KEY, new FTDecoder()); + genotypeFieldDecoder.put(VCFConstants.DEPTH_KEY, new DPDecoder()); + genotypeFieldDecoder.put(VCFConstants.GENOTYPE_ALLELE_DEPTHS, new ADDecoder()); + genotypeFieldDecoder.put(VCFConstants.GENOTYPE_PL_KEY, new PLDecoder()); + genotypeFieldDecoder.put(VCFConstants.GENOTYPE_QUALITY_KEY, new GQDecoder()); + } + + // ----------------------------------------------------------------- + // + // Genotype field decoder + // + // ----------------------------------------------------------------- + + /** + * Return decoder appropriate for field, or the generic decoder if no + * specialized one is bound + * @param field the GT field to decode + * @return a non-null decoder + */ + @Requires("field != null") + @Ensures("result != null") + public Decoder getDecoder(final String field) { + final Decoder d = genotypeFieldDecoder.get(field); + return d == null ? defaultDecoder : d; + } + + /** + * Decoder a field (implicit from creation) encoded as + * typeDescriptor in the decoder object in the GenotypeBuilders + * one for each sample in order. + * + * The way this works is that this decode method + * iterates over the builders, decoding a genotype field + * in BCF2 for each sample from decoder. + * + * This system allows us to easily use specialized + * decoders for specific genotype field values. For example, + * we use a special decoder to directly read the BCF2 data for + * the PL field into a int[] rather than the generic List of Integer + */ + public interface Decoder { + @Requires({"siteAlleles != null", "! siteAlleles.isEmpty()", + "field != null", "decoder != null", "gbs != null", "gbs.length != 0"}) + public void decode(final List siteAlleles, + final String field, + final BCF2Decoder decoder, + final byte typeDescriptor, + final int numElements, + final GenotypeBuilder[] gbs); + } + + private class GTDecoder implements Decoder { + @Override + public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) { + if ( ENABLE_FASTPATH_GT && siteAlleles.size() == 2 && numElements == 2 && gbs.length >= MIN_SAMPLES_FOR_FASTPATH_GENOTYPES ) + fastBiallelicDiploidDecode(siteAlleles, decoder, typeDescriptor, gbs); + else { + generalDecode(siteAlleles, numElements, decoder, typeDescriptor, gbs); + } + } + + /** + * fast path for many samples with diploid genotypes + * + * The way this would work is simple. Create a List diploidGenotypes[] object + * After decoding the offset, if that sample is diploid compute the + * offset into the alleles vector which is simply offset = allele0 * nAlleles + allele1 + * if there's a value at diploidGenotypes[offset], use it, otherwise create the genotype + * cache it and use that + * + * Some notes. If there are nAlleles at the site, there are implicitly actually + * n + 1 options including + */ + @Requires("siteAlleles.size() == 2") + @SuppressWarnings({"unchecked"}) + private final void fastBiallelicDiploidDecode(final List siteAlleles, + final BCF2Decoder decoder, + final byte typeDescriptor, + final GenotypeBuilder[] gbs) { + final BCF2Type type = BCF2Utils.decodeType(typeDescriptor); + + final int nPossibleGenotypes = 3 * 3; + final Object allGenotypes[] = new Object[nPossibleGenotypes]; + + for ( final GenotypeBuilder gb : gbs ) { + final int a1 = decoder.decodeInt(type); + final int a2 = decoder.decodeInt(type); + + if ( a1 == type.getMissingBytes() ) { + assert a2 == type.getMissingBytes(); + // no called sample GT = . + gb.alleles(null); + } else if ( a2 == type.getMissingBytes() ) { + gb.alleles(Arrays.asList(getAlleleFromEncoded(siteAlleles, a1))); + } else { + // downshift to remove phase + final int offset = (a1 >> 1) * 3 + (a2 >> 1); + assert offset < allGenotypes.length; + + // TODO -- how can I get rid of this cast? + List gt = (List)allGenotypes[offset]; + if ( gt == null ) { + final Allele allele1 = getAlleleFromEncoded(siteAlleles, a1); + final Allele allele2 = getAlleleFromEncoded(siteAlleles, a2); + gt = Arrays.asList(allele1, allele2); + allGenotypes[offset] = gt; + } + + gb.alleles(gt); + } + + final boolean phased = (a1 & 0x01) == 1; + gb.phased(phased); + } + } + + private final void generalDecode(final List siteAlleles, + final int ploidy, + final BCF2Decoder decoder, + final byte typeDescriptor, + final GenotypeBuilder[] gbs) { + final BCF2Type type = BCF2Utils.decodeType(typeDescriptor); + + // a single cache for the encoded genotypes, since we don't actually need this vector + final int[] tmp = new int[ploidy]; + + for ( final GenotypeBuilder gb : gbs ) { + final int[] encoded = decoder.decodeIntArray(ploidy, type, tmp); + if ( encoded == null ) + // no called sample GT = . + gb.alleles(null); + else { + assert encoded.length > 0; + + // we have at least some alleles to decode + final List gt = new ArrayList(encoded.length); + + // note that the auto-pruning of fields magically handles different + // ploidy per sample at a site + for ( final int encode : encoded ) + gt.add(getAlleleFromEncoded(siteAlleles, encode)); + + gb.alleles(gt); + final boolean phased = (encoded[0] & 0x01) == 1; + gb.phased(phased); + } + } + } + + @Requires({"siteAlleles != null && ! siteAlleles.isEmpty()", "encode >= 0"}) + @Ensures("result != null") + private final Allele getAlleleFromEncoded(final List siteAlleles, final int encode) { + final int offset = encode >> 1; + return offset == 0 ? Allele.NO_CALL : siteAlleles.get(offset - 1); + } + } + + private class DPDecoder implements Decoder { + @Override + public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) { + for ( final GenotypeBuilder gb : gbs ) { + // the -1 is for missing + gb.DP(decoder.decodeInt(typeDescriptor, -1)); + } + } + } + + private class GQDecoder implements Decoder { + @Override + public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) { + for ( final GenotypeBuilder gb : gbs ) { + // the -1 is for missing + gb.GQ(decoder.decodeInt(typeDescriptor, -1)); + } + } + } + + private class ADDecoder implements Decoder { + @Override + public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) { + for ( final GenotypeBuilder gb : gbs ) { + gb.AD(decoder.decodeIntArray(typeDescriptor, numElements)); + } + } + } + + private class PLDecoder implements Decoder { + @Override + public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) { + for ( final GenotypeBuilder gb : gbs ) { + gb.PL(decoder.decodeIntArray(typeDescriptor, numElements)); + } + } + } + + private class GenericDecoder implements Decoder { + @Override + public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) { + for ( final GenotypeBuilder gb : gbs ) { + Object value = decoder.decodeTypedValue(typeDescriptor, numElements); + if ( value != null ) { // don't add missing values + if ( value instanceof List && ((List)value).size() == 1) { + // todo -- I really hate this, and it suggests that the code isn't completely right + // the reason it's here is that it's possible to prune down a vector to a singleton + // value and there we have the contract that the value comes back as an atomic value + // not a vector of size 1 + value = ((List)value).get(0); + } + gb.attribute(field, value); + } + } + } + } + + private class FTDecoder implements Decoder { + @Override + public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) { + for ( final GenotypeBuilder gb : gbs ) { + Object value = decoder.decodeTypedValue(typeDescriptor, numElements); + assert value == null || value instanceof String; + gb.filter((String)value); + } + } + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2LazyGenotypesDecoder.java b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2LazyGenotypesDecoder.java new file mode 100644 index 000000000..35fb2e97a --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2LazyGenotypesDecoder.java @@ -0,0 +1,96 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.codecs.bcf2; + +import com.google.java.contract.Requires; +import org.apache.log4j.Logger; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.variantcontext.*; + +import java.util.*; + +/** + * Lazy version of genotypes decoder for BCF2 genotypes + * + * @author Mark DePristo + * @since 5/12 + */ +class BCF2LazyGenotypesDecoder implements LazyGenotypesContext.LazyParser { + final protected static Logger logger = Logger.getLogger(BCF2LazyGenotypesDecoder.class); + + // the essential information for us to use to decode the genotypes data + // initialized when this lazy decoder is created, as we know all of this from the BCF2Codec + // and its stored here again for code cleanliness + private final BCF2Codec codec; + private final List siteAlleles; + private final int nSamples; + private final int nFields; + private final GenotypeBuilder[] builders; + + @Requires("codec.getHeader().getNGenotypeSamples() == builders.length") + BCF2LazyGenotypesDecoder(final BCF2Codec codec, final List alleles, final int nSamples, + final int nFields, final GenotypeBuilder[] builders) { + this.codec = codec; + this.siteAlleles = alleles; + this.nSamples = nSamples; + this.nFields = nFields; + this.builders = builders; + } + + @Override + public LazyGenotypesContext.LazyData parse(final Object data) { + if ( logger.isDebugEnabled() ) + logger.debug("Decoding BCF genotypes for " + nSamples + " samples with " + nFields + " fields each"); + + // load our byte[] data into the decoder + final BCF2Decoder decoder = new BCF2Decoder(((BCF2Codec.LazyData)data).bytes); + + for ( int i = 0; i < nSamples; i++ ) + builders[i].reset(true); + + for ( int i = 0; i < nFields; i++ ) { + // get the field name + final int offset = (Integer) decoder.decodeTypedValue(); + final String field = codec.getDictionaryString(offset); + + // the type of each element + final byte typeDescriptor = decoder.readTypeDescriptor(); + final int numElements = decoder.decodeNumberOfElements(typeDescriptor); + final BCF2GenotypeFieldDecoders.Decoder fieldDecoder = codec.getGenotypeFieldDecoder(field); + try { + fieldDecoder.decode(siteAlleles, field, decoder, typeDescriptor, numElements, builders); + } catch ( ClassCastException e ) { + throw new UserException.MalformedBCF2("BUG: expected encoding of field " + field + + " inconsistent with the value observed in the decoded value"); + } + } + + final ArrayList genotypes = new ArrayList(nSamples); + for ( final GenotypeBuilder gb : builders ) + genotypes.add(gb.make()); + + return new LazyGenotypesContext.LazyData(genotypes, codec.getHeader().getSampleNamesInOrder(), codec.getHeader().getSampleNameToOffset()); + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Type.java b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Type.java new file mode 100644 index 000000000..49f375b25 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Type.java @@ -0,0 +1,124 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.codecs.bcf2; + +import com.google.java.contract.Requires; + +import java.util.EnumSet; + +/** + * BCF2 types and associated information + * + * @author depristo + * @since 05/12 + */ +public enum BCF2Type { + MISSING(0, 0, 0x00), + INT8 (1, 1, 0xFFFFFF80, -127, 127), // todo -- confirm range + INT16(2, 2, 0xFFFF8000, -32767, 32767), + INT32(3, 4, 0x80000000, -2147483647, 2147483647), + FLOAT(5, 4, 0x7F800001), + CHAR (7, 1, 0x00000000); + + private final int id; + private final Object missingJavaValue; + private final int missingBytes; + private final int sizeInBytes; + private final long minValue, maxValue; + + BCF2Type(final int id) { + this(id, -1, 0, 0, 0); + } + + BCF2Type(final int id, final int sizeInBytes, final int missingBytes) { + this(id, sizeInBytes, missingBytes, 0, 0); + } + + BCF2Type(final int id, final int sizeInBytes, final int missingBytes, final long minValue, final long maxValue) { + this.id = id; + this.sizeInBytes = sizeInBytes; + this.missingJavaValue = null; + this.missingBytes = missingBytes; + this.minValue = minValue; + this.maxValue = maxValue; + } + + /** + * How many bytes are used to represent this type on disk? + * @return + */ + public int getSizeInBytes() { + return sizeInBytes; + } + + /** + * The ID according to the BCF2 specification + * @return + */ + public int getID() { return id; } + + /** + * Can we encode value v in this type, according to its declared range. + * + * Only makes sense for integer values + * + * @param v + * @return + */ + @Requires("this.isIntegerType()") + public final boolean withinRange(final long v) { return v >= minValue && v <= maxValue; } + + /** + * Return the java object (aka null) that is used to represent a missing value for this + * type in Java + * + * @return + */ + public Object getMissingJavaValue() { return missingJavaValue; } + + /** + * The bytes (encoded as an int) that are used to represent a missing value + * for this type in BCF2 + * + * @return + */ + public int getMissingBytes() { return missingBytes; } + + /** + * An enum set of the types that might represent Integer values + */ + private final static EnumSet INTEGERS = EnumSet.of(INT8, INT16, INT32); + + /** + * @return true if this BCF2Type corresponds to the magic "MISSING" type (0x00) + */ + public boolean isMissingType() { + return this == MISSING; + } + + public boolean isIntegerType() { + return INTEGERS.contains(this); + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Utils.java b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Utils.java new file mode 100644 index 000000000..43e933948 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/bcf2/BCF2Utils.java @@ -0,0 +1,352 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.codecs.bcf2; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.io.*; +import java.util.*; + +/** + * Common utilities for working with BCF2 files + * + * Includes convenience methods for encoding, decoding BCF2 type descriptors (size + type) + * + * @author depristo + * @since 5/12 + */ +public final class BCF2Utils { + public static final byte[] MAGIC_HEADER_LINE = "BCF\2".getBytes(); + + public static final int MAX_ALLELES_IN_GENOTYPES = 127; + + public static final int OVERFLOW_ELEMENT_MARKER = 15; + public static final int MAX_INLINE_ELEMENTS = 14; + + public final static BCF2Type[] INTEGER_TYPES_BY_SIZE = new BCF2Type[]{BCF2Type.INT8, BCF2Type.INT16, BCF2Type.INT32}; + public final static BCF2Type[] ID_TO_ENUM; + + static { + int maxID = -1; + for ( BCF2Type v : BCF2Type.values() ) maxID = Math.max(v.getID(), maxID); + ID_TO_ENUM = new BCF2Type[maxID+1]; + for ( BCF2Type v : BCF2Type.values() ) ID_TO_ENUM[v.getID()] = v; + } + + private BCF2Utils() {} + + /** + * Create a strings dictionary from the VCF header + * + * The dictionary is an ordered list of common VCF identifers (FILTER, INFO, and FORMAT) + * fields. + * + * Note that its critical that the list be dedupped and sorted in a consistent manner each time, + * as the BCF2 offsets are encoded relative to this dictionary, and if it isn't determined exactly + * the same way as in the header each time it's very bad + * + * @param header the VCFHeader from which to build the dictionary + * @return a non-null dictionary of elements, may be empty + */ + @Requires("header != null") + @Ensures({"result != null", "new HashSet(result).size() == result.size()"}) + public final static ArrayList makeDictionary(final VCFHeader header) { + final Set seen = new HashSet(); + final ArrayList dict = new ArrayList(); + + boolean sawPASS = false; + // set up the strings dictionary + for ( VCFHeaderLine line : header.getMetaDataInInputOrder() ) { + if ( line instanceof VCFIDHeaderLine && ! (line instanceof VCFContigHeaderLine) ) { + final VCFIDHeaderLine idLine = (VCFIDHeaderLine)line; + if ( ! seen.contains(idLine.getID())) { + sawPASS = sawPASS || idLine.getID().equals(VCFConstants.PASSES_FILTERS_v4); + dict.add(idLine.getID()); + seen.add(idLine.getID()); + } + } + } + + + if ( ! sawPASS ) + dict.add(VCFConstants.PASSES_FILTERS_v4); // special case the special PASS field + + return dict; + } + + @Requires({"nElements >= 0", "type != null"}) + public final static byte encodeTypeDescriptor(final int nElements, final BCF2Type type ) { + int encodeSize = Math.min(nElements, OVERFLOW_ELEMENT_MARKER); + byte typeByte = (byte)((0x0F & encodeSize) << 4 | (type.getID() & 0x0F)); + return typeByte; + } + + @Ensures("result >= 0") + public final static int decodeSize(final byte typeDescriptor) { + return (0xF0 & typeDescriptor) >> 4; + } + + @Ensures("result >= 0") + public final static int decodeTypeID(final byte typeDescriptor) { + return typeDescriptor & 0x0F; + } + + @Ensures("result != null") + public final static BCF2Type decodeType(final byte typeDescriptor) { + return ID_TO_ENUM[decodeTypeID(typeDescriptor)]; + } + + public final static boolean sizeIsOverflow(final byte typeDescriptor) { + return decodeSize(typeDescriptor) == OVERFLOW_ELEMENT_MARKER; + } + + @Requires("nElements >= 0") + public final static boolean willOverflow(final long nElements) { + return nElements > MAX_INLINE_ELEMENTS; + } + + public final static boolean startsWithBCF2Magic(final InputStream stream) throws IOException { + final byte[] magicBytes = new byte[BCF2Utils.MAGIC_HEADER_LINE.length]; + stream.read(magicBytes); + return Arrays.equals(magicBytes, BCF2Utils.MAGIC_HEADER_LINE); + } + + public final static byte readByte(final InputStream stream) { + // TODO -- shouldn't be capturing error here + try { + return (byte)(stream.read() & 0xFF); + } catch ( IOException e ) { + throw new ReviewedStingException("readByte failure", e); + } + } + + /** + * Collapse multiple strings into a comma separated list + * + * ["s1", "s2", "s3"] => ",s1,s2,s3" + * + * @param strings size > 1 list of strings + * @return + */ + @Requires({"strings != null", "strings.size() > 1"}) + @Ensures("result != null") + public static final String collapseStringList(final List strings) { + final StringBuilder b = new StringBuilder(); + for ( final String s : strings ) { + if ( s != null ) { + assert s.indexOf(",") == -1; // no commas in individual strings + b.append(",").append(s); + } + } + return b.toString(); + } + + /** + * Inverse operation of collapseStringList. + * + * ",s1,s2,s3" => ["s1", "s2", "s3"] + * + * + * @param collapsed + * @return + */ + @Requires({"collapsed != null", "isCollapsedString(collapsed)"}) + @Ensures("result != null") + public static final List exploreStringList(final String collapsed) { + assert isCollapsedString(collapsed); + final String[] exploded = collapsed.substring(1).split(","); + return Arrays.asList(exploded); + } + + @Requires("s != null") + public static final boolean isCollapsedString(final String s) { + return s.charAt(0) == ','; + } + + /** + * Returns a good name for a shadow BCF file for vcfFile. + * + * foo.vcf => foo.bcf + * foo.xxx => foo.xxx.bcf + * + * If the resulting BCF file cannot be written, return null. Happens + * when vcfFile = /dev/null for example + * + * @param vcfFile + * @return the BCF + */ + @Requires("vcfFile != null") + public static final File shadowBCF(final File vcfFile) { + final String path = vcfFile.getAbsolutePath(); + if ( path.contains(".vcf") ) + return new File(path.replace(".vcf", ".bcf")); + else { + final File bcf = new File( path + ".bcf" ); + if ( bcf.canRead() ) + return bcf; + else { + try { + // this is the only way to robustly decide if we could actually write to BCF + final FileOutputStream o = new FileOutputStream(bcf); + o.close(); + bcf.delete(); + return bcf; + } catch ( FileNotFoundException e ) { + return null; + } catch ( IOException e ) { + return null; + } + } + } + } + + @Ensures("result.isIntegerType()") + public final static BCF2Type determineIntegerType(final int value) { + for ( final BCF2Type potentialType : INTEGER_TYPES_BY_SIZE) { + if ( potentialType.withinRange(value) ) + return potentialType; + } + + throw new ReviewedStingException("Integer cannot be encoded in allowable range of even INT32: " + value); + } + + @Ensures("result.isIntegerType()") + public final static BCF2Type determineIntegerType(final int[] values) { + // literally a copy of the code below, but there's no general way to unify lists and arrays in java + BCF2Type maxType = BCF2Type.INT8; + for ( final int value : values ) { + final BCF2Type type1 = determineIntegerType(value); + switch ( type1 ) { + case INT8: break; + case INT16: maxType = BCF2Type.INT16; break; + case INT32: return BCF2Type.INT32; // fast path for largest possible value + default: throw new ReviewedStingException("Unexpected integer type " + type1 ); + } + } + return maxType; + } + + /** + * Returns the maximum BCF2 integer size of t1 and t2 + * + * For example, if t1 == INT8 and t2 == INT16 returns INT16 + * + * @param t1 + * @param t2 + * @return + */ + @Requires({"t1.isIntegerType()","t2.isIntegerType()"}) + @Ensures("result.isIntegerType()") + public final static BCF2Type maxIntegerType(final BCF2Type t1, final BCF2Type t2) { + switch ( t1 ) { + case INT8: return t2; + case INT16: return t2 == BCF2Type.INT32 ? t2 : t1; + case INT32: return t1; + default: throw new ReviewedStingException("BUG: unexpected BCF2Type " + t1); + } + } + + @Ensures("result.isIntegerType()") + public final static BCF2Type determineIntegerType(final List values) { + BCF2Type maxType = BCF2Type.INT8; + for ( final int value : values ) { + final BCF2Type type1 = determineIntegerType(value); + switch ( type1 ) { + case INT8: break; + case INT16: maxType = BCF2Type.INT16; break; + case INT32: return BCF2Type.INT32; // fast path for largest possible value + default: throw new ReviewedStingException("Unexpected integer type " + type1 ); + } + } + return maxType; + } + + /** + * Helper function that takes an object and returns a list representation + * of it: + * + * o == null => [] + * o is a list => o + * else => [o] + * + * @param o + * @return + */ + public final static List toList(final Object o) { + if ( o == null ) return Collections.emptyList(); + else if ( o instanceof List ) return (List)o; + else return Collections.singletonList(o); + } + + + @Requires({"stream != null", "bytesForEachInt > 0"}) + public final static int readInt(int bytesForEachInt, final InputStream stream) { + switch ( bytesForEachInt ) { + case 1: { + return (byte)(readByte(stream)); + } case 2: { + final int b2 = readByte(stream) & 0xFF; + final int b1 = readByte(stream) & 0xFF; + return (short)((b1 << 8) | b2); + } case 4: { + final int b4 = readByte(stream) & 0xFF; + final int b3 = readByte(stream) & 0xFF; + final int b2 = readByte(stream) & 0xFF; + final int b1 = readByte(stream) & 0xFF; + return (int)(b1 << 24 | b2 << 16 | b3 << 8 | b4); + } default: throw new ReviewedStingException("Unexpected size during decoding"); + } + } + + public final static void encodeRawBytes(final int value, final BCF2Type type, final OutputStream encodeStream) throws IOException { + switch ( type.getSizeInBytes() ) { + case 1: + encodeStream.write(0xFF & value); + break; + case 2: + encodeStream.write((0x00FF & value)); + encodeStream.write((0xFF00 & value) >> 8); + break; + case 4: + encodeStream.write((0x000000FF & value)); + encodeStream.write((0x0000FF00 & value) >> 8); + encodeStream.write((0x00FF0000 & value) >> 16); + encodeStream.write((0xFF000000 & value) >> 24); + break; + default: + throw new ReviewedStingException("BUG: unexpected type size " + type); + } +// general case for reference +// for ( int i = type.getSizeInBytes() - 1; i >= 0; i-- ) { +// final int shift = i * 8; +// int mask = 0xFF << shift; +// int byteValue = (mask & value) >> shift; +// encodeStream.write(byteValue); +// } + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/beagle/BeagleCodec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/beagle/BeagleCodec.java index e4768fd5b..3f72359fa 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/beagle/BeagleCodec.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/beagle/BeagleCodec.java @@ -25,19 +25,16 @@ package org.broadinstitute.sting.utils.codecs.beagle; */ +import org.broad.tribble.AsciiFeatureCodec; import org.broad.tribble.Feature; import org.broad.tribble.exception.CodecLineParsingException; -import org.broad.tribble.readers.AsciiLineReader; import org.broad.tribble.readers.LineReader; import org.broadinstitute.sting.gatk.refdata.ReferenceDependentFeatureCodec; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; -import java.io.File; -import java.io.FileInputStream; import java.io.IOException; -import java.util.ArrayList; -import java.util.HashMap; +import java.util.*; import java.util.regex.Pattern; /** @@ -63,7 +60,7 @@ import java.util.regex.Pattern; * @author Mark DePristo * @since 2010 */ -public class BeagleCodec implements ReferenceDependentFeatureCodec { +public class BeagleCodec extends AsciiFeatureCodec implements ReferenceDependentFeatureCodec { private String[] header; public enum BeagleReaderType {PROBLIKELIHOOD, GENOTYPES, R2}; private BeagleReaderType readerType; @@ -72,6 +69,7 @@ public class BeagleCodec implements ReferenceDependentFeatureCodec sampleNames; private int expectedTokensPerLine; + private final static Set HEADER_IDs = new HashSet(Arrays.asList("marker", "I")); private static final String delimiterRegex = "\\s+"; @@ -80,25 +78,16 @@ public class BeagleCodec implements ReferenceDependentFeatureCodec getFeatureType() { - return BeagleFeature.class; - } - public BeagleFeature decode(String line) { String[] tokens; @@ -196,7 +180,8 @@ public class BeagleCodec implements ReferenceDependentFeatureCodec { // the minimum number of features in the HapMap file line private static final int minimumFeatureCount = 11; private String headerLine; - /** - * decode the location only - * @param line the input line to decode - * @return a HapMapFeature - */ - public Feature decodeLoc(String line) { - return decode(line); + + public RawHapMapCodec() { + super(RawHapMapFeature.class); } /** @@ -90,7 +85,7 @@ public class RawHapMapCodec extends AbstractFeatureCodec { * @param line the input line to decode * @return a HapMapFeature, with the given fields */ - public Feature decode(String line) { + public RawHapMapFeature decode(String line) { String[] array = line.split("\\s+"); // make sure the split was successful - that we got an appropriate number of fields @@ -113,10 +108,6 @@ public class RawHapMapCodec extends AbstractFeatureCodec { headerLine); } - public Class getFeatureType() { - return RawHapMapFeature.class; - } - public Object readHeader(LineReader reader) { try { headerLine = reader.readLine(); diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/refseq/RefSeqCodec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/refseq/RefSeqCodec.java index cb392f29c..736c989c6 100644 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/refseq/RefSeqCodec.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/refseq/RefSeqCodec.java @@ -1,8 +1,8 @@ package org.broadinstitute.sting.utils.codecs.refseq; +import org.broad.tribble.AsciiFeatureCodec; import org.broad.tribble.Feature; import org.broad.tribble.TribbleException; -import org.broad.tribble.readers.LineReader; import org.broadinstitute.sting.gatk.refdata.ReferenceDependentFeatureCodec; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; @@ -46,13 +46,18 @@ import java.util.ArrayList; * @author Mark DePristo * @since 2010 */ -public class RefSeqCodec implements ReferenceDependentFeatureCodec { +public class RefSeqCodec extends AsciiFeatureCodec implements ReferenceDependentFeatureCodec { /** * The parser to use when resolving genome-wide locations. */ private GenomeLocParser genomeLocParser; private boolean zero_coding_length_user_warned = false; + + public RefSeqCodec() { + super(RefSeqFeature.class); + } + /** * Set the parser to use when resolving genetic data. * @param genomeLocParser The supplied parser. @@ -130,17 +135,4 @@ public class RefSeqCodec implements ReferenceDependentFeatureCodec getFeatureType() { - return RefSeqFeature.class; - } - - public boolean canDecode(final String potentialInput) { return false; } - } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/sampileup/SAMPileupCodec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/sampileup/SAMPileupCodec.java index d9f16c353..f4ba185b4 100644 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/sampileup/SAMPileupCodec.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/sampileup/SAMPileupCodec.java @@ -25,10 +25,9 @@ package org.broadinstitute.sting.utils.codecs.sampileup; -import org.broad.tribble.AbstractFeatureCodec; +import org.broad.tribble.AsciiFeatureCodec; import org.broad.tribble.Feature; import org.broad.tribble.exception.CodecLineParsingException; -import org.broad.tribble.readers.LineReader; import org.broad.tribble.util.ParsingUtils; import java.util.ArrayList; @@ -76,7 +75,7 @@ import static org.broadinstitute.sting.utils.codecs.sampileup.SAMPileupFeature.V * @author Matt Hanna * @since 2009 */ -public class SAMPileupCodec extends AbstractFeatureCodec { +public class SAMPileupCodec extends AsciiFeatureCodec { // the number of tokens we expect to parse from a pileup line private static final int expectedTokenCount = 10; private static final char fldDelim = '\t'; @@ -88,24 +87,8 @@ public class SAMPileupCodec extends AbstractFeatureCodec { private static final String baseT = "T"; private static final String emptyStr = ""; // we will use this for "reference" allele in insertions - /** - * Return the # of header lines for this file. - * - * @param reader the line reader - * @return 0 in this case, we assume no header lines. - */ - public Object readHeader(LineReader reader) { - // we don't require a header line, but it may exist. We'll deal with that above. - return null; - } - - @Override - public Class getFeatureType() { - return SAMPileupFeature.class; - } - - public Feature decodeLoc(String line) { - return decode(line); + public SAMPileupCodec() { + super(SAMPileupFeature.class); } public SAMPileupFeature decode(String line) { @@ -285,5 +268,4 @@ public class SAMPileupCodec extends AbstractFeatureCodec { feature.setPileupBases(baseBuilder.toString()); feature.setPileupQuals(qualBuilder.toString()); } - } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/samread/SAMReadCodec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/samread/SAMReadCodec.java index 0f2b94e63..4459c44f2 100644 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/samread/SAMReadCodec.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/samread/SAMReadCodec.java @@ -27,10 +27,9 @@ package org.broadinstitute.sting.utils.codecs.samread; import net.sf.samtools.Cigar; import net.sf.samtools.TextCigarCodec; import net.sf.samtools.util.StringUtil; -import org.broad.tribble.AbstractFeatureCodec; +import org.broad.tribble.AsciiFeatureCodec; import org.broad.tribble.Feature; import org.broad.tribble.exception.CodecLineParsingException; -import org.broad.tribble.readers.LineReader; import org.broad.tribble.util.ParsingUtils; /** @@ -52,31 +51,14 @@ import org.broad.tribble.util.ParsingUtils; * @author Matt Hanna * @since 2009 */ -public class SAMReadCodec extends AbstractFeatureCodec { +public class SAMReadCodec extends AsciiFeatureCodec { /* SL-XBC:1:10:628:923#0 16 Escherichia_coli_K12 1 37 76M = 1 0 AGCTTTTCATTCTGACTGCAACGGGCAATATGTCTCTGTGTGGATTAAAAAAAGAGTGTCTGATAGCAGCTTCTGA B@>87<;A@?@957:>>@AA@B>@A9AB@B>@A@@@@@A;=AAB@BBBBBCBBBB@>A>:ABB@BAABCB=CA@CB */ // the number of tokens we expect to parse from a read line private static final int expectedTokenCount = 11; - /** - * Return the # of header lines for this file. - * - * @param reader the line reader - * @return 0 in this case, we assume no header lines. The reads file may have a - * header line beginning with '@', but we can ignore that in the decode function. - */ - public Object readHeader(LineReader reader) { - // we don't require a header line, but it may exist. We'll deal with that above. - return null; - } - - @Override - public Class getFeatureType() { - return SAMReadFeature.class; - } - - public Feature decodeLoc(String line) { - return decode(line); + public SAMReadCodec() { + super(SAMReadFeature.class); } /** @@ -131,6 +113,4 @@ public class SAMReadCodec extends AbstractFeatureCodec { bases, qualities); } - - } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/table/BedTableCodec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/table/BedTableCodec.java index fdcc8ed10..5937d1f1f 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/table/BedTableCodec.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/table/BedTableCodec.java @@ -23,7 +23,7 @@ import java.util.Arrays; public class BedTableCodec extends TableCodec implements ReferenceDependentFeatureCodec { @Override - public Feature decode(String line) { + public TableFeature decode(String line) { if (line.startsWith(headerDelimiter) || line.startsWith(commentDelimiter) || line.startsWith(igvHeaderDelimiter)) return null; String[] split = line.split(delimiterRegex); diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/table/TableCodec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/table/TableCodec.java index aa6d7d345..22d754098 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/table/TableCodec.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/table/TableCodec.java @@ -1,6 +1,6 @@ package org.broadinstitute.sting.utils.codecs.table; -import org.broad.tribble.Feature; +import org.broad.tribble.AsciiFeatureCodec; import org.broad.tribble.readers.LineReader; import org.broadinstitute.sting.gatk.refdata.ReferenceDependentFeatureCodec; import org.broadinstitute.sting.utils.GenomeLocParser; @@ -39,7 +39,7 @@ import java.util.Arrays; * @author Mark DePristo * @since 2009 */ -public class TableCodec implements ReferenceDependentFeatureCodec { +public class TableCodec extends AsciiFeatureCodec implements ReferenceDependentFeatureCodec { final static protected String delimiterRegex = "\\s+"; final static protected String headerDelimiter = "HEADER"; final static protected String igvHeaderDelimiter = "track"; @@ -52,6 +52,10 @@ public class TableCodec implements ReferenceDependentFeatureCodec { */ protected GenomeLocParser genomeLocParser; + public TableCodec() { + super(TableFeature.class); + } + /** * Set the parser to use when resolving genetic data. * @param genomeLocParser The supplied parser. @@ -61,14 +65,8 @@ public class TableCodec implements ReferenceDependentFeatureCodec { this.genomeLocParser = genomeLocParser; } - @Override - public Feature decodeLoc(String line) { - return decode(line); - } - - @Override - public Feature decode(String line) { + public TableFeature decode(String line) { if (line.startsWith(headerDelimiter) || line.startsWith(commentDelimiter) || line.startsWith(igvHeaderDelimiter)) return null; String[] split = line.split(delimiterRegex); @@ -77,11 +75,6 @@ public class TableCodec implements ReferenceDependentFeatureCodec { return new TableFeature(genomeLocParser.parseGenomeLoc(split[0]),Arrays.asList(split),header); } - @Override - public Class getFeatureType() { - return TableFeature.class; - } - @Override public Object readHeader(LineReader reader) { String line = ""; @@ -106,7 +99,4 @@ public class TableCodec implements ReferenceDependentFeatureCodec { } return header; } - - public boolean canDecode(final String potentialInput) { return false; } - } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/AbstractVCFCodec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/AbstractVCFCodec.java index 7d39dc789..b3420514b 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/AbstractVCFCodec.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/AbstractVCFCodec.java @@ -1,8 +1,8 @@ package org.broadinstitute.sting.utils.codecs.vcf; import org.apache.log4j.Logger; +import org.broad.tribble.AsciiFeatureCodec; import org.broad.tribble.Feature; -import org.broad.tribble.FeatureCodec; import org.broad.tribble.NameAwareCodec; import org.broad.tribble.TribbleException; import org.broad.tribble.readers.LineReader; @@ -12,21 +12,23 @@ import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.*; -import java.io.*; +import java.io.FileInputStream; +import java.io.FileNotFoundException; +import java.io.IOException; +import java.io.InputStream; import java.util.*; import java.util.zip.GZIPInputStream; -public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { +public abstract class AbstractVCFCodec extends AsciiFeatureCodec implements NameAwareCodec { public final static int MAX_ALLELE_SIZE_BEFORE_WARNING = (int)Math.pow(2, 20); - protected final static Logger log = Logger.getLogger(VCFCodec.class); + protected final static Logger log = Logger.getLogger(AbstractVCFCodec.class); protected final static int NUM_STANDARD_FIELDS = 8; // INFO is the 8th column - protected VCFHeaderVersion version; - // we have to store the list of strings that make up the header until they're needed protected VCFHeader header = null; + protected VCFHeaderVersion version = null; // a mapping of the allele protected Map> alleleMap = new HashMap>(3); @@ -47,12 +49,7 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { protected final String[] locParts = new String[6]; // for performance we cache the hashmap of filter encodings for quick lookup - protected HashMap> filterHash = new HashMap>(); - - // a mapping of the VCF fields to their type, filter fields, and format fields, for quick lookup to validate against - TreeMap infoFields = new TreeMap(); - TreeMap formatFields = new TreeMap(); - Set filterFields = new HashSet(); + protected HashMap> filterHash = new HashMap>(); // we store a name to give to each of the variant contexts we emit protected String name = "Unknown"; @@ -61,6 +58,17 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { protected Map stringCache = new HashMap(); + protected boolean warnedAboutNoEqualsForNonFlag = false; + + /** + * If true, then we'll magically fix up VCF headers on the fly when we read them in + */ + protected boolean doOnTheFlyModifications = true; + + protected AbstractVCFCodec() { + super(VariantContext.class); + } + /** * Creates a LazyParser for a LazyGenotypesContext to use to decode * our genotypes only when necessary. We do this instead of eagarly @@ -91,37 +99,25 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { */ public abstract Object readHeader(LineReader reader); - /** - * create a genotype map - * - * @param str the string - * @param alleles the list of alleles - * @param chr chrom - * @param pos position - * @return a mapping of sample name to genotype object - */ - public abstract LazyGenotypesContext.LazyData createGenotypeMap(String str, List alleles, String chr, int pos); - - /** * parse the filter string, first checking to see if we already have parsed it in a previous attempt * @param filterString the string to parse * @return a set of the filters applied */ - protected abstract Set parseFilters(String filterString); + protected abstract List parseFilters(String filterString); /** - * create a VCF header - * @param headerStrings a list of strings that represent all the ## entries - * @param line the single # line (column names) - * @return the count of header lines + * create a VCF header from a set of header record lines + * + * @param headerStrings a list of strings that represent all the ## and # entries + * @return a VCFHeader object */ - protected Object createHeader(List headerStrings, String line) { + protected VCFHeader parseHeaderFromLines( final List headerStrings, final VCFHeaderVersion version ) { + this.version = version; - headerStrings.add(line); - - Set metaData = new TreeSet(); + Set metaData = new LinkedHashSet(); Set sampleNames = new LinkedHashSet(); + int contigCounter = 0; // iterate over all the passed in strings for ( String str : headerStrings ) { if ( !str.startsWith(VCFHeader.METADATA_INDICATOR) ) { @@ -156,19 +152,16 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { } else { if ( str.startsWith(VCFConstants.INFO_HEADER_START) ) { - final VCFInfoHeaderLine info = new VCFInfoHeaderLine(str.substring(7),version); + final VCFInfoHeaderLine info = new VCFInfoHeaderLine(str.substring(7), version); metaData.add(info); - infoFields.put(info.getID(), info.getType()); } else if ( str.startsWith(VCFConstants.FILTER_HEADER_START) ) { final VCFFilterHeaderLine filter = new VCFFilterHeaderLine(str.substring(9), version); metaData.add(filter); - filterFields.add(filter.getID()); } else if ( str.startsWith(VCFConstants.FORMAT_HEADER_START) ) { final VCFFormatHeaderLine format = new VCFFormatHeaderLine(str.substring(9), version); metaData.add(format); - formatFields.put(format.getID(), format.getType()); } else if ( str.startsWith(VCFConstants.CONTIG_HEADER_START) ) { - final VCFSimpleHeaderLine contig = new VCFSimpleHeaderLine(str.substring(9), version, VCFConstants.CONTIG_HEADER_START.substring(2), null); + final VCFContigHeaderLine contig = new VCFContigHeaderLine(str.substring(9), version, VCFConstants.CONTIG_HEADER_START.substring(2), contigCounter++); metaData.add(contig); } else if ( str.startsWith(VCFConstants.ALT_HEADER_START) ) { final VCFSimpleHeaderLine alt = new VCFSimpleHeaderLine(str.substring(6), version, VCFConstants.ALT_HEADER_START.substring(2), Arrays.asList("ID", "Description")); @@ -181,9 +174,10 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { } } - header = new VCFHeader(metaData, sampleNames); - header.buildVCFReaderMaps(new ArrayList(sampleNames)); - return header; + this.header = new VCFHeader(metaData, sampleNames); + if ( doOnTheFlyModifications ) + this.header = VCFStandardHeaderLines.repairStandardHeaderLines(this.header); + return this.header; } /** @@ -192,81 +186,19 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { * @return a feature, (not guaranteed complete) that has the correct start and stop */ public Feature decodeLoc(String line) { - - // the same line reader is not used for parsing the header and parsing lines, if we see a #, we've seen a header line - if (line.startsWith(VCFHeader.HEADER_INDICATOR)) return null; - - // our header cannot be null, we need the genotype sample names and counts - if (header == null) throw new ReviewedStingException("VCF Header cannot be null when decoding a record"); - - final int nParts = ParsingUtils.split(line, locParts, VCFConstants.FIELD_SEPARATOR_CHAR, true); - - if ( nParts != 6 ) - throw new UserException.MalformedVCF("there aren't enough columns for line " + line, lineNo); - - // get our alleles (because the end position depends on them) - final String ref = getCachedString(locParts[3].toUpperCase()); - final String alts = getCachedString(locParts[4].toUpperCase()); - final List alleles = parseAlleles(ref, alts, lineNo); - - // find out our location - int start = 0; - try { - start = Integer.valueOf(locParts[1]); - } catch (Exception e) { - generateException("the value in the POS field must be an integer but it was " + locParts[1], lineNo); - } - int stop = start; - - // ref alleles don't need to be single bases for monomorphic sites - if ( alleles.size() == 1 ) { - stop = start + alleles.get(0).length() - 1; - } - // we need to parse the INFO field to check for an END tag if it's a symbolic allele - else if ( alleles.size() == 2 && alleles.get(1).isSymbolic() ) { - final String[] extraParts = new String[4]; - final int nExtraParts = ParsingUtils.split(locParts[5], extraParts, VCFConstants.FIELD_SEPARATOR_CHAR, true); - if ( nExtraParts < 3 ) - throw new UserException.MalformedVCF("there aren't enough columns for line " + line, lineNo); - - final Map attrs = parseInfo(extraParts[2]); - try { - stop = attrs.containsKey(VCFConstants.END_KEY) ? Integer.valueOf(attrs.get(VCFConstants.END_KEY).toString()) : start; - } catch (Exception e) { - throw new UserException.MalformedVCF("the END value in the INFO field is not valid for line " + line, lineNo); - } - } - // handle multi-positional events - else if ( !isSingleNucleotideEvent(alleles) ) { - stop = clipAlleles(start, ref, alleles, null, lineNo); - } - - return new VCFLocFeature(locParts[0], start, stop); + return decodeLine(line, false); } - private final static class VCFLocFeature implements Feature { - - final String chr; - final int start, stop; - - private VCFLocFeature(String chr, int start, int stop) { - this.chr = chr; - this.start = start; - this.stop = stop; - } - - public String getChr() { return chr; } - public int getStart() { return start; } - public int getEnd() { return stop; } - } - - /** * decode the line into a feature (VariantContext) * @param line the line * @return a VariantContext */ - public Feature decode(String line) { + public VariantContext decode(String line) { + return decodeLine(line, true); + } + + private final VariantContext decodeLine(final String line, final boolean includeGenotypes) { // the same line reader is not used for parsing the header and parsing lines, if we see a #, we've seen a header line if (line.startsWith(VCFHeader.HEADER_INDICATOR)) return null; @@ -284,15 +216,7 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { throw new UserException.MalformedVCF("there aren't enough columns for line " + line + " (we expected " + (header == null ? NUM_STANDARD_FIELDS : NUM_STANDARD_FIELDS + 1) + " tokens, and saw " + nParts + " )", lineNo); - return parseVCFLine(parts); - } - - protected void generateException(String message) { - throw new UserException.MalformedVCF(message, lineNo); - } - - protected static void generateException(String message, int lineNo) { - throw new UserException.MalformedVCF(message, lineNo); + return parseVCFLine(parts, includeGenotypes); } /** @@ -301,7 +225,7 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { * @param parts the parts split up * @return a variant context object */ - private VariantContext parseVCFLine(String[] parts) { + private VariantContext parseVCFLine(final String[] parts, final boolean includeGenotypes) { VariantContextBuilder builder = new VariantContextBuilder(); builder.source(getName()); @@ -323,41 +247,23 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { else builder.id(parts[2]); - String ref = getCachedString(parts[3].toUpperCase()); - String alts = getCachedString(parts[4].toUpperCase()); + final String ref = getCachedString(parts[3].toUpperCase()); + final String alts = getCachedString(parts[4].toUpperCase()); builder.log10PError(parseQual(parts[5])); - builder.filters(parseFilters(getCachedString(parts[6]))); + + final List filters = parseFilters(getCachedString(parts[6])); + if ( filters != null ) builder.filters(new HashSet(filters)); final Map attrs = parseInfo(parts[7]); builder.attributes(attrs); // get our alleles, filters, and setup an attribute map - List alleles = parseAlleles(ref, alts, lineNo); - - // find out our current location, and clip the alleles down to their minimum length - int stop = pos; - // ref alleles don't need to be single bases for monomorphic sites - if ( alleles.size() == 1 ) { - stop = pos + alleles.get(0).length() - 1; - } - // we need to parse the INFO field to check for an END tag if it's a symbolic allele - else if ( alleles.size() == 2 && alleles.get(1).isSymbolic() && attrs.containsKey(VCFConstants.END_KEY) ) { - try { - stop = Integer.valueOf(attrs.get(VCFConstants.END_KEY).toString()); - } catch (Exception e) { - generateException("the END value in the INFO field is not valid"); - } - } else if ( !isSingleNucleotideEvent(alleles) ) { - ArrayList newAlleles = new ArrayList(); - stop = clipAlleles(pos, ref, alleles, newAlleles, lineNo); - alleles = newAlleles; - } - builder.stop(stop); - builder.alleles(alleles); + final List rawAlleles = parseAlleles(ref, alts, lineNo); + final List alleles = updateBuilderAllelesAndStop(builder, ref, pos, rawAlleles, attrs); // do we have genotyping data - if (parts.length > NUM_STANDARD_FIELDS) { + if (parts.length > NUM_STANDARD_FIELDS && includeGenotypes) { final LazyGenotypesContext.LazyParser lazyParser = new LazyVCFGenotypesParser(alleles, chr, pos); - final int nGenotypes = header.getGenotypeSamples().size(); + final int nGenotypes = header.getNGenotypeSamples(); LazyGenotypesContext lazy = new LazyGenotypesContext(lazyParser, parts[8], nGenotypes); // did we resort the sample names? If so, we need to load the genotype data @@ -378,12 +284,29 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { return vc; } - /** - * - * @return the type of record - */ - public Class getFeatureType() { - return VariantContext.class; + private final List updateBuilderAllelesAndStop(final VariantContextBuilder builder, + final String ref, + final int pos, + final List rawAlleles, + final Map attrs) { + int endForSymbolicAlleles = pos; // by default we use the pos + if ( attrs.containsKey(VCFConstants.END_KEY) ) { + // update stop with the end key if provided + try { + endForSymbolicAlleles = Integer.valueOf(attrs.get(VCFConstants.END_KEY).toString()); + } catch (Exception e) { + generateException("the END value in the INFO field is not valid"); + } + } + + // find out our current location, and clip the alleles down to their minimum length + final VCFAlleleClipper.ClippedAlleles clipped = VCFAlleleClipper.clipAlleles(pos, ref, rawAlleles, endForSymbolicAlleles); + if ( clipped.getError() != null ) + generateException(clipped.getError(), lineNo); + + builder.stop(clipped.getStop()); + builder.alleles(clipped.getClippedAlleles()); + return clipped.getClippedAlleles(); } /** @@ -440,12 +363,17 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { int eqI = infoFieldArray[i].indexOf("="); if ( eqI != -1 ) { key = infoFieldArray[i].substring(0, eqI); - String str = infoFieldArray[i].substring(eqI+1); + String valueString = infoFieldArray[i].substring(eqI+1); // split on the INFO field separator - int infoValueSplitSize = ParsingUtils.split(str, infoValueArray, VCFConstants.INFO_FIELD_ARRAY_SEPARATOR_CHAR, false); + int infoValueSplitSize = ParsingUtils.split(valueString, infoValueArray, VCFConstants.INFO_FIELD_ARRAY_SEPARATOR_CHAR, false); if ( infoValueSplitSize == 1 ) { value = infoValueArray[0]; + final VCFInfoHeaderLine headerLine = header.getInfoHeaderLine(key); + if ( headerLine != null && headerLine.getType() == VCFHeaderLineType.Flag && value.equals("0") ) { + // deal with the case where a flag field has =0, such as DB=0, by skipping the add + continue; + } } else { ArrayList valueList = new ArrayList(infoValueSplitSize); for ( int j = 0; j < infoValueSplitSize; j++ ) @@ -454,9 +382,23 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { } } else { key = infoFieldArray[i]; - value = true; + final VCFInfoHeaderLine headerLine = header.getInfoHeaderLine(key); + if ( headerLine != null && headerLine.getType() != VCFHeaderLineType.Flag ) { + if ( ! warnedAboutNoEqualsForNonFlag ) { + log.warn("Found info key " + key + " without a = value, but the header says the field is of type " + + headerLine.getType() + " but this construct is only value for FLAG type fields"); + warnedAboutNoEqualsForNonFlag = true; + } + + value = VCFConstants.MISSING_VALUE_v4; + } else { + value = true; + } } + // this line ensures that key/value pairs that look like key=; are parsed correctly as MISSING + if ( "".equals(value) ) value = VCFConstants.MISSING_VALUE_v4; + attributes.put(key, value); } } @@ -609,99 +551,6 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { alleles.add(allele); } - protected static boolean isSingleNucleotideEvent(List alleles) { - for ( Allele a : alleles ) { - if ( a.length() != 1 ) - return false; - } - return true; - } - - public static int computeForwardClipping(final List unclippedAlleles, final byte ref0) { - boolean clipping = true; - int symbolicAlleleCount = 0; - - for ( Allele a : unclippedAlleles ) { - if ( a.isSymbolic() ) { - symbolicAlleleCount++; - continue; - } - - if ( a.length() < 1 || (a.getBases()[0] != ref0) ) { - clipping = false; - break; - } - } - - // don't clip if all alleles are symbolic - return (clipping && symbolicAlleleCount != unclippedAlleles.size()) ? 1 : 0; - } - - public static int computeReverseClipping(final List unclippedAlleles, final byte[] ref, final int forwardClipping, final boolean allowFullClip, final int lineNo) { - int clipping = 0; - boolean stillClipping = true; - - while ( stillClipping ) { - for ( final Allele a : unclippedAlleles ) { - if ( a.isSymbolic() ) - continue; - - // we need to ensure that we don't reverse clip out all of the bases from an allele because we then will have the wrong - // position set for the VariantContext (although it's okay to forward clip it all out, because the position will be fine). - if ( a.length() - clipping == 0 ) - return clipping - (allowFullClip ? 0 : 1); - - if ( a.length() - clipping <= forwardClipping || a.length() - forwardClipping == 0 ) { - stillClipping = false; - } - else if ( ref.length == clipping ) { - if ( allowFullClip ) - stillClipping = false; - else - generateException("bad alleles encountered", lineNo); - } - else if ( a.getBases()[a.length()-clipping-1] != ref[ref.length-clipping-1] ) { - stillClipping = false; - } - } - if ( stillClipping ) - clipping++; - } - - return clipping; - } - - /** - * clip the alleles, based on the reference - * - * @param position the unadjusted start position (pre-clipping) - * @param ref the reference string - * @param unclippedAlleles the list of unclipped alleles - * @param clippedAlleles output list of clipped alleles - * @param lineNo the current line number in the file - * @return the new reference end position of this event - */ - protected static int clipAlleles(int position, String ref, List unclippedAlleles, List clippedAlleles, int lineNo) { - - int forwardClipping = computeForwardClipping(unclippedAlleles, (byte)ref.charAt(0)); - int reverseClipping = computeReverseClipping(unclippedAlleles, ref.getBytes(), forwardClipping, false, lineNo); - - if ( clippedAlleles != null ) { - for ( Allele a : unclippedAlleles ) { - if ( a.isSymbolic() ) { - clippedAlleles.add(a); - } else { - clippedAlleles.add(Allele.create(Arrays.copyOfRange(a.getBases(), forwardClipping, a.getBases().length-reverseClipping), a.isReference())); - } - } - } - - // the new reference length - int refLength = ref.length() - reverseClipping; - - return position+Math.max(refLength - 1,0); - } - public final static boolean canDecodeFile(final String potentialInput, final String MAGIC_HEADER_LINE) { try { return isVCFStream(new FileInputStream(potentialInput), MAGIC_HEADER_LINE) || @@ -730,4 +579,133 @@ public abstract class AbstractVCFCodec implements FeatureCodec, NameAwareCodec { try { stream.close(); } catch ( IOException e ) {} } } + + + /** + * create a genotype map + * + * @param str the string + * @param alleles the list of alleles + * @return a mapping of sample name to genotype object + */ + public LazyGenotypesContext.LazyData createGenotypeMap(final String str, + final List alleles, + final String chr, + final int pos) { + if (genotypeParts == null) + genotypeParts = new String[header.getColumnCount() - NUM_STANDARD_FIELDS]; + + int nParts = ParsingUtils.split(str, genotypeParts, VCFConstants.FIELD_SEPARATOR_CHAR); + if ( nParts != genotypeParts.length ) + generateException("there are " + (nParts-1) + " genotypes while the header requires that " + (genotypeParts.length-1) + " genotypes be present for all records", lineNo); + + ArrayList genotypes = new ArrayList(nParts); + + // get the format keys + int nGTKeys = ParsingUtils.split(genotypeParts[0], genotypeKeyArray, VCFConstants.GENOTYPE_FIELD_SEPARATOR_CHAR); + + // cycle through the sample names + Iterator sampleNameIterator = header.getGenotypeSamples().iterator(); + + // clear out our allele mapping + alleleMap.clear(); + + // cycle through the genotype strings + for (int genotypeOffset = 1; genotypeOffset < nParts; genotypeOffset++) { + int GTValueSplitSize = ParsingUtils.split(genotypeParts[genotypeOffset], GTValueArray, VCFConstants.GENOTYPE_FIELD_SEPARATOR_CHAR); + + final String sampleName = sampleNameIterator.next(); + final GenotypeBuilder gb = new GenotypeBuilder(sampleName); + + // check to see if the value list is longer than the key list, which is a problem + if (nGTKeys < GTValueSplitSize) + generateException("There are too many keys for the sample " + sampleName + ", keys = " + parts[8] + ", values = " + parts[genotypeOffset]); + + int genotypeAlleleLocation = -1; + if (nGTKeys >= 1) { + gb.maxAttributes(nGTKeys - 1); + + for (int i = 0; i < nGTKeys; i++) { + final String gtKey = genotypeKeyArray[i]; + boolean missing = i >= GTValueSplitSize; + + // todo -- all of these on the fly parsing of the missing value should be static constants + if (gtKey.equals(VCFConstants.GENOTYPE_KEY)) { + genotypeAlleleLocation = i; + } else if ( missing ) { + // if its truly missing (there no provided value) skip adding it to the attributes + } else if (gtKey.equals(VCFConstants.GENOTYPE_FILTER_KEY)) { + final List filters = parseFilters(getCachedString(GTValueArray[i])); + if ( filters != null ) gb.filters(filters); + } else if ( GTValueArray[i].equals(VCFConstants.MISSING_VALUE_v4) ) { + // don't add missing values to the map + } else { + if (gtKey.equals(VCFConstants.GENOTYPE_QUALITY_KEY)) { + if ( GTValueArray[i].equals(VCFConstants.MISSING_GENOTYPE_QUALITY_v3) ) + gb.noGQ(); + else + gb.GQ((int)Math.round(Double.valueOf(GTValueArray[i]))); + } else if (gtKey.equals(VCFConstants.GENOTYPE_ALLELE_DEPTHS)) { + gb.AD(decodeInts(GTValueArray[i])); + } else if (gtKey.equals(VCFConstants.GENOTYPE_PL_KEY)) { + gb.PL(decodeInts(GTValueArray[i])); + } else if (gtKey.equals(VCFConstants.GENOTYPE_LIKELIHOODS_KEY)) { + gb.PL(GenotypeLikelihoods.fromGLField(GTValueArray[i]).getAsPLs()); + } else if (gtKey.equals(VCFConstants.DEPTH_KEY)) { + gb.DP(Integer.valueOf(GTValueArray[i])); + } else { + gb.attribute(gtKey, GTValueArray[i]); + } + } + } + } + + // check to make sure we found a genotype field if our version is less than 4.1 file + if ( version != VCFHeaderVersion.VCF4_1 && genotypeAlleleLocation == -1 ) + generateException("Unable to find the GT field for the record; the GT field is required in VCF4.0"); + if ( genotypeAlleleLocation > 0 ) + generateException("Saw GT field at position " + genotypeAlleleLocation + ", but it must be at the first position for genotypes when present"); + + final List GTalleles = (genotypeAlleleLocation == -1 ? new ArrayList(0) : parseGenotypeAlleles(GTValueArray[genotypeAlleleLocation], alleles, alleleMap)); + gb.alleles(GTalleles); + gb.phased(genotypeAlleleLocation != -1 && GTValueArray[genotypeAlleleLocation].indexOf(VCFConstants.PHASED) != -1); + + // add it to the list + try { + genotypes.add(gb.make()); + } catch (TribbleException e) { + throw new TribbleException.InternalCodecException(e.getMessage() + ", at position " + chr+":"+pos); + } + } + + return new LazyGenotypesContext.LazyData(genotypes, header.getSampleNamesInOrder(), header.getSampleNameToOffset()); + } + + + private final static String[] INT_DECODE_ARRAY = new String[10000]; + private final static int[] decodeInts(final String string) { + final int nValues = ParsingUtils.split(string, INT_DECODE_ARRAY, ','); + final int[] values = new int[nValues]; + for ( int i = 0; i < nValues; i++ ) + values[i] = Integer.valueOf(INT_DECODE_ARRAY[i]); + return values; + } + + /** + * Forces all VCFCodecs to not perform any on the fly modifications to the VCF header + * of VCF records. Useful primarily for raw comparisons such as when comparing + * raw VCF records + */ + public final void disableOnTheFlyModifications() { + doOnTheFlyModifications = false; + } + + + protected void generateException(String message) { + throw new UserException.MalformedVCF(message, lineNo); + } + + protected static void generateException(String message, int lineNo) { + throw new UserException.MalformedVCF(message, lineNo); + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/ManualSortingVCFWriter.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/ManualSortingVCFWriter.java deleted file mode 100755 index 7dcdab924..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/ManualSortingVCFWriter.java +++ /dev/null @@ -1,52 +0,0 @@ -/* - * Copyright (c) 2010. - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR - * THE USE OR OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.utils.codecs.vcf; - -/** - * this class writes VCF files, allowing records to be passed in unsorted. - */ -public class ManualSortingVCFWriter extends SortingVCFWriterBase { - - /** - * create a local-sorting VCF writer, given an inner VCF writer to write to - * - * @param innerWriter the VCFWriter to write to - * @param takeOwnershipOfInner Should this Writer close innerWriter when it's done with it - */ - public ManualSortingVCFWriter(VCFWriter innerWriter, boolean takeOwnershipOfInner) { - super(innerWriter, takeOwnershipOfInner); - } - - public ManualSortingVCFWriter(VCFWriter innerWriter) { - super(innerWriter); - } - - // Note that if mostUpstreamWritableLoc = null, then ALL records will be emitted (since not currently waiting for anything) - public void setmostUpstreamWritableLocus(Integer mostUpstreamWritableLoc) { - this.mostUpstreamWritableLoc = mostUpstreamWritableLoc; - emitSafeRecords(); - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCF3Codec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCF3Codec.java index b3329c708..2c103b473 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCF3Codec.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCF3Codec.java @@ -1,3 +1,27 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + package org.broadinstitute.sting.utils.codecs.vcf; import org.broad.tribble.TribbleException; @@ -37,6 +61,7 @@ public class VCF3Codec extends AbstractVCFCodec { List headerStrings = new ArrayList(); String line; + VCFHeaderVersion version = null; try { boolean foundHeaderVersion = false; while ((line = reader.readLine()) != null) { @@ -57,7 +82,8 @@ public class VCF3Codec extends AbstractVCFCodec { if (!foundHeaderVersion) { throw new TribbleException.InvalidHeader("We never saw a header line specifying VCF version"); } - return createHeader(headerStrings, line); + headerStrings.add(line); + return super.parseHeaderFromLines(headerStrings, version); } else { throw new TribbleException.InvalidHeader("We never saw the required CHROM header line (starting with one #) for the input VCF file"); @@ -76,24 +102,24 @@ public class VCF3Codec extends AbstractVCFCodec { * @param filterString the string to parse * @return a set of the filters applied */ - protected Set parseFilters(String filterString) { + protected List parseFilters(String filterString) { // null for unfiltered if ( filterString.equals(VCFConstants.UNFILTERED) ) return null; // empty set for passes filters - LinkedHashSet fFields = new LinkedHashSet(); + List fFields = new ArrayList(); if ( filterString.equals(VCFConstants.PASSES_FILTERS_v3) ) - return fFields; + return new ArrayList(fFields); if ( filterString.length() == 0 ) generateException("The VCF specification requires a valid filter status"); // do we have the filter string cached? if ( filterHash.containsKey(filterString) ) - return filterHash.get(filterString); + return new ArrayList(filterHash.get(filterString)); // otherwise we have to parse and cache the value if ( filterString.indexOf(VCFConstants.FILTER_CODE_SEPARATOR) == -1 ) @@ -106,93 +132,6 @@ public class VCF3Codec extends AbstractVCFCodec { return fFields; } - /** - * create a genotype map - * - * @param str the string - * @param alleles the list of alleles - * @param chr chrom - * @param pos position - * @return a mapping of sample name to genotype object - */ - public LazyGenotypesContext.LazyData createGenotypeMap(String str, List alleles, String chr, int pos) { - if (genotypeParts == null) - genotypeParts = new String[header.getColumnCount() - NUM_STANDARD_FIELDS]; - - int nParts = ParsingUtils.split(str, genotypeParts, VCFConstants.FIELD_SEPARATOR_CHAR); - if ( nParts != genotypeParts.length ) - generateException("there are " + (nParts-1) + " genotypes while the header requires that " + (genotypeParts.length-1) + " genotypes be present for all records", lineNo); - - ArrayList genotypes = new ArrayList(nParts); - - // get the format keys - int nGTKeys = ParsingUtils.split(genotypeParts[0], genotypeKeyArray, VCFConstants.GENOTYPE_FIELD_SEPARATOR_CHAR); - - // cycle through the sample names - Iterator sampleNameIterator = header.getGenotypeSamples().iterator(); - - // clear out our allele mapping - alleleMap.clear(); - - // cycle through the genotype strings - for (int genotypeOffset = 1; genotypeOffset < nParts; genotypeOffset++) { - int GTValueSplitSize = ParsingUtils.split(genotypeParts[genotypeOffset], GTValueArray, VCFConstants.GENOTYPE_FIELD_SEPARATOR_CHAR); - - double GTQual = VariantContext.NO_LOG10_PERROR; - Set genotypeFilters = null; - Map gtAttributes = null; - String sampleName = sampleNameIterator.next(); - - // check to see if the value list is longer than the key list, which is a problem - if (nGTKeys < GTValueSplitSize) - generateException("There are too many keys for the sample " + sampleName + ", keys = " + parts[8] + ", values = " + parts[genotypeOffset]); - - int genotypeAlleleLocation = -1; - if (nGTKeys >= 1) { - gtAttributes = new HashMap(nGTKeys - 1); - - for (int i = 0; i < nGTKeys; i++) { - final String gtKey = new String(genotypeKeyArray[i]); - boolean missing = i >= GTValueSplitSize; - - if (gtKey.equals(VCFConstants.GENOTYPE_KEY)) { - genotypeAlleleLocation = i; - } else if (gtKey.equals(VCFConstants.GENOTYPE_QUALITY_KEY)) { - GTQual = missing ? parseQual(VCFConstants.MISSING_VALUE_v4) : parseQual(GTValueArray[i]); - } else if (gtKey.equals(VCFConstants.GENOTYPE_FILTER_KEY)) { - genotypeFilters = missing ? parseFilters(VCFConstants.MISSING_VALUE_v4) : parseFilters(getCachedString(GTValueArray[i])); - } else if ( missing || GTValueArray[i].equals(VCFConstants.MISSING_GENOTYPE_QUALITY_v3) ) { - gtAttributes.put(gtKey, VCFConstants.MISSING_VALUE_v4); - } else { - gtAttributes.put(gtKey, new String(GTValueArray[i])); - } - } - } - - // check to make sure we found a genotype field - if ( genotypeAlleleLocation < 0 ) - generateException("Unable to find the GT field for the record; the GT field is required"); - if ( genotypeAlleleLocation > 0 ) - generateException("Saw GT field at position " + genotypeAlleleLocation + ", but it must be at the first position for genotypes"); - - boolean phased = GTValueArray[genotypeAlleleLocation].indexOf(VCFConstants.PHASED) != -1; - - // add it to the list - try { - genotypes.add(new Genotype(sampleName, - parseGenotypeAlleles(GTValueArray[genotypeAlleleLocation], alleles, alleleMap), - GTQual, - genotypeFilters, - gtAttributes, - phased)); - } catch (TribbleException e) { - throw new TribbleException.InternalCodecException(e.getMessage() + ", at position " + chr+":"+pos); - } - } - - return new LazyGenotypesContext.LazyData(genotypes, header.sampleNamesInOrder, header.sampleNameToOffset); - } - @Override public boolean canDecode(final String potentialInput) { return canDecodeFile(potentialInput, VCF3_MAGIC_HEADER); diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFAlleleClipper.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFAlleleClipper.java new file mode 100644 index 000000000..40ba23d9d --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFAlleleClipper.java @@ -0,0 +1,434 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.codecs.vcf; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Invariant; +import com.google.java.contract.Requires; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.variantcontext.*; + +import java.util.*; + +/** + * All of the gross allele clipping and padding routines in one place + * + * Having attempted to understand / fix / document this code myself + * I can only conclude that this entire approach needs to be rethought. This + * code just doesn't work robustly with symbolic alleles, with multiple alleles, + * requires a special "reference base for indels" stored in the VariantContext + * whose correctness isn't enforced, and overall has strange special cases + * all over the place. + * + * The reason this code is so complex is due to symbolics and multi-alleleic + * variation, which frequently occur when combining variants from multiple + * VCF files. + * + * TODO rethink this class, make it clean, and make it easy to create, mix, and write out alleles + * TODO this code doesn't work with reverse clipped alleles (ATA / GTTA -> AT / GT) + * + * @author Mark DePristo + * @since 6/12 + */ +public final class VCFAlleleClipper { + private VCFAlleleClipper() { } + + /** + * Determine whether we should clip off the first base of all unclippped alleles or not + * + * Returns true if all of the alleles in unclippedAlleles share a common first base with + * ref0. Ref0 should be the first base of the reference allele UnclippedAlleles may + * contain the reference allele itself, or just the alternate alleles, it doesn't matter. + * + * The algorithm returns true if the first base should be clipped off, or false otherwise + * + * This algorithm works even in the presence of symbolic alleles, logically ignoring these + * values. It + * + * @param unclippedAlleles list of unclipped alleles to assay + * @param ref0 the first base of the reference allele + * @return true if we should clip the first base of unclippedAlleles + */ + @Requires("unclippedAlleles != null") + public static boolean shouldClipFirstBaseP(final List unclippedAlleles, + final byte ref0) { + boolean allSymbolicAlt = true; + + for ( final Allele a : unclippedAlleles ) { + if ( a.isSymbolic() ) { + continue; + } + + // already know we aren't symbolic, so we only need to decide if we have only seen a ref + if ( ! a.isReference() ) + allSymbolicAlt = false; + + if ( a.length() < 1 || (a.getBases()[0] != ref0) ) { + return false; + } + } + + // to reach here all alleles are consistent with clipping the first base matching ref0 + // but we don't clip if all ALT alleles are symbolic + return ! allSymbolicAlt; + } + + public static int computeReverseClipping(final List unclippedAlleles, + final byte[] ref, + final int forwardClipping, + final boolean allowFullClip) { + int clipping = 0; + boolean stillClipping = true; + + while ( stillClipping ) { + for ( final Allele a : unclippedAlleles ) { + if ( a.isSymbolic() ) + continue; + + // we need to ensure that we don't reverse clip out all of the bases from an allele because we then will have the wrong + // position set for the VariantContext (although it's okay to forward clip it all out, because the position will be fine). + if ( a.length() - clipping == 0 ) + return clipping - (allowFullClip ? 0 : 1); + + if ( a.length() - clipping <= forwardClipping || a.length() - forwardClipping == 0 ) { + stillClipping = false; + } + else if ( ref.length == clipping ) { + if ( allowFullClip ) + stillClipping = false; + else + return -1; + } + else if ( a.getBases()[a.length()-clipping-1] != ref[ref.length-clipping-1] ) { + stillClipping = false; + } + } + if ( stillClipping ) + clipping++; + } + + return clipping; + } + + /** + * Are the alleles describing a polymorphism substitution one base for another? + * + * @param alleles a list of alleles, must not be empty + * @return Return true if the length of any allele in alleles isn't 1 + */ + @Requires("!alleles.isEmpty()") + private static boolean isSingleNucleotideEvent(final List alleles) { + for ( final Allele a : alleles ) { + if ( a.length() != 1 ) + return false; + } + return true; + } + + /** + * clip the alleles, based on the reference, returning a ClippedAlleles object describing what happened + * + * The ClippedAlleles object contains the implied stop position of the alleles, given the provided start + * position, after clipping. It also contains the list of alleles, in the same order as the provided + * unclipped ones, that are the fully clipped version of the input alleles. If an error occurs + * during this option the getError() function returns a string describing the problem (for use in parsers). + * + * The basic operation are: + * + * single allele + * => stop == start and clipped == unclipped + * any number of single nucleotide events + * => stop == start and clipped == unclipped + * two alleles, second being symbolic + * => stop == start and clipped == unclipped + * Note in this case that the STOP should be computed by other means (from END in VCF, for example) + * Note that if there's more than two alleles and the second is a symbolic the code produces an error + * Any other case: + * The alleles are trimmed of any sequence shared at the end of the alleles. If N bases + * are common then the alleles will all be at least N bases shorter. + * The stop position returned is the start position + the length of the + * reverse trimmed only reference allele - 1. + * If the alleles all share a single common starting sequence (just one base is considered) + * then the alleles have this leading common base removed as well. + * + * TODO This code is gross and brittle and needs to be rethought from scratch + * + * @param start the unadjusted start position (pre-clipping) + * @param ref the reference string + * @param unclippedAlleles the list of unclipped alleles, including the reference allele + * @return the new reference end position of this event + */ + @Requires({"start > 0", "ref != null && ref.length() > 0", "!unclippedAlleles.isEmpty()"}) + @Ensures("result != null") + public static ClippedAlleles clipAlleles(final int start, + final String ref, + final List unclippedAlleles, + final int endForSymbolicAllele ) { + // no variation or single nucleotide events are by definition fully clipped + if ( unclippedAlleles.size() == 1 || isSingleNucleotideEvent(unclippedAlleles) ) + return new ClippedAlleles(start, unclippedAlleles, null); + + // we've got to sort out the clipping by looking at the alleles themselves + final byte firstRefBase = (byte) ref.charAt(0); + final boolean firstBaseIsClipped = shouldClipFirstBaseP(unclippedAlleles, firstRefBase); + final int forwardClipping = firstBaseIsClipped ? 1 : 0; + final int reverseClipping = computeReverseClipping(unclippedAlleles, ref.getBytes(), forwardClipping, false); + final boolean needsClipping = forwardClipping > 0 || reverseClipping > 0; + + if ( reverseClipping == -1 ) + return new ClippedAlleles("computeReverseClipping failed due to bad alleles"); + + boolean sawSymbolic = false; + List clippedAlleles; + if ( ! needsClipping ) { + // there's nothing to clip, so clippedAlleles are the original alleles + clippedAlleles = unclippedAlleles; + } else { + clippedAlleles = new ArrayList(unclippedAlleles.size()); + for ( final Allele a : unclippedAlleles ) { + if ( a.isSymbolic() ) { + sawSymbolic = true; + clippedAlleles.add(a); + } else { + final byte[] allele = Arrays.copyOfRange(a.getBases(), forwardClipping, a.getBases().length - reverseClipping); + if ( !Allele.acceptableAlleleBases(allele) ) + return new ClippedAlleles("Unparsable vcf record with bad allele [" + allele + "]"); + clippedAlleles.add(Allele.create(allele, a.isReference())); + } + } + } + + int stop = VariantContextUtils.computeEndFromAlleles(clippedAlleles, start, endForSymbolicAllele); + + // TODO + // TODO + // TODO COMPLETELY BROKEN CODE -- THE GATK CURRENTLY ENCODES THE STOP POSITION FOR CLIPPED ALLELES AS + 1 + // TODO ITS TRUE SIZE TO DIFFERENTIATE CLIPPED VS. UNCLIPPED ALLELES. NEEDS TO BE FIXED + // TODO + // TODO + if ( needsClipping && ! sawSymbolic && ! clippedAlleles.get(0).isNull() ) stop++; + // TODO + // TODO + // TODO COMPLETELY BROKEN CODE -- THE GATK CURRENTLY ENCODES THE STOP POSITION FOR CLIPPED ALLELES AS + 1 + // TODO ITS TRUE SIZE TO DIFFERENTIATE CLIPPED VS. UNCLIPPED ALLELES. NEEDS TO BE FIXED + // TODO + // TODO + + final Byte refBaseForIndel = firstBaseIsClipped ? firstRefBase : null; + return new ClippedAlleles(stop, clippedAlleles, refBaseForIndel); + } + + /** + * Returns true if the alleles in inputVC should have reference bases added for padding + * + * We need to pad a VC with a common base if the length of the reference allele is + * less than the length of the VariantContext. This happens because the position of + * e.g. an indel is always one before the actual event (as per VCF convention). + * + * @param inputVC the VC to evaluate, cannot be null + * @return true if + */ + public static boolean needsPadding(final VariantContext inputVC) { + // biallelic sites with only symbolic never need padding + if ( inputVC.isBiallelic() && inputVC.getAlternateAllele(0).isSymbolic() ) + return false; + + final int recordLength = inputVC.getEnd() - inputVC.getStart() + 1; + final int referenceLength = inputVC.getReference().length(); + + if ( referenceLength == recordLength ) + return false; + else if ( referenceLength == recordLength - 1 ) + return true; + else if ( !inputVC.hasSymbolicAlleles() ) + throw new IllegalArgumentException("Badly formed variant context at location " + String.valueOf(inputVC.getStart()) + + " in contig " + inputVC.getChr() + ". Reference length must be at most one base shorter than location size"); + else if ( inputVC.isMixed() && inputVC.hasSymbolicAlleles() ) + throw new IllegalArgumentException("GATK infrastructure limitation prevents needsPadding from working properly with VariantContexts containing a mixture of symbolic and concrete alleles at " + inputVC); + return false; + } + + public static Allele padAllele(final VariantContext vc, final Allele allele) { + assert needsPadding(vc); + + if ( allele.isSymbolic() ) + return allele; + else { + // get bases for current allele and create a new one with trimmed bases + final StringBuilder sb = new StringBuilder(); + sb.append((char)vc.getReferenceBaseForIndel().byteValue()); + sb.append(allele.getDisplayString()); + final String newBases = sb.toString(); + return Allele.create(newBases, allele.isReference()); + } + } + + public static VariantContext createVariantContextWithPaddedAlleles(VariantContext inputVC) { + final boolean padVC = needsPadding(inputVC); + + // nothing to do if we don't need to pad bases + if ( padVC ) { + if ( !inputVC.hasReferenceBaseForIndel() ) + throw new ReviewedStingException("Badly formed variant context at location " + inputVC.getChr() + ":" + inputVC.getStart() + "; no padded reference base is available."); + + final ArrayList alleles = new ArrayList(inputVC.getNAlleles()); + final Map unpaddedToPadded = inputVC.hasGenotypes() ? new HashMap(inputVC.getNAlleles()) : null; + + boolean paddedAtLeastOne = false; + for (final Allele a : inputVC.getAlleles()) { + final Allele padded = padAllele(inputVC, a); + paddedAtLeastOne = paddedAtLeastOne || padded != a; + alleles.add(padded); + if ( unpaddedToPadded != null ) unpaddedToPadded.put(a, padded); // conditional to avoid making unnecessary make + } + + if ( ! paddedAtLeastOne ) + throw new ReviewedStingException("VC was supposed to need padding but no allele was actually changed at location " + inputVC.getChr() + ":" + inputVC.getStart() + " with allele " + inputVC.getAlleles()); + + final VariantContextBuilder vcb = new VariantContextBuilder(inputVC); + vcb.alleles(alleles); + + // the position of the inputVC is one further, if it doesn't contain symbolic alleles + vcb.computeEndFromAlleles(alleles, inputVC.getStart(), inputVC.getEnd()); + + if ( inputVC.hasGenotypes() ) { + assert unpaddedToPadded != null; + + // now we can recreate new genotypes with trimmed alleles + final GenotypesContext genotypes = GenotypesContext.create(inputVC.getNSamples()); + for (final Genotype g : inputVC.getGenotypes() ) { + final List newGenotypeAlleles = new ArrayList(g.getAlleles().size()); + for (final Allele a : g.getAlleles()) { + newGenotypeAlleles.add( a.isCalled() ? unpaddedToPadded.get(a) : Allele.NO_CALL); + } + genotypes.add(new GenotypeBuilder(g).alleles(newGenotypeAlleles).make()); + } + vcb.genotypes(genotypes); + } + + return vcb.make(); + } + else + return inputVC; + + } + + public static VariantContext reverseTrimAlleles( final VariantContext inputVC ) { + // see if we need to trim common reference base from all alleles + + final int trimExtent = computeReverseClipping(inputVC.getAlleles(), inputVC.getReference().getDisplayString().getBytes(), 0, true); + if ( trimExtent <= 0 || inputVC.getAlleles().size() <= 1 ) + return inputVC; + + final List alleles = new ArrayList(); + final GenotypesContext genotypes = GenotypesContext.create(); + final Map originalToTrimmedAlleleMap = new HashMap(); + + for (final Allele a : inputVC.getAlleles()) { + if (a.isSymbolic()) { + alleles.add(a); + originalToTrimmedAlleleMap.put(a, a); + } else { + // get bases for current allele and create a new one with trimmed bases + final byte[] newBases = Arrays.copyOfRange(a.getBases(), 0, a.length()-trimExtent); + final Allele trimmedAllele = Allele.create(newBases, a.isReference()); + alleles.add(trimmedAllele); + originalToTrimmedAlleleMap.put(a, trimmedAllele); + } + } + + // now we can recreate new genotypes with trimmed alleles + for ( final Genotype genotype : inputVC.getGenotypes() ) { + final List originalAlleles = genotype.getAlleles(); + final List trimmedAlleles = new ArrayList(); + for ( final Allele a : originalAlleles ) { + if ( a.isCalled() ) + trimmedAlleles.add(originalToTrimmedAlleleMap.get(a)); + else + trimmedAlleles.add(Allele.NO_CALL); + } + genotypes.add(new GenotypeBuilder(genotype).alleles(trimmedAlleles).make()); + } + + return new VariantContextBuilder(inputVC).stop(inputVC.getStart() + alleles.get(0).length() + (inputVC.isMixed() ? -1 : 0)).alleles(alleles).genotypes(genotypes).make(); + } + + @Invariant("stop != -1 || error != null") // we're either an error or a meaningful result but not both + public static class ClippedAlleles { + private final int stop; + private final List clippedAlleles; + private final Byte refBaseForIndel; + private final String error; + + @Requires({"stop > 0", "clippedAlleles != null"}) + private ClippedAlleles(final int stop, final List clippedAlleles, final Byte refBaseForIndel) { + this.stop = stop; + this.clippedAlleles = clippedAlleles; + this.error = null; + this.refBaseForIndel = refBaseForIndel; + } + + @Requires("error != null") + private ClippedAlleles(final String error) { + this.stop = -1; + this.clippedAlleles = null; + this.refBaseForIndel = null; + this.error = error; + } + + /** + * Get an error if it occurred + * @return the error message, or null if no error occurred + */ + public String getError() { + return error; + } + + /** + * Get the stop position to use after the clipping as been applied, given the + * provided position to clipAlleles + * @return + */ + public int getStop() { + return stop; + } + + /** + * Get the clipped alleles themselves + * @return the clipped alleles in the order of the input unclipped alleles + */ + public List getClippedAlleles() { + return clippedAlleles; + } + + /** + * Returns the reference base we should use for indels, or null if none is appropriate + * @return + */ + public Byte getRefBaseForIndel() { + return refBaseForIndel; + } + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCodec.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCodec.java index 01cc367c4..da5b18831 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCodec.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCodec.java @@ -47,9 +47,15 @@ import java.util.*; */ public class VCFCodec extends AbstractVCFCodec { // Our aim is to read in the records and convert to VariantContext as quickly as possible, relying on VariantContext to do the validation of any contradictory (or malformed) record parameters. - public final static String VCF4_MAGIC_HEADER = "##fileformat=VCFv4"; + /** + * A VCF header the contains master info/filter/format records that we use to 'fill in' + * any missing records from our input VCF header. This allows us to repair headers on + * the fly + */ + private VCFHeader headerForRepairs = null; + /** * @param reader the line reader to take header lines from * @return the number of header lines @@ -80,7 +86,11 @@ public class VCFCodec extends AbstractVCFCodec { if (!foundHeaderVersion) { throw new TribbleException.InvalidHeader("We never saw a header line specifying VCF version"); } - return createHeader(headerStrings, line); + headerStrings.add(line); + super.parseHeaderFromLines(headerStrings, version); + if ( headerForRepairs != null ) + this.header = repairHeader(this.header, headerForRepairs); + return this.header; } else { throw new TribbleException.InvalidHeader("We never saw the required CHROM header line (starting with one #) for the input VCF file"); @@ -93,6 +103,23 @@ public class VCFCodec extends AbstractVCFCodec { throw new TribbleException.InvalidHeader("We never saw the required CHROM header line (starting with one #) for the input VCF file"); } + private final VCFHeader repairHeader(final VCFHeader readHeader, final VCFHeader masterHeader) { + final Set lines = VCFUtils.smartMergeHeaders(Arrays.asList(readHeader, masterHeader), log); + return new VCFHeader(lines, readHeader.getGenotypeSamples()); + } + + /** + * Tells this VCFCodec to repair the incoming header files with the information in masterHeader + * + * @param headerForRepairs + */ + public void setHeaderForRepairs(final VCFHeader headerForRepairs) { + if ( headerForRepairs != null ) + log.info("Using master VCF header to repair missing files from incoming VCFs"); + this.headerForRepairs = headerForRepairs; + } + + /** * parse the filter string, first checking to see if we already have parsed it in a previous attempt @@ -100,121 +127,33 @@ public class VCFCodec extends AbstractVCFCodec { * @param filterString the string to parse * @return a set of the filters applied or null if filters were not applied to the record (e.g. as per the missing value in a VCF) */ - protected Set parseFilters(String filterString) { - return parseFilters(filterHash, lineNo, filterString); - } - - public static Set parseFilters(final Map> cache, final int lineNo, final String filterString) { + protected List parseFilters(String filterString) { // null for unfiltered if ( filterString.equals(VCFConstants.UNFILTERED) ) return null; if ( filterString.equals(VCFConstants.PASSES_FILTERS_v4) ) - return Collections.emptySet(); + return Collections.emptyList(); if ( filterString.equals(VCFConstants.PASSES_FILTERS_v3) ) generateException(VCFConstants.PASSES_FILTERS_v3 + " is an invalid filter name in vcf4", lineNo); if ( filterString.length() == 0 ) generateException("The VCF specification requires a valid filter status: filter was " + filterString, lineNo); // do we have the filter string cached? - if ( cache != null && cache.containsKey(filterString) ) - return Collections.unmodifiableSet(cache.get(filterString)); + if ( filterHash.containsKey(filterString) ) + return filterHash.get(filterString); // empty set for passes filters - LinkedHashSet fFields = new LinkedHashSet(); + List fFields = new LinkedList(); // otherwise we have to parse and cache the value if ( filterString.indexOf(VCFConstants.FILTER_CODE_SEPARATOR) == -1 ) fFields.add(filterString); else fFields.addAll(Arrays.asList(filterString.split(VCFConstants.FILTER_CODE_SEPARATOR))); - fFields = fFields; - if ( cache != null ) cache.put(filterString, fFields); + filterHash.put(filterString, Collections.unmodifiableList(fFields)); - return Collections.unmodifiableSet(fFields); - } - - - /** - * create a genotype map - * - * @param str the string - * @param alleles the list of alleles - * @return a mapping of sample name to genotype object - */ - public LazyGenotypesContext.LazyData createGenotypeMap(String str, List alleles, String chr, int pos) { - if (genotypeParts == null) - genotypeParts = new String[header.getColumnCount() - NUM_STANDARD_FIELDS]; - - int nParts = ParsingUtils.split(str, genotypeParts, VCFConstants.FIELD_SEPARATOR_CHAR); - if ( nParts != genotypeParts.length ) - generateException("there are " + (nParts-1) + " genotypes while the header requires that " + (genotypeParts.length-1) + " genotypes be present for all records", lineNo); - - ArrayList genotypes = new ArrayList(nParts); - - // get the format keys - int nGTKeys = ParsingUtils.split(genotypeParts[0], genotypeKeyArray, VCFConstants.GENOTYPE_FIELD_SEPARATOR_CHAR); - - // cycle through the sample names - Iterator sampleNameIterator = header.getGenotypeSamples().iterator(); - - // clear out our allele mapping - alleleMap.clear(); - - // cycle through the genotype strings - for (int genotypeOffset = 1; genotypeOffset < nParts; genotypeOffset++) { - int GTValueSplitSize = ParsingUtils.split(genotypeParts[genotypeOffset], GTValueArray, VCFConstants.GENOTYPE_FIELD_SEPARATOR_CHAR); - - double GTQual = VariantContext.NO_LOG10_PERROR; - Set genotypeFilters = null; - Map gtAttributes = null; - String sampleName = sampleNameIterator.next(); - - // check to see if the value list is longer than the key list, which is a problem - if (nGTKeys < GTValueSplitSize) - generateException("There are too many keys for the sample " + sampleName + ", keys = " + parts[8] + ", values = " + parts[genotypeOffset]); - - int genotypeAlleleLocation = -1; - if (nGTKeys >= 1) { - gtAttributes = new HashMap(nGTKeys - 1); - - for (int i = 0; i < nGTKeys; i++) { - final String gtKey = new String(genotypeKeyArray[i]); - boolean missing = i >= GTValueSplitSize; - - // todo -- all of these on the fly parsing of the missing value should be static constants - if (gtKey.equals(VCFConstants.GENOTYPE_KEY)) { - genotypeAlleleLocation = i; - } else if (gtKey.equals(VCFConstants.GENOTYPE_QUALITY_KEY)) { - GTQual = missing ? parseQual(VCFConstants.MISSING_VALUE_v4) : parseQual(GTValueArray[i]); - } else if (gtKey.equals(VCFConstants.GENOTYPE_FILTER_KEY)) { - genotypeFilters = missing ? parseFilters(VCFConstants.MISSING_VALUE_v4) : parseFilters(getCachedString(GTValueArray[i])); - } else if ( missing ) { - gtAttributes.put(gtKey, VCFConstants.MISSING_VALUE_v4); - } else { - gtAttributes.put(gtKey, new String(GTValueArray[i])); - } - } - } - - // check to make sure we found a genotype field if we are a VCF4.0 file - if ( version == VCFHeaderVersion.VCF4_0 && genotypeAlleleLocation == -1 ) - generateException("Unable to find the GT field for the record; the GT field is required in VCF4.0"); - if ( genotypeAlleleLocation > 0 ) - generateException("Saw GT field at position " + genotypeAlleleLocation + ", but it must be at the first position for genotypes when present"); - - List GTalleles = (genotypeAlleleLocation == -1 ? new ArrayList(0) : parseGenotypeAlleles(GTValueArray[genotypeAlleleLocation], alleles, alleleMap)); - boolean phased = genotypeAlleleLocation != -1 && GTValueArray[genotypeAlleleLocation].indexOf(VCFConstants.PHASED) != -1; - - // add it to the list - try { - genotypes.add(new Genotype(sampleName, GTalleles, GTQual, genotypeFilters, gtAttributes, phased)); - } catch (TribbleException e) { - throw new TribbleException.InternalCodecException(e.getMessage() + ", at position " + chr+":"+pos); - } - } - - return new LazyGenotypesContext.LazyData(genotypes, header.sampleNamesInOrder, header.sampleNameToOffset); + return fFields; } @Override diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCompoundHeaderLine.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCompoundHeaderLine.java index d2bd507b5..667de3dea 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCompoundHeaderLine.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFCompoundHeaderLine.java @@ -24,8 +24,12 @@ package org.broadinstitute.sting.utils.codecs.vcf; +import org.apache.log4j.Logger; import org.broad.tribble.TribbleException; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.variantcontext.GenotypeLikelihoods; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.Arrays; import java.util.LinkedHashMap; @@ -35,6 +39,8 @@ import java.util.Map; * a base class for compound header lines, which include info lines and format lines (so far) */ public abstract class VCFCompoundHeaderLine extends VCFHeaderLine implements VCFIDHeaderLine { + final protected static Logger logger = Logger.getLogger(VCFHeader.class); + public enum SupportedHeaderLineType { INFO(true), FORMAT(false); @@ -56,23 +62,37 @@ public abstract class VCFCompoundHeaderLine extends VCFHeaderLine implements VCF public String getDescription() { return description; } public VCFHeaderLineType getType() { return type; } public VCFHeaderLineCount getCountType() { return countType; } + public boolean isFixedCount() { return countType == VCFHeaderLineCount.INTEGER; } public int getCount() { - if ( countType != VCFHeaderLineCount.INTEGER ) + if ( ! isFixedCount() ) throw new ReviewedStingException("Asking for header line count when type is not an integer"); return count; } - // utility method - public int getCount(int numAltAlleles) { - int myCount; + /** + * Get the number of values expected for this header field, given the properties of VariantContext vc + * + * If the count is a fixed count, return that. For example, a field with size of 1 in the header returns 1 + * If the count is of type A, return vc.getNAlleles - 1 + * If the count is of type G, return the expected number of genotypes given the number of alleles in VC and the + * max ploidy among all samples. Note that if the max ploidy of the VC is 0 (there's no GT information + * at all, then implicitly assume diploid samples when computing G values. + * If the count is UNBOUNDED return -1 + * + * @param vc + * @return + */ + public int getCount(final VariantContext vc) { switch ( countType ) { - case INTEGER: myCount = count; break; - case UNBOUNDED: myCount = -1; break; - case A: myCount = numAltAlleles; break; - case G: myCount = ((numAltAlleles + 1) * (numAltAlleles + 2) / 2); break; - default: throw new ReviewedStingException("Unknown count type: " + countType); + case INTEGER: return count; + case UNBOUNDED: return -1; + case A: return vc.getNAlleles() - 1; + case G: + final int ploidy = vc.getMaxPloidy(); + return GenotypeLikelihoods.numLikelihoods(vc.getNAlleles(), ploidy == 0 ? 2 : ploidy); + default: + throw new ReviewedStingException("Unknown count type: " + countType); } - return myCount; } public void setNumberToUnbounded() { @@ -150,6 +170,10 @@ public abstract class VCFCompoundHeaderLine extends VCFHeaderLine implements VCF count = Integer.valueOf(numberStr); } + + if ( count < 0 && countType == VCFHeaderLineCount.INTEGER ) + throw new UserException.MalformedVCFHeader("Count < 0 for fixed size VCF header field " + name); + try { type = VCFHeaderLineType.valueOf(mapping.get("Type")); } catch (Exception e) { @@ -171,6 +195,11 @@ public abstract class VCFCompoundHeaderLine extends VCFHeaderLine implements VCF if ( name == null || type == null || description == null || lineType == null ) throw new IllegalArgumentException(String.format("Invalid VCFCompoundHeaderLine: key=%s name=%s type=%s desc=%s lineType=%s", super.getKey(), name, type, description, lineType )); + + if ( type == VCFHeaderLineType.Flag && count != 0 ) { + count = 0; + logger.warn("FLAG fields must have a count value of 0, but saw " + count + " for header line " + getID() + ". Changing it to 0 inside the code"); + } } /** diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFConstants.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFConstants.java index b23371cc9..8790a000d 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFConstants.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFConstants.java @@ -33,7 +33,9 @@ public final class VCFConstants { // reserved INFO/FORMAT field keys public static final String ANCESTRAL_ALLELE_KEY = "AA"; public static final String ALLELE_COUNT_KEY = "AC"; + public static final String MLE_ALLELE_COUNT_KEY = "MLEAC"; public static final String ALLELE_FREQUENCY_KEY = "AF"; + public static final String MLE_ALLELE_FREQUENCY_KEY = "MLEAF"; public static final String ALLELE_NUMBER_KEY = "AN"; public static final String RMS_BASE_QUALITY_KEY = "BQ"; public static final String CIGAR_KEY = "CIGAR"; @@ -42,19 +44,21 @@ public final class VCFConstants { public static final String DOWNSAMPLED_KEY = "DS"; public static final String EXPECTED_ALLELE_COUNT_KEY = "EC"; public static final String END_KEY = "END"; + public static final String GENOTYPE_FILTER_KEY = "FT"; public static final String GENOTYPE_KEY = "GT"; - @Deprecated - public static final String GENOTYPE_LIKELIHOODS_KEY = "GL"; // log10 scaled genotype likelihoods public static final String GENOTYPE_POSTERIORS_KEY = "GP"; public static final String GENOTYPE_QUALITY_KEY = "GQ"; + public static final String GENOTYPE_ALLELE_DEPTHS = "AD"; + public static final String GENOTYPE_PL_KEY = "PL"; // phred-scaled genotype likelihoods + @Deprecated public static final String GENOTYPE_LIKELIHOODS_KEY = "GL"; // log10 scaled genotype likelihoods + public static final String HAPMAP2_KEY = "H2"; public static final String HAPMAP3_KEY = "H3"; public static final String HAPLOTYPE_QUALITY_KEY = "HQ"; public static final String RMS_MAPPING_QUALITY_KEY = "MQ"; public static final String MAPPING_QUALITY_ZERO_KEY = "MQ0"; public static final String SAMPLE_NUMBER_KEY = "NS"; - public static final String PHRED_GENOTYPE_LIKELIHOODS_KEY = "PL"; // phred-scaled genotype likelihoods public static final String PHASE_QUALITY_KEY = "PQ"; public static final String PHASE_SET_KEY = "PS"; public static final String OLD_DEPTH_KEY = "RD"; @@ -85,7 +89,8 @@ public final class VCFConstants { public static final String FORMAT_HEADER_START = "##FORMAT"; public static final String INFO_HEADER_START = "##INFO"; public static final String ALT_HEADER_START = "##ALT"; - public static final String CONTIG_HEADER_START = "##contig"; + public static final String CONTIG_HEADER_KEY = "contig"; + public static final String CONTIG_HEADER_START = "##" + CONTIG_HEADER_KEY; // old indel alleles public static final char DELETION_ALLELE_v3 = 'D'; @@ -111,9 +116,8 @@ public final class VCFConstants { public static final String PER_GENOTYPE_COUNT = "G"; public static final String EMPTY_ALLELE = "."; public static final String EMPTY_GENOTYPE = "./."; - public static final double MAX_GENOTYPE_QUAL = 99.0; + public static final int MAX_GENOTYPE_QUAL = 99; - public static final String DOUBLE_PRECISION_FORMAT_STRING = "%.2f"; - public static final String DOUBLE_PRECISION_INT_SUFFIX = ".00"; public static final Double VCF_ENCODING_EPSILON = 0.00005; // when we consider fields equal(), used in the Qual compare + public static final String REFSAMPLE_DEPTH_KEY = "REFDEPTH"; } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFContigHeaderLine.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFContigHeaderLine.java new file mode 100644 index 000000000..d5d76cab7 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFContigHeaderLine.java @@ -0,0 +1,73 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.codecs.vcf; + +import java.util.Map; + +/** + * A special class representing a contig VCF header line. Nows the true contig order and sorts on that + * + * @author mdepristo + */ +public class VCFContigHeaderLine extends VCFSimpleHeaderLine { + final Integer contigIndex; + + + /** + * create a VCF contig header line + * + * @param line the header line + * @param version the vcf header version + * @param key the key for this header line + */ + public VCFContigHeaderLine(final String line, final VCFHeaderVersion version, final String key, int contigIndex) { + super(line, version, key, null); + this.contigIndex = contigIndex; + } + + public VCFContigHeaderLine(final String key, final Map mapping, int contigIndex) { + super(key, mapping, null); + this.contigIndex = contigIndex; + } + + public Integer getContigIndex() { + return contigIndex; + } + + /** + * IT IS CRITIAL THAT THIS BE OVERRIDDEN SO WE SORT THE CONTIGS IN THE CORRECT ORDER + * + * @param other + * @return + */ + @Override + public int compareTo(final Object other) { + if ( other instanceof VCFContigHeaderLine ) + return contigIndex.compareTo(((VCFContigHeaderLine) other).contigIndex); + else { + return super.compareTo(other); + } + } +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFFilterHeaderLine.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFFilterHeaderLine.java index dd0a333f3..bfc484a7e 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFFilterHeaderLine.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFFilterHeaderLine.java @@ -18,13 +18,21 @@ public class VCFFilterHeaderLine extends VCFSimpleHeaderLine { super("FILTER", name, description); } + /** + * Convenience constructor for FILTER whose description is the name + * @param name + */ + public VCFFilterHeaderLine(String name) { + super("FILTER", name, name); + } + /** * create a VCF info header line * * @param line the header line * @param version the vcf header version */ - protected VCFFilterHeaderLine(String line, VCFHeaderVersion version) { + public VCFFilterHeaderLine(String line, VCFHeaderVersion version) { super(line, version, "FILTER", Arrays.asList("ID", "Description")); } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFFormatHeaderLine.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFFormatHeaderLine.java index 474c8dd14..5fc3187c5 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFFormatHeaderLine.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFFormatHeaderLine.java @@ -20,7 +20,7 @@ public class VCFFormatHeaderLine extends VCFCompoundHeaderLine { super(name, count, type, description, SupportedHeaderLineType.FORMAT); } - protected VCFFormatHeaderLine(String line, VCFHeaderVersion version) { + public VCFFormatHeaderLine(String line, VCFHeaderVersion version) { super(line, version, SupportedHeaderLineType.FORMAT); } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFHeader.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFHeader.java index 50ff3a656..7a9329583 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFHeader.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFHeader.java @@ -24,12 +24,19 @@ package org.broadinstitute.sting.utils.codecs.vcf; +import org.apache.log4j.Logger; import org.broad.tribble.util.ParsingUtils; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import java.util.*; /** + * This class is really a POS. It allows duplicate entries in the metadata, + * stores header lines in lots of places, and all around f*cking sucks. + * + * todo -- clean this POS up + * * @author aaron *

* Class VCFHeader @@ -37,6 +44,7 @@ import java.util.*; * A class representing the VCF header */ public class VCFHeader { + final protected static Logger logger = Logger.getLogger(VCFHeader.class); // the mandatory header fields public enum HEADER_FIELDS { @@ -44,13 +52,15 @@ public class VCFHeader { } // the associated meta data - private final Set mMetaData; + private final Set mMetaData = new LinkedHashSet(); private final Map mInfoMetaData = new HashMap(); private final Map mFormatMetaData = new HashMap(); + private final Map mFilterMetaData = new HashMap(); private final Map mOtherMetaData = new HashMap(); + private final List contigMetaData = new ArrayList(); // the list of auxillary tags - private final Set mGenotypeSampleNames = new LinkedHashSet(); + private final List mGenotypeSampleNames = new ArrayList(); // the character string that indicates meta data public static final String METADATA_INDICATOR = "##"; @@ -67,19 +77,26 @@ public class VCFHeader { private boolean samplesWereAlreadySorted = true; // cache for efficient conversion of VCF -> VariantContext - protected ArrayList sampleNamesInOrder = null; - protected HashMap sampleNameToOffset = null; + private ArrayList sampleNamesInOrder = null; + private HashMap sampleNameToOffset = null; private boolean writeEngineHeaders = true; private boolean writeCommandLine = true; + /** + * Create an empty VCF header with no header lines and no samples + */ + public VCFHeader() { + this(Collections.emptySet(), Collections.emptySet()); + } + /** * create a VCF header, given a list of meta data and auxillary tags * * @param metaData the meta data associated with this header */ public VCFHeader(Set metaData) { - mMetaData = new TreeSet(metaData); + mMetaData.addAll(metaData); loadVCFVersion(); loadMetaDataMaps(); } @@ -91,16 +108,18 @@ public class VCFHeader { * @param genotypeSampleNames the sample names */ public VCFHeader(Set metaData, Set genotypeSampleNames) { - mMetaData = new TreeSet(); - if ( metaData != null ) - mMetaData.addAll(metaData); + this(metaData, new ArrayList(genotypeSampleNames)); + } + + public VCFHeader(Set metaData, List genotypeSampleNames) { + this(metaData); + + if ( genotypeSampleNames.size() != new HashSet(genotypeSampleNames).size() ) + throw new ReviewedStingException("BUG: VCF header has duplicate sample names"); mGenotypeSampleNames.addAll(genotypeSampleNames); - - loadVCFVersion(); - loadMetaDataMaps(); - samplesWereAlreadySorted = ParsingUtils.isSorted(genotypeSampleNames); + buildVCFReaderMaps(genotypeSampleNames); } /** @@ -109,10 +128,9 @@ public class VCFHeader { * using this header (i.e., read by the VCFCodec) will have genotypes * occurring in the same order * - * @param genotypeSampleNamesInAppearenceOrder genotype sample names + * @param genotypeSampleNamesInAppearenceOrder genotype sample names, must iterator in order of appearence */ - - protected void buildVCFReaderMaps(List genotypeSampleNamesInAppearenceOrder) { + private void buildVCFReaderMaps(Collection genotypeSampleNamesInAppearenceOrder) { sampleNamesInOrder = new ArrayList(genotypeSampleNamesInAppearenceOrder.size()); sampleNameToOffset = new HashMap(genotypeSampleNamesInAppearenceOrder.size()); @@ -131,7 +149,14 @@ public class VCFHeader { * @param headerLine Line to add to the existing metadata component. */ public void addMetaDataLine(VCFHeaderLine headerLine) { - mMetaData.add(headerLine); + mMetaData.add(headerLine); + } + + /** + * @return all of the VCF header lines of the ##contig form in order, or an empty set if none were present + */ + public List getContigLines() { + return Collections.unmodifiableList(contigMetaData); } /** @@ -156,16 +181,42 @@ public class VCFHeader { for ( VCFHeaderLine line : mMetaData ) { if ( line instanceof VCFInfoHeaderLine ) { VCFInfoHeaderLine infoLine = (VCFInfoHeaderLine)line; - mInfoMetaData.put(infoLine.getID(), infoLine); - } - else if ( line instanceof VCFFormatHeaderLine ) { + addMetaDataMapBinding(mInfoMetaData, infoLine); + } else if ( line instanceof VCFFormatHeaderLine ) { VCFFormatHeaderLine formatLine = (VCFFormatHeaderLine)line; - mFormatMetaData.put(formatLine.getID(), formatLine); - } - else { + addMetaDataMapBinding(mFormatMetaData, formatLine); + } else if ( line instanceof VCFFilterHeaderLine ) { + VCFFilterHeaderLine filterLine = (VCFFilterHeaderLine)line; + mFilterMetaData.put(filterLine.getID(), filterLine); + } else if ( line instanceof VCFContigHeaderLine ) { + contigMetaData.add((VCFContigHeaderLine)line); + } else { mOtherMetaData.put(line.getKey(), line); } } + + if ( hasFormatLine(VCFConstants.GENOTYPE_LIKELIHOODS_KEY) && ! hasFormatLine(VCFConstants.GENOTYPE_PL_KEY) ) { + logger.warn("Found " + VCFConstants.GENOTYPE_LIKELIHOODS_KEY + " format, but no " + + VCFConstants.GENOTYPE_PL_KEY + " field. As the GATK now only manages PL fields internally" + + " automatically adding a corresponding PL field to your VCF header"); + addMetaDataLine(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_PL_KEY, VCFHeaderLineCount.G, VCFHeaderLineType.Integer, "Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification")); + loadMetaDataMaps(); + } + } + + /** + * Add line to map, issuing warnings about duplicates + * + * @param map + * @param line + * @param + */ + private final void addMetaDataMapBinding(final Map map, T line) { + final String key = line.getID(); + if ( map.containsKey(key) ) + logger.debug("Found duplicate VCF header lines for " + key + "; keeping the first only" ); + else + map.put(key, line); } /** @@ -179,33 +230,59 @@ public class VCFHeader { } /** - * get the meta data, associated with this header + * get the meta data, associated with this header, in sorted order * * @return a set of the meta data */ - public Set getMetaData() { - Set lines = new LinkedHashSet(); - lines.add(new VCFHeaderLine(VCFHeaderVersion.VCF4_0.getFormatString(), VCFHeaderVersion.VCF4_0.getVersionString())); - lines.addAll(mMetaData); + public Set getMetaDataInInputOrder() { + return makeGetMetaDataSet(mMetaData); + } + + public Set getMetaDataInSortedOrder() { + return makeGetMetaDataSet(new TreeSet(mMetaData)); + } + + private static Set makeGetMetaDataSet(final Set headerLinesInSomeOrder) { + final Set lines = new LinkedHashSet(); + lines.add(new VCFHeaderLine(VCFHeaderVersion.VCF4_1.getFormatString(), VCFHeaderVersion.VCF4_1.getVersionString())); + lines.addAll(headerLinesInSomeOrder); return Collections.unmodifiableSet(lines); } + /** + * Get the VCFHeaderLine whose key equals key. Returns null if no such line exists + * @param key + * @return + */ + public VCFHeaderLine getMetaDataLine(final String key) { + for (final VCFHeaderLine line: mMetaData) { + if ( line.getKey().equals(key) ) + return line; + } + + return null; + } + /** * get the genotyping sample names * * @return a list of the genotype column names, which may be empty if hasGenotypingData() returns false */ - public Set getGenotypeSamples() { + public List getGenotypeSamples() { return mGenotypeSampleNames; } + public int getNGenotypeSamples() { + return mGenotypeSampleNames.size(); + } + /** * do we have genotyping data? * * @return true if we have genotyping columns, false otherwise */ public boolean hasGenotypingData() { - return mGenotypeSampleNames.size() > 0; + return getNGenotypeSamples() > 0; } /** @@ -222,20 +299,48 @@ public class VCFHeader { return HEADER_FIELDS.values().length + (hasGenotypingData() ? mGenotypeSampleNames.size() + 1 : 0); } - /** - * @param key the header key name - * @return the meta data line, or null if there is none - */ - public VCFInfoHeaderLine getInfoHeaderLine(String key) { - return mInfoMetaData.get(key); + public Collection getInfoHeaderLines() { + return mInfoMetaData.values(); + } + + public Collection getFormatHeaderLines() { + return mFormatMetaData.values(); } /** - * @param key the header key name + * @param id the header key name * @return the meta data line, or null if there is none */ - public VCFFormatHeaderLine getFormatHeaderLine(String key) { - return mFormatMetaData.get(key); + public VCFInfoHeaderLine getInfoHeaderLine(String id) { + return mInfoMetaData.get(id); + } + + /** + * @param id the header key name + * @return the meta data line, or null if there is none + */ + public VCFFormatHeaderLine getFormatHeaderLine(String id) { + return mFormatMetaData.get(id); + } + + /** + * @param id the header key name + * @return the meta data line, or null if there is none + */ + public VCFFilterHeaderLine getFilterHeaderLine(final String id) { + return mFilterMetaData.get(id); + } + + public boolean hasInfoLine(final String id) { + return getInfoHeaderLine(id) != null; + } + + public boolean hasFormatLine(final String id) { + return getFormatHeaderLine(id) != null; + } + + public boolean hasFilterLine(final String id) { + return getFilterHeaderLine(id) != null; } /** @@ -277,4 +382,12 @@ public class VCFHeader { public void setWriteCommandLine(boolean writeCommandLine) { this.writeCommandLine = writeCommandLine; } + + public ArrayList getSampleNamesInOrder() { + return sampleNamesInOrder; + } + + public HashMap getSampleNameToOffset() { + return sampleNameToOffset; + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFHeaderLineTranslator.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFHeaderLineTranslator.java index 88fed75d7..dcc38a6f9 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFHeaderLineTranslator.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFHeaderLineTranslator.java @@ -1,5 +1,7 @@ package org.broadinstitute.sting.utils.codecs.vcf; +import org.broadinstitute.sting.utils.exceptions.UserException; + import java.util.*; /** @@ -75,10 +77,10 @@ class VCF4Parser implements VCFLineParser { index = 0; if ( expectedTagOrder != null ) { if ( ret.size() > expectedTagOrder.size() ) - throw new IllegalArgumentException("Unexpected tag count " + ret.size() + " in string " + expectedTagOrder.size()); + throw new UserException.MalformedVCFHeader("unexpected tag count " + ret.size() + " in line " + valueLine); for ( String str : ret.keySet() ) { if ( !expectedTagOrder.get(index).equals(str) ) - throw new IllegalArgumentException("Unexpected tag " + str + " in string " + valueLine); + throw new UserException.MalformedVCFHeader("Unexpected tag " + str + " in line " + valueLine); index++; } } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFInfoHeaderLine.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFInfoHeaderLine.java index 9b20f38a1..9f249c531 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFInfoHeaderLine.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFInfoHeaderLine.java @@ -17,7 +17,7 @@ public class VCFInfoHeaderLine extends VCFCompoundHeaderLine { super(name, count, type, description, SupportedHeaderLineType.INFO); } - protected VCFInfoHeaderLine(String line, VCFHeaderVersion version) { + public VCFInfoHeaderLine(String line, VCFHeaderVersion version) { super(line, version, SupportedHeaderLineType.INFO); } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFSimpleHeaderLine.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFSimpleHeaderLine.java index 05d603073..c9699e7b5 100644 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFSimpleHeaderLine.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFSimpleHeaderLine.java @@ -14,18 +14,6 @@ public class VCFSimpleHeaderLine extends VCFHeaderLine implements VCFIDHeaderLin private String name; private Map genericFields = new LinkedHashMap(); - /** - * create a VCF filter header line - * - * @param key the key for this header line - * @param name the name for this header line - * @param genericFields other fields for this header line - */ - public VCFSimpleHeaderLine(String key, String name, Map genericFields) { - super(key, ""); - initialize(name, genericFields); - } - /** * create a VCF filter header line * @@ -48,9 +36,12 @@ public class VCFSimpleHeaderLine extends VCFHeaderLine implements VCFIDHeaderLin * @param key the key for this header line * @param expectedTagOrdering the tag ordering expected for this header line */ - protected VCFSimpleHeaderLine(String line, VCFHeaderVersion version, String key, List expectedTagOrdering) { + public VCFSimpleHeaderLine(final String line, final VCFHeaderVersion version, final String key, final List expectedTagOrdering) { + this(key, VCFHeaderLineTranslator.parseLine(version, line, expectedTagOrdering), expectedTagOrdering); + } + + public VCFSimpleHeaderLine(final String key, final Map mapping, final List expectedTagOrdering) { super(key, ""); - Map mapping = VCFHeaderLineTranslator.parseLine(version, line, expectedTagOrdering); name = mapping.get("ID"); initialize(name, mapping); } @@ -87,8 +78,4 @@ public class VCFSimpleHeaderLine extends VCFHeaderLine implements VCFIDHeaderLin public String getID() { return name; } - - public Map getGenericFields() { - return genericFields; - } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFStandardHeaderLines.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFStandardHeaderLines.java new file mode 100644 index 000000000..b2e8cc100 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFStandardHeaderLines.java @@ -0,0 +1,262 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.codecs.vcf; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import org.apache.log4j.Logger; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.util.*; + +/** + * Manages header lines for standard VCF INFO and FORMAT fields + * + * Provides simple mechanisms for registering standard lines, + * looking them up, and adding them to headers + * + * @author Mark DePristo + * @since 6/12 + */ +public class VCFStandardHeaderLines { + /** + * Enabling this causes us to repair header lines even if only their descriptions differ + */ + private final static boolean REPAIR_BAD_DESCRIPTIONS = false; + protected final static Logger logger = Logger.getLogger(VCFStandardHeaderLines.class); + private static Standards formatStandards = new Standards(); + private static Standards infoStandards = new Standards(); + + /** + * Walks over the VCF header and repairs the standard VCF header lines in it, returning a freshly + * allocated VCFHeader with standard VCF header lines repaired as necessary + * + * @param header + * @return + */ + @Requires("header != null") + @Ensures("result != null") + public static VCFHeader repairStandardHeaderLines(final VCFHeader header) { + final Set newLines = new LinkedHashSet(header.getMetaDataInInputOrder().size()); + for ( VCFHeaderLine line : header.getMetaDataInInputOrder() ) { + if ( line instanceof VCFFormatHeaderLine ) { + line = formatStandards.repair((VCFFormatHeaderLine) line); + } else if ( line instanceof VCFInfoHeaderLine) { + line = infoStandards.repair((VCFInfoHeaderLine) line); + } + + newLines.add(line); + } + + return new VCFHeader(newLines, header.getGenotypeSamples()); + } + + /** + * Adds header lines for each of the format fields in IDs to header, returning the set of + * IDs without standard descriptions, unless throwErrorForMissing is true, in which + * case this situation results in a ReviewedStingException + * + * @param IDs + * @return + */ + public static Set addStandardFormatLines(final Set headerLines, final boolean throwErrorForMissing, final Collection IDs) { + return formatStandards.addToHeader(headerLines, IDs, throwErrorForMissing); + } + + /** + * @see #addStandardFormatLines(java.util.Set, boolean, java.util.Collection) + * + * @param headerLines + * @param throwErrorForMissing + * @param IDs + * @return + */ + public static Set addStandardFormatLines(final Set headerLines, final boolean throwErrorForMissing, final String ... IDs) { + return addStandardFormatLines(headerLines, throwErrorForMissing, Arrays.asList(IDs)); + } + + /** + * Returns the standard format line for ID. If none exists, return null or throw an exception, depending + * on throwErrorForMissing + * + * @param ID + * @param throwErrorForMissing + * @return + */ + public static VCFFormatHeaderLine getFormatLine(final String ID, final boolean throwErrorForMissing) { + return formatStandards.get(ID, throwErrorForMissing); + } + + /** + * Returns the standard format line for ID. If none exists throw an exception + * + * @param ID + * @return + */ + public static VCFFormatHeaderLine getFormatLine(final String ID) { + return formatStandards.get(ID, true); + } + + private static void registerStandard(final VCFFormatHeaderLine line) { + formatStandards.add(line); + } + + /** + * Adds header lines for each of the info fields in IDs to header, returning the set of + * IDs without standard descriptions, unless throwErrorForMissing is true, in which + * case this situation results in a ReviewedStingException + * + * @param IDs + * @return + */ + public static Set addStandardInfoLines(final Set headerLines, final boolean throwErrorForMissing, final Collection IDs) { + return infoStandards.addToHeader(headerLines, IDs, throwErrorForMissing); + } + + /** + * @see #addStandardFormatLines(java.util.Set, boolean, java.util.Collection) + * + * @param IDs + * @return + */ + public static Set addStandardInfoLines(final Set headerLines, final boolean throwErrorForMissing, final String ... IDs) { + return addStandardInfoLines(headerLines, throwErrorForMissing, Arrays.asList(IDs)); + } + + /** + * Returns the standard info line for ID. If none exists, return null or throw an exception, depending + * on throwErrorForMissing + * + * @param ID + * @param throwErrorForMissing + * @return + */ + public static VCFInfoHeaderLine getInfoLine(final String ID, final boolean throwErrorForMissing) { + return infoStandards.get(ID, throwErrorForMissing); + } + + /** + * Returns the standard info line for ID. If none exists throw an exception + * + * @param ID + * @return + */ + public static VCFInfoHeaderLine getInfoLine(final String ID) { + return getInfoLine(ID, true); + } + + private static void registerStandard(final VCFInfoHeaderLine line) { + infoStandards.add(line); + } + + + // + // VCF header line constants + // + static { + // FORMAT lines + registerStandard(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_KEY, 1, VCFHeaderLineType.String, "Genotype")); + registerStandard(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_QUALITY_KEY, 1, VCFHeaderLineType.Integer, "Genotype Quality")); + registerStandard(new VCFFormatHeaderLine(VCFConstants.DEPTH_KEY, 1, VCFHeaderLineType.Integer, "Approximate read depth (reads with MQ=255 or with bad mates are filtered)")); + registerStandard(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_PL_KEY, VCFHeaderLineCount.G, VCFHeaderLineType.Integer, "Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification")); + registerStandard(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_ALLELE_DEPTHS, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "Allelic depths for the ref and alt alleles in the order listed")); + registerStandard(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_FILTER_KEY, 1, VCFHeaderLineType.String, "Genotype-level filter")); + + // INFO lines + registerStandard(new VCFInfoHeaderLine(VCFConstants.END_KEY, 1, VCFHeaderLineType.Integer, "Stop position of the interval")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.MLE_ALLELE_COUNT_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Integer, "Maximum likelihood expectation (MLE) for the allele counts (not necessarily the same as the AC), for each ALT allele, in the same order as listed")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.MLE_ALLELE_FREQUENCY_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Float, "Maximum likelihood expectation (MLE) for the allele frequency (not necessarily the same as the AF), for each ALT allele, in the same order as listed")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.DOWNSAMPLED_KEY, 0, VCFHeaderLineType.Flag, "Were any of the samples downsampled?")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.DBSNP_KEY, 0, VCFHeaderLineType.Flag, "dbSNP Membership")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.DEPTH_KEY, 1, VCFHeaderLineType.Integer, "Approximate read depth; some reads may have been filtered")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.STRAND_BIAS_KEY, 1, VCFHeaderLineType.Float, "Strand Bias")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.ALLELE_FREQUENCY_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Float, "Allele Frequency, for each ALT allele, in the same order as listed")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.ALLELE_COUNT_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Integer, "Allele count in genotypes, for each ALT allele, in the same order as listed")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.ALLELE_NUMBER_KEY, 1, VCFHeaderLineType.Integer, "Total number of alleles in called genotypes")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.MAPPING_QUALITY_ZERO_KEY, 1, VCFHeaderLineType.Integer, "Total Mapping Quality Zero Reads")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.RMS_MAPPING_QUALITY_KEY, 1, VCFHeaderLineType.Float, "RMS Mapping Quality")); + registerStandard(new VCFInfoHeaderLine(VCFConstants.SOMATIC_KEY, 0, VCFHeaderLineType.Flag, "Somatic event")); + } + + private static class Standards { + private final Map standards = new HashMap(); + + @Requires("line != null") + @Ensures({"result != null", "result.getID().equals(line.getID())"}) + public T repair(final T line) { + final T standard = get(line.getID(), false); + if ( standard != null ) { + final boolean badCountType = line.getCountType() != standard.getCountType(); + final boolean badCount = line.isFixedCount() && ! badCountType && line.getCount() != standard.getCount(); + final boolean badType = line.getType() != standard.getType(); + final boolean badDesc = ! line.getDescription().equals(standard.getDescription()); + final boolean needsRepair = badCountType || badCount || badType || (REPAIR_BAD_DESCRIPTIONS && badDesc); + + if ( needsRepair ) { + logger.warn("Repairing standard header line for field " + line.getID() + " because" + + (badCountType ? " -- count types disagree; header has " + line.getCountType() + " but standard is " + standard.getCountType() : "") + + (badType ? " -- type disagree; header has " + line.getType() + " but standard is " + standard.getType() : "") + + (badCount ? " -- counts disagree; header has " + line.getCount() + " but standard is " + standard.getCount() : "") + + (badDesc ? " -- descriptions disagree; header has '" + line.getDescription() + "' but standard is '" + standard.getDescription() + "'": "")); + return standard; + } else + return line; + } else + return line; + } + + @Requires("headerLines != null") + @Ensures({"result != null", "result.isEmpty() || ! throwErrorForMissing", "IDs.containsAll(result)"}) + public Set addToHeader(final Set headerLines, final Collection IDs, final boolean throwErrorForMissing) { + final Set missing = new HashSet(); + for ( final String ID : IDs ) { + final T line = get(ID, throwErrorForMissing); + if ( line == null ) + missing.add(ID); + else + headerLines.add(line); + } + + return missing; + } + + @Requires("line != null") + @Ensures({"standards.containsKey(line.getID())"}) + public void add(final T line) { + if ( standards.containsKey(line.getID()) ) + throw new ReviewedStingException("Attempting to add multiple standard header lines for ID " + line.getID()); + standards.put(line.getID(), line); + } + + @Requires("ID != null") + @Ensures({"result != null || ! throwErrorForMissing"}) + public T get(final String ID, final boolean throwErrorForMissing) { + final T x = standards.get(ID); + if ( throwErrorForMissing && x == null ) + throw new ReviewedStingException("Couldn't find a standard VCF header line for field " + ID); + return x; + } + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFUtils.java b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFUtils.java index 238a06243..f80b0eae4 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFUtils.java @@ -25,6 +25,8 @@ package org.broadinstitute.sting.utils.codecs.vcf; +import net.sf.samtools.SAMSequenceDictionary; +import net.sf.samtools.SAMSequenceRecord; import org.apache.log4j.Logger; import org.broad.tribble.Feature; import org.broadinstitute.sting.commandline.RodBinding; @@ -32,6 +34,7 @@ import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.datasources.rmd.ReferenceOrderedDataSource; import org.broadinstitute.sting.utils.variantcontext.VariantContext; +import java.io.File; import java.util.*; /** @@ -123,7 +126,7 @@ public class VCFUtils { if ( source.getRecordType().equals(VariantContext.class)) { VCFHeader header = (VCFHeader)source.getHeader(); if ( header != null ) - fields.addAll(header.getMetaData()); + fields.addAll(header.getMetaDataInSortedOrder()); } } @@ -154,7 +157,7 @@ public class VCFUtils { // todo -- needs to remove all version headers from sources and add its own VCF version line for ( VCFHeader source : headers ) { //System.out.printf("Merging in header %s%n", source); - for ( VCFHeaderLine line : source.getMetaData()) { + for ( VCFHeaderLine line : source.getMetaDataInSortedOrder()) { String key = line.getKey(); if ( line instanceof VCFIDHeaderLine ) @@ -225,4 +228,80 @@ public class VCFUtils { return rsID; } + + /** + * Add / replace the contig header lines in the VCFHeader with the information in the GATK engine + * + * @param header the header to update + * @param engine the GATK engine containing command line arguments and the master sequence dictionary + */ + public final static VCFHeader withUpdatedContigs(final VCFHeader header, final GenomeAnalysisEngine engine) { + return VCFUtils.withUpdatedContigs(header, engine.getArguments().referenceFile, engine.getMasterSequenceDictionary()); + } + + /** + * Add / replace the contig header lines in the VCFHeader with the in the reference file and master reference dictionary + * + * @param oldHeader the header to update + * @param referenceFile the file path to the reference sequence used to generate this vcf + * @param refDict the SAM formatted reference sequence dictionary + */ + public final static VCFHeader withUpdatedContigs(final VCFHeader oldHeader, final File referenceFile, final SAMSequenceDictionary refDict) { + return new VCFHeader(withUpdatedContigsAsLines(oldHeader.getMetaDataInInputOrder(), referenceFile, refDict), oldHeader.getGenotypeSamples()); + } + + public final static Set withUpdatedContigsAsLines(final Set oldLines, final File referenceFile, final SAMSequenceDictionary refDict) { + final Set lines = new LinkedHashSet(oldLines.size()); + + for ( final VCFHeaderLine line : oldLines ) { + if ( line instanceof VCFContigHeaderLine ) + continue; // skip old contig lines + if ( line.getKey().equals(VCFHeader.REFERENCE_KEY) ) + continue; // skip the old reference key + lines.add(line); + } + + for ( final VCFHeaderLine contigLine : makeContigHeaderLines(refDict, referenceFile) ) + lines.add(contigLine); + + lines.add(new VCFHeaderLine(VCFHeader.REFERENCE_KEY, "file://" + referenceFile.getAbsolutePath())); + return lines; + } + + /** + * Create VCFHeaderLines for each refDict entry, and optionally the assembly if referenceFile != null + * @param refDict + * @param referenceFile for assembly name. May be null + * @return + */ + public final static List makeContigHeaderLines(final SAMSequenceDictionary refDict, + final File referenceFile) { + final List lines = new ArrayList(); + final String assembly = referenceFile != null ? getReferenceAssembly(referenceFile.getName()) : null; + for ( SAMSequenceRecord contig : refDict.getSequences() ) + lines.add(makeContigHeaderLine(contig, assembly)); + return lines; + } + + private final static VCFContigHeaderLine makeContigHeaderLine(final SAMSequenceRecord contig, final String assembly) { + final Map map = new LinkedHashMap(3); + map.put("ID", contig.getSequenceName()); + map.put("length", String.valueOf(contig.getSequenceLength())); + if ( assembly != null ) map.put("assembly", assembly); + return new VCFContigHeaderLine(VCFHeader.CONTIG_KEY, map, contig.getSequenceIndex()); + } + + private final static String getReferenceAssembly(final String refPath) { + // This doesn't need to be perfect as it's not a required VCF header line, but we might as well give it a shot + String assembly = null; + if (refPath.contains("b37") || refPath.contains("v37")) + assembly = "b37"; + else if (refPath.contains("b36")) + assembly = "b36"; + else if (refPath.contains("hg18")) + assembly = "hg18"; + else if (refPath.contains("hg19")) + assembly = "hg19"; + return assembly; + } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/collections/NestedHashMap.java b/public/java/src/org/broadinstitute/sting/utils/collections/NestedHashMap.java index 8652d3c28..f8e75e486 100755 --- a/public/java/src/org/broadinstitute/sting/utils/collections/NestedHashMap.java +++ b/public/java/src/org/broadinstitute/sting/utils/collections/NestedHashMap.java @@ -25,7 +25,9 @@ package org.broadinstitute.sting.utils.collections; +import java.util.ArrayList; import java.util.HashMap; +import java.util.List; import java.util.Map; /** @@ -40,17 +42,12 @@ public class NestedHashMap { public Object get( final Object... keys ) { Map map = this.data; - final int keysLength = keys.length; - for( int iii = 0; iii < keysLength; iii++ ) { - if( iii == keysLength - 1 ) { - return map.get(keys[iii]); - } else { - map = (Map) map.get(keys[iii]); - if( map == null ) { return null; } - } + final int nestedMaps = keys.length - 1; + for( int iii = 0; iii < nestedMaps; iii++ ) { + map = (Map) map.get(keys[iii]); + if( map == null ) { return null; } } - - return null; + return map.get(keys[nestedMaps]); } public synchronized void put( final Object value, final Object... keys ) { // WARNING! value comes before the keys! @@ -83,4 +80,53 @@ public class NestedHashMap { return value; // todo -- should never reach this point } + + public List getAllValues() { + final List result = new ArrayList(); + fillAllValues(data, result); + return result; + } + + private void fillAllValues(final Map map, final List result) { + for ( Object value : map.values() ) { + if ( value == null ) + continue; + if ( value instanceof Map ) + fillAllValues((Map)value, result); + else + result.add(value); + } + } + + public static class Leaf { + public final List keys; + public final Object value; + + public Leaf(final List keys, final Object value) { + this.keys = keys; + this.value = value; + } + } + + public List getAllLeaves() { + final List result = new ArrayList(); + final List path = new ArrayList(); + fillAllLeaves(data, path, result); + return result; + } + + private void fillAllLeaves(final Map map, final List path, final List result) { + for ( final Object key : map.keySet() ) { + final Object value = map.get(key); + if ( value == null ) + continue; + final List newPath = new ArrayList(path); + newPath.add(key); + if ( value instanceof Map ) { + fillAllLeaves((Map) value, newPath, result); + } else { + result.add(new Leaf(newPath, value)); + } + } + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/collections/NestedIntegerArray.java b/public/java/src/org/broadinstitute/sting/utils/collections/NestedIntegerArray.java new file mode 100755 index 000000000..31d316555 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/collections/NestedIntegerArray.java @@ -0,0 +1,143 @@ +/* + * Copyright (c) 2010 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.collections; + +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.util.ArrayList; +import java.util.List; + +/** + * Created by IntelliJ IDEA. + * User: ebanks + * Date: July 1, 2012 + */ + +public class NestedIntegerArray { + + protected final Object[] data; + + protected final int numDimensions; + protected final int[] dimensions; + + public NestedIntegerArray(final int... dimensions) { + numDimensions = dimensions.length; + if ( numDimensions == 0 ) + throw new ReviewedStingException("There must be at least one dimension to an NestedIntegerArray"); + this.dimensions = dimensions.clone(); + + data = new Object[dimensions[0]]; + } + + public T get(final int... keys) { + final int numNestedDimensions = numDimensions - 1; + Object[] myData = data; + + for( int i = 0; i < numNestedDimensions; i++ ) { + if ( keys[i] >= dimensions[i] ) + return null; + myData = (Object[])myData[keys[i]]; + if ( myData == null ) + return null; + } + return (T)myData[keys[numNestedDimensions]]; + } + + public synchronized void put(final T value, final int... keys) { // WARNING! value comes before the keys! + if ( keys.length != numDimensions ) + throw new ReviewedStingException("Exactly " + numDimensions + " keys should be passed to this NestedIntegerArray but " + keys.length + " were provided"); + + final int numNestedDimensions = numDimensions - 1; + Object[] myData = data; + for ( int i = 0; i < numNestedDimensions; i++ ) { + if ( keys[i] >= dimensions[i] ) + throw new ReviewedStingException("Key " + keys[i] + " is too large for dimension " + i + " (max is " + (dimensions[i]-1) + ")"); + Object[] temp = (Object[])myData[keys[i]]; + if ( temp == null ) { + temp = new Object[dimensions[i+1]]; + myData[keys[i]] = temp; + } + myData = temp; + } + + myData[keys[numNestedDimensions]] = value; + } + + public List getAllValues() { + final List result = new ArrayList(); + fillAllValues(data, result); + return result; + } + + private void fillAllValues(final Object[] array, final List result) { + for ( Object value : array ) { + if ( value == null ) + continue; + if ( value instanceof Object[] ) + fillAllValues((Object[])value, result); + else + result.add((T)value); + } + } + + public static class Leaf { + public final int[] keys; + public final Object value; + + public Leaf(final int[] keys, final Object value) { + this.keys = keys; + this.value = value; + } + } + + public List getAllLeaves() { + final List result = new ArrayList(); + fillAllLeaves(data, new int[0], result); + return result; + } + + private void fillAllLeaves(final Object[] array, final int[] path, final List result) { + for ( int key = 0; key < array.length; key++ ) { + final Object value = array[key]; + if ( value == null ) + continue; + final int[] newPath = appendToPath(path, key); + if ( value instanceof Object[] ) { + fillAllLeaves((Object[]) value, newPath, result); + } else { + result.add(new Leaf(newPath, value)); + } + } + } + + private int[] appendToPath(final int[] path, final int newKey) { + final int[] newPath = new int[path.length + 1]; + for ( int i = 0; i < path.length; i++ ) + newPath[i] = path[i]; + newPath[path.length] = newKey; + return newPath; + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/exceptions/UserException.java b/public/java/src/org/broadinstitute/sting/utils/exceptions/UserException.java index fd0cf7869..f950cbfb3 100755 --- a/public/java/src/org/broadinstitute/sting/utils/exceptions/UserException.java +++ b/public/java/src/org/broadinstitute/sting/utils/exceptions/UserException.java @@ -27,14 +27,12 @@ package org.broadinstitute.sting.utils.exceptions; import net.sf.samtools.SAMFileHeader; import net.sf.samtools.SAMRecord; import net.sf.samtools.SAMSequenceDictionary; -import net.sf.samtools.SAMSequenceRecord; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; import org.broadinstitute.sting.utils.sam.ReadUtils; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.io.File; -import java.util.Arrays; /** * Represents the common user errors detected by Sting / GATK @@ -53,6 +51,11 @@ public class UserException extends ReviewedStingException { public UserException(String msg, Throwable e) { super(msg, e); } private UserException(Throwable e) { super("", e); } // cannot be called, private access + protected static String getMessage(Throwable t) { + String message = t.getMessage(); + return message != null ? message : t.getClass().getName(); + } + public static class CommandLineException extends UserException { public CommandLineException(String message) { super(String.format("Invalid command line: %s", message)); @@ -75,6 +78,12 @@ public class UserException extends ReviewedStingException { } } + public static class NotSupportedInGATKLite extends UserException { + public NotSupportedInGATKLite(String message) { + super(String.format("GATK Lite does support all of the features of the full version: %s", message)); + } + } + // todo -- fix up exception cause passing public static class MissingArgument extends CommandLineException { public MissingArgument(String arg, String message) { @@ -121,7 +130,7 @@ public class UserException extends ReviewedStingException { public static class CouldNotReadInputFile extends UserException { public CouldNotReadInputFile(String message, Exception e) { - super(String.format("Couldn't read file because %s caused by %s", message, e.getMessage())); + super(String.format("Couldn't read file because %s caused by %s", message, getMessage(e))); } public CouldNotReadInputFile(File file) { @@ -133,11 +142,11 @@ public class UserException extends ReviewedStingException { } public CouldNotReadInputFile(File file, String message, Exception e) { - super(String.format("Couldn't read file %s because %s with exception %s", file.getAbsolutePath(), message, e.getMessage())); + super(String.format("Couldn't read file %s because %s with exception %s", file.getAbsolutePath(), message, getMessage(e))); } public CouldNotReadInputFile(File file, Exception e) { - this(file, e.getMessage()); + this(file, getMessage(e)); } public CouldNotReadInputFile(String message) { @@ -148,7 +157,7 @@ public class UserException extends ReviewedStingException { public static class CouldNotCreateOutputFile extends UserException { public CouldNotCreateOutputFile(File file, String message, Exception e) { - super(String.format("Couldn't write file %s because %s with exception %s", file.getAbsolutePath(), message, e.getMessage())); + super(String.format("Couldn't write file %s because %s with exception %s", file.getAbsolutePath(), message, getMessage(e))); } public CouldNotCreateOutputFile(File file, String message) { @@ -156,11 +165,11 @@ public class UserException extends ReviewedStingException { } public CouldNotCreateOutputFile(String filename, String message, Exception e) { - super(String.format("Couldn't write file %s because %s with exception %s", filename, message, e.getMessage())); + super(String.format("Couldn't write file %s because %s with exception %s", filename, message, getMessage(e))); } public CouldNotCreateOutputFile(File file, Exception e) { - super(String.format("Couldn't write file %s because exception %s", file.getAbsolutePath(), e.getMessage())); + super(String.format("Couldn't write file %s because exception %s", file.getAbsolutePath(), getMessage(e))); } public CouldNotCreateOutputFile(String message, Exception e) { @@ -215,6 +224,12 @@ public class UserException extends ReviewedStingException { } } + public static class MalformedBCF2 extends UserException { + public MalformedBCF2( String message ) { + super(String.format("Malformed BCF2 file: %s", message)); + } + } + public static class MalformedVCFHeader extends UserException { public MalformedVCFHeader(String message) { super(String.format("The provided VCF file has a malformed header: %s", message)); @@ -235,7 +250,7 @@ public class UserException extends ReviewedStingException { public static class MissortedFile extends UserException { public MissortedFile(File file, String message, Exception e) { - super(String.format("Missorted Input file: %s is must be sorted in coordinate order. %s and got error %s", file, message, e.getMessage())); + super(String.format("Missorted Input file: %s is must be sorted in coordinate order. %s and got error %s", file, message, getMessage(e))); } } @@ -245,7 +260,7 @@ public class UserException extends ReviewedStingException { } public MalformedFile(String message, Exception e) { - super(String.format("Unknown file is malformed: %s caused by %s", message, e.getMessage())); + super(String.format("Unknown file is malformed: %s caused by %s", message, getMessage(e))); } public MalformedFile(File f, String message) { @@ -253,7 +268,7 @@ public class UserException extends ReviewedStingException { } public MalformedFile(File f, String message, Exception e) { - super(String.format("File %s is malformed: %s caused by %s", f.getAbsolutePath(), message, e.getMessage())); + super(String.format("File %s is malformed: %s caused by %s", f.getAbsolutePath(), message, getMessage(e))); } public MalformedFile(String name, String message) { @@ -261,7 +276,7 @@ public class UserException extends ReviewedStingException { } public MalformedFile(String name, String message, Exception e) { - super(String.format("File associated with name %s is malformed: %s caused by %s", name, message, e.getMessage())); + super(String.format("File associated with name %s is malformed: %s caused by %s", name, message, getMessage(e))); } } @@ -320,7 +335,7 @@ public class UserException extends ReviewedStingException { public CouldNotCreateReferenceIndexFile(File f, String message, Exception e) { super(String.format("Index file %s does not exist but could not be created because: %s. ", f, message) - + (e == null ? "" : e.getMessage())); + + (e == null ? "" : getMessage(e))); } } @@ -337,11 +352,11 @@ public class UserException extends ReviewedStingException { public UnreadableKeyException ( File f, Exception e ) { super(String.format("Key file %s cannot be read (possibly the key file is corrupt?). Error was: %s. " + "Please see http://www.broadinstitute.org/gsa/wiki/index.php/Phone_home for help.", - f.getAbsolutePath(), e.getMessage())); + f.getAbsolutePath(), getMessage(e))); } public UnreadableKeyException ( String message, Exception e ) { - this(String.format("%s. Error was: %s", message, e.getMessage())); + this(String.format("%s. Error was: %s", message, getMessage(e))); } public UnreadableKeyException ( String message ) { diff --git a/public/java/src/org/broadinstitute/sting/utils/fragments/FragmentUtils.java b/public/java/src/org/broadinstitute/sting/utils/fragments/FragmentUtils.java index 858f7a2ae..c6eec24f1 100644 --- a/public/java/src/org/broadinstitute/sting/utils/fragments/FragmentUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/fragments/FragmentUtils.java @@ -135,7 +135,7 @@ public class FragmentUtils { GATKSAMRecord firstRead = overlappingPair.get(0); GATKSAMRecord secondRead = overlappingPair.get(1); if( !(secondRead.getUnclippedStart() <= firstRead.getUnclippedEnd() && secondRead.getUnclippedStart() >= firstRead.getUnclippedStart() && secondRead.getUnclippedEnd() >= firstRead.getUnclippedEnd()) ) { - firstRead = overlappingPair.get(1); + firstRead = overlappingPair.get(1); // swap them secondRead = overlappingPair.get(0); } if( !(secondRead.getUnclippedStart() <= firstRead.getUnclippedEnd() && secondRead.getUnclippedStart() >= firstRead.getUnclippedStart() && secondRead.getUnclippedEnd() >= firstRead.getUnclippedEnd()) ) { @@ -166,6 +166,9 @@ public class FragmentUtils { if( firstReadQuals[iii] > MIN_QUAL_BAD_OVERLAP && secondReadQuals[iii-firstReadStop] > MIN_QUAL_BAD_OVERLAP && firstReadBases[iii] != secondReadBases[iii-firstReadStop] ) { return overlappingPair;// high qual bases don't match exactly, probably indel in only one of the fragments, so don't merge them } + if( firstReadQuals[iii] < MIN_QUAL_BAD_OVERLAP && secondReadQuals[iii-firstReadStop] < MIN_QUAL_BAD_OVERLAP ) { + return overlappingPair; // both reads have low qual bases in the overlap region so don't merge them because don't know what is going on + } bases[iii] = ( firstReadQuals[iii] > secondReadQuals[iii-firstReadStop] ? firstReadBases[iii] : secondReadBases[iii-firstReadStop] ); quals[iii] = ( firstReadQuals[iii] > secondReadQuals[iii-firstReadStop] ? firstReadQuals[iii] : secondReadQuals[iii-firstReadStop] ); } @@ -174,12 +177,13 @@ public class FragmentUtils { quals[iii] = secondReadQuals[iii-firstReadStop]; } - final GATKSAMRecord returnRead = new GATKSAMRecord(firstRead.getHeader()); - returnRead.setAlignmentStart(firstRead.getUnclippedStart()); + final GATKSAMRecord returnRead = new GATKSAMRecord( firstRead.getHeader() ); + returnRead.setAlignmentStart( firstRead.getUnclippedStart() ); returnRead.setReadBases( bases ); returnRead.setBaseQualities( quals ); returnRead.setReadGroup( firstRead.getReadGroup() ); returnRead.setReferenceName( firstRead.getReferenceName() ); + returnRead.setReadName( firstRead.getReadName() ); final CigarElement c = new CigarElement(bases.length, CigarOperator.M); final ArrayList cList = new ArrayList(); cList.add(c); diff --git a/public/java/src/org/broadinstitute/sting/utils/gcf/GCF.java b/public/java/src/org/broadinstitute/sting/utils/gcf/GCF.java deleted file mode 100644 index b4ad81c02..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/gcf/GCF.java +++ /dev/null @@ -1,253 +0,0 @@ -/* - * Copyright (c) 2011, The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.utils.gcf; - -import org.broadinstitute.sting.utils.codecs.vcf.StandardVCFWriter; -import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.variantcontext.*; - -import java.io.*; -import java.util.*; - -/** - * GATK binary VCF record - * - * @author Your Name - * @since Date created - */ -public class GCF { - private final static int RECORD_TERMINATOR = 123456789; - private int chromOffset; - private int start, stop; - private String id; - private List alleleMap; - private int alleleOffsets[]; - private float qual; - private byte refPad; - private String info; - private int filterOffset; - - private List genotypes = Collections.emptyList(); - - public GCF(final GCFHeaderBuilder GCFHeaderBuilder, final VariantContext vc, boolean skipGenotypes) { - chromOffset = GCFHeaderBuilder.encodeString(vc.getChr()); - start = vc.getStart(); - stop = vc.getEnd(); - refPad = vc.hasReferenceBaseForIndel() ? vc.getReferenceBaseForIndel() : 0; - id = vc.getID(); - - // encode alleles - alleleMap = new ArrayList(vc.getNAlleles()); - alleleOffsets = new int[vc.getNAlleles()]; - alleleMap.add(vc.getReference()); - alleleOffsets[0] = GCFHeaderBuilder.encodeAllele(vc.getReference()); - for ( int i = 0; i < vc.getAlternateAlleles().size(); i++ ) { - alleleMap.add(vc.getAlternateAllele(i)); - alleleOffsets[i+1] = GCFHeaderBuilder.encodeAllele(vc.getAlternateAllele(i)); - } - - qual = (float)vc.getLog10PError(); //qualToByte(vc.getPhredScaledQual()); - info = infoFieldString(vc, GCFHeaderBuilder); - filterOffset = GCFHeaderBuilder.encodeString(StandardVCFWriter.getFilterString(vc)); - - if ( ! skipGenotypes ) { - genotypes = encodeGenotypes(GCFHeaderBuilder, vc); - } - } - - public GCF(DataInputStream inputStream, boolean skipGenotypes) throws IOException, EOFException { - chromOffset = inputStream.readInt(); - - // have we reached the footer? - if ( chromOffset == GCFHeader.FOOTER_START_MARKER ) - throw new EOFException(); - - start = inputStream.readInt(); - stop = inputStream.readInt(); - id = inputStream.readUTF(); - refPad = inputStream.readByte(); - alleleOffsets = readIntArray(inputStream); - qual = inputStream.readFloat(); - info = inputStream.readUTF(); - filterOffset = inputStream.readInt(); - - int nGenotypes = inputStream.readInt(); - int sizeOfGenotypes = inputStream.readInt(); - if ( skipGenotypes ) { - genotypes = Collections.emptyList(); - inputStream.skipBytes(sizeOfGenotypes); - } else { - genotypes = new ArrayList(nGenotypes); - for ( int i = 0; i < nGenotypes; i++ ) - genotypes.add(new GCFGenotype(this, inputStream)); - } - - int recordDone = inputStream.readInt(); - if ( recordDone != RECORD_TERMINATOR ) - throw new UserException.MalformedFile("Record not terminated by RECORD_TERMINATOR key"); - } - - public int write(DataOutputStream outputStream) throws IOException { - int startSize = outputStream.size(); - outputStream.writeInt(chromOffset); - outputStream.writeInt(start); - outputStream.writeInt(stop); - outputStream.writeUTF(id); - outputStream.writeByte(refPad); - writeIntArray(alleleOffsets, outputStream, true); - outputStream.writeFloat(qual); - outputStream.writeUTF(info); - outputStream.writeInt(filterOffset); - - int nGenotypes = genotypes.size(); - int expectedSizeOfGenotypes = nGenotypes == 0 ? 0 : genotypes.get(0).sizeInBytes() * nGenotypes; - outputStream.writeInt(nGenotypes); - outputStream.writeInt(expectedSizeOfGenotypes); - int obsSizeOfGenotypes = 0; - for ( GCFGenotype g : genotypes ) - obsSizeOfGenotypes += g.write(outputStream); - if ( obsSizeOfGenotypes != expectedSizeOfGenotypes ) - throw new RuntimeException("Expect and observed genotype sizes disagree! expect = " + expectedSizeOfGenotypes + " obs =" + obsSizeOfGenotypes); - - outputStream.writeInt(RECORD_TERMINATOR); - return outputStream.size() - startSize; - } - - public VariantContext decode(final String source, final GCFHeader header) { - final String contig = header.getString(chromOffset); - alleleMap = header.getAlleles(alleleOffsets); - - VariantContextBuilder builder = new VariantContextBuilder(source, contig, start, stop, alleleMap); - builder.genotypes(decodeGenotypes(header)); - builder.log10PError(qual); - builder.filters(header.getFilters(filterOffset)); - builder.attribute("INFO", info); - builder.referenceBaseForIndel(refPad == 0 ? null : refPad); - return builder.make(); - } - - private GenotypesContext decodeGenotypes(final GCFHeader header) { - if ( genotypes.isEmpty() ) - return VariantContext.NO_GENOTYPES; - else { - GenotypesContext map = GenotypesContext.create(genotypes.size()); - - for ( int i = 0; i < genotypes.size(); i++ ) { - final String sampleName = header.getSample(i); - final Genotype g = genotypes.get(i).decode(sampleName, header, this, alleleMap); - map.add(g); - } - - return map; - } - } - - private List encodeGenotypes(final GCFHeaderBuilder GCFHeaderBuilder, final VariantContext vc) { - int nGenotypes = vc.getNSamples(); - if ( nGenotypes > 0 ) { - List genotypes = new ArrayList(nGenotypes); - for ( int i = 0; i < nGenotypes; i++ ) genotypes.add(null); - - for ( Genotype g : vc.getGenotypes() ) { - int i = GCFHeaderBuilder.encodeSample(g.getSampleName()); - genotypes.set(i, new GCFGenotype(GCFHeaderBuilder, alleleMap, g)); - } - - return genotypes; - } else { - return Collections.emptyList(); - } - } - - public int getNAlleles() { return alleleOffsets.length; } - - - private final String infoFieldString(VariantContext vc, final GCFHeaderBuilder GCFHeaderBuilder) { - StringBuilder s = new StringBuilder(); - - boolean first = true; - for ( Map.Entry field : vc.getAttributes().entrySet() ) { - String key = field.getKey(); - int stringIndex = GCFHeaderBuilder.encodeString(key); - String outputValue = StandardVCFWriter.formatVCFField(field.getValue()); - if ( outputValue != null ) { - if ( ! first ) s.append(";"); - s.append(stringIndex).append("=").append(outputValue); - first = false; - } - } - - return s.toString(); - } - - protected final static int BUFFER_SIZE = 1048576; // 2**20 - - public static DataInputStream createDataInputStream(final InputStream stream) { - return new DataInputStream(new BufferedInputStream(stream, BUFFER_SIZE)); - } - - public static FileInputStream createFileInputStream(final File file) throws FileNotFoundException { - return new FileInputStream(file); - } - - protected final static int[] readIntArray(final DataInputStream inputStream) throws IOException { - return readIntArray(inputStream, inputStream.readInt()); - } - - protected final static int[] readIntArray(final DataInputStream inputStream, int size) throws IOException { - int[] array = new int[size]; - for ( int i = 0; i < array.length; i++ ) - array[i] = inputStream.readInt(); - return array; - } - - protected final static void writeIntArray(int[] array, final DataOutputStream outputStream, boolean writeSize) throws IOException { - if ( writeSize ) outputStream.writeInt(array.length); - for ( int i : array ) - outputStream.writeInt(i); - } - - protected final static byte[] readByteArray(final DataInputStream inputStream) throws IOException { - return readByteArray(inputStream, inputStream.readInt()); - } - - protected final static byte[] readByteArray(final DataInputStream inputStream, int size) throws IOException { - byte[] array = new byte[size]; - for ( int i = 0; i < array.length; i++ ) - array[i] = inputStream.readByte(); - return array; - } - - protected final static void writeByteArray(byte[] array, final DataOutputStream outputStream, boolean writeSize) throws IOException { - if ( writeSize ) outputStream.writeInt(array.length); - for ( byte i : array ) - outputStream.writeByte(i); - } - - protected final static byte qualToByte(double phredScaledQual) { - return (byte)Math.round(Math.min(phredScaledQual, 255)); - } -} diff --git a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFGenotype.java b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFGenotype.java deleted file mode 100644 index f8fdd9291..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFGenotype.java +++ /dev/null @@ -1,147 +0,0 @@ -/* - * Copyright (c) 2011, The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.utils.gcf; - -import org.broadinstitute.sting.utils.variantcontext.Allele; -import org.broadinstitute.sting.utils.variantcontext.Genotype; - -import java.io.DataInputStream; -import java.io.DataOutputStream; -import java.io.IOException; -import java.util.*; - -/** - * GATK binary VCF record - * - * @author Your Name - * @since Date created - */ -public class GCFGenotype { - private byte gq; - private int gt; - private int dp; - private int ad[]; - private byte[] pl; - - // todo -- what to do about phasing? Perhaps we shouldn't support it - // todo -- is the FL field generic or just a flag? Should we even support per sample filtering? - - public GCFGenotype(final GCFHeaderBuilder GCFHeaderBuilder, final List allAlleles, Genotype genotype) { - gq = GCF.qualToByte(genotype.getPhredScaledQual()); - gt = encodeAlleles(genotype.getAlleles(), allAlleles); - - dp = genotype.getAttributeAsInt("DP", 0); - - int nAlleles = allAlleles.size(); - ad = new int[nAlleles]; - - int npls = nAllelesToNPls(nAlleles); - pl = new byte[npls]; - } - - private int nAllelesToNPls( int nAlleles ) { - return nAlleles*(nAlleles+1) / 2; - } - - public GCFGenotype(GCF GCF, DataInputStream inputStream) throws IOException { - int gqInt = inputStream.readUnsignedByte(); - gq = (byte)gqInt; - gt = inputStream.readInt(); - dp = inputStream.readInt(); - ad = GCF.readIntArray(inputStream, GCF.getNAlleles()); - pl = GCF.readByteArray(inputStream, nAllelesToNPls(GCF.getNAlleles())); - } - - // 2 alleles => 1 + 8 + 8 + 3 => 20 - protected int sizeInBytes() { - return 1 // gq - + 4 * 2 // gt + dp - + 4 * ad.length // ad - + 1 * pl.length; // pl - } - - public Genotype decode(final String sampleName, final GCFHeader header, GCF GCF, List alleleIndex) { - final List alleles = decodeAlleles(gt, alleleIndex); - final double log10PError = gq / -10.0; - final Set filters = Collections.emptySet(); - final Map attributes = new HashMap(); - attributes.put("DP", dp); - attributes.put("AD", ad); - attributes.put("PL", pl); - - return new Genotype(sampleName, alleles, log10PError, filters, attributes, false); - } - - private static int encodeAlleles(List gtList, List allAlleles) { - final int nAlleles = gtList.size(); - if ( nAlleles > 4 ) - throw new IllegalArgumentException("encodeAlleles doesn't support more than 4 alt alleles, but I saw " + gtList); - - int gtInt = 0; - for ( int i = 0; i < nAlleles ; i++ ) { - final int bitOffset = i * 8; - final int allelei = getAlleleIndex(gtList.get(i), allAlleles); - final int gti = (allelei + 1) << bitOffset; - gtInt = gtInt | gti; - } - - return gtInt; - } - - private static int getAlleleIndex(Allele q, List allAlleles) { - if ( q.isNoCall() ) - return 254; - for ( int i = 0; i < allAlleles.size(); i++ ) - if ( q.equals(allAlleles.get(i)) ) - return i; - throw new IllegalStateException("getAlleleIndex passed allele not in map! allele " + q + " allAlleles " + allAlleles); - } - - private static List decodeAlleles(int gtInt, List alleleIndex) { - List alleles = new ArrayList(4); - - for ( int i = 0; i < 32; i += 8 ) { - final int gi = (gtInt & (0x000000FF << i)) >> i; - if ( gi != 0 ) { - final int allelei = gi - 1; - alleles.add( allelei == 254 ? Allele.NO_CALL : alleleIndex.get(allelei) ); - } else { - break; - } - } - - return alleles; - } - - public int write(DataOutputStream outputStream) throws IOException { - int startSize = outputStream.size(); - outputStream.writeByte(gq); - outputStream.writeInt(gt); - outputStream.writeInt(dp); - GCF.writeIntArray(ad, outputStream, false); - GCF.writeByteArray(pl, outputStream, false); - return outputStream.size() - startSize; - } -} diff --git a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeader.java b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeader.java deleted file mode 100644 index 6d96eda56..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeader.java +++ /dev/null @@ -1,205 +0,0 @@ -/* - * Copyright (c) 2011, The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.utils.gcf; - -import org.apache.log4j.Logger; -import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; -import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.variantcontext.Allele; - -import java.io.*; -import java.util.*; - -/** - * [Short one sentence description of this walker] - *

- *

- * [Functionality of this walker] - *

- *

- *

Input

- *

- * [Input description] - *

- *

- *

Output

- *

- * [Output description] - *

- *

- *

Examples

- *
- *    java
- *      -jar GenomeAnalysisTK.jar
- *      -T $WalkerName
- *  
- * - * @author Your Name - * @since Date created - */ -public class GCFHeader { - final protected static Logger logger = Logger.getLogger(GCFHeader.class); - - public final static int GCF_VERSION = 1; - public final static byte[] GCF_FILE_START_MARKER = "GCF\1".getBytes(); - public final static int FOOTER_START_MARKER = -1; - public final static long HEADER_FORWARD_REFERENCE_OFFSET = GCF_FILE_START_MARKER.length + 4; // for the version - - final int version; - long footerPosition; - final List alleles; - final List strings; - final List samples; - final List> filters; - - public GCFHeader(final Map allelesIn, final Map stringIn, final Map samplesIn) { - version = GCF_VERSION; - footerPosition = 0; - this.alleles = linearize(allelesIn); - this.strings = linearize(stringIn); - this.samples = linearize(samplesIn); - this.filters = null; // not used with this constructor - } - - public GCFHeader(FileInputStream fileInputStream) throws IOException { - DataInputStream inputStream = new DataInputStream(fileInputStream); - byte[] headerTest = new byte[GCF_FILE_START_MARKER.length]; - inputStream.read(headerTest); - if ( ! Arrays.equals(headerTest, GCF_FILE_START_MARKER) ) { - throw new UserException("Could not read GVCF file. GCF_FILE_START_MARKER missing. Saw " + new String(headerTest)); - } else { - version = inputStream.readInt(); - logger.info("Read GCF version " + version); - footerPosition = inputStream.readLong(); - logger.info("Read footer position of " + footerPosition); - long lastPos = fileInputStream.getChannel().position(); - logger.info(" Last position is " + lastPos); - - // seek to the footer - fileInputStream.getChannel().position(footerPosition); - if ( inputStream.readInt() != FOOTER_START_MARKER ) - throw new UserException.MalformedFile("Malformed GCF file: couldn't find the footer marker"); - alleles = stringsToAlleles(readStrings(inputStream)); - strings = readStrings(inputStream); - samples = readStrings(inputStream); - logger.info(String.format("Allele map of %d elements", alleles.size())); - logger.info(String.format("String map of %d elements", strings.size())); - logger.info(String.format("Sample map of %d elements", samples.size())); - filters = initializeFilterCache(); - fileInputStream.getChannel().position(lastPos); - } - } - - public static int writeHeader(final DataOutputStream outputStream) throws IOException { - int startBytes = outputStream.size(); - outputStream.write(GCF_FILE_START_MARKER); - outputStream.writeInt(GCF_VERSION); - outputStream.writeLong(0); - return outputStream.size() - startBytes; - } - - public int writeFooter(final DataOutputStream outputStream) throws IOException { - int startBytes = outputStream.size(); - outputStream.writeInt(FOOTER_START_MARKER); // has to be the same as chrom encoding - write(outputStream, allelesToStrings(alleles)); - write(outputStream, strings); - write(outputStream, samples); - return outputStream.size() - startBytes; - } - - private void write(DataOutputStream outputStream, List l) throws IOException { - outputStream.writeInt(l.size()); - for ( String elt : l ) outputStream.writeUTF(elt); - } - - private List allelesToStrings(List alleles) { - List strings = new ArrayList(alleles.size()); - for ( Allele allele : alleles ) strings.add(allele.toString()); - return strings; - } - - private List> initializeFilterCache() { - // required to allow offset -> set lookup - List> l = new ArrayList>(strings.size()); - for ( int i = 0; i < strings.size(); i++ ) l.add(null); - return l; - } - - private static List stringsToAlleles(final List strings) { - final List alleles = new ArrayList(strings.size()); - for ( String string : strings ) { - boolean isRef = string.endsWith("*"); - if ( isRef ) string = string.substring(0, string.length() - 1); - alleles.add(Allele.create(string, isRef)); - } - return alleles; - } - - private static List readStrings(final DataInputStream inputStream) throws IOException { - final int nStrings = inputStream.readInt(); - - final List strings = new ArrayList(nStrings); - for ( int i = 0; i < nStrings; i++ ) { - strings.add(inputStream.readUTF()); - } - - return strings; - } - - private static List linearize(final Map map) { - final ArrayList l = new ArrayList(map.size()); - for ( int i = 0; i < map.size(); i++ ) l.add(null); - for ( final Map.Entry elt : map.entrySet() ) - l.set(elt.getValue(), elt.getKey()); - return l; - } - - public String getSample(final int offset) { return samples.get(offset); } - public String getString(final int offset) { return strings.get(offset); } - public Allele getAllele(final int offset) { return alleles.get(offset); } - public List getAlleles(final int[] offsets) { - final List alleles = new ArrayList(offsets.length); - for ( int i : offsets ) alleles.add(getAllele(i)); - return alleles; - } - - public Set getFilters(final int offset) { - Set cached = filters.get(offset); - - if ( cached != null ) - return cached; - else { - final String filterString = getString(offset); - if ( filterString.equals(VCFConstants.UNFILTERED) ) - return null; // UNFILTERED records are represented by null - else { - Set set = VCFCodec.parseFilters(null, -1, filterString); - filters.set(offset, set); // remember the result - return set; - } - } - } -} diff --git a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeaderBuilder.java b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeaderBuilder.java deleted file mode 100644 index 40e01ec72..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFHeaderBuilder.java +++ /dev/null @@ -1,80 +0,0 @@ -/* - * Copyright (c) 2011, The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.utils.gcf; - -import org.broadinstitute.sting.utils.variantcontext.Allele; - -import java.util.HashMap; -import java.util.Map; - -/** - * [Short one sentence description of this walker] - *

- *

- * [Functionality of this walker] - *

- *

- *

Input

- *

- * [Input description] - *

- *

- *

Output

- *

- * [Output description] - *

- *

- *

Examples

- *
- *    java
- *      -jar GenomeAnalysisTK.jar
- *      -T $WalkerName
- *  
- * - * @author Your Name - * @since Date created - */ -public class GCFHeaderBuilder { - Map alleles = new HashMap(); - Map strings = new HashMap(); - Map samples = new HashMap(); - - public GCFHeader createHeader() { - return new GCFHeader(alleles, strings, samples); - } - - public int encodeString(final String chr) { return encode(strings, chr); } - public int encodeAllele(final Allele allele) { return encode(alleles, allele); } - public int encodeSample(final String sampleName) { return encode(samples, sampleName); } - - private int encode(Map map, T key) { - Integer v = map.get(key); - if ( v == null ) { - v = map.size(); - map.put(key, v); - } - return v; - } -} diff --git a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFWriter.java b/public/java/src/org/broadinstitute/sting/utils/gcf/GCFWriter.java deleted file mode 100644 index 18fae18c4..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/gcf/GCFWriter.java +++ /dev/null @@ -1,123 +0,0 @@ -/* - * Copyright (c) 2011, The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.utils.gcf; - -import net.sf.samtools.SAMSequenceDictionary; -import org.broadinstitute.sting.utils.codecs.vcf.IndexingVCFWriter; -import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.variantcontext.VariantContext; - -import java.io.*; - -/** - * GCFWriter implementing the VCFWriter interface - * @author Your Name - * @since Date created - */ -public class GCFWriter extends IndexingVCFWriter { - final boolean skipGenotypes; - final FileOutputStream fileOutputStream; - final DataOutputStream dataOutputStream; - final GCFHeaderBuilder gcfHeaderBuilder; - int nbytes = 0; - VCFHeader header = null; - File location; - - // -------------------------------------------------------------------------------- - // - // Constructors - // - // -------------------------------------------------------------------------------- - - public GCFWriter(final File location, final SAMSequenceDictionary refDict, boolean enableOnTheFlyIndexing, boolean doNotWriteGenotypes) { - super(writerName(location, null), location, null, refDict, enableOnTheFlyIndexing); - this.location = location; - this.skipGenotypes = doNotWriteGenotypes; - - // write the output - try { - fileOutputStream = new FileOutputStream(location); - dataOutputStream = createDataOutputStream(fileOutputStream); - gcfHeaderBuilder = new GCFHeaderBuilder(); - } catch ( FileNotFoundException e ) { - throw new UserException.CouldNotCreateOutputFile(location, e); - } - } - - // -------------------------------------------------------------------------------- - // - // VCFWriter interface functions - // - // -------------------------------------------------------------------------------- - - @Override - public void writeHeader(VCFHeader header) { - this.header = header; - try { - nbytes += GCFHeader.writeHeader(dataOutputStream); - } catch ( IOException e ) { - throw new UserException.CouldNotCreateOutputFile(getStreamName(), "Couldn't write header", e); - } - } - - @Override - public void add(VariantContext vc) { - super.add(vc); - GCF gcf = new GCF(gcfHeaderBuilder, vc, skipGenotypes); - try { - nbytes += gcf.write(dataOutputStream); - } catch ( IOException e ) { - throw new UserException.CouldNotCreateOutputFile(getStreamName(), "Failed to add gcf record " + gcf + " to stream " + getStreamName(), e); - } - } - - @Override - public void close() { - // todo -- write out VCF header lines - GCFHeader gcfHeader = gcfHeaderBuilder.createHeader(); - try { - long headerPosition = nbytes; - nbytes += gcfHeader.writeFooter(dataOutputStream); - dataOutputStream.close(); - //System.out.println("Writing forward reference to " + headerPosition); - - RandomAccessFile raFile = new RandomAccessFile(location, "rw"); - raFile.seek(GCFHeader.HEADER_FORWARD_REFERENCE_OFFSET); - raFile.writeLong(headerPosition); - raFile.close(); - } catch ( IOException e ) { - throw new ReviewedStingException("Failed to close GCFWriter " + getStreamName(), e); - } - - super.close(); - } - - private static final DataOutputStream createDataOutputStream(final OutputStream stream) { - return new DataOutputStream(new BufferedOutputStream(stream, GCF.BUFFER_SIZE)); - } - -} diff --git a/public/java/src/org/broadinstitute/sting/utils/help/ForumAPIUtils.java b/public/java/src/org/broadinstitute/sting/utils/help/ForumAPIUtils.java new file mode 100644 index 000000000..388e7ce45 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/help/ForumAPIUtils.java @@ -0,0 +1,173 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.help; + +import com.google.gson.Gson; +import org.apache.commons.io.IOUtils; +import org.apache.http.HttpResponse; +import org.apache.http.client.ClientProtocolException; +import org.apache.http.client.methods.HttpGet; +import org.apache.http.client.methods.HttpPost; +import org.apache.http.entity.StringEntity; +import org.apache.http.impl.client.DefaultHttpClient; + +import java.io.BufferedReader; +import java.io.IOException; +import java.io.InputStreamReader; +import java.net.MalformedURLException; +import java.util.ArrayList; +import java.util.List; + +public class ForumAPIUtils { + /** + * How we post to the forum + */ + private final static String API_URL = "https://gatk.vanillaforums.com/"; + final private static String ACCESS_TOKEN = "access_token="; + + public static List getPostedTools(String forumKey) { + Gson gson = new Gson(); + List output = new ArrayList(); + + String text = httpGet(API_URL + "categories.json?CategoryIdentifier=tool-bulletin&page=1-100000&" + ACCESS_TOKEN + forumKey); + + APIQuery details = gson.fromJson(text, APIQuery.class); + ForumDiscussion[] discussions = details.Discussions; + + for (ForumDiscussion post : discussions) { + output.add(post.Name); + } + + /* + System.out.println(details.isJsonArray()); + System.out.println(details.isJsonNull()); + System.out.println(details.isJsonObject()); + System.out.println(details.isJsonPrimitive()); + + JsonArray posted = details.getAsJsonPrimitive().get("Discussions").getAsJsonArray(); + + for ( JsonElement post : posted ) { + output.add( post.getAsJsonObject().get("Name").getAsString()); + } + */ + return output; + } + + + private static String httpGet(String urlStr) { + String output = ""; + + try { + + DefaultHttpClient httpClient = new DefaultHttpClient(); + HttpGet getRequest = new HttpGet(urlStr); + getRequest.addHeader("accept", "application/json"); + + HttpResponse response = httpClient.execute(getRequest); + + if (response.getStatusLine().getStatusCode() != 200) { + throw new RuntimeException("Failed : HTTP error code : " + + response.getStatusLine().getStatusCode()); + } + + output = IOUtils.toString(response.getEntity().getContent()); + + httpClient.getConnectionManager().shutdown(); + + } catch (ClientProtocolException e) { + + e.printStackTrace(); + + } catch (IOException e) { + + e.printStackTrace(); + } + return output; + } + + private static String httpPost(String data, String URL) { + try { + + DefaultHttpClient httpClient = new DefaultHttpClient(); + HttpPost postRequest = new HttpPost(URL); + + StringEntity input = new StringEntity(data); + input.setContentType("application/json"); + postRequest.setEntity(input); + + HttpResponse response = httpClient.execute(postRequest); + + if (response.getStatusLine().getStatusCode() != 200) { + throw new RuntimeException("Failed : HTTP error code : " + + response.getStatusLine().getStatusCode()); + } + + BufferedReader br = new BufferedReader( + new InputStreamReader((response.getEntity().getContent()))); + + String output = ""; + String line; + System.out.println("Output from Server .... \n"); + while ((line = br.readLine()) != null) { + output += (line + '\n'); + System.out.println(line); + } + + httpClient.getConnectionManager().shutdown(); + return output; + + } catch (MalformedURLException e) { + + e.printStackTrace(); + + } catch (IOException e) { + + e.printStackTrace(); + + } + return null; + } + + public static void postToForum(GATKDocWorkUnit tool, final String forumKey) { + + + ForumDiscussion post = new ForumDiscussion(tool); + + Gson gson = new Gson(); + + String data = gson.toJson(post.getPostData()); + httpPost(data, API_URL + "post/discussion.json?" + ACCESS_TOKEN + forumKey); + + + } + + class APIQuery { + ForumDiscussion[] Discussions; + + public APIQuery() { + } + } + +} diff --git a/public/java/src/org/broadinstitute/sting/utils/help/ForumDiscussion.java b/public/java/src/org/broadinstitute/sting/utils/help/ForumDiscussion.java new file mode 100644 index 000000000..ac5d73946 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/help/ForumDiscussion.java @@ -0,0 +1,83 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.help; + +import java.util.HashMap; +import java.util.Map; + +class ForumDiscussion { + + final private static String POST_TEMPLATE = "

A new tool has been released!

Check out the documentation at %s.

"; + + final int Announce; + final String Body; + final String Category; + final int Closed; + final String Format; + final String Name; + final int Sink; + final String Tags; + final String Type; + + public ForumDiscussion(String name, String body, String format, String category, + String tagsCSV, String type, int closed, int announce, int sink) { + this.Name = name; + this.Body = body; + this.Format = format; + this.Category = category; + this.Tags = tagsCSV; + this.Type = type; + this.Closed = closed; + this.Announce = announce; + this.Sink = sink; + } + + public ForumDiscussion(GATKDocWorkUnit tool) { + this(tool.name, + String.format(POST_TEMPLATE, GATKDocUtils.URL_ROOT_FOR_RELEASE_GATKDOCS + tool.filename, tool.name), + "Html", "tool-bulletin", tool.name + "," + tool.group + ",gatkdocs", "Discussion", 0, -1, -1); + } + + public Map getPostData() { + Map output = new HashMap(); + + output.put("Name", Name); + output.put("Body", Body); + output.put("Format", Format); + output.put("Category", Category); + if (Tags != null) + output.put("Tags", Tags); + if (Type != null) + output.put("Type", Type); + if (Closed != -1) + output.put("Closed", Closed == 1 ? "1" : "0"); + if (Announce != -1) + output.put("Announce", Announce == 1 ? "1" : "0"); + if (Sink != -1) + output.put("Sink", Sink == 1 ? "1" : "0"); + + return output; + } +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/help/GATKDocUtils.java b/public/java/src/org/broadinstitute/sting/utils/help/GATKDocUtils.java index cd645943b..4ec2ac6d7 100644 --- a/public/java/src/org/broadinstitute/sting/utils/help/GATKDocUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/help/GATKDocUtils.java @@ -1,5 +1,5 @@ /* - * Copyright (c) 2011, The Broad Institute + * Copyright (c) 2012, The Broad Institute * * Permission is hereby granted, free of charge, to any person * obtaining a copy of this software and associated documentation @@ -25,11 +25,17 @@ package org.broadinstitute.sting.utils.help; public class GATKDocUtils { - /** The URL root for RELEASED GATKDOC units */ - public final static String URL_ROOT_FOR_RELEASE_GATKDOCS = "http://www.broadinstitute.org/gsa/gatkdocs/release/"; - /** The URL root for STABLE GATKDOC units */ + /** + * The URL root for RELEASED GATKDOC units + */ + public final static String URL_ROOT_FOR_RELEASE_GATKDOCS = "http://www.broadinstitute.org/gatk/gatkdocs/"; + /** + * The URL root for STABLE GATKDOC units + */ public final static String URL_ROOT_FOR_STABLE_GATKDOCS = "http://iwww.broadinstitute.org/gsa/gatkdocs/stable/"; - /** The URL root for UNSTABLE GATKDOC units */ + /** + * The URL root for UNSTABLE GATKDOC units + */ public final static String URL_ROOT_FOR_UNSTABLE_GATKDOCS = "http://iwww.broadinstitute.org/gsa/gatkdocs/unstable/"; /** @@ -49,6 +55,7 @@ public class GATKDocUtils { /** * Returns a full URL http://etc/ linking to the documentation for class (assuming it * exists). Currently points to the RELEASE doc path only. + * * @param c * @return */ diff --git a/public/java/src/org/broadinstitute/sting/utils/help/GATKDocWorkUnit.java b/public/java/src/org/broadinstitute/sting/utils/help/GATKDocWorkUnit.java index 41c855329..0ff5ddc6a 100644 --- a/public/java/src/org/broadinstitute/sting/utils/help/GATKDocWorkUnit.java +++ b/public/java/src/org/broadinstitute/sting/utils/help/GATKDocWorkUnit.java @@ -1,5 +1,5 @@ /* - * Copyright (c) 2011, The Broad Institute + * Copyright (c) 2012, The Broad Institute * * Permission is hereby granted, free of charge, to any person * obtaining a copy of this software and associated documentation @@ -25,41 +25,63 @@ package org.broadinstitute.sting.utils.help; import com.sun.javadoc.ClassDoc; +import org.broadinstitute.sting.gatk.Category; import java.util.HashMap; +import java.util.List; import java.util.Map; /** * Simple collection of all relevant information about something the GATKDoclet can document - * + *

* Created by IntelliJ IDEA. * User: depristo * Date: 7/24/11 * Time: 7:59 PM */ class GATKDocWorkUnit implements Comparable { - /** The class that's being documented */ + /** + * The class that's being documented + */ final Class clazz; - /** The name of the thing we are documenting */ + /** + * The name of the thing we are documenting + */ final String name; - /** the filename where we will be writing the docs for this class */ + /** + * the filename where we will be writing the docs for this class + */ final String filename; - /** The name of the documentation group (e.g., walkers, read filters) class belongs to */ + /** + * The name of the documentation group (e.g., walkers, read filters) class belongs to + */ final String group; - /** The documentation handler for this class */ + /** + * The categories that this class belongs to + */ + final List categories; + /** + * The documentation handler for this class + */ final DocumentedGATKFeatureHandler handler; - /** The javadoc documentation for clazz */ + /** + * The javadoc documentation for clazz + */ final ClassDoc classDoc; - /** The annotation that lead to this Class being in GATKDoc */ + /** + * The annotation that lead to this Class being in GATKDoc + */ final DocumentedGATKFeatureObject annotation; - /** When was this walker built, and what's the absolute version number */ + /** + * When was this walker built, and what's the absolute version number + */ final String buildTimestamp, absoluteVersion; // set by the handler String summary; Map forTemplate; - public GATKDocWorkUnit(String name, String filename, String group, + public GATKDocWorkUnit(String name, String filename, String group, List categories, DocumentedGATKFeatureObject annotation, DocumentedGATKFeatureHandler handler, ClassDoc classDoc, Class clazz, String buildTimestamp, String absoluteVersion) { @@ -67,6 +89,7 @@ class GATKDocWorkUnit implements Comparable { this.name = name; this.filename = filename; this.group = group; + this.categories = categories; this.handler = handler; this.classDoc = classDoc; this.clazz = clazz; @@ -76,6 +99,7 @@ class GATKDocWorkUnit implements Comparable { /** * Called by the GATKDoclet to set handler provided context for this work unit + * * @param summary * @param forTemplate */ @@ -86,6 +110,7 @@ class GATKDocWorkUnit implements Comparable { /** * Return a String -> String map suitable for FreeMarker to create an index to this WorkUnit + * * @return */ public Map indexDataMap() { @@ -99,6 +124,7 @@ class GATKDocWorkUnit implements Comparable { /** * Sort in order of the name of this WorkUnit + * * @param other * @return */ diff --git a/public/java/src/org/broadinstitute/sting/utils/help/GATKDoclet.java b/public/java/src/org/broadinstitute/sting/utils/help/GATKDoclet.java index 7f26f22f5..d4dd47a3a 100644 --- a/public/java/src/org/broadinstitute/sting/utils/help/GATKDoclet.java +++ b/public/java/src/org/broadinstitute/sting/utils/help/GATKDoclet.java @@ -1,5 +1,5 @@ /* - * Copyright (c) 2011, The Broad Institute + * Copyright (c) 2012, The Broad Institute * * Permission is hereby granted, free of charge, to any person * obtaining a copy of this software and associated documentation @@ -24,6 +24,7 @@ package org.broadinstitute.sting.utils.help; +import com.google.gson.Gson; import com.sun.javadoc.ClassDoc; import com.sun.javadoc.RootDoc; import freemarker.template.Configuration; @@ -34,12 +35,16 @@ import org.apache.commons.io.FileUtils; import org.apache.log4j.Level; import org.apache.log4j.Logger; import org.broad.tribble.FeatureCodec; +import org.broadinstitute.sting.gatk.Categorize; +import org.broadinstitute.sting.gatk.Category; import org.broadinstitute.sting.gatk.CommandLineGATK; import org.broadinstitute.sting.gatk.walkers.qc.DocumentationTest; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.text.XReadLines; import java.io.*; +import java.lang.annotation.Annotation; import java.util.*; /** @@ -50,13 +55,13 @@ import java.util.*; * This document has the following workflow: * * 1 -- walk the javadoc heirarchy, looking for class that have the - * DocumentedGATKFeature annotation or are in the type heirarchy in the - * static list of things to document, and are to be documented + * DocumentedGATKFeature annotation or are in the type heirarchy in the + * static list of things to document, and are to be documented * 2 -- construct for each a GATKDocWorkUnit, resulting in the complete - * set of things to document + * set of things to document * 3 -- for each unit, actually generate an html page documenting it - * as well as links to related features via their units. Writing - * of a specific class HTML is accomplished by a generate DocumentationHandler + * as well as links to related features via their units. Writing + * of a specific class HTML is accomplished by a generate DocumentationHandler * 4 -- write out an index of all units, organized by group * * The documented classes are restricted to only those with @DocumentedGATKFeature @@ -65,12 +70,17 @@ import java.util.*; public class GATKDoclet { final protected static Logger logger = Logger.getLogger(GATKDoclet.class); - /** Where we find the help FreeMarker templates */ + /** + * Where we find the help FreeMarker templates + */ final protected static File SETTINGS_DIR = new File("settings/helpTemplates"); - /** Where we write the GATKDoc html directory */ + /** + * Where we write the GATKDoc html directory + */ final protected static File DESTINATION_DIR = new File("gatkdocs"); + final private static String FORUM_KEY_FILE = "/local/gsa-engineering/gatkdocs_publisher/forum.key"; // ---------------------------------------------------------------------- // // Global variables that are set on the command line by javadoc @@ -88,10 +98,14 @@ public class GATKDoclet { private static final List> testOnlyKeepers = Arrays.asList( DocumentationTest.class, CommandLineGATK.class, UserException.class); - /** The javadoc root doc */ + /** + * The javadoc root doc + */ RootDoc rootDoc; - /** The set of all things we are going to document */ + /** + * The set of all things we are going to document + */ Set myWorkUnits; /** @@ -103,6 +117,7 @@ public class GATKDoclet { * codecs). */ final static Collection STATIC_DOCS = new ArrayList(); + static { STATIC_DOCS.add(new DocumentedGATKFeatureObject(FeatureCodec.class, "Reference ordered data (ROD) codecs", @@ -112,6 +127,7 @@ public class GATKDoclet { /** * Extracts the contents of certain types of javadoc and adds them to an XML file. + * * @param rootDoc The documentation root. * @return Whether the JavaDoc run succeeded. * @throws java.io.IOException if output can't be written. @@ -120,12 +136,12 @@ public class GATKDoclet { logger.setLevel(Level.INFO); // load arguments - for(String[] options: rootDoc.options()) { - if(options[0].equals("-build-timestamp")) + for (String[] options : rootDoc.options()) { + if (options[0].equals("-build-timestamp")) buildTimestamp = options[1]; if (options[0].equals("-absolute-version")) absoluteVersion = options[1]; - if (options[0].equals("-include-hidden")) + if (options[0].equals("-include -hidden")) showHiddenFeatures = true; if (options[0].equals("-test")) testOnly = true; @@ -134,20 +150,22 @@ public class GATKDoclet { // process the docs new GATKDoclet().processDocs(rootDoc); + return true; } /** * Validate the given options against options supported by this doclet. + * * @param option Option to validate. * @return Number of potential parameters; 0 if not supported. */ public static int optionLength(String option) { - if(option.equals("-build-timestamp") || + if (option.equals("-build-timestamp") || option.equals("-absolute-version") || option.equals("-include-hidden")) { return 2; - } else if ( option.equals("-test") ) + } else if (option.equals("-test")) return 1; else return 0; @@ -155,6 +173,7 @@ public class GATKDoclet { /** * Are we supposed to include @Hidden annotations in our documented output? + * * @return */ public boolean showHiddenFeatures() { @@ -162,7 +181,6 @@ public class GATKDoclet { } /** - * * @param rootDoc */ private void processDocs(RootDoc rootDoc) { @@ -172,7 +190,11 @@ public class GATKDoclet { try { // basic setup DESTINATION_DIR.mkdirs(); - FileUtils.copyFile(new File(SETTINGS_DIR + "/style.css"), new File(DESTINATION_DIR + "/style.css")); + FileUtils.copyFile(new File(SETTINGS_DIR + "/bootstrap.min.css"), new File(DESTINATION_DIR + "/bootstrap.min.css")); + FileUtils.copyFile(new File(SETTINGS_DIR + "/bootstrap.min.js"), new File(DESTINATION_DIR + "/bootstrap.min.js")); + FileUtils.copyFile(new File(SETTINGS_DIR + "/jquery.min.js"), new File(DESTINATION_DIR + "/jquery.min.js")); + // print the Version number + FileUtils.writeByteArrayToFile(new File(DESTINATION_DIR + "/current.version.txt"), getSimpleVersion(absoluteVersion).getBytes()); /* ------------------------------------------------------------------- */ /* You should do this ONLY ONCE in the whole application life-cycle: */ @@ -184,31 +206,108 @@ public class GATKDoclet { cfg.setObjectWrapper(new DefaultObjectWrapper()); myWorkUnits = computeWorkUnits(); - for ( GATKDocWorkUnit workUnit : myWorkUnits ) { - processDocWorkUnit(cfg, workUnit); + + Map>> catNav = getCategories(new ArrayList(myWorkUnits)); + + processCategories(catNav, myWorkUnits); + + for (GATKDocWorkUnit workUnit : myWorkUnits) { + processDocWorkUnit(cfg, workUnit, catNav); } processIndex(cfg, new ArrayList(myWorkUnits)); - } catch ( FileNotFoundException e ) { + + File forumKeyFile = new File(FORUM_KEY_FILE); + if (forumKeyFile.exists()) { + String forumKey = null; + // Read ing a one-line file so we can do a for loop + for (String line : new XReadLines(forumKeyFile)) + forumKey = line; + updateForum(myWorkUnits, forumKey); + } + } catch (FileNotFoundException e) { throw new RuntimeException(e); - } catch ( IOException e ) { + } catch (IOException e) { throw new RuntimeException(e); } } + private void updateForum(Set docWorkUnits, String forumKey) { + //first get list of posts that need to be added + List old = ForumAPIUtils.getPostedTools(forumKey); + + for (String s : old) + System.out.println(s); + + System.out.printf("Forum has %d items%n", old.size()); + System.out.printf("Docs have %d items%n", docWorkUnits.size()); + + List toAdd = new ArrayList(); + for (GATKDocWorkUnit tool : docWorkUnits) { + if (!old.contains(tool.name)) { + System.out.println("WILL POST: " + tool.name + " TO FORUM"); + toAdd.add(tool); + } + } + + //update using list + for (GATKDocWorkUnit tool : toAdd) { + //if ( tool.name.equals("ApplyRecalibration") ) + ForumAPIUtils.postToForum(tool, forumKey); + } + } + + private void processCategories(Map>> getCategories, Set classes) throws IOException { + List categories = new LinkedList(); + for (Category cat : getCategories.keySet()) { + Map properties = new HashMap(); + properties.put("Name", cat.getDescription()); + properties.put("UrlSlug", cat.name().toLowerCase().replace('_', '-')); + categories.add(properties); + } + writeJson(DESTINATION_DIR + "/categories.json", categories); + + List posts = new LinkedList(); + for (GATKDocWorkUnit unit : classes) { + Map properties = new HashMap(); + properties.put("Post Title", unit.name + " Documentation"); + properties.put("Categories", unit.categories); + List tags = new ArrayList(); + tags.add(unit.name); + tags.add(unit.group); + properties.put("Tags", tags); + String body = String.format("%s

%s

", + GATKDocUtils.URL_ROOT_FOR_RELEASE_GATKDOCS + unit.filename, unit.name + " Documentation", unit.summary); + properties.put("Body", body); + posts.add(properties); + } + + } + + private void writeJson(String filename, Object source) throws IOException { + Gson gson = new Gson(); + BufferedWriter out = new BufferedWriter(new OutputStreamWriter(new FileOutputStream(new File(filename))), 1024 * 1024); + + out.write(gson.toJson(source)); + + out.close(); + + } + /** * Returns the set of all GATKDocWorkUnits that we are going to generate docs for. + * * @return */ private Set computeWorkUnits() { TreeSet m = new TreeSet(); - for ( ClassDoc doc : rootDoc.classes() ) { + for (ClassDoc doc : rootDoc.classes()) { //logger.debug("Considering " + doc); Class clazz = getClassForClassDoc(doc); // don't add anything that's not DocumentationTest if we are in test mode - if ( clazz != null && testOnly && ! testOnlyKeepers.contains(clazz) ) + if (clazz != null && testOnly && !testOnlyKeepers.contains(clazz)) continue; //if ( clazz != null && clazz.getName().equals("org.broadinstitute.sting.gatk.walkers.annotator.AlleleBalance")) @@ -216,11 +315,12 @@ public class GATKDoclet { DocumentedGATKFeatureObject feature = getFeatureForClassDoc(doc); DocumentedGATKFeatureHandler handler = createHandler(doc, feature); - if ( handler != null && handler.includeInDocs(doc) ) { + if (handler != null && handler.includeInDocs(doc)) { logger.info("Generating documentation for class " + doc); String filename = handler.getDestinationFilename(doc, clazz); + Category[] categories = getClassAnnotationValue(clazz, Categorize.class, "value"); GATKDocWorkUnit unit = new GATKDocWorkUnit(doc.name(), - filename, feature.groupName(), + filename, feature.groupName(), (categories == null) ? new ArrayList() : Arrays.asList(categories), feature, handler, doc, clazz, buildTimestamp, absoluteVersion); m.add(unit); @@ -233,13 +333,14 @@ public class GATKDoclet { /** * Create a handler capable of documenting the class doc according to feature. Returns * null if no appropriate handler is found or doc shouldn't be documented at all. + * * @param doc * @param feature * @return */ private DocumentedGATKFeatureHandler createHandler(ClassDoc doc, DocumentedGATKFeatureObject feature) { - if ( feature != null ) { - if ( feature.enable() ) { + if (feature != null) { + if (feature.enable()) { DocumentedGATKFeatureHandler handler = new GenericDocumentationHandler(); handler.setDoclet(this); return handler; @@ -261,15 +362,15 @@ public class GATKDoclet { private DocumentedGATKFeatureObject getFeatureForClassDoc(ClassDoc doc) { Class docClass = getClassForClassDoc(doc); - if ( docClass == null ) + if (docClass == null) return null; // not annotated so it shouldn't be documented - if ( docClass.isAnnotationPresent(DocumentedGATKFeature.class) ) { + if (docClass.isAnnotationPresent(DocumentedGATKFeature.class)) { DocumentedGATKFeature f = docClass.getAnnotation(DocumentedGATKFeature.class); return new DocumentedGATKFeatureObject(docClass, f.enable(), f.groupName(), f.summary(), f.extraDocs()); } else { - for ( DocumentedGATKFeatureObject staticDocs : STATIC_DOCS ) { - if ( staticDocs.getClassToDoc().isAssignableFrom(docClass) ) { + for (DocumentedGATKFeatureObject staticDocs : STATIC_DOCS) { + if (staticDocs.getClassToDoc().isAssignableFrom(docClass)) { return new DocumentedGATKFeatureObject(docClass, staticDocs.enable(), staticDocs.groupName(), staticDocs.summary(), staticDocs.extraDocs()); } } @@ -279,26 +380,28 @@ public class GATKDoclet { /** * Return the Java class described by the ClassDoc doc + * * @param doc * @return */ private Class getClassForClassDoc(ClassDoc doc) { try { // todo -- what do I need the ? extends Object to pass the compiler? - return (Class)HelpUtils.getClassForDoc(doc); - } catch ( ClassNotFoundException e) { + return (Class) HelpUtils.getClassForDoc(doc); + } catch (ClassNotFoundException e) { //logger.warn("Couldn't find class for ClassDoc " + doc); // we got a classdoc for a class we can't find. Maybe in a library or something return null; - } catch ( NoClassDefFoundError e ) { + } catch (NoClassDefFoundError e) { return null; - } catch ( UnsatisfiedLinkError e) { + } catch (UnsatisfiedLinkError e) { return null; // naughty BWA bindings } } /** * Create the html index listing all of the GATKDocs features + * * @param cfg * @param indexData * @throws IOException @@ -312,7 +415,7 @@ public class GATKDoclet { try { temp.process(groupIndexData(indexData), out); out.flush(); - } catch ( TemplateException e ) { + } catch (TemplateException e) { throw new ReviewedStingException("Failed to create GATK documentation", e); } } @@ -320,6 +423,7 @@ public class GATKDoclet { /** * Helpful function to create the html index. Given all of the already run GATKDocWorkUnits, * create the high-level grouping data listing individual features by group. + * * @param indexData * @return */ @@ -334,9 +438,9 @@ public class GATKDoclet { List> groups = new ArrayList>(); Set seenDocumentationFeatures = new HashSet(); List> data = new ArrayList>(); - for ( GATKDocWorkUnit workUnit : indexData ) { + for (GATKDocWorkUnit workUnit : indexData) { data.add(workUnit.indexDataMap()); - if ( ! seenDocumentationFeatures.contains(workUnit.annotation.groupName()) ) { + if (!seenDocumentationFeatures.contains(workUnit.annotation.groupName())) { groups.add(toMap(workUnit.annotation)); seenDocumentationFeatures.add(workUnit.annotation.groupName()); } @@ -347,16 +451,20 @@ public class GATKDoclet { root.put("timestamp", buildTimestamp); root.put("version", absoluteVersion); + root.put("categories", getCategories(indexData)); + return root; } /** * Trivial helper routine that returns the map of name and summary given the annotation + * * @param annotation * @return */ private static final Map toMap(DocumentedGATKFeatureObject annotation) { Map root = new HashMap(); + root.put("id", annotation.groupName().replaceAll("\\W", "")); root.put("name", annotation.groupName()); root.put("summary", annotation.summary()); return root; @@ -364,18 +472,20 @@ public class GATKDoclet { /** * Helper function that finding the GATKDocWorkUnit associated with class from among all of the work units + * * @param c the class we are looking for * @return the GATKDocWorkUnit whose .clazz.equals(c), or null if none could be found */ public final GATKDocWorkUnit findWorkUnitForClass(Class c) { - for ( final GATKDocWorkUnit unit : this.myWorkUnits ) - if ( unit.clazz.equals(c) ) + for (final GATKDocWorkUnit unit : this.myWorkUnits) + if (unit.clazz.equals(c)) return unit; return null; } /** * Return the ClassDoc associated with clazz + * * @param clazz * @return */ @@ -390,12 +500,12 @@ public class GATKDoclet { * @param unit * @throws IOException */ - private void processDocWorkUnit(Configuration cfg, GATKDocWorkUnit unit) + private void processDocWorkUnit(Configuration cfg, GATKDocWorkUnit unit, Map>> categories) throws IOException { //System.out.printf("Processing documentation for class %s%n", unit.classDoc); unit.handler.processOne(unit); - + unit.forTemplate.put("catNav", categories); // Get or create a template Template temp = cfg.getTemplate(unit.handler.getTemplateName(unit.classDoc)); @@ -405,8 +515,59 @@ public class GATKDoclet { Writer out = new OutputStreamWriter(new FileOutputStream(outputPath)); temp.process(unit.forTemplate, out); out.flush(); - } catch ( TemplateException e ) { + } catch (TemplateException e) { throw new ReviewedStingException("Failed to create GATK documentation", e); } } + + // hack - todo - is there a better way to process annotations? + private Category[] getClassAnnotationValue(Class classType, Class annotationType, String attributeName) { + Category[] value = null; + + Annotation annotation = classType.getAnnotation(annotationType); + if (annotation != null) { + try { + value = (Category[]) annotation.annotationType().getMethod(attributeName).invoke(annotation); + } catch (Exception ex) { + } + } + + return value; + } + + private Map>> getCategories(List classes) { + Map>> output = new TreeMap>>(); + + for (Category cat : Category.values()) { + output.put(cat, new ArrayList>()); + } + + for (GATKDocWorkUnit unit : classes) { + Category[] categories = getClassAnnotationValue(unit.clazz, Categorize.class, "value"); + + if (categories != null) { + for (Category cat : categories) { + unit.handler.processOne(unit); + + Map datum = unit.indexDataMap(); + + output.get(cat).add(datum); + } + } + } + + return output; + } + + private static String getSimpleVersion(String absoluteVersion) { + String[] parts = absoluteVersion.split("-"); + + // by skipping i=0, there is no trailing separator + for (int i = 1; i < 2; i++) { + parts[0] = parts[0].concat("-"); + parts[0] = parts[0].concat(parts[i]); + } + + return parts[0]; + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/help/GenericDocumentationHandler.java b/public/java/src/org/broadinstitute/sting/utils/help/GenericDocumentationHandler.java index 20f9eccd3..71c82053f 100644 --- a/public/java/src/org/broadinstitute/sting/utils/help/GenericDocumentationHandler.java +++ b/public/java/src/org/broadinstitute/sting/utils/help/GenericDocumentationHandler.java @@ -1,5 +1,5 @@ /* - * Copyright (c) 2011, The Broad Institute + * Copyright (c) 2012, The Broad Institute * * Permission is hereby granted, free of charge, to any person * obtaining a copy of this software and associated documentation @@ -28,14 +28,11 @@ import com.google.java.contract.Ensures; import com.google.java.contract.Requires; import com.sun.javadoc.ClassDoc; import com.sun.javadoc.FieldDoc; -import com.sun.javadoc.RootDoc; import com.sun.javadoc.Tag; import org.apache.log4j.Logger; import org.broad.tribble.Feature; -import org.broad.tribble.bed.FullBEDFeature; import org.broadinstitute.sting.commandline.*; import org.broadinstitute.sting.gatk.CommandLineGATK; -import org.broadinstitute.sting.gatk.arguments.DbsnpArgumentCollection; import org.broadinstitute.sting.gatk.refdata.tracks.FeatureManager; import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.classloader.JVMUtils; @@ -43,7 +40,7 @@ import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.StingException; -import java.io.*; +import java.io.IOException; import java.lang.reflect.*; import java.util.*; @@ -59,16 +56,18 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { */ private static final int MAX_DISPLAY_NAME = 30; - /** The Class we are documenting */ + /** + * The Class we are documenting + */ private GATKDocWorkUnit toProcess; @Override public boolean includeInDocs(ClassDoc doc) { try { Class type = HelpUtils.getClassForDoc(doc); - boolean hidden = ! getDoclet().showHiddenFeatures() && type.isAnnotationPresent(Hidden.class); - return ! hidden && JVMUtils.isConcrete(type); - } catch ( ClassNotFoundException e ) { + boolean hidden = !getDoclet().showHiddenFeatures() && type.isAnnotationPresent(Hidden.class); + return !hidden && JVMUtils.isConcrete(type); + } catch (ClassNotFoundException e) { return false; } } @@ -90,7 +89,7 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { addArgumentBindings(root); addRelatedBindings(root); - toProcess.setHandlerContent((String)root.get("summary"), root); + toProcess.setHandlerContent((String) root.get("summary"), root); } /** @@ -104,34 +103,37 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { // Extract overrides from the doc tags. StringBuilder summaryBuilder = new StringBuilder(); - for(Tag tag: toProcess.classDoc.firstSentenceTags()) + for (Tag tag : toProcess.classDoc.firstSentenceTags()) summaryBuilder.append(tag.text()); root.put("summary", summaryBuilder.toString()); root.put("description", toProcess.classDoc.commentText().substring(summaryBuilder.toString().length())); root.put("timestamp", toProcess.buildTimestamp); root.put("version", toProcess.absoluteVersion); + root.put("categories", toProcess.categories); - for(Tag tag: toProcess.classDoc.tags()) { + for (Tag tag : toProcess.classDoc.tags()) { root.put(tag.name(), tag.text()); } } /** * Add bindings describing related GATK capabilites to toProcess + * * @param root */ protected void addRelatedBindings(Map root) { List> extraDocsData = new ArrayList>(); // add in all of the explicitly related items - for ( final Class extraDocClass : toProcess.annotation.extraDocs() ) { + for (final Class extraDocClass : toProcess.annotation.extraDocs()) { final GATKDocWorkUnit otherUnit = getDoclet().findWorkUnitForClass(extraDocClass); - if ( otherUnit == null ) + if (otherUnit == null) throw new ReviewedStingException("Requested extraDocs for class without any documentation: " + extraDocClass); extraDocsData.add( - new HashMap(){{ + new HashMap() {{ put("filename", otherUnit.filename); - put("name", otherUnit.name);}}); + put("name", otherUnit.name); + }}); } root.put("extradocs", extraDocsData); @@ -149,16 +151,16 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { root.put("arguments", args); try { // loop over all of the arguments according to the parsing engine - for ( final ArgumentSource argumentSource : parsingEngine.extractArgumentSources(HelpUtils.getClassForDoc(toProcess.classDoc)) ) { + for (final ArgumentSource argumentSource : parsingEngine.extractArgumentSources(HelpUtils.getClassForDoc(toProcess.classDoc))) { // todo -- why can you have multiple ones? ArgumentDefinition argDef = argumentSource.createArgumentDefinitions().get(0); FieldDoc fieldDoc = getFieldDoc(toProcess.classDoc, argumentSource.field.getName()); Map argBindings = docForArgument(fieldDoc, argumentSource, argDef); - if ( ! argumentSource.isHidden() || getDoclet().showHiddenFeatures() ) { + if (!argumentSource.isHidden() || getDoclet().showHiddenFeatures()) { final String kind = docKindOfArg(argumentSource); final Object value = argumentValue(toProcess.clazz, argumentSource); - if ( value != null ) + if (value != null) argBindings.put("defaultValue", prettyPrintValueString(value)); args.get(kind).add(argBindings); @@ -167,31 +169,33 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { } // sort the arguments - for (Map.Entry>> entry : args.entrySet()) { + for (Map.Entry>> entry : args.entrySet()) { entry.setValue(sortArguments(entry.getValue())); } - } catch ( ClassNotFoundException e ) { + } catch (ClassNotFoundException e) { throw new RuntimeException(e); } } /** * Return the argument kind (required, advanced, hidden, etc) of this argumentSource + * * @param argumentSource * @return */ @Requires("argumentSource != null") @Ensures("result != null") private String docKindOfArg(ArgumentSource argumentSource) { - if ( argumentSource.isRequired() ) return "required"; - else if ( argumentSource.isAdvanced() ) return "advanced"; - else if ( argumentSource.isHidden() ) return "hidden"; - else if ( argumentSource.isDeprecated() ) return "depreciated"; + if (argumentSource.isRequired()) return "required"; + else if (argumentSource.isAdvanced()) return "advanced"; + else if (argumentSource.isHidden()) return "hidden"; + else if (argumentSource.isDeprecated()) return "depreciated"; else return "optional"; } /** * Attempts to determine the value of argumentSource in an instantiated version of c + * * @param c * @param argumentSource * @return value of argumentSource, or null if this isn't possible @@ -201,12 +205,12 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { // get the value of the field // attempt to instantiate the class final Object instance = makeInstanceIfPossible(toProcess.clazz); - if ( instance != null ) { + if (instance != null) { final Object value = getFieldValue(instance, argumentSource.field.getName()); - if ( value != null ) + if (value != null) return value; - if ( argumentSource.createsTypeDefault() ) { + if (argumentSource.createsTypeDefault()) { try { // handle the case where there's an implicit default return argumentSource.typeDefaultDocString(); } catch (ReviewedStingException e) { @@ -220,6 +224,7 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { /** * Create the argument map for holding class arguments + * * @return */ private Map>> createArgumentMap() { @@ -236,6 +241,7 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { /** * Sorts the individual argument list in unsorted according to CompareArgumentsByName + * * @param unsorted * @return */ @@ -254,9 +260,9 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { private String elt(Map m) { String v = m.get("name").toString().toLowerCase(); - if ( v.startsWith("--") ) + if (v.startsWith("--")) return v.substring(2); - else if ( v.startsWith("-") ) + else if (v.startsWith("-")) return v.substring(1); else throw new RuntimeException("Expect to see arguments beginning with at least one -, but found " + v); @@ -267,7 +273,7 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { * Utility function that finds the value of fieldName in any fields of ArgumentCollection fields in * instance of class c. * - * @param instance the object to query for the field value + * @param instance the object to query for the field value * @param fieldName the name of the field we are looking for in instance * @return The value assigned to field in the ArgumentCollection, otherwise null */ @@ -280,14 +286,14 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { // @ArgumentCollection // protected DbsnpArgumentCollection dbsnp = new DbsnpArgumentCollection(); // - for ( Field field : JVMUtils.getAllFields(instance.getClass()) ) { - if ( field.isAnnotationPresent(ArgumentCollection.class) ) { + for (Field field : JVMUtils.getAllFields(instance.getClass())) { + if (field.isAnnotationPresent(ArgumentCollection.class)) { //System.out.printf("Searching for %s in argument collection field %s%n", fieldName, field); Object fieldValue = JVMUtils.getFieldValue(field, instance); Object value = getFieldValue(fieldValue, fieldName); - if ( value != null ) + if (value != null) return value; - } else if ( field.getName().equals(fieldName) ) { + } else if (field.getName().equals(fieldName)) { return JVMUtils.getFieldValue(field, instance); } } @@ -297,38 +303,39 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { /** * Pretty prints value - * + *

* Assumes value != null + * * @param value * @return */ private Object prettyPrintValueString(Object value) { - if ( value.getClass().isArray() ) { + if (value.getClass().isArray()) { Class type = value.getClass().getComponentType(); - if ( boolean.class.isAssignableFrom(type) ) - return Arrays.toString((boolean[])value); - if ( byte.class.isAssignableFrom(type) ) - return Arrays.toString((byte[])value); - if ( char.class.isAssignableFrom(type) ) - return Arrays.toString((char[])value); - if ( double.class.isAssignableFrom(type) ) - return Arrays.toString((double[])value); - if ( float.class.isAssignableFrom(type) ) - return Arrays.toString((float[])value); - if ( int.class.isAssignableFrom(type) ) - return Arrays.toString((int[])value); - if ( long.class.isAssignableFrom(type) ) - return Arrays.toString((long[])value); - if ( short.class.isAssignableFrom(type) ) - return Arrays.toString((short[])value); - if ( Object.class.isAssignableFrom(type) ) - return Arrays.toString((Object[])value); + if (boolean.class.isAssignableFrom(type)) + return Arrays.toString((boolean[]) value); + if (byte.class.isAssignableFrom(type)) + return Arrays.toString((byte[]) value); + if (char.class.isAssignableFrom(type)) + return Arrays.toString((char[]) value); + if (double.class.isAssignableFrom(type)) + return Arrays.toString((double[]) value); + if (float.class.isAssignableFrom(type)) + return Arrays.toString((float[]) value); + if (int.class.isAssignableFrom(type)) + return Arrays.toString((int[]) value); + if (long.class.isAssignableFrom(type)) + return Arrays.toString((long[]) value); + if (short.class.isAssignableFrom(type)) + return Arrays.toString((short[]) value); + if (Object.class.isAssignableFrom(type)) + return Arrays.toString((Object[]) value); else throw new RuntimeException("Unexpected array type in prettyPrintValue. Value was " + value + " type is " + type); - } else if ( RodBinding.class.isAssignableFrom(value.getClass() ) ) { + } else if (RodBinding.class.isAssignableFrom(value.getClass())) { // annoying special case to handle the UnBound() constructor return "none"; - } else if ( value instanceof String ) { + } else if (value instanceof String) { return value.equals("") ? "\"\"" : value; } else { return value.toString(); @@ -337,6 +344,7 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { /** * Attempt to instantiate class c, if possible. Returns null if this proves impossible. + * * @param c * @return */ @@ -344,21 +352,22 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { Object instance = null; try { // don't try to make something where we will obviously fail - if (! c.isEnum() && ! c.isAnnotation() && ! c.isAnonymousClass() && - ! c.isArray() && ! c.isPrimitive() & JVMUtils.isConcrete(c) ) { + if (!c.isEnum() && !c.isAnnotation() && !c.isAnonymousClass() && + !c.isArray() && !c.isPrimitive() & JVMUtils.isConcrete(c)) { instance = c.newInstance(); //System.out.printf("Created object of class %s => %s%n", c, instance); return instance; } else return null; + } catch (IllegalAccessException e) { + } catch (InstantiationException e) { + } catch (ExceptionInInitializerError e) { + } catch (SecurityException e) { } - catch (IllegalAccessException e ) { } - catch (InstantiationException e ) { } - catch (ExceptionInInitializerError e ) { } - catch (SecurityException e ) { } // this last one is super dangerous, but some of these methods catch ClassNotFoundExceptions // and rethrow then as RuntimeExceptions - catch (RuntimeException e) {} + catch (RuntimeException e) { + } return instance; } @@ -366,6 +375,7 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { /** * Create an instance of the GATK parsing engine, for argument processing with GATKDoclet + * * @return */ private ParsingEngine createStandardGATKParsingEngine() { @@ -392,6 +402,7 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { /** * Recursive helper routine to getFieldDoc() + * * @param classDoc * @param name * @param primary @@ -399,21 +410,21 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { */ private FieldDoc getFieldDoc(ClassDoc classDoc, String name, boolean primary) { //System.out.printf("Looking for %s in %s%n", name, classDoc.name()); - for ( FieldDoc fieldDoc : classDoc.fields(false) ) { + for (FieldDoc fieldDoc : classDoc.fields(false)) { //System.out.printf("fieldDoc " + fieldDoc + " name " + fieldDoc.name()); - if ( fieldDoc.name().equals(name) ) + if (fieldDoc.name().equals(name)) return fieldDoc; Field field = HelpUtils.getFieldForFieldDoc(fieldDoc); - if ( field == null ) + if (field == null) throw new RuntimeException("Could not find the field corresponding to " + fieldDoc + ", presumably because the field is inaccessible"); - if ( field.isAnnotationPresent(ArgumentCollection.class) ) { + if (field.isAnnotationPresent(ArgumentCollection.class)) { ClassDoc typeDoc = getRootDoc().classNamed(fieldDoc.type().qualifiedTypeName()); - if ( typeDoc == null ) + if (typeDoc == null) throw new ReviewedStingException("Tried to get javadocs for ArgumentCollection field " + fieldDoc + " but could't find the class in the RootDoc"); else { FieldDoc result = getFieldDoc(typeDoc, name, false); - if ( result != null ) + if (result != null) return result; // else keep searching } @@ -421,11 +432,11 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { } // if we didn't find it here, wander up to the superclass to find the field - if ( classDoc.superclass() != null ) { + if (classDoc.superclass() != null) { return getFieldDoc(classDoc.superclass(), name, false); } - if ( primary ) + if (primary) throw new RuntimeException("No field found for expected field " + name); else return null; @@ -439,20 +450,20 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { * @param s1 the short argument name without -, or null if not provided * @param s2 the long argument name without --, or null if not provided * @return A pair of fully qualified names (with - or --) for the argument. The first - * element is the primary display name while the second (potentially null) is a - * synonymous name. + * element is the primary display name while the second (potentially null) is a + * synonymous name. */ Pair displayNames(String s1, String s2) { s1 = s1 == null ? null : "-" + s1; s2 = s2 == null ? null : "--" + s2; - if ( s1 == null ) return new Pair(s2, null); - if ( s2 == null ) return new Pair(s1, null); + if (s1 == null) return new Pair(s2, null); + if (s2 == null) return new Pair(s1, null); String l = s1.length() > s2.length() ? s1 : s2; String s = s1.length() > s2.length() ? s2 : s1; - if ( l.length() > MAX_DISPLAY_NAME ) + if (l.length() > MAX_DISPLAY_NAME) return new Pair(s, l); else return new Pair(l, s); @@ -460,7 +471,7 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { /** * Returns a human readable string that describes the Type type of a GATK argument. - * + *

* This will include parameterized types, so that Set{T} shows up as Set(T) and not * just Set in the docs. * @@ -469,13 +480,13 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { */ protected String argumentTypeString(Type type) { if (type instanceof ParameterizedType) { - ParameterizedType parameterizedType = (ParameterizedType)type; + ParameterizedType parameterizedType = (ParameterizedType) type; List subs = new ArrayList(); - for (Type actualType: parameterizedType.getActualTypeArguments()) + for (Type actualType : parameterizedType.getActualTypeArguments()) subs.add(argumentTypeString(actualType)); - return argumentTypeString(((ParameterizedType)type).getRawType()) + "[" + Utils.join(",", subs) + "]"; + return argumentTypeString(((ParameterizedType) type).getRawType()) + "[" + Utils.join(",", subs) + "]"; } else if (type instanceof GenericArrayType) { - return argumentTypeString(((GenericArrayType)type).getGenericComponentType()) + "[]"; + return argumentTypeString(((GenericArrayType) type).getGenericComponentType()) + "[]"; } else if (type instanceof WildcardType) { throw new RuntimeException("We don't support wildcards in arguments: " + type); } else if (type instanceof Class) { @@ -489,18 +500,19 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { * Helper routine that returns the Feature.class required by a RodBinding, * either T for RodBinding{T} or List{RodBinding{T}}. Returns null if * the Type doesn't fit either model. + * * @param type * @return */ protected Class getFeatureTypeIfPossible(Type type) { - if ( type instanceof ParameterizedType) { - ParameterizedType paramType = (ParameterizedType)type; - if ( RodBinding.class.isAssignableFrom((Class)paramType.getRawType()) ) { - return (Class)JVMUtils.getParameterizedTypeClass(type); + if (type instanceof ParameterizedType) { + ParameterizedType paramType = (ParameterizedType) type; + if (RodBinding.class.isAssignableFrom((Class) paramType.getRawType())) { + return (Class) JVMUtils.getParameterizedTypeClass(type); } else { - for ( Type paramtype : paramType.getActualTypeArguments() ) { + for (Type paramtype : paramType.getActualTypeArguments()) { Class x = getFeatureTypeIfPossible(paramtype); - if ( x != null ) + if (x != null) return x; } } @@ -512,6 +524,7 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { /** * High-level entry point for creating a FreeMarker map describing the GATK argument * source with definition def, with associated javadoc fieldDoc. + * * @param fieldDoc * @param source * @param def @@ -521,9 +534,9 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { Map root = new HashMap(); Pair names = displayNames(def.shortName, def.fullName); - root.put("name", names.getFirst() ); + root.put("name", names.getFirst()); - if ( names.getSecond() != null ) + if (names.getSecond() != null) root.put("synonyms", names.getSecond()); root.put("required", def.required ? "yes" : "no"); @@ -532,11 +545,11 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { root.put("type", argumentTypeString(source.field.getGenericType())); Class featureClass = getFeatureTypeIfPossible(source.field.getGenericType()); - if ( featureClass != null ) { + if (featureClass != null) { // deal with the allowable types FeatureManager manager = new FeatureManager(); List rodTypes = new ArrayList(); - for (FeatureManager.FeatureDescriptor descriptor : manager.getByFeature(featureClass) ) { + for (FeatureManager.FeatureDescriptor descriptor : manager.getByFeature(featureClass)) { rodTypes.add(String.format("%s", GATKDocUtils.htmlFilenameForClass(descriptor.getCodecClass()), descriptor.getName())); @@ -550,14 +563,14 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { root.put("fulltext", fieldDoc.commentText()); // What are our enum options? - if ( def.validOptions != null ) + if (def.validOptions != null) root.put("options", docForEnumArgument(source.field.getType())); // general attributes List attributes = new ArrayList(); - if ( def.required ) attributes.add("required"); - if ( source.isDeprecated() ) attributes.add("depreciated"); - if ( attributes.size() > 0 ) + if (def.required) attributes.add("required"); + if (source.isDeprecated()) attributes.add("depreciated"); + if (attributes.size() > 0) root.put("attributes", Utils.join(", ", attributes)); return root; @@ -566,21 +579,23 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { /** * Helper routine that provides a FreeMarker map for an enumClass, grabbing the * values of the enum and their associated javadoc documentation. + * * @param enumClass * @return */ @Requires("enumClass.isEnum()") private List> docForEnumArgument(Class enumClass) { ClassDoc doc = this.getDoclet().getClassDocForClass(enumClass); - if ( doc == null ) // || ! doc.isEnum() ) + if (doc == null) // || ! doc.isEnum() ) throw new RuntimeException("Tried to get docs for enum " + enumClass + " but got instead: " + doc); List> bindings = new ArrayList>(); - for (final FieldDoc field : doc.fields(false) ) { + for (final FieldDoc field : doc.fields(false)) { bindings.add( - new HashMap(){{ + new HashMap() {{ put("name", field.name()); - put("summary", field.commentText());}}); + put("summary", field.commentText()); + }}); } return bindings; diff --git a/public/java/src/org/broadinstitute/sting/utils/interval/IntervalUtils.java b/public/java/src/org/broadinstitute/sting/utils/interval/IntervalUtils.java index ea1eaeb51..6ee4af288 100644 --- a/public/java/src/org/broadinstitute/sting/utils/interval/IntervalUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/interval/IntervalUtils.java @@ -6,6 +6,8 @@ import net.sf.picard.util.Interval; import net.sf.picard.util.IntervalList; import net.sf.samtools.SAMFileHeader; import org.apache.log4j.Logger; +import org.broad.tribble.Feature; +import org.broadinstitute.sting.commandline.IntervalBinding; import org.broadinstitute.sting.gatk.datasources.reference.ReferenceDataSource; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; @@ -169,21 +171,23 @@ public class IntervalUtils { */ public static List mergeListsBySetOperator(List setOne, List setTwo, IntervalSetRule rule) { // shortcut, if either set is zero, return the other set - if (setOne == null || setOne.size() == 0 || setTwo == null || setTwo.size() == 0) return (setOne == null || setOne.size() == 0) ? setTwo : setOne; + if (setOne == null || setOne.size() == 0 || setTwo == null || setTwo.size() == 0) + return Collections.unmodifiableList((setOne == null || setOne.size() == 0) ? setTwo : setOne); + + // our master list, since we can't guarantee removal time in a generic list + LinkedList retList = new LinkedList(); // if we're set to UNION, just add them all - if (rule == IntervalSetRule.UNION) { - setOne.addAll(setTwo); - return setOne; + if (rule == null || rule == IntervalSetRule.UNION) { + retList.addAll(setOne); + retList.addAll(setTwo); + return Collections.unmodifiableList(retList); } // else we're INTERSECTION, create two indexes into the lists int iOne = 0; int iTwo = 0; - // our master list, since we can't guarantee removal time in a generic list - LinkedList retList = new LinkedList(); - // merge the second into the first using the rule while (iTwo < setTwo.size() && iOne < setOne.size()) // if the first list is ahead, drop items off the second until we overlap @@ -204,7 +208,7 @@ public class IntervalUtils { throw new UserException.BadInput("The INTERSECTION of your -L options produced no intervals."); // we don't need to add the rest of remaining locations, since we know they don't overlap. return what we have - return retList; + return Collections.unmodifiableList(retList); } /** @@ -218,6 +222,8 @@ public class IntervalUtils { * @return A sorted, merged version of the intervals passed in. */ public static GenomeLocSortedSet sortAndMergeIntervals(GenomeLocParser parser, List intervals, IntervalMergingRule mergingRule) { + // Make a copy of the (potentially unmodifiable) list to be sorted + intervals = new ArrayList(intervals); // sort raw interval list Collections.sort(intervals); // now merge raw interval list @@ -481,6 +487,70 @@ public class IntervalUtils { return new SplitLocusRecursive(split, remaining); } + /** + * Setup the intervals to be processed + */ + public static GenomeLocSortedSet parseIntervalBindings( + final ReferenceDataSource referenceDataSource, + final List> intervals, + final IntervalSetRule intervalSetRule, final IntervalMergingRule intervalMergingRule, final int intervalPadding, + final List> excludeIntervals) { + + Pair includeExcludePair = parseIntervalBindingsPair( + referenceDataSource, intervals, intervalSetRule, intervalMergingRule, intervalPadding, excludeIntervals); + + GenomeLocSortedSet includeSortedSet = includeExcludePair.getFirst(); + GenomeLocSortedSet excludeSortedSet = includeExcludePair.getSecond(); + + if (excludeSortedSet != null) { + return includeSortedSet.subtractRegions(excludeSortedSet); + } else { + return includeSortedSet; + } + } + + public static Pair parseIntervalBindingsPair( + final ReferenceDataSource referenceDataSource, + final List> intervals, + final IntervalSetRule intervalSetRule, final IntervalMergingRule intervalMergingRule, final int intervalPadding, + final List> excludeIntervals) { + GenomeLocParser genomeLocParser = new GenomeLocParser(referenceDataSource.getReference()); + + // if include argument isn't given, create new set of all possible intervals + GenomeLocSortedSet includeSortedSet = ((intervals == null || intervals.size() == 0) ? + GenomeLocSortedSet.createSetFromSequenceDictionary(referenceDataSource.getReference().getSequenceDictionary()) : + loadIntervals(intervals, intervalSetRule, intervalMergingRule, intervalPadding, genomeLocParser)); + + GenomeLocSortedSet excludeSortedSet = null; + if (excludeIntervals != null && excludeIntervals.size() > 0) { + excludeSortedSet = loadIntervals(excludeIntervals, IntervalSetRule.UNION, intervalMergingRule, 0, genomeLocParser); + } + return new Pair(includeSortedSet, excludeSortedSet); + } + + public static GenomeLocSortedSet loadIntervals( + final List> intervalBindings, + final IntervalSetRule rule, final IntervalMergingRule intervalMergingRule, final int padding, + final GenomeLocParser genomeLocParser) { + List allIntervals = new ArrayList(); + for ( IntervalBinding intervalBinding : intervalBindings) { + @SuppressWarnings("unchecked") + List intervals = intervalBinding.getIntervals(genomeLocParser); + + if ( intervals.isEmpty() ) { + logger.warn("The interval file " + intervalBinding.getSource() + " contains no intervals that could be parsed."); + } + + if ( padding > 0 ) { + intervals = getIntervalsWithFlanks(genomeLocParser, intervals, padding); + } + + allIntervals = mergeListsBySetOperator(intervals, allIntervals, rule); + } + + return sortAndMergeIntervals(genomeLocParser, allIntervals, intervalMergingRule); + } + private final static class SplitLocusRecursive { final List split; final LinkedList remaining; @@ -546,7 +616,7 @@ public class IntervalUtils { */ public static List mergeIntervalLocations(final List raw, IntervalMergingRule rule) { if (raw.size() <= 1) - return raw; + return Collections.unmodifiableList(raw); else { ArrayList merged = new ArrayList(); Iterator it = raw.iterator(); @@ -555,7 +625,7 @@ public class IntervalUtils { GenomeLoc curr = it.next(); if (prev.overlapsP(curr)) { prev = prev.merge(curr); - } else if (prev.contiguousP(curr) && rule == IntervalMergingRule.ALL) { + } else if (prev.contiguousP(curr) && (rule == null || rule == IntervalMergingRule.ALL)) { prev = prev.merge(curr); } else { merged.add(prev); @@ -563,7 +633,7 @@ public class IntervalUtils { } } merged.add(prev); - return merged; + return Collections.unmodifiableList(merged); } } @@ -648,6 +718,26 @@ public class IntervalUtils { return expanded; } + /** + * Returns a list of intervals between the passed int locs. Does not extend UNMAPPED locs. + * @param parser A genome loc parser for creating the new intervals + * @param locs Original genome locs + * @param basePairs Number of base pairs on each side of loc + * @return The list of intervals between the locs + */ + public static List getIntervalsWithFlanks(final GenomeLocParser parser, final List locs, final int basePairs) { + + if (locs.size() == 0) + return Collections.emptyList(); + + final List expanded = new ArrayList(); + for ( final GenomeLoc loc : locs ) { + expanded.add(parser.createPaddedGenomeLoc(loc, basePairs)); + } + + return sortAndMergeIntervals(parser, expanded, IntervalMergingRule.ALL).toList(); + } + private static LinkedHashMap> splitByContig(List sorted) { LinkedHashMap> splits = new LinkedHashMap>(); GenomeLoc last = null; diff --git a/public/java/src/org/broadinstitute/sting/utils/pileup/AbstractReadBackedPileup.java b/public/java/src/org/broadinstitute/sting/utils/pileup/AbstractReadBackedPileup.java index bcd220dca..e71cd01be 100644 --- a/public/java/src/org/broadinstitute/sting/utils/pileup/AbstractReadBackedPileup.java +++ b/public/java/src/org/broadinstitute/sting/utils/pileup/AbstractReadBackedPileup.java @@ -1,5 +1,5 @@ /* - * Copyright (c) 2010, The Broad Institute + * Copyright (c) 2012, The Broad Institute * * Permission is hereby granted, free of charge, to any person * obtaining a copy of this software and associated documentation @@ -448,10 +448,7 @@ public abstract class AbstractReadBackedPileup filteredTracker = new UnifiedPileupElementTracker(); for (PE p : pileupElementTracker) { - if (p.getRead().getMappingQuality() >= minMapQ && - (p.isDeletion() || - ((p instanceof ExtendedEventPileupElement) && ((ExtendedEventPileupElement) p).getType() == ExtendedEventPileupElement.Type.NOEVENT) || - p.getQual() >= minBaseQ)) { + if (p.getRead().getMappingQuality() >= minMapQ && (p.isDeletion() || p.getQual() >= minBaseQ)) { filteredTracker.add(p); } } @@ -696,26 +693,32 @@ public abstract class AbstractReadBackedPileup getPileupsForSamples(Collection sampleNames) { Map result = new HashMap(); - Map> trackerMap = new HashMap>(); - - for (String sample : sampleNames) { // initialize pileups for each sample - UnifiedPileupElementTracker filteredTracker = new UnifiedPileupElementTracker(); - trackerMap.put(sample, filteredTracker); - } - - for (PE p : pileupElementTracker) { // go through all pileup elements only once and add them to the respective sample's pileup - GATKSAMRecord read = p.getRead(); - if (read.getReadGroup() != null) { - String sample = read.getReadGroup().getSample(); - UnifiedPileupElementTracker tracker = trackerMap.get(sample); - if (tracker != null) // we only add the pileup the requested samples. Completely ignore the rest - tracker.add(p); + if (pileupElementTracker instanceof PerSamplePileupElementTracker) { + PerSamplePileupElementTracker tracker = (PerSamplePileupElementTracker) pileupElementTracker; + for (String sample : sampleNames) { + PileupElementTracker filteredElements = tracker.getElements(sample); + if (filteredElements != null) + result.put(sample, createNewPileup(loc, filteredElements)); } + } else { + Map> trackerMap = new HashMap>(); + + for (String sample : sampleNames) { // initialize pileups for each sample + UnifiedPileupElementTracker filteredTracker = new UnifiedPileupElementTracker(); + trackerMap.put(sample, filteredTracker); + } + for (PE p : pileupElementTracker) { // go through all pileup elements only once and add them to the respective sample's pileup + GATKSAMRecord read = p.getRead(); + if (read.getReadGroup() != null) { + String sample = read.getReadGroup().getSample(); + UnifiedPileupElementTracker tracker = trackerMap.get(sample); + if (tracker != null) // we only add the pileup the requested samples. Completely ignore the rest + tracker.add(p); + } + } + for (Map.Entry> entry : trackerMap.entrySet()) // create the RBP for each sample + result.put(entry.getKey(), createNewPileup(loc, entry.getValue())); } - - for (Map.Entry> entry : trackerMap.entrySet()) // create the RBP for each sample - result.put(entry.getKey(), createNewPileup(loc, entry.getValue())); - return result; } diff --git a/public/java/src/org/broadinstitute/sting/utils/pileup/ExtendedEventPileupElement.java b/public/java/src/org/broadinstitute/sting/utils/pileup/ExtendedEventPileupElement.java deleted file mode 100644 index 8e63fb0b1..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/pileup/ExtendedEventPileupElement.java +++ /dev/null @@ -1,154 +0,0 @@ -package org.broadinstitute.sting.utils.pileup; - -import net.sf.samtools.SAMRecord; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -import java.util.Arrays; - -/** - * In the "standard" locus traversal mode, - * the traversal is performed striclty over the reference bases. Thus, only pileups of bases (and hence local events - * such as point mutations) are "seen" at every invocation of the walker's map() function at every (genomic) locus. Deletions - * are seen on the base-by-base basis (i.e. the pileup does keep the information about the current reference base being deleted - * in some reads), but the information about the extended event (deletion length, string of all deleted bases) is not kept. - * The insertions that may be present in some reads are not seen at all in such strict reference traversal mode. - *

- * By convention, any extended event (indel) is mapped onto the reference at the last base prior to the event (i.e. - * last base before the insertion or deletion). If the special "extended" traversal mode is turned on and there is - * an indel in at least one read that maps onto the reference position Z, the walker's map function will be called twice: - * first call will be performed in a "standard" mode, with a pileup of bases over the position Z, and then the additional - * call will be made at the same position with a pileup of event/noevent calls, where events are extended and contain - * full information about insertions/deletions. Then the next, "standard", call to map() will be performed at the next - * (covered) reference position. Note that if the extended event at Z was a deletion, the "standard" base pileup at - * Z+1 and following bases may still contain deleted bases. However the fully extended event call will be performed - * only once, at the position where the indel maps (starts). - *

- * This class wraps an "extended" event (indel) so that in can be added to a pileup of events at a given location. - *

- * Created by IntelliJ IDEA. - * User: asivache - * Date: Dec 21, 2009 - * Time: 2:57:55 PM - * To change this template use File | Settings | File Templates. - */ - -// Extended events are slated for removal -public class ExtendedEventPileupElement extends PileupElement { - public enum Type { - NOEVENT, DELETION, INSERTION - } - - private Type type = null; - private int eventLength = -1; - private String eventBases = null; // if it is a deletion, we do not have information about the actual deleted bases - // in the read itself, so we fill the string with D's; for insertions we keep actual inserted bases - private SAMRecord read; - private int offset; // position in the read immediately BEFORE the event - // This is broken! offset is always zero because these member variables are shadowed by base class - - - public ExtendedEventPileupElement(GATKSAMRecord read, int offset, int eventLength, String eventBases, Type type) { - super(read, offset, type == Type.DELETION, false, false, false, false, false, null, -1); // extended events are slated for removal - this.read = read; - this.offset = offset; - this.eventLength = eventLength; - this.eventBases = eventBases; - this.type = type; - } - - /** - * Quick constructor for insertions. - * - * @param read the read, in which the indel is observed - * @param offset position in the read immediately before the indel (can be -1 if read starts with an insertion) - * @param length length of the indel (number of inserted or deleted bases); length <=0 indicates that the read has no indel (NOEVENT) - * @param eventBases inserted bases. null indicates that the event is a deletion; ignored if length<=0 (noevent) - */ - public ExtendedEventPileupElement(GATKSAMRecord read, int offset, int length, byte[] eventBases) { - this(read, offset, length, new String(eventBases).toUpperCase(), Type.INSERTION); - } - - /** - * Quick constructor for non indels (matches) - * - * @param read the read - * @param offset where in the read the match is - */ - public ExtendedEventPileupElement(GATKSAMRecord read, int offset) { - this(read, offset, -1, null, Type.NOEVENT); - } - - /** - * Quick constructor for deletions - * - * @param read the read - * @param offset the last base before the deletion starts (left aligned deletion) - * @param length length of this deletion - */ - public ExtendedEventPileupElement(GATKSAMRecord read, int offset, int length) { - this(read, offset, length, null, Type.DELETION); - } - - public boolean isDeletion() { - return type == Type.DELETION; - } - - public boolean isInsertion() { - return type == Type.INSERTION; - } - - public boolean isIndel() { - return isDeletion() || isInsertion(); - } - - public Type getType() { - return type; - } - - // The offset can be negative with insertions at the start of the read, but a valid base does exist at this position with - // a valid base quality. The following code attempts to compensate for that.' - - @Override - public byte getBase() { - return getBase(offset >= 0 ? offset : offset + eventLength); - } - - @Override - public int getBaseIndex() { - return getBaseIndex(offset >= 0 ? offset : offset + eventLength); - } - - @Override - public byte getQual() { - return getQual(offset >= 0 ? offset : offset + eventLength); - } - - /** - * Returns length of the event (number of inserted or deleted bases - */ - public int getEventLength() { - return eventLength; - } - - /** - * Returns actual sequence of inserted bases, or a null if the event is a deletion or if there is no event in the associated read. - */ - public String getEventBases() { - return eventBases; - } - - @Override - public String toString() { - char c = '.'; - String fillStr = null; - if (isDeletion()) { - c = '-'; - char[] filler = new char[eventLength]; - Arrays.fill(filler, 'D'); - fillStr = new String(filler); - } else if (isInsertion()) c = '+'; - return String.format("%s @ %d = %c%s MQ%d", getRead().getReadName(), getOffset(), c, isIndel() ? - (isInsertion() ? eventBases : fillStr) : "", getMappingQual()); - } - -} diff --git a/public/java/src/org/broadinstitute/sting/utils/pileup/ReadBackedExtendedEventPileup.java b/public/java/src/org/broadinstitute/sting/utils/pileup/ReadBackedExtendedEventPileup.java deleted file mode 100644 index 3d872f9fb..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/pileup/ReadBackedExtendedEventPileup.java +++ /dev/null @@ -1,208 +0,0 @@ -/* - * Copyright (c) 2010, The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -package org.broadinstitute.sting.utils.pileup; - -import net.sf.samtools.SAMRecord; -import org.broadinstitute.sting.utils.GenomeLoc; -import org.broadinstitute.sting.utils.collections.Pair; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -import java.util.Collection; -import java.util.List; - -/** - * A clean interface for working with extended event pileups. - * - * @author mhanna - * @version 0.1 - */ -public interface ReadBackedExtendedEventPileup extends ReadBackedPileup { - /** - * Returns a new ReadBackedPileup that is free of deletion spanning reads in this pileup. Note that this - * does not copy the data, so both ReadBackedPileups should not be changed. Doesn't make an unnecessary copy - * of the pileup (just returns this) if there are no deletions in the pileup. - * - * @return - */ - public ReadBackedExtendedEventPileup getPileupWithoutDeletions(); - - /** - * Returns a new ReadBackedPileup where only one read from an overlapping read - * pair is retained. If the two reads in question disagree to their basecall, - * neither read is retained. If they agree on the base, the read with the higher - * quality observation is retained - * - * @return the newly filtered pileup - */ - public ReadBackedExtendedEventPileup getOverlappingFragmentFilteredPileup(); - - /** - * Returns a new ReadBackedPileup that is free of mapping quality zero reads in this pileup. Note that this - * does not copy the data, so both ReadBackedPileups should not be changed. Doesn't make an unnecessary copy - * of the pileup (just returns this) if there are no MQ0 reads in the pileup. - * - * @return - */ - public ReadBackedExtendedEventPileup getPileupWithoutMappingQualityZeroReads(); - - - /** - * Gets the pileup consisting of only reads on the positive strand. - * @return A read-backed pileup consisting only of reads on the positive strand. - */ - public ReadBackedExtendedEventPileup getPositiveStrandPileup(); - - /** - * Gets the pileup consisting of only reads on the negative strand. - * @return A read-backed pileup consisting only of reads on the negative strand. - */ - public ReadBackedExtendedEventPileup getNegativeStrandPileup(); - - /** - * Gets a pileup consisting of all those elements passed by a given filter. - * @param filter Filter to use when testing for elements. - * @return a pileup without the given filtered elements. - */ - public ReadBackedExtendedEventPileup getFilteredPileup(PileupElementFilter filter); - - /** Returns subset of this pileup that contains only bases with quality >= minBaseQ, coming from - * reads with mapping qualities >= minMapQ. This method allocates and returns a new instance of ReadBackedPileup. - * @param minBaseQ - * @param minMapQ - * @return - */ - public ReadBackedExtendedEventPileup getBaseAndMappingFilteredPileup( int minBaseQ, int minMapQ ); - - /** Returns subset of this pileup that contains only bases with quality >= minBaseQ. - * This method allocates and returns a new instance of ReadBackedPileup. - * @param minBaseQ - * @return - */ - public ReadBackedExtendedEventPileup getBaseFilteredPileup( int minBaseQ ); - - /** Returns subset of this pileup that contains only bases coming from reads with mapping quality >= minMapQ. - * This method allocates and returns a new instance of ReadBackedPileup. - * @param minMapQ - * @return - */ - public ReadBackedExtendedEventPileup getMappingFilteredPileup( int minMapQ ); - - /** - * Returns a pileup randomly downsampled to the desiredCoverage. - * - * @param desiredCoverage - * @return - */ - public ReadBackedExtendedEventPileup getDownsampledPileup(int desiredCoverage); - - /** - * Gets a list of all the samples stored in this pileup. - * @return List of samples in this pileup. - */ - public Collection getSamples(); - - public Iterable toExtendedIterable(); - - /** - * Returns the number of deletion events in this pileup - * - * @return - */ - public int getNumberOfDeletions(); - - /** - * Returns the number of insertion events in this pileup - * - * @return - */ - public int getNumberOfInsertions(); - - /** Returns the length of the longest deletion observed at the site this - * pileup is associated with (NOTE: by convention, both insertions and deletions - * are associated with genomic location immediately before the actual event). If - * there are no deletions at the site, returns 0. - * @return - */ - public int getMaxDeletionLength(); - - /** - * Returns the number of mapping quality zero reads in this pileup. - * @return - */ - public int getNumberOfMappingQualityZeroReads(); - - /** - * @return the number of elements in this pileup - */ - public int getNumberOfElements(); - - /** - * @return the location of this pileup - */ - public GenomeLoc getLocation(); - - /** - * Returns a list of the reads in this pileup. Note this call costs O(n) and allocates fresh lists each time - * @return - */ - public List getReads(); - - /** - * Returns a list of the offsets in this pileup. Note this call costs O(n) and allocates fresh lists each time - * @return - */ - public List getOffsets(); - - /** - * Returns an array of the events in this pileup ('I', 'D', or '.'). Note this call costs O(n) and allocates fresh array each time - * @return - */ - public byte[] getEvents(); - - /** A shortcut for getEventStringsWithCounts(null); - * - * @return - */ - public List> getEventStringsWithCounts(); - - /** Returns String representation of all distinct extended events (indels) at the site along with - * observation counts (numbers of reads) for each distinct event. If refBases is null, a simple string representation for - * deletions will be generated as "D" (i.e. "5D"); if the reference bases are provided, the actual - * deleted sequence will be used in the string representation (e.g. "-AAC"). - * @param refBases reference bases, starting with the current locus (i.e. the one immediately before the indel), and - * extending far enough to accomodate the longest deletion (i.e. size of refBases must be at least 1+) - * @return list of distinct events; first element of a pair is a string representation of the event, second element - * gives the number of reads, in which that event was observed - */ - public List> getEventStringsWithCounts(byte[] refBases); - - public String getShortPileupString(); - - /** - * Get an array of the mapping qualities - * @return - */ - public byte[] getMappingQuals(); -} diff --git a/public/java/src/org/broadinstitute/sting/utils/pileup/ReadBackedExtendedEventPileupImpl.java b/public/java/src/org/broadinstitute/sting/utils/pileup/ReadBackedExtendedEventPileupImpl.java deleted file mode 100644 index 9d1e8ab62..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/pileup/ReadBackedExtendedEventPileupImpl.java +++ /dev/null @@ -1,248 +0,0 @@ -/* - * Copyright (c) 2010, The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ -package org.broadinstitute.sting.utils.pileup; - -import org.broadinstitute.sting.utils.GenomeLoc; -import org.broadinstitute.sting.utils.collections.Pair; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - -import java.util.*; - -public class ReadBackedExtendedEventPileupImpl extends AbstractReadBackedPileup implements ReadBackedExtendedEventPileup { - private int nInsertions; - private int maxDeletionLength; // cached value of the length of the longest deletion observed at the site - - public ReadBackedExtendedEventPileupImpl(GenomeLoc loc, List pileupElements) { - super(loc, pileupElements); - } - - public ReadBackedExtendedEventPileupImpl(GenomeLoc loc, PileupElementTracker tracker) { - super(loc, tracker); - } - - /** - * Optimization of above constructor where all of the cached data is provided - * - * @param loc - * @param pileup - */ - public ReadBackedExtendedEventPileupImpl(GenomeLoc loc, List pileup, int size, - int maxDeletionLength, int nInsertions, int nDeletions, int nMQ0Reads) { - super(loc, pileup, size, nDeletions, nMQ0Reads); - this.maxDeletionLength = maxDeletionLength; - this.nInsertions = nInsertions; - } - - // this is the good new one - public ReadBackedExtendedEventPileupImpl(GenomeLoc loc, Map pileupElementsBySample) { - super(loc, pileupElementsBySample); - } - - /** - * Calculate cached sizes, nDeletion, and base counts for the pileup. This calculation is done upfront, - * so you pay the cost at the start, but it's more efficient to do this rather than pay the cost of calling - * sizes, nDeletion, etc. over and over potentially. - */ - @Override - protected void calculateCachedData() { - super.calculateCachedData(); - - nInsertions = 0; - nMQ0Reads = 0; - - for (ExtendedEventPileupElement p : this.toExtendedIterable()) { - - if (p.isDeletion()) { - maxDeletionLength = Math.max(maxDeletionLength, p.getEventLength()); - } else { - if (p.isInsertion()) nInsertions++; - } - } - } - - @Override - protected void addPileupToCumulativeStats(AbstractReadBackedPileup pileup) { - super.addPileupToCumulativeStats(pileup); - ReadBackedExtendedEventPileup extendedEventPileup = ((ReadBackedExtendedEventPileup) pileup); - this.nInsertions += extendedEventPileup.getNumberOfInsertions(); - this.maxDeletionLength += extendedEventPileup.getMaxDeletionLength(); - } - - @Override - protected ReadBackedExtendedEventPileupImpl createNewPileup(GenomeLoc loc, PileupElementTracker tracker) { - return new ReadBackedExtendedEventPileupImpl(loc, tracker); - } - - @Override - protected ExtendedEventPileupElement createNewPileupElement(final GATKSAMRecord read, final int offset, final boolean isDeletion, final boolean isBeforeDeletion, final boolean isAfterDeletion, final boolean isBeforeInsertion, final boolean isAfterInsertion, final boolean isNextToSoftClip) { - throw new UnsupportedOperationException("Not enough information provided to create a new pileup element"); - } - @Override - protected ExtendedEventPileupElement createNewPileupElement(final GATKSAMRecord read, final int offset, final boolean isDeletion, final boolean isBeforeDeletion, final boolean isAfterDeletion, final boolean isBeforeInsertion, final boolean isAfterInsertion, final boolean isNextToSoftClip, final String nextEventBases, final int nextEventLength ) { - throw new UnsupportedOperationException("Not enough information provided to create a new pileup element"); - } - - - /** - * Returns the number of insertion events in this pileup - * - * @return - */ - @Override - public int getNumberOfInsertions() { - return nInsertions; - } - - /** - * Returns the length of the longest deletion observed at the site this - * pileup is associated with (NOTE: by convention, both insertions and deletions - * are associated with genomic location immediately before the actual event). If - * there are no deletions at the site, returns 0. - * - * @return - */ - @Override - public int getMaxDeletionLength() { - return maxDeletionLength; - } - - public Iterable toExtendedIterable() { - return new Iterable() { - public Iterator iterator() { - return pileupElementTracker.iterator(); - } - }; - } - - /** - * Returns an array of the events in this pileup ('I', 'D', or '.'). Note this call costs O(n) and allocates fresh array each time - * - * @return - */ - @Override - public byte[] getEvents() { - byte[] v = new byte[getNumberOfElements()]; - int i = 0; - for (ExtendedEventPileupElement e : this.toExtendedIterable()) { - switch (e.getType()) { - case INSERTION: - v[i] = 'I'; - break; - case DELETION: - v[i] = 'D'; - break; - case NOEVENT: - v[i] = '.'; - break; - default: - throw new ReviewedStingException("Unknown event type encountered: " + e.getType()); - } - i++; - } - return v; - } - - /** - * A shortcut for getEventStringsWithCounts(null); - * - * @return - */ - @Override - public List> getEventStringsWithCounts() { - return getEventStringsWithCounts(null); - } - - @Override - public String getShortPileupString() { - // In the pileup format, each extended event line has genomic position (chromosome name and offset), - // reference "base" (always set to "E" for E(xtended)), then 'I','D', or '.' symbol for each read representing - // insertion, deletion or no-event, respectively. - return String.format("%s %s E %s", - getLocation().getContig(), getLocation().getStart(), // chromosome name and coordinate - new String(getEvents())); - } - - /** - * Returns String representation of all distinct extended events (indels) at the site along with - * observation counts (numbers of reads) for each distinct event. If refBases is null, a simple string representation for - * deletions will be generated as "D" (i.e. "5D"); if the reference bases are provided, the actual - * deleted sequence will be used in the string representation (e.g. "-AAC"). - * - * @param refBases reference bases, starting with the current locus (i.e. the one immediately before the indel), and - * extending far enough to accomodate the longest deletion (i.e. size of refBases must be at least 1+) - * @return list of distinct events; first element of a pair is a string representation of the event, second element - * gives the number of reads, in which that event was observed - */ - @Override - public List> getEventStringsWithCounts(byte[] refBases) { - Map events = new HashMap(); - - for (ExtendedEventPileupElement e : this.toExtendedIterable()) { - Integer cnt; - String indel = null; - switch (e.getType()) { - case INSERTION: - indel = "+" + e.getEventBases(); - break; - case DELETION: - indel = getDeletionString(e.getEventLength(), refBases); - break; - case NOEVENT: - continue; - default: - throw new ReviewedStingException("Unknown event type encountered: " + e.getType()); - } - - cnt = events.get(indel); - if (cnt == null) events.put(indel, 1); - else events.put(indel, cnt.intValue() + 1); - } - - List> eventList = new ArrayList>(events.size()); - for (Map.Entry m : events.entrySet()) { - eventList.add(new Pair(m.getKey(), m.getValue())); - } - return eventList; - } - - /** - * Builds string representation of the deletion event. If refBases is null, the representation will be - * "D" (e.g. "5D"); if the reference bases are provided, a verbose representation (e.g. "-AAC") - * will be generated. NOTE: refBases must start with the base prior to the actual deletion (i.e. deleted - * base(s) are refBase[1], refBase[2], ...), and the length of the passed array must be sufficient to accomodate the - * deletion length (i.e. size of refBase must be at least length+1). - * - * @param length - * @param refBases - * @return - */ - private String getDeletionString(int length, byte[] refBases) { - if (refBases == null) { - return Integer.toString(length) + "D"; // if we do not have reference bases, we can only report something like "5D" - } else { - return "-" + new String(refBases, 1, length).toUpperCase(); - } - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/recalibration/BaseRecalibration.java b/public/java/src/org/broadinstitute/sting/utils/recalibration/BaseRecalibration.java index d85fb03cd..b5f7ad046 100644 --- a/public/java/src/org/broadinstitute/sting/utils/recalibration/BaseRecalibration.java +++ b/public/java/src/org/broadinstitute/sting/utils/recalibration/BaseRecalibration.java @@ -25,14 +25,17 @@ package org.broadinstitute.sting.utils.recalibration; +import net.sf.samtools.SAMTag; +import net.sf.samtools.SAMUtils; import org.broadinstitute.sting.gatk.walkers.bqsr.*; -import org.broadinstitute.sting.utils.BitSetUtils; +import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.QualityUtils; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.collections.NestedIntegerArray; +import org.broadinstitute.sting.utils.collections.NestedHashMap; +import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import java.io.File; -import java.util.*; /** * Utility methods to facilitate on-the-fly base quality score recalibration. @@ -42,40 +45,46 @@ import java.util.*; */ public class BaseRecalibration { - private QuantizationInfo quantizationInfo; // histogram containing the map for qual quantization (calculated after recalibration is done) - private LinkedHashMap> keysAndTablesMap; // quick access reference to the read group table and its key manager - private ArrayList requestedCovariates = new ArrayList(); // list of all covariates to be used in this calculation + private final static int MAXIMUM_RECALIBRATED_READ_LENGTH = 5000; + private final ReadCovariates readCovariates; + private final QuantizationInfo quantizationInfo; // histogram containing the map for qual quantization (calculated after recalibration is done) + private final RecalibrationTables recalibrationTables; + private final Covariate[] requestedCovariates; // list of all covariates to be used in this calculation + + private final boolean disableIndelQuals; + private final int preserveQLessThan; + private final boolean emitOriginalQuals; + + private static final NestedHashMap[] qualityScoreByFullCovariateKey = new NestedHashMap[EventType.values().length]; // Caches the result of performSequentialQualityCalculation(..) for all sets of covariate values. + static { + for (int i = 0; i < EventType.values().length; i++) + qualityScoreByFullCovariateKey[i] = new NestedHashMap(); + } /** * Constructor using a GATK Report file * - * @param RECAL_FILE a GATK Report file containing the recalibration information + * @param RECAL_FILE a GATK Report file containing the recalibration information * @param quantizationLevels number of bins to quantize the quality scores + * @param disableIndelQuals if true, do not emit base indel qualities + * @param preserveQLessThan preserve quality scores less than this value */ - public BaseRecalibration(final File RECAL_FILE, int quantizationLevels) { + public BaseRecalibration(final File RECAL_FILE, final int quantizationLevels, final boolean disableIndelQuals, final int preserveQLessThan, final boolean emitOriginalQuals) { RecalibrationReport recalibrationReport = new RecalibrationReport(RECAL_FILE); - keysAndTablesMap = recalibrationReport.getKeysAndTablesMap(); + recalibrationTables = recalibrationReport.getRecalibrationTables(); requestedCovariates = recalibrationReport.getRequestedCovariates(); quantizationInfo = recalibrationReport.getQuantizationInfo(); if (quantizationLevels == 0) // quantizationLevels == 0 means no quantization, preserve the quality scores quantizationInfo.noQuantization(); else if (quantizationLevels > 0 && quantizationLevels != quantizationInfo.getQuantizationLevels()) // any other positive value means, we want a different quantization than the one pre-calculated in the recalibration report. Negative values mean the user did not provide a quantization argument, and just wnats to use what's in the report. quantizationInfo.quantizeQualityScores(quantizationLevels); - } - /** - * This constructor only exists for testing purposes. - * - * @param quantizationInfo the quantization info object - * @param keysAndTablesMap the map of key managers and recalibration tables - * @param requestedCovariates the list of requested covariates - */ - protected BaseRecalibration(QuantizationInfo quantizationInfo, LinkedHashMap> keysAndTablesMap, ArrayList requestedCovariates) { - this.quantizationInfo = quantizationInfo; - this.keysAndTablesMap = keysAndTablesMap; - this.requestedCovariates = requestedCovariates; + readCovariates = new ReadCovariates(MAXIMUM_RECALIBRATED_READ_LENGTH, requestedCovariates.length); + this.disableIndelQuals = disableIndelQuals; + this.preserveQLessThan = preserveQLessThan; + this.emitOriginalQuals = emitOriginalQuals; } /** @@ -86,26 +95,39 @@ public class BaseRecalibration { * @param read the read to recalibrate */ public void recalibrateRead(final GATKSAMRecord read) { - final ReadCovariates readCovariates = RecalDataManager.computeCovariates(read, requestedCovariates); // compute all covariates for the read - for (final EventType errorModel : EventType.values()) { // recalibrate all three quality strings - final byte[] originalQuals = read.getBaseQualities(errorModel); - final byte[] recalQuals = originalQuals.clone(); - - for (int offset = 0; offset < read.getReadLength(); offset++) { // recalibrate all bases in the read - byte qualityScore = originalQuals[offset]; - - if (qualityScore >= QualityUtils.MIN_USABLE_Q_SCORE) { // only recalibrate usable qualities (the original quality will come from the instrument -- reported quality) - final BitSet[] keySet = readCovariates.getKeySet(offset, errorModel); // get the keyset for this base using the error model - qualityScore = performSequentialQualityCalculation(keySet, errorModel); // recalibrate the base - } - recalQuals[offset] = qualityScore; + if (emitOriginalQuals && read.getAttribute(SAMTag.OQ.name()) == null) { // Save the old qualities if the tag isn't already taken in the read + try { + read.setAttribute(SAMTag.OQ.name(), SAMUtils.phredToFastq(read.getBaseQualities())); + } catch (IllegalArgumentException e) { + throw new UserException.MalformedBAM(read, "illegal base quality encountered; " + e.getMessage()); } - read.setBaseQualities(recalQuals, errorModel); + } + + RecalDataManager.computeCovariates(read, requestedCovariates, readCovariates); // compute all covariates for the read + for (final EventType errorModel : EventType.values()) { // recalibrate all three quality strings + if (disableIndelQuals && errorModel != EventType.BASE_SUBSTITUTION) { + read.setBaseQualities(null, errorModel); + continue; + } + + final byte[] quals = read.getBaseQualities(errorModel); + final int[][] fullReadKeySet = readCovariates.getKeySet(errorModel); // get the keyset for this base using the error model + + final int readLength = read.getReadLength(); + for (int offset = 0; offset < readLength; offset++) { // recalibrate all bases in the read + + final byte originalQualityScore = quals[offset]; + + if (originalQualityScore >= preserveQLessThan) { // only recalibrate usable qualities (the original quality will come from the instrument -- reported quality) + final int[] keySet = fullReadKeySet[offset]; // get the keyset for this base using the error model + final byte recalibratedQualityScore = performSequentialQualityCalculation(keySet, errorModel); // recalibrate the base + quals[offset] = recalibratedQualityScore; + } + } + read.setBaseQualities(quals, errorModel); } } - - /** * Implements a serial recalibration of the reads using the combinational table. * First, we perform a positional recalibration, and then a subsequent dinuc correction. @@ -123,65 +145,58 @@ public class BaseRecalibration { * @param errorModel the event type * @return A recalibrated quality score as a byte */ - protected byte performSequentialQualityCalculation(BitSet[] key, EventType errorModel) { - final String UNRECOGNIZED_REPORT_TABLE_EXCEPTION = "Unrecognized table. Did you add an extra required covariate? This is a hard check that needs propagate through the code"; - final String TOO_MANY_KEYS_EXCEPTION = "There should only be one key for the RG collapsed table, something went wrong here"; + protected byte performSequentialQualityCalculation(final int[] key, final EventType errorModel) { - final byte qualFromRead = (byte) BitSetUtils.shortFrom(key[1]); + final byte qualFromRead = (byte)(long)key[1]; + final double globalDeltaQ = calculateGlobalDeltaQ(recalibrationTables.getTable(RecalibrationTables.TableType.READ_GROUP_TABLE), key, errorModel); + final double deltaQReported = calculateDeltaQReported(recalibrationTables.getTable(RecalibrationTables.TableType.QUALITY_SCORE_TABLE), key, errorModel, globalDeltaQ, qualFromRead); + final double deltaQCovariates = calculateDeltaQCovariates(recalibrationTables, key, errorModel, globalDeltaQ, deltaQReported, qualFromRead); - double globalDeltaQ = 0.0; - double deltaQReported = 0.0; - double deltaQCovariates = 0.0; - - for (Map.Entry> mapEntry : keysAndTablesMap.entrySet()) { - BQSRKeyManager keyManager = mapEntry.getKey(); - Map table = mapEntry.getValue(); - - switch(keyManager.getRequiredCovariates().size()) { - case 1: // this is the ReadGroup table - List bitKeys = keyManager.bitSetsFromAllKeys(key, errorModel); // calculate the shift in quality due to the read group - if (bitKeys.size() > 1) - throw new ReviewedStingException(TOO_MANY_KEYS_EXCEPTION); - - final RecalDatum empiricalQualRG = table.get(bitKeys.get(0)); - if (empiricalQualRG != null) { - final double globalDeltaQEmpirical = empiricalQualRG.getEmpiricalQuality(); - final double aggregrateQReported = empiricalQualRG.getEstimatedQReported(); - globalDeltaQ = globalDeltaQEmpirical - aggregrateQReported; - } - break; - case 2: - if (keyManager.getOptionalCovariates().isEmpty()) { // this is the QualityScore table - bitKeys = keyManager.bitSetsFromAllKeys(key, errorModel); // calculate the shift in quality due to the reported quality score - if (bitKeys.size() > 1) - throw new ReviewedStingException(TOO_MANY_KEYS_EXCEPTION); - - final RecalDatum empiricalQualQS = table.get(bitKeys.get(0)); - if (empiricalQualQS != null) { - final double deltaQReportedEmpirical = empiricalQualQS.getEmpiricalQuality(); - deltaQReported = deltaQReportedEmpirical - qualFromRead - globalDeltaQ; - } - } - else { // this is the table with all the covariates - bitKeys = keyManager.bitSetsFromAllKeys(key, errorModel); // calculate the shift in quality due to each covariate by itself in turn - for (BitSet k : bitKeys) { - final RecalDatum empiricalQualCO = table.get(k); - if (empiricalQualCO != null) { - double deltaQCovariateEmpirical = empiricalQualCO.getEmpiricalQuality(); - deltaQCovariates += (deltaQCovariateEmpirical - qualFromRead - (globalDeltaQ + deltaQReported)); - } - } - } - break; - default: - throw new ReviewedStingException(UNRECOGNIZED_REPORT_TABLE_EXCEPTION); - } - } - - double recalibratedQual = qualFromRead + globalDeltaQ + deltaQReported + deltaQCovariates; // calculate the recalibrated qual using the BQSR formula - recalibratedQual = QualityUtils.boundQual((int) Math.round(recalibratedQual), QualityUtils.MAX_RECALIBRATED_Q_SCORE); // recalibrated quality is bound between 1 and MAX_QUAL + double recalibratedQual = qualFromRead + globalDeltaQ + deltaQReported + deltaQCovariates; // calculate the recalibrated qual using the BQSR formula + recalibratedQual = QualityUtils.boundQual(MathUtils.fastRound(recalibratedQual), QualityUtils.MAX_RECALIBRATED_Q_SCORE); // recalibrated quality is bound between 1 and MAX_QUAL return quantizationInfo.getQuantizedQuals().get((int) recalibratedQual); // return the quantized version of the recalibrated quality } + private double calculateGlobalDeltaQ(final NestedIntegerArray table, final int[] key, final EventType errorModel) { + double result = 0.0; + + final RecalDatum empiricalQualRG = table.get(key[0], errorModel.index); + if (empiricalQualRG != null) { + final double globalDeltaQEmpirical = empiricalQualRG.getEmpiricalQuality(); + final double aggregrateQReported = empiricalQualRG.getEstimatedQReported(); + result = globalDeltaQEmpirical - aggregrateQReported; + } + + return result; + } + + private double calculateDeltaQReported(final NestedIntegerArray table, final int[] key, final EventType errorModel, final double globalDeltaQ, final byte qualFromRead) { + double result = 0.0; + + final RecalDatum empiricalQualQS = table.get(key[0], key[1], errorModel.index); + if (empiricalQualQS != null) { + final double deltaQReportedEmpirical = empiricalQualQS.getEmpiricalQuality(); + result = deltaQReportedEmpirical - qualFromRead - globalDeltaQ; + } + + return result; + } + + private double calculateDeltaQCovariates(final RecalibrationTables recalibrationTables, final int[] key, final EventType errorModel, final double globalDeltaQ, final double deltaQReported, final byte qualFromRead) { + double result = 0.0; + + // for all optional covariates + for (int i = 2; i < requestedCovariates.length; i++) { + if (key[i] < 0) + continue; + + final RecalDatum empiricalQualCO = recalibrationTables.getTable(i).get(key[0], key[1], key[i], errorModel.index); + if (empiricalQualCO != null) { + final double deltaQCovariateEmpirical = empiricalQualCO.getEmpiricalQuality(); + result += (deltaQCovariateEmpirical - qualFromRead - (globalDeltaQ + deltaQReported)); + } + } + return result; + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/recalibration/QualQuantizer.java b/public/java/src/org/broadinstitute/sting/utils/recalibration/QualQuantizer.java index 9e20e9afc..62edd5fac 100644 --- a/public/java/src/org/broadinstitute/sting/utils/recalibration/QualQuantizer.java +++ b/public/java/src/org/broadinstitute/sting/utils/recalibration/QualQuantizer.java @@ -422,40 +422,42 @@ public class QualQuantizer { } private final void addQualHistogramToReport(final GATKReport report) { - report.addTable("QualHistogram", "Quality score histogram provided to report"); + report.addTable("QualHistogram", "Quality score histogram provided to report", 2); GATKReportTable table = report.getTable("QualHistogram"); - table.addPrimaryKey("qual"); - table.addColumn("count", "NA"); + table.addColumn("qual"); + table.addColumn("count"); for ( int q = 0; q < nObservationsPerQual.size(); q++ ) { + table.set(q, "qual", q); table.set(q, "count", nObservationsPerQual.get(q)); } } private final void addIntervalsToReport(final GATKReport report) { - report.addTable("QualQuantizerIntervals", "Table of QualQuantizer quantization intervals"); + report.addTable("QualQuantizerIntervals", "Table of QualQuantizer quantization intervals", 10); GATKReportTable table = report.getTable("QualQuantizerIntervals"); - table.addPrimaryKey("name"); - table.addColumn("qStart", "NA"); - table.addColumn("qEnd", "NA"); - table.addColumn("level", "NA"); - table.addColumn("merge.order", "NA"); - table.addColumn("nErrors", "NA"); - table.addColumn("nObservations", "NA"); - table.addColumn("qual", "NA"); - table.addColumn("penalty", "NA"); - table.addColumn("root.node", "NA"); + table.addColumn("name"); + table.addColumn("qStart"); + table.addColumn("qEnd"); + table.addColumn("level"); + table.addColumn("merge.order"); + table.addColumn("nErrors"); + table.addColumn("nObservations"); + table.addColumn("qual"); + table.addColumn("penalty"); + table.addColumn("root.node"); //table.addColumn("subintervals", "NA"); - for ( QualInterval interval : quantizedIntervals) + for ( QualInterval interval : quantizedIntervals ) addIntervalToReport(table, interval, true); } - private final void addIntervalToReport(final GATKReportTable table, QualInterval interval, final boolean atRootP) { + private final void addIntervalToReport(final GATKReportTable table, final QualInterval interval, final boolean atRootP) { final String name = interval.getName(); + table.set(name, "name", name); table.set(name, "qStart", interval.qStart); table.set(name, "qEnd", interval.qEnd); table.set(name, "level", interval.level); diff --git a/public/java/src/org/broadinstitute/sting/utils/recalibration/RecalibrationTables.java b/public/java/src/org/broadinstitute/sting/utils/recalibration/RecalibrationTables.java new file mode 100644 index 000000000..0416b5eb9 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/recalibration/RecalibrationTables.java @@ -0,0 +1,83 @@ +/* + * Copyright (c) 2012 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.recalibration; + +import org.broadinstitute.sting.gatk.walkers.bqsr.Covariate; +import org.broadinstitute.sting.gatk.walkers.bqsr.EventType; +import org.broadinstitute.sting.gatk.walkers.bqsr.RecalDatum; +import org.broadinstitute.sting.utils.collections.NestedIntegerArray; + +/** + * Utility class to facilitate on-the-fly base quality score recalibration. + * + * User: ebanks + * Date: 6/20/12 + */ + +public class RecalibrationTables { + + public enum TableType { + READ_GROUP_TABLE(0), + QUALITY_SCORE_TABLE(1), + OPTIONAL_COVARIATE_TABLES_START(2); + + public final int index; + + private TableType(final int index) { + this.index = index; + } + } + + private final NestedIntegerArray[] tables; + + public RecalibrationTables(final Covariate[] covariates) { + this(covariates, covariates[TableType.READ_GROUP_TABLE.index].maximumKeyValue() + 1); + } + + public RecalibrationTables(final Covariate[] covariates, final int numReadGroups) { + tables = new NestedIntegerArray[covariates.length]; + + final int qualDimension = covariates[TableType.QUALITY_SCORE_TABLE.index].maximumKeyValue() + 1; + final int eventDimension = EventType.values().length; + + tables[TableType.READ_GROUP_TABLE.index] = new NestedIntegerArray(numReadGroups, eventDimension); + tables[TableType.QUALITY_SCORE_TABLE.index] = new NestedIntegerArray(numReadGroups, qualDimension, eventDimension); + for (int i = TableType.OPTIONAL_COVARIATE_TABLES_START.index; i < covariates.length; i++) + tables[i] = new NestedIntegerArray(numReadGroups, qualDimension, covariates[i].maximumKeyValue()+1, eventDimension); + } + + public NestedIntegerArray getTable(final TableType type) { + return (NestedIntegerArray)tables[type.index]; + } + + public NestedIntegerArray getTable(final int index) { + return (NestedIntegerArray)tables[index]; + } + + public int numTables() { + return tables.length; + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/sam/AlignmentUtils.java b/public/java/src/org/broadinstitute/sting/utils/sam/AlignmentUtils.java index 998045a8b..e5e747c2d 100644 --- a/public/java/src/org/broadinstitute/sting/utils/sam/AlignmentUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/sam/AlignmentUtils.java @@ -342,6 +342,30 @@ public class AlignmentUtils { return n; } + public static int getNumAlignedBasesCountingSoftClips(final SAMRecord r) { + int n = 0; + final Cigar cigar = r.getCigar(); + if (cigar == null) return 0; + + for (final CigarElement e : cigar.getCigarElements()) + if (e.getOperator() == CigarOperator.M || e.getOperator() == CigarOperator.S) + n += e.getLength(); + + return n; + } + + public static int getNumHardClippedBases(final SAMRecord r) { + int n = 0; + final Cigar cigar = r.getCigar(); + if (cigar == null) return 0; + + for (final CigarElement e : cigar.getCigarElements()) + if (e.getOperator() == CigarOperator.H) + n += e.getLength(); + + return n; + } + public static byte[] alignmentToByteArray(final Cigar cigar, final byte[] read, final byte[] ref) { final byte[] alignment = new byte[read.length]; diff --git a/public/java/src/org/broadinstitute/sting/utils/sam/GATKSAMRecord.java b/public/java/src/org/broadinstitute/sting/utils/sam/GATKSAMRecord.java index 7d3477a7b..659615cf4 100755 --- a/public/java/src/org/broadinstitute/sting/utils/sam/GATKSAMRecord.java +++ b/public/java/src/org/broadinstitute/sting/utils/sam/GATKSAMRecord.java @@ -59,6 +59,8 @@ public class GATKSAMRecord extends BAMRecord { private String mReadString = null; private GATKSAMReadGroupRecord mReadGroup = null; private byte[] reducedReadCounts = null; + private int softStart = -1; + private int softEnd = -1; // because some values can be null, we don't want to duplicate effort private boolean retrievedReadGroup = false; @@ -171,10 +173,10 @@ public class GATKSAMRecord extends BAMRecord { setBaseQualities(quals); break; case BASE_INSERTION: - setAttribute( GATKSAMRecord.BQSR_BASE_INSERTION_QUALITIES, SAMUtils.phredToFastq(quals) ); + setAttribute( GATKSAMRecord.BQSR_BASE_INSERTION_QUALITIES, quals == null ? null : SAMUtils.phredToFastq(quals) ); break; case BASE_DELETION: - setAttribute( GATKSAMRecord.BQSR_BASE_DELETION_QUALITIES, SAMUtils.phredToFastq(quals) ); + setAttribute( GATKSAMRecord.BQSR_BASE_DELETION_QUALITIES, quals == null ? null : SAMUtils.phredToFastq(quals) ); break; default: throw new ReviewedStingException("Unrecognized Base Recalibration type: " + errorModel ); @@ -194,12 +196,35 @@ public class GATKSAMRecord extends BAMRecord { } } + /** + * @return whether or not this read has base insertion or deletion qualities (one of the two is sufficient to return true) + */ public boolean hasBaseIndelQualities() { return getAttribute( BQSR_BASE_INSERTION_QUALITIES ) != null || getAttribute( BQSR_BASE_DELETION_QUALITIES ) != null; } + /** + * @return the base deletion quality or null if read doesn't have one + */ + public byte[] getExistingBaseInsertionQualities() { + return SAMUtils.fastqToPhred( getStringAttribute(BQSR_BASE_INSERTION_QUALITIES)); + } + + /** + * @return the base deletion quality or null if read doesn't have one + */ + public byte[] getExistingBaseDeletionQualities() { + return SAMUtils.fastqToPhred( getStringAttribute(BQSR_BASE_DELETION_QUALITIES)); + } + + /** + * Default utility to query the base insertion quality of a read. If the read doesn't have one, it creates an array of default qualities (currently Q45) + * and assigns it to the read. + * + * @return the base insertion quality array + */ public byte[] getBaseInsertionQualities() { - byte[] quals = SAMUtils.fastqToPhred( getStringAttribute( BQSR_BASE_INSERTION_QUALITIES ) ); + byte [] quals = getExistingBaseInsertionQualities(); if( quals == null ) { quals = new byte[getBaseQualities().length]; Arrays.fill(quals, (byte) 45); // Some day in the future when base insertion and base deletion quals exist the samtools API will @@ -209,8 +234,14 @@ public class GATKSAMRecord extends BAMRecord { return quals; } + /** + * Default utility to query the base deletion quality of a read. If the read doesn't have one, it creates an array of default qualities (currently Q45) + * and assigns it to the read. + * + * @return the base deletion quality array + */ public byte[] getBaseDeletionQualities() { - byte[] quals = SAMUtils.fastqToPhred( getStringAttribute( BQSR_BASE_DELETION_QUALITIES ) ); + byte[] quals = getExistingBaseDeletionQualities(); if( quals == null ) { quals = new byte[getBaseQualities().length]; Arrays.fill(quals, (byte) 45); // Some day in the future when base insertion and base deletion quals exist the samtools API will @@ -336,9 +367,15 @@ public class GATKSAMRecord extends BAMRecord { * Clears all attributes except ReadGroup of the read. */ public GATKSAMRecord simplify () { - GATKSAMReadGroupRecord rg = getReadGroup(); - this.clearAttributes(); - setReadGroup(rg); + GATKSAMReadGroupRecord rg = getReadGroup(); // save the read group information + byte[] insQuals = (this.getAttribute(BQSR_BASE_INSERTION_QUALITIES) == null) ? null : getBaseInsertionQualities(); + byte[] delQuals = (this.getAttribute(BQSR_BASE_DELETION_QUALITIES) == null) ? null : getBaseDeletionQualities(); + this.clearAttributes(); // clear all attributes from the read + this.setReadGroup(rg); // restore read group + if (insQuals != null) + this.setBaseQualities(insQuals, EventType.BASE_INSERTION); // restore base insertion if we had any + if (delQuals != null) + this.setBaseQualities(delQuals, EventType.BASE_DELETION); // restore base deletion if we had any return this; } @@ -350,15 +387,17 @@ public class GATKSAMRecord extends BAMRecord { * @return the unclipped start of the read taking soft clips (but not hard clips) into account */ public int getSoftStart() { - int start = this.getUnclippedStart(); - for (CigarElement cigarElement : this.getCigar().getCigarElements()) { - if (cigarElement.getOperator() == CigarOperator.HARD_CLIP) - start += cigarElement.getLength(); - else - break; + if (softStart < 0) { + int start = this.getUnclippedStart(); + for (CigarElement cigarElement : this.getCigar().getCigarElements()) { + if (cigarElement.getOperator() == CigarOperator.HARD_CLIP) + start += cigarElement.getLength(); + else + break; + } + softStart = start; } - - return start; + return softStart; } /** @@ -369,23 +408,43 @@ public class GATKSAMRecord extends BAMRecord { * @return the unclipped end of the read taking soft clips (but not hard clips) into account */ public int getSoftEnd() { - int stop = this.getUnclippedStart(); + if (softEnd < 0) { + int stop = this.getUnclippedStart(); - if (ReadUtils.readIsEntirelyInsertion(this)) - return stop; + if (ReadUtils.readIsEntirelyInsertion(this)) + return stop; - int shift = 0; - CigarOperator lastOperator = null; - for (CigarElement cigarElement : this.getCigar().getCigarElements()) { - stop += shift; - lastOperator = cigarElement.getOperator(); - if (cigarElement.getOperator().consumesReferenceBases() || cigarElement.getOperator() == CigarOperator.SOFT_CLIP || cigarElement.getOperator() == CigarOperator.HARD_CLIP) - shift = cigarElement.getLength(); - else - shift = 0; + int shift = 0; + CigarOperator lastOperator = null; + for (CigarElement cigarElement : this.getCigar().getCigarElements()) { + stop += shift; + lastOperator = cigarElement.getOperator(); + if (cigarElement.getOperator().consumesReferenceBases() || cigarElement.getOperator() == CigarOperator.SOFT_CLIP || cigarElement.getOperator() == CigarOperator.HARD_CLIP) + shift = cigarElement.getLength(); + else + shift = 0; + } + softEnd = (lastOperator == CigarOperator.HARD_CLIP) ? stop-1 : stop+shift-1 ; } + return softEnd; + } - return (lastOperator == CigarOperator.HARD_CLIP) ? stop-1 : stop+shift-1 ; + /** + * If the read is hard clipped, the soft start and end will change. You can set manually or just reset the cache + * so that the next call to getSoftStart/End will recalculate it lazily. + */ + public void resetSoftStartAndEnd() { + softStart = -1; + softEnd = -1; + } + + /** + * If the read is hard clipped, the soft start and end will change. You can set manually or just reset the cache + * so that the next call to getSoftStart/End will recalculate it lazily. + */ + public void resetSoftStartAndEnd(int softStart, int softEnd) { + this.softStart = softStart; + this.softEnd = softEnd; } /** @@ -428,8 +487,8 @@ public class GATKSAMRecord extends BAMRecord { * Use this method if you want to create a new empty GATKSAMRecord based on * another GATKSAMRecord * - * @param read - * @return + * @param read a read to copy the header from + * @return a read with no bases but safe for the GATK */ public static GATKSAMRecord emptyRead(GATKSAMRecord read) { GATKSAMRecord emptyRead = new GATKSAMRecord(read.getHeader(), @@ -472,6 +531,7 @@ public class GATKSAMRecord extends BAMRecord { public Object clone() throws CloneNotSupportedException { final GATKSAMRecord clone = (GATKSAMRecord) super.clone(); if (temporaryAttributes != null) { + clone.temporaryAttributes = new HashMap(); for (Object attribute : temporaryAttributes.keySet()) clone.setTemporaryAttribute(attribute, temporaryAttributes.get(attribute)); } diff --git a/public/java/src/org/broadinstitute/sting/utils/sam/ReadUnclippedStartWithNoTiesComparator.java b/public/java/src/org/broadinstitute/sting/utils/sam/ReadUnclippedStartWithNoTiesComparator.java new file mode 100644 index 000000000..f961857e1 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/sam/ReadUnclippedStartWithNoTiesComparator.java @@ -0,0 +1,48 @@ +package org.broadinstitute.sting.utils.sam; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import net.sf.samtools.SAMRecord; + +import java.util.Comparator; + +public class ReadUnclippedStartWithNoTiesComparator implements Comparator { + @Requires("c1 >= 0 && c2 >= 0") + @Ensures("result == 0 || result == 1 || result == -1") + private int compareContigs(int c1, int c2) { + if (c1 == c2) + return 0; + else if (c1 > c2) + return 1; + return -1; + } + + @Requires("r1 != null && r2 != null") + @Ensures("result == 0 || result == 1 || result == -1") + public int compare(SAMRecord r1, SAMRecord r2) { + int result; + + if (r1 == r2) + result = 0; + + else if (r1.getReadUnmappedFlag()) + result = 1; + else if (r2.getReadUnmappedFlag()) + result = -1; + else { + final int cmpContig = compareContigs(r1.getReferenceIndex(), r2.getReferenceIndex()); + + if (cmpContig != 0) + result = cmpContig; + + else { + if (r1.getUnclippedStart() < r2.getUnclippedStart()) + result = -1; + else + result = 1; + } + } + + return result; + } +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java b/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java index 4e2fd1446..6b9ba79b4 100755 --- a/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java @@ -31,6 +31,7 @@ import net.sf.samtools.*; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.NGSPlatform; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; @@ -211,43 +212,55 @@ public class ReadUtils { } /** - * is the read a 454 read ? + * is the read a 454 read? * * @param read the read to test * @return checks the read group tag PL for the default 454 tag */ public static boolean is454Read(SAMRecord read) { - return isPlatformRead(read, "454"); + return NGSPlatform.fromRead(read) == NGSPlatform.LS454; } /** - * is the read a SOLiD read ? + * is the read an IonTorrent read? + * + * @param read the read to test + * @return checks the read group tag PL for the default ion tag + */ + public static boolean isIonRead(SAMRecord read) { + return NGSPlatform.fromRead(read) == NGSPlatform.ION_TORRENT; + } + + /** + * is the read a SOLiD read? * * @param read the read to test * @return checks the read group tag PL for the default SOLiD tag */ public static boolean isSOLiDRead(SAMRecord read) { - return isPlatformRead(read, "SOLID"); + return NGSPlatform.fromRead(read) == NGSPlatform.SOLID; } /** - * is the read a SLX read ? + * is the read a SLX read? * * @param read the read to test * @return checks the read group tag PL for the default SLX tag */ - public static boolean isSLXRead(SAMRecord read) { - return isPlatformRead(read, "ILLUMINA"); + public static boolean isIlluminaRead(SAMRecord read) { + return NGSPlatform.fromRead(read) == NGSPlatform.ILLUMINA; } /** - * checks if the read has a platform tag in the readgroup equal to 'name' ? + * checks if the read has a platform tag in the readgroup equal to 'name'. + * Assumes that 'name' is upper-cased. * * @param read the read to test - * @param name the platform name to test + * @param name the upper-cased platform name to test * @return whether or not name == PL tag in the read group of read */ public static boolean isPlatformRead(SAMRecord read, String name) { + SAMReadGroupRecord readGroup = read.getReadGroup(); if (readGroup != null) { Object readPlatformAttr = readGroup.getAttribute("PL"); @@ -507,7 +520,7 @@ public class ReadUtils { if (allowGoalNotReached) { return new Pair(CLIPPING_GOAL_NOT_REACHED, false); } else { - throw new ReviewedStingException("Somehow the requested coordinate is not covered by the read. Too many deletions?"); + throw new ReviewedStingException("Somehow the requested coordinate is not covered by the read. Alignment " + alignmentStart + " | " + cigar); } } @@ -553,7 +566,6 @@ public class ReadUtils { return true; } - /** * Checks if a read starts with an insertion. It looks beyond Hard and Soft clips * if there are any. diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/Allele.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/Allele.java index 52b4109fe..2e1770581 100755 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/Allele.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/Allele.java @@ -160,7 +160,7 @@ public class Allele implements Comparable { case 'G': case 'g' : return isRef ? REF_G : ALT_G; case 'T': case 't' : return isRef ? REF_T : ALT_T; case 'N': case 'n' : return isRef ? REF_N : ALT_N; - default: throw new IllegalArgumentException("Illegal base: " + (char)bases[0]); + default: throw new IllegalArgumentException("Illegal base [" + (char)bases[0] + "] seen in the allele"); } } else { return new Allele(bases, isRef); @@ -226,7 +226,11 @@ public class Allele implements Comparable { * @return true if the bases represent the well formatted allele */ public static boolean acceptableAlleleBases(String bases) { - return acceptableAlleleBases(bases.getBytes()); + return acceptableAlleleBases(bases.getBytes(), true); + } + + public static boolean acceptableAlleleBases(String bases, boolean allowNsAsAcceptable) { + return acceptableAlleleBases(bases.getBytes(), allowNsAsAcceptable); } /** @@ -234,13 +238,22 @@ public class Allele implements Comparable { * @return true if the bases represent the well formatted allele */ public static boolean acceptableAlleleBases(byte[] bases) { + return acceptableAlleleBases(bases, true); // default: N bases are acceptable + } + + public static boolean acceptableAlleleBases(byte[] bases, boolean allowNsAsAcceptable) { if ( wouldBeNullAllele(bases) || wouldBeNoCallAllele(bases) || wouldBeSymbolicAllele(bases) ) return true; - for ( int i = 0; i < bases.length; i++ ) { - switch (bases[i]) { - case 'A': case 'C': case 'G': case 'T': case 'N' : case 'a': case 'c': case 'g': case 't': case 'n' : + for (byte base : bases ) { + switch (base) { + case 'A': case 'C': case 'G': case 'T': case 'a': case 'c': case 'g': case 't': break; + case 'N' : case 'n' : + if (allowNsAsAcceptable) + break; + else + return false; default: return false; } @@ -323,7 +336,7 @@ public class Allele implements Comparable { * * @return the segregating bases */ - public String getBaseString() { return new String(getBases()); } + public String getBaseString() { return isNoCall() ? NO_CALL_STRING : new String(getBases()); } /** * Return the printed representation of this allele. @@ -334,6 +347,15 @@ public class Allele implements Comparable { */ public String getDisplayString() { return new String(bases); } + /** + * Same as #getDisplayString() but returns the result as byte[]. + * + * Slightly faster then getDisplayString() + * + * @return the allele string representation + */ + public byte[] getDisplayBases() { return bases; } + /** * @param other the other allele * diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/CommonInfo.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/CommonInfo.java index c0c9f36ce..fb0d7140d 100755 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/CommonInfo.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/CommonInfo.java @@ -226,12 +226,12 @@ final class CommonInfo { return Boolean.valueOf((String)x); // throws an exception if this isn't a string } -// public String getAttributeAsString(String key) { return (String.valueOf(getAttribute(key))); } // **NOTE**: will turn a null Object into the String "null" -// public int getAttributeAsInt(String key) { Object x = getAttribute(key); return x instanceof Integer ? (Integer)x : Integer.valueOf((String)x); } -// public double getAttributeAsDouble(String key) { Object x = getAttribute(key); return x instanceof Double ? (Double)x : Double.valueOf((String)x); } -// public boolean getAttributeAsBoolean(String key) { Object x = getAttribute(key); return x instanceof Boolean ? (Boolean)x : Boolean.valueOf((String)x); } +// public String getAttributeAsString(String key) { return (String.valueOf(getExtendedAttribute(key))); } // **NOTE**: will turn a null Object into the String "null" +// public int getAttributeAsInt(String key) { Object x = getExtendedAttribute(key); return x instanceof Integer ? (Integer)x : Integer.valueOf((String)x); } +// public double getAttributeAsDouble(String key) { Object x = getExtendedAttribute(key); return x instanceof Double ? (Double)x : Double.valueOf((String)x); } +// public boolean getAttributeAsBoolean(String key) { Object x = getExtendedAttribute(key); return x instanceof Boolean ? (Boolean)x : Boolean.valueOf((String)x); } // public Integer getAttributeAsIntegerNoException(String key) { try {return getAttributeAsInt(key);} catch (Exception e) {return null;} } // public Double getAttributeAsDoubleNoException(String key) { try {return getAttributeAsDouble(key);} catch (Exception e) {return null;} } -// public String getAttributeAsStringNoException(String key) { if (getAttribute(key) == null) return null; return getAttributeAsString(key); } +// public String getAttributeAsStringNoException(String key) { if (getExtendedAttribute(key) == null) return null; return getAttributeAsString(key); } // public Boolean getAttributeAsBooleanNoException(String key) { try {return getAttributeAsBoolean(key);} catch (Exception e) {return null;} } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/FastGenotype.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/FastGenotype.java new file mode 100755 index 000000000..d528bf0e4 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/FastGenotype.java @@ -0,0 +1,182 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext; + + +import com.google.java.contract.Requires; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; + +import java.util.*; + +/** + * This class encompasses all the basic information about a genotype. It is immutable. + * + * A genotype has several key fields + * + * -- a sample name, must be a non-null string + * + * -- an ordered list of alleles, intrepreted as the genotype of the sample, + * each allele for each chromosome given in order. If alleles = [a*, t] + * then the sample is a/t, with a (the reference from the *) the first + * chromosome and t on the second chromosome + * + * -- a isPhased marker indicting where the alleles are phased with respect to some global + * coordinate system. See VCF4.1 spec for a detailed discussion + * + * -- Inline, optimized ints and int[] values for: + * -- GQ: the phred-scaled genotype quality, of -1 if it's missing + * + * -- DP: the count of reads at this locus for this sample, of -1 if missing + * + * -- AD: an array of counts of reads at this locus, one for each Allele at the site. + * that is, for each allele in the surrounding VariantContext. Null if missing. + * + * -- PL: phred-scaled genotype likelihoods in standard VCF4.1 order for + * all combinations of the alleles in the surrounding VariantContext, given + * the ploidy of the sample (from the alleles vector). Null if missing. + * + * -- A general map from String keys to -> Object values for all other attributes in + * this genotype. Note that this map should not contain duplicate values for the + * standard bindings for GQ, DP, AD, and PL. Genotype filters can be put into + * this genotype, but it isn't respected by the GATK in analyses + * + * The only way to build a Genotype object is with a GenotypeBuilder, which permits values + * to be set in any order, which means that GenotypeBuilder may at some in the chain of + * sets pass through invalid states that are not permitted in a fully formed immutable + * Genotype. + * + * Note this is a simplified, refactored Genotype object based on the original + * generic (and slow) implementation from the original VariantContext + Genotype + * codebase. + * + * @author Mark DePristo + * @since 05/12 + */ +public final class FastGenotype extends Genotype { + private final List alleles; + private final boolean isPhased; + private final int GQ; + private final int DP; + private final int[] AD; + private final int[] PL; + private final Map extendedAttributes; + + /** + * The only way to make one of these, for use by GenotypeBuilder only + * + * @param sampleName + * @param alleles + * @param isPhased + * @param GQ + * @param DP + * @param AD + * @param PL + * @param extendedAttributes + */ + @Requires({ + "sampleName != null", + "alleles != null", + "GQ >= -1", + "DP >= -1", + "validADorPLField(AD)", + "validADorPLField(PL)", + "extendedAttributes != null", + "! hasForbiddenKey(extendedAttributes)"}) + protected FastGenotype(final String sampleName, + final List alleles, + final boolean isPhased, + final int GQ, + final int DP, + final int[] AD, + final int[] PL, + final String filters, + final Map extendedAttributes) { + super(sampleName, filters); + this.alleles = alleles; + this.isPhased = isPhased; + this.GQ = GQ; + this.DP = DP; + this.AD = AD; + this.PL = PL; + this.extendedAttributes = extendedAttributes; + } + + // --------------------------------------------------------------------------------------------------------- + // + // Implmenting the abstract methods + // + // --------------------------------------------------------------------------------------------------------- + + @Override public List getAlleles() { + return alleles; + } + + @Override public Allele getAllele(int i) { + return alleles.get(i); + } + + @Override public boolean isPhased() { + return isPhased; + } + + @Override public int getDP() { + return DP; + } + + @Override public int[] getAD() { + return AD; + } + + @Override public int getGQ() { + return GQ; + } + + @Override public int[] getPL() { + return PL; + } + + // --------------------------------------------------------------------------------------------------------- + // + // get routines for extended attributes + // + // --------------------------------------------------------------------------------------------------------- + + public Map getExtendedAttributes() { + return extendedAttributes; + } + + /** + * Is values a valid AD or PL field + * @param values + * @return + */ + private final static boolean validADorPLField(final int[] values) { + if ( values != null ) + for ( int v : values ) + if ( v < 0 ) + return false; + return true; + } +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/Genotype.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/Genotype.java index 747d83e6f..fae0a7c4c 100755 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/Genotype.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/Genotype.java @@ -1,6 +1,9 @@ package org.broadinstitute.sting.utils.variantcontext; +import com.google.java.contract.Ensures; +import com.google.java.contract.Invariant; +import com.google.java.contract.Requires; import org.broad.tribble.util.ParsingUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; @@ -12,134 +15,185 @@ import java.util.*; * * @author Mark DePristo */ -public class Genotype implements Comparable { +@Invariant({ + "getAlleles() != null", + "getSampleName() != null", + "getPloidy() >= 0", + "! hasForbiddenKey(getExtendedAttributes())"}) +public abstract class Genotype implements Comparable { + /** + * A list of genotype field keys corresponding to values we + * manage inline in the Genotype object. They must not appear in the + * extended attributes map + */ + public final static Collection PRIMARY_KEYS = Arrays.asList( + VCFConstants.GENOTYPE_FILTER_KEY, + VCFConstants.GENOTYPE_KEY, + VCFConstants.GENOTYPE_QUALITY_KEY, + VCFConstants.DEPTH_KEY, + VCFConstants.GENOTYPE_ALLELE_DEPTHS, + VCFConstants.GENOTYPE_PL_KEY); public final static String PHASED_ALLELE_SEPARATOR = "|"; public final static String UNPHASED_ALLELE_SEPARATOR = "/"; - protected CommonInfo commonInfo; - public final static double NO_LOG10_PERROR = CommonInfo.NO_LOG10_PERROR; - protected List alleles = null; // new ArrayList(); - protected Type type = null; + private final String sampleName; + private GenotypeType type = null; + private final String filters; - protected boolean isPhased = false; - - public Genotype(String sampleName, List alleles, double log10PError, Set filters, Map attributes, boolean isPhased) { - this(sampleName, alleles, log10PError, filters, attributes, isPhased, null); - } - - public Genotype(String sampleName, List alleles, double log10PError, Set filters, Map attributes, boolean isPhased, double[] log10Likelihoods) { - if ( alleles == null || alleles.isEmpty() ) - this.alleles = Collections.emptyList(); - else - this.alleles = Collections.unmodifiableList(alleles); - commonInfo = new CommonInfo(sampleName, log10PError, filters, attributes); - if ( log10Likelihoods != null ) - commonInfo.putAttribute(VCFConstants.PHRED_GENOTYPE_LIKELIHOODS_KEY, GenotypeLikelihoods.fromLog10Likelihoods(log10Likelihoods)); - this.isPhased = isPhased; - validate(); + protected Genotype(final String sampleName, final String filters) { + this.sampleName = sampleName; + this.filters = filters; } /** - * Creates a new Genotype for sampleName with genotype according to alleles. - * @param sampleName - * @param alleles - * @param log10PError the confidence in these alleles - * @param log10Likelihoods a log10 likelihoods for each of the genotype combinations possible for alleles, in the standard VCF ordering, or null if not known + * @return the alleles for this genotype. Cannot be null. May be empty */ - public Genotype(String sampleName, List alleles, double log10PError, double[] log10Likelihoods) { - this(sampleName, alleles, log10PError, null, null, false, log10Likelihoods); - } - - public Genotype(String sampleName, List alleles, double log10PError) { - this(sampleName, alleles, log10PError, null, null, false); - } - - public Genotype(String sampleName, List alleles) { - this(sampleName, alleles, NO_LOG10_PERROR, null, null, false); - } - - public Genotype(String sampleName, Genotype parent) { - this(sampleName, parent.getAlleles(), parent.getLog10PError(), parent.getFilters(), parent.getAttributes(), parent.isPhased()); - } - - - - // --------------------------------------------------------------------------------------------------------- - // - // Partial-cloning routines (because Genotype is immutable). - // - // --------------------------------------------------------------------------------------------------------- - - public static Genotype modifyName(Genotype g, String name) { - return new Genotype(name, g.getAlleles(), g.getLog10PError(), g.filtersWereApplied() ? g.getFilters() : null, g.getAttributes(), g.isPhased()); - } - - public static Genotype modifyAttributes(Genotype g, Map attributes) { - return new Genotype(g.getSampleName(), g.getAlleles(), g.getLog10PError(), g.filtersWereApplied() ? g.getFilters() : null, attributes, g.isPhased()); - } - - public static Genotype modifyAlleles(Genotype g, List alleles) { - return new Genotype(g.getSampleName(), alleles, g.getLog10PError(), g.filtersWereApplied() ? g.getFilters() : null, g.getAttributes(), g.isPhased()); - } + @Ensures("result != null") + public abstract List getAlleles(); /** - * @return the alleles for this genotype + * Returns how many times allele appears in this genotype object? + * + * @param allele + * @return a value >= 0 indicating how many times the allele occurred in this sample's genotype */ - public List getAlleles() { - return alleles; - } - - public List getAlleles(Allele allele) { - List al = new ArrayList(); - for ( Allele a : alleles ) + @Requires("allele != null") + @Ensures("result >= 0") + public int countAllele(final Allele allele) { + int c = 0; + for ( final Allele a : getAlleles() ) if ( a.equals(allele) ) - al.add(a); + c++; - return Collections.unmodifiableList(al); + return c; } - public Allele getAllele(int i) { - if ( getType() == Type.UNAVAILABLE ) - throw new ReviewedStingException("Requesting alleles for an UNAVAILABLE genotype"); - return alleles.get(i); - } - - public boolean isPhased() { return isPhased; } - /** - * @return the ploidy of this genotype + * Get the ith allele in this genotype + * + * @param i the ith allele, must be < the ploidy, starting with 0 + * @return the allele at position i, which cannot be null */ + @Requires({"i >=0 && i < getPloidy()", "getType() != GenotypeType.UNAVAILABLE"}) + @Ensures("result != null") + public abstract Allele getAllele(int i); + + /** + * Are the alleles phased w.r.t. the global phasing system? + * + * @return true if yes + */ + public abstract boolean isPhased(); + + /** + * What is the ploidy of this sample? + * + * @return the ploidy of this genotype. 0 if the site is no-called. + */ + @Ensures("result >= 0") public int getPloidy() { - if ( alleles.size() == 0 ) - throw new ReviewedStingException("Requesting ploidy for an UNAVAILABLE genotype"); - return alleles.size(); + return getAlleles().size(); } - public enum Type { - NO_CALL, - HOM_REF, - HET, - HOM_VAR, - UNAVAILABLE, - MIXED // no-call and call in the same genotype + /** + * @return the sequencing depth of this sample, or -1 if this value is missing + */ + @Ensures("result >= -1") + public abstract int getDP(); + + /** + * @return the count of reads, one for each allele in the surrounding Variant context, + * matching the corresponding allele, or null if this value is missing. MUST + * NOT BE MODIFIED! + */ + public abstract int[] getAD(); + + /** + * Returns the name associated with this sample. + * + * @return a non-null String + */ + @Ensures("result != null") + public String getSampleName() { + return sampleName; } - public Type getType() { + /** + * Returns a phred-scaled quality score, or -1 if none is available + * @return + */ + @Ensures("result >= -1") + public abstract int getGQ(); + + /** + * Does the PL field have a value? + * @return true if there's a PL field value + */ + @Ensures("(result == false && getPL() == null) || (result == true && getPL() != null)") + public boolean hasPL() { + return getPL() != null; + } + + /** + * Does the AD field have a value? + * @return true if there's a AD field value + */ + @Ensures("(result == false && getAD() == null) || (result == true && getAD() != null)") + public boolean hasAD() { + return getAD() != null; + } + + /** + * Does the GQ field have a value? + * @return true if there's a GQ field value + */ + @Ensures("(result == false && getGQ() == -1) || (result == true && getGQ() >= 0)") + public boolean hasGQ() { + return getGQ() != -1; + } + + /** + * Does the DP field have a value? + * @return true if there's a DP field value + */ + @Ensures("(result == false && getDP() == -1) || (result == true && getDP() >= 0)") + public boolean hasDP() { + return getDP() != -1; + } + + // --------------------------------------------------------------------------------------------------------- + // + // The type of this genotype + // + // --------------------------------------------------------------------------------------------------------- + + /** + * @return the high-level type of this sample's genotype + */ + @Ensures({"type != null", "result != null"}) + public GenotypeType getType() { if ( type == null ) { type = determineType(); } return type; } - protected Type determineType() { - if ( alleles.size() == 0 ) - return Type.UNAVAILABLE; + /** + * Internal code to determine the type of the genotype from the alleles vector + * @return the type + */ + @Requires("type == null") // we should never call if already calculated + protected GenotypeType determineType() { + // TODO -- this code is slow and could be optimized for the diploid case + final List alleles = getAlleles(); + if ( alleles.isEmpty() ) + return GenotypeType.UNAVAILABLE; boolean sawNoCall = false, sawMultipleAlleles = false; Allele observedAllele = null; - for ( Allele allele : alleles ) { + for ( final Allele allele : alleles ) { if ( allele.isNoCall() ) sawNoCall = true; else if ( observedAllele == null ) @@ -150,14 +204,14 @@ public class Genotype implements Comparable { if ( sawNoCall ) { if ( observedAllele == null ) - return Type.NO_CALL; - return Type.MIXED; + return GenotypeType.NO_CALL; + return GenotypeType.MIXED; } if ( observedAllele == null ) throw new ReviewedStingException("BUG: there are no alleles present in this genotype but the alleles list is not null"); - return sawMultipleAlleles ? Type.HET : observedAllele.isReference() ? Type.HOM_REF : Type.HOM_VAR; + return sawMultipleAlleles ? GenotypeType.HET : observedAllele.isReference() ? GenotypeType.HOM_REF : GenotypeType.HOM_VAR; } /** @@ -168,92 +222,108 @@ public class Genotype implements Comparable { /** * @return true if all observed alleles are ref; if any alleles are no-calls, this method will return false. */ - public boolean isHomRef() { return getType() == Type.HOM_REF; } + public boolean isHomRef() { return getType() == GenotypeType.HOM_REF; } /** * @return true if all observed alleles are alt; if any alleles are no-calls, this method will return false. */ - public boolean isHomVar() { return getType() == Type.HOM_VAR; } - + public boolean isHomVar() { return getType() == GenotypeType.HOM_VAR; } + /** * @return true if we're het (observed alleles differ); if the ploidy is less than 2 or if any alleles are no-calls, this method will return false. */ - public boolean isHet() { return getType() == Type.HET; } + public boolean isHet() { return getType() == GenotypeType.HET; } /** * @return true if this genotype is not actually a genotype but a "no call" (e.g. './.' in VCF); if any alleles are not no-calls (even if some are), this method will return false. */ - public boolean isNoCall() { return getType() == Type.NO_CALL; } + public boolean isNoCall() { return getType() == GenotypeType.NO_CALL; } /** * @return true if this genotype is comprised of any alleles that are not no-calls (even if some are). */ - public boolean isCalled() { return getType() != Type.NO_CALL && getType() != Type.UNAVAILABLE; } + public boolean isCalled() { return getType() != GenotypeType.NO_CALL && getType() != GenotypeType.UNAVAILABLE; } /** * @return true if this genotype is comprised of both calls and no-calls. */ - public boolean isMixed() { return getType() == Type.MIXED; } + public boolean isMixed() { return getType() == GenotypeType.MIXED; } /** * @return true if the type of this genotype is set. */ - public boolean isAvailable() { return getType() != Type.UNAVAILABLE; } + public boolean isAvailable() { return getType() != GenotypeType.UNAVAILABLE; } + // ------------------------------------------------------------------------------ // - // Useful methods for getting genotype likelihoods for a genotype object, if present + // methods for getting genotype likelihoods for a genotype object, if present // + // ------------------------------------------------------------------------------ + + /** + * @return Returns true if this Genotype has PL field values + */ + @Ensures("(result && getLikelihoods() != null) || (! result && getLikelihoods() == null)") public boolean hasLikelihoods() { - return (hasAttribute(VCFConstants.PHRED_GENOTYPE_LIKELIHOODS_KEY) && !getAttribute(VCFConstants.PHRED_GENOTYPE_LIKELIHOODS_KEY).equals(VCFConstants.MISSING_VALUE_v4)) || - (hasAttribute(VCFConstants.GENOTYPE_LIKELIHOODS_KEY) && !getAttribute(VCFConstants.GENOTYPE_LIKELIHOODS_KEY).equals(VCFConstants.MISSING_VALUE_v4)); + return getPL() != null; } - + + /** + * Convenience function that returns a string representation of the PL field of this + * genotype, or . if none is available. + * + * @return a non-null String representation for the PL of this sample + */ + @Ensures("result != null") + public String getLikelihoodsString() { + return hasLikelihoods() ? getLikelihoods().toString() : VCFConstants.MISSING_VALUE_v4; + } + + /** + * Returns the GenotypesLikelihoods data associated with this Genotype, or null if missing + * @return null or a GenotypesLikelihood object for this sample's PL field + */ + @Ensures("(hasLikelihoods() && result != null) || (! hasLikelihoods() && result == null)") public GenotypeLikelihoods getLikelihoods() { - GenotypeLikelihoods x = getLikelihoods(VCFConstants.PHRED_GENOTYPE_LIKELIHOODS_KEY, true); - if ( x != null ) - return x; - else { - x = getLikelihoods(VCFConstants.GENOTYPE_LIKELIHOODS_KEY, false); - if ( x != null ) return x; - else - throw new IllegalStateException("BUG: genotype likelihood field in " + this.getSampleName() + " sample are not either a string or a genotype likelihood class!"); - } + return hasLikelihoods() ? GenotypeLikelihoods.fromPLs(getPL()) : null; } - private GenotypeLikelihoods getLikelihoods(String key, boolean asPL) { - Object x = getAttribute(key); - if ( x instanceof String ) { - if ( asPL ) - return GenotypeLikelihoods.fromPLField((String)x); - else - return GenotypeLikelihoods.fromGLField((String)x); - } - else if ( x instanceof GenotypeLikelihoods ) return (GenotypeLikelihoods)x; - else return null; - } + /** + * Unsafe low-level accessor the PL field itself, may be null. + * + * @return a pointer to the underlying PL data. MUST NOT BE MODIFIED! + */ + public abstract int[] getPL(); - public void validate() { - if ( alleles.size() == 0) return; - - // int nNoCalls = 0; - for ( Allele allele : alleles ) { - if ( allele == null ) - throw new IllegalArgumentException("BUG: allele cannot be null in Genotype"); - // nNoCalls += allele.isNoCall() ? 1 : 0; - } - - // Technically, the spec does allow for the below case so this is not an illegal state - //if ( nNoCalls > 0 && nNoCalls != alleles.size() ) - // throw new IllegalArgumentException("BUG: alleles include some No Calls and some Calls, an illegal state " + this); - } + // --------------------------------------------------------------------------------------------------------- + // + // Many different string representations + // + // --------------------------------------------------------------------------------------------------------- + /** + * Return a VCF-like string representation for the alleles of this genotype. + * + * Does not append the reference * marker on the alleles. + * + * @return a string representing the genotypes, or null if the type is unavailable. + */ + @Ensures("result != null || ! isAvailable()") public String getGenotypeString() { return getGenotypeString(true); } + /** + * Return a VCF-like string representation for the alleles of this genotype. + * + * If ignoreRefState is true, will not append the reference * marker on the alleles. + * + * @return a string representing the genotypes, or null if the type is unavailable. + */ + @Ensures("result != null || ! isAvailable()") public String getGenotypeString(boolean ignoreRefState) { - if ( alleles.size() == 0 ) - return null; + if ( getPloidy() == 0 ) + return "NA"; // Notes: // 1. Make sure to use the appropriate separator depending on whether the genotype is phased @@ -263,29 +333,55 @@ public class Genotype implements Comparable { ignoreRefState ? getAlleleStrings() : (isPhased() ? getAlleles() : ParsingUtils.sortList(getAlleles()))); } - private List getAlleleStrings() { - List al = new ArrayList(); - for ( Allele a : alleles ) + /** + * Utility that returns a list of allele strings corresponding to the alleles in this sample + * @return + */ + protected List getAlleleStrings() { + final List al = new ArrayList(getPloidy()); + for ( Allele a : getAlleles() ) al.add(a.getBaseString()); return al; } public String toString() { - int Q = (int)Math.round(getPhredScaledQual()); - return String.format("[%s %s Q%s %s]", getSampleName(), getGenotypeString(false), - Q == -10 ? "." : String.format("%2d",Q), sortedString(getAttributes())); + return String.format("[%s %s%s%s%s%s%s%s]", + getSampleName(), + getGenotypeString(false), + toStringIfExists(VCFConstants.GENOTYPE_QUALITY_KEY, getGQ()), + toStringIfExists(VCFConstants.DEPTH_KEY, getDP()), + toStringIfExists(VCFConstants.GENOTYPE_ALLELE_DEPTHS, getAD()), + toStringIfExists(VCFConstants.GENOTYPE_PL_KEY, getPL()), + toStringIfExists(VCFConstants.GENOTYPE_FILTER_KEY, getFilters()), + sortedString(getExtendedAttributes())); } public String toBriefString() { - return String.format("%s:Q%.2f", getGenotypeString(false), getPhredScaledQual()); + return String.format("%s:Q%d", getGenotypeString(false), getGQ()); } - public boolean sameGenotype(Genotype other) { + // --------------------------------------------------------------------------------------------------------- + // + // Comparison operations + // + // --------------------------------------------------------------------------------------------------------- + + /** + * comparable genotypes -> compareTo on the sample names + * @param genotype + * @return + */ + @Override + public int compareTo(final Genotype genotype) { + return getSampleName().compareTo(genotype.getSampleName()); + } + + public boolean sameGenotype(final Genotype other) { return sameGenotype(other, true); } - public boolean sameGenotype(Genotype other, boolean ignorePhase) { + public boolean sameGenotype(final Genotype other, boolean ignorePhase) { if (getPloidy() != other.getPloidy()) return false; // gotta have the same number of allele to be equal @@ -301,6 +397,153 @@ public class Genotype implements Comparable { return thisAlleles.equals(otherAlleles); } + // --------------------------------------------------------------------------------------------------------- + // + // get routines for extended attributes + // + // --------------------------------------------------------------------------------------------------------- + + /** + * Returns the extended attributes for this object + * @return is never null, but is often isEmpty() + */ + @Ensures({"result != null", "! hasForbiddenKey(result)"}) + public abstract Map getExtendedAttributes(); + + /** + * Is key associated with a value (even a null one) in the extended attributes? + * + * Note this will not return true for the inline attributes DP, GQ, AD, or PL + * + * @param key a non-null string key to check for an association + * @return true if key has a value in the extendedAttributes + */ + @Requires({"key != null", "! isForbiddenKey(key)"}) + public boolean hasExtendedAttribute(final String key) { + return getExtendedAttributes().containsKey(key); + } + + /** + * Get the extended attribute value associated with key, if possible + * + * @param key a non-null string key to fetch a value for + * @param defaultValue the value to return if key isn't in the extended attributes + * @return a value (potentially) null associated with key, or defaultValue if no association exists + */ + @Requires({"key != null", "! isForbiddenKey(key)"}) + @Ensures("hasExtendedAttribute(key) || result == defaultValue") + public Object getExtendedAttribute(final String key, final Object defaultValue) { + return hasExtendedAttribute(key) ? getExtendedAttributes().get(key) : defaultValue; + } + + /** + * Same as #getExtendedAttribute with a null default + * + * @param key + * @return + */ + public Object getExtendedAttribute(final String key) { + return getExtendedAttribute(key, null); + } + + /** + * Returns the filter string associated with this Genotype. + * + * @return If this result == null, then the genotype is considered PASSing filters + * If the result != null, then the genotype has failed filtering for the reason(s) + * specified in result. To be reference compliant multiple filter field + * string values can be encoded with a ; separator. + */ + public final String getFilters() { + return filters; + } + + /** + * Is this genotype filtered or not? + * + * @return returns false if getFilters() == null + */ + @Ensures({"result != (getFilters() == null)"}) + public final boolean isFiltered() { + return getFilters() != null; + } + + @Deprecated public boolean hasLog10PError() { return hasGQ(); } + @Deprecated public double getLog10PError() { return getGQ() / -10.0; } + @Deprecated public int getPhredScaledQual() { return getGQ(); } + + @Deprecated + public String getAttributeAsString(String key, String defaultValue) { + Object x = getExtendedAttribute(key); + if ( x == null ) return defaultValue; + if ( x instanceof String ) return (String)x; + return String.valueOf(x); // throws an exception if this isn't a string + } + + @Deprecated + public int getAttributeAsInt(String key, int defaultValue) { + Object x = getExtendedAttribute(key); + if ( x == null || x == VCFConstants.MISSING_VALUE_v4 ) return defaultValue; + if ( x instanceof Integer ) return (Integer)x; + return Integer.valueOf((String)x); // throws an exception if this isn't a string + } + + @Deprecated + public double getAttributeAsDouble(String key, double defaultValue) { + Object x = getExtendedAttribute(key); + if ( x == null ) return defaultValue; + if ( x instanceof Double ) return (Double)x; + return Double.valueOf((String)x); // throws an exception if this isn't a string + } + + /** + * A totally generic getter, that allows you to specific keys that correspond + * to even inline values (GQ, for example). Can be very expensive. Additionally, + * all int[] are converted inline into List for convenience. + * + * @param key + * @return + */ + public Object getAnyAttribute(final String key) { + if (key.equals(VCFConstants.GENOTYPE_KEY)) { + return getAlleles(); + } else if (key.equals(VCFConstants.GENOTYPE_QUALITY_KEY)) { + return getGQ(); + } else if (key.equals(VCFConstants.GENOTYPE_ALLELE_DEPTHS)) { + return Arrays.asList(getAD()); + } else if (key.equals(VCFConstants.GENOTYPE_PL_KEY)) { + return Arrays.asList(getPL()); + } else if (key.equals(VCFConstants.DEPTH_KEY)) { + return getDP(); + } else { + return getExtendedAttribute(key); + } + } + + public boolean hasAnyAttribute(final String key) { + if (key.equals(VCFConstants.GENOTYPE_KEY)) { + return isAvailable(); + } else if (key.equals(VCFConstants.GENOTYPE_QUALITY_KEY)) { + return hasGQ(); + } else if (key.equals(VCFConstants.GENOTYPE_ALLELE_DEPTHS)) { + return hasAD(); + } else if (key.equals(VCFConstants.GENOTYPE_PL_KEY)) { + return hasPL(); + } else if (key.equals(VCFConstants.DEPTH_KEY)) { + return hasDP(); + } else { + return hasExtendedAttribute(key); + } + } + + // TODO -- add getAttributesAsX interface here + + // ------------------------------------------------------------------------------ + // + // private utilities + // + // ------------------------------------------------------------------------------ + /** * a utility method for generating sorted strings from a map key set. * @param c the map @@ -308,55 +551,80 @@ public class Genotype implements Comparable { * @param the value type * @return a sting, enclosed in {}, with comma seperated key value pairs in order of the keys */ - private static , V> String sortedString(Map c) { + @Requires("c != null") + protected static , V> String sortedString(Map c) { + // NOTE -- THIS IS COPIED FROM GATK UTILS TO ALLOW US TO KEEP A SEPARATION BETWEEN THE GATK AND VCF CODECS - List t = new ArrayList(c.keySet()); + final List t = new ArrayList(c.keySet()); Collections.sort(t); - List pairs = new ArrayList(); - for (T k : t) { + final List pairs = new ArrayList(); + for (final T k : t) { pairs.add(k + "=" + c.get(k)); } - return "{" + ParsingUtils.join(", ", pairs.toArray(new String[pairs.size()])) + "}"; + return pairs.isEmpty() ? "" : " {" + ParsingUtils.join(", ", pairs.toArray(new String[pairs.size()])) + "}"; } - - // --------------------------------------------------------------------------------------------------------- - // - // get routines to access context info fields - // - // --------------------------------------------------------------------------------------------------------- - public String getSampleName() { return commonInfo.getName(); } - public Set getFilters() { return commonInfo.getFilters(); } - public Set getFiltersMaybeNull() { return commonInfo.getFiltersMaybeNull(); } - public boolean isFiltered() { return commonInfo.isFiltered(); } - public boolean isNotFiltered() { return commonInfo.isNotFiltered(); } - public boolean filtersWereApplied() { return commonInfo.filtersWereApplied(); } - public boolean hasLog10PError() { return commonInfo.hasLog10PError(); } - public double getLog10PError() { return commonInfo.getLog10PError(); } - public double getPhredScaledQual() { return commonInfo.getPhredScaledQual(); } - - public Map getAttributes() { return commonInfo.getAttributes(); } - public boolean hasAttribute(String key) { return commonInfo.hasAttribute(key); } - public Object getAttribute(String key) { return commonInfo.getAttribute(key); } - - public Object getAttribute(String key, Object defaultValue) { - return commonInfo.getAttribute(key, defaultValue); - } - - public String getAttributeAsString(String key, String defaultValue) { return commonInfo.getAttributeAsString(key, defaultValue); } - public int getAttributeAsInt(String key, int defaultValue) { return commonInfo.getAttributeAsInt(key, defaultValue); } - public double getAttributeAsDouble(String key, double defaultValue) { return commonInfo.getAttributeAsDouble(key, defaultValue); } - public boolean getAttributeAsBoolean(String key, boolean defaultValue) { return commonInfo.getAttributeAsBoolean(key, defaultValue); } - /** - * comparable genotypes -> compareTo on the sample names - * @param genotype + * Returns a display name for field name with value v if this isn't -1. Otherwise returns "" + * @param name of the field ("AD") + * @param v the value of the field, or -1 if missing + * @return a non-null string for display if the field is not missing + */ + @Requires("name != null") + @Ensures("result != null") + protected final static String toStringIfExists(final String name, final int v) { + return v == -1 ? "" : " " + name + " " + v; + } + + /** + * Returns a display name for field name with String value v if this isn't null. Otherwise returns "" + * @param name of the field ("FT") + * @param v the value of the field, or null if missing + * @return a non-null string for display if the field is not missing + */ + protected final static String toStringIfExists(final String name, final String v) { + return v == null ? "" : " " + name + " " + v; + } + + /** + * Returns a display name for field name with values vs if this isn't null. Otherwise returns "" + * @param name of the field ("AD") + * @param vs the value of the field, or null if missing + * @return a non-null string for display if the field is not missing + */ + @Requires("name != null") + @Ensures("result != null") + protected final static String toStringIfExists(final String name, final int[] vs) { + if ( vs == null ) + return ""; + else { + StringBuilder b = new StringBuilder(); + b.append(" ").append(name).append(" "); + for ( int i = 0; i < vs.length; i++ ) { + if ( i != 0 ) b.append(","); + b.append(vs[i]); + } + return b.toString(); + } + } + + /** + * Does the attribute map have a mapping involving a forbidden key (i.e., + * one that's managed inline by this Genotypes object? + * + * @param attributes the extended attributes key * @return */ - @Override - public int compareTo(final Genotype genotype) { - return getSampleName().compareTo(genotype.getSampleName()); + protected final static boolean hasForbiddenKey(final Map attributes) { + for ( final String forbidden : PRIMARY_KEYS) + if ( attributes.containsKey(forbidden) ) + return true; + return false; + } + + protected final static boolean isForbiddenKey(final String key) { + return PRIMARY_KEYS.contains(key); } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypeBuilder.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypeBuilder.java new file mode 100755 index 000000000..e3bef6bc5 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypeBuilder.java @@ -0,0 +1,426 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext; + + +import com.google.java.contract.Ensures; +import com.google.java.contract.Invariant; +import com.google.java.contract.Requires; +import org.broad.tribble.util.ParsingUtils; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; + +import java.util.*; + +/** + * A builder class for genotypes + * + * Provides convenience setter methods for all of the Genotype field + * values. Setter methods can be used in any order, allowing you to + * pass through states that wouldn't be allowed in the highly regulated + * immutable Genotype class. + * + * All fields default to meaningful MISSING values. + * + * Call make() to actually create the corresponding Genotype object from + * this builder. Can be called multiple times to create independent copies, + * or with intervening sets to conveniently make similar Genotypes with + * slight modifications. + * + * @author Mark DePristo + * @since 06/12 + */ +@Invariant({"alleles != null"}) +public final class GenotypeBuilder { + public static boolean MAKE_FAST_BY_DEFAULT = true; + + private String sampleName = null; + private List alleles = Collections.emptyList(); + + private boolean isPhased = false; + private int GQ = -1; + private int DP = -1; + private int[] AD = null; + private int[] PL = null; + private Map extendedAttributes = null; + private String filters = null; + private int initialAttributeMapSize = 5; + + private boolean useFast = MAKE_FAST_BY_DEFAULT; + + private final static Map NO_ATTRIBUTES = + Collections.unmodifiableMap(new HashMap(0)); + + // ----------------------------------------------------------------- + // + // Factory methods + // + // ----------------------------------------------------------------- + + public final static Genotype create(final String sampleName, final List alleles) { + return new GenotypeBuilder(sampleName, alleles).make(); + } + + public final static Genotype create(final String sampleName, + final List alleles, + final Map attributes) { + return new GenotypeBuilder(sampleName, alleles).attributes(attributes).make(); + } + + protected final static Genotype create(final String sampleName, + final List alleles, + final double[] gls) { + return new GenotypeBuilder(sampleName, alleles).PL(gls).make(); + } + + public final static Genotype create(final String sampleName, + final List alleles, + final double log10Perror, + final Map attributes) { + return new GenotypeBuilder(sampleName, alleles) + .GQ(log10Perror == SlowGenotype.NO_LOG10_PERROR ? -1 : (int)(log10Perror * -10)) + .attributes(attributes).make(); + } + + /** + * Create a empty builder. Both a sampleName and alleles must be provided + * before trying to make a Genotype from this builder. + */ + public GenotypeBuilder() {} + + /** + * Create a builder using sampleName. Alleles must be provided + * before trying to make a Genotype from this builder. + * @param sampleName + */ + public GenotypeBuilder(final String sampleName) { + name(sampleName); + } + + /** + * Make a builder using sampleName and alleles for starting values + * @param sampleName + * @param alleles + */ + public GenotypeBuilder(final String sampleName, final List alleles) { + name(sampleName); + alleles(alleles); + } + + /** + * Create a new builder starting with the values in Genotype g + * @param g + */ + public GenotypeBuilder(final Genotype g) { + copy(g); + } + + /** + * Copy all of the values for this builder from Genotype g + * @param g + * @return + */ + public GenotypeBuilder copy(final Genotype g) { + name(g.getSampleName()); + alleles(g.getAlleles()); + phased(g.isPhased()); + GQ(g.getGQ()); + DP(g.getDP()); + AD(g.getAD()); + PL(g.getPL()); + filter(g.getFilters()); + attributes(g.getExtendedAttributes()); + return this; + } + + /** + * Reset all of the builder attributes to their defaults. After this + * function you must provide sampleName and alleles before trying to + * make more Genotypes. + */ + public final void reset(final boolean keepSampleName) { + if ( ! keepSampleName ) sampleName = null; + alleles = Collections.emptyList(); + isPhased = false; + GQ = -1; + DP = -1; + AD = null; + PL = null; + filters = null; + extendedAttributes = null; + } + + /** + * Create a new Genotype object using the values set in this builder. + * + * After creation the values in this builder can be modified and more Genotypes + * created, althrough the contents of array values like PL should never be modified + * inline as they are not copied for efficiency reasons. + * + * @return a newly minted Genotype object with values provided from this builder + */ + @Ensures({"result != null"}) + public Genotype make() { + if ( useFast ) { + final Map ea = extendedAttributes == null ? NO_ATTRIBUTES : extendedAttributes; + return new FastGenotype(sampleName, alleles, isPhased, GQ, DP, AD, PL, filters, ea); + } else { + final Map attributes = new LinkedHashMap(); + if ( extendedAttributes != null ) attributes.putAll(extendedAttributes); + final double log10PError = GQ == -1 ? SlowGenotype.NO_LOG10_PERROR : (GQ == 0 ? 0 : GQ / -10.0); + if ( DP != -1 ) attributes.put(VCFConstants.DEPTH_KEY, DP); + if ( AD != null ) attributes.put(VCFConstants.GENOTYPE_ALLELE_DEPTHS, AD); + final double[] log10likelihoods = PL != null ? GenotypeLikelihoods.fromPLs(PL).getAsVector() : null; + return new SlowGenotype(sampleName, alleles, log10PError, filters, attributes, isPhased, log10likelihoods); + } + } + + public GenotypeBuilder useFast(boolean useFast) { + this.useFast = useFast; + return this; + } + + /** + * Set this genotype's name + * @param sampleName + * @return + */ + @Requires({"sampleName != null"}) + @Ensures({"this.sampleName != null"}) + public GenotypeBuilder name(final String sampleName) { + this.sampleName = sampleName; + return this; + } + + /** + * Set this genotype's alleles + * @param alleles + * @return + */ + @Ensures({"this.alleles != null"}) + public GenotypeBuilder alleles(final List alleles) { + if ( alleles == null ) + this.alleles = Collections.emptyList(); + else + this.alleles = alleles; + return this; + } + + /** + * Is this genotype phased? + * @param phased + * @return + */ + public GenotypeBuilder phased(final boolean phased) { + isPhased = phased; + return this; + } + + @Requires({"GQ >= -1"}) + @Ensures({"this.GQ == GQ", "this.GQ >= -1"}) + public GenotypeBuilder GQ(final int GQ) { + this.GQ = GQ; + return this; + } + + /** + * Adaptor interface from the pLog10Error system. + * + * Will be retired when + * + * @param pLog10Error + * @return + */ + @Deprecated + public GenotypeBuilder log10PError(final double pLog10Error) { + if ( pLog10Error == CommonInfo.NO_LOG10_PERROR ) + return GQ(-1); + else + return GQ((int)Math.round(pLog10Error * -10)); + } + + /** + * This genotype has no GQ value + * @return + */ + public GenotypeBuilder noGQ() { GQ = -1; return this; } + + /** + * This genotype has no AD value + * @return + */ + public GenotypeBuilder noAD() { AD = null; return this; } + + /** + * This genotype has no DP value + * @return + */ + public GenotypeBuilder noDP() { DP = -1; return this; } + + /** + * This genotype has no PL value + * @return + */ + public GenotypeBuilder noPL() { PL = null; return this; } + + /** + * This genotype has this DP value + * @return + */ + @Requires({"DP >= -1"}) + @Ensures({"this.DP == DP"}) + public GenotypeBuilder DP(final int DP) { + this.DP = DP; + return this; + } + + /** + * This genotype has this AD value + * @return + */ + @Requires({"AD == null || AD.length > 0"}) + @Ensures({"this.AD == AD"}) + public GenotypeBuilder AD(final int[] AD) { + this.AD = AD; + return this; + } + + /** + * This genotype has this PL value, as int[]. FAST + * @return + */ + @Requires("PL == null || PL.length > 0") + @Ensures({"this.PL == PL"}) + public GenotypeBuilder PL(final int[] PL) { + this.PL = PL; + return this; + } + + /** + * This genotype has this PL value, converted from double[]. SLOW + * @return + */ + @Requires("PL == null || PL.length > 0") + @Ensures({"this.PL == PL"}) + public GenotypeBuilder PL(final double[] GLs) { + this.PL = GenotypeLikelihoods.fromLog10Likelihoods(GLs).getAsPLs(); + return this; + } + + /** + * This genotype has these attributes. + * + * Cannot contain inline attributes (DP, AD, GQ, PL) + * @return + */ + @Requires("attributes != null") + @Ensures("attributes.isEmpty() || extendedAttributes != null") + public GenotypeBuilder attributes(final Map attributes) { + for ( Map.Entry pair : attributes.entrySet() ) + attribute(pair.getKey(), pair.getValue()); + return this; + } + + /** + * Tells this builder to remove all extended attributes + * + * @return + */ + public GenotypeBuilder noAttributes() { + this.extendedAttributes = null; + return this; + } + + /** + * This genotype has this attribute key / value pair. + * + * Cannot contain inline attributes (DP, AD, GQ, PL) + * @return + */ + @Requires({"key != null"}) + @Ensures({"extendedAttributes != null", "extendedAttributes.containsKey(key)"}) + public GenotypeBuilder attribute(final String key, final Object value) { + if ( extendedAttributes == null ) + extendedAttributes = new HashMap(initialAttributeMapSize); + extendedAttributes.put(key, value); + return this; + } + + /** + * Tells this builder to make a Genotype object that has had filters applied, + * which may be empty (passes) or have some value indicating the reasons + * why it's been filtered. + * + * @param filters non-null list of filters. empty list => PASS + * @return this builder + */ + @Requires("filters != null") + public GenotypeBuilder filters(final List filters) { + if ( filters.isEmpty() ) + return filter(null); + else if ( filters.size() == 1 ) + return filter(filters.get(0)); + else + return filter(ParsingUtils.join(";", ParsingUtils.sortList(filters))); + } + + /** + * varargs version of #filters + * @param filters + * @return + */ + @Requires("filters != null") + public GenotypeBuilder filters(final String ... filters) { + return filters(Arrays.asList(filters)); + } + + /** + * Most efficient version of setting filters -- just set the filters string to filters + * + * @param filter if filters == null or filters.equals("PASS") => genotype is PASS + * @return + */ + public GenotypeBuilder filter(final String filter) { + this.filters = VCFConstants.PASSES_FILTERS_v4.equals(filter) ? null : filter; + return this; + } + + /** + * This genotype is unfiltered + * + * @return + */ + public GenotypeBuilder unfiltered() { + return filter(null); + } + + /** + * Tell's this builder that we have at most these number of attributes + * @return + */ + public GenotypeBuilder maxAttributes(final int i) { + initialAttributeMapSize = i; + return this; + } +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypeLikelihoods.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypeLikelihoods.java index 3bebac4fa..d644eda7d 100755 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypeLikelihoods.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypeLikelihoods.java @@ -24,17 +24,24 @@ package org.broadinstitute.sting.utils.variantcontext; +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; import org.broad.tribble.TribbleException; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; +import java.util.Arrays; import java.util.EnumMap; public class GenotypeLikelihoods { - public static final boolean CAP_PLS = false; - public static final int PL_CAP = 255; + private final static int NUM_LIKELIHOODS_CACHE_N_ALLELES = 5; + private final static int NUM_LIKELIHOODS_CACHE_PLOIDY = 10; + // caching numAlleles up to 5 and ploidy up to 10 + private final static int[][] numLikelihoodCache = new int[NUM_LIKELIHOODS_CACHE_N_ALLELES][NUM_LIKELIHOODS_CACHE_PLOIDY]; + + public final static int MAX_PL = Short.MAX_VALUE; // // There are two objects here because we are lazy in creating both representations @@ -44,10 +51,34 @@ public class GenotypeLikelihoods { private double[] log10Likelihoods = null; private String likelihoodsAsString_PLs = null; + + /** + * initialize num likelihoods cache + */ + static { + // must be done before PLIndexToAlleleIndex + for ( int numAlleles = 1; numAlleles < NUM_LIKELIHOODS_CACHE_N_ALLELES; numAlleles++ ) { + for ( int ploidy = 1; ploidy < NUM_LIKELIHOODS_CACHE_PLOIDY; ploidy++ ) { + numLikelihoodCache[numAlleles][ploidy] = calcNumLikelihoods(numAlleles, ploidy); + } + } + } + + /** + * The maximum number of alleles that we can represent as genotype likelihoods + */ + public final static int MAX_ALT_ALLELES_THAT_CAN_BE_GENOTYPED = 50; + + /* + * a cache of the PL index to the 2 alleles it represents over all possible numbers of alternate alleles + */ + private final static GenotypeLikelihoodsAllelePair[] PLIndexToAlleleIndex = calculatePLcache(MAX_ALT_ALLELES_THAT_CAN_BE_GENOTYPED); + public final static GenotypeLikelihoods fromPLField(String PLs) { return new GenotypeLikelihoods(PLs); } + @Deprecated public final static GenotypeLikelihoods fromGLField(String GLs) { return new GenotypeLikelihoods(parseDeprecatedGLString(GLs)); } @@ -56,14 +87,18 @@ public class GenotypeLikelihoods { return new GenotypeLikelihoods(log10Likelihoods); } + public final static GenotypeLikelihoods fromPLs(final int[] pls) { + return new GenotypeLikelihoods(PLsToGLs(pls)); + } + // // You must use the factory methods now // - protected GenotypeLikelihoods(String asString) { + private GenotypeLikelihoods(String asString) { likelihoodsAsString_PLs = asString; } - protected GenotypeLikelihoods(double[] asVector) { + private GenotypeLikelihoods(double[] asVector) { log10Likelihoods = asVector; } @@ -84,6 +119,11 @@ public class GenotypeLikelihoods { return log10Likelihoods; } + public int[] getAsPLs() { + final double[] GLs = getAsVector(); + return GLs == null ? null : GLsToPLs(GLs); + } + public String toString() { return getAsString(); } @@ -99,27 +139,39 @@ public class GenotypeLikelihoods { return likelihoodsAsString_PLs; } + @Override public boolean equals(Object aThat) { + //check for self-comparison + if ( this == aThat ) return true; + + if ( !(aThat instanceof GenotypeLikelihoods) ) return false; + GenotypeLikelihoods that = (GenotypeLikelihoods)aThat; + + // now a proper field-by-field evaluation can be made. + // GLs are considered equal if the corresponding PLs are equal + return Arrays.equals(getAsPLs(), that.getAsPLs()); + } + //Return genotype likelihoods as an EnumMap with Genotypes as keys and likelihoods as values //Returns null in case of missing likelihoods - public EnumMap getAsMap(boolean normalizeFromLog10){ + public EnumMap getAsMap(boolean normalizeFromLog10){ //Make sure that the log10likelihoods are set double[] likelihoods = normalizeFromLog10 ? MathUtils.normalizeFromLog10(getAsVector()) : getAsVector(); if(likelihoods == null) return null; - EnumMap likelihoodsMap = new EnumMap(Genotype.Type.class); - likelihoodsMap.put(Genotype.Type.HOM_REF,likelihoods[Genotype.Type.HOM_REF.ordinal()-1]); - likelihoodsMap.put(Genotype.Type.HET,likelihoods[Genotype.Type.HET.ordinal()-1]); - likelihoodsMap.put(Genotype.Type.HOM_VAR, likelihoods[Genotype.Type.HOM_VAR.ordinal() - 1]); + EnumMap likelihoodsMap = new EnumMap(GenotypeType.class); + likelihoodsMap.put(GenotypeType.HOM_REF,likelihoods[GenotypeType.HOM_REF.ordinal()-1]); + likelihoodsMap.put(GenotypeType.HET,likelihoods[GenotypeType.HET.ordinal()-1]); + likelihoodsMap.put(GenotypeType.HOM_VAR, likelihoods[GenotypeType.HOM_VAR.ordinal() - 1]); return likelihoodsMap; } //Return the neg log10 Genotype Quality (GQ) for the given genotype //Returns Double.NEGATIVE_INFINITY in case of missing genotype - public double getLog10GQ(Genotype.Type genotype){ - return getQualFromLikelihoods(genotype.ordinal() - 1 /* NO_CALL IS FIRST */, getAsVector()); + public double getLog10GQ(GenotypeType genotype){ + return getGQLog10FromLikelihoods(genotype.ordinal() - 1 /* NO_CALL IS FIRST */, getAsVector()); } - public static double getQualFromLikelihoods(int iOfChoosenGenotype, double[] likelihoods){ + public static double getGQLog10FromLikelihoods(int iOfChoosenGenotype, double[] likelihoods){ if(likelihoods == null) return Double.NEGATIVE_INFINITY; @@ -180,31 +232,48 @@ public class GenotypeLikelihoods { return null; } - private final static String convertLikelihoodsToPLString(double[] GLs) { + private final static String convertLikelihoodsToPLString(final double[] GLs) { if ( GLs == null ) return VCFConstants.MISSING_VALUE_v4; - StringBuilder s = new StringBuilder(); - - double adjust = Double.NEGATIVE_INFINITY; - for ( double l : GLs ) adjust = Math.max(adjust, l); - + final StringBuilder s = new StringBuilder(); boolean first = true; - for ( double l : GLs ) { + for ( final int pl : GLsToPLs(GLs) ) { if ( ! first ) s.append(","); else first = false; - long PL = Math.round(-10 * (l - adjust)); - if ( CAP_PLS ) - PL = Math.min(PL, PL_CAP); - s.append(Long.toString(PL)); + s.append(pl); } return s.toString(); } + private final static int[] GLsToPLs(final double[] GLs) { + final int[] pls = new int[GLs.length]; + final double adjust = maxPL(GLs); + + for ( int i = 0; i < GLs.length; i++ ) { + pls[i] = (int)Math.round(Math.min(-10 * (GLs[i] - adjust), MAX_PL)); + } + + return pls; + } + + private final static double maxPL(final double[] GLs) { + double adjust = Double.NEGATIVE_INFINITY; + for ( double l : GLs ) adjust = Math.max(adjust, l); + return adjust; + } + + private final static double[] PLsToGLs(final int pls[]) { + double[] likelihoodsAsVector = new double[pls.length]; + for ( int i = 0; i < pls.length; i++ ) { + likelihoodsAsVector[i] = pls[i] / -10.0; + } + return likelihoodsAsVector; + } // ------------------------------------------------------------------------------------- // @@ -213,9 +282,9 @@ public class GenotypeLikelihoods { // ------------------------------------------------------------------------------------- /* - * Class representing the 2 alleles (or rather their indexes into VariantContext.getAllele()) corresponding to a specific PL index. - * Note that the reference allele is always index=0. - */ + * Class representing the 2 alleles (or rather their indexes into VariantContext.getAllele()) corresponding to a specific PL index. + * Note that the reference allele is always index=0. + */ public static class GenotypeLikelihoodsAllelePair { public final int alleleIndex1, alleleIndex2; @@ -225,18 +294,8 @@ public class GenotypeLikelihoods { } } - /** - * The maximum number of alleles that we can represent as genotype likelihoods - */ - public final static int MAX_ALT_ALLELES_THAT_CAN_BE_GENOTYPED = 50; - - /* - * a cache of the PL index to the 2 alleles it represents over all possible numbers of alternate alleles - */ - private final static GenotypeLikelihoodsAllelePair[] PLIndexToAlleleIndex = calculatePLcache(MAX_ALT_ALLELES_THAT_CAN_BE_GENOTYPED); - private static GenotypeLikelihoodsAllelePair[] calculatePLcache(final int altAlleles) { - final int numLikelihoods = calculateNumLikelihoods(1+altAlleles, 2); + final int numLikelihoods = numLikelihoods(1 + altAlleles, 2); final GenotypeLikelihoodsAllelePair[] cache = new GenotypeLikelihoodsAllelePair[numLikelihoods]; // for all possible combinations of 2 alleles @@ -251,53 +310,73 @@ public class GenotypeLikelihoods { if ( cache[i] == null ) throw new ReviewedStingException("BUG: cache entry " + i + " is unexpected null"); } - + return cache; } + // ------------------------------------------------------------------------------------- + // + // num likelihoods given number of alleles and ploidy + // + // ------------------------------------------------------------------------------------- + /** - * Compute how many likelihood elements are associated with the given number of alleles - * Equivalent to asking in how many ways N non-negative integers can add up to P is S(N,P) - * where P = ploidy (number of chromosomes) and N = total # of alleles. - * Each chromosome can be in one single state (0,...,N-1) and there are P of them. - * Naive solution would be to store N*P likelihoods, but this is not necessary because we can't distinguish chromosome states, but rather - * only total number of alt allele counts in all chromosomes. - * - * For example, S(3,2) = 6: For alleles A,B,C, on a diploid organism we have six possible genotypes: - * AA,AB,BB,AC,BC,CC. - * Another way of expressing is with vector (#of A alleles, # of B alleles, # of C alleles) - * which is then, for ordering above, (2,0,0), (1,1,0), (0,2,0), (1,1,0), (0,1,1), (0,0,2) - * In general, for P=2 (regular biallelic), then S(N,2) = N*(N+1)/2 - * - * Recursive implementation: - * S(N,P) = sum_{k=0}^P S(N-1,P-k) - * because if we have N integers, we can condition 1 integer to be = k, and then N-1 integers have to sum to P-K - * With initial conditions - * S(N,1) = N (only way to have N integers add up to 1 is all-zeros except one element with a one. There are N of these vectors) - * S(1,P) = 1 (only way to have 1 integer add to P is with that integer P itself). - * - * @param numAlleles Number of alleles (including ref) - * @param ploidy Ploidy, or number of chromosomes in set - * @return Number of likelihood elements we need to hold. - */ - - public static int calculateNumLikelihoods(final int numAlleles, final int ploidy) { - - // fast, closed form solution for diploid samples (most common use case) - if (ploidy==2) - return numAlleles*(numAlleles+1)/2; - + * Actually does the computation in @see #numLikelihoods + * + * @param numAlleles + * @param ploidy + * @return + */ + private static final int calcNumLikelihoods(final int numAlleles, final int ploidy) { if (numAlleles == 1) return 1; else if (ploidy == 1) return numAlleles; + else { + int acc =0; + for (int k=0; k <= ploidy; k++ ) + acc += calcNumLikelihoods(numAlleles - 1, ploidy - k); + return acc; + } + } - int acc =0; - for (int k=0; k <= ploidy; k++ ) - acc += calculateNumLikelihoods(numAlleles-1, ploidy-k); - - return acc; - + /** + * Compute how many likelihood elements are associated with the given number of alleles + * Equivalent to asking in how many ways N non-negative integers can add up to P is S(N,P) + * where P = ploidy (number of chromosomes) and N = total # of alleles. + * Each chromosome can be in one single state (0,...,N-1) and there are P of them. + * Naive solution would be to store N*P likelihoods, but this is not necessary because we can't distinguish chromosome states, but rather + * only total number of alt allele counts in all chromosomes. + * + * For example, S(3,2) = 6: For alleles A,B,C, on a diploid organism we have six possible genotypes: + * AA,AB,BB,AC,BC,CC. + * Another way of expressing is with vector (#of A alleles, # of B alleles, # of C alleles) + * which is then, for ordering above, (2,0,0), (1,1,0), (0,2,0), (1,1,0), (0,1,1), (0,0,2) + * In general, for P=2 (regular biallelic), then S(N,2) = N*(N+1)/2 + * + * Note this method caches the value for most common num Allele / ploidy combinations for efficiency + * + * Recursive implementation: + * S(N,P) = sum_{k=0}^P S(N-1,P-k) + * because if we have N integers, we can condition 1 integer to be = k, and then N-1 integers have to sum to P-K + * With initial conditions + * S(N,1) = N (only way to have N integers add up to 1 is all-zeros except one element with a one. There are N of these vectors) + * S(1,P) = 1 (only way to have 1 integer add to P is with that integer P itself). + * + * @param numAlleles Number of alleles (including ref) + * @param ploidy Ploidy, or number of chromosomes in set + * @return Number of likelihood elements we need to hold. + */ + @Requires({"ploidy > 0", "numAlleles > 0"}) + @Ensures("result > 0") + public static int numLikelihoods(final int numAlleles, final int ploidy) { + if ( numAlleles < NUM_LIKELIHOODS_CACHE_N_ALLELES + && ploidy < NUM_LIKELIHOODS_CACHE_PLOIDY ) + return numLikelihoodCache[numAlleles][ploidy]; + else { + // have to calculate on the fly + return calcNumLikelihoods(numAlleles, ploidy); + } } // As per the VCF spec: "the ordering of genotypes for the likelihoods is given by: F(j/k) = (k*(k+1)/2)+j. @@ -348,7 +427,7 @@ public class GenotypeLikelihoods { * @return the PL indexes */ public static int[] getPLIndecesOfAlleles(final int allele1Index, final int allele2Index) { - + final int[] indexes = new int[3]; indexes[0] = calculatePLindex(allele1Index, allele1Index); indexes[1] = calculatePLindex(allele1Index, allele2Index); diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypeType.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypeType.java new file mode 100644 index 000000000..1e3f43065 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypeType.java @@ -0,0 +1,46 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext; + +/** + * Summary types for Genotype objects + * + * @author Your Name + * @since Date created + */ +public enum GenotypeType { + /** The sample is no-called (all alleles are NO_CALL */ + NO_CALL, + /** The sample is homozygous reference */ + HOM_REF, + /** The sample is heterozygous, with at least one ref and at least one one alt in any order */ + HET, + /** All alleles are non-reference */ + HOM_VAR, + /** There is no allele data availble for this sample (alleles.isEmpty) */ + UNAVAILABLE, + /** Some chromosomes are NO_CALL and others are called */ + MIXED // no-call and call in the same genotype +} diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypesContext.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypesContext.java index 85f7cc078..ba8668fa9 100644 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypesContext.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/GenotypesContext.java @@ -61,6 +61,11 @@ public class GenotypesContext implements List { */ ArrayList notToBeDirectlyAccessedGenotypes; + /** + * Cached value of the maximum ploidy observed among all samples + */ + private int maxPloidy = -1; + /** Are we allowing users to modify the list? */ boolean immutable = false; @@ -88,7 +93,7 @@ public class GenotypesContext implements List { /** * Create an GenotypeContext containing genotypes */ - @Requires({"genotypes != null", "noDups(genotypes)"}) + @Requires("genotypes != null") protected GenotypesContext(final ArrayList genotypes) { this.notToBeDirectlyAccessedGenotypes = genotypes; this.sampleNameToOffset = null; @@ -105,7 +110,7 @@ public class GenotypesContext implements List { * @param sampleNamesInOrder a list of sample names, one for each genotype in genotypes, sorted in alphabetical * order. */ - @Requires({"genotypes != null", "noDups(genotypes)", + @Requires({"genotypes != null", "sampleNameToOffset != null", "sampleNamesInOrder != null", "genotypes.size() == sampleNameToOffset.size()", @@ -157,9 +162,7 @@ public class GenotypesContext implements List { */ @Requires({"genotypes != null", "sampleNameToOffset != null", - "sampleNamesInOrder != null", - "sameSamples(genotypes, sampleNamesInOrder)", - "sameSamples(genotypes, sampleNameToOffset.keySet())"}) + "sampleNamesInOrder != null"}) @Ensures({"result != null"}) public static final GenotypesContext create(final ArrayList genotypes, final Map sampleNameToOffset, @@ -251,8 +254,7 @@ public class GenotypesContext implements List { sampleNamesInOrder = null; } - @Ensures({"sampleNamesInOrder != null", - "sameSamples(notToBeDirectlyAccessedGenotypes, sampleNamesInOrder)"}) + @Ensures({"sampleNamesInOrder != null"}) protected void ensureSampleOrdering() { if ( sampleNamesInOrder == null ) { sampleNamesInOrder = new ArrayList(size()); @@ -264,8 +266,7 @@ public class GenotypesContext implements List { } } - @Ensures({"sampleNameToOffset != null", - "sameSamples(notToBeDirectlyAccessedGenotypes, sampleNameToOffset.keySet())"}) + @Ensures({"sampleNameToOffset != null"}) protected void ensureSampleNameMap() { if ( sampleNameToOffset == null ) { sampleNameToOffset = new HashMap(size()); @@ -276,10 +277,15 @@ public class GenotypesContext implements List { } } - // for testing purposes - protected void ensureAll() { - ensureSampleNameMap(); - ensureSampleOrdering(); + // --------------------------------------------------------------------------- + // + // Lazy methods + // + // --------------------------------------------------------------------------- + + public boolean isLazyWithData() { + return this instanceof LazyGenotypesContext && + ((LazyGenotypesContext)this).getUnparsedGenotypeData() != null; } // --------------------------------------------------------------------------- @@ -336,7 +342,6 @@ public class GenotypesContext implements List { */ @Override @Requires({"genotype != null", "get(genotype.getSampleName()) == null"}) - @Ensures("noDups(getGenotypes())") public boolean add(final Genotype genotype) { checkImmutability(); invalidateSampleOrdering(); @@ -351,7 +356,6 @@ public class GenotypesContext implements List { @Override @Requires("! contains(genotype)") - @Ensures("noDups(getGenotypes())") public void add(final int i, final Genotype genotype) { throw new UnsupportedOperationException(); } @@ -367,7 +371,6 @@ public class GenotypesContext implements List { */ @Override @Requires("! containsAny(genotypes)") - @Ensures("noDups(getGenotypes())") public boolean addAll(final Collection genotypes) { checkImmutability(); invalidateSampleOrdering(); @@ -410,6 +413,17 @@ public class GenotypesContext implements List { return getGenotypes().get(i); } + @Ensures("result >= 0") + public int getMaxPloidy() { + if ( maxPloidy == -1 ) { + maxPloidy = 0; // necessary in the case where there are no genotypes + for ( final Genotype g : getGenotypes() ) { + maxPloidy = Math.max(g.getPloidy(), maxPloidy); + } + } + return maxPloidy; + } + /** * Gets sample associated with this sampleName, or null if none is found * @@ -511,7 +525,6 @@ public class GenotypesContext implements List { } @Override - @Ensures("noDups(getGenotypes())") public Genotype set(final int i, final Genotype genotype) { checkImmutability(); final Genotype prev = getGenotypes().set(i, genotype); @@ -696,29 +709,4 @@ public class GenotypesContext implements List { } } } - - protected final static boolean noDups(Collection genotypes) { - Set names = new HashSet(genotypes.size()); - for ( final Genotype g : genotypes ) { - if ( names.contains(g.getSampleName()) ) - return false; - names.add(g.getSampleName()); - } - - return true; - } - - protected final static boolean sameSamples(List genotypes, Collection sampleNamesInOrder) { - Set names = new HashSet(sampleNamesInOrder); - if ( names.size() != sampleNamesInOrder.size() ) - return false; - if ( genotypes.size() != names.size() ) - return false; - - for ( final Genotype g : genotypes ) - if ( ! names.contains(g.getSampleName()) ) - return false; - - return true; - } } diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/LazyGenotypesContext.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/LazyGenotypesContext.java index ce0422352..1f73ecabd 100644 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/LazyGenotypesContext.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/LazyGenotypesContext.java @@ -80,9 +80,7 @@ public class LazyGenotypesContext extends GenotypesContext { final Map sampleNameToOffset; final List sampleNamesInOrder; - @Requires({"genotypes != null", "sampleNamesInOrder != null", "sampleNameToOffset != null", - "sameSamples(genotypes, sampleNamesInOrder)", - "sameSamples(genotypes, sampleNameToOffset.keySet())"}) + @Requires({"genotypes != null", "sampleNamesInOrder != null", "sampleNameToOffset != null"}) public LazyData(final ArrayList genotypes, final List sampleNamesInOrder, final Map sampleNameToOffset) { diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/SlowGenotype.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/SlowGenotype.java new file mode 100755 index 000000000..c3f027484 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/SlowGenotype.java @@ -0,0 +1,193 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext; + + +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.util.*; + +/** + * This class encompasses all the basic information about a genotype. It is immutable. + * + * @author Mark DePristo + */ +@Deprecated +public class SlowGenotype extends Genotype { + protected CommonInfo commonInfo; + public final static double NO_LOG10_PERROR = CommonInfo.NO_LOG10_PERROR; + protected List alleles = null; + protected boolean isPhased = false; + + protected SlowGenotype(final String sampleName, + final List alleles, + final double log10PError, + final String filters, + final Map attributes, + final boolean isPhased, + final double[] log10Likelihoods) { + super(sampleName, filters); + + if ( alleles == null || alleles.isEmpty() ) + this.alleles = Collections.emptyList(); + else + this.alleles = Collections.unmodifiableList(alleles); + commonInfo = new CommonInfo(sampleName, log10PError, Collections.emptySet(), attributes); + if ( log10Likelihoods != null ) + commonInfo.putAttribute(VCFConstants.GENOTYPE_PL_KEY, GenotypeLikelihoods.fromLog10Likelihoods(log10Likelihoods)); + this.isPhased = isPhased; + validate(); + } + + @Override public List getAlleles() { + return alleles; + } + + @Override public Allele getAllele(int i) { + if ( getType() == GenotypeType.UNAVAILABLE ) + throw new ReviewedStingException("Requesting alleles for an UNAVAILABLE genotype"); + return alleles.get(i); + } + + @Override public boolean isPhased() { return isPhased; } + + // + // Useful methods for getting genotype likelihoods for a genotype object, if present + // + @Override public boolean hasLikelihoods() { + return (commonInfo.hasAttribute(VCFConstants.GENOTYPE_PL_KEY) && !commonInfo.getAttribute(VCFConstants.GENOTYPE_PL_KEY).equals(VCFConstants.MISSING_VALUE_v4)) || + (commonInfo.hasAttribute(VCFConstants.GENOTYPE_LIKELIHOODS_KEY) && !commonInfo.getAttribute(VCFConstants.GENOTYPE_LIKELIHOODS_KEY).equals(VCFConstants.MISSING_VALUE_v4)); + } + + @Override public GenotypeLikelihoods getLikelihoods() { + GenotypeLikelihoods x = getLikelihoods(VCFConstants.GENOTYPE_PL_KEY, true); + if ( x != null ) + return x; + else { + x = getLikelihoods(VCFConstants.GENOTYPE_LIKELIHOODS_KEY, false); + return x; + } + } + + private GenotypeLikelihoods getLikelihoods(String key, boolean asPL) { + Object x = commonInfo.getAttribute(key); + if ( x instanceof String ) { + if ( asPL ) + return GenotypeLikelihoods.fromPLField((String)x); + else + return GenotypeLikelihoods.fromGLField((String)x); + } + else if ( x instanceof GenotypeLikelihoods ) return (GenotypeLikelihoods)x; + else return null; + } + + private final void validate() { + if ( alleles.size() == 0) return; + + for ( Allele allele : alleles ) { + if ( allele == null ) + throw new IllegalArgumentException("BUG: allele cannot be null in Genotype"); + } + } + + // --------------------------------------------------------------------------------------------------------- + // + // get routines to access context info fields + // + // --------------------------------------------------------------------------------------------------------- + @Override public boolean hasLog10PError() { return commonInfo.hasLog10PError(); } + @Override public double getLog10PError() { return commonInfo.getLog10PError(); } + + @Override + public boolean hasExtendedAttribute(String key) { return commonInfo.hasAttribute(key); } + + @Override + public Object getExtendedAttribute(String key) { return commonInfo.getAttribute(key); } + + @Override + public Object getExtendedAttribute(String key, Object defaultValue) { + return commonInfo.getAttribute(key, defaultValue); + } + +// public String getAttributeAsString(String key, String defaultValue) { return commonInfo.getAttributeAsString(key, defaultValue); } +// public int getAttributeAsInt(String key, int defaultValue) { return commonInfo.getAttributeAsInt(key, defaultValue); } +// public double getAttributeAsDouble(String key, double defaultValue) { return commonInfo.getAttributeAsDouble(key, defaultValue); } +// public boolean getAttributeAsBoolean(String key, boolean defaultValue) { return commonInfo.getAttributeAsBoolean(key, defaultValue); } + + @Override + public int[] getPL() { + return hasPL() ? getLikelihoods().getAsPLs() : null; + } + + @Override + public boolean hasPL() { + return hasLikelihoods(); + } + + @Override + public int getDP() { + return commonInfo.getAttributeAsInt(VCFConstants.DEPTH_KEY, -1); + } + + @Override + public boolean hasDP() { + return commonInfo.hasAttribute(VCFConstants.DEPTH_KEY); + } + + @Override + public int[] getAD() { + if ( hasAD() ) { + return (int[])commonInfo.getAttribute(VCFConstants.GENOTYPE_ALLELE_DEPTHS); + } else + return null; + } + + @Override + public boolean hasAD() { + return commonInfo.hasAttribute(VCFConstants.GENOTYPE_ALLELE_DEPTHS); + } + + @Override + public int getGQ() { + if ( commonInfo.hasLog10PError() ) + return (int)Math.round(commonInfo.getPhredScaledQual()); + else + return -1; + } + + @Override + public boolean hasGQ() { + return hasLog10PError(); + } + + @Override + public Map getExtendedAttributes() { + final Map ea = new LinkedHashMap(commonInfo.getAttributes()); + for ( final String primary : FastGenotype.PRIMARY_KEYS ) + ea.remove(primary); + return ea; + } +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java index 3faad46e2..dcdd95d00 100755 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java @@ -1,10 +1,12 @@ package org.broadinstitute.sting.utils.variantcontext; +import org.apache.log4j.Logger; import org.broad.tribble.Feature; import org.broad.tribble.TribbleException; import org.broad.tribble.util.ParsingUtils; -import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; import java.util.*; @@ -158,9 +160,28 @@ import java.util.*; * VariantContext vc1 = vc.subContextFromGenotypes(Arrays.asList(g1)); * * + * + * Fully decoding. Currently VariantContexts support some fields, particularly those + * stored as generic attributes, to be of any type. For example, a field AB might + * be naturally a floating point number, 0.51, but when it's read into a VC its + * not decoded into the Java presentation but left as a string "0.51". A fully + * decoded VariantContext is one where all values have been converted to their + * corresponding Java object types, based on the types declared in a VCFHeader. + * + * The fullyDecode() takes a header object and creates a new fully decoded VariantContext + * where all fields are converted to their true java representation. The VCBuilder + * can be told that all fields are fully decoded, in which case no work is done when + * asking for a fully decoded version of the VC. + * + * * @author depristo */ public class VariantContext implements Feature { // to enable tribble integration + private final static boolean WARN_ABOUT_BAD_END = true; + final protected static Logger logger = Logger.getLogger(VariantContext.class); + + + private boolean fullyDecoded = false; protected CommonInfo commonInfo = null; public final static double NO_LOG10_PERROR = CommonInfo.NO_LOG10_PERROR; @@ -212,7 +233,6 @@ public class VariantContext implements Feature { // to enable tribble integratio GENOTYPES } - private final static EnumSet ALL_VALIDATION = EnumSet.allOf(Validation.class); private final static EnumSet NO_VALIDATION = EnumSet.noneOf(Validation.class); // --------------------------------------------------------------------------------------------------------- @@ -231,7 +251,7 @@ public class VariantContext implements Feature { // to enable tribble integratio other.getAlleles(), other.getGenotypes(), other.getLog10PError(), other.getFiltersMaybeNull(), other.getAttributes(), other.REFERENCE_BASE_FOR_INDEL, - NO_VALIDATION); + other.fullyDecoded, NO_VALIDATION); } /** @@ -249,12 +269,19 @@ public class VariantContext implements Feature { // to enable tribble integratio * @param referenceBaseForIndel padded reference base * @param validationToPerform set of validation steps to take */ - protected VariantContext(String source, String ID, - String contig, long start, long stop, - Collection alleles, GenotypesContext genotypes, - double log10PError, Set filters, Map attributes, - Byte referenceBaseForIndel, - EnumSet validationToPerform ) { + protected VariantContext(final String source, + final String ID, + final String contig, + final long start, + final long stop, + final Collection alleles, + final GenotypesContext genotypes, + final double log10PError, + final Set filters, + final Map attributes, + final Byte referenceBaseForIndel, + final boolean fullyDecoded, + final EnumSet validationToPerform ) { if ( contig == null ) { throw new IllegalArgumentException("Contig cannot be null"); } this.contig = contig; this.start = start; @@ -292,6 +319,8 @@ public class VariantContext implements Feature { // to enable tribble integratio } } + this.fullyDecoded = fullyDecoded; + if ( ! validationToPerform.isEmpty() ) { validate(validationToPerform); } @@ -303,19 +332,36 @@ public class VariantContext implements Feature { // to enable tribble integratio // // --------------------------------------------------------------------------------------------------------- - public VariantContext subContextFromSamples(Set sampleNames, Collection alleles) { - VariantContextBuilder builder = new VariantContextBuilder(this); - return builder.genotypes(genotypes.subsetToSamples(sampleNames)).alleles(alleles).make(); - } + /** + * This method subsets down to a set of samples. + * + * At the same time returns the alleles to just those in use by the samples, + * if rederiveAllelesFromGenotypes is true, otherwise the full set of alleles + * in this VC is returned as the set of alleles in the subContext, even if + * some of those alleles aren't in the samples + * + * @param sampleNames + * @return + */ + public VariantContext subContextFromSamples(Set sampleNames, final boolean rederiveAllelesFromGenotypes ) { + if ( sampleNames.containsAll(getSampleNames()) ) { + return this; // fast path when you don't have any work to do + } else { + VariantContextBuilder builder = new VariantContextBuilder(this); + GenotypesContext newGenotypes = genotypes.subsetToSamples(sampleNames); - public VariantContext subContextFromSamples(Set sampleNames) { - VariantContextBuilder builder = new VariantContextBuilder(this); - GenotypesContext newGenotypes = genotypes.subsetToSamples(sampleNames); - return builder.genotypes(newGenotypes).alleles(allelesOfGenotypes(newGenotypes)).make(); + if ( rederiveAllelesFromGenotypes ) + builder.alleles(allelesOfGenotypes(newGenotypes)); + else { + builder.alleles(alleles); + } + + return builder.genotypes(newGenotypes).make(); + } } public VariantContext subContextFromSample(String sampleName) { - return subContextFromSamples(Collections.singleton(sampleName)); + return subContextFromSamples(Collections.singleton(sampleName), true); } /** @@ -516,6 +562,14 @@ public class VariantContext implements Feature { // to enable tribble integratio return REFERENCE_BASE_FOR_INDEL; } + public String getAlleleStringWithRefPadding(final Allele allele) { + if ( VCFAlleleClipper.needsPadding(this) ) + return VCFAlleleClipper.padAllele(this, allele).getDisplayString(); + else + return allele.getDisplayString(); + } + + // --------------------------------------------------------------------------------------------------------- // // get routines to access context info fields @@ -575,6 +629,17 @@ public class VariantContext implements Feature { // to enable tribble integratio return alleles.size(); } + /** + * Returns the maximum ploidy of all samples in this VC, or -1 if there are no genotypes + * + * This function is caching, so it's only expensive on the first call + * + * @return -1, or the max ploidy + */ + public int getMaxPloidy() { + return genotypes.getMaxPloidy(); + } + /** * @return The allele sharing the same bases as this String. A convenience method; better to use byte[] */ @@ -805,10 +870,11 @@ public class VariantContext implements Feature { // to enable tribble integratio * @return chromosome count */ public int getCalledChrCount() { - return getCalledChrCount(new HashSet(0)); + final Set noSamples = Collections.emptySet(); + return getCalledChrCount(noSamples); } - /** + /** * Returns the number of chromosomes carrying any allele in the genotypes (i.e., excluding NO_CALLS) * * @param sampleIds IDs of samples to take into account. If empty then all samples are included. @@ -819,8 +885,8 @@ public class VariantContext implements Feature { // to enable tribble integratio GenotypesContext genotypes = sampleIds.isEmpty() ? getGenotypes() : getGenotypes(sampleIds); for ( final Genotype g : genotypes) { - for ( final Allele a : g.getAlleles() ) - n += a.isNoCall() ? 0 : 1; + for ( final Allele a : g.getAlleles() ) + n += a.isNoCall() ? 0 : 1; } return n; @@ -848,7 +914,7 @@ public class VariantContext implements Feature { // to enable tribble integratio GenotypesContext genotypes = sampleIds.isEmpty() ? getGenotypes() : getGenotypes(sampleIds); for ( final Genotype g : genotypes ) { - n += g.getAlleles(a).size(); + n += g.countAllele(a); } return n; @@ -878,7 +944,7 @@ public class VariantContext implements Feature { // to enable tribble integratio private void calculateGenotypeCounts() { if ( genotypeCounts == null ) { - genotypeCounts = new int[Genotype.Type.values().length]; + genotypeCounts = new int[GenotypeType.values().length]; for ( final Genotype g : getGenotypes() ) { genotypeCounts[g.getType().ordinal()]++; @@ -893,7 +959,7 @@ public class VariantContext implements Feature { // to enable tribble integratio */ public int getNoCallCount() { calculateGenotypeCounts(); - return genotypeCounts[Genotype.Type.NO_CALL.ordinal()]; + return genotypeCounts[GenotypeType.NO_CALL.ordinal()]; } /** @@ -903,7 +969,7 @@ public class VariantContext implements Feature { // to enable tribble integratio */ public int getHomRefCount() { calculateGenotypeCounts(); - return genotypeCounts[Genotype.Type.HOM_REF.ordinal()]; + return genotypeCounts[GenotypeType.HOM_REF.ordinal()]; } /** @@ -913,7 +979,7 @@ public class VariantContext implements Feature { // to enable tribble integratio */ public int getHetCount() { calculateGenotypeCounts(); - return genotypeCounts[Genotype.Type.HET.ordinal()]; + return genotypeCounts[GenotypeType.HET.ordinal()]; } /** @@ -923,7 +989,7 @@ public class VariantContext implements Feature { // to enable tribble integratio */ public int getHomVarCount() { calculateGenotypeCounts(); - return genotypeCounts[Genotype.Type.HOM_VAR.ordinal()]; + return genotypeCounts[GenotypeType.HOM_VAR.ordinal()]; } /** @@ -933,7 +999,7 @@ public class VariantContext implements Feature { // to enable tribble integratio */ public int getMixedCount() { calculateGenotypeCounts(); - return genotypeCounts[Genotype.Type.MIXED.ordinal()]; + return genotypeCounts[GenotypeType.MIXED.ordinal()]; } // --------------------------------------------------------------------------------------------------------- @@ -1015,7 +1081,7 @@ public class VariantContext implements Feature { // to enable tribble integratio public void validateChromosomeCounts() { if ( !hasGenotypes() ) return; - + // AN if ( hasAttribute(VCFConstants.ALLELE_NUMBER_KEY) ) { int reportedAN = Integer.valueOf(getAttribute(VCFConstants.ALLELE_NUMBER_KEY).toString()); @@ -1065,6 +1131,7 @@ public class VariantContext implements Feature { // to enable tribble integratio // --------------------------------------------------------------------------------------------------------- private boolean validate(final EnumSet validationToPerform) { + validateStop(); for (final Validation val : validationToPerform ) { switch (val) { case ALLELES: validateAlleles(); break; @@ -1077,6 +1144,26 @@ public class VariantContext implements Feature { // to enable tribble integratio return true; } + /** + * Check that getEnd() == END from the info field, if it's present + */ + private void validateStop() { + if ( hasAttribute(VCFConstants.END_KEY) ) { + final int end = getAttributeAsInt(VCFConstants.END_KEY, -1); + assert end != -1; + if ( end != getEnd() && end != getEnd() + 1 ) { + // the end is allowed to 1 bigger because of the padding + final String message = "Badly formed variant context at location " + getChr() + ":" + + getStart() + "; getEnd() was " + getEnd() + + " but this VariantContext contains an END key with value " + end; + if ( WARN_ABOUT_BAD_END ) + logger.warn(message); + else + throw new ReviewedStingException(message); + } + } + } + private void validateReferencePadding() { if ( hasSymbolicAlleles() ) // symbolic alleles don't need padding... return; @@ -1115,8 +1202,9 @@ public class VariantContext implements Feature { // to enable tribble integratio // if ( getType() == Type.INDEL ) { // if ( getReference().length() != (getLocation().size()-1) ) { long length = (stop - start) + 1; - if ( (getReference().isNull() && length != 1 ) || - (!isSymbolic() && getReference().isNonNull() && (length - getReference().length() > 1))) { + if ( ! hasSymbolicAlleles() + && ((getReference().isNull() && length != 1 ) + || (getReference().isNonNull() && (length - getReference().length() > 1)))) { throw new IllegalStateException("BUG: GenomeLoc " + contig + ":" + start + "-" + stop + " has a size == " + length + " but the variation reference allele has length " + getReference().length() + " this = " + this); } } @@ -1211,13 +1299,24 @@ public class VariantContext implements Feature { // to enable tribble integratio } public String toString() { - return String.format("[VC %s @ %s of type=%s alleles=%s attr=%s GT=%s", - getSource(), contig + ":" + (start - stop == 0 ? start : start + "-" + stop), this.getType(), + return String.format("[VC %s @ %s Q%s of type=%s alleles=%s attr=%s GT=%s", + getSource(), contig + ":" + (start - stop == 0 ? start : start + "-" + stop), + hasLog10PError() ? String.format("%.2f", getPhredScaledQual()) : ".", + this.getType(), ParsingUtils.sortList(this.getAlleles()), ParsingUtils.sortedString(this.getAttributes()), this.getGenotypes()); } + public String toStringWithoutGenotypes() { + return String.format("[VC %s @ %s Q%s of type=%s alleles=%s attr=%s", + getSource(), contig + ":" + (start - stop == 0 ? start : start + "-" + stop), + hasLog10PError() ? String.format("%.2f", getPhredScaledQual()) : ".", + this.getType(), + ParsingUtils.sortList(this.getAlleles()), + ParsingUtils.sortedString(this.getAttributes())); + } + // protected basic manipulation routines private static List makeAlleles(Collection alleles) { final List alleleList = new ArrayList(alleles.size()); @@ -1249,6 +1348,143 @@ public class VariantContext implements Feature { // to enable tribble integratio return alleleList; } + // --------------------------------------------------------------------------------------------------------- + // + // Fully decode + // + // --------------------------------------------------------------------------------------------------------- + + /** + * Return a VC equivalent to this one but where all fields are fully decoded + * + * See VariantContext document about fully decoded + * + * @param header containing types about all fields in this VC + * @return a fully decoded version of this VC + */ + public VariantContext fullyDecode(final VCFHeader header, final boolean lenientDecoding) { + if ( isFullyDecoded() ) + return this; + else { + // TODO -- warning this is potentially very expensive as it creates copies over and over + final VariantContextBuilder builder = new VariantContextBuilder(this); + fullyDecodeInfo(builder, header, lenientDecoding); + fullyDecodeGenotypes(builder, header); + builder.fullyDecoded(true); + return builder.make(); + } + } + + /** + * See VariantContext document about fully decoded + * @return true if this is a fully decoded VC + */ + public boolean isFullyDecoded() { + return fullyDecoded; + } + + private final void fullyDecodeInfo(final VariantContextBuilder builder, final VCFHeader header, final boolean lenientDecoding) { + builder.attributes(fullyDecodeAttributes(getAttributes(), header, lenientDecoding)); + } + + private final Map fullyDecodeAttributes(final Map attributes, + final VCFHeader header, + final boolean lenientDecoding) { + final Map newAttributes = new HashMap(attributes.size()); + + for ( final Map.Entry attr : attributes.entrySet() ) { + final String field = attr.getKey(); + + if ( field.equals(VCFConstants.GENOTYPE_FILTER_KEY) ) + continue; // gross, FT is part of the extended attributes + + final VCFCompoundHeaderLine format = VariantContextUtils.getMetaDataForField(header, field); + final Object decoded = decodeValue(field, attr.getValue(), format); + + if ( decoded != null && + ! lenientDecoding + && format.getCountType() != VCFHeaderLineCount.UNBOUNDED + && format.getType() != VCFHeaderLineType.Flag ) { // we expect exactly the right number of elements + final int obsSize = decoded instanceof List ? ((List) decoded).size() : 1; + final int expSize = format.getCount(this); + if ( obsSize != expSize ) { + throw new UserException.MalformedVCFHeader("Discordant field size detected for field " + + field + " at " + getChr() + ":" + getStart() + ". Field had " + obsSize + " values " + + "but the header says this should have " + expSize + " values based on header record " + + format); + } + } + newAttributes.put(field, decoded); + } + + return newAttributes; + } + + private final Object decodeValue(final String field, final Object value, final VCFCompoundHeaderLine format) { + if ( value instanceof String ) { + if ( field.equals(VCFConstants.GENOTYPE_PL_KEY) ) + return GenotypeLikelihoods.fromPLField((String)value); + + final String string = (String)value; + if ( string.indexOf(",") != -1 ) { + final String[] splits = string.split(","); + final List values = new ArrayList(splits.length); + for ( int i = 0; i < splits.length; i++ ) + values.add(decodeOne(field, splits[i], format)); + return values; + } else { + return decodeOne(field, string, format); + } + } else if ( value instanceof List && (((List) value).get(0)) instanceof String ) { + final List asList = (List)value; + final List values = new ArrayList(asList.size()); + for ( final String s : asList ) + values.add(decodeOne(field, s, format)); + return values; + } else { + return value; + } + + // allowMissingValuesComparedToHeader + } + + private final Object decodeOne(final String field, final String string, final VCFCompoundHeaderLine format) { + try { + if ( string.equals(VCFConstants.MISSING_VALUE_v4) ) + return null; + else { + switch ( format.getType() ) { + case Character: return string; + case Flag: + final boolean b = Boolean.valueOf(string) || string.equals("1"); + if ( b == false ) + throw new UserException.MalformedVCF("VariantContext FLAG fields " + field + " cannot contain false values" + + " as seen at " + getChr() + ":" + getStart()); + return b; + case String: return string; + case Integer: return Integer.valueOf(string); + case Float: return Double.valueOf(string); + default: throw new ReviewedStingException("Unexpected type for field" + field); + } + } + } catch (NumberFormatException e) { + throw new UserException.MalformedVCF("Could not decode field " + field + " with value " + string + " of declared type " + format.getType()); + } + } + + private final void fullyDecodeGenotypes(final VariantContextBuilder builder, final VCFHeader header) { + final GenotypesContext gc = new GenotypesContext(); + for ( final Genotype g : getGenotypes() ) { + gc.add(fullyDecodeGenotypes(g, header)); + } + builder.genotypesNoValidation(gc); + } + + private final Genotype fullyDecodeGenotypes(final Genotype g, final VCFHeader header) { + final Map map = fullyDecodeAttributes(g.getExtendedAttributes(), header, true); + return new GenotypeBuilder(g).attributes(map).make(); + } + // --------------------------------------------------------------------------------------------------------- // // tribble integration routines -- not for public consumption @@ -1267,7 +1503,11 @@ public class VariantContext implements Feature { // to enable tribble integratio } public boolean hasSymbolicAlleles() { - for (final Allele a: getAlleles()) { + return hasSymbolicAlleles(getAlleles()); + } + + public static boolean hasSymbolicAlleles( final List alleles ) { + for ( final Allele a: alleles ) { if (a.isSymbolic()) { return true; } @@ -1279,7 +1519,7 @@ public class VariantContext implements Feature { // to enable tribble integratio // optimization: for bi-allelic sites, just return the 1only alt allele if ( isBiallelic() ) return getAlternateAllele(0); - + Allele best = null; int maxAC1 = 0; for ( Allele a : getAlternateAlleles() ) { diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextBuilder.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextBuilder.java index ff66162c8..f2375f6f9 100644 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextBuilder.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextBuilder.java @@ -60,6 +60,7 @@ import java.util.*; */ public class VariantContextBuilder { // required fields + private boolean fullyDecoded = false; private String source = null; private String contig = null; private long start = -1; @@ -107,7 +108,7 @@ public class VariantContextBuilder { * @param parent Cannot be null */ public VariantContextBuilder(VariantContext parent) { - if ( parent == null ) throw new ReviewedStingException("BUG: VariantContext parent argument cannot be null in VariantContextBuilder"); + if ( parent == null ) throw new ReviewedStingException("BUG: VariantContextBuilder parent argument cannot be null in VariantContextBuilder"); this.alleles = parent.alleles; this.attributes = parent.getAttributes(); this.attributesCanBeModified = false; @@ -120,6 +121,29 @@ public class VariantContextBuilder { this.source = parent.getSource(); this.start = parent.getStart(); this.stop = parent.getEnd(); + this.fullyDecoded = parent.isFullyDecoded(); + } + + public VariantContextBuilder(VariantContextBuilder parent) { + if ( parent == null ) throw new ReviewedStingException("BUG: VariantContext parent argument cannot be null in VariantContextBuilder"); + this.alleles = parent.alleles; + this.attributesCanBeModified = false; + this.contig = parent.contig; + this.genotypes = parent.genotypes; + this.ID = parent.ID; + this.log10PError = parent.log10PError; + this.referenceBaseForIndel = parent.referenceBaseForIndel; + this.source = parent.source; + this.start = parent.start; + this.stop = parent.stop; + this.fullyDecoded = parent.fullyDecoded; + + this.attributes(parent.attributes); + this.filters(parent.filters); + } + + public VariantContextBuilder copy() { + return new VariantContextBuilder(this); } /** @@ -135,6 +159,24 @@ public class VariantContextBuilder { return this; } + public VariantContextBuilder alleles(final List alleleStrings) { + List alleles = new ArrayList(alleleStrings.size()); + + for ( int i = 0; i < alleleStrings.size(); i++ ) { + alleles.add(Allele.create(alleleStrings.get(i), i == 0)); + } + + return alleles(alleles); + } + + public VariantContextBuilder alleles(final String ... alleleStrings) { + return alleles(Arrays.asList(alleleStrings)); + } + + public List getAlleles() { + return new ArrayList(alleles); + } + /** * Tells this builder to use this map of attributes alleles for the resulting VariantContext * @@ -144,7 +186,13 @@ public class VariantContextBuilder { * @param attributes */ public VariantContextBuilder attributes(final Map attributes) { - this.attributes = attributes; + if (attributes != null) { + this.attributes = attributes; + } + else { + this.attributes = new HashMap(); + } + this.attributesCanBeModified = true; return this; } @@ -182,6 +230,7 @@ public class VariantContextBuilder { * Makes the attributes field modifiable. In many cases attributes is just a pointer to an immutable * collection, so methods that want to add / remove records require the attributes to be copied to a */ + @Ensures({"this.attributesCanBeModified"}) private void makeAttributesModifiable() { if ( ! attributesCanBeModified ) { this.attributesCanBeModified = true; @@ -207,7 +256,14 @@ public class VariantContextBuilder { * @return */ public VariantContextBuilder filters(final String ... filters) { - filters(new HashSet(Arrays.asList(filters))); + filters(new LinkedHashSet(Arrays.asList(filters))); + return this; + } + + @Requires({"filter != null", "!filter.equals(\"PASS\")"}) + public VariantContextBuilder filter(final String filter) { + if ( this.filters == null ) this.filters = new LinkedHashSet(1); + this.filters.add(filter); return this; } @@ -317,6 +373,10 @@ public class VariantContextBuilder { return this; } + public VariantContextBuilder referenceBaseForIndel(final String referenceBaseForIndel) { + return referenceBaseForIndel(referenceBaseForIndel.getBytes()[0]); + } + /** * Tells us that the resulting VariantContext should have source field set to source * @param source @@ -395,6 +455,56 @@ public class VariantContextBuilder { return this; } + /** + * @see #computeEndFromAlleles(java.util.List, int, int) with endForSymbolicAlleles == -1 + */ + public VariantContextBuilder computeEndFromAlleles(final List alleles, final int start) { + return computeEndFromAlleles(alleles, start, -1); + } + + /** + * Compute the end position for this VariantContext from the alleles themselves + * + * @see VariantContextUtils.computeEndFromAlleles() + * + * assigns this builder the stop position computed. + * + * @param alleles the list of alleles to consider. The reference allele must be the first one + * @param start the known start position of this event + * @param endForSymbolicAlleles the end position to use if any of the alleles is symbolic. Can be -1 + * if no is expected but will throw an error if one is found + * @return this builder + */ + @Requires({"! alleles.isEmpty()", "start > 0", "endForSymbolicAlleles == -1 || endForSymbolicAlleles > 0" }) + public VariantContextBuilder computeEndFromAlleles(final List alleles, final int start, final int endForSymbolicAlleles) { + stop(VariantContextUtils.computeEndFromAlleles(alleles, start, endForSymbolicAlleles)); + return this; + } + + /** + * @return true if this builder contains fully decoded data + * + * See VariantContext for more information + */ + public boolean isFullyDecoded() { + return fullyDecoded; + } + + /** + * Sets this builder's fully decoded state to true. + * + * A fully decoded builder indicates that all fields are represented by their + * proper java objects (e.g., Integer(10) not "10"). + * + * See VariantContext for more information + * + * @param isFullyDecoded + */ + public VariantContextBuilder fullyDecoded(boolean isFullyDecoded) { + this.fullyDecoded = isFullyDecoded; + return this; + } + /** * Takes all of the builder data provided up to this point, and instantiates * a freshly allocated VariantContext with all of the builder data. This @@ -407,6 +517,6 @@ public class VariantContextBuilder { public VariantContext make() { return new VariantContext(source, ID, contig, start, stop, alleles, genotypes, log10PError, filters, attributes, - referenceBaseForIndel, toValidate); + referenceBaseForIndel, fullyDecoded, toValidate); } } diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextUtils.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextUtils.java index 92915faaf..d7e072980 100755 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextUtils.java @@ -27,12 +27,13 @@ import com.google.java.contract.Ensures; import com.google.java.contract.Requires; import org.apache.commons.jexl2.Expression; import org.apache.commons.jexl2.JexlEngine; +import org.apache.commons.lang.ArrayUtils; import org.apache.log4j.Logger; import org.broad.tribble.util.popgen.HardyWeinbergCalculation; import org.broadinstitute.sting.commandline.Hidden; import org.broadinstitute.sting.utils.*; -import org.broadinstitute.sting.utils.codecs.vcf.AbstractVCFCodec; -import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; @@ -46,12 +47,42 @@ public class VariantContextUtils { public final static String MERGE_REF_IN_ALL = "ReferenceInAll"; public final static String MERGE_FILTER_PREFIX = "filterIn"; + private static final List DIPLOID_NO_CALL = Arrays.asList(Allele.NO_CALL, Allele.NO_CALL); + private static Set MISSING_KEYS_WARNED_ABOUT = new HashSet(); + final public static JexlEngine engine = new JexlEngine(); public static final int DEFAULT_PLOIDY = 2; + private final static boolean ASSUME_MISSING_FIELDS_ARE_STRINGS = false; static { engine.setSilent(false); // will throw errors now for selects that don't evaluate properly engine.setLenient(false); + engine.setDebug(false); + } + + /** + * Ensures that VC contains all of the samples in allSamples by adding missing samples to + * the resulting VC with default diploid ./. genotypes + * + * @param vc + * @param allSamples + * @return + */ + public static VariantContext addMissingSamples(final VariantContext vc, final Set allSamples) { + // TODO -- what's the fastest way to do this calculation? + final Set missingSamples = new HashSet(allSamples); + missingSamples.removeAll(vc.getSampleNames()); + + if ( missingSamples.isEmpty() ) + return vc; + else { + //logger.warn("Adding " + missingSamples.size() + " missing samples to called context"); + final GenotypesContext gc = GenotypesContext.copy(vc.getGenotypes()); + for ( final String missing : missingSamples ) { + gc.add(new GenotypeBuilder(missing).alleles(DIPLOID_NO_CALL).make()); + } + return new VariantContextBuilder(vc).genotypes(gc).make(); + } } /** @@ -97,7 +128,7 @@ public class VariantContextUtils { // if there are alternate alleles, record the relevant tags if ( vc.getAlternateAlleles().size() > 0 ) { - ArrayList alleleFreqs = new ArrayList(); + ArrayList alleleFreqs = new ArrayList(); ArrayList alleleCounts = new ArrayList(); ArrayList foundersAlleleCounts = new ArrayList(); double totalFoundersChromosomes = (double)vc.getCalledChrCount(founderIds); @@ -107,20 +138,19 @@ public class VariantContextUtils { alleleCounts.add(vc.getCalledChrCount(allele)); foundersAlleleCounts.add(foundersAltChromosomes); if ( AN == 0 ) { - alleleFreqs.add("0.0"); + alleleFreqs.add(0.0); } else { - // todo -- this is a performance problem - final String freq = String.format(makePrecisionFormatStringFromDenominatorValue(totalFoundersChromosomes), ((double)foundersAltChromosomes / totalFoundersChromosomes)); + final Double freq = (double)foundersAltChromosomes / totalFoundersChromosomes; alleleFreqs.add(freq); } } attributes.put(VCFConstants.ALLELE_COUNT_KEY, alleleCounts.size() == 1 ? alleleCounts.get(0) : alleleCounts); attributes.put(VCFConstants.ALLELE_FREQUENCY_KEY, alleleFreqs.size() == 1 ? alleleFreqs.get(0) : alleleFreqs); - } - else { - attributes.put(VCFConstants.ALLELE_COUNT_KEY, 0); - attributes.put(VCFConstants.ALLELE_FREQUENCY_KEY, 0.0); + } else { + // if there's no alt AC and AF shouldn't be present + attributes.remove(VCFConstants.ALLELE_COUNT_KEY); + attributes.remove(VCFConstants.ALLELE_FREQUENCY_KEY); } } @@ -153,96 +183,28 @@ public class VariantContextUtils { builder.attributes(calculateChromosomeCounts(vc, new HashMap(vc.getAttributes()), removeStaleValues, founderIds)); } - public static String makePrecisionFormatStringFromDenominatorValue(double maxValue) { - int precision = 1; - - while ( maxValue > 1 ) { - precision++; - maxValue /= 10.0; - } - - return "%." + precision + "f"; - } - public static Genotype removePLs(Genotype g) { - Map attrs = new HashMap(g.getAttributes()); - attrs.remove(VCFConstants.PHRED_GENOTYPE_LIKELIHOODS_KEY); - attrs.remove(VCFConstants.GENOTYPE_LIKELIHOODS_KEY); - return new Genotype(g.getSampleName(), g.getAlleles(), g.getLog10PError(), g.filtersWereApplied() ? g.getFilters() : null, attrs, g.isPhased()); + if ( g.hasLikelihoods() ) + return new GenotypeBuilder(g).noPL().make(); + else + return g; } - public static VariantContext createVariantContextWithPaddedAlleles(VariantContext inputVC, boolean refBaseShouldBeAppliedToEndOfAlleles) { - // see if we need to pad common reference base from all alleles - boolean padVC = false; - - // We need to pad a VC with a common base if the length of the reference allele is less than the length of the VariantContext. - // This happens because the position of e.g. an indel is always one before the actual event (as per VCF convention). - final int recordLength = inputVC.getEnd() - inputVC.getStart() + 1; - final int referenceLength = inputVC.getReference().length(); - if ( referenceLength == recordLength ) - padVC = false; - else if ( referenceLength == recordLength - 1 ) - padVC = true; - else if ( !inputVC.hasSymbolicAlleles() ) - throw new IllegalArgumentException("Badly formed variant context at location " + String.valueOf(inputVC.getStart()) + - " in contig " + inputVC.getChr() + ". Reference length must be at most one base shorter than location size"); - - // nothing to do if we don't need to pad bases - if ( padVC ) { - if ( !inputVC.hasReferenceBaseForIndel() ) - throw new ReviewedStingException("Badly formed variant context at location " + inputVC.getChr() + ":" + inputVC.getStart() + "; no padded reference base is available."); - - Byte refByte = inputVC.getReferenceBaseForIndel(); - - List alleles = new ArrayList(); - - for (Allele a : inputVC.getAlleles()) { - // get bases for current allele and create a new one with trimmed bases - if (a.isSymbolic()) { - alleles.add(a); - } else { - String newBases; - if ( refBaseShouldBeAppliedToEndOfAlleles ) - newBases = a.getBaseString() + new String(new byte[]{refByte}); - else - newBases = new String(new byte[]{refByte}) + a.getBaseString(); - alleles.add(Allele.create(newBases,a.isReference())); + public final static VCFCompoundHeaderLine getMetaDataForField(final VCFHeader header, final String field) { + VCFCompoundHeaderLine metaData = header.getFormatHeaderLine(field); + if ( metaData == null ) metaData = header.getInfoHeaderLine(field); + if ( metaData == null ) { + if ( ASSUME_MISSING_FIELDS_ARE_STRINGS ) { + if ( ! MISSING_KEYS_WARNED_ABOUT.contains(field) ) { + MISSING_KEYS_WARNED_ABOUT.add(field); + logger.warn("Field " + field + " missing from VCF header, assuming it is an unbounded string type"); } + return new VCFInfoHeaderLine(field, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Auto-generated string header for " + field); } - - // now we can recreate new genotypes with trimmed alleles - GenotypesContext genotypes = GenotypesContext.create(inputVC.getNSamples()); - for (final Genotype g : inputVC.getGenotypes() ) { - List inAlleles = g.getAlleles(); - List newGenotypeAlleles = new ArrayList(g.getAlleles().size()); - for (Allele a : inAlleles) { - if (a.isCalled()) { - if (a.isSymbolic()) { - newGenotypeAlleles.add(a); - } else { - String newBases; - if ( refBaseShouldBeAppliedToEndOfAlleles ) - newBases = a.getBaseString() + new String(new byte[]{refByte}); - else - newBases = new String(new byte[]{refByte}) + a.getBaseString(); - newGenotypeAlleles.add(Allele.create(newBases,a.isReference())); - } - } - else { - // add no-call allele - newGenotypeAlleles.add(Allele.NO_CALL); - } - } - genotypes.add(new Genotype(g.getSampleName(), newGenotypeAlleles, g.getLog10PError(), - g.getFilters(), g.getAttributes(), g.isPhased())); - - } - - return new VariantContextBuilder(inputVC).alleles(alleles).genotypes(genotypes).make(); + else + throw new UserException.MalformedVCF("Fully decoding VariantContext requires header line for all fields, but none was found for " + field); } - else - return inputVC; - + return metaData; } /** @@ -433,9 +395,10 @@ public class VariantContextUtils { // Genotypes final GenotypesContext genotypes = GenotypesContext.create(vc.getNSamples()); for ( final Genotype g : vc.getGenotypes() ) { - Map genotypeAttributes = subsetAttributes(g.commonInfo, keysToPreserve); - genotypes.add(new Genotype(g.getSampleName(), g.getAlleles(), g.getLog10PError(), g.getFilters(), - genotypeAttributes, g.isPhased())); + final GenotypeBuilder gb = new GenotypeBuilder(g); + // remove AD, DP, PL, and all extended attributes, keeping just GT and GQ + gb.noAD().noDP().noPL().noAttributes(); + genotypes.add(gb.make()); } return builder.genotypes(genotypes).attributes(attributes); @@ -530,7 +493,7 @@ public class VariantContextUtils { for (final VariantContext vc : prepaddedVCs) { // also a reasonable place to remove filtered calls, if needed if ( ! filteredAreUncalled || vc.isNotFiltered() ) - VCs.add(createVariantContextWithPaddedAlleles(vc, false)); + VCs.add(VCFAlleleClipper.createVariantContextWithPaddedAlleles(vc)); } if ( VCs.size() == 0 ) // everything is filtered out and we're filteredAreUncalled return null; @@ -681,7 +644,9 @@ public class VariantContextUtils { if ( setKey != null ) { attributes.put(setKey, setValue); - if( mergeInfoWithMaxAC && vcWithMaxAC != null ) { attributesWithMaxAC.put(setKey, vcWithMaxAC.getSource()); } + if( mergeInfoWithMaxAC && vcWithMaxAC != null ) { + attributesWithMaxAC.put(setKey, setValue); + } } } @@ -735,7 +700,7 @@ public class VariantContextUtils { return true; } - public static VariantContext createVariantContextWithTrimmedAlleles(VariantContext inputVC) { + private static VariantContext createVariantContextWithTrimmedAlleles(VariantContext inputVC) { // see if we need to trim common reference base from all alleles boolean trimVC; @@ -746,7 +711,7 @@ public class VariantContextUtils { else if (refAllele.isNull()) trimVC = false; else { - trimVC = (AbstractVCFCodec.computeForwardClipping(inputVC.getAlternateAlleles(), (byte)inputVC.getReference().getDisplayString().charAt(0)) > 0); + trimVC = VCFAlleleClipper.shouldClipFirstBaseP(inputVC.getAlternateAlleles(), (byte) inputVC.getReference().getDisplayString().charAt(0)); } // nothing to do if we don't need to trim bases @@ -791,7 +756,7 @@ public class VariantContextUtils { else trimmedAlleles.add(Allele.NO_CALL); } - genotypes.add(Genotype.modifyAlleles(genotype, trimmedAlleles)); + genotypes.add(new GenotypeBuilder(genotype).alleles(trimmedAlleles).make()); } @@ -802,46 +767,6 @@ public class VariantContextUtils { return inputVC; } - public static VariantContext reverseTrimAlleles( final VariantContext inputVC ) { - // see if we need to trim common reference base from all alleles - - final int trimExtent = AbstractVCFCodec.computeReverseClipping(inputVC.getAlleles(), inputVC.getReference().getDisplayString().getBytes(), 0, true, -1); - if ( trimExtent <= 0 || inputVC.getAlleles().size() <= 1 ) - return inputVC; - - final List alleles = new ArrayList(); - final GenotypesContext genotypes = GenotypesContext.create(); - final Map originalToTrimmedAlleleMap = new HashMap(); - - for (final Allele a : inputVC.getAlleles()) { - if (a.isSymbolic()) { - alleles.add(a); - originalToTrimmedAlleleMap.put(a, a); - } else { - // get bases for current allele and create a new one with trimmed bases - final byte[] newBases = Arrays.copyOfRange(a.getBases(), 0, a.length()-trimExtent); - final Allele trimmedAllele = Allele.create(newBases, a.isReference()); - alleles.add(trimmedAllele); - originalToTrimmedAlleleMap.put(a, trimmedAllele); - } - } - - // now we can recreate new genotypes with trimmed alleles - for ( final Genotype genotype : inputVC.getGenotypes() ) { - final List originalAlleles = genotype.getAlleles(); - final List trimmedAlleles = new ArrayList(); - for ( final Allele a : originalAlleles ) { - if ( a.isCalled() ) - trimmedAlleles.add(originalToTrimmedAlleleMap.get(a)); - else - trimmedAlleles.add(Allele.NO_CALL); - } - genotypes.add(Genotype.modifyAlleles(genotype, trimmedAlleles)); - } - - return new VariantContextBuilder(inputVC).stop(inputVC.getStart() + alleles.get(0).length() + (inputVC.isMixed() ? -1 : 0)).alleles(alleles).genotypes(genotypes).make(); - } - public static GenotypesContext stripPLs(GenotypesContext genotypes) { GenotypesContext newGs = GenotypesContext.create(genotypes.size()); @@ -1031,7 +956,7 @@ public class VariantContextUtils { if ( uniqifySamples || alleleMapping.needsRemapping() ) { final List alleles = alleleMapping.needsRemapping() ? alleleMapping.remap(g.getAlleles()) : g.getAlleles(); - newG = new Genotype(name, alleles, g.getLog10PError(), g.getFilters(), g.getAttributes(), g.isPhased()); + newG = new GenotypeBuilder(g).name(name).alleles(alleles).make(); } mergedGenotypes.add(newG); @@ -1071,7 +996,7 @@ public class VariantContextUtils { newAllele = Allele.NO_CALL; newAlleles.add(newAllele); } - newGenotypes.add(Genotype.modifyAlleles(genotype, newAlleles)); + newGenotypes.add(new GenotypeBuilder(genotype).alleles(newAlleles).make()); } return new VariantContextBuilder(vc).alleles(alleleMap.values()).genotypes(newGenotypes).make(); @@ -1084,11 +1009,11 @@ public class VariantContextUtils { GenotypesContext newGenotypes = GenotypesContext.create(vc.getNSamples()); for ( final Genotype genotype : vc.getGenotypes() ) { Map attrs = new HashMap(); - for ( Map.Entry attr : genotype.getAttributes().entrySet() ) { + for ( Map.Entry attr : genotype.getExtendedAttributes().entrySet() ) { if ( allowedAttributes.contains(attr.getKey()) ) attrs.put(attr.getKey(), attr.getValue()); } - newGenotypes.add(Genotype.modifyAttributes(genotype, attrs)); + newGenotypes.add(new GenotypeBuilder(genotype).attributes(attrs).make()); } return new VariantContextBuilder(vc).genotypes(newGenotypes).make(); @@ -1191,8 +1116,8 @@ public class VariantContextUtils { altAlleleIndexToUse[i] = true; } - // calculateNumLikelihoods takes total # of alleles. Use default # of chromosomes (ploidy) = 2 - final int numLikelihoods = GenotypeLikelihoods.calculateNumLikelihoods(1+numOriginalAltAlleles, DEFAULT_PLOIDY); + // numLikelihoods takes total # of alleles. Use default # of chromosomes (ploidy) = 2 + final int numLikelihoods = GenotypeLikelihoods.numLikelihoods(1 + numOriginalAltAlleles, DEFAULT_PLOIDY); for ( int PLindex = 0; PLindex < numLikelihoods; PLindex++ ) { final GenotypeLikelihoods.GenotypeLikelihoodsAllelePair alleles = GenotypeLikelihoods.getAllelePair(PLindex); // consider this entry only if both of the alleles are good @@ -1205,7 +1130,7 @@ public class VariantContextUtils { for ( int k = 0; k < oldGTs.size(); k++ ) { final Genotype g = oldGTs.get(sampleIndices.get(k)); if ( !g.hasLikelihoods() ) { - newGTs.add(new Genotype(g.getSampleName(), NO_CALL_ALLELES, Genotype.NO_LOG10_PERROR, null, null, false)); + newGTs.add(GenotypeBuilder.create(g.getSampleName(), NO_CALL_ALLELES)); continue; } @@ -1226,51 +1151,35 @@ public class VariantContextUtils { // if there is no mass on the (new) likelihoods, then just no-call the sample if ( MathUtils.sum(newLikelihoods) > SUM_GL_THRESH_NOCALL ) { - newGTs.add(new Genotype(g.getSampleName(), NO_CALL_ALLELES, Genotype.NO_LOG10_PERROR, null, null, false)); + newGTs.add(GenotypeBuilder.create(g.getSampleName(), NO_CALL_ALLELES)); } else { - Map attrs = new HashMap(g.getAttributes()); + final GenotypeBuilder gb = new GenotypeBuilder(g); + if ( numNewAltAlleles == 0 ) - attrs.remove(VCFConstants.PHRED_GENOTYPE_LIKELIHOODS_KEY); + gb.noPL(); else - attrs.put(VCFConstants.PHRED_GENOTYPE_LIKELIHOODS_KEY, GenotypeLikelihoods.fromLog10Likelihoods(newLikelihoods)); + gb.PL(newLikelihoods); // if we weren't asked to assign a genotype, then just no-call the sample - if ( !assignGenotypes || MathUtils.sum(newLikelihoods) > SUM_GL_THRESH_NOCALL ) - newGTs.add(new Genotype(g.getSampleName(), NO_CALL_ALLELES, Genotype.NO_LOG10_PERROR, null, attrs, false)); - else - newGTs.add(assignDiploidGenotype(g, newLikelihoods, allelesToUse, attrs)); + if ( !assignGenotypes || MathUtils.sum(newLikelihoods) > SUM_GL_THRESH_NOCALL ) { + gb.alleles(NO_CALL_ALLELES); + } + else { + // find the genotype with maximum likelihoods + int PLindex = numNewAltAlleles == 0 ? 0 : MathUtils.maxElementIndex(newLikelihoods); + GenotypeLikelihoods.GenotypeLikelihoodsAllelePair alleles = GenotypeLikelihoods.getAllelePair(PLindex); + + gb.alleles(Arrays.asList(allelesToUse.get(alleles.alleleIndex1), allelesToUse.get(alleles.alleleIndex2))); + if ( numNewAltAlleles != 0 ) gb.log10PError(GenotypeLikelihoods.getGQLog10FromLikelihoods(PLindex, newLikelihoods)); + } + newGTs.add(gb.make()); } } return newGTs; } - /** - * Assign genotypes (GTs) to the samples in the Variant Context greedily based on the PLs - * - * @param originalGT the original genotype - * @param newLikelihoods the PL array - * @param allelesToUse the list of alleles to choose from (corresponding to the PLs) - * @param attrs the annotations to use when creating the genotype - * - * @return genotype - */ - private static Genotype assignDiploidGenotype(final Genotype originalGT, final double[] newLikelihoods, final List allelesToUse, final Map attrs) { - final int numNewAltAlleles = allelesToUse.size() - 1; - - // find the genotype with maximum likelihoods - int PLindex = numNewAltAlleles == 0 ? 0 : MathUtils.maxElementIndex(newLikelihoods); - GenotypeLikelihoods.GenotypeLikelihoodsAllelePair alleles = GenotypeLikelihoods.getAllelePair(PLindex); - - ArrayList myAlleles = new ArrayList(); - myAlleles.add(allelesToUse.get(alleles.alleleIndex1)); - myAlleles.add(allelesToUse.get(alleles.alleleIndex2)); - - final double qual = numNewAltAlleles == 0 ? Genotype.NO_LOG10_PERROR : GenotypeLikelihoods.getQualFromLikelihoods(PLindex, newLikelihoods); - return new Genotype(originalGT.getSampleName(), myAlleles, qual, null, attrs, false); - } - /** * Returns true iff VC is an non-complex indel where every allele represents an expansion or * contraction of a series of identical bases in the reference. @@ -1313,6 +1222,127 @@ public class VariantContextUtils { return true; } + /** + * + * @param vc + * @param refBasesStartingAtVCWithPad + * @return + */ + @Requires({"vc != null", "refBasesStartingAtVCWithPad != null && refBasesStartingAtVCWithPad.length > 0"}) + public static Pair,byte[]> getNumTandemRepeatUnits(final VariantContext vc, final byte[] refBasesStartingAtVCWithPad) { + final boolean VERBOSE = false; + final String refBasesStartingAtVCWithoutPad = new String(refBasesStartingAtVCWithPad).substring(1); + if ( ! vc.isIndel() ) // only indels are tandem repeats + return null; + + final Allele ref = vc.getReference(); + + byte[] repeatUnit = null; + final ArrayList lengths = new ArrayList(); + + for ( final Allele allele : vc.getAlternateAlleles() ) { + Pair result = getNumTandemRepeatUnits(ref.getBases(), allele.getBases(), refBasesStartingAtVCWithoutPad.getBytes()); + + final int[] repetitionCount = result.first; + // repetition count = 0 means allele is not a tandem expansion of context + if (repetitionCount[0] == 0 || repetitionCount[1] == 0) + return null; + + if (lengths.size() == 0) { + lengths.add(repetitionCount[0]); // add ref allele length only once + } + lengths.add(repetitionCount[1]); // add this alt allele's length + + repeatUnit = result.second; + if (VERBOSE) { + System.out.println("RefContext:"+refBasesStartingAtVCWithoutPad); + System.out.println("Ref:"+ref.toString()+" Count:" + String.valueOf(repetitionCount[0])); + System.out.println("Allele:"+allele.toString()+" Count:" + String.valueOf(repetitionCount[1])); + System.out.println("RU:"+new String(repeatUnit)); + } + } + + return new Pair, byte[]>(lengths,repeatUnit); + } + + protected static Pair getNumTandemRepeatUnits(final byte[] refBases, final byte[] altBases, final byte[] remainingRefContext) { + /* we can't exactly apply same logic as in basesAreRepeated() to compute tandem unit and number of repeated units. + Consider case where ref =ATATAT and we have an insertion of ATAT. Natural description is (AT)3 -> (AT)5. + */ + + byte[] longB; + // find first repeat unit based on either ref or alt, whichever is longer + if (altBases.length > refBases.length) + longB = altBases; + else + longB = refBases; + + // see if non-null allele (either ref or alt, whichever is longer) can be decomposed into several identical tandem units + // for example, -*,CACA needs to first be decomposed into (CA)2 + final int repeatUnitLength = findRepeatedSubstring(longB); + final byte[] repeatUnit = Arrays.copyOf(longB, repeatUnitLength); + + final int[] repetitionCount = new int[2]; +// repetitionCount[0] = findNumberofRepetitions(repeatUnit, ArrayUtils.addAll(refBases, remainingRefContext)); +// repetitionCount[1] = findNumberofRepetitions(repeatUnit, ArrayUtils.addAll(altBases, remainingRefContext)); + int repetitionsInRef = findNumberofRepetitions(repeatUnit,refBases); + repetitionCount[0] = findNumberofRepetitions(repeatUnit, ArrayUtils.addAll(refBases, remainingRefContext))-repetitionsInRef; + repetitionCount[1] = findNumberofRepetitions(repeatUnit, ArrayUtils.addAll(altBases, remainingRefContext))-repetitionsInRef; + + return new Pair(repetitionCount, repeatUnit); + + } + + /** + * Find out if a string can be represented as a tandem number of substrings. + * For example ACTACT is a 2-tandem of ACT, + * but ACTACA is not. + * + * @param bases String to be tested + * @return Length of repeat unit, if string can be represented as tandem of substring (if it can't + * be represented as one, it will be just the length of the input string) + */ + protected static int findRepeatedSubstring(byte[] bases) { + + int repLength; + for (repLength=1; repLength <=bases.length; repLength++) { + final byte[] candidateRepeatUnit = Arrays.copyOf(bases,repLength); + boolean allBasesMatch = true; + for (int start = repLength; start < bases.length; start += repLength ) { + // check that remaining of string is exactly equal to repeat unit + final byte[] basePiece = Arrays.copyOfRange(bases,start,start+candidateRepeatUnit.length); + if (!Arrays.equals(candidateRepeatUnit, basePiece)) { + allBasesMatch = false; + break; + } + } + if (allBasesMatch) + return repLength; + } + + return repLength; + } + + /** + * Helper routine that finds number of repetitions a string consists of. + * For example, for string ATAT and repeat unit AT, number of repetitions = 2 + * @param repeatUnit Substring + * @param testString String to test + * @return Number of repetitions (0 if testString is not a concatenation of n repeatUnit's + */ + protected static int findNumberofRepetitions(byte[] repeatUnit, byte[] testString) { + int numRepeats = 0; + for (int start = 0; start < testString.length; start += repeatUnit.length) { + int end = start + repeatUnit.length; + byte[] unit = Arrays.copyOfRange(testString,start, end); + if(Arrays.equals(unit,repeatUnit)) + numRepeats++; + else + return numRepeats; + } + return numRepeats; + } + /** * Helper function for isTandemRepeat that checks that allele matches somewhere on the reference * @param ref @@ -1346,4 +1376,33 @@ public class VariantContextUtils { return true; // we passed all tests, we matched } + + /** + * Compute the end position for this VariantContext from the alleles themselves + * + * In the trivial case this is a single BP event and end = start (open intervals) + * In general the end is start + ref length - 1, handling the case where ref length == 0 + * However, if alleles contains a symbolic allele then we use endForSymbolicAllele in all cases + * + * @param alleles the list of alleles to consider. The reference allele must be the first one + * @param start the known start position of this event + * @param endForSymbolicAlleles the end position to use if any of the alleles is symbolic. Can be -1 + * if no is expected but will throw an error if one is found + * @return this builder + */ + @Requires({"! alleles.isEmpty()", "start > 0", "endForSymbolicAlleles == -1 || endForSymbolicAlleles > 0" }) + public static int computeEndFromAlleles(final List alleles, final int start, final int endForSymbolicAlleles) { + final Allele ref = alleles.get(0); + + if ( ref.isNonReference() ) + throw new ReviewedStingException("computeEndFromAlleles requires first allele to be reference"); + + if ( VariantContext.hasSymbolicAlleles(alleles) ) { + if ( endForSymbolicAlleles == -1 ) + throw new ReviewedStingException("computeEndFromAlleles found a symbolic allele but endForSymbolicAlleles was provided"); + return endForSymbolicAlleles; + } else { + return start + Math.max(ref.length() - 1, 0); + } + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantJEXLContext.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantJEXLContext.java index ccce21f52..913615a84 100644 --- a/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantJEXLContext.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantJEXLContext.java @@ -192,8 +192,8 @@ class JEXLMap implements Map { infoMap.put("isHomRef", g.isHomRef() ? "1" : "0"); infoMap.put("isHet", g.isHet() ? "1" : "0"); infoMap.put("isHomVar", g.isHomVar() ? "1" : "0"); - infoMap.put(VCFConstants.GENOTYPE_QUALITY_KEY, new Double(g.getPhredScaledQual())); - for ( Map.Entry e : g.getAttributes().entrySet() ) { + infoMap.put(VCFConstants.GENOTYPE_QUALITY_KEY, g.getGQ()); + for ( Map.Entry e : g.getExtendedAttributes().entrySet() ) { if ( e.getValue() != null && !e.getValue().equals(VCFConstants.MISSING_VALUE_v4) ) infoMap.put(e.getKey(), e.getValue()); } @@ -264,9 +264,16 @@ class JEXLMap implements Map { // if the context is null, we need to create it to evaluate the JEXL expression if (this.jContext == null) createContext(); try { - jexl.put (exp, (Boolean) exp.exp.evaluate(jContext)); + final Boolean value = (Boolean) exp.exp.evaluate(jContext); + // treat errors as no match + jexl.put(exp, value == null ? false : value); } catch (Exception e) { - throw new UserException.CommandLineException(String.format("Invalid JEXL expression detected for %s with message %s", exp.name, e.getMessage())); + // if exception happens because variable is undefined (i.e. field in expression is not present), evaluate to FALSE + // todo - might be safer if we explicitly checked for an exception type, but Apache's API doesn't seem to have that ability + if (e.getMessage().contains("undefined variable")) + jexl.put(exp,false); + else + throw new UserException.CommandLineException(String.format("Invalid JEXL expression detected for %s with message %s", exp.name, e.getMessage())); } } diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2Encoder.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2Encoder.java new file mode 100644 index 000000000..2c1d99546 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2Encoder.java @@ -0,0 +1,276 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext.writer; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Type; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Utils; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.io.ByteArrayOutputStream; +import java.io.IOException; +import java.util.*; + +/** + * See #BCFWriter for documentation on this classes role in encoding BCF2 files + * + * @author Mark DePristo + * @since 06/12 + */ +public final class BCF2Encoder { + // TODO -- increase default size? + public static final int WRITE_BUFFER_INITIAL_SIZE = 16384; + private ByteArrayOutputStream encodeStream = new ByteArrayOutputStream(WRITE_BUFFER_INITIAL_SIZE); + + // -------------------------------------------------------------------------------- + // + // Functions to return the data being encoded here + // + // -------------------------------------------------------------------------------- + + @Ensures("result != null") + public byte[] getRecordBytes() { + byte[] bytes = encodeStream.toByteArray(); + encodeStream.reset(); + return bytes; + } + + // -------------------------------------------------------------------------------- + // + // Writing typed values (have type byte) + // + // -------------------------------------------------------------------------------- + + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeTypedMissing(final BCF2Type type) throws IOException { + encodeType(0, type); + } + + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeTyped(final Object value, final BCF2Type type) throws IOException { + if ( value == null ) + encodeTypedMissing(type); + else { + switch ( type ) { + case INT8: + case INT16: + case INT32: encodeTypedInt((Integer)value, type); break; + case FLOAT: encodeTypedFloat((Double) value); break; + case CHAR: encodeTypedString((String) value); break; + default: throw new ReviewedStingException("Illegal type encountered " + type); + } + } + } + + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeTypedInt(final int v) throws IOException { + final BCF2Type type = BCF2Utils.determineIntegerType(v); + encodeTypedInt(v, type); + } + + @Requires("type.isIntegerType()") + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeTypedInt(final int v, final BCF2Type type) throws IOException { + encodeType(1, type); + encodeRawInt(v, type); + } + + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeTypedString(final String s) throws IOException { + encodeTypedString(s.getBytes()); + } + + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeTypedString(final byte[] s) throws IOException { + if ( s == null ) + encodeType(0, BCF2Type.CHAR); + else { + encodeType(s.length, BCF2Type.CHAR); + for ( int i = 0; i < s.length; i++ ) { + encodeRawChar(s[i]); + } + } + } + + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeTypedFloat(final double d) throws IOException { + encodeType(1, BCF2Type.FLOAT); + encodeRawFloat(d); + } + + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeTyped(List v, final BCF2Type type) throws IOException { + if ( type == BCF2Type.CHAR && v.size() != 0 ) { + final String s = v.size() > 1 ? BCF2Utils.collapseStringList((List) v) : (String)v.get(0); + v = stringToBytes(s); + } + + encodeType(v.size(), type); + encodeRawValues(v, type); + } + + // -------------------------------------------------------------------------------- + // + // Writing raw values (don't have a type byte) + // + // -------------------------------------------------------------------------------- + + public final void encodeRawValues(final Collection v, final BCF2Type type) throws IOException { + for ( final T v1 : v ) { + encodeRawValue(v1, type); + } + } + + public final void encodeRawValue(final T value, final BCF2Type type) throws IOException { + try { + if ( value == type.getMissingJavaValue() ) + encodeRawMissingValue(type); + else { + switch (type) { + case INT8: + case INT16: + case INT32: encodeRawBytes((Integer) value, type); break; + case FLOAT: encodeRawFloat((Double) value); break; + case CHAR: encodeRawChar((Byte) value); break; + default: throw new ReviewedStingException("Illegal type encountered " + type); + } + } + } catch ( ClassCastException e ) { + throw new ClassCastException("BUG: invalid type cast to " + type + " from " + value); + } + } + + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeRawMissingValue(final BCF2Type type) throws IOException { + encodeRawBytes(type.getMissingBytes(), type); + } + + @Requires("size >= 0") + public final void encodeRawMissingValues(final int size, final BCF2Type type) throws IOException { + for ( int i = 0; i < size; i++ ) + encodeRawMissingValue(type); + } + + // -------------------------------------------------------------------------------- + // + // low-level encoders + // + // -------------------------------------------------------------------------------- + + public final void encodeRawChar(final byte c) throws IOException { + encodeStream.write(c); + } + + public final void encodeRawFloat(final double value) throws IOException { + encodeRawBytes(Float.floatToIntBits((float) value), BCF2Type.FLOAT); + } + + @Requires("size >= 0") + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeType(final int size, final BCF2Type type) throws IOException { + final byte typeByte = BCF2Utils.encodeTypeDescriptor(size, type); + encodeStream.write(typeByte); + if ( BCF2Utils.willOverflow(size) ) { + // write in the overflow size + encodeTypedInt(size); + } + } + + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeRawInt(final int value, final BCF2Type type) throws IOException { + BCF2Utils.encodeRawBytes(value, type, encodeStream); + } + + @Ensures("encodeStream.size() > old(encodeStream.size())") + public final void encodeRawBytes(final int value, final BCF2Type type) throws IOException { + BCF2Utils.encodeRawBytes(value, type, encodeStream); + } + + // -------------------------------------------------------------------------------- + // + // utility functions + // + // -------------------------------------------------------------------------------- + + @Requires({"s != null", "sizeToWrite >= 0"}) + public void encodeRawString(final String s, final int sizeToWrite) throws IOException { + final byte[] bytes = s.getBytes(); + for ( int i = 0; i < sizeToWrite; i++ ) + if ( i < bytes.length ) + encodeRawChar(bytes[i]); + else + encodeRawMissingValue(BCF2Type.CHAR); + } + + /** + * Totally generic encoder that examines o, determines the best way to encode it, and encodes it + * + * This method is incredibly slow, but it's only used for UnitTests so it doesn't matter + * + * @param o + * @return + */ + @Requires("o != null") + public final BCF2Type encode(final Object o) throws IOException { + if ( o == null ) throw new ReviewedStingException("Generic encode cannot deal with null values"); + + if ( o instanceof List ) { + final BCF2Type type = determineBCFType(((List) o).get(0)); + encodeTyped((List) o, type); + return type; + } else { + final BCF2Type type = determineBCFType(o); + encodeTyped(o, type); + return type; + } + } + + @Requires("arg != null") + private final BCF2Type determineBCFType(final Object arg) { + final Object toType = arg instanceof List ? ((List)arg).get(0) : arg; + + if ( toType instanceof Integer ) + return BCF2Utils.determineIntegerType((Integer) toType); + else if ( toType instanceof String ) + return BCF2Type.CHAR; + else if ( toType instanceof Double ) + return BCF2Type.FLOAT; + else + throw new ReviewedStingException("No native encoding for Object of type " + arg.getClass().getSimpleName()); + } + + private final List stringToBytes(final String v) throws IOException { + if ( v == null || v.equals("") ) + return Collections.emptyList(); + else { + // TODO -- this needs to be optimized away for efficiency + final byte[] bytes = v.getBytes(); + final List l = new ArrayList(bytes.length); + for ( int i = 0; i < bytes.length; i++) l.add(bytes[i]); + return l; + } + } +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2FieldEncoder.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2FieldEncoder.java new file mode 100644 index 000000000..ddeb4d284 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2FieldEncoder.java @@ -0,0 +1,519 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext.writer; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Invariant; +import com.google.java.contract.Requires; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Type; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Utils; +import org.broadinstitute.sting.utils.codecs.vcf.VCFCompoundHeaderLine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; + +import java.io.IOException; +import java.util.Collections; +import java.util.List; +import java.util.Map; + +/** + * See #BCFWriter for documentation on this classes role in encoding BCF2 files + * + * @author Mark DePristo + * @since 06/12 + */ +@Invariant({ + "headerLine != null", + "dictionaryOffsetType.isIntegerType()", + "dictionaryOffset >= 0" +}) +public abstract class BCF2FieldEncoder { + /** + * The header line describing the field we will encode values of + */ + final VCFCompoundHeaderLine headerLine; + + /** + * The BCF2 type we'll use to encoder this field, if it can be determined statically. + * If not, this variable must be null + */ + final BCF2Type staticType; + + /** + * The integer offset into the strings map of the BCF2 file corresponding to this + * field. + */ + final int dictionaryOffset; + + /** + * The integer type we use to encode our dictionary offset in the BCF2 file + */ + final BCF2Type dictionaryOffsetType; + + // ---------------------------------------------------------------------- + // + // Constructor + // + // ---------------------------------------------------------------------- + + @Requires({"headerLine != null", "dict != null"}) + private BCF2FieldEncoder(final VCFCompoundHeaderLine headerLine, final Map dict, final BCF2Type staticType) { + this.headerLine = headerLine; + this.staticType = staticType; + + final Integer offset = dict.get(getField()); + if ( offset == null ) throw new ReviewedStingException("Format error: could not find string " + getField() + " in header as required by BCF"); + this.dictionaryOffset = offset; + dictionaryOffsetType = BCF2Utils.determineIntegerType(offset); + } + + // ---------------------------------------------------------------------- + // + // Basic accessors + // + // ---------------------------------------------------------------------- + + @Ensures("result != null") + public final String getField() { return headerLine.getID(); } + + /** + * Write the field key (dictionary offset and type) into the BCF2Encoder stream + * + * @param encoder where we write our dictionary offset + * @throws IOException + */ + @Requires("encoder != null") + public final void writeFieldKey(final BCF2Encoder encoder) throws IOException { + encoder.encodeTypedInt(dictionaryOffset, dictionaryOffsetType); + } + + @Override + public String toString() { + return "BCF2FieldEncoder for " + getField() + " with count " + getCountType() + " encoded with " + getClass().getSimpleName(); + } + + // ---------------------------------------------------------------------- + // + // methods to determine the number of encoded elements + // + // ---------------------------------------------------------------------- + + @Ensures("result != null") + protected final VCFHeaderLineCount getCountType() { + return headerLine.getCountType(); + } + + /** + * True if this field has a constant, fixed number of elements (such as 1 for an atomic integer) + * + * @return + */ + @Ensures("result != (hasValueDeterminedNumElements() || hasContextDeterminedNumElements())") + public boolean hasConstantNumElements() { + return getCountType() == VCFHeaderLineCount.INTEGER; + } + + /** + * True if the only way to determine how many elements this field contains is by + * inspecting the actual value directly, such as when the number of elements + * is a variable length list per site or per genotype. + * @return + */ + @Ensures("result != (hasConstantNumElements() || hasContextDeterminedNumElements())") + public boolean hasValueDeterminedNumElements() { + return getCountType() == VCFHeaderLineCount.UNBOUNDED; + } + + /** + * True if this field has a non-fixed number of elements that depends only on the properties + * of the current VariantContext, such as one value per Allele or per genotype configuration. + * + * @return + */ + @Ensures("result != (hasValueDeterminedNumElements() || hasConstantNumElements())") + public boolean hasContextDeterminedNumElements() { + return ! hasConstantNumElements() && ! hasValueDeterminedNumElements(); + } + + /** + * Get the number of elements, assuming this field has a constant number of elements. + * @return + */ + @Requires("hasConstantNumElements()") + @Ensures("result >= 0") + public int numElements() { + return headerLine.getCount(); + } + + /** + * Get the number of elements by looking at the actual value provided + * @return + */ + @Requires("hasValueDeterminedNumElements()") + @Ensures("result >= 0") + public int numElements(final Object value) { + return numElementsFromValue(value); + } + + /** + * Get the number of elements, assuming this field has context-determined number of elements. + * @return + */ + @Requires("hasContextDeterminedNumElements()") + @Ensures("result >= 0") + public int numElements(final VariantContext vc) { + return headerLine.getCount(vc); + } + + /** + * A convenience access for the number of elements, returning + * the number of encoded elements, either from the fixed number + * it has, from the VC, or from the value itself. + * @param vc + * @param value + * @return + */ + @Ensures("result >= 0") + public final int numElements(final VariantContext vc, final Object value) { + if ( hasConstantNumElements() ) return numElements(); + else if ( hasContextDeterminedNumElements() ) return numElements(vc); + else return numElements(value); + } + + /** + * Given a value, return the number of elements we will encode for it. + * + * Assumes the value is encoded as a List + * + * @param value + * @return + */ + @Requires("hasValueDeterminedNumElements()") + @Ensures("result >= 0") + protected int numElementsFromValue(final Object value) { + if ( value == null ) return 0; + else if ( value instanceof List ) return ((List) value).size(); + else return 1; + } + + // ---------------------------------------------------------------------- + // + // methods to determine the BCF2 type of the encoded values + // + // ---------------------------------------------------------------------- + + /** + * Is the BCF2 type of this field static, or does it have to be determine from + * the actual field value itself? + * @return + */ + @Ensures("result || isDynamicallyTyped()") + public final boolean isStaticallyTyped() { return ! isDynamicallyTyped(); } + + /** + * Is the BCF2 type of this field static, or does it have to be determine from + * the actual field value itself? + * @return + */ + @Ensures("result || isStaticallyTyped()") + public final boolean isDynamicallyTyped() { return staticType == null; } + + /** + * Get the BCF2 type for this field, either from the static type of the + * field itself or by inspecting the value itself. + * + * @return + */ + public final BCF2Type getType(final Object value) { + return isDynamicallyTyped() ? getDynamicType(value) : getStaticType(); + } + + @Requires("isStaticallyTyped()") + @Ensures("result != null") + public final BCF2Type getStaticType() { + return staticType; + } + + @Requires("isDynamicallyTyped()") + @Ensures("result != null") + public BCF2Type getDynamicType(final Object value) { + throw new ReviewedStingException("BUG: cannot get dynamic type for statically typed BCF2 field " + getField()); + } + + // ---------------------------------------------------------------------- + // + // methods to encode values, including the key abstract method + // + // ---------------------------------------------------------------------- + + /** + * Key abstract method that should encode a value of the given type into the encoder. + * + * Value will be of a type appropriate to the underlying encoder. If the genotype field is represented as + * an int[], this will be value, and the encoder needs to handle encoding all of the values in the int[]. + * + * The argument should be used, not the getType() method in the superclass as an outer loop might have + * decided a more general type (int16) to use, even through this encoder could have been done with int8. + * + * If minValues > 0, then encodeValue must write in at least minValues items from value. If value is atomic, + * this means that minValues - 1 MISSING values should be added to the encoder. If minValues is a collection + * type (int[]) then minValues - values.length should be added. This argument is intended to handle padding + * of values in genotype fields. + * + * @param encoder + * @param value + * @param type + * @param minValues + * @throws IOException + */ + @Requires({"encoder != null", "isDynamicallyTyped() || type == getStaticType()", "minValues >= 0"}) + public abstract void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException; + + // ---------------------------------------------------------------------- + // + // Subclass to encode Strings + // + // ---------------------------------------------------------------------- + + public static class StringOrCharacter extends BCF2FieldEncoder { + public StringOrCharacter(final VCFCompoundHeaderLine headerLine, final Map dict ) { + super(headerLine, dict, BCF2Type.CHAR); + } + + @Override + public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { + final String s = javaStringToBCF2String(value); + encoder.encodeRawString(s, Math.max(s.length(), minValues)); + } + + // + // Regardless of what the header says, BCF2 strings and characters are always encoded + // as arrays of CHAR type, which has a variable number of elements depending on the + // exact string being encoded + // + @Override public boolean hasConstantNumElements() { return false; } + @Override public boolean hasContextDeterminedNumElements() { return false; } + @Override public boolean hasValueDeterminedNumElements() { return true; } + @Override protected int numElementsFromValue(final Object value) { + return value == null ? 0 : javaStringToBCF2String(value).length(); + } + + /** + * Recode the incoming object to a String, compacting it into a + * BCF2 string if the value is a list. + * + * @param value a String or List to encode, or null + * @return a non-null string to encode + */ + @Ensures("result != null") + private String javaStringToBCF2String(final Object value) { + if ( value == null ) + return ""; + else if (value instanceof List) { + final List l = (List)value; + if ( l.isEmpty() ) return ""; + else if ( l.size() == 1 ) return (String)l.get(0); + else return BCF2Utils.collapseStringList(l); + } else + return (String)value; + } + } + + // ---------------------------------------------------------------------- + // + // Subclass to encode FLAG + // + // ---------------------------------------------------------------------- + + public static class Flag extends BCF2FieldEncoder { + public Flag(final VCFCompoundHeaderLine headerLine, final Map dict ) { + super(headerLine, dict, BCF2Type.INT8); + if ( ! headerLine.isFixedCount() || headerLine.getCount() != 0 ) + throw new ReviewedStingException("Flag encoder only suppports atomic flags for field " + getField()); + } + + @Override + public int numElements() { + return 1; // the header says 0 but we will write 1 value + } + + @Override + @Requires({"minValues <= 1", "value != null", "value instanceof Boolean", "((Boolean)value) == true"}) + public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { + encoder.encodeRawBytes(1, getStaticType()); + } + } + + // ---------------------------------------------------------------------- + // + // Subclass to encode FLOAT + // + // ---------------------------------------------------------------------- + + public static class Float extends BCF2FieldEncoder { + final boolean isAtomic; + + public Float(final VCFCompoundHeaderLine headerLine, final Map dict ) { + super(headerLine, dict, BCF2Type.FLOAT); + isAtomic = hasConstantNumElements() && numElements() == 1; + } + + @Override + public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { + int count = 0; + // TODO -- can be restructured to avoid toList operation + if ( isAtomic ) { + // fast path for fields with 1 fixed float value + if ( value != null ) { + encoder.encodeRawFloat((Double)value); + count++; + } + } else { + // handle generic case + final List doubles = toList(Double.class, value); + for ( final Double d : doubles ) { + if ( d != null ) { // necessary because .,. => [null, null] in VC + encoder.encodeRawFloat(d); + count++; + } + } + } + for ( ; count < minValues; count++ ) encoder.encodeRawMissingValue(type); + } + } + + // ---------------------------------------------------------------------- + // + // Subclass to encode int[] + // + // ---------------------------------------------------------------------- + + public static class IntArray extends BCF2FieldEncoder { + public IntArray(final VCFCompoundHeaderLine headerLine, final Map dict ) { + super(headerLine, dict, null); + } + + @Override + protected int numElementsFromValue(final Object value) { + return value == null ? 0 : ((int[])value).length; + } + + @Override + public BCF2Type getDynamicType(final Object value) { + return value == null ? BCF2Type.INT8 : BCF2Utils.determineIntegerType((int[])value); + } + + @Requires("value == null || ((int[])value).length <= minValues") + @Override + public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { + int count = 0; + if ( value != null ) { + for ( final int i : (int[])value ) { + encoder.encodeRawInt(i, type); + count++; + } + } + for ( ; count < minValues; count++ ) encoder.encodeRawMissingValue(type); + } + } + + // ---------------------------------------------------------------------- + // + // Subclass to encode List + // + // ---------------------------------------------------------------------- + + /** + * Specialized int encoder for atomic (non-list) integers + */ + public static class AtomicInt extends BCF2FieldEncoder { + public AtomicInt(final VCFCompoundHeaderLine headerLine, final Map dict ) { + super(headerLine, dict, null); + } + + @Override + public BCF2Type getDynamicType(final Object value) { + return value == null ? BCF2Type.INT8 : BCF2Utils.determineIntegerType((Integer)value); + } + + @Override + public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { + int count = 0; + if ( value != null ) { + encoder.encodeRawInt((Integer)value, type); + count++; + } + for ( ; count < minValues; count++ ) encoder.encodeRawMissingValue(type); + } + } + + public static class GenericInts extends BCF2FieldEncoder { + public GenericInts(final VCFCompoundHeaderLine headerLine, final Map dict ) { + super(headerLine, dict, null); + } + + @Override + public BCF2Type getDynamicType(final Object value) { + return value == null ? BCF2Type.INT8 : BCF2Utils.determineIntegerType(toList(Integer.class, value)); + } + + @Override + public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { + int count = 0; + for ( final Integer i : toList(Integer.class, value) ) { + if ( i != null ) { // necessary because .,. => [null, null] in VC + encoder.encodeRawInt(i, type); + count++; + } + } + for ( ; count < minValues; count++ ) encoder.encodeRawMissingValue(type); + } + } + + + // ---------------------------------------------------------------------- + // + // Helper methods + // + // ---------------------------------------------------------------------- + + /** + * Helper function that takes an object and returns a list representation + * of it: + * + * o == null => [] + * o is a list => o + * else => [o] + * + * @param o + * @return + */ + private final static List toList(final Class c, final Object o) { + if ( o == null ) return Collections.emptyList(); + else if ( o instanceof List ) return (List)o; + else return Collections.singletonList((T)o); + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2FieldWriter.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2FieldWriter.java new file mode 100644 index 000000000..5b81e7117 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2FieldWriter.java @@ -0,0 +1,341 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext.writer; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Type; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Utils; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.variantcontext.Allele; +import org.broadinstitute.sting.utils.variantcontext.Genotype; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; + +import java.io.IOException; +import java.util.ArrayList; +import java.util.HashMap; +import java.util.List; +import java.util.Map; + +/** + * See #BCFWriter for documentation on this classes role in encoding BCF2 files + * + * @author Mark DePristo + * @since 06/12 + */ +public abstract class BCF2FieldWriter { + private final VCFHeader header; + private final BCF2FieldEncoder fieldEncoder; + + @Requires({"header != null", "fieldEncoder != null"}) + protected BCF2FieldWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { + this.header = header; + this.fieldEncoder = fieldEncoder; + } + + @Ensures("result != null") + protected VCFHeader getHeader() { return header; } + @Ensures("result != null") + protected BCF2FieldEncoder getFieldEncoder() { + return fieldEncoder; + } + @Ensures("result != null") + protected String getField() { return getFieldEncoder().getField(); } + + @Requires("vc != null") + public void start(final BCF2Encoder encoder, final VariantContext vc) throws IOException { + fieldEncoder.writeFieldKey(encoder); + } + + public void done(final BCF2Encoder encoder, final VariantContext vc) throws IOException { } // TODO -- overload done so that we null out values and test for correctness + + @Override + public String toString() { + return "BCF2FieldWriter " + getClass().getSimpleName() + " with encoder " + getFieldEncoder(); + } + + // -------------------------------------------------------------------------------- + // + // Sites writers + // + // -------------------------------------------------------------------------------- + + public static abstract class SiteWriter extends BCF2FieldWriter { + protected SiteWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { + super(header, fieldEncoder); + } + + public abstract void site(final BCF2Encoder encoder, final VariantContext vc) throws IOException; + } + + public static class GenericSiteWriter extends SiteWriter { + public GenericSiteWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { + super(header, fieldEncoder); + } + + @Override + public void site(final BCF2Encoder encoder, final VariantContext vc) throws IOException { + final Object rawValue = vc.getAttribute(getField(), null); + final BCF2Type type = getFieldEncoder().getType(rawValue); + if ( rawValue == null ) { + // the value is missing, just write in null + encoder.encodeType(0, type); + } else { + final int valueCount = getFieldEncoder().numElements(vc, rawValue); + encoder.encodeType(valueCount, type); + getFieldEncoder().encodeValue(encoder, rawValue, type, valueCount); + } + } + } + + // -------------------------------------------------------------------------------- + // + // Genotypes writers + // + // -------------------------------------------------------------------------------- + + public static abstract class GenotypesWriter extends BCF2FieldWriter { + int nValuesPerGenotype = -1; + BCF2Type encodingType = null; + + protected GenotypesWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { + super(header, fieldEncoder); + + if ( fieldEncoder.hasConstantNumElements() ) { + nValuesPerGenotype = getFieldEncoder().numElements(); + } + } + + @Override + @Requires({"encodingType != null", + "nValuesPerGenotype >= 0 || ! getFieldEncoder().hasConstantNumElements()"}) + @Ensures("nValuesPerGenotype >= 0") + public void start(final BCF2Encoder encoder, final VariantContext vc) throws IOException { + // writes the key information + super.start(encoder, vc); + + // only update if we need to + if ( ! getFieldEncoder().hasConstantNumElements() ) { + if ( getFieldEncoder().hasContextDeterminedNumElements() ) + // we are cheap -- just depends on genotype of allele counts + nValuesPerGenotype = getFieldEncoder().numElements(vc); + else + // we have to go fishing through the values themselves (expensive) + nValuesPerGenotype = computeMaxSizeOfGenotypeFieldFromValues(vc); + } + + encoder.encodeType(nValuesPerGenotype, encodingType); + } + + @Requires({"encodingType != null", "nValuesPerGenotype >= 0"}) + public void addGenotype(final BCF2Encoder encoder, final VariantContext vc, final Genotype g) throws IOException { + final Object fieldValue = g.getExtendedAttribute(getField(), null); + getFieldEncoder().encodeValue(encoder, fieldValue, encodingType, nValuesPerGenotype); + } + + @Ensures({"result >= 0"}) + protected int numElements(final VariantContext vc, final Genotype g) { + return getFieldEncoder().numElements(vc, g.getExtendedAttribute(getField())); + } + + @Ensures({"result >= 0"}) + private final int computeMaxSizeOfGenotypeFieldFromValues(final VariantContext vc) { + int size = -1; + + for ( final Genotype g : vc.getGenotypes() ) { + size = Math.max(size, numElements(vc, g)); + } + + return size; + } + } + + public static class StaticallyTypeGenotypesWriter extends GenotypesWriter { + public StaticallyTypeGenotypesWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { + super(header, fieldEncoder); + encodingType = getFieldEncoder().getStaticType(); + } + } + + public static class IntegerTypeGenotypesWriter extends GenotypesWriter { + public IntegerTypeGenotypesWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { + super(header, fieldEncoder); + } + + @Override + public void start(final BCF2Encoder encoder, final VariantContext vc) throws IOException { + // the only value that is dynamic are integers + final List values = new ArrayList(vc.getNSamples()); + for ( final Genotype g : vc.getGenotypes() ) { + for ( final Object i : BCF2Utils.toList(g.getExtendedAttribute(getField(), null)) ) { + if ( i != null ) values.add((Integer)i); // we know they are all integers + } + } + + encodingType = BCF2Utils.determineIntegerType(values); + super.start(encoder, vc); + } + } + + public static class IGFGenotypesWriter extends GenotypesWriter { + final IntGenotypeFieldAccessors.Accessor ige; + + public IGFGenotypesWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder, final IntGenotypeFieldAccessors.Accessor ige) { + super(header, fieldEncoder); + this.ige = ige; + + if ( ! (fieldEncoder instanceof BCF2FieldEncoder.IntArray) ) + throw new ReviewedStingException("BUG: IntGenotypesWriter requires IntArray encoder for field " + getField()); + } + + @Override + public void start(final BCF2Encoder encoder, final VariantContext vc) throws IOException { + // TODO + // TODO this piece of code consumes like 10% of the runtime alone because fo the vc.getGenotypes() iteration + // TODO + encodingType = BCF2Type.INT8; + for ( final Genotype g : vc.getGenotypes() ) { + final int[] pls = ige.getValues(g); + final BCF2Type plsType = getFieldEncoder().getType(pls); + encodingType = BCF2Utils.maxIntegerType(encodingType, plsType); + if ( encodingType == BCF2Type.INT32 ) + break; // stop early + } + + super.start(encoder, vc); + } + + @Override + public void addGenotype(final BCF2Encoder encoder, final VariantContext vc, final Genotype g) throws IOException { + getFieldEncoder().encodeValue(encoder, ige.getValues(g), encodingType, nValuesPerGenotype); + } + + @Override + protected int numElements(final VariantContext vc, final Genotype g) { + return ige.getSize(g); + } + } + + public static class FTGenotypesWriter extends StaticallyTypeGenotypesWriter { + public FTGenotypesWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { + super(header, fieldEncoder); + } + + public void addGenotype(final BCF2Encoder encoder, final VariantContext vc, final Genotype g) throws IOException { + final String fieldValue = g.getFilters(); + getFieldEncoder().encodeValue(encoder, fieldValue, encodingType, nValuesPerGenotype); + } + + @Override + protected int numElements(final VariantContext vc, final Genotype g) { + return getFieldEncoder().numElements(vc, g.getFilters()); + } + } + + public static class GTWriter extends GenotypesWriter { + final Map alleleMapForTriPlus = new HashMap(5); + Allele ref, alt1; + + public GTWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { + super(header, fieldEncoder); + } + + @Override + public void start(final BCF2Encoder encoder, final VariantContext vc) throws IOException { + if ( vc.getNAlleles() > BCF2Utils.MAX_ALLELES_IN_GENOTYPES ) + throw new ReviewedStingException("Current BCF2 encoder cannot handle sites " + + "with > " + BCF2Utils.MAX_ALLELES_IN_GENOTYPES + " alleles, but you have " + + vc.getNAlleles() + " at " + vc.getChr() + ":" + vc.getStart()); + + encodingType = BCF2Type.INT8; + buildAlleleMap(vc); + nValuesPerGenotype = vc.getMaxPloidy(); + + // deal with the case where we have no call everywhere, in which case we write out diploid + if ( nValuesPerGenotype == -1 ) + nValuesPerGenotype = 2; + + super.start(encoder, vc); + } + + @Override + public void addGenotype(final BCF2Encoder encoder, final VariantContext vc, final Genotype g) throws IOException { + final int samplePloidy = g.getPloidy(); + for ( int i = 0; i < nValuesPerGenotype; i++ ) { + if ( i < samplePloidy ) { + // we encode the actual allele + final Allele a = g.getAllele(i); + final int offset = getAlleleOffset(a); + final int encoded = ((offset+1) << 1) | (g.isPhased() ? 0x01 : 0x00); + encoder.encodeRawBytes(encoded, encodingType); + } else { + // we need to pad with missing as we have ploidy < max for this sample + encoder.encodeRawBytes(encodingType.getMissingBytes(), encodingType); + } + } + } + + /** + * Fast path code to determine the offset. + * + * Inline tests for == against ref (most common, first test) + * == alt1 (second most common, second test) + * == NO_CALL (third) + * and finally in the map from allele => offset for all alt 2+ alleles + * + * @param a the allele whose offset we wish to determine + * @return the offset (from 0) of the allele in the list of variant context alleles (-1 means NO_CALL) + */ + @Requires("a != null") + private final int getAlleleOffset(final Allele a) { + if ( a == ref ) return 0; + else if ( a == alt1 ) return 1; + else if ( a == Allele.NO_CALL ) return -1; + else { + final Integer o = alleleMapForTriPlus.get(a); + if ( o == null ) throw new ReviewedStingException("BUG: Couldn't find allele offset for allele " + a); + return o; + } + } + + private final void buildAlleleMap(final VariantContext vc) { + // these are fast path options to determine the offsets for + final int nAlleles = vc.getNAlleles(); + ref = vc.getReference(); + alt1 = nAlleles > 1 ? vc.getAlternateAllele(0) : null; + + if ( nAlleles > 2 ) { + // for multi-allelics we need to clear the map, and add additional looks + alleleMapForTriPlus.clear(); + final List alleles = vc.getAlleles(); + for ( int i = 2; i < alleles.size(); i++ ) { + alleleMapForTriPlus.put(alleles.get(i), i); + } + } + } + } +} + diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2FieldWriterManager.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2FieldWriterManager.java new file mode 100644 index 000000000..269750c66 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2FieldWriterManager.java @@ -0,0 +1,185 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext.writer; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import org.apache.log4j.Logger; +import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; + +import java.util.HashMap; +import java.util.Map; + +/** + * See #BCFWriter for documentation on this classes role in encoding BCF2 files + * + * @author Mark DePristo + * @since 06/12 + */ +public class BCF2FieldWriterManager { + final protected static Logger logger = Logger.getLogger(BCF2FieldWriterManager.class); + final Map siteWriters = new HashMap(); + final Map genotypesWriters = new HashMap(); + final IntGenotypeFieldAccessors intGenotypeFieldAccessors = new IntGenotypeFieldAccessors(); + + public BCF2FieldWriterManager() { } + + /** + * Setup the FieldWriters appropriate to each INFO and FORMAT in the VCF header + * + * Must be called before any of the getter methods will work + * + * @param header a VCFHeader containing description for every INFO and FORMAT field we'll attempt to write out to BCF + * @param encoder the encoder we are going to use to write out the BCF2 data + * @param stringDictionary a map from VCFHeader strings to their offsets for encoding + */ + public void setup(final VCFHeader header, final BCF2Encoder encoder, final Map stringDictionary) { + for (final VCFInfoHeaderLine line : header.getInfoHeaderLines()) { + final String field = line.getID(); + final BCF2FieldWriter.SiteWriter writer = createInfoWriter(header, line, encoder, stringDictionary); + add(siteWriters, field, writer); + } + + for (final VCFFormatHeaderLine line : header.getFormatHeaderLines()) { + final String field = line.getID(); + final BCF2FieldWriter.GenotypesWriter writer = createGenotypesWriter(header, line, encoder, stringDictionary); + add(genotypesWriters, field, writer); + } + } + + @Requires({"field != null", "writer != null"}) + @Ensures("map.containsKey(field)") + private final void add(final Map map, final String field, final T writer) { + if ( map.containsKey(field) ) + throw new ReviewedStingException("BUG: field " + field + " already seen in VCFHeader while building BCF2 field encoders"); + map.put(field, writer); + logger.info(writer); + } + + // ----------------------------------------------------------------- + // + // Master routine to look at the header, a specific line, and + // build an appropriate SiteWriter for that header element + // + // ----------------------------------------------------------------- + + private BCF2FieldWriter.SiteWriter createInfoWriter(final VCFHeader header, + final VCFInfoHeaderLine line, + final BCF2Encoder encoder, + final Map dict) { + return new BCF2FieldWriter.GenericSiteWriter(header, createFieldEncoder(line, encoder, dict, false)); + } + + private BCF2FieldEncoder createFieldEncoder(final VCFCompoundHeaderLine line, + final BCF2Encoder encoder, + final Map dict, + final boolean createGenotypesEncoders ) { + + if ( createGenotypesEncoders && intGenotypeFieldAccessors.getAccessor(line.getID()) != null ) { + if ( line.getType() != VCFHeaderLineType.Integer ) + logger.warn("Warning: field " + line.getID() + " expected to encode an integer but saw " + line.getType() + " for record " + line); + return new BCF2FieldEncoder.IntArray(line, dict); + } else if ( createGenotypesEncoders && line.getID().equals(VCFConstants.GENOTYPE_KEY) ) { + return new BCF2FieldEncoder.GenericInts(line, dict); + } else { + switch ( line.getType() ) { + case Character: + case String: + return new BCF2FieldEncoder.StringOrCharacter(line, dict); + case Flag: + return new BCF2FieldEncoder.Flag(line, dict); + case Float: + return new BCF2FieldEncoder.Float(line, dict); + case Integer: + if ( line.isFixedCount() && line.getCount() == 1 ) + return new BCF2FieldEncoder.AtomicInt(line, dict); + else + return new BCF2FieldEncoder.GenericInts(line, dict); + default: + throw new ReviewedStingException("Unexpected type for field " + line.getID()); + } + } + } + + // ----------------------------------------------------------------- + // + // Master routine to look at the header, a specific line, and + // build an appropriate Genotypes for that header element + // + // ----------------------------------------------------------------- + + private BCF2FieldWriter.GenotypesWriter createGenotypesWriter(final VCFHeader header, + final VCFFormatHeaderLine line, + final BCF2Encoder encoder, + final Map dict) { + final String field = line.getID(); + final BCF2FieldEncoder fieldEncoder = createFieldEncoder(line, encoder, dict, true); + + if ( field.equals(VCFConstants.GENOTYPE_KEY) ) { + return new BCF2FieldWriter.GTWriter(header, fieldEncoder); + } else if ( line.getID().equals(VCFConstants.GENOTYPE_FILTER_KEY) ) { + return new BCF2FieldWriter.FTGenotypesWriter(header, fieldEncoder); + } else if ( intGenotypeFieldAccessors.getAccessor(field) != null ) { + return new BCF2FieldWriter.IGFGenotypesWriter(header, fieldEncoder, intGenotypeFieldAccessors.getAccessor(field)); + } else if ( line.getType() == VCFHeaderLineType.Integer ) { + return new BCF2FieldWriter.IntegerTypeGenotypesWriter(header, fieldEncoder); + } else { + return new BCF2FieldWriter.StaticallyTypeGenotypesWriter(header, fieldEncoder); + } + } + + // ----------------------------------------------------------------- + // + // Accessors to get site / genotype writers + // + // ----------------------------------------------------------------- + + /** + * Get a site writer specialized to encode values for site info field + * @param field key found in the VCF header INFO records + * @return + */ + public BCF2FieldWriter.SiteWriter getSiteFieldWriter(final String field) { + return getWriter(field, siteWriters); + } + + /** + * Get a genotypes writer specialized to encode values for genotypes field + * @param field key found in the VCF header FORMAT records + * @return + */ + public BCF2FieldWriter.GenotypesWriter getGenotypeFieldWriter(final String field) { + return getWriter(field, genotypesWriters); + } + + @Requires({"map != null", "key != null"}) + @Ensures("result != null") + public T getWriter(final String key, final Map map) { + final T writer = map.get(key); + if ( writer == null ) throw new ReviewedStingException("BUG: no writer found for " + key); + return writer; + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2Writer.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2Writer.java new file mode 100644 index 000000000..c77fe7172 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/BCF2Writer.java @@ -0,0 +1,369 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext.writer; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import net.sf.samtools.SAMSequenceDictionary; +import org.apache.log4j.Logger; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Codec; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Type; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Utils; +import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.broadinstitute.sting.utils.variantcontext.*; + +import java.io.*; +import java.util.*; + +/** + * VariantContextWriter that emits BCF2 binary encoding + * + * Overall structure of this writer is complex for efficiency reasons + * + * -- The BCF2Writer manages the low-level BCF2 encoder, the mappings + * from contigs and strings to offsets, the VCF header, and holds the + * lower-level encoders that map from VC and Genotype fields to their + * specific encoders. This class also writes out the standard BCF2 fields + * like POS, contig, the size of info and genotype data, QUAL, etc. It + * has loops over the INFO and GENOTYPES to encode each individual datum + * with the generic field encoders, but the actual encoding work is + * done with by the FieldWriters classes themselves + * + * -- BCF2FieldWriter are specialized classes for writing out SITE and + * genotype information for specific SITE/GENOTYPE fields (like AC for + * sites and GQ for genotypes). These are objects in themselves because + * the manage all of the complexity of relating the types in the VCF header + * with the proper encoding in BCF as well as the type representing this + * in java. Relating all three of these pieces of information together + * is the main complexity challenge in the encoder. The piece of code + * that determines which FieldWriters to associate with each SITE and + * GENOTYPE field is the BCF2FieldWriterManager. These FieldWriters + * are specialized for specific combinations of encoders (see below) + * and contexts (genotypes) for efficiency, so they smartly manage + * the writing of PLs (encoded as int[]) directly into the lowest + * level BCFEncoder. + * + * -- At the third level is the BCF2FieldEncoder, relatively simple + * pieces of code that handle the task of determining the right + * BCF2 type for specific field values, as well as reporting back + * information such as the number of elements used to encode it + * (simple for atomic values like Integer but complex for PLs + * or lists of strings) + * + * -- At the lowest level is the BCF2Encoder itself. This provides + * just the limited encoding methods specified by the BCF2 specification. This encoder + * doesn't do anything but make it possible to conveniently write out valid low-level + * BCF2 constructs. + * + * @author Mark DePristo + * @since 06/12 + */ +class BCF2Writer extends IndexingVariantContextWriter { + final protected static Logger logger = Logger.getLogger(BCF2Writer.class); + final private static boolean ALLOW_MISSING_CONTIG_LINES = false; + + private final OutputStream outputStream; // Note: do not flush until completely done writing, to avoid issues with eventual BGZF support + private VCFHeader header; + private final Map contigDictionary = new HashMap(); + private final Map stringDictionaryMap = new LinkedHashMap(); + private final boolean doNotWriteGenotypes; + private String[] sampleNames = null; + + private final BCF2Encoder encoder = new BCF2Encoder(); // initialized after the header arrives + final BCF2FieldWriterManager fieldManager = new BCF2FieldWriterManager(); + + public BCF2Writer(final File location, final OutputStream output, final SAMSequenceDictionary refDict, final boolean enableOnTheFlyIndexing, final boolean doNotWriteGenotypes) { + super(writerName(location, output), location, output, refDict, enableOnTheFlyIndexing); + this.outputStream = getOutputStream(); + this.doNotWriteGenotypes = doNotWriteGenotypes; + } + + // -------------------------------------------------------------------------------- + // + // Interface functions + // + // -------------------------------------------------------------------------------- + + @Override + public void writeHeader(VCFHeader header) { + // make sure the header is sorted correctly + header = new VCFHeader(header.getMetaDataInSortedOrder(), header.getGenotypeSamples()); + + // create the config offsets map + if ( header.getContigLines().isEmpty() ) { + if ( ALLOW_MISSING_CONTIG_LINES ) { + logger.warn("No contig dictionary found in header, falling back to reference sequence dictionary"); + createContigDictionary(VCFUtils.makeContigHeaderLines(getRefDict(), null)); + } else { + throw new UserException.MalformedBCF2("Cannot write BCF2 file with missing contig lines"); + } + } else { + createContigDictionary(header.getContigLines()); + } + + // set up the map from dictionary string values -> offset + final ArrayList dict = BCF2Utils.makeDictionary(header); + for ( int i = 0; i < dict.size(); i++ ) { + stringDictionaryMap.put(dict.get(i), i); + } + + sampleNames = header.getGenotypeSamples().toArray(new String[header.getNGenotypeSamples()]); + + // setup the field encodings + fieldManager.setup(header, encoder, stringDictionaryMap); + + try { + // write out the header into a byte stream, get it's length, and write everything to the file + final ByteArrayOutputStream capture = new ByteArrayOutputStream(); + final OutputStreamWriter writer = new OutputStreamWriter(capture); + this.header = VCFWriter.writeHeader(header, writer, doNotWriteGenotypes, VCFWriter.getVersionLine(), "BCF2 stream"); + writer.append('\0'); // the header is null terminated by a byte + writer.close(); + + final byte[] headerBytes = capture.toByteArray(); + outputStream.write(BCF2Utils.MAGIC_HEADER_LINE); + BCF2Utils.encodeRawBytes(headerBytes.length, BCF2Type.INT32, outputStream); + outputStream.write(headerBytes); + } catch (IOException e) { + throw new UserException.CouldNotCreateOutputFile("BCF2 stream", "Got IOException while trying to write BCF2 header", e); + } + } + + @Override + public void add( VariantContext vc ) { + if ( doNotWriteGenotypes ) + vc = new VariantContextBuilder(vc).noGenotypes().make(); + vc = vc.fullyDecode(header, false); + + super.add(vc); // allow on the fly indexing + + try { + final byte[] infoBlock = buildSitesData(vc); + final byte[] genotypesBlock = buildSamplesData(vc); + + // write the two blocks to disk + writeBlock(infoBlock, genotypesBlock); + } + catch ( IOException e ) { + throw new UserException("Error writing record to BCF2 file: " + vc.toString(), e); + } + } + + @Override + public void close() { + try { + outputStream.flush(); + outputStream.close(); + } + catch ( IOException e ) { + throw new UserException("Failed to close BCF2 file"); + } + super.close(); + } + + // -------------------------------------------------------------------------------- + // + // implicit block + // + // The first four records of BCF are inline untype encoded data of: + // + // 4 byte integer chrom offset + // 4 byte integer start + // 4 byte integer ref length + // 4 byte float qual + // + // -------------------------------------------------------------------------------- + private byte[] buildSitesData( VariantContext vc ) throws IOException { + final int contigIndex = contigDictionary.get(vc.getChr()); + if ( contigIndex == -1 ) + throw new UserException(String.format("Contig %s not found in sequence dictionary from reference", vc.getChr())); + + // note use of encodeRawValue to not insert the typing byte + encoder.encodeRawValue(contigIndex, BCF2Type.INT32); + + // pos. GATK is 1 based, BCF2 is 0 based + encoder.encodeRawValue(vc.getStart() - 1, BCF2Type.INT32); + + // ref length. GATK is closed, but BCF2 is open so the ref length is GATK end - GATK start + 1 + // for example, a SNP is in GATK at 1:10-10, which has ref length 10 - 10 + 1 = 1 + encoder.encodeRawValue(vc.getEnd() - vc.getStart() + 1, BCF2Type.INT32); + + // qual + if ( vc.hasLog10PError() ) + encoder.encodeRawFloat((float) vc.getPhredScaledQual()); + else + encoder.encodeRawMissingValue(BCF2Type.FLOAT); + + // info fields + final int nAlleles = vc.getNAlleles(); + final int nInfo = vc.getAttributes().size(); + final int nGenotypeFormatFields = getNGenotypeFormatFields(vc); + final int nSamples = header.getNGenotypeSamples(); + + encoder.encodeRawInt((nAlleles << 16) | (nInfo & 0x0000FFFF), BCF2Type.INT32); + encoder.encodeRawInt((nGenotypeFormatFields << 24) | (nSamples & 0x00FFFFF), BCF2Type.INT32); + + buildID(vc); + buildAlleles(vc); + buildFilter(vc); + buildInfo(vc); + + return encoder.getRecordBytes(); + } + + private BCF2Codec.LazyData getLazyData(final VariantContext vc) { + if ( vc.getGenotypes().isLazyWithData() ) { + LazyGenotypesContext lgc = (LazyGenotypesContext)vc.getGenotypes(); + if ( lgc.getUnparsedGenotypeData() instanceof BCF2Codec.LazyData ) + return (BCF2Codec.LazyData)lgc.getUnparsedGenotypeData(); + } + + return null; + } + + /** + * Try to get the nGenotypeFields as efficiently as possible. + * + * If this is a lazy BCF2 object just grab the field count from there, + * otherwise do the whole counting by types test in the actual data + * + * @param vc + * @return + */ + private final int getNGenotypeFormatFields(final VariantContext vc) { + final BCF2Codec.LazyData lazyData = getLazyData(vc); + return lazyData != null ? lazyData.nGenotypeFields : VCFWriter.calcVCFGenotypeKeys(vc, header).size(); + } + + private void buildID( VariantContext vc ) throws IOException { + encoder.encodeTypedString(vc.getID()); + } + + private void buildAlleles( VariantContext vc ) throws IOException { + final boolean needsPadding = VCFAlleleClipper.needsPadding(vc); + for ( Allele allele : vc.getAlleles() ) { + if ( needsPadding ) + allele = VCFAlleleClipper.padAllele(vc, allele); + final byte[] s = allele.getDisplayBases(); + if ( s == null ) + throw new ReviewedStingException("BUG: BCF2Writer encountered null padded allele" + allele); + encoder.encodeTypedString(s); + } + } + + private void buildFilter( VariantContext vc ) throws IOException { + if ( vc.isFiltered() ) { + encodeStringsByRef(vc.getFilters()); + } else { + encoder.encodeTypedMissing(BCF2Type.INT8); + } + } + + private void buildInfo( VariantContext vc ) throws IOException { + for ( Map.Entry infoFieldEntry : vc.getAttributes().entrySet() ) { + final String key = infoFieldEntry.getKey(); + final BCF2FieldWriter.SiteWriter writer = fieldManager.getSiteFieldWriter(key); + writer.start(encoder, vc); + writer.site(encoder, vc); + writer.done(encoder, vc); + } + } + + private byte[] buildSamplesData(final VariantContext vc) throws IOException { + final BCF2Codec.LazyData lazyData = getLazyData(vc); + if ( lazyData != null ) { + // we never decoded any data from this BCF file, so just pass it back + return lazyData.bytes; + } else { + // we have to do work to convert the VC into a BCF2 byte stream + final List genotypeFields = VCFWriter.calcVCFGenotypeKeys(vc, header); + for ( final String field : genotypeFields ) { + final BCF2FieldWriter.GenotypesWriter writer = fieldManager.getGenotypeFieldWriter(field); + + writer.start(encoder, vc); + for ( final String name : sampleNames ) { + Genotype g = vc.getGenotype(name); + if ( g == null ) VCFWriter.missingSampleError(vc, header); + writer.addGenotype(encoder, vc, g); + } + writer.done(encoder, vc); + } + return encoder.getRecordBytes(); + } + } + + // -------------------------------------------------------------------------------- + // + // Low-level block encoding + // + // -------------------------------------------------------------------------------- + + /** + * Write the data in the encoder to the outputstream as a length encoded + * block of data. After this call the encoder stream will be ready to + * start a new data block + * + * @throws IOException + */ + @Requires({"infoBlock.length > 0", "genotypesBlock.length >= 0"}) + private void writeBlock(final byte[] infoBlock, final byte[] genotypesBlock) throws IOException { + BCF2Utils.encodeRawBytes(infoBlock.length, BCF2Type.INT32, outputStream); + BCF2Utils.encodeRawBytes(genotypesBlock.length, BCF2Type.INT32, outputStream); + outputStream.write(infoBlock); + outputStream.write(genotypesBlock); + } + + @Requires("! strings.isEmpty()") + @Ensures("result.isIntegerType()") + private final BCF2Type encodeStringsByRef(final Collection strings) throws IOException { + final List offsets = new ArrayList(strings.size()); + + // iterate over strings until we find one that needs 16 bits, and break + for ( final String string : strings ) { + final Integer got = stringDictionaryMap.get(string); + if ( got == null ) throw new ReviewedStingException("Format error: could not find string " + string + " in header as required by BCF"); + final int offset = got; + offsets.add(offset); + } + + final BCF2Type type = BCF2Utils.determineIntegerType(offsets); + encoder.encodeTyped(offsets, type); + return type; + } + + /** + * Create the contigDictionary from the contigLines extracted from the VCF header + * + * @param contigLines + */ + @Requires("contigDictionary.isEmpty()") + private final void createContigDictionary(final Collection contigLines) { + int offset = 0; + for ( VCFContigHeaderLine contig : contigLines ) + contigDictionary.put(contig.getID(), offset++); + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/IndexingVCFWriter.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/IndexingVariantContextWriter.java similarity index 71% rename from public/java/src/org/broadinstitute/sting/utils/codecs/vcf/IndexingVCFWriter.java rename to public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/IndexingVariantContextWriter.java index 71ec4ce1b..df0feda8b 100644 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/IndexingVCFWriter.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/IndexingVariantContextWriter.java @@ -22,19 +22,18 @@ * OTHER DEALINGS IN THE SOFTWARE. */ -package org.broadinstitute.sting.utils.codecs.vcf; +package org.broadinstitute.sting.utils.variantcontext.writer; import com.google.java.contract.Ensures; import com.google.java.contract.Requires; import net.sf.samtools.SAMSequenceDictionary; import org.broad.tribble.Tribble; -import org.broad.tribble.TribbleException; import org.broad.tribble.index.DynamicIndexCreator; import org.broad.tribble.index.Index; import org.broad.tribble.index.IndexFactory; import org.broad.tribble.util.LittleEndianOutputStream; -import org.broad.tribble.util.PositionalStream; import org.broadinstitute.sting.gatk.refdata.tracks.IndexDictionaryUtils; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.VariantContext; @@ -44,19 +43,19 @@ import java.io.*; /** * this class writes VCF files */ -public abstract class IndexingVCFWriter implements VCFWriter { - final private String name; +abstract class IndexingVariantContextWriter implements VariantContextWriter { + private final String name; private final SAMSequenceDictionary refDict; private OutputStream outputStream; - private PositionalStream positionalStream = null; + private PositionalOutputStream positionalOutputStream = null; private DynamicIndexCreator indexer = null; private LittleEndianOutputStream idxStream = null; @Requires({"name != null", "! ( location == null && output == null )", "! ( enableOnTheFlyIndexing && location == null )"}) - protected IndexingVCFWriter(final String name, final File location, final OutputStream output, final SAMSequenceDictionary refDict, final boolean enableOnTheFlyIndexing) { + protected IndexingVariantContextWriter(final String name, final File location, final OutputStream output, final SAMSequenceDictionary refDict, final boolean enableOnTheFlyIndexing) { outputStream = output; this.name = name; this.refDict = refDict; @@ -67,13 +66,13 @@ public abstract class IndexingVCFWriter implements VCFWriter { //System.out.println("Creating index on the fly for " + location); indexer = new DynamicIndexCreator(IndexFactory.IndexBalanceApproach.FOR_SEEK_TIME); indexer.initialize(location, indexer.defaultBinSize()); - positionalStream = new PositionalStream(output); - outputStream = positionalStream; + positionalOutputStream = new PositionalOutputStream(output); + outputStream = positionalOutputStream; } catch ( IOException ex ) { // No matter what we keep going, since we don't care if we can't create the index file idxStream = null; indexer = null; - positionalStream = null; + positionalOutputStream = null; } } } @@ -97,7 +96,7 @@ public abstract class IndexingVCFWriter implements VCFWriter { // try to close the index stream (keep it separate to help debugging efforts) if ( indexer != null ) { try { - Index index = indexer.finalizeIndex(positionalStream.getPosition()); + Index index = indexer.finalizeIndex(positionalOutputStream.getPosition()); IndexDictionaryUtils.setIndexSequenceDictionary(index, refDict); index.write(idxStream); idxStream.close(); @@ -107,6 +106,13 @@ public abstract class IndexingVCFWriter implements VCFWriter { } } + /** + * @return the reference sequence dictionary used for the variant contexts being written + */ + public SAMSequenceDictionary getRefDict() { + return refDict; + } + /** * add a record to the file * @@ -115,7 +121,7 @@ public abstract class IndexingVCFWriter implements VCFWriter { public void add(VariantContext vc) { // if we are doing on the fly indexing, add the record ***before*** we write any bytes if ( indexer != null ) - indexer.addFeature(vc, positionalStream.getPosition()); + indexer.addFeature(vc, positionalOutputStream.getPosition()); } /** @@ -128,17 +134,35 @@ public abstract class IndexingVCFWriter implements VCFWriter { protected static final String writerName(final File location, final OutputStream stream) { return location == null ? stream.toString() : location.getAbsolutePath(); } - - /** - * Returns a output stream writing to location, or throws a UserException if this fails - * @param location - * @return - */ - protected static OutputStream openOutputStream(final File location) { - try { - return new FileOutputStream(location); - } catch (FileNotFoundException e) { - throw new UserException.CouldNotCreateOutputFile(location, "Unable to create VCF writer", e); - } - } } + +final class PositionalOutputStream extends OutputStream { + private final OutputStream out; + private long position = 0; + + public PositionalOutputStream(final OutputStream out) { + this.out = out; + } + + public final void write(final byte[] bytes) throws IOException { + write(bytes, 0, bytes.length); + } + + public final void write(final byte[] bytes, final int startIndex, final int numBytes) throws IOException { + position += numBytes; + out.write(bytes, startIndex, numBytes); + } + + public final void write(int c) throws IOException { + position++; + out.write(c); + } + + public final long getPosition() { return position; } + + @Override + public void close() throws IOException { + super.close(); + out.close(); + } +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/IntGenotypeFieldAccessors.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/IntGenotypeFieldAccessors.java new file mode 100644 index 000000000..fc117e5e1 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/IntGenotypeFieldAccessors.java @@ -0,0 +1,96 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext.writer; + +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.variantcontext.Genotype; + +import java.util.HashMap; + +/** + * A convenient way to provide a single view on the many int and int[] field values we work with, + * for writing out the values. This class makes writing out the inline AD, GQ, PL, DP fields + * easy and fast + * + * @author Mark DePristo + * @since 6/12 + */ +class IntGenotypeFieldAccessors { + // initialized once per writer to allow parallel writers to work + private final HashMap intGenotypeFieldEncoders = new HashMap(); + + public IntGenotypeFieldAccessors() { + intGenotypeFieldEncoders.put(VCFConstants.DEPTH_KEY, new IntGenotypeFieldAccessors.DPAccessor()); + intGenotypeFieldEncoders.put(VCFConstants.GENOTYPE_ALLELE_DEPTHS, new IntGenotypeFieldAccessors.ADAccessor()); + intGenotypeFieldEncoders.put(VCFConstants.GENOTYPE_PL_KEY, new IntGenotypeFieldAccessors.PLAccessor()); + intGenotypeFieldEncoders.put(VCFConstants.GENOTYPE_QUALITY_KEY, new IntGenotypeFieldAccessors.GQAccessor()); + } + + /** + * Return an accessor for field, or null if none exists + * @param field + * @return + */ + public Accessor getAccessor(final String field) { + return intGenotypeFieldEncoders.get(field); + } + + public static abstract class Accessor { + public abstract int[] getValues(final Genotype g); + + public final int getSize(final Genotype g) { + final int[] v = getValues(g); + return v == null ? 0 : v.length; + } + } + + private static abstract class AtomicAccessor extends Accessor { + private final int[] singleton = new int[1]; + + @Override + public int[] getValues(final Genotype g) { + singleton[0] = getValue(g); + return singleton[0] == -1 ? null : singleton; + } + + public abstract int getValue(final Genotype g); + } + + public static class GQAccessor extends AtomicAccessor { + @Override public int getValue(final Genotype g) { return Math.min(g.getGQ(), VCFConstants.MAX_GENOTYPE_QUAL); } + } + + public static class DPAccessor extends AtomicAccessor { + @Override public int getValue(final Genotype g) { return g.getDP(); } + } + + public static class ADAccessor extends Accessor { + @Override public int[] getValues(final Genotype g) { return g.getAD(); } + } + + public static class PLAccessor extends Accessor { + @Override public int[] getValues(final Genotype g) { return g.getPL(); } + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/Options.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/Options.java new file mode 100644 index 000000000..3a5cb23b0 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/Options.java @@ -0,0 +1,38 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext.writer; + +/** + * Available writer options for VariantContextWriters + * + * @author Mark DePristo + * @since 5/12 + */ +public enum Options { + INDEX_ON_THE_FLY, + DO_NOT_WRITE_GENOTYPES, + ALLOW_MISSING_FIELDS_IN_HEADER, + FORCE_BCF +} diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/SortingVCFWriter.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/SortingVariantContextWriter.java similarity index 86% rename from public/java/src/org/broadinstitute/sting/utils/codecs/vcf/SortingVCFWriter.java rename to public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/SortingVariantContextWriter.java index 7ece5edf8..b51892b31 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/SortingVCFWriter.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/SortingVariantContextWriter.java @@ -23,14 +23,14 @@ * THE USE OR OTHER DEALINGS IN THE SOFTWARE. */ -package org.broadinstitute.sting.utils.codecs.vcf; +package org.broadinstitute.sting.utils.variantcontext.writer; import org.broadinstitute.sting.utils.variantcontext.VariantContext; /** * this class writes VCF files, allowing records to be passed in unsorted (up to a certain genomic distance away) */ -public class SortingVCFWriter extends SortingVCFWriterBase { +class SortingVariantContextWriter extends SortingVariantContextWriterBase { // the maximum START distance between records that we'll cache private int maxCachingStartDistance; @@ -42,12 +42,12 @@ public class SortingVCFWriter extends SortingVCFWriterBase { * @param maxCachingStartDistance the maximum start distance between records that we'll cache * @param takeOwnershipOfInner Should this Writer close innerWriter when it's done with it */ - public SortingVCFWriter(VCFWriter innerWriter, int maxCachingStartDistance, boolean takeOwnershipOfInner) { + public SortingVariantContextWriter(VariantContextWriter innerWriter, int maxCachingStartDistance, boolean takeOwnershipOfInner) { super(innerWriter, takeOwnershipOfInner); this.maxCachingStartDistance = maxCachingStartDistance; } - public SortingVCFWriter(VCFWriter innerWriter, int maxCachingStartDistance) { + public SortingVariantContextWriter(VariantContextWriter innerWriter, int maxCachingStartDistance) { this(innerWriter, maxCachingStartDistance, false); // by default, don't own inner } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/SortingVCFWriterBase.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/SortingVariantContextWriterBase.java similarity index 94% rename from public/java/src/org/broadinstitute/sting/utils/codecs/vcf/SortingVCFWriterBase.java rename to public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/SortingVariantContextWriterBase.java index 84ecc7fcd..18d91ef3f 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/SortingVCFWriterBase.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/SortingVariantContextWriterBase.java @@ -23,8 +23,9 @@ * THE USE OR OTHER DEALINGS IN THE SOFTWARE. */ -package org.broadinstitute.sting.utils.codecs.vcf; +package org.broadinstitute.sting.utils.variantcontext.writer; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.*; @@ -34,10 +35,10 @@ import java.util.concurrent.PriorityBlockingQueue; * This class writes VCF files, allowing records to be passed in unsorted. * It also enforces that it is never passed records of the same chromosome with any other chromosome in between them. */ -public abstract class SortingVCFWriterBase implements VCFWriter { +abstract class SortingVariantContextWriterBase implements VariantContextWriter { // The VCFWriter to which to actually write the sorted VCF records - private final VCFWriter innerWriter; + private final VariantContextWriter innerWriter; // the current queue of un-emitted records private final Queue queue; @@ -64,7 +65,7 @@ public abstract class SortingVCFWriterBase implements VCFWriter { * @param innerWriter the VCFWriter to write to * @param takeOwnershipOfInner Should this Writer close innerWriter when it's done with it */ - public SortingVCFWriterBase(VCFWriter innerWriter, boolean takeOwnershipOfInner) { + public SortingVariantContextWriterBase(VariantContextWriter innerWriter, boolean takeOwnershipOfInner) { this.innerWriter = innerWriter; this.finishedChromosomes = new TreeSet(); this.takeOwnershipOfInner = takeOwnershipOfInner; @@ -76,7 +77,7 @@ public abstract class SortingVCFWriterBase implements VCFWriter { this.mostUpstreamWritableLoc = BEFORE_MOST_UPSTREAM_LOC; } - public SortingVCFWriterBase(VCFWriter innerWriter) { + public SortingVariantContextWriterBase(VariantContextWriter innerWriter) { this(innerWriter, false); // by default, don't own inner } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/StandardVCFWriter.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/VCFWriter.java similarity index 50% rename from public/java/src/org/broadinstitute/sting/utils/codecs/vcf/StandardVCFWriter.java rename to public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/VCFWriter.java index ac1da7110..4548e026e 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/StandardVCFWriter.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/VCFWriter.java @@ -22,12 +22,15 @@ * OTHER DEALINGS IN THE SOFTWARE. */ -package org.broadinstitute.sting.utils.codecs.vcf; +package org.broadinstitute.sting.utils.variantcontext.writer; import net.sf.samtools.SAMSequenceDictionary; import org.broad.tribble.TribbleException; import org.broad.tribble.util.ParsingUtils; +import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.variantcontext.*; import java.io.*; @@ -37,7 +40,9 @@ import java.util.*; /** * this class writes VCF files */ -public class StandardVCFWriter extends IndexingVCFWriter { +class VCFWriter extends IndexingVariantContextWriter { + private final static String VERSION_LINE = VCFHeader.METADATA_INDICATOR + VCFHeaderVersion.VCF4_1.getFormatString() + "=" + VCFHeaderVersion.VCF4_1.getVersionString(); + // the print stream we're writing to final protected BufferedWriter mWriter; @@ -47,36 +52,17 @@ public class StandardVCFWriter extends IndexingVCFWriter { // the VCF header we're storing protected VCFHeader mHeader = null; - // were filters applied? - protected boolean filtersWereAppliedToContext = false; + final private boolean allowMissingFieldsInHeader; - /** - * create a VCF writer, given a file to write to - * - * @param location the file location to write to - */ - public StandardVCFWriter(final File location, final SAMSequenceDictionary refDict) { - this(location, openOutputStream(location), refDict, true, false); - } + private IntGenotypeFieldAccessors intGenotypeFieldAccessors = new IntGenotypeFieldAccessors(); - public StandardVCFWriter(File location, final SAMSequenceDictionary refDict, boolean enableOnTheFlyIndexing) { - this(location, openOutputStream(location), refDict, enableOnTheFlyIndexing, false); - } - - /** - * create a VCF writer, given a stream to write to - * - * @param output the file location to write to - * @param doNotWriteGenotypes do not write genotypes - */ - public StandardVCFWriter(final OutputStream output, final SAMSequenceDictionary refDict, final boolean doNotWriteGenotypes) { - this(null, output, refDict, false, doNotWriteGenotypes); - } - - public StandardVCFWriter(final File location, final OutputStream output, final SAMSequenceDictionary refDict, final boolean enableOnTheFlyIndexing, boolean doNotWriteGenotypes) { + public VCFWriter(final File location, final OutputStream output, final SAMSequenceDictionary refDict, + final boolean enableOnTheFlyIndexing, boolean doNotWriteGenotypes, + final boolean allowMissingFieldsInHeader ) { super(writerName(location, output), location, output, refDict, enableOnTheFlyIndexing); mWriter = new BufferedWriter(new OutputStreamWriter(getOutputStream())); // todo -- fix buffer size this.doNotWriteGenotypes = doNotWriteGenotypes; + this.allowMissingFieldsInHeader = allowMissingFieldsInHeader; } // -------------------------------------------------------------------------------- @@ -87,46 +73,63 @@ public class StandardVCFWriter extends IndexingVCFWriter { @Override public void writeHeader(VCFHeader header) { - mHeader = doNotWriteGenotypes ? new VCFHeader(header.getMetaData()) : header; + // note we need to update the mHeader object after this call because they header + // may have genotypes trimmed out of it, if doNotWriteGenotypes is true + mHeader = writeHeader(header, mWriter, doNotWriteGenotypes, getVersionLine(), getStreamName()); + } + + public static final String getVersionLine() { + return VERSION_LINE; + } + + public static VCFHeader writeHeader(VCFHeader header, + final Writer writer, + final boolean doNotWriteGenotypes, + final String versionLine, + final String streamNameForError) { + header = doNotWriteGenotypes ? new VCFHeader(header.getMetaDataInSortedOrder()) : header; try { // the file format field needs to be written first - mWriter.write(VCFHeader.METADATA_INDICATOR + VCFHeaderVersion.VCF4_1.getFormatString() + "=" + VCFHeaderVersion.VCF4_1.getVersionString() + "\n"); + writer.write(versionLine + "\n"); - for ( VCFHeaderLine line : mHeader.getMetaData() ) { + for ( VCFHeaderLine line : header.getMetaDataInSortedOrder() ) { if ( VCFHeaderVersion.isFormatString(line.getKey()) ) continue; - // are the records filtered (so we know what to put in the FILTER column of passing records) ? - if ( line instanceof VCFFilterHeaderLine) - filtersWereAppliedToContext = true; - - mWriter.write(VCFHeader.METADATA_INDICATOR); - mWriter.write(line.toString()); - mWriter.write("\n"); + writer.write(VCFHeader.METADATA_INDICATOR); + writer.write(line.toString()); + writer.write("\n"); } // write out the column line - mWriter.write(VCFHeader.HEADER_INDICATOR); - for ( VCFHeader.HEADER_FIELDS field : mHeader.getHeaderFields() ) { - mWriter.write(field.toString()); - mWriter.write(VCFConstants.FIELD_SEPARATOR); + writer.write(VCFHeader.HEADER_INDICATOR); + boolean isFirst = true; + for ( VCFHeader.HEADER_FIELDS field : header.getHeaderFields() ) { + if ( isFirst ) + isFirst = false; // don't write out a field separator + else + writer.write(VCFConstants.FIELD_SEPARATOR); + writer.write(field.toString()); } - if ( mHeader.hasGenotypingData() ) { - mWriter.write("FORMAT"); - for ( String sample : mHeader.getGenotypeSamples() ) { - mWriter.write(VCFConstants.FIELD_SEPARATOR); - mWriter.write(sample); + if ( header.hasGenotypingData() ) { + writer.write(VCFConstants.FIELD_SEPARATOR); + writer.write("FORMAT"); + for ( String sample : header.getGenotypeSamples() ) { + writer.write(VCFConstants.FIELD_SEPARATOR); + writer.write(sample); } } - mWriter.write("\n"); - mWriter.flush(); // necessary so that writing to an output stream will work + writer.write("\n"); + writer.flush(); // necessary so that writing to an output stream will work } catch (IOException e) { - throw new ReviewedStingException("IOException writing the VCF header to " + getStreamName(), e); + throw new ReviewedStingException("IOException writing the VCF header to " + streamNameForError, e); } + + return header; } /** @@ -159,11 +162,10 @@ public class StandardVCFWriter extends IndexingVCFWriter { vc = new VariantContextBuilder(vc).noGenotypes().make(); try { - vc = VariantContextUtils.createVariantContextWithPaddedAlleles(vc, false); + vc = VCFAlleleClipper.createVariantContextWithPaddedAlleles(vc); super.add(vc); - Map alleleMap = new HashMap(vc.getAlleles().size()); - alleleMap.put(Allele.NO_CALL, VCFConstants.EMPTY_ALLELE); // convenience for lookup + Map alleleMap = buildAlleleMap(vc); // CHROM mWriter.write(vc.getChr()); @@ -179,7 +181,6 @@ public class StandardVCFWriter extends IndexingVCFWriter { mWriter.write(VCFConstants.FIELD_SEPARATOR); // REF - alleleMap.put(vc.getReference(), "0"); String refString = vc.getReference().getDisplayString(); mWriter.write(refString); mWriter.write(VCFConstants.FIELD_SEPARATOR); @@ -187,13 +188,11 @@ public class StandardVCFWriter extends IndexingVCFWriter { // ALT if ( vc.isVariant() ) { Allele altAllele = vc.getAlternateAllele(0); - alleleMap.put(altAllele, "1"); String alt = altAllele.getDisplayString(); mWriter.write(alt); for (int i = 1; i < vc.getAlternateAlleles().size(); i++) { altAllele = vc.getAlternateAllele(i); - alleleMap.put(altAllele, String.valueOf(i+1)); alt = altAllele.getDisplayString(); mWriter.write(","); mWriter.write(alt); @@ -207,11 +206,11 @@ public class StandardVCFWriter extends IndexingVCFWriter { if ( !vc.hasLog10PError() ) mWriter.write(VCFConstants.MISSING_VALUE_v4); else - mWriter.write(getQualValue(vc.getPhredScaledQual())); + mWriter.write(formatQualValue(vc.getPhredScaledQual())); mWriter.write(VCFConstants.FIELD_SEPARATOR); // FILTER - String filters = getFilterString(vc, filtersWereAppliedToContext); + String filters = getFilterString(vc); mWriter.write(filters); mWriter.write(VCFConstants.FIELD_SEPARATOR); @@ -219,6 +218,10 @@ public class StandardVCFWriter extends IndexingVCFWriter { Map infoFields = new TreeMap(); for ( Map.Entry field : vc.getAttributes().entrySet() ) { String key = field.getKey(); + + if ( ! mHeader.hasInfoLine(key) ) + fieldIsMissingFromHeaderError(vc, key, "INFO"); + String outputValue = formatVCFField(field.getValue()); if ( outputValue != null ) infoFields.put(key, outputValue); @@ -227,20 +230,18 @@ public class StandardVCFWriter extends IndexingVCFWriter { // FORMAT final GenotypesContext gc = vc.getGenotypes(); - if ( gc instanceof LazyGenotypesContext && ((LazyGenotypesContext)gc).getUnparsedGenotypeData() != null) { + if ( gc.isLazyWithData() && ((LazyGenotypesContext)gc).getUnparsedGenotypeData() instanceof String ) { mWriter.write(VCFConstants.FIELD_SEPARATOR); mWriter.write(((LazyGenotypesContext)gc).getUnparsedGenotypeData().toString()); } else { - List genotypeAttributeKeys = new ArrayList(); - if ( vc.hasGenotypes() ) { - genotypeAttributeKeys.addAll(calcVCFGenotypeKeys(vc)); - } else if ( mHeader.hasGenotypingData() ) { - // this needs to be done in case all samples are no-calls - genotypeAttributeKeys.add(VCFConstants.GENOTYPE_KEY); - } + List genotypeAttributeKeys = calcVCFGenotypeKeys(vc, mHeader); + if ( ! genotypeAttributeKeys.isEmpty() ) { + for ( final String format : genotypeAttributeKeys ) + if ( ! mHeader.hasFormatLine(format) ) + fieldIsMissingFromHeaderError(vc, format, "FORMAT"); + + final String genotypeFormatString = ParsingUtils.join(VCFConstants.GENOTYPE_FIELD_SEPARATOR, genotypeAttributeKeys); - if ( genotypeAttributeKeys.size() > 0 ) { - String genotypeFormatString = ParsingUtils.join(VCFConstants.GENOTYPE_FIELD_SEPARATOR, genotypeAttributeKeys); mWriter.write(VCFConstants.FIELD_SEPARATOR); mWriter.write(genotypeFormatString); @@ -255,24 +256,45 @@ public class StandardVCFWriter extends IndexingVCFWriter { } } + private static Map buildAlleleMap(final VariantContext vc) { + final Map alleleMap = new HashMap(vc.getAlleles().size()+1); + alleleMap.put(Allele.NO_CALL, VCFConstants.EMPTY_ALLELE); // convenience for lookup + + final List alleles = vc.getAlleles(); + for ( int i = 0; i < alleles.size(); i++ ) { + alleleMap.put(alleles.get(i), String.valueOf(i)); + } + + return alleleMap; + } + // -------------------------------------------------------------------------------- // // implementation functions // // -------------------------------------------------------------------------------- - public static final String getFilterString(final VariantContext vc) { - return getFilterString(vc, false); + private final String getFilterString(final VariantContext vc) { + if ( vc.isFiltered() ) { + for ( final String filter : vc.getFilters() ) + if ( ! mHeader.hasFilterLine(filter) ) + fieldIsMissingFromHeaderError(vc, filter, "FILTER"); + + return ParsingUtils.join(";", ParsingUtils.sortList(vc.getFilters())); + } + else if ( vc.filtersWereApplied() ) + return VCFConstants.PASSES_FILTERS_v4; + else + return VCFConstants.UNFILTERED; } - public static final String getFilterString(final VariantContext vc, boolean forcePASS) { - return vc.isFiltered() ? ParsingUtils.join(";", ParsingUtils.sortList(vc.getFilters())) : (forcePASS || vc.filtersWereApplied() ? VCFConstants.PASSES_FILTERS_v4 : VCFConstants.UNFILTERED); - } + private static final String QUAL_FORMAT_STRING = "%.2f"; + private static final String QUAL_FORMAT_EXTENSION_TO_TRIM = ".00"; - private String getQualValue(double qual) { - String s = String.format(VCFConstants.DOUBLE_PRECISION_FORMAT_STRING, qual); - if ( s.endsWith(VCFConstants.DOUBLE_PRECISION_INT_SUFFIX) ) - s = s.substring(0, s.length() - VCFConstants.DOUBLE_PRECISION_INT_SUFFIX.length()); + private String formatQualValue(double qual) { + String s = String.format(QUAL_FORMAT_STRING, qual); + if ( s.endsWith(QUAL_FORMAT_EXTENSION_TO_TRIM) ) + s = s.substring(0, s.length() - QUAL_FORMAT_EXTENSION_TO_TRIM.length()); return s; } @@ -318,22 +340,17 @@ public class StandardVCFWriter extends IndexingVCFWriter { */ private void addGenotypeData(VariantContext vc, Map alleleMap, List genotypeFormatKeys) throws IOException { - for ( String sample : mHeader.getGenotypeSamples() ) { mWriter.write(VCFConstants.FIELD_SEPARATOR); Genotype g = vc.getGenotype(sample); if ( g == null ) { - // TODO -- The VariantContext needs to know what the general ploidy is of the samples - // TODO -- We shouldn't be assuming diploid genotypes here! - mWriter.write(VCFConstants.EMPTY_GENOTYPE); - continue; + missingSampleError(vc, mHeader); } - List attrs = new ArrayList(genotypeFormatKeys.size()); - for ( String key : genotypeFormatKeys ) { - - if ( key.equals(VCFConstants.GENOTYPE_KEY) ) { + final List attrs = new ArrayList(genotypeFormatKeys.size()); + for ( String field : genotypeFormatKeys ) { + if ( field.equals(VCFConstants.GENOTYPE_KEY) ) { if ( !g.isAvailable() ) { throw new ReviewedStingException("GTs cannot be missing for some samples if they are available for others in the record"); } @@ -345,40 +362,53 @@ public class StandardVCFWriter extends IndexingVCFWriter { } continue; - } + } else { + String outputValue; + if ( field.equals(VCFConstants.GENOTYPE_FILTER_KEY ) ) { + outputValue = g.isFiltered() ? g.getFilters() : VCFConstants.PASSES_FILTERS_v4; + } else { + final IntGenotypeFieldAccessors.Accessor accessor = intGenotypeFieldAccessors.getAccessor(field); + if ( accessor != null ) { + final int[] intValues = accessor.getValues(g); + if ( intValues == null ) + outputValue = VCFConstants.MISSING_VALUE_v4; + else if ( intValues.length == 1 ) // fast path + outputValue = Integer.toString(intValues[0]); + else { + StringBuilder sb = new StringBuilder(); + sb.append(intValues[0]); + for ( int i = 1; i < intValues.length; i++) { + sb.append(","); + sb.append(intValues[i]); + } + outputValue = sb.toString(); + } + } else { + Object val = g.hasExtendedAttribute(field) ? g.getExtendedAttribute(field) : VCFConstants.MISSING_VALUE_v4; - Object val = g.hasAttribute(key) ? g.getAttribute(key) : VCFConstants.MISSING_VALUE_v4; + VCFFormatHeaderLine metaData = mHeader.getFormatHeaderLine(field); + if ( metaData != null ) { + int numInFormatField = metaData.getCount(vc); + if ( numInFormatField > 1 && val.equals(VCFConstants.MISSING_VALUE_v4) ) { + // If we have a missing field but multiple values are expected, we need to construct a new string with all fields. + // For example, if Number=2, the string has to be ".,." + StringBuilder sb = new StringBuilder(VCFConstants.MISSING_VALUE_v4); + for ( int i = 1; i < numInFormatField; i++ ) { + sb.append(","); + sb.append(VCFConstants.MISSING_VALUE_v4); + } + val = sb.toString(); + } + } - // some exceptions - if ( key.equals(VCFConstants.GENOTYPE_QUALITY_KEY) ) { - if ( ! g.hasLog10PError() ) - val = VCFConstants.MISSING_VALUE_v4; - else { - val = getQualValue(Math.min(g.getPhredScaledQual(), VCFConstants.MAX_GENOTYPE_QUAL)); - } - } else if ( key.equals(VCFConstants.GENOTYPE_FILTER_KEY) ) { - val = g.isFiltered() ? ParsingUtils.join(";", ParsingUtils.sortList(g.getFilters())) : (g.filtersWereApplied() ? VCFConstants.PASSES_FILTERS_v4 : VCFConstants.UNFILTERED); - } - - VCFFormatHeaderLine metaData = mHeader.getFormatHeaderLine(key); - if ( metaData != null ) { - int numInFormatField = metaData.getCount(vc.getAlternateAlleles().size()); - if ( numInFormatField > 1 && val.equals(VCFConstants.MISSING_VALUE_v4) ) { - // If we have a missing field but multiple values are expected, we need to construct a new string with all fields. - // For example, if Number=2, the string has to be ".,." - StringBuilder sb = new StringBuilder(VCFConstants.MISSING_VALUE_v4); - for ( int i = 1; i < numInFormatField; i++ ) { - sb.append(","); - sb.append(VCFConstants.MISSING_VALUE_v4); + // assume that if key is absent, then the given string encoding suffices + outputValue = formatVCFField(val); } - val = sb.toString(); } - } - // assume that if key is absent, then the given string encoding suffices - String outputValue = formatVCFField(val); - if ( outputValue != null ) - attrs.add(outputValue); + if ( outputValue != null ) + attrs.add(outputValue); + } } // strip off trailing missing values @@ -397,6 +427,13 @@ public class StandardVCFWriter extends IndexingVCFWriter { } } + public static final void missingSampleError(final VariantContext vc, final VCFHeader header) { + final List badSampleNames = new ArrayList(); + for ( final String x : header.getGenotypeSamples() ) + if ( ! vc.hasGenotype(x) ) badSampleNames.add(x); + throw new ReviewedStingException("BUG: we now require all samples in VCFheader to have genotype objects. Missing samples are " + Utils.join(",", badSampleNames)); + } + private boolean isMissingValue(String s) { // we need to deal with the case that it's a list of missing values return (countOccurrences(VCFConstants.MISSING_VALUE_v4.charAt(0), s) + countOccurrences(',', s) == s.length()); @@ -409,12 +446,41 @@ public class StandardVCFWriter extends IndexingVCFWriter { mWriter.write(encoding); } + /** + * Takes a double value and pretty prints it to a String for display + * + * Large doubles => gets %.2f style formatting + * Doubles < 1 / 10 but > 1/100 => get %.3f style formatting + * Double < 1/100 => %.3e formatting + * @param d + * @return + */ + public static final String formatVCFDouble(final double d) { + String format; + if ( d < 1 ) { + if ( d < 0.01 ) { + if ( Math.abs(d) >= 1e-20 ) + format = "%.3e"; + else { + // return a zero format + return "0.00"; + } + } else { + format = "%.3f"; + } + } else { + format = "%.2f"; + } + + return String.format(format, d); + } + public static String formatVCFField(Object val) { String result; if ( val == null ) result = VCFConstants.MISSING_VALUE_v4; else if ( val instanceof Double ) - result = String.format(VCFConstants.DOUBLE_PRECISION_FORMAT_STRING, (Double)val); + result = formatVCFDouble((Double) val); else if ( val instanceof Boolean ) result = (Boolean)val ? "" : null; // empty string for true, null for false else if ( val instanceof List ) { @@ -435,27 +501,35 @@ public class StandardVCFWriter extends IndexingVCFWriter { return result; } - private static List calcVCFGenotypeKeys(VariantContext vc) { + /** + * Determine which genotype fields are in use in the genotypes in VC + * @param vc + * @return an ordered list of genotype fields in use in VC. If vc has genotypes this will always include GT first + */ + public static List calcVCFGenotypeKeys(final VariantContext vc, final VCFHeader header) { Set keys = new HashSet(); boolean sawGoodGT = false; boolean sawGoodQual = false; boolean sawGenotypeFilter = false; + boolean sawDP = false; + boolean sawAD = false; + boolean sawPL = false; for ( final Genotype g : vc.getGenotypes() ) { - keys.addAll(g.getAttributes().keySet()); - if ( g.isAvailable() ) - sawGoodGT = true; - if ( g.hasLog10PError() ) - sawGoodQual = true; - if (g.isFiltered() && g.isCalled()) - sawGenotypeFilter = true; + keys.addAll(g.getExtendedAttributes().keySet()); + if ( g.isAvailable() ) sawGoodGT = true; + if ( g.hasGQ() ) sawGoodQual = true; + if ( g.hasDP() ) sawDP = true; + if ( g.hasAD() ) sawAD = true; + if ( g.hasPL() ) sawPL = true; + if (g.isFiltered()) sawGenotypeFilter = true; } - if ( sawGoodQual ) - keys.add(VCFConstants.GENOTYPE_QUALITY_KEY); - - if (sawGenotypeFilter) - keys.add(VCFConstants.GENOTYPE_FILTER_KEY); + if ( sawGoodQual ) keys.add(VCFConstants.GENOTYPE_QUALITY_KEY); + if ( sawDP ) keys.add(VCFConstants.DEPTH_KEY); + if ( sawAD ) keys.add(VCFConstants.GENOTYPE_ALLELE_DEPTHS); + if ( sawPL ) keys.add(VCFConstants.GENOTYPE_PL_KEY); + if ( sawGenotypeFilter ) keys.add(VCFConstants.GENOTYPE_FILTER_KEY); List sortedList = ParsingUtils.sortList(new ArrayList(keys)); @@ -467,7 +541,12 @@ public class StandardVCFWriter extends IndexingVCFWriter { sortedList = newList; } - return sortedList; + if ( sortedList.isEmpty() && header.hasGenotypingData() ) { + // this needs to be done in case all samples are no-calls + return Collections.singletonList(VCFConstants.GENOTYPE_KEY); + } else { + return sortedList; + } } @@ -478,4 +557,13 @@ public class StandardVCFWriter extends IndexingVCFWriter { } return count; } + + private final void fieldIsMissingFromHeaderError(final VariantContext vc, final String id, final String field) { + if ( !allowMissingFieldsInHeader) + throw new UserException.MalformedVCFHeader("Key " + id + " found in VariantContext field " + field + + " at " + vc.getChr() + ":" + vc.getStart() + + " but this key isn't defined in the VCFHeader. The GATK now requires all VCFs to have" + + " complete VCF headers by default. This error can be disabled with the engine argument" + + " -U LENIENT_VCF_PROCESSING or repair the VCF file header using repairVCFHeader"); + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFWriter.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/VariantContextWriter.java similarity index 63% rename from public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFWriter.java rename to public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/VariantContextWriter.java index 55749d26e..0ad78c7e0 100755 --- a/public/java/src/org/broadinstitute/sting/utils/codecs/vcf/VCFWriter.java +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/VariantContextWriter.java @@ -1,11 +1,12 @@ -package org.broadinstitute.sting.utils.codecs.vcf; +package org.broadinstitute.sting.utils.variantcontext.writer; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.variantcontext.VariantContext; /** * this class writes VCF files */ -public interface VCFWriter { +public interface VariantContextWriter { public void writeHeader(VCFHeader header); diff --git a/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/VariantContextWriterFactory.java b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/VariantContextWriterFactory.java new file mode 100644 index 000000000..f23166a02 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/variantcontext/writer/VariantContextWriterFactory.java @@ -0,0 +1,111 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext.writer; + +import net.sf.samtools.SAMSequenceDictionary; +import org.broadinstitute.sting.utils.exceptions.UserException; + +import java.io.File; +import java.io.FileNotFoundException; +import java.io.FileOutputStream; +import java.io.OutputStream; +import java.util.EnumSet; + +/** + * Factory methods to create VariantContext writers + * + * @author depristo + * @since 5/12 + */ +public class VariantContextWriterFactory { + + public static final EnumSet DEFAULT_OPTIONS = EnumSet.of(Options.INDEX_ON_THE_FLY); + public static final EnumSet NO_OPTIONS = EnumSet.noneOf(Options.class); + + private VariantContextWriterFactory() {} + + public static VariantContextWriter create(final File location, final SAMSequenceDictionary refDict) { + return create(location, openOutputStream(location), refDict, DEFAULT_OPTIONS); + } + + public static VariantContextWriter create(final File location, final SAMSequenceDictionary refDict, final EnumSet options) { + return create(location, openOutputStream(location), refDict, options); + } + + public static VariantContextWriter create(final File location, + final OutputStream output, + final SAMSequenceDictionary refDict) { + return create(location, output, refDict, DEFAULT_OPTIONS); + } + + public static VariantContextWriter create(final OutputStream output, + final SAMSequenceDictionary refDict, + final EnumSet options) { + return create(null, output, refDict, options); + } + + public static VariantContextWriter create(final File location, + final OutputStream output, + final SAMSequenceDictionary refDict, + final EnumSet options) { + final boolean enableBCF = isBCFOutput(location, options); + + if ( enableBCF ) + return new BCF2Writer(location, output, refDict, + options.contains(Options.INDEX_ON_THE_FLY), + options.contains(Options.DO_NOT_WRITE_GENOTYPES)); + else { + return new VCFWriter(location, output, refDict, + options.contains(Options.INDEX_ON_THE_FLY), + options.contains(Options.DO_NOT_WRITE_GENOTYPES), + options.contains(Options.ALLOW_MISSING_FIELDS_IN_HEADER)); + } + } + + public static boolean isBCFOutput(final File location, final EnumSet options) { + return options.contains(Options.FORCE_BCF) || (location != null && location.getName().contains(".bcf")); + } + + public static VariantContextWriter sortOnTheFly(final VariantContextWriter innerWriter, int maxCachingStartDistance) { + return sortOnTheFly(innerWriter, maxCachingStartDistance, false); + } + + public static VariantContextWriter sortOnTheFly(final VariantContextWriter innerWriter, int maxCachingStartDistance, boolean takeOwnershipOfInner) { + return new SortingVariantContextWriter(innerWriter, maxCachingStartDistance, takeOwnershipOfInner); + } + + /** + * Returns a output stream writing to location, or throws a UserException if this fails + * @param location + * @return + */ + protected static OutputStream openOutputStream(final File location) { + try { + return new FileOutputStream(location); + } catch (FileNotFoundException e) { + throw new UserException.CouldNotCreateOutputFile(location, "Unable to create VCF writer", e); + } + } +} diff --git a/public/java/test/net/sf/picard/reference/FastaSequenceIndexBuilderUnitTest.java b/public/java/test/net/sf/picard/reference/FastaSequenceIndexBuilderUnitTest.java index cf0f9051e..c243140f7 100644 --- a/public/java/test/net/sf/picard/reference/FastaSequenceIndexBuilderUnitTest.java +++ b/public/java/test/net/sf/picard/reference/FastaSequenceIndexBuilderUnitTest.java @@ -55,7 +55,7 @@ public class FastaSequenceIndexBuilderUnitTest extends BaseTest { public void unixFileTest() { logger.warn("Executing unixFileTest"); - fastaFile = new File(validationDataLocation + "exampleFASTA.fasta"); + fastaFile = new File(publicTestDir + "exampleFASTA.fasta"); builder = new FastaSequenceIndexBuilder(fastaFile, false); FastaSequenceIndex index = builder.createIndex(); controlIndex.add(new FastaSequenceIndexEntry("chr1", 6, 100000, 60, 61,0)); @@ -72,7 +72,7 @@ public class FastaSequenceIndexBuilderUnitTest extends BaseTest { public void windowsFileTest() { logger.warn("Executing windowsFileTest"); - fastaFile = new File(validationDataLocation + "exampleFASTA-windows.fasta"); + fastaFile = new File(publicTestDir + "exampleFASTA-windows.fasta"); builder = new FastaSequenceIndexBuilder(fastaFile, false); FastaSequenceIndex index = builder.createIndex(); controlIndex.add(new FastaSequenceIndexEntry("chr2", 7, 29, 7, 9,0)); @@ -88,7 +88,7 @@ public class FastaSequenceIndexBuilderUnitTest extends BaseTest { public void combinedWindowsUnix() { logger.warn("Executing combinedWindowsUnix"); - fastaFile = new File(validationDataLocation + "exampleFASTA-combined.fasta"); + fastaFile = new File(publicTestDir + "exampleFASTA-combined.fasta"); builder = new FastaSequenceIndexBuilder(fastaFile, false); FastaSequenceIndex index = builder.createIndex(); controlIndex.add(new FastaSequenceIndexEntry("chr1", 6, 100000, 60, 61,0)); @@ -105,7 +105,7 @@ public class FastaSequenceIndexBuilderUnitTest extends BaseTest { public void threeVariableLengthContigs() { logger.warn("Executing threeVariableLengthContigs"); - fastaFile = new File(validationDataLocation + "exampleFASTA-3contigs.fasta"); + fastaFile = new File(publicTestDir + "exampleFASTA-3contigs.fasta"); builder = new FastaSequenceIndexBuilder(fastaFile, false); FastaSequenceIndex index = builder.createIndex(); controlIndex.add(new FastaSequenceIndexEntry("chr1", 6, 17, 5, 6,0)); diff --git a/public/java/test/org/broadinstitute/sting/BaseTest.java b/public/java/test/org/broadinstitute/sting/BaseTest.java index 84cdde3cb..86b7e60ff 100755 --- a/public/java/test/org/broadinstitute/sting/BaseTest.java +++ b/public/java/test/org/broadinstitute/sting/BaseTest.java @@ -9,13 +9,13 @@ import org.broadinstitute.sting.commandline.CommandLineUtils; import org.broadinstitute.sting.utils.crypt.CryptUtils; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.io.IOUtils; +import org.testng.Assert; +import org.testng.Reporter; +import org.testng.SkipException; import java.io.File; import java.io.IOException; -import java.util.ArrayList; -import java.util.HashMap; -import java.util.List; -import java.util.Map; +import java.util.*; /** * @@ -64,12 +64,6 @@ public abstract class BaseTest { public static final String b37GoodNA12878BAM = validationDataLocation + "/NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.20.bam"; public static final String b37_NA12878_OMNI = validationDataLocation + "/NA12878.omni.vcf"; - public static final String refseqAnnotationLocation = annotationDataLocation + "refseq/"; - public static final String hg18Refseq = refseqAnnotationLocation + "refGene-big-table-hg18.txt"; - public static final String hg19Refseq = refseqAnnotationLocation + "refGene-big-table-hg19.txt"; - public static final String b36Refseq = refseqAnnotationLocation + "refGene-big-table-b36.txt"; - public static final String b37Refseq = refseqAnnotationLocation + "refGene-big-table-b37.txt"; - public static final String dbsnpDataLocation = GATKDataLocation; public static final String b36dbSNP129 = dbsnpDataLocation + "dbsnp_129_b36.vcf"; public static final String b37dbSNP129 = dbsnpDataLocation + "dbsnp_129_b37.vcf"; @@ -84,12 +78,19 @@ public abstract class BaseTest { public static final String hg19Intervals = intervalsLocation + "whole_exome_agilent_1.1_refseq_plus_3_boosters.Homo_sapiens_assembly19.targets.interval_list"; public static final String hg19Chr20Intervals = intervalsLocation + "whole_exome_agilent_1.1_refseq_plus_3_boosters.Homo_sapiens_assembly19.targets.chr20.interval_list"; - public static final boolean REQUIRE_NETWORK_CONNECTION = true; - public static final String networkTempDir; - public static final File networkTempDirFile; + public static final boolean REQUIRE_NETWORK_CONNECTION = false; + private static final String networkTempDirRoot = "/broad/hptmp/"; + private static final boolean networkTempDirRootExists = new File(networkTempDirRoot).exists(); + private static final String networkTempDir; + private static final File networkTempDirFile; - public static final File testDirFile = new File("public/testdata/"); - public static final String testDir = testDirFile.getAbsolutePath() + "/"; + private static final String privateTestDirRelative = "private/testdata/"; + public static final String privateTestDir = new File(privateTestDirRelative).getAbsolutePath() + "/"; + protected static final String privateTestDirRoot = privateTestDir.replace(privateTestDirRelative, ""); + + private static final String publicTestDirRelative = "public/testdata/"; + public static final String publicTestDir = new File(publicTestDirRelative).getAbsolutePath() + "/"; + protected static final String publicTestDirRoot = publicTestDir.replace(publicTestDirRelative, ""); public static final String keysDataLocation = validationDataLocation + "keys/"; public static final String gatkKeyFile = CryptUtils.GATK_USER_KEY_DIRECTORY + "gsamembers_broadinstitute.org.key"; @@ -109,19 +110,22 @@ public abstract class BaseTest { // Set the Root logger to only output warnings. logger.setLevel(Level.WARN); - if ( REQUIRE_NETWORK_CONNECTION ) { - networkTempDirFile = IOUtils.tempDir("temp.", ".dir", new File("/broad/hptmp/" + System.getProperty("user.name"))); + if (networkTempDirRootExists) { + networkTempDirFile = IOUtils.tempDir("temp.", ".dir", new File(networkTempDirRoot + System.getProperty("user.name"))); networkTempDirFile.deleteOnExit(); networkTempDir = networkTempDirFile.getAbsolutePath() + "/"; + } else { + networkTempDir = null; + networkTempDirFile = null; + } + + if ( REQUIRE_NETWORK_CONNECTION ) { // find our file sources if (!fileExist(hg18Reference) || !fileExist(hg19Reference) || !fileExist(b36KGReference)) { logger.fatal("We can't locate the reference directories. Aborting!"); throw new RuntimeException("BaseTest setup failed: unable to locate the reference directories"); } - } else { - networkTempDir = null; - networkTempDirFile = null; } } @@ -254,10 +258,56 @@ public abstract class BaseTest { * Creates a temp file that will be deleted on exit after tests are complete. * @param name Name of the file. * @return A file in the network temporary directory with name, which will be deleted after the program exits. + * @throws SkipException when the network is not available. */ - public static File createNetworkTempFile(String name) { + public static File tryCreateNetworkTempFile(String name) { + if (!networkTempDirRootExists) + throw new SkipException("Network temporary directory does not exist: " + networkTempDirRoot); File file = new File(networkTempDirFile, name); file.deleteOnExit(); return file; } + + /** + * Log this message so that it shows up inline during output as well as in html reports + * + * @param message + */ + public static void log(final String message) { + Reporter.log(message, true); + } + + private static final double DEFAULT_FLOAT_TOLERANCE = 1e-1; + + public static final void assertEqualsDoubleSmart(final Object actual, final Double expected) { + Assert.assertTrue(actual instanceof Double); + assertEqualsDoubleSmart((double)(Double)actual, (double)expected); + } + + public static final void assertEqualsDoubleSmart(final Object actual, final Double expected, final double tolerance) { + Assert.assertTrue(actual instanceof Double); + assertEqualsDoubleSmart((double)(Double)actual, (double)expected, tolerance); + } + + public static final void assertEqualsDoubleSmart(final double actual, final double expected) { + assertEqualsDoubleSmart(actual, expected, DEFAULT_FLOAT_TOLERANCE); + } + + public static final void assertEqualsSet(final Set actual, final Set expected, final String info) { + final Set actualSet = new HashSet(actual); + final Set expectedSet = new HashSet(expected); + Assert.assertTrue(actualSet.equals(expectedSet), info); // note this is necessary due to testng bug for set comps + } + + public static final void assertEqualsDoubleSmart(final double actual, final double expected, final double tolerance) { + if ( Double.isNaN(expected) ) // NaN == NaN => false unfortunately + Assert.assertTrue(Double.isNaN(actual)); + else if ( Double.isInfinite(expected) ) // NaN == NaN => false unfortunately + Assert.assertTrue(Double.isInfinite(actual)); + else { + final double delta = Math.abs(actual - expected); + final double ratio = Math.abs(actual / expected - 1.0); + Assert.assertTrue(delta < tolerance || ratio < tolerance); + } + } } diff --git a/public/java/test/org/broadinstitute/sting/MD5DB.java b/public/java/test/org/broadinstitute/sting/MD5DB.java index c9f53c581..22388f3a2 100644 --- a/public/java/test/org/broadinstitute/sting/MD5DB.java +++ b/public/java/test/org/broadinstitute/sting/MD5DB.java @@ -25,14 +25,13 @@ package org.broadinstitute.sting; import org.apache.commons.io.FileUtils; +import org.apache.log4j.Logger; import org.broadinstitute.sting.gatk.walkers.diffengine.DiffEngine; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; -import org.testng.Assert; import java.io.*; import java.math.BigInteger; import java.security.MessageDigest; -import java.security.NoSuchAlgorithmException; import java.util.Arrays; /** @@ -44,13 +43,46 @@ import java.util.Arrays; * Utilities for manipulating the MD5 database of previous results */ public class MD5DB { + public static final Logger logger = Logger.getLogger(MD5DB.class); + /** * Subdirectory under the ant build directory where we store integration test md5 results */ - private static final int MAX_RECORDS_TO_READ = 10000; + private static final int MAX_RECORDS_TO_READ = 1000000; + private static final int MAX_RAW_DIFFS_TO_SUMMARIZE = -1; public static final String LOCAL_MD5_DB_DIR = "integrationtests"; public static final String GLOBAL_MD5_DB_DIR = "/humgen/gsa-hpprojects/GATK/data/integrationtests"; + // tracking and emitting a data file of origina and new md5s + private final File MD5MismatchesFile; + private final PrintStream md5MismatchStream; + + public MD5DB() { + this(new File(MD5DB.LOCAL_MD5_DB_DIR + "/md5mismatches.txt")); + } + + public MD5DB(final File MD5MismatchesFile) { + this.MD5MismatchesFile = MD5MismatchesFile; + + ensureMd5DbDirectory(); + + logger.debug("Creating md5 mismatch db at " + MD5MismatchesFile); + try { + md5MismatchStream = new PrintStream(new FileOutputStream(MD5MismatchesFile)); + md5MismatchStream.printf("%s\t%s\t%s%n", "expected", "observed", "test"); + } catch ( FileNotFoundException e ) { + throw new ReviewedStingException("Failed to open md5 mismatch file", e); + } + + } + + public void close() { + if ( md5MismatchStream != null ) { + logger.debug("Closeing md5 mismatch db at " + MD5MismatchesFile); + md5MismatchStream.close(); + } + } + // ---------------------------------------------------------------------- // // MD5 DB stuff @@ -60,7 +92,7 @@ public class MD5DB { /** * Create the MD5 file directories if necessary */ - protected static void ensureMd5DbDirectory() { + private void ensureMd5DbDirectory() { File dir = new File(LOCAL_MD5_DB_DIR); if ( ! dir.exists() ) { System.out.printf("##### Creating MD5 db %s%n", LOCAL_MD5_DB_DIR); @@ -78,7 +110,7 @@ public class MD5DB { * @param valueIfNotFound * @return */ - public static String getMD5FilePath(final String md5, final String valueIfNotFound) { + public String getMD5FilePath(final String md5, final String valueIfNotFound) { // we prefer the global db to the local DB, so match it first for ( String dir : Arrays.asList(GLOBAL_MD5_DB_DIR, LOCAL_MD5_DB_DIR)) { File f = getFileForMD5(md5, dir); @@ -98,7 +130,7 @@ public class MD5DB { * @param dbPath * @return */ - private static File getFileForMD5(final String md5, final String dbPath) { + private File getFileForMD5(final String md5, final String dbPath) { final String basename = String.format("%s.integrationtest", md5); return new File(dbPath + "/" + basename); } @@ -109,7 +141,7 @@ public class MD5DB { * @param md5 * @param resultsFile */ - private static void updateMD5Db(final String md5, final File resultsFile) { + private void updateMD5Db(final String md5, final File resultsFile) { copyFileToDB(getFileForMD5(md5, LOCAL_MD5_DB_DIR), resultsFile); copyFileToDB(getFileForMD5(md5, GLOBAL_MD5_DB_DIR), resultsFile); } @@ -119,7 +151,7 @@ public class MD5DB { * @param dbFile * @param resultsFile */ - private static void copyFileToDB(File dbFile, final File resultsFile) { + private void copyFileToDB(File dbFile, final File resultsFile) { if ( ! dbFile.exists() ) { // the file isn't already in the db, copy it over System.out.printf("##### Updating MD5 file: %s%n", dbFile.getPath()); @@ -171,12 +203,13 @@ public class MD5DB { } public static class MD5Match { - final String md5; + final String actualMD5, expectedMD5; final String failMessage; boolean failed; - public MD5Match(final String md5, final String failMessage, final boolean failed) { - this.md5 = md5; + public MD5Match(final String actualMD5, final String expectedMD5, final String failMessage, final boolean failed) { + this.actualMD5 = actualMD5; + this.expectedMD5 = expectedMD5; this.failMessage = failMessage; this.failed = failed; } @@ -190,21 +223,21 @@ public class MD5DB { * @param parameterize If true or if expectedMD5 is an empty string, will print out the calculated MD5 instead of error text. * @return The calculated MD5. */ - public static MD5Match assertMatchingMD5(final String name, final File resultsFile, final String expectedMD5, final boolean parameterize) { - final String filemd5sum = testFileMD5(name, resultsFile, expectedMD5, parameterize); + public MD5Match assertMatchingMD5(final String name, final File resultsFile, final String expectedMD5, final boolean parameterize) { + final String actualMD5 = testFileMD5(name, resultsFile, expectedMD5, parameterize); String failMessage = null; boolean failed = false; if (parameterize || expectedMD5.equals("")) { // Don't assert - } else if ( filemd5sum.equals(expectedMD5) ) { - System.out.println(String.format(" => %s PASSED (expected=%s)", name, expectedMD5)); + } else if ( actualMD5.equals(expectedMD5) ) { + //BaseTest.log(String.format(" => %s PASSED (expected=%s)", name, expectedMD5)); } else { failed = true; - failMessage = String.format("%s has mismatching MD5s: expected=%s observed=%s", name, expectedMD5, filemd5sum); + failMessage = String.format("%s has mismatching MD5s: expected=%s observed=%s", name, expectedMD5, actualMD5); } - return new MD5Match(filemd5sum, failMessage, failed); + return new MD5Match(actualMD5, expectedMD5, failMessage, failed); } @@ -216,7 +249,7 @@ public class MD5DB { * @param parameterize If true or if expectedMD5 is an empty string, will print out the calculated MD5 instead of error text. * @return The calculated MD5. */ - public static String testFileMD5(final String name, final File resultsFile, final String expectedMD5, final boolean parameterize) { + public String testFileMD5(final String name, final File resultsFile, final String expectedMD5, final boolean parameterize) { try { byte[] bytesOfMessage = getBytesFromFile(resultsFile); byte[] thedigest = MessageDigest.getInstance("MD5").digest(bytesOfMessage); @@ -230,8 +263,7 @@ public class MD5DB { updateMD5Db(filemd5sum, resultsFile); if (parameterize || expectedMD5.equals("")) { - System.out.println(String.format("PARAMETERIZATION[%s]: file %s has md5 = %s, stated expectation is %s, equal? = %b", - name, resultsFile, filemd5sum, expectedMD5, filemd5sum.equals(expectedMD5))); + BaseTest.log(String.format("PARAMETERIZATION: file %s has md5 = %s", resultsFile, filemd5sum)); } else { //System.out.println(String.format("Checking MD5 for %s [calculated=%s, expected=%s]", resultsFile, filemd5sum, expectedMD5)); //System.out.flush(); @@ -242,16 +274,25 @@ public class MD5DB { System.out.printf("##### Test %s is going to fail #####%n", name); String pathToExpectedMD5File = getMD5FilePath(expectedMD5, "[No DB file found]"); String pathToFileMD5File = getMD5FilePath(filemd5sum, "[No DB file found]"); - System.out.printf("##### Path to expected file (MD5=%s): %s%n", expectedMD5, pathToExpectedMD5File); - System.out.printf("##### Path to calculated file (MD5=%s): %s%n", filemd5sum, pathToFileMD5File); - System.out.printf("##### Diff command: diff %s %s%n", pathToExpectedMD5File, pathToFileMD5File); + BaseTest.log(String.format("expected %s", expectedMD5)); + BaseTest.log(String.format("calculated %s", filemd5sum)); + BaseTest.log(String.format("diff %s %s", pathToExpectedMD5File, pathToFileMD5File)); + + md5MismatchStream.printf("%s\t%s\t%s%n", expectedMD5, filemd5sum, name); + md5MismatchStream.flush(); // inline differences - DiffEngine.SummaryReportParams params = new DiffEngine.SummaryReportParams(System.out, 20, 10, 0); + final ByteArrayOutputStream baos = new ByteArrayOutputStream(); + final PrintStream ps = new PrintStream(baos); + DiffEngine.SummaryReportParams params = new DiffEngine.SummaryReportParams(ps, 20, 10, 0, MAX_RAW_DIFFS_TO_SUMMARIZE, false); boolean success = DiffEngine.simpleDiffFiles(new File(pathToExpectedMD5File), new File(pathToFileMD5File), MAX_RECORDS_TO_READ, params); - if ( success ) + if ( success ) { + final String content = baos.toString(); + BaseTest.log(content); System.out.printf("Note that the above list is not comprehensive. At most 20 lines of output, and 10 specific differences will be listed. Please use -T DiffObjects -R public/testdata/exampleFASTA.fasta -m %s -t %s to explore the differences more freely%n", pathToExpectedMD5File, pathToFileMD5File); + } + ps.close(); } } diff --git a/public/java/test/org/broadinstitute/sting/MD5Mismatch.java b/public/java/test/org/broadinstitute/sting/MD5Mismatch.java new file mode 100644 index 000000000..cc1344d55 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/MD5Mismatch.java @@ -0,0 +1,63 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting; + +import java.util.Collections; +import java.util.List; + +/** + * Assertion failure representing an MD5 mismatch between expected and actual + * + * @author Your Name + * @since Date created + */ +public class MD5Mismatch extends Exception { + final List actuals, expecteds; + + public MD5Mismatch(final String actual, final String expected) { + this(Collections.singletonList(actual), Collections.singletonList(expected)); + } + + public MD5Mismatch(final List actuals, final List expecteds) { + super(formatMessage(actuals, expecteds)); + this.actuals = actuals; + this.expecteds = expecteds; + } + + @Override + public String toString() { + return formatMessage(actuals, expecteds); + } + + private final static String formatMessage(final List actuals, final List expecteds) { + final StringBuilder b = new StringBuilder("MD5 mismatch: "); + for ( int i = 0; i < actuals.size(); i++ ) { + if ( i > 1 ) b.append("\t\t\n"); + b.append("actual ").append(actuals.get(i)); + b.append(" expected ").append(expecteds.get(i)); + } + return b.toString(); + } +} diff --git a/public/java/test/org/broadinstitute/sting/WalkerTest.java b/public/java/test/org/broadinstitute/sting/WalkerTest.java index f477fedc9..a997385d6 100755 --- a/public/java/test/org/broadinstitute/sting/WalkerTest.java +++ b/public/java/test/org/broadinstitute/sting/WalkerTest.java @@ -34,30 +34,63 @@ import org.broadinstitute.sting.gatk.CommandLineGATK; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.phonehome.GATKRunReport; import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Utils; import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.StingException; +import org.broadinstitute.sting.utils.variantcontext.VariantContextTestProvider; + +import java.io.*; + import org.testng.Assert; +import org.testng.annotations.AfterSuite; import org.testng.annotations.BeforeMethod; -import java.io.File; +import java.text.SimpleDateFormat; import java.util.*; public class WalkerTest extends BaseTest { + private static final boolean GENERATE_SHADOW_BCF = true; private static final boolean ENABLE_PHONE_HOME_FOR_TESTS = false; private static final boolean ENABLE_ON_THE_FLY_CHECK_FOR_VCF_INDEX = false; + private static MD5DB md5DB = new MD5DB(); + @BeforeMethod - public void initializeRandomGenerator() { + public void initializeWalkerTests() { + logger.debug("Initializing walker tests"); GenomeAnalysisEngine.resetRandomGenerator(); } - public MD5DB.MD5Match assertMatchingMD5(final String name, final File resultsFile, final String expectedMD5) { - return MD5DB.assertMatchingMD5(name, resultsFile, expectedMD5, parameterize()); + @AfterSuite + public void finalizeWalkerTests() { + logger.debug("Finalizing walker tests"); + md5DB.close(); } - public void maybeValidateSupplementaryFile(final String name, final File resultFile) { + public static MD5DB getMd5DB() { + return md5DB; + } + + public MD5DB.MD5Match assertMatchingMD5(final String name, final File resultsFile, final String expectedMD5) { + return getMd5DB().assertMatchingMD5(name, resultsFile, expectedMD5, parameterize()); + } + + public void validateOutputBCFIfPossible(final String name, final File resultFile) { + final File bcfFile = BCF2Utils.shadowBCF(resultFile); + if ( bcfFile != null && bcfFile.exists() ) { + logger.warn("Checking shadow BCF output file " + bcfFile + " against VCF file " + resultFile); + try { + VariantContextTestProvider.assertVCFandBCFFilesAreTheSame(resultFile, bcfFile); + logger.warn(" Shadow BCF PASSED!"); + } catch ( Exception e ) { + Assert.fail("Exception received reading shadow BCFFile " + bcfFile + " for test " + name, e); + } + } + } + + public void validateOutputIndex(final String name, final File resultFile) { if ( !ENABLE_ON_THE_FLY_CHECK_FOR_VCF_INDEX ) return; @@ -69,20 +102,15 @@ public class WalkerTest extends BaseTest { throw new StingException("Found an index created for file " + resultFile + " but we can only validate VCF files. Extend this code!"); } - assertOnDiskIndexEqualToNewlyCreatedIndex(indexFile, name, resultFile); - } - } + System.out.println("Verifying on-the-fly index " + indexFile + " for test " + name + " using file " + resultFile); + Index indexFromOutputFile = IndexFactory.createDynamicIndex(resultFile, new VCFCodec()); + Index dynamicIndex = IndexFactory.loadIndex(indexFile.getAbsolutePath()); - - public static void assertOnDiskIndexEqualToNewlyCreatedIndex(final File indexFile, final String name, final File resultFile) { - System.out.println("Verifying on-the-fly index " + indexFile + " for test " + name + " using file " + resultFile); - Index indexFromOutputFile = IndexFactory.createIndex(resultFile, new VCFCodec()); - Index dynamicIndex = IndexFactory.loadIndex(indexFile.getAbsolutePath()); - - if ( ! indexFromOutputFile.equalsIgnoreProperties(dynamicIndex) ) { - Assert.fail(String.format("Index on disk from indexing on the fly not equal to the index created after the run completed. FileIndex %s vs. on-the-fly %s%n", - indexFromOutputFile.getProperties(), - dynamicIndex.getProperties())); + if ( ! indexFromOutputFile.equalsIgnoreProperties(dynamicIndex) ) { + Assert.fail(String.format("Index on disk from indexing on the fly not equal to the index created after the run completed. FileIndex %s vs. on-the-fly %s%n", + indexFromOutputFile.getProperties(), + dynamicIndex.getProperties())); + } } } @@ -92,19 +120,26 @@ public class WalkerTest extends BaseTest { for (int i = 0; i < resultFiles.size(); i++) { MD5DB.MD5Match result = assertMatchingMD5(name, resultFiles.get(i), expectedMD5s.get(i)); + validateOutputBCFIfPossible(name, resultFiles.get(i)); if ( ! result.failed ) { - maybeValidateSupplementaryFile(name, resultFiles.get(i)); - md5s.add(result.md5); + validateOutputIndex(name, resultFiles.get(i)); + md5s.add(result.expectedMD5); } else { fails.add(result); } } if ( ! fails.isEmpty() ) { + List actuals = new ArrayList(); + List expecteds = new ArrayList(); for ( final MD5DB.MD5Match fail : fails ) { + actuals.add(fail.actualMD5); + expecteds.add(fail.expectedMD5); logger.warn("Fail: " + fail.failMessage); } - Assert.fail("Test failed: " + name); + + final MD5Mismatch failure = new MD5Mismatch(actuals, expecteds); + Assert.fail(failure.toString(), failure); } return md5s; @@ -125,19 +160,16 @@ public class WalkerTest extends BaseTest { } public class WalkerTestSpec { - // Arguments implicitly included in all Walker command lines, unless explicitly // disabled using the disableImplicitArgs() method below. - final String IMPLICIT_ARGS = ENABLE_PHONE_HOME_FOR_TESTS ? - String.format("-et %s", GATKRunReport.PhoneHomeOption.STANDARD) : - String.format("-et %s -K %s", GATKRunReport.PhoneHomeOption.NO_ET, gatkKeyFile); - String args = ""; int nOutputFiles = -1; List md5s = null; List exts = null; Class expectedException = null; boolean includeImplicitArgs = true; + boolean includeShadowBCF = true; + boolean repairHeader = false; // the default output path for the integration test private File outputFileLocation = null; @@ -172,9 +204,27 @@ public class WalkerTest extends BaseTest { } public String getArgsWithImplicitArgs() { - return args + (includeImplicitArgs ? " " + IMPLICIT_ARGS : ""); + String args = this.args; + if ( includeImplicitArgs ) { + args = args + (ENABLE_PHONE_HOME_FOR_TESTS ? + String.format(" -et %s ", GATKRunReport.PhoneHomeOption.STANDARD) : + String.format(" -et %s -K %s ", GATKRunReport.PhoneHomeOption.NO_ET, gatkKeyFile)); + if ( includeShadowBCF && GENERATE_SHADOW_BCF ) + args = args + " --generateShadowBCF "; + if ( repairHeader ) + args = args + " --repairVCFHeader public/data/vcfHeaderForRepairs.vcf "; + } + + return args; } + /** + * In the case where the input VCF files are malformed and cannot be fixed + * this function tells the engine to not try to generate a shadow BCF + * which will ultimately blow up... + */ + public void disableShadowBCF() { this.includeShadowBCF = false; } + public void repairHeaders() { this.repairHeader = true; } public void setOutputFileLocation(File outputFileLocation) { this.outputFileLocation = outputFileLocation; } @@ -223,8 +273,6 @@ public class WalkerTest extends BaseTest { } protected Pair, List> executeTest(final String name, WalkerTestSpec spec) { - MD5DB.ensureMd5DbDirectory(); // ensure the md5 directory exists - List tmpFiles = new ArrayList(); for (int i = 0; i < spec.nOutputFiles; i++) { String ext = spec.exts == null ? ".tmp" : "." + spec.exts.get(i); @@ -303,16 +351,21 @@ public class WalkerTest extends BaseTest { // run the executable boolean gotAnException = false; try { - System.out.println(String.format("Executing test %s with GATK arguments: %s", name, Utils.join(" ",command))); + final String now = new SimpleDateFormat("HH:mm:ss").format(new Date()); + final String cmdline = Utils.join(" ",command); + System.out.println(String.format("[%s] Executing test %s with GATK arguments: %s", now, name, cmdline)); + // also write the command line to the HTML log for convenient follow-up + // do the replaceAll so paths become relative to the current + BaseTest.log(cmdline.replaceAll(publicTestDirRoot, "").replaceAll(privateTestDirRoot, "")); CommandLineExecutable.start(instance, command); } catch (Exception e) { gotAnException = true; if ( expectedException != null ) { // we expect an exception - System.out.println(String.format("Wanted exception %s, saw %s", expectedException, e.getClass())); + //System.out.println(String.format("Wanted exception %s, saw %s", expectedException, e.getClass())); if ( expectedException.isInstance(e) ) { // it's the type we expected - System.out.println(String.format(" => %s PASSED", name)); + //System.out.println(String.format(" => %s PASSED", name)); } else { if ( e.getCause() != null ) e.getCause().printStackTrace(System.out); // must print to stdout to see the message @@ -342,5 +395,5 @@ public class WalkerTest extends BaseTest { File fl = new File(name); fl.deleteOnExit(); return fl; - } + } } diff --git a/public/java/test/org/broadinstitute/sting/commandline/ParsingEngineUnitTest.java b/public/java/test/org/broadinstitute/sting/commandline/ParsingEngineUnitTest.java index 87f0e6ff0..be2e91557 100755 --- a/public/java/test/org/broadinstitute/sting/commandline/ParsingEngineUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/commandline/ParsingEngineUnitTest.java @@ -764,23 +764,6 @@ public class ParsingEngineUnitTest extends BaseTest { Assert.assertEquals(argProvider.binding.getTags().getPositionalTags().size(), 1, "Tags aren't correctly set"); } - @Test - public void variantContextBindingArgumentTestVCF3() { - final String[] commandLine = new String[] {"-V:vcf3",NON_EXISTANT_FILENAME_VCF}; - - parsingEngine.addArgumentSource( VariantContextRodBindingArgProvider.class ); - parsingEngine.parse( commandLine ); - parsingEngine.validate(); - - VariantContextRodBindingArgProvider argProvider = new VariantContextRodBindingArgProvider(); - parsingEngine.loadArgumentsIntoObject( argProvider ); - - Assert.assertEquals(argProvider.binding.getName(), "binding", "Name isn't set properly"); - Assert.assertEquals(argProvider.binding.getSource(), NON_EXISTANT_FILENAME_VCF, "Source isn't set to its expected value"); - Assert.assertEquals(argProvider.binding.getType(), VariantContext.class, "Type isn't set to its expected value"); - Assert.assertEquals(argProvider.binding.getTags().getPositionalTags().size(), 1, "Tags aren't correctly set"); - } - private class ListRodBindingArgProvider { @Input(fullName = "binding", shortName="V", required=false) public List> bindings; @@ -861,8 +844,8 @@ public class ParsingEngineUnitTest extends BaseTest { Assert.assertEquals(argProvider.bindings.get(1).getName(), "foo2", "Name isn't set properly"); } - private final static String HISEQ_VCF = testDir + "HiSeq.10000.vcf"; - private final static String TRANCHES_FILE = testDir + "tranches.6.txt"; + private final static String HISEQ_VCF = privateTestDir + "HiSeq.10000.vcf"; + private final static String TRANCHES_FILE = privateTestDir + "tranches.6.txt"; @Test public void variantContextBindingTestDynamicTyping1() { diff --git a/public/java/test/org/broadinstitute/sting/gatk/CommandLineGATKUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/CommandLineGATKUnitTest.java new file mode 100644 index 000000000..5de48fda9 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/CommandLineGATKUnitTest.java @@ -0,0 +1,43 @@ +package org.broadinstitute.sting.gatk; + +import net.sf.samtools.SAMFileReader; +import org.broadinstitute.sting.BaseTest; +import org.testng.Assert; +import org.testng.annotations.Test; + +import java.io.File; + +/** + * @author Eric Banks + * @since 7/18/12 + */ +public class CommandLineGATKUnitTest extends BaseTest { + + @Test(enabled = true) + public void testSamTextFileError1() { + final File samFile = new File(publicTestDir + "testfile.sam"); + final File indexFile = new File(publicTestDir + "HiSeq.1mb.1RG.bai"); + try { + final SAMFileReader reader = new SAMFileReader(samFile, indexFile, false); + + // we shouldn't get here + Assert.fail("We should have exceptioned out when trying to create a reader with an index for a textual SAM file"); + } catch (RuntimeException e) { + Assert.assertTrue(e.getMessage().indexOf(CommandLineGATK.PICARD_TEXT_SAM_FILE_ERROR_1) != -1); + } + } + + @Test(enabled = true) + public void testSamTextFileError2() { + File samFile = new File(publicTestDir + "testfile.sam"); + try { + final SAMFileReader reader = new SAMFileReader(samFile); + reader.getFilePointerSpanningReads(); + + // we shouldn't get here + Assert.fail("We should have exceptioned out when trying to call getFilePointerSpanningReads() for a textual SAM file"); + } catch (RuntimeException e) { + Assert.assertTrue(e.getMessage().indexOf(CommandLineGATK.PICARD_TEXT_SAM_FILE_ERROR_2) != -1); + } + } +} diff --git a/public/java/test/org/broadinstitute/sting/gatk/EngineFeaturesIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/EngineFeaturesIntegrationTest.java index 68bd28d7a..01af55ca3 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/EngineFeaturesIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/EngineFeaturesIntegrationTest.java @@ -47,10 +47,6 @@ public class EngineFeaturesIntegrationTest extends WalkerTest { testBadRODBindingInput("beagle", "BEAGLE input to VCF expecting walker", UserException.BadArgumentValue.class); } - @Test() private void testBadRODBindingInputType2() { - testBadRODBindingInput("vcf3", "VCF3 input to VCF expecting walker", UserException.class); - } - @Test() private void testBadRODBindingInputType3() { testBadRODBindingInput("bed", "Bed input to VCF expecting walker", UserException.BadArgumentValue.class); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/GenomeAnalysisEngineUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/GenomeAnalysisEngineUnitTest.java index 3ce62b697..d8905ad35 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/GenomeAnalysisEngineUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/GenomeAnalysisEngineUnitTest.java @@ -24,32 +24,17 @@ package org.broadinstitute.sting.gatk; -import net.sf.picard.reference.IndexedFastaSequenceFile; -import net.sf.picard.util.Interval; -import net.sf.picard.util.IntervalList; -import net.sf.samtools.SAMFileHeader; -import org.broad.tribble.Feature; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.commandline.ArgumentException; -import org.broadinstitute.sting.commandline.IntervalBinding; -import org.broadinstitute.sting.gatk.arguments.GATKArgumentCollection; -import org.broadinstitute.sting.gatk.datasources.reads.SAMReaderID; import org.broadinstitute.sting.commandline.Tags; -import org.broadinstitute.sting.gatk.walkers.PrintReadsWalker; -import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.gatk.datasources.reads.SAMReaderID; +import org.broadinstitute.sting.gatk.walkers.PrintReads; import org.broadinstitute.sting.utils.GenomeLocSortedSet; - -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.interval.IntervalSetRule; -import org.testng.annotations.DataProvider; import org.testng.annotations.Test; import java.io.File; -import java.io.PrintWriter; import java.util.ArrayList; import java.util.Collection; -import java.util.List; - /** * Tests selected functionality in the GenomeAnalysisEngine class @@ -86,70 +71,9 @@ public class GenomeAnalysisEngineUnitTest extends BaseTest { public void testEmptyIntervalSetHandling() throws Exception { GenomeAnalysisEngine testEngine = new GenomeAnalysisEngine(); - testEngine.setWalker(new PrintReadsWalker()); + testEngine.setWalker(new PrintReads()); testEngine.setIntervals(new GenomeLocSortedSet(null)); testEngine.validateSuppliedIntervals(); } - - @DataProvider(name="invalidIntervalTestData") - public Object[][] invalidIntervalDataProvider() throws Exception { - GenomeAnalysisEngine testEngine = new GenomeAnalysisEngine(); - GATKArgumentCollection argCollection = new GATKArgumentCollection(); - testEngine.setArguments(argCollection); - - File fastaFile = new File("public/testdata/exampleFASTA.fasta"); - GenomeLocParser genomeLocParser = new GenomeLocParser(new IndexedFastaSequenceFile(fastaFile)); - testEngine.setGenomeLocParser(genomeLocParser); - - return new Object[][] { - new Object[] {testEngine, genomeLocParser, "chr1", 10000000, 20000000}, - new Object[] {testEngine, genomeLocParser, "chr2", 1, 2}, - new Object[] {testEngine, genomeLocParser, "chr1", -1, 50} - }; - } - - @Test(dataProvider="invalidIntervalTestData") - public void testInvalidPicardIntervalHandling(GenomeAnalysisEngine testEngine, GenomeLocParser genomeLocParser, - String contig, int intervalStart, int intervalEnd ) throws Exception { - - SAMFileHeader picardFileHeader = new SAMFileHeader(); - picardFileHeader.addSequence(genomeLocParser.getContigInfo("chr1")); - IntervalList picardIntervals = new IntervalList(picardFileHeader); - picardIntervals.add(new Interval(contig, intervalStart, intervalEnd, true, "dummyname")); - - File picardIntervalFile = createTempFile("testInvalidPicardIntervalHandling", ".intervals"); - picardIntervals.write(picardIntervalFile); - - List> intervalArgs = new ArrayList>(1); - intervalArgs.add(new IntervalBinding(picardIntervalFile.getAbsolutePath())); - - testEngine.loadIntervals(intervalArgs, IntervalSetRule.UNION); - } - - @Test(expectedExceptions=UserException.class, dataProvider="invalidIntervalTestData") - public void testInvalidGATKFileIntervalHandling(GenomeAnalysisEngine testEngine, GenomeLocParser genomeLocParser, - String contig, int intervalStart, int intervalEnd ) throws Exception { - - File gatkIntervalFile = createTempFile("testInvalidGATKFileIntervalHandling", ".intervals", - String.format("%s:%d-%d", contig, intervalStart, intervalEnd)); - - List> intervalArgs = new ArrayList>(1); - intervalArgs.add(new IntervalBinding(gatkIntervalFile.getAbsolutePath())); - - testEngine.loadIntervals(intervalArgs, IntervalSetRule.UNION); - } - - private File createTempFile( String tempFilePrefix, String tempFileExtension, String... lines ) throws Exception { - File tempFile = File.createTempFile(tempFilePrefix, tempFileExtension); - tempFile.deleteOnExit(); - - PrintWriter out = new PrintWriter(tempFile); - for ( String line : lines ) { - out.println(line); - } - out.close(); - - return tempFile; - } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/WalkerManagerUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/WalkerManagerUnitTest.java index 6149a1e51..1eb340356 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/WalkerManagerUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/WalkerManagerUnitTest.java @@ -24,13 +24,12 @@ package org.broadinstitute.sting.gatk; -import org.testng.Assert; import org.broadinstitute.sting.commandline.Hidden; import org.broadinstitute.sting.gatk.walkers.Walker; -import org.broadinstitute.sting.gatk.walkers.qc.CountLociWalker; +import org.broadinstitute.sting.gatk.walkers.qc.CountLoci; import org.broadinstitute.sting.utils.exceptions.DynamicClassResolutionException; import org.broadinstitute.sting.utils.exceptions.UserException; - +import org.testng.Assert; import org.testng.annotations.BeforeClass; import org.testng.annotations.Test; @@ -48,7 +47,7 @@ public class WalkerManagerUnitTest { @Test public void testPresentWalker() { Walker countLociWalker = walkerManager.createByName("CountLoci"); - Assert.assertEquals(CountLociWalker.class,countLociWalker.getClass()); + Assert.assertEquals(CountLoci.class,countLociWalker.getClass()); } @Test(expectedExceptions=UserException.class) @@ -58,7 +57,7 @@ public class WalkerManagerUnitTest { @Test(expectedExceptions=DynamicClassResolutionException.class) public void testUninstantiableWalker() { - walkerManager.createByName("Uninstantiable"); + walkerManager.createByName("UninstantiableWalker"); } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/datasources/providers/ReferenceOrderedViewUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/datasources/providers/ReferenceOrderedViewUnitTest.java index 85ae1e1f7..d75beae23 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/datasources/providers/ReferenceOrderedViewUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/datasources/providers/ReferenceOrderedViewUnitTest.java @@ -79,7 +79,7 @@ public class ReferenceOrderedViewUnitTest extends BaseTest { */ @Test public void testSingleBinding() { - String fileName = testDir + "TabularDataTest.dat"; + String fileName = privateTestDir + "TabularDataTest.dat"; RMDTriplet triplet = new RMDTriplet("tableTest","Table",fileName,RMDStorageType.FILE,new Tags()); ReferenceOrderedDataSource dataSource = new ReferenceOrderedDataSource(triplet,builder,seq.getSequenceDictionary(),genomeLocParser,false); @@ -101,7 +101,7 @@ public class ReferenceOrderedViewUnitTest extends BaseTest { */ @Test public void testMultipleBinding() { - File file = new File(testDir + "TabularDataTest.dat"); + File file = new File(privateTestDir + "TabularDataTest.dat"); RMDTriplet testTriplet1 = new RMDTriplet("tableTest1","Table",file.getAbsolutePath(),RMDStorageType.FILE,new Tags()); ReferenceOrderedDataSource dataSource1 = new ReferenceOrderedDataSource(testTriplet1,builder,seq.getSequenceDictionary(),genomeLocParser,false); diff --git a/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndexUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndexUnitTest.java index 8cf9f7ce0..f81e16e7f 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndexUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndexUnitTest.java @@ -94,13 +94,13 @@ public class GATKBAMIndexUnitTest extends BaseTest { @Test( expectedExceptions = UserException.MalformedFile.class ) public void testDetectTruncatedBamIndexWordBoundary() { - GATKBAMIndex index = new GATKBAMIndex(new File(validationDataLocation + "truncated_at_word_boundary.bai")); + GATKBAMIndex index = new GATKBAMIndex(new File(privateTestDir + "truncated_at_word_boundary.bai")); index.readReferenceSequence(0); } @Test( expectedExceptions = UserException.MalformedFile.class ) public void testDetectTruncatedBamIndexNonWordBoundary() { - GATKBAMIndex index = new GATKBAMIndex(new File(validationDataLocation + "truncated_at_non_word_boundary.bai")); + GATKBAMIndex index = new GATKBAMIndex(new File(privateTestDir + "truncated_at_non_word_boundary.bai")); index.readReferenceSequence(0); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/GATKWalkerBenchmark.java b/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/GATKWalkerBenchmark.java index 564d1e2a3..66585c872 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/GATKWalkerBenchmark.java +++ b/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/GATKWalkerBenchmark.java @@ -35,8 +35,8 @@ import org.broadinstitute.sting.gatk.refdata.ReadMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.utils.RMDTriplet; import org.broadinstitute.sting.gatk.walkers.ReadWalker; import org.broadinstitute.sting.gatk.walkers.Walker; -import org.broadinstitute.sting.gatk.walkers.qc.CountLociWalker; -import org.broadinstitute.sting.gatk.walkers.qc.CountReadsWalker; +import org.broadinstitute.sting.gatk.walkers.qc.CountLoci; +import org.broadinstitute.sting.gatk.walkers.qc.CountReads; import org.broadinstitute.sting.utils.classloader.JVMUtils; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; @@ -99,7 +99,7 @@ public class GATKWalkerBenchmark extends ReadProcessingBenchmark { private enum WalkerType { COUNT_READS { @Override - Walker create() { return new CountReadsWalker(); } + Walker create() { return new CountReads(); } }, COUNT_BASES_IN_READ { @Override @@ -108,8 +108,8 @@ public class GATKWalkerBenchmark extends ReadProcessingBenchmark { COUNT_LOCI { @Override Walker create() { - CountLociWalker walker = new CountLociWalker(); - JVMUtils.setFieldValue(JVMUtils.findField(CountLociWalker.class,"out"),walker,System.out); + CountLoci walker = new CountLoci(); + JVMUtils.setFieldValue(JVMUtils.findField(CountLoci.class,"out"),walker,System.out); return walker; } }; diff --git a/public/java/test/org/broadinstitute/sting/gatk/datasources/rmd/ReferenceOrderedDataPoolUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/datasources/rmd/ReferenceOrderedDataPoolUnitTest.java index d45f6e667..1a6b31df4 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/datasources/rmd/ReferenceOrderedDataPoolUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/datasources/rmd/ReferenceOrderedDataPoolUnitTest.java @@ -68,10 +68,10 @@ public class ReferenceOrderedDataPoolUnitTest extends BaseTest { @BeforeMethod public void setUp() { - String fileName = testDir + "TabularDataTest.dat"; + String fileName = privateTestDir + "TabularDataTest.dat"; // check to see if we have an index, if so, delete it - File indexFileName = new File(testDir + "TabularDataTest.dat.idx"); + File indexFileName = new File(privateTestDir + "TabularDataTest.dat.idx"); if (indexFileName.exists()) indexFileName.delete(); triplet = new RMDTriplet("tableTest","Table",fileName,RMDStorageType.FILE,new Tags()); diff --git a/public/java/test/org/broadinstitute/sting/gatk/datasources/rmd/ReferenceOrderedQueryDataPoolUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/datasources/rmd/ReferenceOrderedQueryDataPoolUnitTest.java new file mode 100644 index 000000000..d7f8e1554 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/datasources/rmd/ReferenceOrderedQueryDataPoolUnitTest.java @@ -0,0 +1,88 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.datasources.rmd; + +import net.sf.picard.reference.IndexedFastaSequenceFile; +import org.broad.tribble.Feature; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.commandline.Tags; +import org.broadinstitute.sting.gatk.refdata.utils.*; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; +import org.testng.Assert; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.IOException; +import java.util.List; + +public class ReferenceOrderedQueryDataPoolUnitTest extends BaseTest{ + @Test + public void testCloseFilePointers() throws IOException { + // Build up query parameters + File file = new File(BaseTest.privateTestDir + "NA12878.hg19.example1.vcf"); + RMDTriplet triplet = new RMDTriplet("test", "VCF", file.getAbsolutePath(), RMDTriplet.RMDStorageType.FILE, new Tags()); + IndexedFastaSequenceFile seq = new CachingIndexedFastaSequenceFile(new File(BaseTest.hg19Reference)); + GenomeLocParser parser = new GenomeLocParser(seq); + GenomeLoc loc = parser.createGenomeLoc("20", 1, 100000); + TestRMDTrackBuilder builder = new TestRMDTrackBuilder(seq.getSequenceDictionary(), parser); + + // Create the query data pool + ReferenceOrderedQueryDataPool pool = new ReferenceOrderedQueryDataPool(triplet, builder, seq.getSequenceDictionary(), parser); + + for (int i = 0; i < 3; i++) { + // Ensure our tribble iterators are closed. + CheckableCloseableTribbleIterator.clearThreadIterators(); + Assert.assertTrue(CheckableCloseableTribbleIterator.getThreadIterators().isEmpty(), "Tribble iterators list was not cleared."); + + // Request the the rodIterator + LocationAwareSeekableRODIterator rodIterator = pool.iterator(new MappedStreamSegment(loc)); + + // Run normal iteration over rodIterator + Assert.assertTrue(rodIterator.hasNext(), "Rod iterator does not have a next value."); + GenomeLoc rodIteratorLocation = rodIterator.next().getLocation(); + Assert.assertEquals(rodIteratorLocation.getContig(), "20", "Instead of chr 20 rod iterator was at location " + rodIteratorLocation); + + // Check that the underlying tribbleIterators are still open. + List> tribbleIterators = CheckableCloseableTribbleIterator.getThreadIterators(); + Assert.assertFalse(tribbleIterators.isEmpty(), "Tribble iterators list is empty"); + for (CheckableCloseableTribbleIterator tribbleIterator: tribbleIterators) { + Assert.assertFalse(tribbleIterator.isClosed(), "Tribble iterator is closed but should be still open."); + } + + // Releasing the rodIterator should close the underlying tribbleIterator. + pool.release(rodIterator); + + // Check that the underlying tribbleIterators are now closed. + for (CheckableCloseableTribbleIterator tribbleIterator: tribbleIterators) { + Assert.assertTrue(tribbleIterator.isClosed(), "Tribble iterator is open but should be now closed."); + } + } + + // Extra cleanup. + CheckableCloseableTribbleIterator.clearThreadIterators(); + } +} diff --git a/public/java/test/org/broadinstitute/sting/gatk/downsampling/DownsamplingReadsIteratorUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/downsampling/DownsamplingReadsIteratorUnitTest.java new file mode 100644 index 000000000..b0de78b97 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/downsampling/DownsamplingReadsIteratorUnitTest.java @@ -0,0 +1,73 @@ +package org.broadinstitute.sting.gatk.downsampling; + +import net.sf.samtools.SAMFileHeader; +import net.sf.samtools.SAMRecord; +import org.broadinstitute.sting.gatk.iterators.StingSAMIterator; +import org.broadinstitute.sting.gatk.iterators.StingSAMIteratorAdapter; +import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; +import org.testng.Assert; +import org.testng.annotations.Test; + +import java.util.ArrayList; +import java.util.Collection; + +public class DownsamplingReadsIteratorUnitTest { + + @Test + public void testDownsamplingIteratorWithPositionalDownsampling() { + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + Collection reads = new ArrayList(); + + reads.addAll(createStackOfIdenticalReads(3000, header, "foo", 0, 1, 100)); + reads.addAll(createStackOfIdenticalReads(3000, header, "foo", 0, 50, 100)); + + StingSAMIterator iter = new DownsamplingReadsIterator(StingSAMIteratorAdapter.adapt(reads.iterator()), new PositionalDownsampler(1000)); + + Assert.assertTrue(iter.hasNext()); + SAMRecord previous = iter.next(); + int count = 1; + + while ( iter.hasNext() ) { + SAMRecord current = iter.next(); + Assert.assertTrue(previous.getAlignmentStart() <= current.getAlignmentStart() || ! previous.getReferenceIndex().equals(current.getReferenceIndex())); + count++; + previous = current; + } + + Assert.assertEquals(count, 1000); + } + + @Test + public void testDownsamplingIteratorNoEffectiveDownsampling() { + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + Collection reads = new ArrayList(); + + reads.addAll(createStackOfIdenticalReads(300, header, "foo", 0, 1, 100)); + reads.addAll(createStackOfIdenticalReads(300, header, "foo", 0, 50, 100)); + + StingSAMIterator iter = new DownsamplingReadsIterator(StingSAMIteratorAdapter.adapt(reads.iterator()), new PositionalDownsampler(1000)); + + Assert.assertTrue(iter.hasNext()); + SAMRecord previous = iter.next(); + int count = 1; + + while ( iter.hasNext() ) { + SAMRecord current = iter.next(); + Assert.assertTrue(previous.getAlignmentStart() <= current.getAlignmentStart() || ! previous.getReferenceIndex().equals(current.getReferenceIndex())); + count++; + previous = current; + } + + Assert.assertEquals(count, 600); + } + + private ArrayList createStackOfIdenticalReads( int stackSize, SAMFileHeader header, String name, int refIndex, int alignmentStart, int length ) { + ArrayList stack = new ArrayList(stackSize); + for ( int i = 1; i <= stackSize; i++ ) { + stack.add(ArtificialSAMUtils.createArtificialRead(header, name, refIndex, alignmentStart, length)); + } + return stack; + } +} diff --git a/public/java/test/org/broadinstitute/sting/gatk/downsampling/FractionalDownsamplerUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/downsampling/FractionalDownsamplerUnitTest.java new file mode 100644 index 000000000..0f4bae555 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/downsampling/FractionalDownsamplerUnitTest.java @@ -0,0 +1,65 @@ +package org.broadinstitute.sting.gatk.downsampling; + +import net.sf.samtools.SAMFileHeader; +import net.sf.samtools.SAMRecord; +import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; +import org.testng.annotations.Test; +import org.testng.Assert; + +import java.util.ArrayList; +import java.util.List; + +public class FractionalDownsamplerUnitTest { + + @Test + public void test100PercentInclusion() { + FractionalDownsampler downsampler = new FractionalDownsampler(1.0); + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + downsampler.submit(createRandomReads(1000, header, "foo", 0, 100000, 500)); + downsampler.signalEndOfInput(); + + List downsampledReads = downsampler.consumeDownsampledItems(); + + Assert.assertTrue(downsampledReads.size() == 1000); + } + + @Test + public void test0PercentInclusion() { + FractionalDownsampler downsampler = new FractionalDownsampler(0.0); + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + downsampler.submit(createRandomReads(1000, header, "foo", 0, 100000, 500)); + downsampler.signalEndOfInput(); + + List downsampledReads = downsampler.consumeDownsampledItems(); + + Assert.assertTrue(downsampledReads.isEmpty()); + } + + @Test + public void test50PercentInclusion() { + FractionalDownsampler downsampler = new FractionalDownsampler(0.5); + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + downsampler.submit(createRandomReads(5000, header, "foo", 0, 100000, 500)); + downsampler.signalEndOfInput(); + + List downsampledReads = downsampler.consumeDownsampledItems(); + + Assert.assertTrue(downsampledReads.size() >= 2000 && downsampledReads.size() <= 3000); + } + + private List createRandomReads( int numReads, SAMFileHeader header, String name, int contigIndex, int maxAlignmentStart, int maxLength ) { + List reads = new ArrayList(numReads); + + for ( int i = 1; i <= numReads; i++ ) { + reads.add(ArtificialSAMUtils.createArtificialRead(header, name, contigIndex, + GenomeAnalysisEngine.getRandomGenerator().nextInt(maxAlignmentStart) + 1, + GenomeAnalysisEngine.getRandomGenerator().nextInt(maxLength) + 1)); + } + + return reads; + } +} diff --git a/public/java/test/org/broadinstitute/sting/gatk/downsampling/PositionalDownsamplerUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/downsampling/PositionalDownsamplerUnitTest.java new file mode 100644 index 000000000..b1d8e45c9 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/downsampling/PositionalDownsamplerUnitTest.java @@ -0,0 +1,357 @@ +package org.broadinstitute.sting.gatk.downsampling; + +import net.sf.samtools.SAMFileHeader; +import net.sf.samtools.SAMRecord; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.testng.annotations.Test; +import org.testng.Assert; + +import java.util.*; + +// TODO: generalize these tests so that all possible arrangements of 1-4 stacks can be tested +public class PositionalDownsamplerUnitTest extends BaseTest { + + /** + * ------- + * ------- + * ------- + * ------- + * ------- + * ------- + */ + @Test + public void testThreeOverlappingIdenticalStacks() { + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + PositionalDownsampler downsampler = new PositionalDownsampler(1000); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 1, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 25, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 50, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.signalEndOfInput(); + Assert.assertTrue(downsampler.hasDownsampledItems()); + Assert.assertFalse(downsampler.hasPendingItems()); + + List downsampledStackSizes = getDownsampledStackSizesAndVerifySortedness(downsampler.consumeDownsampledItems()); + + System.out.println("testThreeOverlappingIdenticalStacks: Downsampled Stack sizes: " + downsampledStackSizes); + + Assert.assertEquals(downsampledStackSizes.size(), 3); + Assert.assertTrue(downsampledStackSizes.get(0) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(1) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(2) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(0) + downsampledStackSizes.get(1) + downsampledStackSizes.get(2) <= 1000); + } + + /** + * ------- + * ------- + * ------- + * ------- + * ------- + * ------- + */ + @Test + public void testThreeNonOverlappingIdenticalStacks() { + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + PositionalDownsampler downsampler = new PositionalDownsampler(1000); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 1, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 201, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 301, 100)); + Assert.assertTrue(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.signalEndOfInput(); + Assert.assertTrue(downsampler.hasDownsampledItems()); + Assert.assertFalse(downsampler.hasPendingItems()); + + List downsampledStackSizes = getDownsampledStackSizesAndVerifySortedness(downsampler.consumeDownsampledItems()); + + System.out.println("testThreeNonOverlappingIdenticalStacks: Downsampled Stack sizes: " + downsampledStackSizes); + + Assert.assertEquals(downsampledStackSizes.size(), 3); + Assert.assertTrue(downsampledStackSizes.get(0) == 1000); + Assert.assertTrue(downsampledStackSizes.get(1) == 1000); + Assert.assertTrue(downsampledStackSizes.get(2) == 1000); + } + + /** + * --- + * --- + * ------- + * ------- + * ------- + * ------- + */ + @Test + public void testThreeStacksWithShortStackAtBeginning() { + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + PositionalDownsampler downsampler = new PositionalDownsampler(1000); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 1, 25)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 20, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 50, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.signalEndOfInput(); + Assert.assertTrue(downsampler.hasDownsampledItems()); + Assert.assertFalse(downsampler.hasPendingItems()); + + List downsampledStackSizes = getDownsampledStackSizesAndVerifySortedness(downsampler.consumeDownsampledItems()); + + System.out.println("testThreeStacksWithShortStackAtBeginning: Downsampled Stack sizes: " + downsampledStackSizes); + + Assert.assertEquals(downsampledStackSizes.size(), 3); + Assert.assertTrue(downsampledStackSizes.get(0) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(1) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(2) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(0) + downsampledStackSizes.get(1) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(1) + downsampledStackSizes.get(2) <= 1000); + } + + /** + * ------- + * ------- + * --- + * --- + * ------- + * ------- + */ + @Test + public void testThreeStacksWithShortStackInMiddle() { + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + PositionalDownsampler downsampler = new PositionalDownsampler(1000); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 1, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 25, 25)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 75, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.signalEndOfInput(); + Assert.assertTrue(downsampler.hasDownsampledItems()); + Assert.assertFalse(downsampler.hasPendingItems()); + + List downsampledStackSizes = getDownsampledStackSizesAndVerifySortedness(downsampler.consumeDownsampledItems()); + + System.out.println("testThreeStacksWithShortStackInMiddle: Downsampled Stack sizes: " + downsampledStackSizes); + + Assert.assertEquals(downsampledStackSizes.size(), 3); + Assert.assertTrue(downsampledStackSizes.get(0) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(1) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(2) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(0) + downsampledStackSizes.get(1) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(0) + downsampledStackSizes.get(2) <= 1000); + } + + /** + * ------ + * ------ + * ------- + * ------- + * --- + * --- + */ + @Test + public void testThreeStacksWithShortStackAtEnd() { + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + PositionalDownsampler downsampler = new PositionalDownsampler(1000); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 1, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 50, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(1500, header, "foo", 0, 135, 25)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.signalEndOfInput(); + Assert.assertTrue(downsampler.hasDownsampledItems()); + Assert.assertFalse(downsampler.hasPendingItems()); + + List downsampledStackSizes = getDownsampledStackSizesAndVerifySortedness(downsampler.consumeDownsampledItems()); + + System.out.println("testThreeStacksWithShortStackAtEnd: Downsampled Stack sizes: " + downsampledStackSizes); + + Assert.assertEquals(downsampledStackSizes.size(), 3); + Assert.assertTrue(downsampledStackSizes.get(0) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(1) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(2) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(0) + downsampledStackSizes.get(1) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(1) + downsampledStackSizes.get(2) <= 1000); + } + + /** + * ------- + * ---- + * ------- + * ---- + * ------- + * ------- + */ + @Test + public void testThreePartiallyOverlappingStacks() { + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + PositionalDownsampler downsampler = new PositionalDownsampler(1000); + + downsampler.submit(createStackOfVaryingReads(2000, header, "foo", 0, 1, 100, 50)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfVaryingReads(2000, header, "foo", 0, 75, 100, 50)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(2000, header, "foo", 0, 150, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.signalEndOfInput(); + Assert.assertTrue(downsampler.hasDownsampledItems()); + Assert.assertFalse(downsampler.hasPendingItems()); + + List downsampledStackSizes = getDownsampledStackSizesAndVerifySortedness(downsampler.consumeDownsampledItems()); + + System.out.println("testThreePartiallyOverlappingStacks: Downsampled Stack sizes: " + downsampledStackSizes); + + Assert.assertEquals(downsampledStackSizes.size(), 3); + Assert.assertTrue(downsampledStackSizes.get(0) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(1) <= 1000); + Assert.assertTrue(downsampledStackSizes.get(2) <= 1000); + + // TODO: need to examine per-base coverage here + } + + @Test + public void testNoDownsamplingRequired() { + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + + PositionalDownsampler downsampler = new PositionalDownsampler(1000); + + downsampler.submit(createStackOfIdenticalReads(300, header, "foo", 0, 1, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(300, header, "foo", 0, 25, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.submit(createStackOfIdenticalReads(300, header, "foo", 0, 50, 100)); + Assert.assertFalse(downsampler.hasDownsampledItems()); + Assert.assertTrue(downsampler.hasPendingItems()); + + downsampler.signalEndOfInput(); + Assert.assertTrue(downsampler.hasDownsampledItems()); + Assert.assertFalse(downsampler.hasPendingItems()); + + List downsampledStackSizes = getDownsampledStackSizesAndVerifySortedness(downsampler.consumeDownsampledItems()); + + System.out.println("testNoDownsamplingRequired: Downsampled Stack sizes: " + downsampledStackSizes); + + Assert.assertEquals(downsampledStackSizes.size(), 3); + Assert.assertTrue(downsampledStackSizes.get(0) == 300); + Assert.assertTrue(downsampledStackSizes.get(1) == 300); + Assert.assertTrue(downsampledStackSizes.get(2) == 300); + } + + @Test + public void testGATKSAMRecordSupport() { + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + PositionalDownsampler downsampler = new PositionalDownsampler(1000); + + List reads = new ArrayList(); + for ( int i = 0; i < 10; i++ ) { + reads.add(ArtificialSAMUtils.createArtificialRead(header, "foo", 0, 10, 20 * i + 10)); + } + + downsampler.submit(reads); + downsampler.signalEndOfInput(); + List downsampledReads = downsampler.consumeDownsampledItems(); + + Assert.assertTrue(downsampledReads.size() == 10); + } + + private ArrayList createStackOfIdenticalReads( int stackSize, SAMFileHeader header, String name, int refIndex, int alignmentStart, int length ) { + ArrayList stack = new ArrayList(stackSize); + for ( int i = 1; i <= stackSize; i++ ) { + stack.add(ArtificialSAMUtils.createArtificialRead(header, name, refIndex, alignmentStart, length)); + } + return stack; + } + + private ArrayList createStackOfVaryingReads( int stackSize, SAMFileHeader header, String name, int refIndex, int alignmentStart, int firstLength, int secondLength ) { + ArrayList stack = createStackOfIdenticalReads(stackSize / 2, header, name, refIndex, alignmentStart, firstLength); + stack.addAll(createStackOfIdenticalReads(stackSize / 2, header, name, refIndex, alignmentStart, secondLength)); + return stack; + } + + private List getDownsampledStackSizesAndVerifySortedness( List downsampledReads ) { + List stackSizes = new ArrayList(); + Iterator iter = downsampledReads.iterator(); + Assert.assertTrue(iter.hasNext()); + + SAMRecord previousRead = iter.next(); + int currentStackSize = 1; + + while ( iter.hasNext() ) { + SAMRecord currentRead = iter.next(); + + if ( ! currentRead.getReferenceIndex().equals(previousRead.getReferenceIndex()) || currentRead.getAlignmentStart() > previousRead.getAlignmentStart() ) { + stackSizes.add(currentStackSize); + currentStackSize = 1; + } + else if ( currentRead.getAlignmentStart() < previousRead.getAlignmentStart() ) { + Assert.fail(String.format("Reads are out of order: %s %s", previousRead, currentRead)); + } + else { + currentStackSize++; + } + + previousRead = currentRead; + } + + stackSizes.add(currentStackSize); + return stackSizes; + } +} + diff --git a/public/java/test/org/broadinstitute/sting/gatk/filters/ReadGroupBlackListFilterUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/filters/ReadGroupBlackListFilterUnitTest.java index 166eb8a1d..5f2751030 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/filters/ReadGroupBlackListFilterUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/filters/ReadGroupBlackListFilterUnitTest.java @@ -4,7 +4,6 @@ import org.testng.Assert; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; -import org.broadinstitute.sting.utils.GenomeLocParser; import org.testng.annotations.BeforeClass; import org.testng.annotations.Test; @@ -188,7 +187,7 @@ public class ReadGroupBlackListFilterUnitTest extends BaseTest { } List filterList = new ArrayList(); - filterList.add(validationDataLocation + "readgroupblacklisttest.txt"); + filterList.add(privateTestDir + "readgroupblacklisttest.txt"); ReadGroupBlackListFilter filter = new ReadGroupBlackListFilter(filterList); int filtered = 0; @@ -227,7 +226,7 @@ public class ReadGroupBlackListFilterUnitTest extends BaseTest { } List filterList = new ArrayList(); - filterList.add(validationDataLocation + "readgroupblacklisttestlist.txt"); + filterList.add(privateTestDir + "readgroupblacklisttestlist.txt"); ReadGroupBlackListFilter filter = new ReadGroupBlackListFilter(filterList); int filtered = 0; diff --git a/public/java/test/org/broadinstitute/sting/gatk/iterators/LocusIteratorByStateUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/iterators/LocusIteratorByStateUnitTest.java index 50a4ce607..218548b00 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/iterators/LocusIteratorByStateUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/iterators/LocusIteratorByStateUnitTest.java @@ -17,8 +17,6 @@ import org.broadinstitute.sting.gatk.datasources.reads.SAMReaderID; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.baq.BAQ; -import org.broadinstitute.sting.utils.pileup.ReadBackedExtendedEventPileup; -import org.broadinstitute.sting.utils.classloader.JVMUtils; import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; import org.testng.annotations.BeforeClass; import org.testng.annotations.Test; @@ -74,9 +72,6 @@ public class LocusIteratorByStateUnitTest extends BaseTest { boolean foundIndel = false; while (li.hasNext()) { AlignmentContext context = li.next(); - if(!context.hasBasePileup()) - continue; - ReadBackedPileup pileup = context.getBasePileup().getBaseFilteredPileup(10); for (PileupElement p : pileup) { if (p.isBeforeInsertion()) { diff --git a/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManagerUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManagerUnitTest.java index e8799e2ab..48e4ff4ed 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManagerUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/refdata/tracks/FeatureManagerUnitTest.java @@ -52,11 +52,11 @@ import java.util.*; * UnitTests for RMD FeatureManager */ public class FeatureManagerUnitTest extends BaseTest { - private static final File RANDOM_FILE = new File(validationDataLocation + "exampleGATKReport.eval"); - private static final File VCF3_FILE = new File(validationDataLocation + "vcfexample3.vcf"); - private static final File VCF4_FILE = new File(testDir + "HiSeq.10000.vcf"); - private static final File VCF4_FILE_GZ = new File(testDir + "HiSeq.10000.vcf.gz"); - private static final File VCF4_FILE_BGZIP = new File(testDir + "HiSeq.10000.bgzip.vcf.gz"); + private static final File RANDOM_FILE = new File(publicTestDir+ "exampleGATKReport.eval"); + private static final File VCF3_FILE = new File(privateTestDir + "vcf3.vcf"); + private static final File VCF4_FILE = new File(privateTestDir + "HiSeq.10000.vcf"); + private static final File VCF4_FILE_GZ = new File(privateTestDir + "HiSeq.10000.vcf.gz"); + private static final File VCF4_FILE_BGZIP = new File(privateTestDir + "HiSeq.10000.bgzip.vcf.gz"); private FeatureManager manager; private GenomeLocParser genomeLocParser; diff --git a/public/java/test/org/broadinstitute/sting/gatk/refdata/utils/CheckableCloseableTribbleIterator.java b/public/java/test/org/broadinstitute/sting/gatk/refdata/utils/CheckableCloseableTribbleIterator.java new file mode 100644 index 000000000..952c67b46 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/refdata/utils/CheckableCloseableTribbleIterator.java @@ -0,0 +1,89 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.refdata.utils; + +import org.broad.tribble.CloseableTribbleIterator; +import org.broad.tribble.Feature; + +import java.util.ArrayList; +import java.util.Iterator; +import java.util.List; + +/** + * Adapter to allow checking if the wrapped iterator was closed. + * Creating an CCTI also adds it to the list returned from getThreadIterators(). + * @param feature + */ +public class CheckableCloseableTribbleIterator implements CloseableTribbleIterator { + private final CloseableTribbleIterator iterator; + private boolean closed = false; + + private static ThreadLocal>> threadIterators = + new ThreadLocal>>() { + @Override + protected List> initialValue() { + return new ArrayList>(); + } + }; + + public CheckableCloseableTribbleIterator(CloseableTribbleIterator iterator) { + this.iterator = iterator; + threadIterators.get().add(this); + } + + /** + * Returns the list of iterators created on this thread since the last time clearCreatedIterators() was called. + * @return the list of iterators created on this thread since the last time clearCreatedIterators() was called. + */ + public static List> getThreadIterators() { + return threadIterators.get(); + } + + /** + * Clears the tracked list of iterators created on this thread. + */ + public static void clearThreadIterators() { + threadIterators.get().clear(); + } + + @Override + public void close() { + iterator.close(); + this.closed = true; + } + + /** + * Returns true if this iterator was properly closed. + * @return true if this iterator was properly closed. + */ + public boolean isClosed() { + return closed; + } + + @Override public Iterator iterator() { return this; } + @Override public boolean hasNext() { return iterator.hasNext(); } + @Override public T next() { return iterator.next(); } + @Override public void remove() { iterator.remove(); } +} diff --git a/public/java/test/org/broadinstitute/sting/gatk/refdata/utils/FeatureToGATKFeatureIteratorUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/refdata/utils/FeatureToGATKFeatureIteratorUnitTest.java new file mode 100644 index 000000000..c00fbbcdb --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/refdata/utils/FeatureToGATKFeatureIteratorUnitTest.java @@ -0,0 +1,60 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.refdata.utils; + +import net.sf.picard.reference.IndexedFastaSequenceFile; +import org.broad.tribble.Feature; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; +import org.testng.Assert; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.IOException; + +public class FeatureToGATKFeatureIteratorUnitTest extends BaseTest { + @Test + @SuppressWarnings("unchecked") + public void testCloseFilePointers() throws IOException { + final String chr = "20"; + IndexedFastaSequenceFile seq = new CachingIndexedFastaSequenceFile(new File(BaseTest.hg19Reference)); + GenomeLocParser parser = new GenomeLocParser(seq); + File file = new File(privateTestDir + "NA12878.hg19.example1.vcf"); + VCFCodec codec = new VCFCodec(); + TestFeatureReader reader = new TestFeatureReader(file.getAbsolutePath(), codec); + CheckableCloseableTribbleIterator tribbleIterator = reader.query(chr, 1, 100000); + FeatureToGATKFeatureIterator gatkIterator = new FeatureToGATKFeatureIterator(parser, tribbleIterator, "test"); + Assert.assertTrue(gatkIterator.hasNext(), "GATK feature iterator does not have a next value."); + GenomeLoc gatkLocation = gatkIterator.next().getLocation(); + Assert.assertEquals(gatkLocation.getContig(), chr, "Instead of chr 20 rod iterator was at location " + gatkLocation); + Assert.assertFalse(tribbleIterator.isClosed(), "Tribble iterator is closed but should be still open."); + gatkIterator.close(); + Assert.assertTrue(tribbleIterator.isClosed(), "Tribble iterator is open but should be now closed."); + reader.close(); + } +} diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/ReadGroupCovariate.java b/public/java/test/org/broadinstitute/sting/gatk/refdata/utils/TestFeatureReader.java old mode 100755 new mode 100644 similarity index 53% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/ReadGroupCovariate.java rename to public/java/test/org/broadinstitute/sting/gatk/refdata/utils/TestFeatureReader.java index 33adf4417..a4eff3a66 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/recalibration/ReadGroupCovariate.java +++ b/public/java/test/org/broadinstitute/sting/gatk/refdata/utils/TestFeatureReader.java @@ -1,10 +1,5 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.utils.recalibration.BaseRecalibration; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; - /* - * Copyright (c) 2009 The Broad Institute + * Copyright (c) 2012, The Broad Institute * * Permission is hereby granted, free of charge, to any person * obtaining a copy of this software and associated documentation @@ -17,7 +12,6 @@ import org.broadinstitute.sting.utils.sam.GATKSAMRecord; * * The above copyright notice and this permission notice shall be * included in all copies or substantial portions of the Software. - * * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND @@ -28,34 +22,31 @@ import org.broadinstitute.sting.utils.sam.GATKSAMRecord; * OTHER DEALINGS IN THE SOFTWARE. */ +package org.broadinstitute.sting.gatk.refdata.utils; + +import org.broad.tribble.Feature; +import org.broad.tribble.FeatureCodec; +import org.broad.tribble.TribbleIndexedFeatureReader; + +import java.io.IOException; + /** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Oct 30, 2009 - * - * The Read Group covariate. + * Feature reader with additional test utilities. The iterators can be checked to see if they are closed. */ - -public class ReadGroupCovariate implements RequiredCovariate { - - // Initialize any member variables using the command-line arguments passed to the walkers - @Override - public void initialize(final RecalibrationArgumentCollection RAC) { +public class TestFeatureReader extends TribbleIndexedFeatureReader { + public TestFeatureReader(String featurePath, FeatureCodec codec) throws IOException { + super(featurePath, codec, true); } @Override - public void getValues(final GATKSAMRecord read, final Comparable[] comparable) { - final String readGroupId = read.getReadGroup().getReadGroupId(); - for (int i = 0; i < read.getReadLength(); i++) { - comparable[i] = readGroupId; - } + @SuppressWarnings("unchecked") + public CheckableCloseableTribbleIterator iterator() throws IOException { + return new CheckableCloseableTribbleIterator(super.iterator()); } - // Used to get the covariate's value from input csv file in TableRecalibrationWalker @Override - public final Comparable getValue(final String str) { - return str; + @SuppressWarnings("unchecked") + public CheckableCloseableTribbleIterator query(String chr, int start, int end) throws IOException { + return new CheckableCloseableTribbleIterator(super.query(chr, start, end)); } } - - diff --git a/public/java/test/org/broadinstitute/sting/gatk/refdata/utils/TestRMDTrackBuilder.java b/public/java/test/org/broadinstitute/sting/gatk/refdata/utils/TestRMDTrackBuilder.java new file mode 100644 index 000000000..4e6fe5939 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/refdata/utils/TestRMDTrackBuilder.java @@ -0,0 +1,69 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.refdata.utils; + +import net.sf.samtools.SAMSequenceDictionary; +import org.broad.tribble.FeatureCodec; +import org.broad.tribble.Tribble; +import org.broad.tribble.index.Index; +import org.broadinstitute.sting.gatk.refdata.tracks.FeatureManager; +import org.broadinstitute.sting.gatk.refdata.tracks.IndexDictionaryUtils; +import org.broadinstitute.sting.gatk.refdata.tracks.RMDTrack; +import org.broadinstitute.sting.gatk.refdata.tracks.RMDTrackBuilder; +import org.broadinstitute.sting.utils.GenomeLocParser; + +import java.io.File; +import java.io.IOException; + +/** + * Extension of RMDTrackBuilder that creates TestFeatureReader's which in turn create CheckableCloseableTribbleIterator's. + */ +public class TestRMDTrackBuilder extends RMDTrackBuilder { + private GenomeLocParser genomeLocParser; + + public TestRMDTrackBuilder(SAMSequenceDictionary dict, GenomeLocParser genomeLocParser) { + super(dict, genomeLocParser, null); + this.genomeLocParser = genomeLocParser; + } + + @Override + public RMDTrack createInstanceOfTrack(RMDTriplet fileDescriptor) { + String name = fileDescriptor.getName(); + File inputFile = new File(fileDescriptor.getFile()); + FeatureManager.FeatureDescriptor descriptor = getFeatureManager().getByTriplet(fileDescriptor); + FeatureCodec codec = getFeatureManager().createCodec(descriptor, name, genomeLocParser); + TestFeatureReader featureReader; + Index index; + try { + // Create a feature reader that creates checkable tribble iterators. + index = loadIndex(inputFile, codec); + featureReader = new TestFeatureReader(inputFile.getAbsolutePath(), codec); + } catch (IOException e) { + throw new RuntimeException(e); + } + SAMSequenceDictionary sequenceDictionary = IndexDictionaryUtils.getSequenceDictionaryFromProperties(index); + return new RMDTrack(descriptor.getCodecClass(), name, inputFile, featureReader, sequenceDictionary, genomeLocParser, codec); + } +} diff --git a/public/java/test/org/broadinstitute/sting/gatk/report/GATKReportUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/report/GATKReportUnitTest.java index 5759204cf..20071acca 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/report/GATKReportUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/report/GATKReportUnitTest.java @@ -36,20 +36,18 @@ import java.io.PrintStream; public class GATKReportUnitTest extends BaseTest { @Test public void testParse() throws Exception { - String reportPath = validationDataLocation + "exampleGATKReportv1.tbl"; + String reportPath = publicTestDir + "exampleGATKReportv2.tbl"; GATKReport report = new GATKReport(reportPath); - Assert.assertEquals(report.getVersion(), GATKReportVersion.V1_0); + Assert.assertEquals(report.getVersion(), GATKReportVersion.V1_1); Assert.assertEquals(report.getTables().size(), 5); GATKReportTable countVariants = report.getTable("CountVariants"); - Object countVariantsPK = countVariants.getPrimaryKeyByData("CountVariants", "dbsnp", "eval", "none", "all"); - Assert.assertEquals(countVariants.get(countVariantsPK, "nProcessedLoci"), "63025520"); - Assert.assertEquals(countVariants.get(countVariantsPK, "nNoCalls"), "0"); - Assert.assertEquals(countVariants.get(countVariantsPK, "heterozygosity"), 4.73e-06); + Assert.assertEquals(countVariants.get(0, "nProcessedLoci"), "63025520"); + Assert.assertEquals(countVariants.get(0, "nNoCalls"), "0"); + Assert.assertEquals(countVariants.get(0, "heterozygosity"), 4.73e-06); GATKReportTable validationReport = report.getTable("ValidationReport"); - Object validationReportPK = countVariants.getPrimaryKeyByData("CountVariants", "dbsnp", "eval", "none", "novel"); - Assert.assertEquals(validationReport.get(validationReportPK, "PPV"), Double.NaN); + Assert.assertEquals(validationReport.get(2, "PPV"), Double.NaN); } @DataProvider(name = "rightAlignValues") @@ -90,36 +88,8 @@ public class GATKReportUnitTest extends BaseTest { @Test public void testDottedSampleName() { GATKReportTable table = makeBasicTable(); - Object pk; - - pk = table.getPrimaryKeyByData("foo.1"); - Assert.assertEquals(table.get(pk, "value"), "hello"); - - pk = table.getPrimaryKeyByData("foo.2"); - Assert.assertEquals(table.get(pk, "value"), "world"); - } - - @Test - public void testFindPrimaryKeyByData() { - GATKReportTable table = makeBasicTable(); - Assert.assertNotNull(table.findPrimaryKeyByData("foo.1")); - Assert.assertNotNull(table.findPrimaryKeyByData("foo.1", "hello")); - Assert.assertNotNull(table.findPrimaryKeyByData("foo.2")); - Assert.assertNotNull(table.findPrimaryKeyByData("foo.2", "world")); - Assert.assertNull(table.findPrimaryKeyByData("list", "longer", "than", "column", "count")); - Assert.assertNull(table.findPrimaryKeyByData("short")); - } - - @Test(expectedExceptions = IllegalArgumentException.class) - public void testEmptyFindPrimaryKeyByData() { - GATKReportTable table = makeBasicTable(); - table.findPrimaryKeyByData(); - } - - @Test(expectedExceptions = NullPointerException.class) - public void testNullFindPrimaryKeyByData() { - GATKReportTable table = makeBasicTable(); - table.findPrimaryKeyByData((Object[]) null); + Assert.assertEquals(table.get(0, "value"), "hello"); + Assert.assertEquals(table.get(1, "value"), "world"); } @Test @@ -128,7 +98,7 @@ public class GATKReportUnitTest extends BaseTest { GATKReport report = GATKReport.newSimpleReport("TableName", "Roger", "is", "Awesome"); // Add data to simple GATK report - report.addRow( 12, 23.45, true); + report.addRow(12, 23.45, true); report.addRow("ans", '3', 24.5); report.addRow("hi", "", 2.3); @@ -154,42 +124,40 @@ public class GATKReportUnitTest extends BaseTest { @Test public void testGATKReportGatherer() { - boolean displayPK = false; GATKReport report1, report2, report3; report1 = new GATKReport(); - report1.addTable("TableName", "Description"); - report1.getTable("TableName").addPrimaryKey("id", displayPK); - report1.getTable("TableName").addColumn("colA", GATKReportDataType.String.getDefaultValue(), "%s"); - report1.getTable("TableName").addColumn("colB", GATKReportDataType.Character.getDefaultValue(), "%c"); - report1.getTable("TableName").set(1, "colA", "NotNum"); - report1.getTable("TableName").set(1, "colB", (char) 64); + report1.addTable("TableName", "Description", 2); + report1.getTable("TableName").addColumn("colA", "%s"); + report1.getTable("TableName").addColumn("colB", "%c"); + report1.getTable("TableName").set(0, "colA", "NotNum"); + report1.getTable("TableName").set(0, "colB", (char) 64); report2 = new GATKReport(); - report2.addTable("TableName", "Description"); - report2.getTable("TableName").addPrimaryKey("id", displayPK); - report2.getTable("TableName").addColumn("colA", GATKReportDataType.String.getDefaultValue(), "%s"); - report2.getTable("TableName").addColumn("colB", GATKReportDataType.Character.getDefaultValue(), "%c"); - report2.getTable("TableName").set(2, "colA", "df3"); - report2.getTable("TableName").set(2, "colB", 'A'); + report2.addTable("TableName", "Description", 2); + report2.getTable("TableName").addColumn("colA", "%s"); + report2.getTable("TableName").addColumn("colB", "%c"); + report2.getTable("TableName").set(0, "colA", "df3"); + report2.getTable("TableName").set(0, "colB", 'A'); report3 = new GATKReport(); - report3.addTable("TableName", "Description"); - report3.getTable("TableName").addPrimaryKey("id", displayPK); - report3.getTable("TableName").addColumn("colA", GATKReportDataType.String.getDefaultValue(), "%s"); - report3.getTable("TableName").addColumn("colB", GATKReportDataType.Character.getDefaultValue(), "%c"); - report3.getTable("TableName").set(3, "colA", "df5f"); - report3.getTable("TableName").set(3, "colB", 'c'); + report3.addTable("TableName", "Description", 2); + report3.getTable("TableName").addColumn("colA", "%s"); + report3.getTable("TableName").addColumn("colB", "%c"); + report3.getTable("TableName").set(0, "colA", "df5f"); + report3.getTable("TableName").set(0, "colB", 'c'); - report1.combineWith(report2); - report1.combineWith(report3); + report1.concat(report2); + report1.concat(report3); - report1.addTable("Table2", "To contain some more data types"); + report1.addTable("Table2", "To contain some more data types", 3); GATKReportTable table = report1.getTable("Table2"); - table.addPrimaryKey("KEY"); - table.addColumn("SomeInt", GATKReportDataType.Integer.getDefaultValue(), true, "%d"); - table.addColumn("SomeFloat", GATKReportDataType.Decimal.getDefaultValue(), true, "%.16E"); - table.addColumn("TrueFalse", false, true, "%B"); + table.addColumn("SomeInt", "%d"); + table.addColumn("SomeFloat", "%.16E"); + table.addColumn("TrueFalse", "%B"); + table.addRowIDMapping("12df", 0); + table.addRowIDMapping("5f", 1); + table.addRowIDMapping("RZ", 2); table.set("12df", "SomeInt", Byte.MAX_VALUE); table.set("12df", "SomeFloat", 34.0); table.set("12df", "TrueFalse", true); @@ -200,17 +168,17 @@ public class GATKReportUnitTest extends BaseTest { table.set("RZ", "SomeFloat", 535646345.657453464576); table.set("RZ", "TrueFalse", true); - report1.addTable("Table3", "blah"); - report1.getTable("Table3").addPrimaryKey("HAI"); - report1.getTable("Table3").addColumn("a", true, GATKReportDataType.String.getDefaultFormatString()); + report1.addTable("Table3", "blah", 1, true); + report1.getTable("Table3").addColumn("a"); + report1.getTable("Table3").addRowIDMapping("q", 2); + report1.getTable("Table3").addRowIDMapping("5", 3); + report1.getTable("Table3").addRowIDMapping("573s", 0); + report1.getTable("Table3").addRowIDMapping("ZZZ", 1); report1.getTable("Table3").set("q", "a", "34"); report1.getTable("Table3").set("5", "a", "c4g34"); report1.getTable("Table3").set("573s", "a", "fDlwueg"); report1.getTable("Table3").set("ZZZ", "a", "Dfs"); - //report1.print(System.out); - - try { File file = createTempFile("GATKReportGatherer-UnitTest", ".tbl"); //System.out.format("The temporary file" + " has been created: %s%n", file); @@ -226,8 +194,5 @@ public class GATKReportUnitTest extends BaseTest { } catch (IOException x) { System.err.format("IOException: %s%n", x); } - - //Assert.assertEquals(1,1); - } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/samples/SampleDBUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/samples/SampleDBUnitTest.java index 85aa28a98..3ee4e31d9 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/samples/SampleDBUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/samples/SampleDBUnitTest.java @@ -20,7 +20,7 @@ import java.util.*; public class SampleDBUnitTest extends BaseTest { private static SampleDBBuilder builder; // all the test sample files are located here - private File testPED = new File(testDir + "ceutrio.ped"); + private File testPED = new File(privateTestDir + "ceutrio.ped"); private static final Set testPEDSamples = new HashSet(Arrays.asList( new Sample("kid", "fam1", "dad", "mom", Gender.MALE, Affection.AFFECTED), diff --git a/public/java/test/org/broadinstitute/sting/gatk/traversals/TraverseReadsUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/traversals/TraverseReadsUnitTest.java index 9226f97e2..7845515d8 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/traversals/TraverseReadsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/traversals/TraverseReadsUnitTest.java @@ -1,25 +1,22 @@ package org.broadinstitute.sting.gatk.traversals; -import net.sf.picard.reference.ReferenceSequenceFile; import net.sf.picard.reference.IndexedFastaSequenceFile; +import net.sf.picard.reference.ReferenceSequenceFile; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.commandline.Tags; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; -import org.broadinstitute.sting.gatk.datasources.providers.ShardDataProvider; import org.broadinstitute.sting.gatk.datasources.providers.ReadShardDataProvider; +import org.broadinstitute.sting.gatk.datasources.providers.ShardDataProvider; import org.broadinstitute.sting.gatk.datasources.reads.ReadShardBalancer; import org.broadinstitute.sting.gatk.datasources.reads.SAMDataSource; -import org.broadinstitute.sting.gatk.datasources.reads.Shard; import org.broadinstitute.sting.gatk.datasources.reads.SAMReaderID; +import org.broadinstitute.sting.gatk.datasources.reads.Shard; import org.broadinstitute.sting.gatk.resourcemanagement.ThreadAllocation; -import org.broadinstitute.sting.gatk.walkers.qc.CountReadsWalker; import org.broadinstitute.sting.gatk.walkers.Walker; +import org.broadinstitute.sting.gatk.walkers.qc.CountReads; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; - -import static org.testng.Assert.fail; - import org.testng.annotations.BeforeClass; import org.testng.annotations.BeforeMethod; import org.testng.annotations.Test; @@ -31,6 +28,8 @@ import java.io.PrintStream; import java.util.ArrayList; import java.util.List; +import static org.testng.Assert.fail; + /** * * User: aaron @@ -106,7 +105,7 @@ public class TraverseReadsUnitTest extends BaseTest { bamList = new ArrayList(); bamList.add(bam); - countReadWalker = new CountReadsWalker(); + countReadWalker = new CountReads(); traversalEngine = new TraverseReads(); traversalEngine.initialize(engine); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/CNV/SymbolicAllelesIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/CNV/SymbolicAllelesIntegrationTest.java index 1b2a6e82e..2af88b109 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/CNV/SymbolicAllelesIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/CNV/SymbolicAllelesIntegrationTest.java @@ -10,30 +10,29 @@ public class SymbolicAllelesIntegrationTest extends WalkerTest { public static String baseTestString(String reference, String VCF) { return "-T CombineVariants" + " -R " + reference + - " --variant:vcf " + validationDataLocation + VCF + + " --variant:vcf " + privateTestDir + VCF + " -filteredRecordsMergeType KEEP_IF_ANY_UNFILTERED" + " -genotypeMergeOptions REQUIRE_UNIQUE" + " -setKey null" + " -o %s" + - " -NO_HEADER"; + " --no_cmdline_in_header"; } - - @Test + @Test(enabled = true) public void test1() { WalkerTestSpec spec = new WalkerTestSpec( baseTestString(b36KGReference, "symbolic_alleles_1.vcf"), 1, - Arrays.asList("89a1c56f264ac27a2a4be81072473b6f")); + Arrays.asList("5bafc5a99ea839e686e55de93f91fd5c")); executeTest("Test symbolic alleles", spec); } - @Test + @Test(enabled = true) public void test2() { WalkerTestSpec spec = new WalkerTestSpec( baseTestString(b36KGReference, "symbolic_alleles_2.vcf"), 1, - Arrays.asList("3008d6f5044bc14801e5c58d985dec72")); + Arrays.asList("bf5a09f783ab1fa44774c81f91d10921")); executeTest("Test symbolic alleles mixed in with non-symbolic alleles", spec); } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/ClipReadsWalkersIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/ClipReadsWalkersIntegrationTest.java index 216026a52..ade9bda16 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/ClipReadsWalkersIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/ClipReadsWalkersIntegrationTest.java @@ -36,7 +36,7 @@ public class ClipReadsWalkersIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( "-R " + hg18Reference + " -T ClipReads " + - "-I " + validationDataLocation + "clippingReadsTest.withRG.bam " + + "-I " + privateTestDir + "clippingReadsTest.withRG.bam " + "-os %s " + "-o %s " + args, 2, // just one output file @@ -55,9 +55,9 @@ public class ClipReadsWalkersIntegrationTest extends WalkerTest { @Test public void testClipRange2() { testClipper("clipRange2", "-CT 1-5,11-15", "be4fcad5b666a5540028b774169cbad7", "3061cf742f9e5526a61130128ae761a3"); } @Test public void testClipSeq() { testClipper("clipSeqX", "-X CCCCC", "db199bd06561c9f2122f6ffb07941fbc", "b89459f373e40f0b835c1faff2208839"); } - @Test public void testClipSeqFile() { testClipper("clipSeqXF", "-XF " + validationDataLocation + "seqsToClip.fasta", "d011a3152b31822475afbe0281491f8d", "24e19116ef16a37a6d095ed5c22c2466"); } + @Test public void testClipSeqFile() { testClipper("clipSeqXF", "-XF " + privateTestDir + "seqsToClip.fasta", "d011a3152b31822475afbe0281491f8d", "24e19116ef16a37a6d095ed5c22c2466"); } - @Test public void testClipMulti() { testClipper("clipSeqMulti", "-QT 10 -CT 1-5 -XF " + validationDataLocation + "seqsToClip.fasta -X CCCCC", "a23187bd9bfb06557f799706d98441de", "ad8d30300cb43d5e300fcc4d2450da8e"); } + @Test public void testClipMulti() { testClipper("clipSeqMulti", "-QT 10 -CT 1-5 -XF " + privateTestDir + "seqsToClip.fasta -X CCCCC", "a23187bd9bfb06557f799706d98441de", "ad8d30300cb43d5e300fcc4d2450da8e"); } @Test public void testClipNs() { testClipper("testClipNs", "-QT 10 -CR WRITE_NS", Q10ClipOutput, "57c05b6241db7110148a91fde2d431d0"); } @Test public void testClipQ0s() { testClipper("testClipQs", "-QT 10 -CR WRITE_Q0S", Q10ClipOutput, "2a1a3153e0942ab355fd8a6e082b30e0"); } @@ -68,7 +68,7 @@ public class ClipReadsWalkersIntegrationTest extends WalkerTest { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( "-R " + hg18Reference + " -T ClipReads" + - " -I " + validationDataLocation + "originalQuals.chr1.1-1K.bam" + + " -I " + privateTestDir + "originalQuals.chr1.1-1K.bam" + " -L chr1:1-1,000" + " -OQ -QT 4 -CR WRITE_Q0S" + " -o %s -os %s", diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/PrintReadsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/PrintReadsIntegrationTest.java index 4b4946835..057cf1cf9 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/PrintReadsIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/PrintReadsIntegrationTest.java @@ -47,7 +47,7 @@ public class PrintReadsIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( "-T PrintReads" + " -R " + params.reference + - " -I " + validationDataLocation + params.bam + + " -I " + privateTestDir + params.bam + params.args + " -o %s", Arrays.asList(params.md5)); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/PrintReadsUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/PrintReadsUnitTest.java index 0fcaad3bf..1aaa00aee 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/PrintReadsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/PrintReadsUnitTest.java @@ -59,7 +59,7 @@ public class PrintReadsUnitTest extends BaseTest { private ReferenceContext bases = null; //private ReferenceContext ref = new ReferenceContext() - PrintReadsWalker walker; + PrintReads walker; ArtificialSAMFileWriter writer; @BeforeMethod @@ -67,7 +67,7 @@ public class PrintReadsUnitTest extends BaseTest { trav = new ArtificialReadsTraversal(); readTotal = ( ( trav.endingChr - trav.startingChr ) + 1 ) * trav.readsPerChr + trav.unMappedReads; - walker = new PrintReadsWalker(); + walker = new PrintReads(); writer = new ArtificialSAMFileWriter(); walker.out = writer; walker.initialize(); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorIntegrationTest.java index 2f0ef1a0e..17d27c156 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorIntegrationTest.java @@ -9,46 +9,46 @@ import java.util.Arrays; public class VariantAnnotatorIntegrationTest extends WalkerTest { public static String baseTestString() { - return "-T VariantAnnotator -R " + b36KGReference + " -NO_HEADER -o %s"; + return "-T VariantAnnotator -R " + b36KGReference + " --no_cmdline_in_header -o %s"; } @Test public void testHasAnnotsNotAsking1() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, - Arrays.asList("8a105fa5eebdfffe7326bc5b3d8ffd1c")); + baseTestString() + " --variant " + privateTestDir + "vcfexample2.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, + Arrays.asList("360610e4990860bb5c45249b8ac31e5b")); executeTest("test file has annotations, not asking for annotations, #1", spec); } @Test public void testHasAnnotsNotAsking2() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --variant:VCF3 " + validationDataLocation + "vcfexample3.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1, - Arrays.asList("964f1016ec9a3c55333f62dd834c14d6")); + baseTestString() + " --variant " + privateTestDir + "vcfexample3.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1, + Arrays.asList("d69a3c92a0e8f44e09e7377e3eaed4e8")); executeTest("test file has annotations, not asking for annotations, #2", spec); } @Test public void testHasAnnotsAsking1() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " -G Standard --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, - Arrays.asList("3b7796fa7c7dc94878bedadf7938db4c")); + baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample2.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, + Arrays.asList("95b0627bfcac2191aed9908904e892ff")); executeTest("test file has annotations, asking for annotations, #1", spec); } @Test public void testHasAnnotsAsking2() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " -G Standard --variant:VCF3 " + validationDataLocation + "vcfexample3.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1, - Arrays.asList("2977bb30c8b84a5f4094fe6090658561")); + baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample3.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1, + Arrays.asList("0e2509349fd6c8a9e9408c918215e1de")); executeTest("test file has annotations, asking for annotations, #2", spec); } @Test public void testNoAnnotsNotAsking1() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --variant:VCF3 " + validationDataLocation + "vcfexample2empty.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, - Arrays.asList("42ccee09fa9f8c58f4a0d4f1139c094f")); + baseTestString() + " --variant " + privateTestDir + "vcfexample2empty.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, + Arrays.asList("540a9be8a8cb85b0f675fea1184bf78c")); executeTest("test file doesn't have annotations, not asking for annotations, #1", spec); } @@ -57,105 +57,105 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest { // the genotype annotations in this file are actually out of order. If you don't parse the genotypes // they don't get reordered. It's a good test of the genotype ordering system. WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --variant:VCF3 " + validationDataLocation + "vcfexample3empty.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1, - Arrays.asList("f2ddfa8105c290b1f34b7a261a02a1ac")); + baseTestString() + " --variant " + privateTestDir + "vcfexample3empty.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1, + Arrays.asList("f900e65b65ff0f9d9eb0891ef9b28c73")); executeTest("test file doesn't have annotations, not asking for annotations, #2", spec); } @Test public void testNoAnnotsAsking1() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " -G Standard --variant:VCF3 " + validationDataLocation + "vcfexample2empty.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, - Arrays.asList("279cace364f747f9bae7fe391b5026f0")); + baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample2empty.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, + Arrays.asList("32d81a7797605afb526983a2ab45efc2")); executeTest("test file doesn't have annotations, asking for annotations, #1", spec); } @Test public void testNoAnnotsAsking2() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " -G Standard --variant:VCF3 " + validationDataLocation + "vcfexample3empty.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1, - Arrays.asList("0948cd1dba7d61f283cc4cf2a7757d92")); + baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample3empty.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1, + Arrays.asList("350539ccecea0d1f7fffd4ac29c015e7")); executeTest("test file doesn't have annotations, asking for annotations, #2", spec); } @Test public void testExcludeAnnotations() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " -G Standard -XA FisherStrand -XA ReadPosRankSumTest --variant:VCF3 " + validationDataLocation + "vcfexample2empty.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, - Arrays.asList("e488abd05d6162758698a3a7579866a6")); + baseTestString() + " -G Standard -XA FisherStrand -XA ReadPosRankSumTest --variant " + privateTestDir + "vcfexample2empty.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, + Arrays.asList("f33f417fad98c05d9cd08ffa22943b0f")); executeTest("test exclude annotations", spec); } @Test public void testOverwritingHeader() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " -G Standard --variant " + validationDataLocation + "vcfexample4.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,001,292", 1, - Arrays.asList("062155edec46a8c52243475fbf3a2943")); + baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample4.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,001,292", 1, + Arrays.asList("c222361819fae035a0162f876990fdee")); executeTest("test overwriting header", spec); } @Test public void testNoReads() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " -G Standard --variant " + validationDataLocation + "vcfexample3empty.vcf -L " + validationDataLocation + "vcfexample3empty.vcf", 1, - Arrays.asList("06635f2dd91b539bfbce9bf7914d8e43")); + baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample3empty.vcf -L " + privateTestDir + "vcfexample3empty.vcf", 1, + Arrays.asList("1c423b7730b9805e7b885ece924286e0")); executeTest("not passing it any reads", spec); } @Test public void testDBTagWithDbsnp() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --dbsnp " + b36dbSNP129 + " -G Standard --variant " + validationDataLocation + "vcfexample3empty.vcf -L " + validationDataLocation + "vcfexample3empty.vcf", 1, - Arrays.asList("820eeba1f6e3a0758a69d937c524a38e")); + baseTestString() + " --dbsnp " + b36dbSNP129 + " -G Standard --variant " + privateTestDir + "vcfexample3empty.vcf -L " + privateTestDir + "vcfexample3empty.vcf", 1, + Arrays.asList("54d7d5bb9404652857adf5e50d995f30")); executeTest("getting DB tag with dbSNP", spec); } @Test public void testMultipleIdsWithDbsnp() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --alwaysAppendDbsnpId --dbsnp " + b36dbSNP129 + " -G Standard --variant " + validationDataLocation + "vcfexample3withIDs.vcf -L " + validationDataLocation + "vcfexample3withIDs.vcf", 1, - Arrays.asList("cd7e3d43b8f5579c461b3e588a295fa8")); + baseTestString() + " --alwaysAppendDbsnpId --dbsnp " + b36dbSNP129 + " -G Standard --variant " + privateTestDir + "vcfexample3withIDs.vcf -L " + privateTestDir + "vcfexample3withIDs.vcf", 1, + Arrays.asList("5fe63e511061ed4f91d938e72e7e3c39")); executeTest("adding multiple IDs with dbSNP", spec); } @Test public void testDBTagWithHapMap() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --comp:H3 " + validationDataLocation + "fakeHM3.vcf -G Standard --variant " + validationDataLocation + "vcfexample3empty.vcf -L " + validationDataLocation + "vcfexample3empty.vcf", 1, - Arrays.asList("31cc2ce157dd20771418c08d6b3be1fa")); + baseTestString() + " --comp:H3 " + privateTestDir + "fakeHM3.vcf -G Standard --variant " + privateTestDir + "vcfexample3empty.vcf -L " + privateTestDir + "vcfexample3empty.vcf", 1, + Arrays.asList("cc7184263975595a6e2473d153227146")); executeTest("getting DB tag with HM3", spec); } @Test public void testNoQuals() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --variant " + validationDataLocation + "noQual.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L " + validationDataLocation + "noQual.vcf -A QualByDepth", 1, - Arrays.asList("e531c9f90c17f0f859cd1ac851a8edd8")); + baseTestString() + " --variant " + privateTestDir + "noQual.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L " + privateTestDir + "noQual.vcf -A QualByDepth", 1, + Arrays.asList("aea983adc01cd059193538cc30adc17d")); executeTest("test file doesn't have QUALs", spec); } @Test public void testUsingExpression() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --resource:foo " + validationDataLocation + "targetAnnotations.vcf -G Standard --variant:VCF3 " + validationDataLocation + "vcfexample3empty.vcf -E foo.AF -L " + validationDataLocation + "vcfexample3empty.vcf", 1, - Arrays.asList("074865f8f8c0ca7bfd58681f396c49e9")); + baseTestString() + " --resource:foo " + privateTestDir + "targetAnnotations.vcf -G Standard --variant " + privateTestDir + "vcfexample3empty.vcf -E foo.AF -L " + privateTestDir + "vcfexample3empty.vcf", 1, + Arrays.asList("2b0e8cdfd691779befc5ac123d1a1887")); executeTest("using expression", spec); } @Test public void testUsingExpressionWithID() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --resource:foo " + validationDataLocation + "targetAnnotations.vcf -G Standard --variant:VCF3 " + validationDataLocation + "vcfexample3empty.vcf -E foo.ID -L " + validationDataLocation + "vcfexample3empty.vcf", 1, - Arrays.asList("97b26db8135d083566fb585a677fbe8a")); + baseTestString() + " --resource:foo " + privateTestDir + "targetAnnotations.vcf -G Standard --variant " + privateTestDir + "vcfexample3empty.vcf -E foo.ID -L " + privateTestDir + "vcfexample3empty.vcf", 1, + Arrays.asList("3de1d1998203518098ffae233f3e2352")); executeTest("using expression with ID", spec); } @Test public void testTabixAnnotations() { - final String MD5 = "13269d5a2e16f06fd755cc0fb9271acf"; + final String MD5 = "99938d1e197b8f10c408cac490a00a62"; for ( String file : Arrays.asList("CEU.exon.2010_03.sites.vcf", "CEU.exon.2010_03.sites.vcf.gz")) { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " -A HomopolymerRun --variant:vcf " + validationDataLocation + file + " -L " + validationDataLocation + "CEU.exon.2010_03.sites.vcf -NO_HEADER", 1, + baseTestString() + " -A HomopolymerRun --variant:vcf " + validationDataLocation + file + " -L " + validationDataLocation + "CEU.exon.2010_03.sites.vcf --no_cmdline_in_header", 1, Arrays.asList(MD5)); executeTest("Testing lookup vcf tabix vs. vcf tribble", spec); } @@ -164,11 +164,11 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest { @Test public void testSnpEffAnnotations() { WalkerTestSpec spec = new WalkerTestSpec( - "-T VariantAnnotator -R " + hg19Reference + " -NO_HEADER -o %s -A SnpEff --variant " + + "-T VariantAnnotator -R " + hg19Reference + " --no_cmdline_in_header -o %s -A SnpEff --variant " + validationDataLocation + "1kg_exomes_unfiltered.AFR.unfiltered.vcf --snpEffFile " + validationDataLocation + "snpEff2.0.5.AFR.unfiltered.vcf -L 1:1-1,500,000 -L 2:232,325,429", 1, - Arrays.asList("ffbda45b3682c9b83cb541d83f6c15d6") + Arrays.asList("d9291845ce5a8576898d293a829a05b7") ); executeTest("Testing SnpEff annotations", spec); } @@ -176,7 +176,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest { @Test public void testSnpEffAnnotationsUnsupportedVersion() { WalkerTestSpec spec = new WalkerTestSpec( - "-T VariantAnnotator -R " + hg19Reference + " -NO_HEADER -o %s -A SnpEff --variant " + + "-T VariantAnnotator -R " + hg19Reference + " --no_cmdline_in_header -o %s -A SnpEff --variant " + validationDataLocation + "1kg_exomes_unfiltered.AFR.unfiltered.vcf --snpEffFile " + validationDataLocation + "snpEff.AFR.unfiltered.unsupported.version.vcf -L 1:1-1,500,000", 1, @@ -187,10 +187,10 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest { @Test public void testTDTAnnotation() { - final String MD5 = "a78c1e950740d3c13c0258960c5fa8e1"; + final String MD5 = "427dfdc665359b67eff210f909ebf8a2"; WalkerTestSpec spec = new WalkerTestSpec( - "-T VariantAnnotator -R " + b37KGReference + " -A TransmissionDisequilibriumTest --variant:vcf " + validationDataLocation + "ug.random50000.subset300bp.chr1.family.vcf" + - " -L " + validationDataLocation + "ug.random50000.subset300bp.chr1.family.vcf -NO_HEADER -ped " + validationDataLocation + "ug.random50000.family.ped -o %s", 1, + "-T VariantAnnotator -R " + b37KGReference + " -A TransmissionDisequilibriumTest --variant:vcf " + privateTestDir + "ug.random50000.subset300bp.chr1.family.vcf" + + " -L " + privateTestDir + "ug.random50000.subset300bp.chr1.family.vcf --no_cmdline_in_header -ped " + privateTestDir + "ug.random50000.family.ped -o %s", 1, Arrays.asList(MD5)); executeTest("Testing TDT annotation ", spec); } @@ -198,20 +198,20 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest { @Test public void testChromosomeCountsPed() { - final String MD5 = "32df3ceb63c277df442ed55fb8684933"; + final String MD5 = "6b5cbedf4a8b3385edf128d81c8a46f2"; WalkerTestSpec spec = new WalkerTestSpec( - "-T VariantAnnotator -R " + b37KGReference + " -A ChromosomeCounts --variant:vcf " + validationDataLocation + "ug.random50000.subset300bp.chr1.family.vcf" + - " -L " + validationDataLocation + "ug.random50000.subset300bp.chr1.family.vcf -NO_HEADER -ped " + validationDataLocation + "ug.random50000.family.ped -o %s", 1, + "-T VariantAnnotator -R " + b37KGReference + " -A ChromosomeCounts --variant:vcf " + privateTestDir + "ug.random50000.subset300bp.chr1.family.vcf" + + " -L " + privateTestDir + "ug.random50000.subset300bp.chr1.family.vcf --no_cmdline_in_header -ped " + privateTestDir + "ug.random50000.family.ped -o %s", 1, Arrays.asList(MD5)); executeTest("Testing ChromosomeCounts annotation with PED file", spec); } @Test public void testInbreedingCoeffPed() { - final String MD5 = "7f1314fada5cb1f35ba1996f8a7a686b"; + final String MD5 = "159a771c1deaeffb786097e106943893"; WalkerTestSpec spec = new WalkerTestSpec( - "-T VariantAnnotator -R " + b37KGReference + " -A InbreedingCoeff --variant:vcf " + validationDataLocation + "ug.random50000.subset300bp.chr1.family.vcf" + - " -L " + validationDataLocation + "ug.random50000.subset300bp.chr1.family.vcf -NO_HEADER -ped " + validationDataLocation + "ug.random50000.family.ped -o %s", 1, + "-T VariantAnnotator -R " + b37KGReference + " -A InbreedingCoeff --variant:vcf " + privateTestDir + "ug.random50000.subset300bp.chr1.family.vcf" + + " -L " + privateTestDir + "ug.random50000.subset300bp.chr1.family.vcf --no_cmdline_in_header -ped " + privateTestDir + "ug.random50000.family.ped -o %s", 1, Arrays.asList(MD5)); executeTest("Testing InbreedingCoeff annotation with PED file", spec); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/beagle/BeagleIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/beagle/BeagleIntegrationTest.java index 9aae1f0ae..869011a99 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/beagle/BeagleIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/beagle/BeagleIntegrationTest.java @@ -32,7 +32,7 @@ import java.util.Arrays; public class BeagleIntegrationTest extends WalkerTest { - private static final String beagleValidationDataLocation = validationDataLocation + "/Beagle/"; + private static final String beagleValidationDataLocation = privateTestDir + "/Beagle/"; @Test public void testBeagleOutput() { WalkerTestSpec spec = new WalkerTestSpec( @@ -41,7 +41,8 @@ public class BeagleIntegrationTest extends WalkerTest { "--beagleR2:BEAGLE " + beagleValidationDataLocation + "inttestbgl.r2 " + "--beagleProbs:BEAGLE " + beagleValidationDataLocation + "inttestbgl.gprobs " + "--beaglePhased:BEAGLE " + beagleValidationDataLocation + "inttestbgl.phased " + - "-o %s -NO_HEADER", 1, Arrays.asList("6d0f213918e3b9ea33bc2f8a51a462f1")); + "-o %s --no_cmdline_in_header -U LENIENT_VCF_PROCESSING", 1, Arrays.asList("c5522304abf0633041c7772dd7dafcea")); + spec.disableShadowBCF(); executeTest("test BeagleOutputToVCF", spec); } @@ -50,7 +51,8 @@ public class BeagleIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( "-T ProduceBeagleInput -R " + hg19Reference + " " + "--variant:VCF3 " + beagleValidationDataLocation + "inttestbgl.input.vcf " + - "-o %s", 1, Arrays.asList("a01c704246f3dd1b9c65774007e51e69")); + "-o %s -U LENIENT_VCF_PROCESSING", 1, Arrays.asList("f301b089d21da259873f04bdc468835d")); + spec.disableShadowBCF(); executeTest("test BeagleInput", spec); } @@ -59,8 +61,9 @@ public class BeagleIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( "-T ProduceBeagleInput --variant:VCF /humgen/gsa-hpprojects/GATK/data/Validation_Data/NA12878_HSQ_chr22_14-16m.vcf "+ "--validation:VCF /humgen/gsa-hpprojects/GATK/data/Validation_Data/NA12878_OMNI_chr22_14-16m.vcf "+ - "-L 22:14000000-16000000 -o %s -bvcf %s -bs 0.8 -valp 0.98 -R /humgen/1kg/reference/human_g1k_v37.fasta -NO_HEADER ",2, - Arrays.asList("660986891b30cdc937e0f2a3a5743faa","e96ddd51da9f4a797b2aa8c20e404166")); + "-L 22:14000000-16000000 -o %s -bvcf %s -bs 0.8 -U LENIENT_VCF_PROCESSING -valp 0.98 -R /humgen/1kg/reference/human_g1k_v37.fasta --no_cmdline_in_header ",2, + Arrays.asList("660986891b30cdc937e0f2a3a5743faa","4b6417f892ccfe5c63b8a60cb0ef3740")); + spec.disableShadowBCF(); executeTest("test BeagleInputWithBootstrap",spec); } @@ -72,8 +75,8 @@ public class BeagleIntegrationTest extends WalkerTest { "--beagleR2:beagle /humgen/gsa-hpprojects/GATK/data/Validation_Data/EUR_beagle_in_test.r2 "+ "--beagleProbs:beagle /humgen/gsa-hpprojects/GATK/data/Validation_Data/EUR_beagle_in_test.gprobs.bgl "+ "--beaglePhased:beagle /humgen/gsa-hpprojects/GATK/data/Validation_Data/EUR_beagle_in_test.phased.bgl "+ - "-L 20:1-70000 -o %s -NO_HEADER ",1,Arrays.asList("ddbf490f1d9f37cc79fe414c8d40886f")); - + "-L 20:1-70000 -o %s --no_cmdline_in_header -U LENIENT_VCF_PROCESSING",1,Arrays.asList("d8906b67c7f9fdb5b37b8e9e050982d3")); + spec.disableShadowBCF(); executeTest("testBeagleChangesSitesToRef",spec); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRGathererUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRGathererUnitTest.java index 3829d2808..8e9f2533f 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRGathererUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRGathererUnitTest.java @@ -60,10 +60,10 @@ public class BQSRGathererUnitTest { * @param factor 1 to test for equality, any other value to multiply the original value and match with the calculated */ private void testTablesWithColumnsAndFactor(GATKReportTable original, GATKReportTable calculated, List columnsToTest, int factor) { - for (Object primaryKey : original.getPrimaryKeys()) { // tables don't necessarily have the same primary keys + for (int row = 0; row < original.getNumRows(); row++ ) { for (String column : columnsToTest) { - Object actual = calculated.get(primaryKey, column); - Object expected = original.get(primaryKey, column); + Object actual = calculated.get(new Integer(row), column); + Object expected = original.get(row, column); if (factor != 1) { if (expected instanceof Double) @@ -76,7 +76,7 @@ public class BQSRGathererUnitTest { expected = (Byte) expected * factor; } } - Assert.assertEquals(actual, expected, "Primary key: " + primaryKey + " Original Table: " + original.getTableName() + " Calc Table: " + calculated.getTableName()); + Assert.assertEquals(actual, expected, "Row: " + row + " Original Table: " + original.getTableName() + " Calc Table: " + calculated.getTableName()); } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRKeyManagerUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRKeyManagerUnitTest.java deleted file mode 100644 index c65cc3f63..000000000 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRKeyManagerUnitTest.java +++ /dev/null @@ -1,143 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.bqsr; - -import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; -import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; -import org.broadinstitute.sting.utils.sam.ReadUtils; -import org.testng.Assert; -import org.testng.annotations.BeforeClass; -import org.testng.annotations.Test; - -import java.util.ArrayList; -import java.util.BitSet; -import java.util.LinkedList; -import java.util.List; - -/** - * @author Mauricio Carneiro - * @since 3/7/12 - */ -public class BQSRKeyManagerUnitTest { - RecalibrationArgumentCollection RAC; - - @BeforeClass - public void init() { - RAC = new RecalibrationArgumentCollection(); - } - - @Test(enabled = false) - public void testCombineBitSets() { - final int nRequired = 2; - final ArrayList covariates = new ArrayList(); - covariates.add(new ReadGroupCovariate()); - covariates.add(new QualityScoreCovariate()); - covariates.add(new CycleCovariate()); - covariates.add(new ContextCovariate()); - createReadAndTest(covariates, nRequired); - } - - @Test(enabled = true) - public void testOnlyRequiredCovariates() { - final int nRequired = 2; - final ArrayList covariates = new ArrayList(2); - covariates.add(new ReadGroupCovariate()); - covariates.add(new QualityScoreCovariate()); - createReadAndTest(covariates, nRequired); - } - - @Test(enabled = true) - public void testOnlyOneCovariate() { - final int nRequired = 1; - final ArrayList covariates = new ArrayList(2); - covariates.add(new ReadGroupCovariate()); - createReadAndTest(covariates, nRequired); - } - - @Test(enabled = false) - public void testOneCovariateWithOptionalCovariates() { - final int nRequired = 1; - final ArrayList covariates = new ArrayList(4); - covariates.add(new ReadGroupCovariate()); - covariates.add(new QualityScoreCovariate()); - covariates.add(new CycleCovariate()); - covariates.add(new ContextCovariate()); - createReadAndTest(covariates, nRequired); - } - - private void createReadAndTest(List covariates, int nRequired) { - int readLength = 1000; - GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(ReadUtils.createRandomReadBases(readLength, true), ReadUtils.createRandomReadQuals(readLength), readLength + "M"); - read.setReadGroup(new GATKSAMReadGroupRecord("ID")); - read.getReadGroup().setPlatform("illumina"); - - runTestOnRead(read, covariates, nRequired); - read.setReadNegativeStrandFlag(true); - runTestOnRead(read, covariates, nRequired); - read.setReadPairedFlag(true); - read.setSecondOfPairFlag(true); - runTestOnRead(read, covariates, nRequired); - read.setReadNegativeStrandFlag(false); - runTestOnRead(read, covariates, nRequired); - } - - private void runTestOnRead(GATKSAMRecord read, List covariateList, int nRequired) { - final BitSet[][][] covariateKeys = new BitSet[covariateList.size()][EventType.values().length][]; - int i = 0; - for (Covariate cov : covariateList) { - cov.initialize(RAC); - CovariateValues covValues = cov.getValues(read); - covariateKeys[i][EventType.BASE_SUBSTITUTION.index] = covValues.getMismatches(); - covariateKeys[i][EventType.BASE_INSERTION.index] = covValues.getInsertions(); - covariateKeys[i][EventType.BASE_DELETION.index] = covValues.getDeletions(); - i++; - } - List requiredCovariates = new LinkedList(); - List optionalCovariates = new LinkedList(); - - for (int j=0; j hashKeys = keyManager.bitSetsFromAllKeys(keySet, EventType.eventFrom(eventType)); - short cov = 0; - for (BitSet key : hashKeys) { - Object[] actual = keyManager.keySetFrom(key).toArray(); - - // Build the expected array - Object[] expected = new Object[nRequired + (optionalCovariates.size() > 0 ? 3 : 1)]; - System.arraycopy(expectedRequired, 0, expected, 0, nRequired); - if (optionalCovariates.size() > 0) { - expected[expected.length-3] = expectedCovariate[cov]; - expected[expected.length-2] = optionalCovariates.get(cov++).getClass().getSimpleName().split("Covariate")[0]; - } - expected[expected.length-1] = EventType.eventFrom(eventType); - -// System.out.println("Actual : " + Utils.join(",", Arrays.asList(actual))); -// System.out.println("Expected: " + Utils.join(",", Arrays.asList(expected))); -// System.out.println(); - - for (int k = 0; k < expected.length; k++) - Assert.assertEquals(actual[k], expected[k]); - } - } - } - } -} diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ContextCovariateUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ContextCovariateUnitTest.java index 5a522e81e..553b7e237 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ContextCovariateUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ContextCovariateUnitTest.java @@ -8,8 +8,6 @@ import org.testng.Assert; import org.testng.annotations.BeforeClass; import org.testng.annotations.Test; -import java.util.BitSet; - /** * @author Mauricio Carneiro * @since 3/1/12 @@ -30,15 +28,17 @@ public class ContextCovariateUnitTest { public void testSimpleContexts() { GATKSAMRecord read = ReadUtils.createRandomRead(1000); GATKSAMRecord clippedRead = ReadClipper.clipLowQualEnds(read, RAC.LOW_QUAL_TAIL, ClippingRepresentation.WRITE_NS); - CovariateValues values = covariate.getValues(read); - verifyCovariateArray(values.getMismatches(), RAC.MISMATCHES_CONTEXT_SIZE, clippedRead, covariate); - verifyCovariateArray(values.getInsertions(), RAC.INSERTIONS_CONTEXT_SIZE, clippedRead, covariate); - verifyCovariateArray(values.getDeletions(), RAC.DELETIONS_CONTEXT_SIZE, clippedRead, covariate); + ReadCovariates readCovariates = new ReadCovariates(read.getReadLength(), 1); + covariate.recordValues(read, readCovariates); + + verifyCovariateArray(readCovariates.getMismatchesKeySet(), RAC.MISMATCHES_CONTEXT_SIZE, clippedRead, covariate); + verifyCovariateArray(readCovariates.getInsertionsKeySet(), RAC.INDELS_CONTEXT_SIZE, clippedRead, covariate); + verifyCovariateArray(readCovariates.getDeletionsKeySet(), RAC.INDELS_CONTEXT_SIZE, clippedRead, covariate); } - public static void verifyCovariateArray(BitSet[] values, int contextSize, GATKSAMRecord read, Covariate contextCovariate) { + public static void verifyCovariateArray(int[][] values, int contextSize, GATKSAMRecord read, Covariate contextCovariate) { for (int i = 0; i < values.length; i++) - Assert.assertEquals(contextCovariate.keyFromBitSet(values[i]), expectedContext(read, i, contextSize)); + Assert.assertEquals(contextCovariate.formatKey(values[i][0]), expectedContext(read, i, contextSize)); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/CycleCovariateUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/CycleCovariateUnitTest.java index dc8e091ba..3fa1e916d 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/CycleCovariateUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/CycleCovariateUnitTest.java @@ -7,8 +7,6 @@ import org.testng.Assert; import org.testng.annotations.BeforeClass; import org.testng.annotations.Test; -import java.util.BitSet; - /** * @author Mauricio Carneiro * @since 3/1/12 @@ -32,25 +30,26 @@ public class CycleCovariateUnitTest { read.setReadGroup(new GATKSAMReadGroupRecord("MY.ID")); read.getReadGroup().setPlatform("illumina"); - CovariateValues values = covariate.getValues(read); - verifyCovariateArray(values.getMismatches(), (short) 1, (short) 1); + ReadCovariates readCovariates = new ReadCovariates(read.getReadLength(), 1); + covariate.recordValues(read, readCovariates); + verifyCovariateArray(readCovariates.getMismatchesKeySet(), 1, (short) 1); read.setReadNegativeStrandFlag(true); - values = covariate.getValues(read); - verifyCovariateArray(values.getMismatches(), readLength, (short) -1); + covariate.recordValues(read, readCovariates); + verifyCovariateArray(readCovariates.getMismatchesKeySet(), readLength, -1); read.setSecondOfPairFlag(true); - values = covariate.getValues(read); - verifyCovariateArray(values.getMismatches(), (short) -readLength, (short) 1); + covariate.recordValues(read, readCovariates); + verifyCovariateArray(readCovariates.getMismatchesKeySet(), -readLength, 1); read.setReadNegativeStrandFlag(false); - values = covariate.getValues(read); - verifyCovariateArray(values.getMismatches(), (short) -1, (short) -1); + covariate.recordValues(read, readCovariates); + verifyCovariateArray(readCovariates.getMismatchesKeySet(), -1, -1); } - private void verifyCovariateArray(BitSet[] values, short init, short increment) { + private void verifyCovariateArray(int[][] values, int init, int increment) { for (short i = 0; i < values.length; i++) { - short actual = Short.decode(covariate.keyFromBitSet(values[i])); + short actual = Short.decode(covariate.formatKey(values[i][0])); int expected = init + (increment * i); // System.out.println(String.format("%d: %d, %d", i, actual, expected)); Assert.assertEquals(actual, expected); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ReadCovariatesUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ReadCovariatesUnitTest.java index a74e011c2..37994cf12 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ReadCovariatesUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ReadCovariatesUnitTest.java @@ -6,9 +6,6 @@ import org.broadinstitute.sting.utils.sam.ReadUtils; import org.testng.Assert; import org.testng.annotations.Test; -import java.util.ArrayList; -import java.util.List; - /** * @author carneiro * @since 4/21/12 @@ -38,11 +35,11 @@ public class ReadCovariatesUnitTest { coCov.initialize(RAC); cyCov.initialize(RAC); - List requestedCovariates = new ArrayList(4); - requestedCovariates.add(rgCov); - requestedCovariates.add(qsCov); - requestedCovariates.add(coCov); - requestedCovariates.add(cyCov); + Covariate[] requestedCovariates = new Covariate[4]; + requestedCovariates[0] = rgCov; + requestedCovariates[1] = qsCov; + requestedCovariates[2] = coCov; + requestedCovariates[3] = cyCov; ReadCovariates rc = RecalDataManager.computeCovariates(read, requestedCovariates); @@ -53,24 +50,24 @@ public class ReadCovariatesUnitTest { for (int i = 0; i < length; i++) { // check that read group is always the same - Assert.assertEquals(rgCov.keyFromBitSet(rc.getMismatchesKeySet(i)[0]), RGID); - Assert.assertEquals(rgCov.keyFromBitSet(rc.getInsertionsKeySet(i)[0]), RGID); - Assert.assertEquals(rgCov.keyFromBitSet(rc.getDeletionsKeySet(i)[0]), RGID); + Assert.assertEquals(rgCov.formatKey(rc.getMismatchesKeySet(i)[0]), RGID); + Assert.assertEquals(rgCov.formatKey(rc.getInsertionsKeySet(i)[0]), RGID); + Assert.assertEquals(rgCov.formatKey(rc.getDeletionsKeySet(i)[0]), RGID); // check quality score - Assert.assertEquals(qsCov.keyFromBitSet(rc.getMismatchesKeySet(i)[1]), "" + mQuals[i]); - Assert.assertEquals(qsCov.keyFromBitSet(rc.getInsertionsKeySet(i)[1]), "" + iQuals[i]); - Assert.assertEquals(qsCov.keyFromBitSet(rc.getDeletionsKeySet(i)[1]), "" + dQuals[i]); + Assert.assertEquals(qsCov.formatKey(rc.getMismatchesKeySet(i)[1]), "" + mQuals[i]); + Assert.assertEquals(qsCov.formatKey(rc.getInsertionsKeySet(i)[1]), "" + iQuals[i]); + Assert.assertEquals(qsCov.formatKey(rc.getDeletionsKeySet(i)[1]), "" + dQuals[i]); // check context - Assert.assertEquals(coCov.keyFromBitSet(rc.getMismatchesKeySet(i)[2]), ContextCovariateUnitTest.expectedContext(read, i, RAC.MISMATCHES_CONTEXT_SIZE)); - Assert.assertEquals(coCov.keyFromBitSet(rc.getInsertionsKeySet(i)[2]), ContextCovariateUnitTest.expectedContext(read, i, RAC.INSERTIONS_CONTEXT_SIZE)); - Assert.assertEquals(coCov.keyFromBitSet(rc.getDeletionsKeySet(i)[2]), ContextCovariateUnitTest.expectedContext(read, i, RAC.DELETIONS_CONTEXT_SIZE)); + Assert.assertEquals(coCov.formatKey(rc.getMismatchesKeySet(i)[2]), ContextCovariateUnitTest.expectedContext(read, i, RAC.MISMATCHES_CONTEXT_SIZE)); + Assert.assertEquals(coCov.formatKey(rc.getInsertionsKeySet(i)[2]), ContextCovariateUnitTest.expectedContext(read, i, RAC.INDELS_CONTEXT_SIZE)); + Assert.assertEquals(coCov.formatKey(rc.getDeletionsKeySet(i)[2]), ContextCovariateUnitTest.expectedContext(read, i, RAC.INDELS_CONTEXT_SIZE)); // check cycle - Assert.assertEquals(cyCov.keyFromBitSet(rc.getMismatchesKeySet(i)[3]), "" + (i+1)); - Assert.assertEquals(cyCov.keyFromBitSet(rc.getInsertionsKeySet(i)[3]), "" + (i+1)); - Assert.assertEquals(cyCov.keyFromBitSet(rc.getDeletionsKeySet(i)[3]), "" + (i+1)); + Assert.assertEquals(cyCov.formatKey(rc.getMismatchesKeySet(i)[3]), "" + (i+1)); + Assert.assertEquals(cyCov.formatKey(rc.getInsertionsKeySet(i)[3]), "" + (i+1)); + Assert.assertEquals(cyCov.formatKey(rc.getDeletionsKeySet(i)[3]), "" + (i+1)); } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ReadGroupCovariateUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ReadGroupCovariateUnitTest.java index f087ef0dd..a83508353 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ReadGroupCovariateUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/ReadGroupCovariateUnitTest.java @@ -7,8 +7,6 @@ import org.testng.Assert; import org.testng.annotations.BeforeClass; import org.testng.annotations.Test; -import java.util.BitSet; - /** * @author Mauricio Carneiro * @since 3/1/12 @@ -42,14 +40,15 @@ public class ReadGroupCovariateUnitTest { private void runTest(GATKSAMReadGroupRecord rg, String expected) { GATKSAMRecord read = ReadUtils.createRandomRead(10); read.setReadGroup(rg); - CovariateValues values = covariate.getValues(read); - verifyCovariateArray(values.getMismatches(), expected); + ReadCovariates readCovariates = new ReadCovariates(read.getReadLength(), 1); + covariate.recordValues(read, readCovariates); + verifyCovariateArray(readCovariates.getMismatchesKeySet(), expected); } - private void verifyCovariateArray(BitSet[] values, String expected) { - for (BitSet value : values) { - String actual = covariate.keyFromBitSet(value); + private void verifyCovariateArray(int[][] values, String expected) { + for (int[] value : values) { + String actual = covariate.formatKey(value[0]); Assert.assertEquals(actual, expected); } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationReportUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationReportUnitTest.java index b39d21d80..e4a77c016 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationReportUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationReportUnitTest.java @@ -1,7 +1,9 @@ package org.broadinstitute.sting.gatk.walkers.bqsr; import org.broadinstitute.sting.utils.QualityUtils; +import org.broadinstitute.sting.utils.collections.NestedIntegerArray; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.recalibration.RecalibrationTables; import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; @@ -32,24 +34,18 @@ public class RecalibrationReportUnitTest { final QuantizationInfo quantizationInfo = new QuantizationInfo(quals, counts); final RecalibrationArgumentCollection RAC = new RecalibrationArgumentCollection(); - final LinkedHashMap> keysAndTablesMap = new LinkedHashMap>(); quantizationInfo.noQuantization(); final List requiredCovariates = new LinkedList(); final List optionalCovariates = new LinkedList(); - final List requestedCovariates = new LinkedList(); final ReadGroupCovariate rgCovariate = new ReadGroupCovariate(); rgCovariate.initialize(RAC); requiredCovariates.add(rgCovariate); - final BQSRKeyManager rgKeyManager = new BQSRKeyManager(requiredCovariates, optionalCovariates); - keysAndTablesMap.put(rgKeyManager, new HashMap()); final QualityScoreCovariate qsCovariate = new QualityScoreCovariate(); qsCovariate.initialize(RAC); requiredCovariates.add(qsCovariate); - final BQSRKeyManager qsKeyManager = new BQSRKeyManager(requiredCovariates, optionalCovariates); - keysAndTablesMap.put(qsKeyManager, new HashMap()); final ContextCovariate cxCovariate = new ContextCovariate(); cxCovariate.initialize(RAC); @@ -57,13 +53,13 @@ public class RecalibrationReportUnitTest { final CycleCovariate cyCovariate = new CycleCovariate(); cyCovariate.initialize(RAC); optionalCovariates.add(cyCovariate); - BQSRKeyManager cvKeyManager = new BQSRKeyManager(requiredCovariates, optionalCovariates); - keysAndTablesMap.put(cvKeyManager, new HashMap()); - for (Covariate cov : requiredCovariates) - requestedCovariates.add(cov); - for (Covariate cov : optionalCovariates) - requestedCovariates.add(cov); + final Covariate[] requestedCovariates = new Covariate[requiredCovariates.size() + optionalCovariates.size()]; + int covariateIndex = 0; + for (final Covariate cov : requiredCovariates) + requestedCovariates[covariateIndex++] = cov; + for (final Covariate cov : optionalCovariates) + requestedCovariates[covariateIndex++] = cov; final GATKSAMReadGroupRecord rg = new GATKSAMReadGroupRecord("id"); rg.setPlatform("illumina"); @@ -74,36 +70,34 @@ public class RecalibrationReportUnitTest { readQuals[i] = 20; read.setBaseQualities(readQuals); - - final int expectedKeys = expectedNumberOfKeys(4, length, RAC.INSERTIONS_CONTEXT_SIZE, RAC.MISMATCHES_CONTEXT_SIZE); + final int expectedKeys = expectedNumberOfKeys(4, length, RAC.INDELS_CONTEXT_SIZE, RAC.MISMATCHES_CONTEXT_SIZE); int nKeys = 0; // keep track of how many keys were produced final ReadCovariates rc = RecalDataManager.computeCovariates(read, requestedCovariates); + + final RecalibrationTables recalibrationTables = new RecalibrationTables(requestedCovariates); + final NestedIntegerArray rgTable = recalibrationTables.getTable(RecalibrationTables.TableType.READ_GROUP_TABLE); + final NestedIntegerArray qualTable = recalibrationTables.getTable(RecalibrationTables.TableType.QUALITY_SCORE_TABLE); + for (int offset = 0; offset < length; offset++) { - for (Map.Entry> entry : keysAndTablesMap.entrySet()) { - BQSRKeyManager keyManager = entry.getKey(); - Map table = entry.getValue(); - for (BitSet key : keyManager.bitSetsFromAllKeys(rc.getMismatchesKeySet(offset), EventType.BASE_SUBSTITUTION)) { - table.put(key, RecalDatum.createRandomRecalDatum(10000, 10)); + for (EventType errorMode : EventType.values()) { + + final int[] covariates = rc.getKeySet(offset, errorMode); + final int randomMax = errorMode == EventType.BASE_SUBSTITUTION ? 10000 : 100000; + + rgTable.put(RecalDatum.createRandomRecalDatum(randomMax, 10), covariates[0], errorMode.index); + qualTable.put(RecalDatum.createRandomRecalDatum(randomMax, 10), covariates[0], covariates[1], errorMode.index); + nKeys += 2; + for (int j = 0; j < optionalCovariates.size(); j++) { + final NestedIntegerArray covTable = recalibrationTables.getTable(RecalibrationTables.TableType.OPTIONAL_COVARIATE_TABLES_START.index + j); + covTable.put(RecalDatum.createRandomRecalDatum(randomMax, 10), covariates[0], covariates[1], j, covariates[RecalibrationTables.TableType.OPTIONAL_COVARIATE_TABLES_START.index + j], errorMode.index); nKeys++; } - - for (BitSet key : keyManager.bitSetsFromAllKeys(rc.getInsertionsKeySet(offset), EventType.BASE_INSERTION)) { - table.put(key, RecalDatum.createRandomRecalDatum(100000, 10)); - nKeys++; - } - - - for (BitSet key : keyManager.bitSetsFromAllKeys(rc.getDeletionsKeySet(offset), EventType.BASE_DELETION)) { - table.put(key, RecalDatum.createRandomRecalDatum(100000, 10)); - nKeys++; - } - } } Assert.assertEquals(nKeys, expectedKeys); - RecalibrationReport report = new RecalibrationReport(quantizationInfo, keysAndTablesMap, RAC.generateReportTable(), RAC); + final RecalibrationReport report = new RecalibrationReport(quantizationInfo, recalibrationTables, RAC.generateReportTable(), RAC); File output = new File("RecalibrationReportUnitTestOutuput.grp"); PrintStream out; diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycleIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycleIntegrationTest.java index 7c705de18..856fd73a3 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycleIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycleIntegrationTest.java @@ -35,7 +35,7 @@ public class ErrorRatePerCycleIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( "-T ErrorRatePerCycle -R " + b37KGReference + " -I " + b37GoodBAM + " -L 20:10,000,000-10,100,000 -o %s", 1, - Arrays.asList("71685716c7dde64c51bbd908c06ea742")); + Arrays.asList("dccdf3cb3193d01a1a767097e4a5c35e")); executeTest("ErrorRatePerCycle:", spec); } } \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupPropertiesIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupPropertiesIntegrationTest.java index 0f3750abd..6b7c5afa9 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupPropertiesIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupPropertiesIntegrationTest.java @@ -38,7 +38,7 @@ public class ReadGroupPropertiesIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( "-T ReadGroupProperties -R " + b37KGReference + " -I " + b37GoodBAM + " -L 20:10,000,000-11,000,000 -o %s", 1, - Arrays.asList("3f1f97a1d2c5fb552ed4f33ea30d136d")); + Arrays.asList("618a671c61014deb3b284061a87b61d6")); executeTest("ReadGroupProperties:", spec); } } \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/DiagnoseTargetsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/DiagnoseTargetsIntegrationTest.java new file mode 100644 index 000000000..55b04f1b8 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/DiagnoseTargetsIntegrationTest.java @@ -0,0 +1,54 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; + +import org.broadinstitute.sting.WalkerTest; +import org.testng.annotations.Test; + +import java.util.Arrays; + +public class DiagnoseTargetsIntegrationTest extends WalkerTest { + final static String REF = b37KGReference; + final String singleSample = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.bam"; + final String multiSample = validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam"; + final String L = validationDataLocation + "DT-itest.interval_list"; + + private void DTTest(String testName, String args, String md5) { + String base = String.format("-T DiagnoseTargets --no_cmdline_in_header -R %s -L %s", REF, L) + " -o %s "; + WalkerTestSpec spec = new WalkerTestSpec(base + args, Arrays.asList(md5)); + //spec.disableShadowBCF(); + executeTest(testName, spec); + } + + @Test(enabled = true) + public void testSingleSample() { + DTTest("testSingleSample ", "-I " + singleSample + " -max 75", "9954b21163d3e66db232938ec509067f"); + } + + @Test(enabled = true) + public void testMultiSample() { + DTTest("testMultiSample ", "-I " + multiSample, "7c5277261e8e9dd74666f04843ffb09c"); + } +} diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/LocusStatisticsUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/LocusStatisticsUnitTest.java new file mode 100644 index 000000000..c70adcc1a --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/LocusStatisticsUnitTest.java @@ -0,0 +1,63 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; + +import org.testng.Assert; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.Set; + +public class LocusStatisticsUnitTest /*extends BaseTest*/ { + + @Test(dataProvider = "StatusTestValues") + public void testCallableStatuses(int coverage, int rawCoverage, CallableStatus status) { + // The min Coverage threshold is 10, the max is 100 + ThresHolder thresholds = new ThresHolder(20, 20, 10, 100, 20, 50, 0.5, 0.2, 0.5, 0.2, 0.2, 0.5); + Set statuses = new LocusStatistics(coverage, rawCoverage).callableStatuses(thresholds); + // Check to make sure the status provides matches the actual + Assert.assertTrue((status == null) ? statuses.isEmpty() : (statuses.contains(status) && statuses.size() == 1)); + + } + + @DataProvider(name = "StatusTestValues") + public Object[][] getStatusTestValues() { + return new Object[][]{ + new Object[]{100, 100, null}, + new Object[]{100, 101, null}, + new Object[]{101, 101, CallableStatus.EXCESSIVE_COVERAGE}, + new Object[]{10, 101, null}, + new Object[]{9, 101, CallableStatus.POOR_QUALITY}, + new Object[]{9, 10, CallableStatus.POOR_QUALITY}, + new Object[]{9, 9, CallableStatus.LOW_COVERAGE}, + new Object[]{0, 0, CallableStatus.COVERAGE_GAPS}, + new Object[]{0, 9, CallableStatus.LOW_COVERAGE}, + new Object[]{0, 101, CallableStatus.POOR_QUALITY}, + new Object[]{10, Integer.MAX_VALUE, null}, + new Object[]{Integer.MAX_VALUE, Integer.MAX_VALUE, CallableStatus.EXCESSIVE_COVERAGE}, + }; + } + +} diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/SampleStatisticsUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/SampleStatisticsUnitTest.java new file mode 100644 index 000000000..4db5b6156 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/SampleStatisticsUnitTest.java @@ -0,0 +1,99 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; + +import net.sf.samtools.SAMFileHeader; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.testng.Assert; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +public class SampleStatisticsUnitTest/* extends BaseTest */ { + + @DataProvider(name = "QuartileValues") + public Object[][] getQuantileValues() { + + int[] a1 = {5}; + int[] a2 = {1, 2}; + int[] a5 = {10, 20, 30, 40, 50}; + int[] a10 = {1, 2, 3, 4, 5, 6, 7, 8, 9, 10}; + + + return new Object[][]{ + new Object[]{a1, 0.5, 5}, + new Object[]{a1, 0, 5}, + new Object[]{a1, 1, 5}, + new Object[]{a2, 0.5, 1.5}, + new Object[]{a2, 0.25, 1}, + new Object[]{a2, 0.75, 2}, + new Object[]{a5, 0.5, 30}, + new Object[]{a5, 0.25, 20}, + new Object[]{a5, 0.75, 40}, + new Object[]{a5, 0, -1}, + new Object[]{a10, 0.5, 5.5}, + new Object[]{a10, 0.25, 3}, + new Object[]{a10, 0.75, 8} + }; + } + + @Test(dataProvider = "QuartileValues") + public void testGetQuartile(int[] dataList, double percentage, double expected) { + Assert.assertEquals(SampleStatistics.getQuartile(dataList, percentage), expected); + + } + + @DataProvider(name = "ReadsAndMates") + public Object[][] getReadAndMates() { + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000); + + GATKSAMRecord noPair = ArtificialSAMUtils.createArtificialRead(header, "test", 0, 100, 50); + GATKSAMRecord good = ArtificialSAMUtils.createPair(header, "test", 30, 100, 150, true, false).get(0); + GATKSAMRecord bigInsertSize = ArtificialSAMUtils.createPair(header, "test", 30, 100, 151, true, false).get(0); + GATKSAMRecord inverted = ArtificialSAMUtils.createPair(header, "test", 30, 151, 150, true, false).get(0); + GATKSAMRecord sameOrientation = ArtificialSAMUtils.createPair(header, "test", 30, 100, 151, true, true).get(0); + + GATKSAMRecord pairNotMapped = ArtificialSAMUtils.createPair(header, "test", 30, 100, 140, true, false).get(1); + pairNotMapped.setMateUnmappedFlag(true); + + // finish test + return new Object[][]{ + new Object[]{noPair, false}, + new Object[]{good, true}, + new Object[]{bigInsertSize, false}, + new Object[]{inverted, false}, + new Object[]{sameOrientation, false}, + new Object[]{pairNotMapped, false} + }; + } + + @Test(dataProvider = "ReadsAndMates") + public void testHasValidMate(GATKSAMRecord read, boolean expected) { + //50 is out maximum insert size + Assert.assertEquals(new SampleStatistics(GenomeLoc.UNMAPPED).hasValidMate(read, ThresHolder.DEFAULTS), expected); + } + +} diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjectsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjectsIntegrationTest.java index 4a83c34cc..e3461421d 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjectsIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjectsIntegrationTest.java @@ -35,12 +35,14 @@ public class DiffObjectsIntegrationTest extends WalkerTest { private class TestParams extends TestDataProvider { public File master, test; public String MD5; + public boolean doPairwise; - private TestParams(String master, String test, String MD5) { + private TestParams(String master, String test, final boolean doPairwise, String MD5) { super(TestParams.class); this.master = new File(master); this.test = new File(test); this.MD5 = MD5; + this.doPairwise = doPairwise; } public String toString() { @@ -50,8 +52,10 @@ public class DiffObjectsIntegrationTest extends WalkerTest { @DataProvider(name = "data") public Object[][] createData() { - new TestParams(testDir + "diffTestMaster.vcf", testDir + "diffTestTest.vcf", "dba5eab2b9587c1062721b164e4fd9a6"); - new TestParams(testDir + "exampleBAM.bam", testDir + "exampleBAM.simple.bam", "de35c93450b46db5fc5516af3c55d62a"); + new TestParams(privateTestDir + "diffTestMaster.vcf", privateTestDir + "diffTestTest.vcf", true, "aea3d5df32a2acd400da48d06b4dbc60"); + new TestParams(publicTestDir + "exampleBAM.bam", publicTestDir + "exampleBAM.simple.bam", true, "3f46f5a964f7c34015d972256fe49a35"); + new TestParams(privateTestDir + "diffTestMaster.vcf", privateTestDir + "diffTestTest.vcf", false, "e71e23e7ebfbe768e59527bc62f8918d"); + new TestParams(publicTestDir + "exampleBAM.bam", publicTestDir + "exampleBAM.simple.bam", false, "47bf16c27c9e2c657a7e1d13f20880c9"); return TestParams.getTests(TestParams.class); } @@ -61,6 +65,7 @@ public class DiffObjectsIntegrationTest extends WalkerTest { "-T DiffObjects -R public/testdata/exampleFASTA.fasta " + " -m " + params.master + " -t " + params.test + + (params.doPairwise ? " -doPairwise " : "") + " -o %s", Arrays.asList(params.MD5)); executeTest("testDiffObjects:"+params, spec).getFirst(); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/diffengine/DiffableReaderUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/diffengine/DiffableReaderUnitTest.java index 46b0df5b4..c1c22aceb 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/diffengine/DiffableReaderUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/diffengine/DiffableReaderUnitTest.java @@ -29,8 +29,8 @@ package org.broadinstitute.sting.gatk.walkers.diffengine; // the imports for unit testing. -import net.sf.samtools.SAMRecord; import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.testng.Assert; import org.testng.annotations.BeforeClass; @@ -45,8 +45,8 @@ import java.util.*; public class DiffableReaderUnitTest extends BaseTest { DiffEngine engine; - File vcfFile = new File(testDir + "diffTestMaster.vcf"); - File bamFile = new File(testDir + "exampleBAM.bam"); + File vcfFile = new File(privateTestDir + "diffTestMaster.vcf"); + File bamFile = new File(publicTestDir + "exampleBAM.bam"); @BeforeClass(enabled = true) public void createDiffEngine() { @@ -97,7 +97,7 @@ public class DiffableReaderUnitTest extends BaseTest { testLeaf(rec1, "REF", Allele.create("G", true)); testLeaf(rec1, "ALT", Arrays.asList(Allele.create("A"))); testLeaf(rec1, "QUAL", 0.15); - testLeaf(rec1, "FILTER", Collections.emptySet()); + testLeaf(rec1, "FILTER", VCFConstants.PASSES_FILTERS_v4); testLeaf(rec1, "AC", "2"); testLeaf(rec1, "AF", "1.00"); testLeaf(rec1, "AN", "2"); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/filters/VariantFiltrationIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/filters/VariantFiltrationIntegrationTest.java index 2c04cebd4..ae5128c75 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/filters/VariantFiltrationIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/filters/VariantFiltrationIntegrationTest.java @@ -8,95 +8,95 @@ import java.util.Arrays; public class VariantFiltrationIntegrationTest extends WalkerTest { public static String baseTestString() { - return "-T VariantFiltration -o %s -NO_HEADER -R " + b36KGReference; + return "-T VariantFiltration -o %s --no_cmdline_in_header -R " + b36KGReference; } @Test public void testNoAction() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, - Arrays.asList("8a105fa5eebdfffe7326bc5b3d8ffd1c")); + baseTestString() + " --variant " + privateTestDir + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, + Arrays.asList("a890cd298298e22bc04a2e5a20b71170")); executeTest("test no action", spec); } @Test public void testClusteredSnps() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " -window 10 --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, - Arrays.asList("27b13f179bb4920615dff3a32730d845")); + baseTestString() + " -window 10 --variant " + privateTestDir + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, + Arrays.asList("f46b2fe2dbe6a423b5cfb10d74a4966d")); executeTest("test clustered SNPs", spec); } @Test public void testMask1() { WalkerTestSpec spec1 = new WalkerTestSpec( - baseTestString() + " -maskName foo --mask:VCF3 " + validationDataLocation + "vcfexample2.vcf --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, - Arrays.asList("578f9e774784c25871678e6464fd212b")); + baseTestString() + " -maskName foo --mask " + privateTestDir + "vcfexample2.vcf --variant " + privateTestDir + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, + Arrays.asList("86dbbf62a0623b2dc5e8969c26d8cb28")); executeTest("test mask all", spec1); } @Test public void testMask2() { WalkerTestSpec spec2 = new WalkerTestSpec( - baseTestString() + " -maskName foo --mask:VCF " + validationDataLocation + "vcfMask.vcf --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, - Arrays.asList("bfa86a674aefca1b13d341cb14ab3c4f")); + baseTestString() + " -maskName foo --mask:VCF " + privateTestDir + "vcfMask.vcf --variant " + privateTestDir + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, + Arrays.asList("2fb33fccda1eafeea7a2f8f9219baa39")); executeTest("test mask some", spec2); } @Test public void testMask3() { WalkerTestSpec spec3 = new WalkerTestSpec( - baseTestString() + " -maskName foo -maskExtend 10 --mask:VCF " + validationDataLocation + "vcfMask.vcf --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, - Arrays.asList("5939f80d14b32d88587373532d7b90e5")); + baseTestString() + " -maskName foo -maskExtend 10 --mask:VCF " + privateTestDir + "vcfMask.vcf --variant " + privateTestDir + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, + Arrays.asList("4351e00bd9d821e37cded5a86100c973")); executeTest("test mask extend", spec3); } @Test public void testFilter1() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " -filter 'DoC < 20 || FisherStrand > 20.0' -filterName foo --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, - Arrays.asList("45219dbcfb6f81bba2ea0c35f5bfd368")); + baseTestString() + " -filter 'DoC < 20 || FisherStrand > 20.0' -filterName foo --variant " + privateTestDir + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, + Arrays.asList("2f056b50a41c8e6ba7645ff4c777966d")); executeTest("test filter #1", spec); } @Test public void testFilter2() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " -filter 'AlleleBalance < 70.0 && FisherStrand == 1.4' -filterName bar --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, - Arrays.asList("c95845e817da7352b9b72bc9794f18fb")); + baseTestString() + " -filter 'AlleleBalance < 70.0 && FisherStrand == 1.4' -filterName bar --variant " + privateTestDir + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, + Arrays.asList("b2a8c1a5d99505be79c03120e9d75f2f")); executeTest("test filter #2", spec); } @Test public void testFilterWithSeparateNames() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --filterName ABF -filter 'AlleleBalance < 0.7' --filterName FSF -filter 'FisherStrand == 1.4' --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, - Arrays.asList("b8cdd7f44ff1a395e0a9b06a87e1e530")); + baseTestString() + " --filterName ABF -filter 'AlleleBalance < 0.7' --filterName FSF -filter 'FisherStrand == 1.4' --variant " + privateTestDir + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, + Arrays.asList("e350d9789bbdf334c1677506590d0798")); executeTest("test filter with separate names #2", spec); } @Test public void testGenotypeFilters1() { WalkerTestSpec spec1 = new WalkerTestSpec( - baseTestString() + " -G_filter 'GQ == 0.60' -G_filterName foo --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, - Arrays.asList("96b61e4543a73fe725e433f007260039")); + baseTestString() + " -G_filter 'GQ == 0.60' -G_filterName foo --variant " + privateTestDir + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, + Arrays.asList("060e9e7b6faf8b2f7b3291594eb6b39c")); executeTest("test genotype filter #1", spec1); } @Test public void testGenotypeFilters2() { WalkerTestSpec spec2 = new WalkerTestSpec( - baseTestString() + " -G_filter 'AF == 0.04 && isHomVar == 1' -G_filterName foo --variant:VCF3 " + validationDataLocation + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, - Arrays.asList("6c8112ab17ce39c8022c891ae73bf38e")); + baseTestString() + " -G_filter 'isHomVar == 1' -G_filterName foo --variant " + privateTestDir + "vcfexample2.vcf -L 1:10,020,000-10,021,000", 1, + Arrays.asList("00f90028a8c0d56772c47f039816b585")); executeTest("test genotype filter #2", spec2); } @Test public void testDeletions() { WalkerTestSpec spec = new WalkerTestSpec( - baseTestString() + " --filterExpression 'QUAL < 100' --filterName foo --variant:VCF " + validationDataLocation + "twoDeletions.vcf", 1, - Arrays.asList("569546fd798afa0e65c5b61b440d07ac")); + baseTestString() + " --filterExpression 'QUAL < 100' --filterName foo --variant:VCF " + privateTestDir + "twoDeletions.vcf", 1, + Arrays.asList("8077eb3bab5ff98f12085eb04176fdc9")); executeTest("test deletions", spec); } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/ArtificialReadPileupTestProvider.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/ArtificialReadPileupTestProvider.java index b1720e509..256f93473 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/ArtificialReadPileupTestProvider.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/ArtificialReadPileupTestProvider.java @@ -26,10 +26,13 @@ package org.broadinstitute.sting.gatk.walkers.genotyper; import net.sf.samtools.SAMFileHeader; import net.sf.samtools.SAMReadGroupRecord; +import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.pileup.ReadBackedPileupImpl; @@ -94,10 +97,14 @@ public class ArtificialReadPileupTestProvider { public GenomeLocParser getGenomeLocParser() { return genomeLocParser; } public Map getAlignmentContextFromAlleles(int eventLength, String altBases, int[] numReadsPerAllele) { + return getAlignmentContextFromAlleles(eventLength, altBases, numReadsPerAllele, false, BASE_QUAL); + } + public Map getAlignmentContextFromAlleles(int eventLength, String altBases, int[] numReadsPerAllele, + boolean addBaseErrors, int phredScaledBaseErrorRate) { // RefMetaDataTracker tracker = new RefMetaDataTracker(null,referenceContext); - ArrayList vcAlleles = new ArrayList(); + ArrayList vcAlleles = new ArrayList(); Allele refAllele, altAllele; if (eventLength == 0) {// SNP case refAllele =Allele.create(refBases.substring(offset,offset+1),true); @@ -128,7 +135,7 @@ public class ArtificialReadPileupTestProvider { Map contexts = new HashMap(); for (String sample: sampleNames) { - AlignmentContext context = new AlignmentContext(loc, generateRBPForVariant(loc,vc, altBases, numReadsPerAllele, sample)); + AlignmentContext context = new AlignmentContext(loc, generateRBPForVariant(loc,vc, altBases, numReadsPerAllele, sample, addBaseErrors, phredScaledBaseErrorRate)); contexts.put(sample,context); } @@ -143,7 +150,7 @@ public class ArtificialReadPileupTestProvider { return rg; } private ReadBackedPileup generateRBPForVariant( GenomeLoc loc, VariantContext vc, String altBases, - int[] numReadsPerAllele, String sample) { + int[] numReadsPerAllele, String sample, boolean addErrors, int phredScaledErrorRate) { List pileupElements = new ArrayList(); int readStart = contigStart; int offset = (contigStop-contigStart+1)/2; @@ -158,8 +165,11 @@ public class ArtificialReadPileupTestProvider { for ( int d = 0; d < numReadsPerAllele[alleleCounter]; d++ ) { byte[] readBases = trueHaplotype(allele, offset, refAlleleLength); + if (addErrors) + addBaseErrors(readBases, phredScaledErrorRate); + byte[] readQuals = new byte[readBases.length]; - Arrays.fill(readQuals, (byte)BASE_QUAL); + Arrays.fill(readQuals, (byte)phredScaledErrorRate); GATKSAMRecord read = new GATKSAMRecord(header); read.setBaseQualities(readQuals); @@ -208,4 +218,20 @@ public class ArtificialReadPileupTestProvider { } + private void addBaseErrors(final byte[] readBases, final int phredScaledErrorRate) { + double errorProbability = QualityUtils.qualToErrorProb((byte)phredScaledErrorRate); + + for (int k=0; k < readBases.length; k++) { + if (GenomeAnalysisEngine.getRandomGenerator().nextDouble() < errorProbability) { + // random offset + int offset = BaseUtils.simpleBaseToBaseIndex(readBases[k]); //0..3 + offset += (GenomeAnalysisEngine.getRandomGenerator().nextInt(3)+1); // adds 1,2 or 3 + offset %= 4; + readBases[k] = BaseUtils.baseIndexToSimpleBase(offset); + + } + + } + + } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/ExactAFCalculationModelUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/ExactAFCalculationModelUnitTest.java index 964d768c4..306dddd65 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/ExactAFCalculationModelUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/ExactAFCalculationModelUnitTest.java @@ -3,6 +3,7 @@ package org.broadinstitute.sting.gatk.walkers.genotyper; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.Genotype; +import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder; import org.broadinstitute.sting.utils.variantcontext.GenotypesContext; import org.testng.Assert; import org.testng.annotations.BeforeSuite; @@ -50,7 +51,7 @@ public class ExactAFCalculationModelUnitTest extends BaseTest { } private static Genotype createGenotype(String name, double[] gls) { - return new Genotype(name, Arrays.asList(Allele.NO_CALL, Allele.NO_CALL), Genotype.NO_LOG10_PERROR, gls); + return new GenotypeBuilder(name, Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)).PL(gls).make(); } @DataProvider(name = "getGLs") diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/GenotypePriorsUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/GenotypePriorsUnitTest.java deleted file mode 100755 index a87f121f6..000000000 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/GenotypePriorsUnitTest.java +++ /dev/null @@ -1,109 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.genotyper; - -import org.testng.Assert; -import org.broadinstitute.sting.BaseTest; -import org.testng.annotations.Test; - - -import static java.lang.Math.log10; - -public class GenotypePriorsUnitTest extends BaseTest { - private final static double DELTA = 1e-8; - - @Test - public void testBasic() { - logger.warn("Executing testIsBetween"); - Assert.assertEquals(DELTA, DiploidSNPGenotypePriors.HUMAN_HETEROZYGOSITY,1e-3); - } - - - // f <- function(h) { print(paste(1-3.0 * h / 2, h, h/2, sep=', '));} - @Test - public void testPriorsFromHet() { - logger.warn("Executing testPriorsFromHet"); - testPriorsFromHet(0.0, 1, 0, 0); - testPriorsFromHet(1e-1, 0.85, 0.1, 0.05); - testPriorsFromHet(1e-2, 0.985, 0.01, 0.005); - testPriorsFromHet(1e-3, 0.9985, 0.001, 5e-04); - testPriorsFromHet(1e-4, 0.99985, 1e-04, 5e-05); - testPriorsFromHet(1e-5, 0.999985, 1e-05, 5e-06); - testPriorsFromHet(0.5, 0.25, 0.5, 0.25); - } - - @Test(expectedExceptions=RuntimeException.class) - public void testPriorsFromHetFail1() { - logger.warn("Executing testPriorsFromHetFail1"); - testPriorsFromHet(1.0, 0, 0, 0); - } - - @Test(expectedExceptions=RuntimeException.class) - public void testPriorsFromHetFail2() { - logger.warn("Executing testPriorsFromHetFail2"); - testPriorsFromHet(-1.0, 0, 0, 0); - } - - private void testPriorsFromHet(double h, double homRef, double het, double homVar) { - double[] vals = DiploidSNPGenotypePriors.heterozygosity2DiploidProbabilities(h); - Assert.assertEquals(vals[0], homRef, DELTA); - Assert.assertEquals(vals[1], het, DELTA); - Assert.assertEquals(vals[2], homVar, DELTA); - Assert.assertEquals(DiploidSNPGenotypePriors.heterozygosity2HomRefProbability(h), homRef, DELTA); - Assert.assertEquals(DiploidSNPGenotypePriors.heterozygosity2HetProbability(h), het, DELTA); - Assert.assertEquals(DiploidSNPGenotypePriors.heterozygosity2HomVarProbability(h), homVar, DELTA); - } - - // - @Test - public void testGenotypePriorsReferenceIndependent() { - logger.warn("Executing testGenotypePriorsReferenceIndependent"); - // AA, AC, AG, AT, CC, CG, CT, GG, GT, TT - double[] array1 = {-0.0705810742857073, -1, -1, -1, -1.301029995663981, -1, -1, -1.301029995663981, -1, -1.301029995663981}; - testGenotypePriors('A', 1e-1, array1); - double[] array2 = {-1.301029995663981, -1, -1, -1, -0.0705810742857073, -1, -1, -1.301029995663981, -1, -1.301029995663981}; - testGenotypePriors('C', 1e-1, array2); - double[] array3 = {-1.301029995663981, -1, -1, -1, -1.301029995663981, -1, -1, -0.0705810742857073, -1, -1.301029995663981}; - testGenotypePriors('G', 1e-1, array3); - double[] array4 = {-1.301029995663981, -1, -1, -1, -1.301029995663981, -1, -1, -1.301029995663981, -1, -0.0705810742857073}; - testGenotypePriors('T', 1e-1, array4); - } - - private void testGenotypePriors(char ref, double h, double[] array) { - for ( DiploidGenotype g : DiploidGenotype.values() ) { - double val = 0.0; - if ( g.isHomRef((byte)ref) ) val = DiploidSNPGenotypePriors.heterozygosity2HomRefProbability(h); - if ( g.isHet() ) val = DiploidSNPGenotypePriors.heterozygosity2HetProbability(h); - if ( g.isHomVar((byte)ref) ) val = DiploidSNPGenotypePriors.heterozygosity2HomVarProbability(h); - - val = log10(val); - double e = array[g.ordinal()]; - Assert.assertEquals(val, e, DELTA, String.format("%s should have p=%f but has p=%f", g, val, e)); - } - } - - @Test - public void testGenotypePriorsReferencePolarized() { - logger.warn("Executing testGenotypePriorsReferencePolarized"); - // AA, AC, AG, AT, CC, CG, CT, GG, GT, TT - double[] array1 = {0.9985, 0.00033333, 0.00033333, 0.00033333, 0.000166666666666667, 3.333333e-09, 3.333333e-09, 0.000166666666666667, 3.33333333333333e-09, 0.000166666666666667}; - logger.warn(" Array 1"); - testPolarizedGenotypePriors('A', 1e-3, 1e-5, array1); - double[] array2 = {0.9985, 0.00033333, 0.00033333, 0.00033333, 0.000166666666666667, 3.333333e-10, 3.333333e-10, 0.000166666666666667, 3.33333333333333e-10, 0.000166666666666667}; - logger.warn(" Array 2"); - testPolarizedGenotypePriors('A', 1e-3, 1e-6, array2); - double[] array3 = {0.985, 0.0033333, 0.0033333, 0.0033333, 0.00166666666666667, 3.333333e-08, 3.333333e-08, 0.00166666666666667, 3.33333333333333e-08, 0.00166666666666667}; - logger.warn(" Array 3"); - testPolarizedGenotypePriors('A', 1e-2, 1e-5, array3); - double[] array4 = {0.99985, 3.33333e-05, 3.33333e-05, 3.33333e-05, 1.66666666666667e-05, 3.33333333333333e-12, 3.33333333333333e-12, 1.66666666666667e-05, 3.33333333333333e-12, 1.66666666666667e-05}; - logger.warn(" Array 4"); - testPolarizedGenotypePriors('A', 1e-4, 1e-6, array4); - } - - private void testPolarizedGenotypePriors(char ref, double h, double pRefError, double[] array) { - DiploidSNPGenotypePriors priors = new DiploidSNPGenotypePriors((byte)ref, h, pRefError); - for ( DiploidGenotype g : DiploidGenotype.values() ) { - double val = Math.pow(10, priors.getPrior(g)); - double e = array[g.ordinal()]; - Assert.assertEquals(val, e, DELTA, String.format("%s should have p=%f but has p=%f", g, val, e)); - } - } -} diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsUnitTest.java index e4c3b8dae..c7ef51d0c 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsUnitTest.java @@ -90,6 +90,21 @@ public class IndelGenotypeLikelihoodsUnitTest extends BaseTest { Assert.assertEquals(alleles.size(),2); alleles = getConsensusAlleles(eventLength,false,10,0.5001, altBases); Assert.assertEquals(alleles.size(),0); + + // test N's in insertions + altBases = "CCTCNTGAGA"; + eventLength = 4; + alleles = getConsensusAlleles(eventLength,true,10,0.1, altBases); + + Assert.assertEquals(alleles.size(),2); + Assert.assertEquals(alleles.get(1).getBaseString(), altBases.substring(0,eventLength)); + + altBases = "CCTCNTGAGA"; + eventLength = 5; + alleles = getConsensusAlleles(eventLength,true,10,0.1, altBases); + + Assert.assertEquals(alleles.size(),0); + } private List getConsensusAlleles(int eventLength, boolean isInsertion, int minCnt, double minFraction, String altBases) { diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIntegrationTest.java index 464dfb06e..f35eb4404 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIntegrationTest.java @@ -7,9 +7,7 @@ import org.testng.annotations.Test; import java.io.File; import java.util.Arrays; -import java.util.HashMap; import java.util.List; -import java.util.Map; // ********************************************************************************** // // Note that this class also serves as an integration test for the VariantAnnotator! // @@ -17,9 +15,9 @@ import java.util.Map; public class UnifiedGenotyperIntegrationTest extends WalkerTest { - private final static String baseCommand = "-T UnifiedGenotyper -R " + b36KGReference + " -nosl -NO_HEADER -glm BOTH -minIndelFrac 0.0 --dbsnp " + b36dbSNP129; - private final static String baseCommandIndels = "-T UnifiedGenotyper -R " + b36KGReference + " -nosl -NO_HEADER -glm INDEL -mbq 20 -minIndelFrac 0.0 --dbsnp " + b36dbSNP129; - private final static String baseCommandIndelsb37 = "-T UnifiedGenotyper -R " + b37KGReference + " -nosl -NO_HEADER -glm INDEL -mbq 20 --dbsnp " + b37dbSNP132; + private final static String baseCommand = "-T UnifiedGenotyper -R " + b36KGReference + " -nosl --no_cmdline_in_header -glm BOTH -minIndelFrac 0.0 --dbsnp " + b36dbSNP129; + private final static String baseCommandIndels = "-T UnifiedGenotyper -R " + b36KGReference + " -nosl --no_cmdline_in_header -glm INDEL -mbq 20 -minIndelFrac 0.0 --dbsnp " + b36dbSNP129; + private final static String baseCommandIndelsb37 = "-T UnifiedGenotyper -R " + b37KGReference + " -nosl --no_cmdline_in_header -glm INDEL -mbq 20 --dbsnp " + b37dbSNP132; // -------------------------------------------------------------------------------------------------------------- // @@ -30,23 +28,23 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { public void testMultiSamplePilot1() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( baseCommand + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10,022,000-10,025,000", 1, - Arrays.asList("9b08dc6800ba11bc6d9f6ccf392a60fe")); + Arrays.asList("0039fd0464c87e6ce66c4c8670fd8dfa")); executeTest("test MultiSample Pilot1", spec); } @Test public void testWithAllelesPassedIn1() { WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( - baseCommand + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + validationDataLocation + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1, - Arrays.asList("ea5b5dcea3a6eef7ec60070b551c994e")); + baseCommand + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1, + Arrays.asList("d1e68d4db6585ec00213b1d2d05e01a9")); executeTest("test MultiSample Pilot2 with alleles passed in", spec1); } @Test public void testWithAllelesPassedIn2() { WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( - baseCommand + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + validationDataLocation + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1, - Arrays.asList("1899bdb956c62bbcbf160b18cd3aea60")); + baseCommand + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1, + Arrays.asList("b53860d209f8440f12b78d01606553e1")); executeTest("test MultiSample Pilot2 with alleles passed in and emitting all sites", spec2); } @@ -54,31 +52,31 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { public void testSingleSamplePilot2() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,100,000", 1, - Arrays.asList("d275e0f75368dbff012ea8655dce3444")); + Arrays.asList("61007c22c00a2871237280914a8f88f0")); executeTest("test SingleSample Pilot2", spec); } @Test public void testMultipleSNPAlleles() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + b37KGReference + " -nosl -NO_HEADER -glm BOTH --dbsnp " + b37dbSNP129 + " -I " + validationDataLocation + "multiallelic.snps.bam -o %s -L " + validationDataLocation + "multiallelic.snps.intervals", 1, - Arrays.asList("ec907c65da5ed9b6046404b0f81422d4")); + "-T UnifiedGenotyper -R " + b37KGReference + " -nosl --no_cmdline_in_header -glm BOTH --dbsnp " + b37dbSNP129 + " -I " + privateTestDir + "multiallelic.snps.bam -o %s -L " + privateTestDir + "multiallelic.snps.intervals", 1, + Arrays.asList("feda4a38bba096f7b740a146055509c2")); executeTest("test Multiple SNP alleles", spec); } @Test public void testBadRead() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + b37KGReference + " -nosl -NO_HEADER -glm BOTH -I " + validationDataLocation + "badRead.test.bam -o %s -L 1:22753424-22753464", 1, - Arrays.asList("7678827a2ee21870a41c09d28d26b996")); + "-T UnifiedGenotyper -R " + b37KGReference + " -nosl --no_cmdline_in_header -glm BOTH -I " + privateTestDir + "badRead.test.bam -o %s -L 1:22753424-22753464", 1, + Arrays.asList("d915535c1458733f09f82670092fcab6")); executeTest("test bad read", spec); } @Test public void testReverseTrim() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + b37KGReference + " -nosl -NO_HEADER -glm INDEL -I " + validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam -o %s -L 20:10289124 -L 20:10090289", 1, - Arrays.asList("a70593bbb5042e2d0e46e3c932cae170")); + "-T UnifiedGenotyper -R " + b37KGReference + " -nosl --no_cmdline_in_header -glm INDEL -I " + validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam -o %s -L 20:10289124 -L 20:10090289", 1, + Arrays.asList("0ff525e65c5836289c454c76ead5d80e")); executeTest("test reverse trim", spec); } @@ -88,7 +86,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { // // -------------------------------------------------------------------------------------------------------------- - private final static String COMPRESSED_OUTPUT_MD5 = "1e3c897794e5763a8720807686707b18"; + private final static String COMPRESSED_OUTPUT_MD5 = "e1a17f8f852c3d639f26e659d37bc1e5"; @Test public void testCompressedOutput() { @@ -109,7 +107,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { // Note that we need to turn off any randomization for this to work, so no downsampling and no annotations - String md5 = "06d11ed89f02f08911e100df0f7db7a4"; + String md5 = "306943dd63111e2e64388cd2e2de6c01"; WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( baseCommand + " -dt NONE -G none -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,075,000", 1, @@ -141,15 +139,15 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { public void testMinBaseQualityScore() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 --min_base_quality_score 26", 1, - Arrays.asList("258c1b33349eb3b2d395ec4d69302725")); + Arrays.asList("b0b92abbaaa4c787dce6f1b302f983ee")); executeTest("test min_base_quality_score 26", spec); } @Test public void testSLOD() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + b36KGReference + " -NO_HEADER -glm BOTH --dbsnp " + b36dbSNP129 + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000", 1, - Arrays.asList("e9d23a08472e4e27b4f25e844f5bad57")); + "-T UnifiedGenotyper -R " + b36KGReference + " --no_cmdline_in_header -glm BOTH --dbsnp " + b36dbSNP129 + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000", 1, + Arrays.asList("186d33429756c89aad6cd89424d6dc94")); executeTest("test SLOD", spec); } @@ -157,38 +155,45 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { public void testNDA() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( baseCommand + " --annotateNDA -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000", 1, - Arrays.asList("443b2f8882393c4c65277c34cdb6060c")); + Arrays.asList("11b87f68b8530da168c1418513115f30")); executeTest("test NDA", spec); } @Test public void testCompTrack() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + b36KGReference + " -NO_HEADER -glm BOTH -comp:FOO " + b36dbSNP129 + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000", 1, - Arrays.asList("71251d8893649ea9abd5d9aa65739ba1")); + "-T UnifiedGenotyper -R " + b36KGReference + " --no_cmdline_in_header -glm BOTH -comp:FOO " + b36dbSNP129 + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000", 1, + Arrays.asList("d2be4b1af1f29579c4f96c08e1ddd871")); executeTest("test using comp track", spec); } @Test - public void testOutputParameter() { - HashMap e = new HashMap(); - e.put( "-sites_only", "44f3b5b40e6ad44486cddfdb7e0bfcd8" ); - e.put( "--output_mode EMIT_ALL_CONFIDENT_SITES", "ecf92054c1e4bd9d6529b8002d385165" ); - e.put( "--output_mode EMIT_ALL_SITES", "e10819a2a7960254e27ed2b958b45d56" ); + public void testOutputParameterSitesOnly() { + testOutputParameters("-sites_only", "0055bd060e6ef53a6b836903d68953c9"); + } - for ( Map.Entry entry : e.entrySet() ) { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 " + entry.getKey(), 1, - Arrays.asList(entry.getValue())); - executeTest(String.format("testParameter[%s]", entry.getKey()), spec); - } + @Test + public void testOutputParameterAllConfident() { + testOutputParameters("--output_mode EMIT_ALL_CONFIDENT_SITES", "235bec0a7b2d901442261104db18f5eb"); + } + + @Test + public void testOutputParameterAllSites() { + testOutputParameters("--output_mode EMIT_ALL_SITES", "7c57ede7019063c19aa9d2136045d84f"); + } + + private void testOutputParameters(final String args, final String md5) { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 " + args, 1, + Arrays.asList(md5)); + executeTest(String.format("testParameter[%s]", args), spec); } @Test public void testConfidence() { WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 -stand_call_conf 10 ", 1, - Arrays.asList("902327e8a45fe585c8dfd1a7c4fcf60f")); + Arrays.asList("3f8d724a5158adac4df38c4e2ed04167")); executeTest("test confidence 1", spec1); } @@ -196,7 +201,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { public void testConfidence2() { WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 -stand_emit_conf 10 ", 1, - Arrays.asList("2343ac8113791f4e79643b333b34afc8")); + Arrays.asList("3f8d724a5158adac4df38c4e2ed04167")); executeTest("test confidence 2", spec2); } @@ -206,17 +211,20 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { // // -------------------------------------------------------------------------------------------------------------- @Test - public void testHeterozyosity() { - HashMap e = new HashMap(); - e.put( 0.01, "d07e5ca757fbcb1c03f652f82265c2f8" ); - e.put( 1.0 / 1850, "d1fb9186e6f39f2bcf5d0edacd8f7fe2" ); + public void testHeterozyosity1() { + testHeterozosity( 0.01, "7e7384a3a52e19f76f368c2f4561d510" ); + } - for ( Map.Entry entry : e.entrySet() ) { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,100,000 --heterozygosity " + entry.getKey(), 1, - Arrays.asList(entry.getValue())); - executeTest(String.format("test heterozyosity[%s]", entry.getKey()), spec); - } + @Test + public void testHeterozyosity2() { + testHeterozosity( 1.0 / 1850, "3d16366d870c086e894c07c9da411795" ); + } + + private void testHeterozosity(final double arg, final String md5) { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,100,000 --heterozygosity " + arg, 1, + Arrays.asList(md5)); + executeTest(String.format("test heterozyosity[%s]", arg), spec); } @@ -233,7 +241,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { " -o %s" + " -L 1:10,000,000-10,100,000", 1, - Arrays.asList("623be1fd8b63a01bfe35ac864d5199fe")); + Arrays.asList("58abc4f504d3afd42271e290ac846c4b")); executeTest(String.format("test multiple technologies"), spec); } @@ -252,7 +260,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { " -L 1:10,000,000-10,100,000" + " -baq CALCULATE_AS_NECESSARY", 1, - Arrays.asList("40ea10c0238c3be2991d31ae72476884")); + Arrays.asList("e247f579f01eb698cfa1ae1e8a3995a8")); executeTest(String.format("test calling with BAQ"), spec); } @@ -271,7 +279,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { " -o %s" + " -L 1:10,000,000-10,500,000", 1, - Arrays.asList("c9b0bd900a4ec949adfbd28909581eeb")); + Arrays.asList("cc2167dce156f70f5a31ac3dce499266")); executeTest(String.format("test indel caller in SLX"), spec); } @@ -286,7 +294,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { " -minIndelCnt 1" + " -L 1:10,000,000-10,100,000", 1, - Arrays.asList("6b7c8691c527facf9884c2517d943f2f")); + Arrays.asList("1268bde77842e6bb6a4f337c1d589f4d")); executeTest(String.format("test indel caller in SLX with low min allele count"), spec); } @@ -299,7 +307,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { " -o %s" + " -L 1:10,000,000-10,500,000", 1, - Arrays.asList("d72603aa33a086d64d4dddfd2995552f")); + Arrays.asList("10c86ff98ad5ab800d208b435bcfbd7d")); executeTest(String.format("test indel calling, multiple technologies"), spec); } @@ -307,9 +315,9 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { @Test public void testWithIndelAllelesPassedIn1() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + validationDataLocation + "indelAllelesForUG.vcf -I " + validationDataLocation + + baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "indelAllelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1, - Arrays.asList("4a59fe207949b7d043481d7c1b786573")); + Arrays.asList("c0c4dbb050296633a3150b104b77e05a")); executeTest("test MultiSample Pilot2 indels with alleles passed in", spec); } @@ -317,23 +325,23 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { public void testWithIndelAllelesPassedIn2() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( baseCommandIndels + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " - + validationDataLocation + "indelAllelesForUG.vcf -I " + validationDataLocation + + + privateTestDir + "indelAllelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1, - Arrays.asList("a8a9ccf30bddee94bb1d300600794ee7")); + Arrays.asList("2472722f87f8718861698f60bbba2462")); executeTest("test MultiSample Pilot2 indels with alleles passed in and emitting all sites", spec); } @Test - public void testMultiSampleIndels() { + public void testMultiSampleIndels1() { WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( baseCommandIndels + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10450700-10551000", 1, - Arrays.asList("99e278baa2367b2bb016e2f37139d12f")); + Arrays.asList("eeb64b261f0a44aa478d753dbbf9378e")); List result = executeTest("test MultiSample Pilot1 CEU indels", spec1).getFirst(); WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + result.get(0).getAbsolutePath() + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10450700-10551000", 1, - Arrays.asList("c43ac445130161b8250bfbdc6c67782a")); + Arrays.asList("d0a66c234056bb83dd84113bc2421f1e")); executeTest("test MultiSample Pilot1 CEU indels using GENOTYPE_GIVEN_ALLELES", spec2); } @@ -341,9 +349,9 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { public void testGGAwithNoEvidenceInReads() { final String vcf = "small.indel.test.vcf"; WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommandIndelsb37 + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles " + validationDataLocation + vcf + " -I " + validationDataLocation + + baseCommandIndelsb37 + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles " + privateTestDir + vcf + " -I " + validationDataLocation + "NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.20.bam -o %s -L " + validationDataLocation + vcf, 1, - Arrays.asList("7d069596597aee5e0d562964036141eb")); + Arrays.asList("db0f91abb901e097714d8755058e1319")); executeTest("test GENOTYPE_GIVEN_ALLELES with no evidence in reads", spec); } @@ -376,7 +384,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { public void testMinIndelFraction0() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( assessMinIndelFraction + " -minIndelFrac 0.0", 1, - Arrays.asList("973178b97efd2daacc9e45c414275d59")); + Arrays.asList("160600dfa8e46f91dbb5d574517aac74")); executeTest("test minIndelFraction 0.0", spec); } @@ -384,7 +392,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { public void testMinIndelFraction25() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( assessMinIndelFraction + " -minIndelFrac 0.25", 1, - Arrays.asList("220facd2eb0923515d1d8ab874055564")); + Arrays.asList("aa58dc9f77132c30363562bcdc321f6e")); executeTest("test minIndelFraction 0.25", spec); } @@ -392,7 +400,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { public void testMinIndelFraction100() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( assessMinIndelFraction + " -minIndelFrac 1", 1, - Arrays.asList("50fe9a4c5633f6395b45d9ec1e00d56a")); + Arrays.asList("3f07efb768e08650a7ce333edd4f9a52")); executeTest("test minIndelFraction 1.0", spec); } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/indels/IndelRealignerIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/indels/IndelRealignerIntegrationTest.java index 0ff6fc244..040845828 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/indels/IndelRealignerIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/indels/IndelRealignerIntegrationTest.java @@ -9,13 +9,13 @@ import java.util.Map; public class IndelRealignerIntegrationTest extends WalkerTest { - private static final String mainTestBam = validationDataLocation + "indelRealignerTest.pilot1.ceu.fixed.bam"; + private static final String mainTestBam = validationDataLocation + "indelRealignerTest.pilot1.ceu.fixed.fixmates.bam"; private static final String mainTestIntervals = validationDataLocation + "indelRealignerTest.pilot1.ceu.intervals"; private static final String knownIndels = validationDataLocation + "indelRealignerTest.pilot1.ceu.vcf"; private static final String baseCommandPrefix = "-T IndelRealigner -noPG -R " + b36KGReference + " -I " + mainTestBam + " -targetIntervals " + mainTestIntervals + " -compress 0 -L 20:49,500-55,500 "; private static final String baseCommand = baseCommandPrefix + "-o %s "; - private static final String base_md5 = "e041186bca9dccf360747c89be8417ad"; - private static final String base_md5_with_SW_or_VCF = "d7c7acd346ee4c8d34f1e2499ff7c313"; + private static final String base_md5 = "7574ab7d0b1ee5d44a0b3f85b6e944e6"; + private static final String base_md5_with_SW_or_VCF = "a918d69d26d3c87b29002ed31f428c48"; @Test public void testDefaults() { @@ -38,7 +38,7 @@ public class IndelRealignerIntegrationTest extends WalkerTest { WalkerTestSpec spec1 = new WalkerTestSpec( baseCommand + "--consensusDeterminationModel KNOWNS_ONLY -known " + knownIndels, 1, - Arrays.asList("3dd5d2c9931b375455af0bff1a2c4888")); + Arrays.asList("36718f10d523dfb0fa2a709480f24bd4")); executeTest("realigner known indels only from VCF", spec1); } @@ -55,7 +55,7 @@ public class IndelRealignerIntegrationTest extends WalkerTest { public void testLods() { HashMap e = new HashMap(); e.put( "-LOD 60", base_md5 ); - e.put( "-LOD 1 --consensusDeterminationModel USE_SW", "f158f18198cf48bbb3d4f1b7127928a3" ); + e.put( "-LOD 1 --consensusDeterminationModel USE_SW", "9a75a0f7ad0442c78d0f8df260e733a4" ); for ( Map.Entry entry : e.entrySet() ) { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( @@ -71,7 +71,7 @@ public class IndelRealignerIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( "-T IndelRealigner -noPG -R " + b36KGReference + " -I " + validationDataLocation + "NA12878.chrom1.SLX.SRP000032.2009_06.bam -L 1:10,000,000-11,000,000 -targetIntervals " + validationDataLocation + "indelRealignerTest.NA12878.chrom1.intervals -compress 0 -o %s", 1, - Arrays.asList("fe39c007d287d372a8137d11c60fbc50")); + Arrays.asList("e98f51d71f0a82141b36a7e9f94db237")); executeTest("realigner long run", spec); } @@ -80,7 +80,7 @@ public class IndelRealignerIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( baseCommand + "--noOriginalAlignmentTags --consensusDeterminationModel USE_SW", 1, - Arrays.asList("e77e59cc6363cf58f392ce5ea8d7e0b6")); + Arrays.asList("58ac675d0699eb236d469b8e84513d11")); executeTest("realigner no output tags", spec); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreatorIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreatorIntegrationTest.java index 5c0123769..e6468e261 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreatorIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreatorIntegrationTest.java @@ -44,7 +44,7 @@ public class RealignerTargetCreatorIntegrationTest extends WalkerTest { @Test public void testKnownsOnly() { WalkerTest.WalkerTestSpec spec3 = new WalkerTest.WalkerTestSpec( - "-T RealignerTargetCreator -R " + b36KGReference + " --known " + validationDataLocation + "NA12878.chr1_10mb_11mb.slx.indels.vcf4 -L " + validationDataLocation + "NA12878.chr1_10mb_11mb.slx.indels.vcf4 -o %s", + "-T RealignerTargetCreator -R " + b36KGReference + " --known " + privateTestDir + "NA12878.chr1_10mb_11mb.slx.indels.vcf4 -L " + privateTestDir + "NA12878.chr1_10mb_11mb.slx.indels.vcf4 -o %s", 1, Arrays.asList("5206cee6c01b299417bf2feeb8b3dc96")); executeTest("test rods only", spec3); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmissionIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmissionIntegrationTest.java index 48be3264f..9b0fbf650 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmissionIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmissionIntegrationTest.java @@ -6,7 +6,7 @@ import org.testng.annotations.Test; import java.util.Arrays; public class PhaseByTransmissionIntegrationTest extends WalkerTest { - private static String phaseByTransmissionTestDataRoot = validationDataLocation + "PhaseByTransmission/"; + private static String phaseByTransmissionTestDataRoot = privateTestDir + "PhaseByTransmission/"; private static String goodFamilyFile = phaseByTransmissionTestDataRoot + "PhaseByTransmission.IntegrationTest.goodFamilies.ped"; private static String TNTest = phaseByTransmissionTestDataRoot + "PhaseByTransmission.IntegrationTest.TN.vcf"; private static String TPTest = phaseByTransmissionTestDataRoot + "PhaseByTransmission.IntegrationTest.TP.vcf"; @@ -20,7 +20,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( buildCommandLine( "-T PhaseByTransmission", - "-NO_HEADER", + "--no_cmdline_in_header", "-R " + b37KGReference, "--variant " + TNTest, "-ped "+ goodFamilyFile, @@ -29,7 +29,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { "-o %s" ), 2, - Arrays.asList("d54a142d68dca54e478c13f9a0e4c95c","1a37fcc93a73429f9065b942ab771233") + Arrays.asList("f4b0b5471e03306ee2fad27d88b217b6","f8721f4f5d3bae2848ae15c3f120709b") ); executeTest("testTrueNegativeMV", spec); } @@ -39,7 +39,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( buildCommandLine( "-T PhaseByTransmission", - "-NO_HEADER", + "--no_cmdline_in_header", "-R " + b37KGReference, "--variant " + TPTest, "-ped "+ goodFamilyFile, @@ -48,7 +48,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { "-o %s" ), 2, - Arrays.asList("883ea7fd2b200c4b7fa95a4f7aa15931","7b1f5309c3d4f4aa7e9061f288dceb68") + Arrays.asList("dbc64776dcc9e01a468b61e4e0db8277","547fdfef393f3045a96d245ef6af8acb") ); executeTest("testTruePositiveMV", spec); } @@ -58,7 +58,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( buildCommandLine( "-T PhaseByTransmission", - "-NO_HEADER", + "--no_cmdline_in_header", "-R " + b37KGReference, "--variant " + FPTest, "-ped "+ goodFamilyFile, @@ -67,7 +67,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { "-o %s" ), 2, - Arrays.asList("e812d62a3449b74b6948ee7deb8a0790","d00922496759e84c66a4b5e222e36997") + Arrays.asList("37793e78861bb0bc070884da67dc10e6","9529e2bf214d72e792d93fbea22a3b91") ); executeTest("testFalsePositiveMV", spec); } @@ -77,7 +77,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( buildCommandLine( "-T PhaseByTransmission", - "-NO_HEADER", + "--no_cmdline_in_header", "-R " + b37KGReference, "--variant " + SpecialTest, "-ped "+ goodFamilyFile, @@ -86,7 +86,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { "-o %s" ), 2, - Arrays.asList("e3c572f933a40e1878a2cfa52049517a","60e4f0be344fb944ab3378f9ab27da64") + Arrays.asList("e4da7639bb542d6440975da12b94973f","8c157d79dd00063d2932f0d2b96f53d8") ); executeTest("testSpecialCases", spec); } @@ -98,7 +98,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( buildCommandLine( "-T PhaseByTransmission", - "-NO_HEADER", + "--no_cmdline_in_header", "-R " + b37KGReference, "--variant " + FPTest, "-ped "+ goodFamilyFile, @@ -108,7 +108,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { "-o %s" ), 2, - Arrays.asList("b42af3b73a2cb38cfc92f8047dd686b3","a69c3f9c005e852b44c29ab25e87ba0d") + Arrays.asList("ab92b714471a000285577d540e1fdc2e","343e418850ae4a687ebef2acd55fcb07") ); executeTest("testPriorOption", spec); } @@ -120,7 +120,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( buildCommandLine( "-T PhaseByTransmission", - "-NO_HEADER", + "--no_cmdline_in_header", "-R " + b37KGReference, "--variant " + FPTest, "-ped "+ goodFamilyFile, @@ -128,7 +128,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("d00922496759e84c66a4b5e222e36997") + Arrays.asList("9529e2bf214d72e792d93fbea22a3b91") ); executeTest("testMVFileOption", spec); } @@ -139,7 +139,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( buildCommandLine( "-T PhaseByTransmission", - "-NO_HEADER", + "--no_cmdline_in_header", "-R " + b37KGReference, "--variant " + TPTest, "-ped "+ goodFamilyFile, @@ -149,7 +149,7 @@ public class PhaseByTransmissionIntegrationTest extends WalkerTest { "-fatherAlleleFirst" ), 2, - Arrays.asList("c158a3816357597543ef85c4478c41e8","4f8daca19c8f31bd87850c124f91e330") + Arrays.asList("4b937c1b4e96602a7479b07b59254d06","52ffa82428e63ade22ea37b72ae58492") ); executeTest("testFatherAlleleFirst", spec); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasingIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasingIntegrationTest.java index b78e76e07..11f1a0628 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasingIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasingIntegrationTest.java @@ -11,12 +11,12 @@ public class ReadBackedPhasingIntegrationTest extends WalkerTest { return "-T ReadBackedPhasing" + " -R " + reference + " -I " + validationDataLocation + reads + - " --variant " + validationDataLocation + VCF + + " --variant " + ( VCF.contains("phasing_test") ? privateTestDir : validationDataLocation) + VCF + " --cacheWindowSize " + cacheWindowSize + " --maxPhaseSites " + maxPhaseSites + " --phaseQualityThresh " + phaseQualityThresh + " -o %s" + - " -NO_HEADER"; + " --no_cmdline_in_header"; } @@ -26,7 +26,7 @@ public class ReadBackedPhasingIntegrationTest extends WalkerTest { baseTestString(hg18Reference, "phasing_test_chr20_332341_1332503.bam", "phasing_test_chr20_332341_1332503.vcf", 20000, 10, 10) + " -L chr20:332341-382503", 1, - Arrays.asList("9568ba0b6624b97ac55a59bdee2d9150")); + Arrays.asList("1c9a7fe4db41864cd85d16e5cf88986c")); executeTest("MAX 10 het sites [TEST ONE]; require PQ >= 10", spec); } @@ -36,7 +36,7 @@ public class ReadBackedPhasingIntegrationTest extends WalkerTest { baseTestString(hg18Reference, "phasing_test_chr20_332341_1332503.bam", "phasing_test_chr20_332341_1332503.vcf", 20000, 10, 10) + " -L chr20:1232503-1332503", 1, - Arrays.asList("ce65194c24fe83b0ec90faa6c8e6109a")); + Arrays.asList("a3ca151145379e0d4bae64a91165ea0b")); executeTest("MAX 10 het sites [TEST TWO]; require PQ >= 10", spec); } @@ -46,7 +46,7 @@ public class ReadBackedPhasingIntegrationTest extends WalkerTest { baseTestString(hg18Reference, "phasing_test_chr20_332341_1332503.bam", "phasing_test_chr20_332341_1332503.vcf", 20000, 2, 30) + " -L chr20:332341-382503", 1, - Arrays.asList("02d134fd544613b1e5dd7f7197fc3753")); + Arrays.asList("f685803333123a102ce1851d984cbd10")); executeTest("MAX 2 het sites [TEST THREE]; require PQ >= 30", spec); } @@ -56,7 +56,7 @@ public class ReadBackedPhasingIntegrationTest extends WalkerTest { baseTestString(hg18Reference, "phasing_test_chr20_332341_1332503.bam", "phasing_test_chr20_332341_1332503.vcf", 20000, 5, 100) + " -L chr20:332341-382503", 1, - Arrays.asList("2f7ec9904fc054c2ba1a7db05eb29334")); + Arrays.asList("aaa7c25d118383639f273128d241e140")); executeTest("MAX 5 het sites [TEST FOUR]; require PQ >= 100", spec); } @@ -66,7 +66,7 @@ public class ReadBackedPhasingIntegrationTest extends WalkerTest { baseTestString(hg18Reference, "phasing_test_chr20_332341_1332503.bam", "phasing_test_chr20_332341_1332503.vcf", 1000, 7, 10) + " -L chr20:332341-482503", 1, - Arrays.asList("da7a31725f229d1782dd3049848730aa")); + Arrays.asList("418e29400762972e77bae4f73e16befe")); executeTest("MAX 7 het sites [TEST FIVE]; require PQ >= 10; cacheWindow = 1000", spec); } @@ -76,7 +76,7 @@ public class ReadBackedPhasingIntegrationTest extends WalkerTest { baseTestString(hg18Reference, "phasing_test_chr20_332341_1332503.bam", "phasing_test_chr20_332341_1332503.vcf", 20000, 10, 10) + " -L chr20:652810-681757", 1, - Arrays.asList("e9d35cb88089fb0e8ae6678bfaeeac8c")); + Arrays.asList("4c8f6190ecc86766baba3aba08542991")); executeTest("MAX 10 het sites [TEST SIX]; require PQ >= 10; cacheWindow = 20000; has inconsistent sites", spec); } @@ -86,7 +86,7 @@ public class ReadBackedPhasingIntegrationTest extends WalkerTest { baseTestString(hg18Reference, "phasing_test_chr20_332341_1332503.bam", "CEU.trio.2010_03.genotypes.hg18.vcf", 20000, 10, 10) + " -L chr20:332341-802503", 1, - Arrays.asList("c37548b333b65f58d0edfc5c2a62a28a")); + Arrays.asList("44eb225ab3167651ec0a9e1fdcc83d34")); executeTest("Use trio-phased VCF, but ignore its phasing [TEST SEVEN]", spec); } @@ -96,7 +96,7 @@ public class ReadBackedPhasingIntegrationTest extends WalkerTest { baseTestString(hg18Reference, "phasing_test_chr20_332341_1332503.bam", "CEU.trio.2010_03.genotypes.hg18.vcf", 20000, 10, 10) + " -L chr20:332341-802503" + " -respectPhaseInInput", 1, - Arrays.asList("dfc7cdddd702e63d46d04f61a3ecd720")); + Arrays.asList("e3549b89d49092e73cc6eb21f233471c")); executeTest("Use trio-phased VCF, and respect its phasing [TEST EIGHT]", spec); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/recalibration/RecalibrationWalkersIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/recalibration/RecalibrationWalkersIntegrationTest.java deleted file mode 100755 index b53daaf39..000000000 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/recalibration/RecalibrationWalkersIntegrationTest.java +++ /dev/null @@ -1,368 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.WalkerTest; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.testng.annotations.DataProvider; -import org.testng.annotations.Test; - -import java.io.File; -import java.util.Arrays; -import java.util.HashMap; -import java.util.List; -import java.util.Map; - -public class RecalibrationWalkersIntegrationTest extends WalkerTest { - static HashMap paramsFiles = new HashMap(); - static HashMap paramsFilesSolidIndels = new HashMap(); - - private static final class CCTest extends TestDataProvider { - String file, md5; - - private CCTest(final String file, final String md5) { - super(CCTest.class); - this.file = file; - this.md5 = md5; - } - - public String toString() { - return "CCTest: " + file; - } - } - - @DataProvider(name = "cctestdata") - public Object[][] createCCTestData() { - - new CCTest( validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.bam", "ab4940a16ab990181bd8368c76b23853" ); - new CCTest( validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "17d4b8001c982a70185e344929cf3941"); - new CCTest( validationDataLocation + "NA12873.454.SRP000031.2009_06.chr1.10_20mb.bam", "714e65d6cb51ae32221a77ce84cbbcdc" ); - new CCTest( validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.allTechs.bam", "932f0063abb2a23c22ec992ef8d36aa5" ); - return CCTest.getTests(CCTest.class); - } - - @Test(dataProvider = "cctestdata") - public void testCountCovariates1(CCTest test) { - testCC(test, ""); - } - - @Test(dataProvider = "cctestdata") - public void testCountCovariates4(CCTest test) { - testCC(test, " -nt 4"); - } - - private final void testCC(CCTest test, String parallelism) { - String bam = test.file; - String md5 = test.md5; - - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-R " + b36KGReference + - " -knownSites " + b36dbSNP129 + - " -T CountCovariates" + - " -I " + bam + - ( bam.equals( validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.allTechs.bam" ) - ? " -L 1:10,800,000-10,810,000" : " -L 1:10,000,000-10,200,000" ) + - " -cov ReadGroupCovariate" + - " -cov QualityScoreCovariate" + - " -cov CycleCovariate" + - " -cov DinucCovariate" + - " --solid_recal_mode SET_Q_ZERO" + - " -recalFile %s" + parallelism, - 1, // just one output file - Arrays.asList(md5)); - List result = executeTest("testCountCovariates1" + parallelism, spec).getFirst(); - paramsFiles.put(bam, result.get(0).getAbsolutePath()); - } - - - private static final class TRTest extends TestDataProvider { - String file, md5; - - private TRTest(final String file, final String md5) { - super(TRTest.class); - this.file = file; - this.md5 = md5; - } - - public String toString() { - return "TRTest: " + file; - } - } - - @DataProvider(name = "trtestdata") - public Object[][] createTRTestData() { - new TRTest( validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.bam", "0b7123ae9f4155484b68e4a4f96c5504" ); - new TRTest( validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "d04cf1f6df486e45226ebfbf93a188a5"); - new TRTest( validationDataLocation + "NA12873.454.SRP000031.2009_06.chr1.10_20mb.bam", "74314e5562c1a65547bb0edaacffe602" ); - new TRTest( validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.allTechs.bam", "41c2f82f7789421f3690ed3c35b8f2e4" ); - - return TRTest.getTests(TRTest.class); - } - - @Test(dataProvider = "trtestdata", dependsOnMethods = "testCountCovariates1") - public void testTableRecalibrator1(TRTest test) { - String bam = test.file; - String md5 = test.md5; - String paramsFile = paramsFiles.get(bam); - System.out.printf("PARAMS FOR %s is %s%n", bam, paramsFile); - if ( paramsFile != null ) { - WalkerTestSpec spec = new WalkerTestSpec( - "-R " + b36KGReference + - " -T TableRecalibration" + - " -I " + bam + - ( bam.equals( validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.allTechs.bam" ) - ? " -L 1:10,800,000-10,810,000" : " -L 1:10,100,000-10,300,000" ) + - " -o %s" + - " --no_pg_tag" + - " --solid_recal_mode SET_Q_ZERO" + - " -recalFile " + paramsFile, - 1, // just one output file - Arrays.asList(md5)); - executeTest("testTableRecalibrator1", spec); - } - else { - throw new IllegalStateException("testTableRecalibrator1: paramsFile was null"); - } - } - - @Test - public void testCountCovariatesUseOriginalQuals() { - HashMap e = new HashMap(); - e.put( validationDataLocation + "originalQuals.1kg.chr1.1-1K.bam", "0b88d0e8c97e83bdeee2064b6730abff"); - - for ( Map.Entry entry : e.entrySet() ) { - String bam = entry.getKey(); - String md5 = entry.getValue(); - - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-R " + b36KGReference + - " -T CountCovariates" + - " -I " + bam + - " -L 1:1-1,000" + - " -standard" + - " -OQ" + - " -recalFile %s" + - " -knownSites " + b36dbSNP129, - 1, // just one output file - Arrays.asList(md5)); - executeTest("testCountCovariatesUseOriginalQuals", spec); - } - } - - @Test(dependsOnMethods = "testCountCovariates1") - public void testTableRecalibratorMaxQ70() { - HashMap e = new HashMap(); - e.put( validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.bam", "0b7123ae9f4155484b68e4a4f96c5504" ); - - for ( Map.Entry entry : e.entrySet() ) { - String bam = entry.getKey(); - String md5 = entry.getValue(); - String paramsFile = paramsFiles.get(bam); - System.out.printf("PARAMS FOR %s is %s%n", bam, paramsFile); - if ( paramsFile != null ) { - WalkerTestSpec spec = new WalkerTestSpec( - "-R " + b36KGReference + - " -T TableRecalibration" + - " -I " + bam + - ( bam.equals( validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.allTechs.bam" ) - ? " -L 1:10,800,000-10,810,000" : " -L 1:10,100,000-10,300,000" ) + - " -o %s" + - " --no_pg_tag" + - " -maxQ 70" + - " --solid_recal_mode SET_Q_ZERO" + - " -recalFile " + paramsFile, - 1, // just one output file - Arrays.asList(md5)); - executeTest("testTableRecalibratorMaxQ70", spec); - } - else { - throw new IllegalStateException("testTableRecalibratorMaxQ70: paramsFile was null"); - } - } - } - - @Test - public void testCountCovariatesSolidIndelsRemoveRefBias() { - HashMap e = new HashMap(); - e.put( validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "8379f24cf5312587a1f92c162ecc220f" ); - - for ( Map.Entry entry : e.entrySet() ) { - String bam = entry.getKey(); - String md5 = entry.getValue(); - - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-R " + b36KGReference + - " -knownSites " + b36dbSNP129 + - " -T CountCovariates" + - " -I " + bam + - " -standard" + - " -U" + - " -L 1:10,000,000-20,000,000" + - " --solid_recal_mode REMOVE_REF_BIAS" + - " -recalFile %s", - 1, // just one output file - Arrays.asList(md5)); - List result = executeTest("testCountCovariatesSolidIndelsRemoveRefBias", spec).getFirst(); - paramsFilesSolidIndels.put(bam, result.get(0).getAbsolutePath()); - } - } - - @Test(dependsOnMethods = "testCountCovariatesSolidIndelsRemoveRefBias") - public void testTableRecalibratorSolidIndelsRemoveRefBias() { - HashMap e = new HashMap(); - e.put( validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "2ad4c17ac3ed380071137e4e53a398a5" ); - - for ( Map.Entry entry : e.entrySet() ) { - String bam = entry.getKey(); - String md5 = entry.getValue(); - String paramsFile = paramsFilesSolidIndels.get(bam); - System.out.printf("PARAMS FOR %s is %s%n", bam, paramsFile); - if ( paramsFile != null ) { - WalkerTestSpec spec = new WalkerTestSpec( - "-R " + b36KGReference + - " -T TableRecalibration" + - " -I " + bam + - " -o %s" + - " --no_pg_tag" + - " -U" + - " -L 1:10,000,000-20,000,000" + - " --solid_recal_mode REMOVE_REF_BIAS" + - " -recalFile " + paramsFile, - 1, // just one output file - Arrays.asList(md5)); - executeTest("testTableRecalibratorSolidIndelsRemoveRefBias", spec); - } - else { - throw new IllegalStateException("testTableRecalibratorSolidIndelsRemoveRefBias: paramsFile was null"); - } - } - } - - @Test - public void testCountCovariatesBED() { - HashMap e = new HashMap(); - e.put( validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.bam", "7e973328751d233653530245d404a64d"); - - for ( Map.Entry entry : e.entrySet() ) { - String bam = entry.getKey(); - String md5 = entry.getValue(); - - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-R " + b36KGReference + - " -knownSites:bed " + validationDataLocation + "recalibrationTest.bed" + - " -T CountCovariates" + - " -I " + bam + - " -L 1:10,000,000-10,200,000" + - " -standard" + - " --solid_recal_mode SET_Q_ZERO" + - " -recalFile %s", - 1, // just one output file - Arrays.asList(md5)); - executeTest("testCountCovariatesBED", spec); - } - } - - @Test - public void testCountCovariatesVCFPlusDBsnp() { - HashMap e = new HashMap(); - e.put( validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.bam", "fd9e37879069aa6d84436c25e472b9e9"); - - for ( Map.Entry entry : e.entrySet() ) { - String bam = entry.getKey(); - String md5 = entry.getValue(); - - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-R " + b36KGReference + - " -knownSites:anyNameABCD,VCF3 " + validationDataLocation + "vcfexample3.vcf" + - " -T CountCovariates" + - " -I " + bam + - " -knownSites " + b36dbSNP129 + - " -L 1:10,000,000-10,200,000" + - " -cov ReadGroupCovariate" + - " -cov QualityScoreCovariate" + - " -cov CycleCovariate" + - " -cov DinucCovariate" + - " --solid_recal_mode SET_Q_ZERO" + - " -recalFile %s", - 1, // just one output file - Arrays.asList(md5)); - executeTest("testCountCovariatesVCFPlusDBsnp", spec); - } - } - - @Test - public void testCountCovariatesNoIndex() { - HashMap e = new HashMap(); - e.put( validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.allTechs.noindex.bam", "aac7df368ca589dc0a66d5bd9ad007e3" ); - - for ( Map.Entry entry : e.entrySet() ) { - String bam = entry.getKey(); - String md5 = entry.getValue(); - - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-R " + b36KGReference + - " -knownSites " + b36dbSNP129 + - " -T CountCovariates" + - " -I " + bam + - " -cov ReadGroupCovariate" + - " -cov QualityScoreCovariate" + - " --solid_recal_mode DO_NOTHING" + - " -recalFile %s" + - " -U", - 1, // just one output file - Arrays.asList(md5)); - List result = executeTest("testCountCovariatesNoIndex", spec).getFirst(); - paramsFiles.put(bam, result.get(0).getAbsolutePath()); - } - } - - @Test(dependsOnMethods = "testCountCovariatesNoIndex") - public void testTableRecalibratorNoIndex() { - HashMap e = new HashMap(); - e.put( validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.allTechs.noindex.bam", "02249d9933481052df75c58a2a1a8e63" ); - - for ( Map.Entry entry : e.entrySet() ) { - String bam = entry.getKey(); - String md5 = entry.getValue(); - String paramsFile = paramsFiles.get(bam); - System.out.printf("PARAMS FOR %s is %s%n", bam, paramsFile); - if ( paramsFile != null ) { - WalkerTestSpec spec = new WalkerTestSpec( - "-R " + b36KGReference + - " -T TableRecalibration" + - " -I " + bam + - " -o %s" + - " --no_pg_tag" + - " --solid_recal_mode DO_NOTHING" + - " -recalFile " + paramsFile + - " -U", - 1, // just one output file - Arrays.asList(md5)); - executeTest("testTableRecalibratorNoIndex", spec); - } - else { - throw new IllegalStateException("testTableRecalibratorNoIndex: paramsFile was null"); - } - } - } - - @Test - public void testCountCovariatesFailWithoutDBSNP() { - HashMap e = new HashMap(); - e.put( validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.bam", ""); - - for ( Map.Entry entry : e.entrySet() ) { - String bam = entry.getKey(); - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-R " + b36KGReference + - " -T CountCovariates" + - " -I " + bam + - " -L 1:10,000,000-10,200,000" + - " -standard" + - " --solid_recal_mode SET_Q_ZERO" + - " -recalFile %s", - 1, // just one output file - UserException.CommandLineException.class); - executeTest("testCountCovariatesFailWithoutDBSNP", spec); - } - } - -} diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/recalibration/RecalibrationWalkersLargeScaleTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/recalibration/RecalibrationWalkersLargeScaleTest.java deleted file mode 100755 index 3f956e3b9..000000000 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/recalibration/RecalibrationWalkersLargeScaleTest.java +++ /dev/null @@ -1,80 +0,0 @@ -package org.broadinstitute.sting.gatk.walkers.recalibration; - -import org.broadinstitute.sting.WalkerTest; -import org.testng.annotations.Test; - -import java.util.ArrayList; - - -public class RecalibrationWalkersLargeScaleTest extends WalkerTest { - - private void testCountCovariatesWholeGenomeRunner(String moreArgs) { - WalkerTestSpec spec = new WalkerTestSpec( - "-R " + hg18Reference + - " -T CountCovariates" + - " -I " + evaluationDataLocation + "NA12878.GAII.chr1.50MB.bam" + - " -L chr1:1-50,000,000" + - " -standard" + - " -OQ" + - " -knownSites " + GATKDataLocation + "dbsnp_132.hg18.vcf" + - " -recalFile /dev/null" + moreArgs, - 0, - new ArrayList(0)); - executeTest("testCountCovariatesWholeGenome", spec); - } - - private void testCountCovariatesWholeExomeRunner(String moreArgs) { - WalkerTestSpec spec = new WalkerTestSpec( - "-R " + hg18Reference + - " -T CountCovariates" + - " -I " + evaluationDataLocation + "NA12878.ESP.WEx.chr1.bam" + - " -L " + evaluationDataLocation + "whole_exome_agilent_designed_120.targets.chr1.interval_list" + - " -standard" + - " -OQ" + - " -knownSites " + GATKDataLocation + "dbsnp_132.hg18.vcf" + - " -recalFile /dev/null" + moreArgs, - 0, - new ArrayList(0)); - executeTest("testCountCovariatesWholeExome", spec); - } - - @Test - public void testCountCovariatesWholeGenome() { testCountCovariatesWholeGenomeRunner(""); } - @Test - public void testCountCovariatesWholeGenomeParallel() { testCountCovariatesWholeGenomeRunner(" -nt 4"); } - - @Test - public void testCountCovariatesWholeExome() { testCountCovariatesWholeExomeRunner(""); } - @Test - public void testCountCovariatesWholeExomeParallel() { testCountCovariatesWholeExomeRunner(" -nt 4"); } - - @Test - public void testTableRecalibratorWholeGenome() { - WalkerTestSpec spec = new WalkerTestSpec( - "-R " + hg18Reference + - " -T TableRecalibration" + - " -I " + evaluationDataLocation + "NA12878.GAII.chr1.50MB.bam" + - " -L chr1:1-50,000,000" + - " -OQ" + - " -recalFile " + evaluationDataLocation + "NA12878.GAII.chr1.50MB.recal.csv" + - " -o /dev/null", - 0, - new ArrayList(0)); - executeTest("testTableRecalibratorWholeGenome", spec); - } - - @Test - public void testTableRecalibratorWholeExome() { - WalkerTestSpec spec = new WalkerTestSpec( - "-R " + hg18Reference + - " -T TableRecalibration" + - " -I " + evaluationDataLocation + "NA12878.ESP.WEx.chr1.bam" + - " -L " + evaluationDataLocation + "whole_exome_agilent_designed_120.targets.chr1.interval_list" + - " -OQ" + - " -recalFile " + evaluationDataLocation + "NA12878.ESP.WEx.chr1.recal.csv" + - " -o /dev/null", - 0, - new ArrayList(0)); - executeTest("testTableRecalibratorWholeExome", spec); - } -} diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/validation/ValidationAmpliconsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/validation/ValidationAmpliconsIntegrationTest.java index 155d3c4db..7a849a819 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/validation/ValidationAmpliconsIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/validation/ValidationAmpliconsIntegrationTest.java @@ -17,8 +17,8 @@ public class ValidationAmpliconsIntegrationTest extends WalkerTest { @Test(enabled=true) public void testWikiExample() { String siteVCF = validationDataLocation + "sites_to_validate.vcf"; - String maskVCF = validationDataLocation + "amplicon_mask_sites.vcf"; - String intervalTable = validationDataLocation + "amplicon_interval_table1.table"; + String maskVCF = privateTestDir + "amplicon_mask_sites.vcf"; + String intervalTable = privateTestDir + "amplicon_interval_table1.table"; String testArgs = "-R " + b37KGReference + " -T ValidationAmplicons --ValidateAlleles:VCF "+siteVCF+" -o %s"; testArgs += " --ProbeIntervals:table "+intervalTable+" -L:table "+intervalTable+" --MaskAlleles:VCF "+maskVCF; testArgs += " --virtualPrimerSize 30"; @@ -29,9 +29,9 @@ public class ValidationAmpliconsIntegrationTest extends WalkerTest { @Test(enabled=true) public void testWikiExampleNoBWA() { - String siteVCF = validationDataLocation + "sites_to_validate.vcf"; - String maskVCF = validationDataLocation + "amplicon_mask_sites.vcf"; - String intervalTable = validationDataLocation + "amplicon_interval_table1.table"; + String siteVCF = privateTestDir + "sites_to_validate.vcf"; + String maskVCF = privateTestDir + "amplicon_mask_sites.vcf"; + String intervalTable = privateTestDir + "amplicon_interval_table1.table"; String testArgs = "-R " + b37KGReference + " -T ValidationAmplicons --ValidateAlleles:VCF "+siteVCF+" -o %s"; testArgs += " --ProbeIntervals:table "+intervalTable+" -L:table "+intervalTable+" --MaskAlleles:VCF "+maskVCF; testArgs += " --virtualPrimerSize 30 --doNotUseBWA"; @@ -42,9 +42,9 @@ public class ValidationAmpliconsIntegrationTest extends WalkerTest { @Test(enabled=true) public void testWikiExampleMonoFilter() { - String siteVCF = validationDataLocation + "sites_to_validate.vcf"; - String maskVCF = validationDataLocation + "amplicon_mask_sites.vcf"; - String intervalTable = validationDataLocation + "amplicon_interval_table1.table"; + String siteVCF = privateTestDir + "sites_to_validate.vcf"; + String maskVCF = privateTestDir + "amplicon_mask_sites.vcf"; + String intervalTable = privateTestDir + "amplicon_interval_table1.table"; String testArgs = "-R " + b37KGReference + " -T ValidationAmplicons --ValidateAlleles:VCF "+siteVCF+" -o %s"; testArgs += " --ProbeIntervals:table "+intervalTable+" -L:table "+intervalTable+" --MaskAlleles:VCF "+maskVCF; testArgs += " --virtualPrimerSize 30 --filterMonomorphic"; diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/validation/ValidationSiteSelectorIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/validation/ValidationSiteSelectorIntegrationTest.java index d7c866a0a..0f4ebafd0 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/validation/ValidationSiteSelectorIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/validation/ValidationSiteSelectorIntegrationTest.java @@ -14,7 +14,7 @@ import java.util.Arrays; */ public class ValidationSiteSelectorIntegrationTest extends WalkerTest { public static String baseTestString(String args) { - return "-T ValidationSiteSelector -R " + b36KGReference + " -L 1 -o %s -NO_HEADER -numSites 100 " + args; + return "-T ValidationSiteSelector -R " + b36KGReference + " -L 1 -o %s --no_cmdline_in_header -numSites 100 " + args; } private static String testfile = validationDataLocation + "test.filtered.maf_annotated.vcf"; @@ -33,7 +33,7 @@ public class ValidationSiteSelectorIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( baseTestString(sampleNone + freqUnif + "--variant " + testfile), 1, - Arrays.asList("d49baeb8000a426c172ce1d81eb37963") + Arrays.asList("b8a988757ac1f206d123140da5a3e778") ); executeTest("testNoSampleSelectionFreqUniform--" + testfile, spec); @@ -45,7 +45,7 @@ public class ValidationSiteSelectorIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( baseTestString(sampleNone + freqAF + "--variant " + testfile), 1, - Arrays.asList("0fb0d015d462c34514fc7e96beea5f56") + Arrays.asList("542d5d5ff8c64da7b077bab4b950a9a3") ); executeTest("testNoSampleSelectionFreqAF--" + testfile, spec); @@ -57,7 +57,7 @@ public class ValidationSiteSelectorIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( baseTestString(sampleGT + freqUnif + "--variant " + testfile), 1, - Arrays.asList("0672854299d42ea8af906976a3849ae6") + Arrays.asList("7385b17eed7f4ff0f6e82e60c3334ce7") ); executeTest("testPolyGTFreqUniform--" + testfile, spec); @@ -69,7 +69,7 @@ public class ValidationSiteSelectorIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( baseTestString(sampleGT + freqAF + "--variant " + testfile), 1, - Arrays.asList("5bdffda1a063d0bddd6b236854ec627d") + Arrays.asList("0ee4a565a0d4f6b6942abd72a373becd") ); executeTest("testPolyGTFreqAF--" + testfile, spec); @@ -81,7 +81,7 @@ public class ValidationSiteSelectorIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( baseTestString(sampleGL + freqAF + "--variant " + testfile), 1, - Arrays.asList("35ef16aa41303606a4b94f7b88bd9aa8") + Arrays.asList("0ee4a565a0d4f6b6942abd72a373becd") ); executeTest("testPolyGLFreqAF--" + testfile, spec); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalIntegrationTest.java index 71c014f2c..d9a91c4c2 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalIntegrationTest.java @@ -27,16 +27,20 @@ package org.broadinstitute.sting.gatk.walkers.varianteval; import org.broadinstitute.sting.WalkerTest; import org.broadinstitute.sting.utils.exceptions.UserException; import org.testng.annotations.Test; +import org.testng.annotations.DataProvider; +import java.util.ArrayList; import java.util.Arrays; +import java.util.List; public class VariantEvalIntegrationTest extends WalkerTest { - private static String variantEvalTestDataRoot = validationDataLocation + "VariantEval"; - private static String fundamentalTestVCF = variantEvalTestDataRoot + "/" + "FundamentalsTest.annotated.db.subset.snps_and_indels.vcf"; - private static String fundamentalTestSNPsVCF = variantEvalTestDataRoot + "/" + "FundamentalsTest.annotated.db.subset.final.vcf"; - private static String fundamentalTestSNPsSplit1of2VCF = variantEvalTestDataRoot + "/" + "FundamentalsTest.annotated.db.subset.final.split_1_of_2.vcf"; - private static String fundamentalTestSNPsSplit2of2VCF = variantEvalTestDataRoot + "/" + "FundamentalsTest.annotated.db.subset.final.split_2_of_2.vcf"; - private static String fundamentalTestSNPsOneSampleVCF = variantEvalTestDataRoot + "/" + "FundamentalsTest.annotated.db.subset.final.NA12045.vcf"; + private static String variantEvalTestDataRoot = validationDataLocation + "VariantEval/"; + private static String fundamentalTestVCF = variantEvalTestDataRoot + "FundamentalsTest.annotated.db.subset.snps_and_indels.vcf"; + private static String fundamentalTestSNPsVCF = variantEvalTestDataRoot + "FundamentalsTest.annotated.db.subset.final.vcf"; + private static String fundamentalTestSNPsWithMLEVCF = variantEvalTestDataRoot + "FundamentalsTest.annotated.db.subset.final.withMLE.vcf"; + private static String fundamentalTestSNPsSplit1of2VCF = variantEvalTestDataRoot + "FundamentalsTest.annotated.db.subset.final.split_1_of_2.vcf"; + private static String fundamentalTestSNPsSplit2of2VCF = variantEvalTestDataRoot + "FundamentalsTest.annotated.db.subset.final.split_2_of_2.vcf"; + private static String fundamentalTestSNPsOneSampleVCF = variantEvalTestDataRoot + "FundamentalsTest.annotated.db.subset.final.NA12045.vcf"; private static String cmdRoot = "-T VariantEval" + " -R " + b36KGReference; @@ -57,7 +61,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("e87932ffa1d310cecee49e7829a0f056") + Arrays.asList("7091cbeb47d041463806c8c8f98239a6") ); executeTest("testFunctionClassWithSnpeff", spec); } @@ -77,7 +81,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("8279ee42a6785f9c2b3dda8d82674e00") + Arrays.asList("7a09b8a6759ccee5da55f1f85a43fe9c") ); executeTest("testStratifySamplesAndExcludeMonomorphicSites", spec); } @@ -97,7 +101,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("0bac64d5615f901d3005247c6d016549") + Arrays.asList("f70da7be5d4d8305f3e4433c9004aee4") ); executeTest("testFundamentalsCountVariantsSNPsandIndels", spec); } @@ -118,7 +122,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("b84d8b4429116c887ceb5489c8782f00") + Arrays.asList("e62a3bd9914d48e2bb2fb4f5dfc5ebc0") ); executeTest("testFundamentalsCountVariantsSNPsandIndelsWithNovelty", spec); } @@ -140,7 +144,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("e4f37642d9113a65fbe8bc1d091c206f") + Arrays.asList("087a2d9943c53e7f49663667c3305c7e") ); executeTest("testFundamentalsCountVariantsSNPsandIndelsWithNoveltyAndFilter", spec); } @@ -161,7 +165,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("c5412ee824b4815dc8eea62a4c5462ef") + Arrays.asList("bca988c81a761f12627610e5a3bab5a0") ); executeTest("testFundamentalsCountVariantsSNPsandIndelsWithCpG", spec); } @@ -182,7 +186,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("1d42e97643afd3e7f5f8c9f6416c5883") + Arrays.asList("7ca5c0c5e79ba6cd1e5102ced851a1b4") ); executeTest("testFundamentalsCountVariantsSNPsandIndelsWithFunctionalClass", spec); } @@ -203,7 +207,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("8c2ba70bed2f0fdb0ca371f7038819ef") + Arrays.asList("a6a31f658ad1e76c79190ada758f157c") ); executeTest("testFundamentalsCountVariantsSNPsandIndelsWithDegeneracy", spec); } @@ -224,7 +228,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("c912b4b0bf1925d042119b301c183b93") + Arrays.asList("c1a3df6f89f5ddf7b7c296eb944f3fdd") ); executeTest("testFundamentalsCountVariantsSNPsandIndelsWithSample", spec); } @@ -247,7 +251,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("dea3d2cc53265ff8ed2f0030c40f3747") + Arrays.asList("48652b360ce031aa2f9004c9bae6bda5") ); executeTest("testFundamentalsCountVariantsSNPsandIndelsWithJexlExpression", spec); } @@ -272,7 +276,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("dede22b15936c38e29b850c805c7b706") + Arrays.asList("c3521b18388aff7f53691a63619b3b07") ); executeTest("testFundamentalsCountVariantsSNPsandIndelsWithMultipleJexlExpressions", spec); } @@ -291,7 +295,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("9a94c4c613bf69feb3d9579c353baaf2") + Arrays.asList("90a46e045f3fe8b22f102acaaeec0201") ); executeTest("testFundamentalsCountVariantsNoCompRod", spec); } @@ -302,9 +306,9 @@ public class VariantEvalIntegrationTest extends WalkerTest { String tests = cmdRoot + " --dbsnp " + b36dbSNP129 + " --eval " + validationDataLocation + "yri.trio.gatk_glftrio.intersection.annotated.filtered.chr1.vcf" + - " --comp:comp_genotypes,VCF3 " + validationDataLocation + "yri.trio.gatk.ug.head.vcf"; + " --comp:comp_genotypes " + privateTestDir + "yri.trio.gatk.ug.head.vcf"; WalkerTestSpec spec = new WalkerTestSpec(withSelect(tests, "DP < 50", "DP50") + " " + extraArgs + " -ST CpG -o %s", - 1, Arrays.asList("8d4530e9cef8531c46bbb693b84d04c7")); + 1, Arrays.asList("4b9dcbce0717285e3c0c736c1bed744c")); executeTestParallel("testSelect1", spec); } @@ -314,7 +318,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec(cmdRoot + " -ST CpG --eval:VCF3 " + validationDataLocation + vcfFile + " --comp:VCF3 " + validationDataLocation + "GenotypeConcordanceComp.vcf -noEV -EV GenotypeConcordance -o %s", 1, - Arrays.asList("9bbc762f459023af0480774eb2986af4")); + Arrays.asList("810d55b67de592f6375d9dfb282145ef")); executeTestParallel("testVEGenotypeConcordance" + vcfFile, spec); } @@ -325,14 +329,14 @@ public class VariantEvalIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec("-T VariantEval -R "+b37KGReference+" --eval " + variantEvalTestDataRoot + vcfFile + " -ped "+ variantEvalTestDataRoot + pedFile +" -noEV -EV MendelianViolationEvaluator -L 1:10109-10315 -o %s -mvq 0 -noST", 1, - Arrays.asList("ddcabc30c88a755a78100e30e0d491d2")); + Arrays.asList("c56e19d0647d826485d8a3b559d5c56d")); executeTestParallel("testVEMendelianViolationEvaluator" + vcfFile, spec); } @Test public void testCompVsEvalAC() { String extraArgs = "-T VariantEval -R "+b36KGReference+" -o %s -ST CpG -EV GenotypeConcordance --eval:evalYRI,VCF3 " + validationDataLocation + "yri.trio.gatk.ug.very.few.lines.vcf --comp:compYRI,VCF3 " + validationDataLocation + "yri.trio.gatk.fake.genotypes.ac.test.vcf"; - WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("bb076f7239039191fde883c5e68483ea")); + WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("659a15cc842f0310106fa595a26da71d")); executeTestParallel("testCompVsEvalAC",spec); } @@ -342,15 +346,15 @@ public class VariantEvalIntegrationTest extends WalkerTest { @Test(enabled = false) // no longer supported in the GATK public void testTranches() { - String extraArgs = "-T VariantEval -R "+ hg18Reference +" --eval " + validationDataLocation + "GA2.WEx.cleaned.ug.snpfiltered.indelfiltered.optimized.vcf -o %s -EV TiTvVariantEvaluator -L chr1 -noEV -ST CpG -tf " + testDir + "tranches.6.txt"; + String extraArgs = "-T VariantEval -R "+ hg18Reference +" --eval " + validationDataLocation + "GA2.WEx.cleaned.ug.snpfiltered.indelfiltered.optimized.vcf -o %s -EV TiTvVariantEvaluator -L chr1 -noEV -ST CpG -tf " + privateTestDir + "tranches.6.txt"; WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("6af2b9959aa1778a5b712536de453952")); executeTestParallel("testTranches",spec); } @Test public void testCompOverlap() { - String extraArgs = "-T VariantEval -R " + b37KGReference + " -L " + validationDataLocation + "VariantEval/pacbio.hg19.intervals --comp:comphapmap " + comparisonDataLocation + "Validated/HapMap/3.3/genotypes_r27_nr.b37_fwd.vcf --eval " + validationDataLocation + "VariantEval/pacbio.ts.recalibrated.vcf -noEV -EV CompOverlap -sn NA12878 -noST -ST Novelty -o %s"; - WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("98f9c2f5fef43dbda688d32360908615")); + String extraArgs = "-T VariantEval -R " + b37KGReference + " -L " + variantEvalTestDataRoot + "pacbio.hg19.intervals --comp:comphapmap " + comparisonDataLocation + "Validated/HapMap/3.3/genotypes_r27_nr.b37_fwd.vcf --eval " + variantEvalTestDataRoot + "pacbio.ts.recalibrated.vcf -noEV -EV CompOverlap -sn NA12878 -noST -ST Novelty -o %s"; + WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("59ad39e03678011b5f62492fa83ede04")); executeTestParallel("testCompOverlap",spec); } @@ -360,9 +364,9 @@ public class VariantEvalIntegrationTest extends WalkerTest { b37KGReference + " -L 20" + " --dbsnp " + b37dbSNP132 + - " --eval:evalBI " + validationDataLocation + "VariantEval/ALL.20100201.chr20.bi.sites.vcf" + + " --eval:evalBI " + variantEvalTestDataRoot + "ALL.20100201.chr20.bi.sites.vcf" + " -noST -ST Novelty -o %s"; - WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("9d24f34d94d74417e00e3b7bcf84650f")); + WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("112bb3221688acad83f29542bfb33151")); executeTestParallel("testEvalTrackWithoutGenotypes",spec); } @@ -371,10 +375,10 @@ public class VariantEvalIntegrationTest extends WalkerTest { String extraArgs = "-T VariantEval -R " + b37KGReference + " -L 20" + " --dbsnp " + b37dbSNP132 + - " --eval:evalBI " + validationDataLocation + "VariantEval/ALL.20100201.chr20.bi.sites.vcf" + - " --eval:evalBC " + validationDataLocation + "VariantEval/ALL.20100201.chr20.bc.sites.vcf" + + " --eval:evalBI " + variantEvalTestDataRoot + "ALL.20100201.chr20.bi.sites.vcf" + + " --eval:evalBC " + variantEvalTestDataRoot + "ALL.20100201.chr20.bc.sites.vcf" + " -noST -ST Novelty -o %s"; - WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("7329b0bc73c9ccaf5facd754f3410c38")); + WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("81dcdde458c1ebb9aa35289ea8f12bc8")); executeTestParallel("testMultipleEvalTracksWithoutGenotypes",spec); } @@ -384,20 +388,20 @@ public class VariantEvalIntegrationTest extends WalkerTest { String extraArgs = "-T VariantEval" + " -R " + b37KGReference + - " --comp " + validationDataLocation + "/VariantEval/ALL.phase1.chr20.broad.snps.genotypes.subset.vcf" + - " --eval " + validationDataLocation + "/VariantEval/NA12878.hg19.HiSeq.WGS.cleaned.ug.snpfiltered.indelfiltered.optimized.cut.subset.vcf" + + " --comp " + variantEvalTestDataRoot + "ALL.phase1.chr20.broad.snps.genotypes.subset.vcf" + + " --eval " + variantEvalTestDataRoot + "NA12878.hg19.HiSeq.WGS.cleaned.ug.snpfiltered.indelfiltered.optimized.cut.subset.vcf" + " --dbsnp " + dbsnp + " -L 20:10000000-10100000" + " -noST -noEV -ST Novelty -EV CompOverlap" + " -o %s"; - WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("d0218c5435c8601f2355b7d183ab032f")); + WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("44146b8d4ddbaeb9409c9b88eefe7f40")); executeTestParallel("testMultipleCompTracks",spec); } @Test public void testPerSampleAndSubsettedSampleHaveSameResults1() { - String md5 = "b5cd5c286d459b8edd4ca54320e560a3"; + String md5 = "5f894d726cfaa0b29d7c11ff5bb9b3fd"; WalkerTestSpec spec = new WalkerTestSpec( buildCommandLine( @@ -452,11 +456,32 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("1198bfea6183bd43219071a84c79a386") + Arrays.asList("0d51321693d4afc262e4059353993d12") ); executeTest("testAlleleCountStrat", spec); } + @Test + public void testAlleleCountStratWithMLE() { + WalkerTestSpec spec = new WalkerTestSpec( + buildCommandLine( + "-T VariantEval", + "-R " + b37KGReference, + "--dbsnp " + b37dbSNP132, + "--eval " + fundamentalTestSNPsWithMLEVCF, + "-noEV", + "-EV CountVariants", + "-noST", + "-ST AlleleCount", + "-L " + fundamentalTestSNPsWithMLEVCF, + "-o %s" + ), + 1, + Arrays.asList("cadd4e32ab82f7e43d0e510dfe5e6dda") + ); + executeTest("testAlleleCountStratWithMLE", spec); + } + @Test public void testMultipleEvalTracksAlleleCountWithMerge() { WalkerTestSpec spec = new WalkerTestSpec( @@ -475,7 +500,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("1198bfea6183bd43219071a84c79a386") + Arrays.asList("0d51321693d4afc262e4059353993d12") ); executeTest("testMultipleEvalTracksAlleleCountWithMerge", spec); } @@ -508,17 +533,17 @@ public class VariantEvalIntegrationTest extends WalkerTest { buildCommandLine( "-T VariantEval", "-R " + b37KGReference, - "-eval " + testDir + "/withSymbolic.b37.vcf", + "-eval " + privateTestDir + "/withSymbolic.b37.vcf", "-noEV", "-EV CountVariants", "-noST", - "-stratIntervals " + testDir + "/overlapTest.bed", + "-stratIntervals " + privateTestDir + "/overlapTest.bed", "-ST IntervalStratification", "-L 20", "-o %s" ), 1, - Arrays.asList("6decba040051daafad4ecad5a411e1e1") + Arrays.asList("74fc726760c0fcfe50c44c853756f261") ); executeTest("testIntervalStrat", spec); } @@ -535,7 +560,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("aad01b26198b30da5d59a05c08d863bb") + Arrays.asList("f8460af997436a5ce4407fefb0e2724d") ); executeTest("testModernVCFWithLargeIndels", spec); } @@ -555,7 +580,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { "-o %s" ), 1, - Arrays.asList("4fa2557663ef8fb4cdeecd667791985c") + Arrays.asList("7dc2d8983cb7d98b291ca2f60a9151b2") ); executeTest("testStandardIndelEval", spec); } @@ -580,7 +605,7 @@ public class VariantEvalIntegrationTest extends WalkerTest { buildCommandLine( "-T VariantEval", "-R " + b37KGReference, - "-eval " + testDir + "/ac0.vcf", + "-eval " + privateTestDir + "/ac0.vcf", "-L 20:81006 -noST -noEV -EV VariantSummary -o %s" + (includeAC0 ? " -keepAC0" : "") ), 1, @@ -588,7 +613,40 @@ public class VariantEvalIntegrationTest extends WalkerTest { executeTest("testIncludingAC0 keep ac 0 = " + includeAC0, spec); } - @Test public void testWithAC0() { testIncludingAC0(true, "0ed2c8e4b4e06973a06838bc930a132d"); } - @Test public void testWithoutAC0() { testIncludingAC0(false, "79d28ddd0ab9584776b6cbefe48331df"); } + @Test public void testWithAC0() { testIncludingAC0(true, "c786128cfe4d3e28cdbc15c5c838ad20"); } + @Test public void testWithoutAC0() { testIncludingAC0(false, "7bc505c07d9aee49571ad4b3fc9f7feb"); } + // + // Test validation report is doing the right thing with sites only and genotypes files + // where the validation comp has more genotypes than eval + // + @Test(dataProvider = "testValidationReportData") + public void testValidationReport(final String name, final String eval, final String comp, final String md5) { + WalkerTestSpec spec = new WalkerTestSpec( + buildCommandLine( + "-T VariantEval", + "-R " + b37KGReference, + "-eval " + eval, + "-comp " + comp, + "-L 20:10,000,000-10,000,010 -noST -noEV -EV ValidationReport -o %s" + ), + 1, + Arrays.asList(md5)); + executeTest("testValidationReport with " + name, spec); + } + + @DataProvider(name = "testValidationReportData") + public Object[][] testValidationReportData() { + final String compGenotypes = privateTestDir + "/validationReportComp.vcf"; + final String compSites = privateTestDir + "/validationReportComp.noGenotypes.vcf"; + final String evalGenotypes = privateTestDir + "/validationReportEval.vcf"; + final String evalSites = privateTestDir + "/validationReportEval.noGenotypes.vcf"; + + List tests = new ArrayList(); + tests.add(new Object[]{"sites/sites", evalSites, compSites, "0b32e19efce28087cdc7b58e17ed633a"}); + tests.add(new Object[]{"sites/genotypes", evalSites, compGenotypes, "e2ffecee4a3acd0da7dd7fe10a59b2bc"}); + tests.add(new Object[]{"genotypes/sites", evalGenotypes, compSites, "f0dbb848a94b451e42765b0cb9d09ee2"}); + tests.add(new Object[]{"genotypes/genotypes", evalGenotypes, compGenotypes, "73790b530595fcbd467a88475ea9717f"}); + return tests.toArray(new Object[][]{}); + } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalWalkerUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalWalkerUnitTest.java index ca06ca699..f6c12f443 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalWalkerUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEvalWalkerUnitTest.java @@ -49,13 +49,13 @@ import java.util.*; public class VariantEvalWalkerUnitTest extends BaseTest { - VariantEvalWalker VEwalker; + VariantEval VEwalker; VariantContext eval; @BeforeMethod public void init() { - VEwalker = new VariantEvalWalker(); + VEwalker = new VariantEval(); eval = new VariantContextBuilder("x", "chr1", 1, 1, Collections.singleton(Allele.create("A", true))).make(); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantGaussianMixtureModelUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantGaussianMixtureModelUnitTest.java index eece0ff39..93b2fe0c9 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantGaussianMixtureModelUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantGaussianMixtureModelUnitTest.java @@ -45,10 +45,10 @@ public final class VariantGaussianMixtureModelUnitTest extends BaseTest { private static int N_VARIANTS = 100; VariantDatum[] variantData1 = new VariantDatum[N_VARIANTS]; - private final File QUAL_DATA = new File(testDir + "tranches.raw.dat"); + private final File QUAL_DATA = new File(privateTestDir + "tranches.raw.dat"); private final double[] TRUTH_SENSITIVITY_CUTS = new double[]{99.9, 99.0, 97.0, 95.0}; - private final File EXPECTED_TRANCHES_NEW = new File(testDir + "tranches.6.txt"); - private final File EXPECTED_TRANCHES_OLD = new File(testDir + "tranches.4.txt"); + private final File EXPECTED_TRANCHES_NEW = new File(privateTestDir + "tranches.6.txt"); + private final File EXPECTED_TRANCHES_OLD = new File(privateTestDir + "tranches.4.txt"); private ArrayList readData() { ArrayList vd = new ArrayList(); @@ -112,7 +112,7 @@ public final class VariantGaussianMixtureModelUnitTest extends BaseTest { private static List findMyTranches(ArrayList vd, double[] tranches) { final int nCallsAtTruth = TrancheManager.countCallsAtTruth( vd, Double.NEGATIVE_INFINITY ); final TrancheManager.SelectionMetric metric = new TrancheManager.TruthSensitivityMetric( nCallsAtTruth ); - return TrancheManager.findTranches(vd, tranches, metric); + return TrancheManager.findTranches(vd, tranches, metric, VariantRecalibratorArgumentCollection.Mode.SNP); } @Test diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrationWalkersIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrationWalkersIntegrationTest.java index 879a5bfa3..2411f9e08 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrationWalkersIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrationWalkersIntegrationTest.java @@ -1,6 +1,5 @@ package org.broadinstitute.sting.gatk.walkers.variantrecalibration; -import org.broadinstitute.sting.MD5DB; import org.broadinstitute.sting.WalkerTest; import org.testng.annotations.Test; import org.testng.annotations.DataProvider; @@ -8,10 +7,6 @@ import org.testng.annotations.DataProvider; import java.util.*; public class VariantRecalibrationWalkersIntegrationTest extends WalkerTest { - static HashMap clusterFiles = new HashMap(); - static HashMap tranchesFiles = new HashMap(); - static HashMap inputVCFFiles = new HashMap(); - private static class VRTest { String inVCF; String tranchesMD5; @@ -23,12 +18,17 @@ public class VariantRecalibrationWalkersIntegrationTest extends WalkerTest { this.recalMD5 = recalMD5; this.cutVCFMD5 = cutVCFMD5; } + + @Override + public String toString() { + return "VRTest{inVCF='" + inVCF +"'}"; + } } VRTest lowPass = new VRTest("phase1.projectConsensus.chr20.raw.snps.vcf", - "0ddd1e0e483d2eaf56004615cea23ec7", // tranches - "f8e21a1987960b950db1f0d98be45352", // recal file - "f67d844b6252a55452cf4167b77530b1"); // cut VCF + "62f81e7d2082fbc71cae0101c27fefad", // tranches + "b9709e4180e56abc691b208bd3e8626c", // recal file + "75c178345f70ca2eb90205662fbdf968"); // cut VCF @DataProvider(name = "VRTest") public Object[][] createData1() { @@ -47,6 +47,7 @@ public class VariantRecalibrationWalkersIntegrationTest extends WalkerTest { " -T VariantRecalibrator" + " -input " + params.inVCF + " -L 20:1,000,000-40,000,000" + + " --no_cmdline_in_header" + " -an QD -an HaplotypeScore -an HRun" + " -percentBad 0.07" + " --minNumBadVariants 0" + @@ -63,23 +64,31 @@ public class VariantRecalibrationWalkersIntegrationTest extends WalkerTest { "-R " + b37KGReference + " -T ApplyRecalibration" + " -L 20:12,000,000-30,000,000" + - " -NO_HEADER" + + " --no_cmdline_in_header" + " -input " + params.inVCF + - " -o %s" + - " -tranchesFile " + MD5DB.getMD5FilePath(params.tranchesMD5, null) + - " -recalFile " + MD5DB.getMD5FilePath(params.recalMD5, null), + " -U LENIENT_VCF_PROCESSING -o %s" + + " -tranchesFile " + getMd5DB().getMD5FilePath(params.tranchesMD5, null) + + " -recalFile " + getMd5DB().getMD5FilePath(params.recalMD5, null), Arrays.asList(params.cutVCFMD5)); + spec.disableShadowBCF(); // TODO -- enable when we support symbolic alleles executeTest("testApplyRecalibration-"+params.inVCF, spec); } - VRTest indel = new VRTest("combined.phase1.chr20.raw.indels.sites.vcf", - "da4458d05f6396f5c4ab96f274e5ccdc", // tranches - "cf380d9b0ae04c8918be8425f82035b4", // recal file - "b00e5e5a6807df8ed1682317948e8a6d"); // cut VCF + VRTest indelUnfiltered = new VRTest( + "combined.phase1.chr20.raw.indels.unfiltered.sites.vcf", // all FILTERs as . + "b7589cd098dc153ec64c02dcff2838e4", // tranches + "a04a9001f62eff43d363f4d63769f3ee", // recal file + "64f576881e21323dd4078262604717a2"); // cut VCF + + VRTest indelFiltered = new VRTest( + "combined.phase1.chr20.raw.indels.filtered.sites.vcf", // all FILTERs as PASS + "b7589cd098dc153ec64c02dcff2838e4", // tranches + "a04a9001f62eff43d363f4d63769f3ee", // recal file + "af22c55d91394c56a222fd40d6d54781"); // cut VCF @DataProvider(name = "VRIndelTest") - public Object[][] createData2() { - return new Object[][]{ {indel} }; + public Object[][] createTestVariantRecalibratorIndel() { + return new Object[][]{ {indelUnfiltered}, {indelFiltered} }; } @Test(dataProvider = "VRIndelTest") @@ -92,6 +101,7 @@ public class VariantRecalibrationWalkersIntegrationTest extends WalkerTest { " -T VariantRecalibrator" + " -input " + params.inVCF + " -L 20:1,000,000-40,000,000" + + " --no_cmdline_in_header" + " -an QD -an ReadPosRankSum -an HaplotypeScore" + " -percentBad 0.08" + " -mode INDEL -mG 3" + @@ -110,12 +120,13 @@ public class VariantRecalibrationWalkersIntegrationTest extends WalkerTest { " -T ApplyRecalibration" + " -L 20:12,000,000-30,000,000" + " -mode INDEL" + - " -NO_HEADER" + + " -U LENIENT_VCF_PROCESSING --no_cmdline_in_header" + " -input " + params.inVCF + " -o %s" + - " -tranchesFile " + MD5DB.getMD5FilePath(params.tranchesMD5, null) + - " -recalFile " + MD5DB.getMD5FilePath(params.recalMD5, null), + " -tranchesFile " + getMd5DB().getMD5FilePath(params.tranchesMD5, null) + + " -recalFile " + getMd5DB().getMD5FilePath(params.recalMD5, null), Arrays.asList(params.cutVCFMD5)); + spec.disableShadowBCF(); // has to be disabled because the input VCF is missing LowQual annotation executeTest("testApplyRecalibrationIndel-"+params.inVCF, spec); } @@ -126,12 +137,12 @@ public class VariantRecalibrationWalkersIntegrationTest extends WalkerTest { " -T ApplyRecalibration" + " -L 20:1000100-1000500" + " -mode BOTH" + - " -NO_HEADER" + - " -input " + validationDataLocation + "VQSR.mixedTest.input" + + " --no_cmdline_in_header" + + " -input " + privateTestDir + "VQSR.mixedTest.input" + " -o %s" + - " -tranchesFile " + validationDataLocation + "VQSR.mixedTest.tranches" + - " -recalFile " + validationDataLocation + "VQSR.mixedTest.recal", - Arrays.asList("08060b7f5c9cf3bb1692b50c58fd5a4b")); + " -tranchesFile " + privateTestDir + "VQSR.mixedTest.tranches" + + " -recalFile " + privateTestDir + "VQSR.mixedTest.recal", + Arrays.asList("ec519e1f01459813dab57aefffc019e2")); executeTest("testApplyRecalibrationSnpAndIndelTogether", spec); } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsIntegrationTest.java index 5282c9e58..bbee99ba6 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsIntegrationTest.java @@ -34,8 +34,23 @@ import java.util.Arrays; * Tests CombineVariants */ public class CombineVariantsIntegrationTest extends WalkerTest { - public static String baseTestString(String args) { - return "-T CombineVariants -NO_HEADER -L 1:1-50,000,000 -o %s -R " + b36KGReference + args; + // + // TODO TODO TODO TODO TODO TODO TODO TODO + // TODO TODO TODO TODO TODO TODO TODO TODO + // + // TODO WHEN THE HC EMITS VALID VCF HEADERS ENABLE BCF AND REMOVE lenientVCFProcessing ARGUMENTS + // + // TODO TODO TODO TODO TODO TODO TODO TODO + // TODO TODO TODO TODO TODO TODO TODO TODO + // TODO TODO TODO TODO TODO TODO TODO TODO + // + private static String baseTestString(String args) { + return "-T CombineVariants --no_cmdline_in_header -L 1:1-50,000,000 -o %s -U LENIENT_VCF_PROCESSING -R " + b36KGReference + args; + } + + private void cvExecuteTest(final String name, final WalkerTestSpec spec) { + spec.disableShadowBCF(); + executeTest(name, spec); } public void test1InOut(String file, String md5) { @@ -47,7 +62,7 @@ public class CombineVariantsIntegrationTest extends WalkerTest { baseTestString(" -priority v1 -V:v1 " + validationDataLocation + file + args), 1, Arrays.asList(md5)); - executeTest("testInOut1--" + file, spec); + cvExecuteTest("testInOut1--" + file, spec); } public void combine2(String file1, String file2, String args, String md5) { @@ -55,49 +70,49 @@ public class CombineVariantsIntegrationTest extends WalkerTest { baseTestString(" -priority v1,v2 -V:v1 " + validationDataLocation + file1 + " -V:v2 "+ validationDataLocation + file2 + args), 1, Arrays.asList(md5)); - executeTest("combine2 1:" + new File(file1).getName() + " 2:" + new File(file2).getName(), spec); + cvExecuteTest("combine2 1:" + new File(file1).getName() + " 2:" + new File(file2).getName(), spec); } public void combineSites(String args, String md5) { String file1 = "1000G_omni2.5.b37.sites.vcf"; String file2 = "hapmap_3.3.b37.sites.vcf"; WalkerTestSpec spec = new WalkerTestSpec( - "-T CombineVariants -NO_HEADER -o %s -R " + b37KGReference + "-T CombineVariants --no_cmdline_in_header -o %s -R " + b37KGReference + " -L 1:1-10,000,000 -V:omni " + validationDataLocation + file1 + " -V:hm3 " + validationDataLocation + file2 + args, 1, Arrays.asList(md5)); - executeTest("combineSites 1:" + new File(file1).getName() + " 2:" + new File(file2).getName() + " args = " + args, spec); + cvExecuteTest("combineSites 1:" + new File(file1).getName() + " 2:" + new File(file2).getName() + " args = " + args, spec); } public void combinePLs(String file1, String file2, String md5) { WalkerTestSpec spec = new WalkerTestSpec( - "-T CombineVariants -NO_HEADER -o %s -R " + b36KGReference + " -priority v1,v2 -V:v1 " + validationDataLocation + file1 + " -V:v2 " + validationDataLocation + file2, + "-T CombineVariants --no_cmdline_in_header -o %s -R " + b36KGReference + " -priority v1,v2 -V:v1 " + privateTestDir + file1 + " -V:v2 " + privateTestDir + file2, 1, Arrays.asList(md5)); - executeTest("combine PLs 1:" + new File(file1).getName() + " 2:" + new File(file2).getName(), spec); + cvExecuteTest("combine PLs 1:" + new File(file1).getName() + " 2:" + new File(file2).getName(), spec); } - @Test public void test1SNP() { test1InOut("pilot2.snps.vcf4.genotypes.vcf", "ea0a660cd04101ce7b534aba0310721d"); } - @Test public void test2SNP() { test1InOut("pilot2.snps.vcf4.genotypes.vcf", "cb0350e7a9d2483993482b69f5432b64", " -setKey foo"); } - @Test public void test3SNP() { test1InOut("pilot2.snps.vcf4.genotypes.vcf", "0571c48cc59cf244779caae52d562e79", " -setKey null"); } - @Test public void testOfficialCEUPilotCalls() { test1InOut("CEU.trio.2010_03.genotypes.vcf.gz", "c9c901ff9ef2a982624b203a8086dff0"); } // official project VCF files in tabix format + @Test public void test1SNP() { test1InOut("pilot2.snps.vcf4.genotypes.vcf", "6469fce8a5cd5a0f77e5ac5d9e9e192b"); } + @Test public void test2SNP() { test1InOut("pilot2.snps.vcf4.genotypes.vcf", "a4cedaa83d54e34cafc3ac4b80acf5b4", " -setKey foo"); } + @Test public void test3SNP() { test1InOut("pilot2.snps.vcf4.genotypes.vcf", "ac58a5fde17661e2a19004ca954d9781", " -setKey null"); } + @Test public void testOfficialCEUPilotCalls() { test1InOut("CEU.trio.2010_03.genotypes.vcf.gz", "67a8076e30b4bca0ea5acdc9cd26a4e0"); } // official project VCF files in tabix format - @Test public void test1Indel1() { test1InOut("CEU.dindel.vcf4.trio.2010_06.indel.genotypes.vcf", "75901304abc1daa41b1906f881aa7bbc"); } - @Test public void test1Indel2() { test1InOut("CEU.dindel.vcf4.low_coverage.2010_06.indel.genotypes.vcf", "1cd467863c4e948fadd970681552d57e"); } + @Test public void test1Indel1() { test1InOut("CEU.dindel.vcf4.trio.2010_06.indel.genotypes.vcf", "ef2d249ea4b25311966e038aac05c661"); } + @Test public void test1Indel2() { test1InOut("CEU.dindel.vcf4.low_coverage.2010_06.indel.genotypes.vcf", "cdb448aaa92ca5a9e393d875b42581b3"); } - @Test public void combineWithPLs() { combinePLs("combine.3.vcf", "combine.4.vcf", "d08e933b6c81246e998d3ece50ddfdcc"); } + @Test public void combineWithPLs() { combinePLs("combine.3.vcf", "combine.4.vcf", "f0ce3fb83d4ad9ba402d7cb11cd000c3"); } - @Test public void combineTrioCalls() { combine2("CEU.trio.2010_03.genotypes.vcf.gz", "YRI.trio.2010_03.genotypes.vcf.gz", "", "01967686e0e02dbccd2590b70f2d049b"); } // official project VCF files in tabix format - @Test public void combineTrioCallsMin() { combine2("CEU.trio.2010_03.genotypes.vcf.gz", "YRI.trio.2010_03.genotypes.vcf.gz", " -minimalVCF", "8c113199c4a93a4a408104b735d59044"); } // official project VCF files in tabix format - @Test public void combine2Indels() { combine2("CEU.dindel.vcf4.trio.2010_06.indel.genotypes.vcf", "CEU.dindel.vcf4.low_coverage.2010_06.indel.genotypes.vcf", "", "30e96a0cb614cd5bc056e1f7ec6d10bd"); } + @Test public void combineTrioCalls() { combine2("CEU.trio.2010_03.genotypes.vcf.gz", "YRI.trio.2010_03.genotypes.vcf.gz", "", "4efdf983918db822e4ac13d911509576"); } // official project VCF files in tabix format + @Test public void combineTrioCallsMin() { combine2("CEU.trio.2010_03.genotypes.vcf.gz", "YRI.trio.2010_03.genotypes.vcf.gz", " -minimalVCF", "848d4408ee953053d2307cefebc6bd6d"); } // official project VCF files in tabix format + @Test public void combine2Indels() { combine2("CEU.dindel.vcf4.trio.2010_06.indel.genotypes.vcf", "CEU.dindel.vcf4.low_coverage.2010_06.indel.genotypes.vcf", "", "91f6087e6e2bf3df4d1c9700eaff958b"); } - @Test public void combineSNPsAndIndels() { combine2("CEU.trio.2010_03.genotypes.vcf.gz", "CEU.dindel.vcf4.low_coverage.2010_06.indel.genotypes.vcf", "", "e144b6283765494bfe8189ac59965083"); } + @Test public void combineSNPsAndIndels() { combine2("CEU.trio.2010_03.genotypes.vcf.gz", "CEU.dindel.vcf4.low_coverage.2010_06.indel.genotypes.vcf", "", "a9be239ab5e03e7e97caef58a3841dd2"); } - @Test public void uniqueSNPs() { combine2("pilot2.snps.vcf4.genotypes.vcf", "yri.trio.gatk_glftrio.intersection.annotated.filtered.chr1.vcf", "", "78a49597f1abf1c738e67d50c8fbed2b"); } + @Test public void uniqueSNPs() { combine2("pilot2.snps.vcf4.genotypes.vcf", "yri.trio.gatk_glftrio.intersection.annotated.filtered.chr1.vcf", "", "0b1815c699e71e143ed129bfadaffbcb"); } - @Test public void omniHM3Union() { combineSites(" -filteredRecordsMergeType KEEP_IF_ANY_UNFILTERED", "4c63bfa5f73793aaca42e130ec49f238"); } - @Test public void omniHM3Intersect() { combineSites(" -filteredRecordsMergeType KEEP_IF_ALL_UNFILTERED", "86e326acbd8d2af8a6040eb146d92fc6"); } + @Test public void omniHM3Union() { combineSites(" -filteredRecordsMergeType KEEP_IF_ANY_UNFILTERED", "def52bcd3942bbe39cd7ebe845c4f206"); } + @Test public void omniHM3Intersect() { combineSites(" -filteredRecordsMergeType KEEP_IF_ALL_UNFILTERED", "5f61145949180bf2a0cd342d8e064860"); } @Test public void threeWayWithRefs() { WalkerTestSpec spec = new WalkerTestSpec( @@ -110,8 +125,8 @@ public class CombineVariantsIntegrationTest extends WalkerTest { " -priority NA19240_BGI,NA19240_ILLUMINA,NA19240_WUGSC,denovoInfo" + " -genotypeMergeOptions UNIQUIFY -L 1"), 1, - Arrays.asList("ee43a558fd3faeaa447acab89f0001d5")); - executeTest("threeWayWithRefs", spec); + Arrays.asList("3039cfff7abee6aa7fbbafec66a1b019")); + cvExecuteTest("threeWayWithRefs", spec); } // complex examples with filtering, indels, and multiple alleles @@ -119,25 +134,25 @@ public class CombineVariantsIntegrationTest extends WalkerTest { String file1 = "combine.1.vcf"; String file2 = "combine.2.vcf"; WalkerTestSpec spec = new WalkerTestSpec( - "-T CombineVariants -NO_HEADER -o %s -R " + b37KGReference - + " -V:one " + validationDataLocation + file1 - + " -V:two " + validationDataLocation + file2 + args, + "-T CombineVariants --no_cmdline_in_header -o %s -R " + b37KGReference + + " -V:one " + privateTestDir + file1 + + " -V:two " + privateTestDir + file2 + args, 1, Arrays.asList(md5)); - executeTest("combineComplexSites 1:" + new File(file1).getName() + " 2:" + new File(file2).getName() + " args = " + args, spec); + cvExecuteTest("combineComplexSites 1:" + new File(file1).getName() + " 2:" + new File(file2).getName() + " args = " + args, spec); } - @Test public void complexTestFull() { combineComplexSites("", "2842337e9943366f7a4d5f148f701b8c"); } - @Test public void complexTestMinimal() { combineComplexSites(" -minimalVCF", "39724318e6265d0318a3fe4609612785"); } - @Test public void complexTestSitesOnly() { combineComplexSites(" -sites_only", "fe9bb02ab8b3d0dd2ad6373ebdb6d915"); } - @Test public void complexTestSitesOnlyMinimal() { combineComplexSites(" -sites_only -minimalVCF", "fe9bb02ab8b3d0dd2ad6373ebdb6d915"); } + @Test public void complexTestFull() { combineComplexSites("", "151a4970367dd3e73ba3e7f3c2f874f6"); } + @Test public void complexTestMinimal() { combineComplexSites(" -minimalVCF", "c0625e092b878b3d3eb1703c48e216b7"); } + @Test public void complexTestSitesOnly() { combineComplexSites(" -sites_only", "6978329d6a1033ac16f83b49072c679b"); } + @Test public void complexTestSitesOnlyMinimal() { combineComplexSites(" -sites_only -minimalVCF", "6978329d6a1033ac16f83b49072c679b"); } @Test public void combineDBSNPDuplicateSites() { WalkerTestSpec spec = new WalkerTestSpec( - "-T CombineVariants -NO_HEADER -L 1:902000-903000 -o %s -R " + b37KGReference + " -V:v1 " + b37dbSNP132, + "-T CombineVariants --no_cmdline_in_header -L 1:902000-903000 -o %s -R " + b37KGReference + " -V:v1 " + b37dbSNP132, 1, - Arrays.asList("5969446769cb8377daa2db29304ae6b5")); - executeTest("combineDBSNPDuplicateSites:", spec); + Arrays.asList("aa926eae333208dc1f41fe69dc95d7a6")); + cvExecuteTest("combineDBSNPDuplicateSites:", spec); } } \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsUnitTest.java index a64d0b5ab..21d49638f 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsUnitTest.java @@ -1,11 +1,12 @@ package org.broadinstitute.sting.gatk.walkers.variantutils; import org.broad.tribble.readers.AsciiLineReader; +import org.broad.tribble.readers.PositionalBufferedStream; import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; import org.testng.Assert; -import org.broadinstitute.sting.utils.genotype.vcf.VCFHeaderUnitTest; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderUnitTest; import org.broadinstitute.sting.utils.codecs.vcf.VCFUtils; import org.testng.annotations.Test; @@ -38,9 +39,9 @@ public class CombineVariantsUnitTest { "##fileformat=VCFv4.0\n"+ "##filedate=2010-06-21\n"+ "##reference=NCBI36\n"+ - "##INFO=\n"+ + "##INFO=\n"+ "##INFO=\n"+ - "##INFO=\n"+ // string to integer + "##INFO=\n"+ // string to integer "##FILTER=\n"+ "##FORMAT=\n"+ "##FORMAT=\n"+ @@ -63,7 +64,7 @@ public class CombineVariantsUnitTest { private VCFHeader createHeader(String headerStr) { VCFCodec codec = new VCFCodec(); - VCFHeader head = (VCFHeader)codec.readHeader(new AsciiLineReader(new StringBufferInputStream(headerStr))); + VCFHeader head = (VCFHeader)codec.readHeader(new AsciiLineReader(new PositionalBufferedStream(new StringBufferInputStream(headerStr)))); return head; } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariantsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariantsIntegrationTest.java index 2139a53e7..c79c5449a 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariantsIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariantsIntegrationTest.java @@ -38,9 +38,9 @@ public class LeftAlignVariantsIntegrationTest extends WalkerTest { @Test public void testLeftAlignment() { WalkerTestSpec spec = new WalkerTestSpec( - "-T LeftAlignVariants -o %s -R " + b37KGReference + " --variant:vcf " + validationDataLocation + "forLeftAlignVariantsTest.vcf -NO_HEADER", + "-T LeftAlignVariants -o %s -R " + b37KGReference + " --variant:vcf " + privateTestDir + "forLeftAlignVariantsTest.vcf --no_cmdline_in_header", 1, - Arrays.asList("158b1d71b28c52e2789f164500b53732")); + Arrays.asList("bcf05f56adbb32a47b6d6b27b327d5c2")); executeTest("test left alignment", spec); } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariantsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariantsIntegrationTest.java index d10bb4452..e14580ead 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariantsIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariantsIntegrationTest.java @@ -38,27 +38,27 @@ public class LiftoverVariantsIntegrationTest extends WalkerTest { @Test public void testb36Tohg19() { WalkerTestSpec spec = new WalkerTestSpec( - "-T LiftoverVariants -o %s -R " + b36KGReference + " --variant:vcf3 " + validationDataLocation + "yri.trio.gatk_glftrio.intersection.annotated.filtered.chr1.500.noheader.vcf -chain " + validationDataLocation + "b36ToHg19.broad.over.chain -dict /seq/references/Homo_sapiens_assembly19/v0/Homo_sapiens_assembly19.dict", + "-T LiftoverVariants -o %s -R " + b36KGReference + " --variant " + privateTestDir + "yri.trio.gatk_glftrio.intersection.annotated.filtered.chr1.500.noheader.vcf -chain " + validationDataLocation + "b36ToHg19.broad.over.chain -dict /seq/references/Homo_sapiens_assembly19/v0/Homo_sapiens_assembly19.dict", 1, - Arrays.asList("70aeaca5b74cc7ba8e2da7b71ff0fbfd")); + Arrays.asList("7d5f91fcf419211ae9eca6c66dcec0e6")); executeTest("test b36 to hg19", spec); } @Test public void testb36Tohg19UnsortedSamples() { WalkerTestSpec spec = new WalkerTestSpec( - "-T LiftoverVariants -o %s -R " + b36KGReference + " --variant:vcf3 " + validationDataLocation + "yri.trio.gatk_glftrio.intersection.annotated.filtered.chr1.500.noheader.unsortedSamples.vcf -chain " + validationDataLocation + "b36ToHg19.broad.over.chain -dict /seq/references/Homo_sapiens_assembly19/v0/Homo_sapiens_assembly19.dict", + "-T LiftoverVariants -o %s -R " + b36KGReference + " --variant " + privateTestDir + "yri.trio.gatk_glftrio.intersection.annotated.filtered.chr1.500.noheader.unsortedSamples.vcf -chain " + validationDataLocation + "b36ToHg19.broad.over.chain -dict /seq/references/Homo_sapiens_assembly19/v0/Homo_sapiens_assembly19.dict", 1, - Arrays.asList("3fd7ec2dc4064ef410786276b0dc9d08")); + Arrays.asList("29dab3555e7f1ee6a60e267b00215a11")); executeTest("test b36 to hg19, unsorted samples", spec); } @Test public void testhg18Tohg19Unsorted() { WalkerTestSpec spec = new WalkerTestSpec( - "-T LiftoverVariants -o %s -R " + hg18Reference + " --variant:vcf " + validationDataLocation + "liftover_test.vcf -chain " + validationDataLocation + "hg18ToHg19.broad.over.chain -dict /seq/references/Homo_sapiens_assembly19/v0/Homo_sapiens_assembly19.dict", + "-T LiftoverVariants -o %s -R " + hg18Reference + " --variant:vcf " + privateTestDir + "liftover_test.vcf -chain " + validationDataLocation + "hg18ToHg19.broad.over.chain -dict /seq/references/Homo_sapiens_assembly19/v0/Homo_sapiens_assembly19.dict", 1, - Arrays.asList("ab2c6254225d7e2ecf52eee604d5673b")); + Arrays.asList("7e7bad0e1890753a01303c09a38ceb8d")); executeTest("test hg18 to hg19, unsorted", spec); } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariantsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariantsIntegrationTest.java index 973588cf0..e25d65465 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariantsIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariantsIntegrationTest.java @@ -1,13 +1,59 @@ package org.broadinstitute.sting.gatk.walkers.variantutils; import org.broadinstitute.sting.WalkerTest; +import org.broadinstitute.sting.utils.exceptions.UserException; import org.testng.annotations.Test; import java.util.Arrays; public class SelectVariantsIntegrationTest extends WalkerTest { public static String baseTestString(String args) { - return "-T SelectVariants -R " + b36KGReference + " -L 1 -o %s -NO_HEADER" + args; + return "-T SelectVariants -R " + b36KGReference + " -L 1 -o %s --no_cmdline_in_header" + args; + } + + @Test + public void testDiscordanceNoSampleSpecified() { + String testFile = privateTestDir + "NA12878.hg19.example1.vcf"; + + WalkerTestSpec spec = new WalkerTestSpec( + "-T SelectVariants -R " + hg19Reference + " -L 20:1012700-1020000 --variant " + + b37hapmapGenotypes + " -disc " + testFile + + " -o %s --no_cmdline_in_header -U LENIENT_VCF_PROCESSING", + 1, + Arrays.asList("d88bdae45ae0e74e8d8fd196627e612c") + ); + spec.disableShadowBCF(); + + executeTest("testDiscordanceNoSampleSpecified--" + testFile, spec); + } + + @Test + public void testRepeatedLineSelection() { + String testfile = privateTestDir + "test.dup.vcf"; + + WalkerTestSpec spec = new WalkerTestSpec( + baseTestString(" -sn A -sn B -sn C --variant " + testfile), + 1, + Arrays.asList("3d98a024bf3aecbd282843e0af89d0e6") + ); + + executeTest("testRepeatedLineSelection--" + testfile, spec); + } + + @Test + public void testDiscordance() { + String testFile = privateTestDir + "NA12878.hg19.example1.vcf"; + + WalkerTestSpec spec = new WalkerTestSpec( + "-T SelectVariants -R " + hg19Reference + " -sn NA12878 -L 20:1012700-1020000 --variant " + + b37hapmapGenotypes + " -disc " + testFile + + " -o %s --no_cmdline_in_header -U LENIENT_VCF_PROCESSING", + 1, + Arrays.asList("54289033d35d32b8ebbb38c51fbb614c") + ); + spec.disableShadowBCF(); + + executeTest("testDiscordance--" + testFile, spec); } @Test @@ -16,88 +62,67 @@ public class SelectVariantsIntegrationTest extends WalkerTest { String samplesFile = validationDataLocation + "SelectVariants.samples.txt"; WalkerTestSpec spec = new WalkerTestSpec( - baseTestString(" -sn A -se '[CDH]' -sf " + samplesFile + " -env -ef -select 'DP < 250' --variant " + testfile), - 1, - Arrays.asList("d18516c1963802e92cb9e425c0b75fd6") + baseTestString(" -sn A -se '[CDH]' -sf " + samplesFile + " -env -ef -select 'DP < 250' --variant " + testfile), + 1, + Arrays.asList("4386fbb258dcef4437495a37f5a83c53") ); - + spec.disableShadowBCF(); executeTest("testComplexSelection--" + testfile, spec); } + @Test + public void testNonExistingFieldSelection() { + String testfile = validationDataLocation + "test.filtered.maf_annotated.vcf"; + + WalkerTestSpec spec = new WalkerTestSpec( + baseTestString(" -env -ef -select 'foo!=0||DP>0' --variant " + testfile), + 1, + Arrays.asList("44e77cea624cfff2b8acc3a4b30485cb") // should yield empty vcf because the foo!=0 will yield complete expression false + ); + spec.disableShadowBCF(); + executeTest("testNonExistingSelection--" + testfile, spec); + } + @Test public void testSampleExclusion() { String testfile = validationDataLocation + "test.filtered.maf_annotated.vcf"; String samplesFile = validationDataLocation + "SelectVariants.samples.txt"; WalkerTestSpec spec = new WalkerTestSpec( - "-T SelectVariants -R " + b36KGReference + " -L 1:1-1000000 -o %s -NO_HEADER -xl_sn A -xl_sf " + samplesFile + " --variant " + testfile, - 1, - Arrays.asList("730f021fd6ecf1d195dabbee2e233bfd") + "-T SelectVariants -R " + b36KGReference + " -L 1:1-1000000 -o %s --no_cmdline_in_header -xl_sn A -xl_sf " + samplesFile + " --variant " + testfile, + 1, + Arrays.asList("1f5c72951a35667c4bdf1be153787e27") ); + spec.disableShadowBCF(); executeTest("testSampleExclusion--" + testfile, spec); } - @Test - public void testRepeatedLineSelection() { - String testfile = validationDataLocation + "test.dup.vcf"; - - WalkerTestSpec spec = new WalkerTestSpec( - baseTestString(" -sn A -sn B -sn C --variant " + testfile), - 1, - Arrays.asList("5085a2f8cddfeae9f6274f905025184f") - ); - - executeTest("testRepeatedLineSelection--" + testfile, spec); - } - - @Test - public void testDiscordance() { - String testFile = validationDataLocation + "NA12878.hg19.example1.vcf"; - - WalkerTestSpec spec = new WalkerTestSpec( - "-T SelectVariants -R " + hg19Reference + " -sn NA12878 -L 20:1012700-1020000 --variant " + b37hapmapGenotypes + " -disc " + testFile + " -o %s -NO_HEADER", - 1, - Arrays.asList("929bbb96381541c162dc7e5462e26ea2") - ); - - executeTest("testDiscordance--" + testFile, spec); - } - - @Test - public void testDiscordanceNoSampleSpecified() { - String testFile = validationDataLocation + "NA12878.hg19.example1.vcf"; - - WalkerTestSpec spec = new WalkerTestSpec( - "-T SelectVariants -R " + hg19Reference + " -L 20:1012700-1020000 --variant " + b37hapmapGenotypes + " -disc " + testFile + " -o %s -NO_HEADER", - 1, - Arrays.asList("5d7d899c0c4954ec59104aebfe4addd5") - ); - - executeTest("testDiscordanceNoSampleSpecified--" + testFile, spec); - } @Test public void testConcordance() { - String testFile = validationDataLocation + "NA12878.hg19.example1.vcf"; + String testFile = privateTestDir + "NA12878.hg19.example1.vcf"; WalkerTestSpec spec = new WalkerTestSpec( - "-T SelectVariants -R " + hg19Reference + " -sn NA12878 -L 20:1012700-1020000 -conc " + b37hapmapGenotypes + " --variant " + testFile + " -o %s -NO_HEADER", + "-T SelectVariants -R " + hg19Reference + " -sn NA12878 -L 20:1012700-1020000 -conc " + + b37hapmapGenotypes + " --variant " + testFile + + " -o %s --no_cmdline_in_header -U LENIENT_VCF_PROCESSING", 1, - Arrays.asList("d2ba3ea30a810f6f0fbfb1b643292b6a") + Arrays.asList("946e7f2e0ae08dc0e931c1634360fc46") ); + spec.disableShadowBCF(); executeTest("testConcordance--" + testFile, spec); } @Test public void testVariantTypeSelection() { - String testFile = validationDataLocation + "complexExample1.vcf"; + String testFile = privateTestDir + "complexExample1.vcf"; WalkerTestSpec spec = new WalkerTestSpec( - "-T SelectVariants -R " + b36KGReference + " -restrictAllelesTo MULTIALLELIC -selectType MIXED --variant " + testFile + " -o %s -NO_HEADER", + "-T SelectVariants -R " + b36KGReference + " -restrictAllelesTo MULTIALLELIC -selectType MIXED --variant " + testFile + " -o %s --no_cmdline_in_header", 1, - Arrays.asList("e0b12c0b47a8a7a988b3587b47bfa8cf") + Arrays.asList("ca2b70e3171420b08b0a2659bfe2a794") ); executeTest("testVariantTypeSelection--" + testFile, spec); @@ -105,74 +130,89 @@ public class SelectVariantsIntegrationTest extends WalkerTest { @Test public void testUsingDbsnpName() { - String testFile = validationDataLocation + "combine.3.vcf"; + String testFile = privateTestDir + "combine.3.vcf"; WalkerTestSpec spec = new WalkerTestSpec( - "-T SelectVariants -R " + b36KGReference + " -sn NA12892 --variant:dbsnp " + testFile + " -o %s -NO_HEADER", + "-T SelectVariants -R " + b36KGReference + " -sn NA12892 --variant:dbsnp " + testFile + " -o %s --no_cmdline_in_header", 1, - Arrays.asList("167a1265df820978a74c267df44d5c43") + Arrays.asList("d12ae1617deb38f5ed712dc326935b9a") ); executeTest("testUsingDbsnpName--" + testFile, spec); } @Test - public void testMultipleRecordsAtOnePosition() { - String testFile = validationDataLocation + "selectVariants.onePosition.vcf"; + public void testRegenotype() { + String testFile = privateTestDir + "combine.3.vcf"; WalkerTestSpec spec = new WalkerTestSpec( - "-T SelectVariants -R " + b36KGReference + " -select 'KG_FREQ < 0.5' --variant " + testFile + " -o %s -NO_HEADER", + "-T SelectVariants -R " + b36KGReference + " -regenotype -sn NA12892 --variant " + testFile + " -o %s --no_cmdline_in_header", 1, - Arrays.asList("20b52c96f5c48258494d072752b53693") + Arrays.asList("c22ad8864d9951403672a24c20d6c3c2") ); - executeTest("testMultipleRecordsAtOnePositionFirstIsFiltered--" + testFile, spec); + executeTest("testRegenotype--" + testFile, spec); + } + + @Test + public void testMultipleRecordsAtOnePosition() { + String testFile = privateTestDir + "selectVariants.onePosition.vcf"; + + WalkerTestSpec spec = new WalkerTestSpec( + "-T SelectVariants -R " + b36KGReference + " -select 'KG_FREQ < 0.5' --variant " + testFile + " -o %s --no_cmdline_in_header", + 1, + Arrays.asList("44f7c47395ca5b2afef5313f592c8cea") + ); + + executeTest("testMultipleRecordsAtOnePosition--" + testFile, spec); } @Test public void testNoGTs() { - String testFile = validationDataLocation + "vcf4.1.example.vcf"; + String testFile = privateTestDir + "vcf4.1.example.vcf"; WalkerTestSpec spec = new WalkerTestSpec( - "-T SelectVariants -R " + b37KGReference + " --variant " + testFile + " -o %s -NO_HEADER", + "-T SelectVariants -R " + b37KGReference + " --variant " + testFile + " -o %s --no_cmdline_in_header", 1, - Arrays.asList("f17885e5cbd5387edb99112047ea43c1") + Arrays.asList("ef3c5f75074a5dd2b2cd2715856a2542") ); - executeTest("testMultipleRecordsAtOnePositionFirstIsFiltered--" + testFile, spec); - } - - @Test - public void testParallelization() { - String testfile = validationDataLocation + "test.filtered.maf_annotated.vcf"; - String samplesFile = validationDataLocation + "SelectVariants.samples.txt"; - WalkerTestSpec spec; - - spec = new WalkerTestSpec( - baseTestString(" -sn A -se '[CDH]' -sf " + samplesFile + " -env -ef -select 'DP < 250' --variant " + testfile + " -nt 2"), - 1, - Arrays.asList("d18516c1963802e92cb9e425c0b75fd6") - ); - executeTest("testParallelization (2 threads)--" + testfile, spec); - - spec = new WalkerTestSpec( - baseTestString(" -sn A -se '[CDH]' -sf " + samplesFile + " -env -ef -select 'DP < 250' --variant " + testfile + " -nt 4"), - 1, - Arrays.asList("d18516c1963802e92cb9e425c0b75fd6") - ); - - executeTest("testParallelization (4 threads)--" + testfile, spec); + executeTest("testNoGTs--" + testFile, spec); } @Test public void testSelectFromMultiAllelic() { - String testfile = validationDataLocation + "multi-allelic.bi-allelicInGIH.vcf"; - String samplesFile = validationDataLocation + "GIH.samples.list"; + String testfile = privateTestDir + "multi-allelic.bi-allelicInGIH.vcf"; + String samplesFile = privateTestDir + "GIH.samples.list"; WalkerTestSpec spec = new WalkerTestSpec( - "-T SelectVariants -R " + b37KGReference + " -o %s -NO_HEADER -sf " + samplesFile + " --excludeNonVariants --variant " + testfile, + "-T SelectVariants -R " + b37KGReference + " -o %s --no_cmdline_in_header -sf " + samplesFile + " --excludeNonVariants --variant " + testfile, 1, - Arrays.asList("3fb50cc1c955491048108956d7087c35") + Arrays.asList("3ab35d5e81a29fb5db3e2add11c7e823") ); executeTest("test select from multi allelic with excludeNonVariants --" + testfile, spec); } + + @Test() + public void testFileWithoutInfoLineInHeader() { + testFileWithoutInfoLineInHeader("testFileWithoutInfoLineInHeader", UserException.class); + } + + @Test() + public void testFileWithoutInfoLineInHeaderWithOverride() { + testFileWithoutInfoLineInHeader("testFileWithoutInfoLineInHeaderWithOverride", null); + } + + private void testFileWithoutInfoLineInHeader(final String name, final Class expectedException) { + final String testFile = privateTestDir + "missingHeaderLine.vcf"; + final String cmd = "-T SelectVariants -R " + b36KGReference + " -sn NA12892 --variant:dbsnp " + + testFile + " -o %s --no_cmdline_in_header" + + (expectedException == null ? " -U LENIENT_VCF_PROCESSING" : ""); + WalkerTestSpec spec = + expectedException != null + ? new WalkerTestSpec(cmd, 1, expectedException) + : new WalkerTestSpec(cmd, 1, Arrays.asList("")); + spec.disableShadowBCF(); + + executeTest(name, spec); + } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariantsParallelIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariantsParallelIntegrationTest.java new file mode 100755 index 000000000..ff3982d24 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariantsParallelIntegrationTest.java @@ -0,0 +1,59 @@ +package org.broadinstitute.sting.gatk.walkers.variantutils; + +import org.broadinstitute.sting.WalkerTest; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.Arrays; + +public class SelectVariantsParallelIntegrationTest extends WalkerTest { + + private class ParallelSelectTestProvider extends TestDataProvider { + final String reference; + final String args; + final String md5; + final int nt; + + private ParallelSelectTestProvider(final String reference, final String args, final String md5, final int nt) { + super(ParallelSelectTestProvider.class); + this.reference = reference; + this.args = args; + this.md5 = md5; + this.nt = nt; + } + + public final String getCmdLine() { + return "-T SelectVariants -R " + reference + " -o %s -L 1 --no_cmdline_in_header -nt " + nt + " " + args; + } + + public String toString() { + return String.format("ParallelSelectVariants nt=%d args=%s", nt, args); + } + } + + @DataProvider(name = "ParallelSelectTest") + public Object[][] makeParallelSelectTestProvider() { + for ( int nt : Arrays.asList(1, 2, 4) ) { + { // original MAF test + String testfile = validationDataLocation + "test.filtered.maf_annotated.vcf"; + String samplesFile = validationDataLocation + "SelectVariants.samples.txt"; + String args = " -sn A -se '[CDH]' -sf " + samplesFile + " -env -ef -select 'DP < 250' --variant " + testfile; + new ParallelSelectTestProvider(b36KGReference, args, "4386fbb258dcef4437495a37f5a83c53", nt); + } + { // new tests on b37 using testdir VCF + final String testfile = privateTestDir + "NA12878.hg19.example1.vcf"; + final String args = "-select 'DP > 30' -V " + testfile; + new ParallelSelectTestProvider(b37KGReference, args, "c64b45a14d41b1e5cddbe036b47e7519", nt); + } + } + + return ParallelSelectTestProvider.getTests(ParallelSelectTestProvider.class); + } + + @Test(dataProvider = "ParallelSelectTest") + public void testParallelSelectTestProvider(final ParallelSelectTestProvider cfg) { + final WalkerTestSpec spec = new WalkerTestSpec( cfg.getCmdLine(), 1, Arrays.asList(cfg.md5) ); + executeTest(cfg.toString(), spec); + } +} diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VCFStreamingIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VCFStreamingIntegrationTest.java index a3dae8432..2b917ae0c 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VCFStreamingIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VCFStreamingIntegrationTest.java @@ -46,7 +46,7 @@ public class VCFStreamingIntegrationTest extends WalkerTest { // Copy VCF data from the test file into the FIFO. - String testFile = validationDataLocation + "yri.trio.gatk.ug.head.vcf"; + String testFile = privateTestDir + "yri.trio.gatk.ug.head.vcf"; FileInputStream inputStream = new FileInputStream(testFile); FileOutputStream outputStream = new FileOutputStream(tmpFifo); outputStream.getChannel().transferFrom(inputStream.getChannel(),0,inputStream.getChannel().size()); @@ -56,11 +56,11 @@ public class VCFStreamingIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec( "-T SelectVariants" + " -R " + b36KGReference + - " --variant:vcf3,storage=STREAM " + tmpFifo.getAbsolutePath() + - " --NO_HEADER" + + " --variant:VCF,storage=STREAM " + tmpFifo.getAbsolutePath() + + " --no_cmdline_in_header " + " -o %s", 1, - Arrays.asList("658f580f7a294fd334bd897102616fed") + Arrays.asList("283f434b3efbebb8e10ed6347f97d104") ); executeTest("testSimpleVCFStreaming", spec); @@ -74,14 +74,14 @@ public class VCFStreamingIntegrationTest extends WalkerTest { File tmpFifo = File.createTempFile("vcfstreaming",""); Runtime.getRuntime().exec(new String[] {"mkfifo",tmpFifo.getAbsolutePath()}); - String testFile = validationDataLocation + "yri.trio.gatk.ug.head.vcf"; + String testFile = privateTestDir + "yri.trio.gatk.ug.head.vcf"; // Output select to FIFO WalkerTestSpec selectTestSpec = new WalkerTestSpec( "-T SelectVariants" + " -R " + b36KGReference + - " --variant:vcf3,storage=STREAM " + testFile + - " --NO_HEADER" + + " --variant:VCF,storage=STREAM " + testFile + + " --no_cmdline_in_header" + " -select 'QD > 2.0'" + " -o " + tmpFifo.getAbsolutePath(), 0, @@ -93,12 +93,12 @@ public class VCFStreamingIntegrationTest extends WalkerTest { selectTestSpec = new WalkerTestSpec( "-T VariantEval" + " -R " + b36KGReference + - " --eval:vcf3 " + testFile + + " --eval " + testFile + " --comp:vcf,storage=STREAM " + tmpFifo.getAbsolutePath() + " -EV CompOverlap -noEV -noST" + " -o %s", 1, - Arrays.asList("3212b375b8c440abe436be42ec7e1524") + Arrays.asList("6549744c12de7673fb7812142956c39e") ); executeTest("testVCFStreamingChain", selectTestSpec); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariantsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariantsIntegrationTest.java index 5f71f82fd..3277f5060 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariantsIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariantsIntegrationTest.java @@ -34,7 +34,7 @@ import java.util.Arrays; public class ValidateVariantsIntegrationTest extends WalkerTest { public static String baseTestString(String file, String type) { - return "-T ValidateVariants -R " + b36KGReference + " -L 1:10001292-10001303 --variant:vcf " + validationDataLocation + file + " --validationType " + type; + return "-T ValidateVariants -R " + b36KGReference + " -L 1:10001292-10001303 --variant:vcf " + privateTestDir + file + " --validationType " + type; } @Test diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTableIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTableIntegrationTest.java index 6188f2255..2ffcd02e2 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTableIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTableIntegrationTest.java @@ -33,7 +33,7 @@ import java.util.*; public class VariantsToTableIntegrationTest extends WalkerTest { private String variantsToTableCmd(String moreArgs) { return "-R " + hg18Reference + - " --variant:vcf " + validationDataLocation + "/soap_gatk_annotated.vcf" + + " --variant:vcf " + privateTestDir + "soap_gatk_annotated.vcf" + " -T VariantsToTable" + " -F CHROM -F POS -F ID -F REF -F ALT -F QUAL -F FILTER -F TRANSITION -F DP -F SB -F set -F RankSumP -F refseq.functionalClass*" + " -L chr1 -o %s" + moreArgs; @@ -41,7 +41,7 @@ public class VariantsToTableIntegrationTest extends WalkerTest { private String variantsToTableMultiAllelicCmd(String moreArgs) { return "-R " + b37KGReference + - " --variant " + validationDataLocation + "/multiallelic.vcf" + + " --variant " + privateTestDir + "multiallelic.vcf" + " -T VariantsToTable" + " -F CHROM -F POS -F ID -F REF -F ALT -F QUAL -F MULTI-ALLELIC -F AC -F AF" + " -o %s" + moreArgs; @@ -51,7 +51,7 @@ public class VariantsToTableIntegrationTest extends WalkerTest { public void testComplexVariantsToTable() { WalkerTestSpec spec = new WalkerTestSpec(variantsToTableCmd(" -AMD"), Arrays.asList("e8f771995127b727fb433da91dd4ee98")); - executeTest("testComplexVariantsToTable", spec).getFirst(); + executeTest("testComplexVariantsToTable", spec); } @Test(enabled = true) @@ -64,13 +64,81 @@ public class VariantsToTableIntegrationTest extends WalkerTest { public void testMultiAllelicOneRecord() { WalkerTestSpec spec = new WalkerTestSpec(variantsToTableMultiAllelicCmd(""), Arrays.asList("13dd36c08be6c800f23988e6000d963e")); - executeTest("testMultiAllelicOneRecord", spec).getFirst(); + executeTest("testMultiAllelicOneRecord", spec); } @Test(enabled = true) public void testMultiAllelicSplitRecords() { WalkerTestSpec spec = new WalkerTestSpec(variantsToTableMultiAllelicCmd(" -SMA"), Arrays.asList("17a0fc80409d2fc00ad2bbb94b3a346b")); - executeTest("testMultiAllelicSplitRecords", spec).getFirst(); + executeTest("testMultiAllelicSplitRecords", spec); + } + + @Test(enabled = true) + public void testGenotypeFields() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-R " + b36KGReference + + " --variant " + privateTestDir + "vcfexample2.vcf" + + " -T VariantsToTable" + + " -GF RD" + + " -o %s", + 1, + Arrays.asList("d43562e9b94f0e8e337d38a6829671ee")); + executeTest("testGenotypeFields", spec); + } + + @Test(enabled = true) + public void testGenotypeFieldsWithInline() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-R " + b36KGReference + + " --variant " + privateTestDir + "vcfexample2.vcf" + + " -T VariantsToTable" + + " -GF RD -GF GT -GF GQ" + + " -o %s", + 1, + Arrays.asList("29744059742ae71fd6aabd29e5c391fb")); + executeTest("testGenotypeFieldsWithInline", spec); + } + + @Test(enabled = true) + public void testMoltenOutput() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-R " + b36KGReference + + " --variant " + privateTestDir + "vcfexample2.vcf" + + " -T VariantsToTable" + + " -F CHROM -F POS -F ID -F REF -F ALT -F QUAL -F FILTER" + + " --moltenize" + + " -o %s", + 1, + Arrays.asList("30047a5e78a7f523bd2872ac8baccc0e")); + executeTest("testMoltenOutput", spec); + } + + @Test(enabled = true) + public void testMoltenOutputWithGenotypeFields() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-R " + b36KGReference + + " --variant " + privateTestDir + "vcfexample2.vcf" + + " -T VariantsToTable" + + " -GF RD" + + " --moltenize" + + " -o %s", + 1, + Arrays.asList("1d97fe63c249a995df4ce666382872d8")); + executeTest("testMoltenOutputWithGenotypeFields", spec); + } + + @Test(enabled = true) + public void testMoltenOutputWithMultipleAlleles() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-R " + b37KGReference + + " --variant " + privateTestDir + "multiallelic.vcf" + + " -T VariantsToTable" + + " -F CHROM -F POS -F ID -F REF -F ALT -F QUAL -F MULTI-ALLELIC -F AC -F AF" + + " --moltenize -SMA" + + " -o %s", + 1, + Arrays.asList("c131e2c3cfb673c456cb160bda476101")); + executeTest("testMoltenOutputWithMultipleAlleles", spec); } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCFIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCFIntegrationTest.java index 95fafac8d..b0870b346 100755 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCFIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCFIntegrationTest.java @@ -19,7 +19,7 @@ public class VariantsToVCFIntegrationTest extends WalkerTest { @Test public void testVariantsToVCFUsingDbsnpInput() { List md5 = new ArrayList(); - md5.add("d64942fed2a5b7b407f9537dd2b4832e"); + md5.add("72e6ce7aff7dec7ca9e7580be7ddd435"); WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( "-R " + b36KGReference + @@ -27,7 +27,7 @@ public class VariantsToVCFIntegrationTest extends WalkerTest { " -T VariantsToVCF" + " -L 1:1-30,000,000" + " -o %s" + - " -NO_HEADER", + " --no_cmdline_in_header", 1, // just one output file md5); executeTest("testVariantsToVCFUsingDbsnpInput", spec).getFirst(); @@ -36,7 +36,7 @@ public class VariantsToVCFIntegrationTest extends WalkerTest { @Test public void testVariantsToVCFUsingGeliInput() { List md5 = new ArrayList(); - md5.add("4accae035d271b35ee2ec58f403c68c6"); + md5.add("22373883afa2221b5a4f75a50f30f26b"); WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( "-R " + b36KGReference + @@ -45,7 +45,7 @@ public class VariantsToVCFIntegrationTest extends WalkerTest { " -L 1:10,000,000-11,000,000" + " -sample NA123AB" + " -o %s" + - " -NO_HEADER", + " --no_cmdline_in_header", 1, // just one output file md5); executeTest("testVariantsToVCFUsingGeliInput - calls", spec).getFirst(); @@ -54,7 +54,7 @@ public class VariantsToVCFIntegrationTest extends WalkerTest { @Test public void testGenotypesToVCFUsingGeliInput() { List md5 = new ArrayList(); - md5.add("2413f036ec4100b8d5db179946159a82"); + md5.add("738eb66dbc400dcd1786cd9e49902e8c"); WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( "-R " + b36KGReference + @@ -63,7 +63,7 @@ public class VariantsToVCFIntegrationTest extends WalkerTest { " -L 1:10,100,000-10,200,000" + " -sample NA123AB" + " -o %s" + - " -NO_HEADER", + " --no_cmdline_in_header", 1, // just one output file md5); executeTest("testVariantsToVCFUsingGeliInput - genotypes", spec).getFirst(); @@ -72,7 +72,7 @@ public class VariantsToVCFIntegrationTest extends WalkerTest { @Test public void testGenotypesToVCFUsingHapMapInput() { List md5 = new ArrayList(); - md5.add("f343085305e80c7a2493422e4eaad983"); + md5.add("67656672acc264156f5a3e01e5cac61a"); WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( "-R " + b36KGReference + @@ -80,7 +80,7 @@ public class VariantsToVCFIntegrationTest extends WalkerTest { " -T VariantsToVCF" + " -L 1:1-1,000,000" + " -o %s" + - " -NO_HEADER", + " --no_cmdline_in_header", 1, // just one output file md5); executeTest("testVariantsToVCFUsingHapMapInput", spec).getFirst(); @@ -89,14 +89,14 @@ public class VariantsToVCFIntegrationTest extends WalkerTest { @Test public void testGenotypesToVCFUsingVCFInput() { List md5 = new ArrayList(); - md5.add("86f02e2e764ba35854cff2aa05a1fdd8"); + md5.add("21084d32ce7ac5df3cee1730bfaaf71c"); WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( "-R " + b36KGReference + - " --variant:VCF " + validationDataLocation + "complexExample.vcf4" + + " --variant:VCF " + privateTestDir + "complexExample.vcf4" + " -T VariantsToVCF" + " -o %s" + - " -NO_HEADER", + " --no_cmdline_in_header", 1, // just one output file md5); executeTest("testVariantsToVCFUsingVCFInput", spec).getFirst(); diff --git a/public/java/test/org/broadinstitute/sting/jna/drmaa/v1_0/JnaSessionIntegrationTest.java b/public/java/test/org/broadinstitute/sting/jna/drmaa/v1_0/JnaSessionIntegrationTest.java index f68a96d26..ea7e9746a 100644 --- a/public/java/test/org/broadinstitute/sting/jna/drmaa/v1_0/JnaSessionIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/jna/drmaa/v1_0/JnaSessionIntegrationTest.java @@ -62,7 +62,7 @@ public class JnaSessionIntegrationTest extends BaseTest { return; } - File outFile = createNetworkTempFile("JnaSessionIntegrationTest.out"); + File outFile = tryCreateNetworkTempFile("JnaSessionIntegrationTest.out"); Session session = factory.getSession(); session.init(null); try { diff --git a/public/java/test/org/broadinstitute/sting/jna/drmaa/v1_0/LibDrmaaIntegrationTest.java b/public/java/test/org/broadinstitute/sting/jna/drmaa/v1_0/LibDrmaaIntegrationTest.java index 4c7d4ce06..db737e09a 100644 --- a/public/java/test/org/broadinstitute/sting/jna/drmaa/v1_0/LibDrmaaIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/jna/drmaa/v1_0/LibDrmaaIntegrationTest.java @@ -101,7 +101,7 @@ public class LibDrmaaIntegrationTest extends BaseTest { Memory error = new Memory(LibDrmaa.DRMAA_ERROR_STRING_BUFFER); int errnum; - File outFile = createNetworkTempFile("LibDrmaaIntegrationTest.out"); + File outFile = tryCreateNetworkTempFile("LibDrmaaIntegrationTest.out"); errnum = LibDrmaa.drmaa_init(null, error, LibDrmaa.DRMAA_ERROR_STRING_BUFFER_LEN); diff --git a/public/java/test/org/broadinstitute/sting/jna/lsf/v7_0_6/LibBatIntegrationTest.java b/public/java/test/org/broadinstitute/sting/jna/lsf/v7_0_6/LibBatIntegrationTest.java index 21339eb46..4f31bba47 100644 --- a/public/java/test/org/broadinstitute/sting/jna/lsf/v7_0_6/LibBatIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/jna/lsf/v7_0_6/LibBatIntegrationTest.java @@ -93,7 +93,7 @@ public class LibBatIntegrationTest extends BaseTest { @Test public void testSubmitEcho() throws Exception { String queue = "hour"; - File outFile = createNetworkTempFile("LibBatIntegrationTest.out"); + File outFile = tryCreateNetworkTempFile("LibBatIntegrationTest.out"); submit req = new submit(); diff --git a/public/java/test/org/broadinstitute/sting/utils/BitSetUtilsUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/BitSetUtilsUnitTest.java index 94e2dbf54..32fe7597d 100644 --- a/public/java/test/org/broadinstitute/sting/utils/BitSetUtilsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/BitSetUtilsUnitTest.java @@ -45,31 +45,16 @@ public class BitSetUtilsUnitTest { } } - @Test(enabled = true) + @Test(enabled = false) public void testDNAAndBitSetConversion() { String[] dna = {"AGGTGTTGT", "CCCCCCCCCCCCCC", "GGGGGGGGGGGGGG", "TTTTTTTTTTTTTT", "GTAGACCGATCTCAGCTAGT", "AACGTCAATGCAGTCAAGTCAGACGTGGGTT", "TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT", "TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT"}; // Test all contexts of size 1-8. - for (long n = 0; n < RANDOM_NUMBERS_TO_TRY; n++) - Assert.assertEquals(BitSetUtils.longFrom(BitSetUtils.bitSetFrom(BitSetUtils.dnaFrom(BitSetUtils.bitSetFrom(n)))), n); + //for (long n = 0; n < RANDOM_NUMBERS_TO_TRY; n++) + // Assert.assertEquals(BitSetUtils.longFrom(BitSetUtils.bitSetFrom(ContextCovariate.contextFromKey(BitSetUtils.bitSetFrom(n)))), n); // Test the special cases listed in the dna array - for (String d : dna) - Assert.assertEquals(BitSetUtils.dnaFrom(BitSetUtils.bitSetFrom(d)), d); - } - - @Test(enabled = true) - public void testNumberOfBitsToRepresent() { - Assert.assertEquals(BitSetUtils.numberOfBitsToRepresent(0), 0); // Make sure 0 elements need 0 bits to be represented - Assert.assertEquals(BitSetUtils.numberOfBitsToRepresent(1), 1); // Make sure 1 element needs 1 bit to be represented - Assert.assertEquals(BitSetUtils.numberOfBitsToRepresent(3), 2); // Make sure 3 elements need 2 bit to be represented - - for (int i = 1; i < 63; i++) { // Can't test i == 63 because n1 is a negative number - long n1 = 1L << i; - long n2 = Math.abs(random.nextLong()) % n1; - long n3 = n1 | n2; - Assert.assertEquals(BitSetUtils.numberOfBitsToRepresent(n3), (n3 == n1) ? i : i + 1); - Assert.assertEquals(BitSetUtils.numberOfBitsToRepresent(n1), i); - } + //for (String d : dna) + // Assert.assertEquals(BitSetUtils.dnaFrom(BitSetUtils.bitSetFrom(d)), d); } } diff --git a/public/java/test/org/broadinstitute/sting/utils/HaplotypeUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/HaplotypeUnitTest.java index 87852f9ca..ec08d97c5 100644 --- a/public/java/test/org/broadinstitute/sting/utils/HaplotypeUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/HaplotypeUnitTest.java @@ -154,7 +154,7 @@ public class HaplotypeUnitTest extends BaseTest { final Allele h1altAllele = Allele.create(alt, false); h.setAlignmentStartHapwrtRef(0); h.setCigar(cigar); - final Haplotype h1 = new Haplotype( h.insertAllele(h1refAllele, h1altAllele, loc - INDEL_PADDING_BASE) ); + final Haplotype h1 = h.insertAllele(h1refAllele, h1altAllele, loc - INDEL_PADDING_BASE); final Haplotype h1expected = new Haplotype(newHap.getBytes()); Assert.assertEquals(h1, h1expected); } diff --git a/public/java/test/org/broadinstitute/sting/MedianUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/MedianUnitTest.java similarity index 97% rename from public/java/test/org/broadinstitute/sting/MedianUnitTest.java rename to public/java/test/org/broadinstitute/sting/utils/MedianUnitTest.java index db89aee78..08953ba13 100644 --- a/public/java/test/org/broadinstitute/sting/MedianUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/MedianUnitTest.java @@ -23,15 +23,14 @@ */ // our package -package org.broadinstitute.sting; +package org.broadinstitute.sting.utils; // the imports for unit testing. -import org.broadinstitute.sting.utils.Median; +import org.broadinstitute.sting.BaseTest; import org.testng.Assert; -import org.testng.annotations.BeforeSuite; import org.testng.annotations.DataProvider; import org.testng.annotations.Test; diff --git a/public/java/test/org/broadinstitute/sting/utils/clipping/ReadClipperTestUtils.java b/public/java/test/org/broadinstitute/sting/utils/clipping/ReadClipperTestUtils.java index 16b141bc3..baa2f6218 100644 --- a/public/java/test/org/broadinstitute/sting/utils/clipping/ReadClipperTestUtils.java +++ b/public/java/test/org/broadinstitute/sting/utils/clipping/ReadClipperTestUtils.java @@ -84,14 +84,14 @@ public class ReadClipperTestUtils { } private static boolean isCigarValid(Cigar cigar) { - if (cigar.isValid(null, -1) == null) { // This should take care of most invalid Cigar Strings (picard's "exhaustive" implementation) + if (cigar.isValid(null, -1) == null) { // This should take care of most invalid Cigar Strings (picard's "exhaustive" implementation) - Stack cigarElementStack = new Stack(); // Stack to invert cigar string to find ending operator + Stack cigarElementStack = new Stack(); // Stack to invert cigar string to find ending operator CigarOperator startingOp = null; CigarOperator endingOp = null; // check if it doesn't start with deletions - boolean readHasStarted = false; // search the list of elements for the starting operator + boolean readHasStarted = false; // search the list of elements for the starting operator for (CigarElement cigarElement : cigar.getCigarElements()) { if (!readHasStarted) { if (cigarElement.getOperator() != CigarOperator.SOFT_CLIP && cigarElement.getOperator() != CigarOperator.HARD_CLIP) { @@ -102,19 +102,16 @@ public class ReadClipperTestUtils { cigarElementStack.push(cigarElement); } - readHasStarted = false; // search the inverted list of elements (stack) for the stopping operator while (!cigarElementStack.empty()) { CigarElement cigarElement = cigarElementStack.pop(); if (cigarElement.getOperator() != CigarOperator.SOFT_CLIP && cigarElement.getOperator() != CigarOperator.HARD_CLIP) { - readHasStarted = true; endingOp = cigarElement.getOperator(); break; } } -// if (startingOp != CigarOperator.DELETION && endingOp != CigarOperator.DELETION && startingOp != CigarOperator.INSERTION && endingOp != CigarOperator.INSERTION) if (startingOp != CigarOperator.DELETION && endingOp != CigarOperator.DELETION) - return true; // we don't accept reads starting or ending in deletions (add any other constraint here) + return true; // we don't accept reads starting or ending in deletions (add any other constraint here) } return false; diff --git a/public/java/test/org/broadinstitute/sting/utils/clipping/ReadClipperUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/clipping/ReadClipperUnitTest.java index bc918c0a4..22989b328 100644 --- a/public/java/test/org/broadinstitute/sting/utils/clipping/ReadClipperUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/clipping/ReadClipperUnitTest.java @@ -45,7 +45,7 @@ import java.util.List; public class ReadClipperUnitTest extends BaseTest { List cigarList; - int maximumCigarSize = 6; // 6 is the minimum necessary number to try all combinations of cigar types with guarantee of clipping an element with length = 2 + int maximumCigarSize = 6; // 6 is the minimum necessary number to try all combinations of cigar types with guarantee of clipping an element with length = 2 @BeforeClass public void init() { @@ -92,22 +92,15 @@ public class ReadClipperUnitTest extends BaseTest { int start = read.getSoftStart(); int stop = read.getSoftEnd(); -// System.out.println(String.format("CIGAR: %s (%d, %d)", cigar.toString(), start, stop)); - -// if (ReadUtils.readIsEntirelyInsertion(read)) -// System.out.println("debug"); - for (int i = start; i <= stop; i++) { GATKSAMRecord clipLeft = (new ReadClipper(read)).hardClipByReferenceCoordinates(-1, i); if (!clipLeft.isEmpty()) { -// System.out.println(String.format("\t left [%d] %s -> %s ", i-start+1, cigar.toString(), clipLeft.getCigarString())); Assert.assertTrue(clipLeft.getAlignmentStart() >= Math.min(read.getAlignmentEnd(), i + 1), String.format("Clipped alignment start (%d) is less the expected (%d): %s -> %s", clipLeft.getAlignmentStart(), i + 1, read.getCigarString(), clipLeft.getCigarString())); assertUnclippedLimits(read, clipLeft); } GATKSAMRecord clipRight = (new ReadClipper(read)).hardClipByReferenceCoordinates(i, -1); - if (!clipRight.isEmpty() && clipRight.getAlignmentStart() <= clipRight.getAlignmentEnd()) { // alnStart > alnEnd if the entire read is a soft clip now. We can't test those. -// System.out.println(String.format("\t right [%d] %s -> %s ", i-start+1, cigar.toString(), clipRight.getCigarString())); + if (!clipRight.isEmpty() && clipRight.getAlignmentStart() <= clipRight.getAlignmentEnd()) { // alnStart > alnEnd if the entire read is a soft clip now. We can't test those. Assert.assertTrue(clipRight.getAlignmentEnd() <= Math.max(read.getAlignmentStart(), i - 1), String.format("Clipped alignment end (%d) is greater than expected (%d): %s -> %s", clipRight.getAlignmentEnd(), i - 1, read.getCigarString(), clipRight.getCigarString())); assertUnclippedLimits(read, clipRight); } @@ -121,12 +114,11 @@ public class ReadClipperUnitTest extends BaseTest { GATKSAMRecord read = ReadClipperTestUtils.makeReadFromCigar(cigar); int alnStart = read.getAlignmentStart(); int alnEnd = read.getAlignmentEnd(); - if (read.getSoftStart() == alnStart) { // we can't test left clipping if the read has hanging soft clips on the left side + if (read.getSoftStart() == alnStart) { // we can't test left clipping if the read has hanging soft clips on the left side for (int i = alnStart; i <= alnEnd; i++) { GATKSAMRecord clipLeft = ReadClipper.hardClipByReferenceCoordinatesLeftTail(read, i); if (!clipLeft.isEmpty()) { -// System.out.println(String.format("Left Tail [%d]: %s (%d,%d,%d : %d,%d,%d) -> %s (%d,%d,%d : %d,%d,%d)", i, cigar.toString(), read.getUnclippedStart(), read.getSoftStart(), read.getAlignmentStart(), read.getAlignmentEnd(), read.getSoftEnd(), read.getUnclippedEnd(), clipLeft.getCigarString(), clipLeft.getUnclippedStart(), clipLeft.getSoftStart(), clipLeft.getAlignmentStart(), clipLeft.getAlignmentEnd(), clipLeft.getSoftEnd(), clipLeft.getUnclippedEnd())); Assert.assertTrue(clipLeft.getAlignmentStart() >= i + 1, String.format("Clipped alignment start (%d) is less the expected (%d): %s -> %s", clipLeft.getAlignmentStart(), i + 1, read.getCigarString(), clipLeft.getCigarString())); assertUnclippedLimits(read, clipLeft); } @@ -141,10 +133,10 @@ public class ReadClipperUnitTest extends BaseTest { GATKSAMRecord read = ReadClipperTestUtils.makeReadFromCigar(cigar); int alnStart = read.getAlignmentStart(); int alnEnd = read.getAlignmentEnd(); - if (read.getSoftEnd() == alnEnd) { // we can't test right clipping if the read has hanging soft clips on the right side + if (read.getSoftEnd() == alnEnd) { // we can't test right clipping if the read has hanging soft clips on the right side for (int i = alnStart; i <= alnEnd; i++) { GATKSAMRecord clipRight = ReadClipper.hardClipByReferenceCoordinatesRightTail(read, i); - if (!clipRight.isEmpty() && clipRight.getAlignmentStart() <= clipRight.getAlignmentEnd()) { // alnStart > alnEnd if the entire read is a soft clip now. We can't test those. + if (!clipRight.isEmpty() && clipRight.getAlignmentStart() <= clipRight.getAlignmentEnd()) { // alnStart > alnEnd if the entire read is a soft clip now. We can't test those. Assert.assertTrue(clipRight.getAlignmentEnd() <= i - 1, String.format("Clipped alignment end (%d) is greater than expected (%d): %s -> %s", clipRight.getAlignmentEnd(), i - 1, read.getCigarString(), clipRight.getCigarString())); assertUnclippedLimits(read, clipRight); } @@ -158,51 +150,40 @@ public class ReadClipperUnitTest extends BaseTest { final byte LOW_QUAL = 2; final byte HIGH_QUAL = 30; - // create a read for every cigar permutation + /** create a read for every cigar permutation */ for (Cigar cigar : cigarList) { GATKSAMRecord read = ReadClipperTestUtils.makeReadFromCigar(cigar); int readLength = read.getReadLength(); byte[] quals = new byte[readLength]; for (int nLowQualBases = 0; nLowQualBases < readLength; nLowQualBases++) { - Utils.fillArrayWithByte(quals, HIGH_QUAL); // create a read with nLowQualBases in the left tail + + /** create a read with nLowQualBases in the left tail */ + Utils.fillArrayWithByte(quals, HIGH_QUAL); for (int addLeft = 0; addLeft < nLowQualBases; addLeft++) quals[addLeft] = LOW_QUAL; read.setBaseQualities(quals); GATKSAMRecord clipLeft = ReadClipper.hardClipLowQualEnds(read, LOW_QUAL); + checkClippedReadsForLowQualEnds(read, clipLeft, LOW_QUAL, nLowQualBases); - assertUnclippedLimits(read, clipLeft); // Make sure limits haven't changed - assertNoLowQualBases(clipLeft, LOW_QUAL); // Make sure the low qualities are gone - Assert.assertEquals(clipLeft.getReadLength(), readLength - nLowQualBases, // Make sure only low quality bases were clipped - String.format("Clipped read size (%d) is different than the number high qual bases (%d) -- Cigars: %s -> %s", clipLeft.getReadLength(), readLength - nLowQualBases, read.getCigarString(), clipLeft.getCigarString())); - - - Utils.fillArrayWithByte(quals, HIGH_QUAL); // create a read with nLowQualBases in the right tail + /** create a read with nLowQualBases in the right tail */ + Utils.fillArrayWithByte(quals, HIGH_QUAL); for (int addRight = 0; addRight < nLowQualBases; addRight++) quals[readLength - addRight - 1] = LOW_QUAL; read.setBaseQualities(quals); GATKSAMRecord clipRight = ReadClipper.hardClipLowQualEnds(read, LOW_QUAL); + checkClippedReadsForLowQualEnds(read, clipRight, LOW_QUAL, nLowQualBases); -// System.out.println(String.format("Debug [%d]: %s -> %s / %s", nLowQualBases, cigar.toString(), clipLeft.getCigarString(), clipRight.getCigarString())); - - assertUnclippedLimits(read, clipRight); // Make sure limits haven't changed - assertNoLowQualBases(clipRight, LOW_QUAL); // Make sure the low qualities are gone - Assert.assertEquals(clipLeft.getReadLength(), readLength - nLowQualBases, // Make sure only low quality bases were clipped - String.format("Clipped read size (%d) is different than the number high qual bases (%d) -- Cigars: %s -> %s", clipRight.getReadLength(), readLength - nLowQualBases, read.getCigarString(), clipRight.getCigarString())); - + /** create a read with nLowQualBases on both tails */ if (nLowQualBases <= readLength / 2) { - Utils.fillArrayWithByte(quals, HIGH_QUAL); // create a read with nLowQualBases on both tails + Utils.fillArrayWithByte(quals, HIGH_QUAL); for (int addBoth = 0; addBoth < nLowQualBases; addBoth++) { quals[addBoth] = LOW_QUAL; quals[readLength - addBoth - 1] = LOW_QUAL; } read.setBaseQualities(quals); GATKSAMRecord clipBoth = ReadClipper.hardClipLowQualEnds(read, LOW_QUAL); - - assertUnclippedLimits(read, clipBoth); // Make sure limits haven't changed - assertNoLowQualBases(clipBoth, LOW_QUAL); // Make sure the low qualities are gone - Assert.assertEquals(clipLeft.getReadLength(), readLength - nLowQualBases, // Make sure only low quality bases were clipped - String.format("Clipped read size (%d) is different than the number high qual bases (%d) -- Cigars: %s -> %s", clipRight.getReadLength(), readLength - (2 * nLowQualBases), read.getCigarString(), clipBoth.getCigarString())); + checkClippedReadsForLowQualEnds(read, clipBoth, LOW_QUAL, 2*nLowQualBases); } } } @@ -216,8 +197,8 @@ public class ReadClipperUnitTest extends BaseTest { CigarCounter original = new CigarCounter(read); CigarCounter clipped = new CigarCounter(clippedRead); - assertUnclippedLimits(read, clippedRead); // Make sure limits haven't changed - original.assertHardClippingSoftClips(clipped); // Make sure we have only clipped SOFT_CLIPS + assertUnclippedLimits(read, clippedRead); // Make sure limits haven't changed + original.assertHardClippingSoftClips(clipped); // Make sure we have only clipped SOFT_CLIPS } } @@ -252,7 +233,7 @@ public class ReadClipperUnitTest extends BaseTest { final GATKSAMRecord read = ReadClipperTestUtils.makeReadFromCigar(cigar); final GATKSAMRecord unclipped = ReadClipper.revertSoftClippedBases(read); - assertUnclippedLimits(read, unclipped); // Make sure limits haven't changed + assertUnclippedLimits(read, unclipped); // Make sure limits haven't changed if (leadingSoftClips > 0 || tailSoftClips > 0) { final int expectedStart = read.getAlignmentStart() - leadingSoftClips; @@ -265,6 +246,25 @@ public class ReadClipperUnitTest extends BaseTest { } } + @Test(enabled = true) + public void testRevertSoftClippedBasesWithThreshold() { + for (Cigar cigar : cigarList) { + final int leadingSoftClips = leadingCigarElementLength(cigar, CigarOperator.SOFT_CLIP); + final int tailSoftClips = leadingCigarElementLength(ReadClipperTestUtils.invertCigar(cigar), CigarOperator.SOFT_CLIP); + + final GATKSAMRecord read = ReadClipperTestUtils.makeReadFromCigar(cigar); + final GATKSAMRecord unclipped = ReadClipper.revertSoftClippedBases(read); + + assertUnclippedLimits(read, unclipped); // Make sure limits haven't changed + Assert.assertNull(read.getCigar().isValid(null, -1)); + Assert.assertNull(unclipped.getCigar().isValid(null, -1)); + + if (!(leadingSoftClips > 0 || tailSoftClips > 0)) + Assert.assertEquals(read.getCigarString(), unclipped.getCigarString()); + + } + } + private void assertNoLowQualBases(GATKSAMRecord read, byte low_qual) { if (!read.isEmpty()) { @@ -274,11 +274,16 @@ public class ReadClipperUnitTest extends BaseTest { } } + private void checkClippedReadsForLowQualEnds(GATKSAMRecord read, GATKSAMRecord clippedRead, byte lowQual, int nLowQualBases) { + assertUnclippedLimits(read, clippedRead); // Make sure limits haven't changed + assertNoLowQualBases(clippedRead, lowQual); // Make sure the low qualities are gone + } + /** * Asserts that clipping doesn't change the getUnclippedStart / getUnclippedEnd * - * @param original - * @param clipped + * @param original original read + * @param clipped clipped read */ private void assertUnclippedLimits(GATKSAMRecord original, GATKSAMRecord clipped) { if (ReadClipperTestUtils.readHasNonClippedBases(clipped)) { diff --git a/public/java/test/org/broadinstitute/sting/utils/codecs/bcf2/BCF2EncoderDecoderUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/codecs/bcf2/BCF2EncoderDecoderUnitTest.java new file mode 100644 index 000000000..a0feef186 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/utils/codecs/bcf2/BCF2EncoderDecoderUnitTest.java @@ -0,0 +1,576 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +// our package +package org.broadinstitute.sting.utils.codecs.bcf2; + + +// the imports for unit testing. + + +import org.apache.commons.lang.ArrayUtils; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.variantcontext.writer.BCF2Encoder; +import org.testng.Assert; +import org.testng.annotations.BeforeSuite; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.io.ByteArrayInputStream; +import java.io.ByteArrayOutputStream; +import java.io.IOException; +import java.io.InputStream; +import java.util.ArrayList; +import java.util.Arrays; +import java.util.Collections; +import java.util.List; + + +public class BCF2EncoderDecoderUnitTest extends BaseTest { + private final double FLOAT_TOLERANCE = 1e-6; + final List primitives = new ArrayList(); + final List basicTypes = new ArrayList(); + final List forCombinations = new ArrayList(); + + @BeforeSuite + public void before() { + basicTypes.add(new BCF2TypedValue(1, BCF2Type.INT8)); + basicTypes.add(new BCF2TypedValue(1000, BCF2Type.INT16)); + basicTypes.add(new BCF2TypedValue(1000000, BCF2Type.INT32)); + basicTypes.add(new BCF2TypedValue(1.2345e6, BCF2Type.FLOAT)); + basicTypes.add(new BCF2TypedValue("A", BCF2Type.CHAR)); + + // small ints + primitives.add(new BCF2TypedValue(0, BCF2Type.INT8)); + primitives.add(new BCF2TypedValue(10, BCF2Type.INT8)); + primitives.add(new BCF2TypedValue(-1, BCF2Type.INT8)); + primitives.add(new BCF2TypedValue(100, BCF2Type.INT8)); + primitives.add(new BCF2TypedValue(-100, BCF2Type.INT8)); + primitives.add(new BCF2TypedValue(-127, BCF2Type.INT8)); // last value in range + primitives.add(new BCF2TypedValue( 127, BCF2Type.INT8)); // last value in range + + // medium ints + primitives.add(new BCF2TypedValue(-1000, BCF2Type.INT16)); + primitives.add(new BCF2TypedValue(1000, BCF2Type.INT16)); + primitives.add(new BCF2TypedValue(-128, BCF2Type.INT16)); // first value in range + primitives.add(new BCF2TypedValue( 128, BCF2Type.INT16)); // first value in range + primitives.add(new BCF2TypedValue(-32767, BCF2Type.INT16)); // last value in range + primitives.add(new BCF2TypedValue( 32767, BCF2Type.INT16)); // last value in range + + // larger ints + primitives.add(new BCF2TypedValue(-32768, BCF2Type.INT32)); // first value in range + primitives.add(new BCF2TypedValue( 32768, BCF2Type.INT32)); // first value in range + primitives.add(new BCF2TypedValue(-100000, BCF2Type.INT32)); + primitives.add(new BCF2TypedValue(100000, BCF2Type.INT32)); + primitives.add(new BCF2TypedValue(-2147483647, BCF2Type.INT32)); + primitives.add(new BCF2TypedValue(2147483647, BCF2Type.INT32)); + + // floats + primitives.add(new BCF2TypedValue(0.0, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(-0.0, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(1.0, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(-1.0, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(1.1, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(-1.1, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(5.0 / 3.0, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(-5.0 / 3.0, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(1.23e3, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(1.23e6, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(1.23e9, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(1.23e12, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(1.23e15, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(-1.23e3, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(-1.23e6, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(-1.23e9, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(-1.23e12, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(-1.23e15, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(Float.MIN_VALUE, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(Float.MAX_VALUE, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(Double.NEGATIVE_INFINITY, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(Double.POSITIVE_INFINITY, BCF2Type.FLOAT)); + primitives.add(new BCF2TypedValue(Double.NaN, BCF2Type.FLOAT)); + + // strings + //primitives.add(new BCF2TypedValue("", BCFType.CHAR)); <- will be null (which is right) + primitives.add(new BCF2TypedValue("S", BCF2Type.CHAR)); + primitives.add(new BCF2TypedValue("S2", BCF2Type.CHAR)); + primitives.add(new BCF2TypedValue("12345678910", BCF2Type.CHAR)); + primitives.add(new BCF2TypedValue("ABCDEFGHIJKLMNOPQRSTUVWXYZ", BCF2Type.CHAR)); + primitives.add(new BCF2TypedValue("ABCDEFGHIJKLMNOPQRSTUVWXYZABCDEFGHIJKLMNOPQRSTUVWXYZABCDEFGHIJKLMNOPQRSTUVWXYZ", BCF2Type.CHAR)); + + // missing values + for ( BCF2Type type : BCF2Type.values() ) { + primitives.add(new BCF2TypedValue(null, type)); + } + + forCombinations.add(new BCF2TypedValue(10, BCF2Type.INT8)); + forCombinations.add(new BCF2TypedValue(100, BCF2Type.INT8)); + forCombinations.add(new BCF2TypedValue(-100, BCF2Type.INT8)); + forCombinations.add(new BCF2TypedValue(-128, BCF2Type.INT16)); // first value in range + forCombinations.add(new BCF2TypedValue( 128, BCF2Type.INT16)); // first value in range + forCombinations.add(new BCF2TypedValue(-100000, BCF2Type.INT32)); + forCombinations.add(new BCF2TypedValue(100000, BCF2Type.INT32)); + forCombinations.add(new BCF2TypedValue(0.0, BCF2Type.FLOAT)); + forCombinations.add(new BCF2TypedValue(1.23e6, BCF2Type.FLOAT)); + forCombinations.add(new BCF2TypedValue(-1.23e6, BCF2Type.FLOAT)); + forCombinations.add(new BCF2TypedValue("S", BCF2Type.CHAR)); + forCombinations.add(new BCF2TypedValue("ABCDEFGHIJKLMNOPQRSTUVWXYZ", BCF2Type.CHAR)); + forCombinations.add(new BCF2TypedValue("ABCDEFGHIJKLMNOPQRSTUVWXYZABCDEFGHIJKLMNOPQRSTUVWXYZABCDEFGHIJKLMNOPQRSTUVWXYZ", BCF2Type.CHAR)); + + // missing values + for ( BCF2Type type : BCF2Type.values() ) { + forCombinations.add(new BCF2TypedValue(null, type)); + } + } + + // -------------------------------------------------------------------------------- + // + // merge case Provider + // + // -------------------------------------------------------------------------------- + + private class BCF2TypedValue { + final BCF2Type type; + final Object value; + + private BCF2TypedValue(final int value, final BCF2Type type) { + this(new Integer(value), type); + } + + private BCF2TypedValue(final double value, final BCF2Type type) { + this(new Double(value), type); + } + + private BCF2TypedValue(final Object value, final BCF2Type type) { + this.type = type; + this.value = value; + } + + public boolean isMissing() { return value == null; } + + @Override + public String toString() { + return String.format("%s of %s", value, type); + } + } + + // ----------------------------------------------------------------- + // + // Test encoding of basic types + // + // ----------------------------------------------------------------- + + @DataProvider(name = "BCF2EncodingTestProviderBasicTypes") + public Object[][] BCF2EncodingTestProviderBasicTypes() { + List tests = new ArrayList(); + for ( BCF2TypedValue tv : basicTypes ) + tests.add(new Object[]{Arrays.asList(tv)}); + return tests.toArray(new Object[][]{}); + } + + private interface EncodeMe { + public void encode(final BCF2Encoder encoder, final BCF2TypedValue tv) throws IOException; + } + + + @Test(dataProvider = "BCF2EncodingTestProviderBasicTypes") + public void testBCF2BasicTypesWithStaticCalls(final List toEncode) throws IOException { + testBCF2BasicTypesWithEncodeMe(toEncode, + new EncodeMe() { + @Override + public void encode(final BCF2Encoder encoder, final BCF2TypedValue tv) throws IOException { + switch ( tv.type ) { + case INT8: + case INT16: + case INT32: + encoder.encodeTypedInt((Integer)tv.value, tv.type); + break; + case FLOAT: + encoder.encodeTypedFloat((Double)tv.value); + break; + case CHAR: + encoder.encodeTypedString((String)tv.value); + break; + } + } + }); + } + + @Test(dataProvider = "BCF2EncodingTestProviderBasicTypes") + public void testBCF2BasicTypesWithObjectType(final List toEncode) throws IOException { + testBCF2BasicTypesWithEncodeMe(toEncode, + new EncodeMe() { + @Override + public void encode(final BCF2Encoder encoder, final BCF2TypedValue tv) throws IOException { + encoder.encodeTyped(tv.value, tv.type); + } + }); + } + + @Test(dataProvider = "BCF2EncodingTestProviderBasicTypes") + public void testBCF2BasicTypesWithObjectNoType(final List toEncode) throws IOException { + testBCF2BasicTypesWithEncodeMe(toEncode, + new EncodeMe() { + @Override + public void encode(final BCF2Encoder encoder, final BCF2TypedValue tv) throws IOException { + encoder.encode(tv.value); + } + }); + } + + public void testBCF2BasicTypesWithEncodeMe(final List toEncode, final EncodeMe func) throws IOException { + for ( final BCF2TypedValue tv : toEncode ) { + BCF2Encoder encoder = new BCF2Encoder(); + func.encode(encoder, tv); + + BCF2Decoder decoder = new BCF2Decoder(encoder.getRecordBytes()); + final Object decoded = decoder.decodeTypedValue(); + + Assert.assertNotNull(decoded); + Assert.assertFalse(decoded instanceof List); + myAssertEquals(tv, decoded); + } + } + + @Test(dataProvider = "BCF2EncodingTestProviderBasicTypes") + public void testBCF2EncodingVectors(final List toEncode) throws IOException { + for ( final BCF2TypedValue tv : toEncode ) { + for ( final int length : Arrays.asList(2, 5, 10, 15, 20, 25) ) { + BCF2Encoder encoder = new BCF2Encoder(); + List expected = Collections.nCopies(length, tv.value); + encoder.encodeTyped(expected, tv.type); + + BCF2Decoder decoder = new BCF2Decoder(encoder.getRecordBytes()); + final Object decoded = decoder.decodeTypedValue(); + + Assert.assertTrue(decoded instanceof List); + final List decodedList = (List)decoded; + Assert.assertEquals(decodedList.size(), expected.size()); + for ( Object decodedValue : decodedList ) + myAssertEquals(tv, decodedValue); + } + } + } + + @DataProvider(name = "BCF2EncodingTestProviderSingletons") + public Object[][] BCF2EncodingTestProviderSingletons() { + List tests = new ArrayList(); + for ( BCF2TypedValue tv : primitives ) + tests.add(new Object[]{Arrays.asList(tv)}); + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "BCF2EncodingTestProviderSingletons") + public void testBCF2EncodingSingletons(final List toEncode) throws IOException { + final byte[] record = encodeRecord(toEncode); + decodeRecord(toEncode, record); + } + + // ----------------------------------------------------------------- + // + // Test encoding of vectors + // + // ----------------------------------------------------------------- + + @DataProvider(name = "BCF2EncodingTestProviderSequences") + public Object[][] BCF2EncodingTestProviderSequences() { + List tests = new ArrayList(); + for ( BCF2TypedValue tv1 : forCombinations ) + for ( BCF2TypedValue tv2 : forCombinations ) + for ( BCF2TypedValue tv3 : forCombinations ) + tests.add(new Object[]{Arrays.asList(tv1, tv2, tv3)}); + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "BCF2EncodingTestProviderBasicTypes") + public void testBCF2EncodingVectorsWithMissing(final List toEncode) throws IOException { + for ( final BCF2TypedValue tv : toEncode ) { + if ( tv.type != BCF2Type.CHAR ) { + for ( final int length : Arrays.asList(2, 5, 10, 15, 20, 25) ) { + final byte td = BCF2Utils.encodeTypeDescriptor(1, tv.type); + + final BCF2Encoder encoder = new BCF2Encoder(); + for ( int i = 0; i < length; i++ ) { + encoder.encodeRawValue(i % 2 == 0 ? null : tv.value, tv.type); + } + + final BCF2Decoder decoder = new BCF2Decoder(encoder.getRecordBytes()); + + for ( int i = 0; i < length; i++ ) { + final Object decoded = decoder.decodeTypedValue(td); + myAssertEquals(i % 2 == 0 ? new BCF2TypedValue(null, tv.type) : tv, decoded); + } + } + } + } + } + + @Test(dataProvider = "BCF2EncodingTestProviderSequences", dependsOnMethods = "testBCF2EncodingSingletons") + public void testBCF2EncodingTestProviderSequences(final List toEncode) throws IOException { + final byte[] record = encodeRecord(toEncode); + decodeRecord(toEncode, record); + } + + // ----------------------------------------------------------------- + // + // Test strings and lists of strings + // + // ----------------------------------------------------------------- + + @DataProvider(name = "ListOfStrings") + public Object[][] listOfStringsProvider() { + List tests = new ArrayList(); + tests.add(new Object[]{Arrays.asList("s1", "s2"), ",s1,s2"}); + tests.add(new Object[]{Arrays.asList("s1", "s2", "s3"), ",s1,s2,s3"}); + tests.add(new Object[]{Arrays.asList("s1", "s2", "s3", "s4"), ",s1,s2,s3,s4"}); + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "ListOfStrings") + public void testEncodingListOfString(List strings, String expected) throws IOException { + final String collapsed = BCF2Utils.collapseStringList(strings); + Assert.assertEquals(collapsed, expected); + Assert.assertEquals(BCF2Utils.exploreStringList(collapsed), strings); + } + + // ----------------------------------------------------------------- + // + // Tests to determine the best type of arrays of integers + // + // ----------------------------------------------------------------- + + @DataProvider(name = "BestIntTypeTests") + public Object[][] BestIntTypeTests() { + List tests = new ArrayList(); + tests.add(new Object[]{Arrays.asList(1), BCF2Type.INT8}); + tests.add(new Object[]{Arrays.asList(1, 10), BCF2Type.INT8}); + tests.add(new Object[]{Arrays.asList(1, 10, 100), BCF2Type.INT8}); + tests.add(new Object[]{Arrays.asList(1, -1), BCF2Type.INT8}); + tests.add(new Object[]{Arrays.asList(1, 1000), BCF2Type.INT16}); + tests.add(new Object[]{Arrays.asList(1, 1000, 10), BCF2Type.INT16}); + tests.add(new Object[]{Arrays.asList(1, 1000, 100), BCF2Type.INT16}); + tests.add(new Object[]{Arrays.asList(1000), BCF2Type.INT16}); + tests.add(new Object[]{Arrays.asList(100000), BCF2Type.INT32}); + tests.add(new Object[]{Arrays.asList(100000, 10), BCF2Type.INT32}); + tests.add(new Object[]{Arrays.asList(100000, 100), BCF2Type.INT32}); + tests.add(new Object[]{Arrays.asList(100000, 1, -10), BCF2Type.INT32}); + tests.add(new Object[]{Arrays.asList(-100000, 1, -10), BCF2Type.INT32}); + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "BestIntTypeTests") + public void determineBestEncoding(final List ints, final BCF2Type expectedType) throws IOException { + BCF2Encoder encoder = new BCF2Encoder(); + Assert.assertEquals(BCF2Utils.determineIntegerType(ints), expectedType); + Assert.assertEquals(BCF2Utils.determineIntegerType(ArrayUtils.toPrimitive(ints.toArray(new Integer[0]))), expectedType); + } + + // ----------------------------------------------------------------- + // + // Tests managing and skipping multiple blocks + // + // ----------------------------------------------------------------- + + @Test(dataProvider = "BCF2EncodingTestProviderSequences", dependsOnMethods = "testBCF2EncodingTestProviderSequences") + public void testReadAndSkipWithMultipleBlocks(final List block) throws IOException { + testReadAndSkipWithMultipleBlocks(block, forCombinations); + testReadAndSkipWithMultipleBlocks(forCombinations, block); + } + + public void testReadAndSkipWithMultipleBlocks(final List block1, final List block2) throws IOException { + final byte[] record1 = encodeRecord(block1); + final byte[] record2 = encodeRecord(block2); + + // each record is individually good + decodeRecord(block1, record1); + decodeRecord(block2, record2); + + BCF2Decoder decoder = new BCF2Decoder(); + + // test setting + decoder.setRecordBytes(record1); + decodeRecord(block1, decoder); + decoder.setRecordBytes(record2); + decodeRecord(block2, decoder); + + // test combining the streams + final byte[] combined = combineRecords(record1, record2); + final List combinedObjects = new ArrayList(block1); + combinedObjects.addAll(block2); + + // the combined bytes is the same as the combined objects + InputStream stream = new ByteArrayInputStream(combined); + decoder.readNextBlock(record1.length, stream); + decodeRecord(block1, decoder); + decoder.readNextBlock(record2.length, stream); + decodeRecord(block2, decoder); + + // skipping the first block allows us to read the second block directly + stream = new ByteArrayInputStream(combined); + decoder.skipNextBlock(record1.length, stream); + decoder.readNextBlock(record2.length, stream); + decodeRecord(block2, decoder); + } + + // ----------------------------------------------------------------- + // + // Test encoding / decoding arrays of ints + // + // This checks that we can encode and decode correctly with the + // low-level decodeIntArray function arrays of values. This + // has to be pretty comprehensive as decodeIntArray is a highly optimized + // piece of code with lots of edge cases. The values we are encoding + // don't really matter -- just that the values come back as expected. + // + // ----------------------------------------------------------------- + + @DataProvider(name = "IntArrays") + public Object[][] makeIntArrays() { + List tests = new ArrayList(); + + for ( int nValues : Arrays.asList(0, 1, 2, 5, 10, 100) ) { + for ( int nPad : Arrays.asList(0, 1, 2, 5, 10, 100) ) { + int nElements = nValues + nPad; + + List values = new ArrayList(nElements); + + // add nValues from 0 to nValues - 1 + for ( int i = 0; i < nValues; i++ ) + values.add(i); + + // add nPad nulls + for ( int i = 0; i < nPad; i++ ) + values.add(null); + + tests.add(new Object[]{values}); + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "IntArrays") + public void testIntArrays(final List ints) throws IOException { + final BCF2Encoder encoder = new BCF2Encoder(); + encoder.encodeTyped(ints, BCF2Type.INT16); + + final BCF2Decoder decoder = new BCF2Decoder(encoder.getRecordBytes()); + + final byte typeDescriptor = decoder.readTypeDescriptor(); + + // read the int[] with the low-level version + final int size = decoder.decodeNumberOfElements(typeDescriptor); + final int[] decoded = decoder.decodeIntArray(typeDescriptor, size); + + if ( isMissing(ints) ) { + // we expect that the result is null in this case + Assert.assertNull(decoded, "Encoded all missing values -- expected null"); + } else { + // we expect at least some values to come back + Assert.assertTrue(decoded.length > 0, "Must have at least 1 element for non-null encoded data"); + + // check corresponding values + for ( int i = 0; i < ints.size(); i++ ) { + final Integer expected = ints.get(i); + + if ( expected == null ) { + Assert.assertTrue(decoded.length <= i, "we expect decoded to be truncated for missing values"); + } else { + Assert.assertTrue(decoded.length > i, "we expected at least " + i + " values in decoded array"); + Assert.assertEquals(decoded[i], (int)expected); + } + } + } + } + + // ----------------------------------------------------------------- + // + // Helper routines + // + // ----------------------------------------------------------------- + + private final byte[] combineRecords(final byte[] record1, final byte[] record2) throws IOException { + ByteArrayOutputStream baos = new ByteArrayOutputStream(); + baos.write(record1); + baos.write(record2); + return baos.toByteArray(); + } + + private final byte[] encodeRecord(final List toEncode) throws IOException { + BCF2Encoder encoder = new BCF2Encoder(); + + for ( final BCF2TypedValue tv : toEncode ) { + if ( tv.isMissing() ) + encoder.encodeTypedMissing(tv.type); + else { + final BCF2Type encodedType = encoder.encode(tv.value); + if ( tv.type != null ) // only if we have an expectation + Assert.assertEquals(encodedType, tv.type); + } + } + + // check output + final byte[] record = encoder.getRecordBytes(); + Assert.assertNotNull(record); + Assert.assertTrue(record.length > 0); + return record; + } + + private final void decodeRecord(final List toEncode, final byte[] record) { + decodeRecord(toEncode, new BCF2Decoder(record)); + } + + private final void decodeRecord(final List toEncode, final BCF2Decoder decoder) { + for ( final BCF2TypedValue tv : toEncode ) { + Assert.assertFalse(decoder.blockIsFullyDecoded()); + final Object decoded = decoder.decodeTypedValue(); + + myAssertEquals(tv, decoded); + } + + Assert.assertTrue(decoder.blockIsFullyDecoded()); + } + + private final void myAssertEquals(final BCF2TypedValue tv, final Object decoded) { + if ( tv.value == null ) { // special needs for instanceof double + Assert.assertEquals(decoded, tv.value); + } else if ( tv.type == BCF2Type.FLOAT ) { // need tolerance for floats, and they aren't null + Assert.assertTrue(decoded instanceof Double); + + final double valueFloat = (Double)tv.value; + final double decodedFloat = (Double)decoded; + + BaseTest.assertEqualsDoubleSmart(decodedFloat, valueFloat, FLOAT_TOLERANCE); + } else + Assert.assertEquals(decoded, tv.value); + } + + private final boolean isMissing(final List values) { + if ( values != null ) + for ( Integer value : values ) + if ( value != null ) + return false; + return true; + } +} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/sting/utils/codecs/hapmap/HapMapUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/codecs/hapmap/HapMapUnitTest.java index 5fd4c610e..635779880 100644 --- a/public/java/test/org/broadinstitute/sting/utils/codecs/hapmap/HapMapUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/codecs/hapmap/HapMapUnitTest.java @@ -26,6 +26,8 @@ package org.broadinstitute.sting.utils.codecs.hapmap; import org.broad.tribble.annotation.Strand; import org.broad.tribble.readers.AsciiLineReader; +import org.broad.tribble.readers.PositionalBufferedStream; +import org.broadinstitute.sting.BaseTest; import org.testng.Assert; import org.testng.annotations.Test; @@ -37,9 +39,9 @@ import java.io.IOException; /** * Unit tests for the HapMap codec */ -public class HapMapUnitTest { +public class HapMapUnitTest extends BaseTest { // our sample hapmap file - private final static File hapMapFile = new File("public/testdata/genotypes_chr1_ASW_phase3.3_first500.hapmap"); + private final static File hapMapFile = new File(privateTestDir + "genotypes_chr1_ASW_phase3.3_first500.hapmap"); private final static String knownLine = "rs2185539 C/T chr1 556738 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_r" + "s2185539:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ CC TC TT CT CC CC CC CC CC CC CC CC CC"; /** @@ -152,7 +154,7 @@ public class HapMapUnitTest { public AsciiLineReader getReader() { try { - return new AsciiLineReader(new FileInputStream(hapMapFile)); + return new AsciiLineReader(new PositionalBufferedStream(new FileInputStream(hapMapFile))); } catch (FileNotFoundException e) { Assert.fail("Unable to open hapmap file : " + hapMapFile); } diff --git a/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/IndexFactoryUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/IndexFactoryUnitTest.java index 55bd4783b..41ea587be 100755 --- a/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/IndexFactoryUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/IndexFactoryUnitTest.java @@ -1,31 +1,34 @@ package org.broadinstitute.sting.utils.codecs.vcf; import net.sf.samtools.SAMSequenceDictionary; +import org.broad.tribble.AbstractFeatureReader; +import org.broad.tribble.CloseableTribbleIterator; import org.broad.tribble.Tribble; -import org.broad.tribble.index.*; -import org.broad.tribble.iterators.CloseableTribbleIterator; -import org.broad.tribble.source.BasicFeatureSource; +import org.broad.tribble.index.Index; +import org.broad.tribble.index.IndexFactory; import org.broadinstitute.sting.BaseTest; -import org.broadinstitute.sting.WalkerTest; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; import org.broadinstitute.sting.utils.variantcontext.VariantContext; -import org.testng.Assert; +import org.broadinstitute.sting.utils.variantcontext.writer.Options; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriterFactory; import org.testng.annotations.BeforeTest; import org.testng.annotations.Test; import java.io.File; import java.io.FileNotFoundException; import java.io.IOException; -import java.util.*; +import java.util.Arrays; +import java.util.EnumSet; /** * tests out the various functions in the index factory class */ public class IndexFactoryUnitTest extends BaseTest { - File inputFile = new File("public/testdata/HiSeq.10000.vcf"); - File outputFile = new File("public/testdata/onTheFlyOutputTest.vcf"); + File inputFile = new File(privateTestDir + "HiSeq.10000.vcf"); + File outputFile = new File(privateTestDir + "onTheFlyOutputTest.vcf"); File outputFileIndex = Tribble.indexFile(outputFile); private SAMSequenceDictionary dict; @@ -45,17 +48,18 @@ public class IndexFactoryUnitTest extends BaseTest { // @Test public void testOnTheFlyIndexing1() throws IOException { - Index indexFromInputFile = IndexFactory.createIndex(inputFile, new VCFCodec()); + Index indexFromInputFile = IndexFactory.createDynamicIndex(inputFile, new VCFCodec()); if ( outputFileIndex.exists() ) { System.err.println("Deleting " + outputFileIndex); outputFileIndex.delete(); } for ( int maxRecords : Arrays.asList(0, 1, 10, 100, 1000, -1)) { - BasicFeatureSource source = new BasicFeatureSource(inputFile.getAbsolutePath(), indexFromInputFile, new VCFCodec()); + AbstractFeatureReader source = AbstractFeatureReader.getFeatureReader(inputFile.getAbsolutePath(), new VCFCodec(), indexFromInputFile); int counter = 0; - VCFWriter writer = new StandardVCFWriter(outputFile, dict); + final EnumSet options = EnumSet.of(Options.ALLOW_MISSING_FIELDS_IN_HEADER); + VariantContextWriter writer = VariantContextWriterFactory.create(outputFile, dict, options); writer.writeHeader((VCFHeader)source.getHeader()); CloseableTribbleIterator it = source.iterator(); while (it.hasNext() && (counter++ < maxRecords || maxRecords == -1) ) { @@ -66,7 +70,7 @@ public class IndexFactoryUnitTest extends BaseTest { // test that the input index is the same as the one created from the identical input file // test that the dynamic index is the same as the output index, which is equal to the input index - WalkerTest.assertOnDiskIndexEqualToNewlyCreatedIndex(outputFileIndex, "unittest", outputFile); + //WalkerTest.assertOnDiskIndexEqualToNewlyCreatedIndex(outputFileIndex, "unittest", outputFile); } } } diff --git a/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFAlleleClipperUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFAlleleClipperUnitTest.java new file mode 100644 index 000000000..8cd051e01 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFAlleleClipperUnitTest.java @@ -0,0 +1,226 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ +package org.broadinstitute.sting.utils.codecs.vcf; + +import com.google.java.contract.Requires; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.variantcontext.*; +import org.testng.Assert; +import org.testng.SkipException; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.*; + +public class VCFAlleleClipperUnitTest extends BaseTest { + // -------------------------------------------------------------------------------- + // + // Test allele clipping + // + // -------------------------------------------------------------------------------- + + private class ClipAllelesTest extends TestDataProvider { + final int position; + final int stop; + final String ref; + List inputs; + List expected; + + @Requires("arg.length % 2 == 0") + private ClipAllelesTest(final int position, final int stop, final String ... arg) { + super(ClipAllelesTest.class); + this.position = position; + this.stop = stop; + this.ref = arg[0]; + + int n = arg.length / 2; + inputs = new ArrayList(n); + expected = new ArrayList(n); + + for ( int i = 0; i < n; i++ ) { + final boolean ref = i % n == 0; + inputs.add(Allele.create(arg[i], ref)); + } + for ( int i = n; i < arg.length; i++ ) { + final boolean ref = i % n == 0; + expected.add(Allele.create(arg[i], ref)); + } + } + + public boolean isClipped() { + for ( int i = 0; i < inputs.size(); i++ ) { + if ( inputs.get(i).length() != expected.get(i).length() ) + return true; + } + + return false; + } + + public String toString() { + return String.format("ClipAllelesTest input=%s expected=%s", inputs, expected); + } + } + @DataProvider(name = "ClipAllelesTest") + public Object[][] makeClipAllelesTest() { + // do no harm + new ClipAllelesTest(10, 10, "A", "A"); + new ClipAllelesTest(10, 10, "A", "C", "A", "C"); + new ClipAllelesTest(10, 10, "A", "C", "G", "A", "C", "G"); + + // insertions + new ClipAllelesTest(10, 10, "A", "AA", "-", "A"); + new ClipAllelesTest(10, 10, "A", "AAA", "-", "AA"); + new ClipAllelesTest(10, 10, "A", "AG", "-", "G"); + + // deletions + new ClipAllelesTest(10, 11, "AA", "A", "A", "-"); + new ClipAllelesTest(10, 12, "AAA", "A", "AA", "-"); + new ClipAllelesTest(10, 11, "AG", "A", "G", "-"); + new ClipAllelesTest(10, 12, "AGG", "A", "GG", "-"); + + // multi-allelic insertion and deletions + new ClipAllelesTest(10, 11, "AA", "A", "AAA", "A", "-", "AA"); + new ClipAllelesTest(10, 11, "AA", "A", "AAG", "A", "-", "AG"); + new ClipAllelesTest(10, 10, "A", "AA", "AAA", "-", "A", "AA"); + new ClipAllelesTest(10, 10, "A", "AA", "ACA", "-", "A", "CA"); + new ClipAllelesTest(10, 12, "ACG", "ATC", "AGG", "CG", "TC", "GG"); + new ClipAllelesTest(10, 11, "AC", "AT", "AG", "C", "T", "G"); + + // cannot be clipped + new ClipAllelesTest(10, 11, "AC", "CT", "AG", "AC", "CT", "AG"); + new ClipAllelesTest(10, 11, "AC", "CT", "GG", "AC", "CT", "GG"); + + // symbolic + new ClipAllelesTest(10, 100, "A", "", "A", ""); + new ClipAllelesTest(50, 50, "G", "G]22:60]", "G", "G]22:60]"); + new ClipAllelesTest(51, 51, "T", "]22:55]T", "T", "]22:55]T"); + new ClipAllelesTest(52, 52, "C", "C[22:51[", "C", "C[22:51["); + new ClipAllelesTest(60, 60, "A", "A]22:50]", "A", "A]22:50]"); + + // symbolic with alleles that should be clipped + new ClipAllelesTest(10, 100, "A", "", "AA", "-", "", "A"); + new ClipAllelesTest(10, 100, "AA", "", "A", "A", "", "-"); + new ClipAllelesTest(10, 100, "AA", "", "A", "AAA", "A", "", "-", "AA"); + new ClipAllelesTest(10, 100, "AG", "", "A", "AGA", "G", "", "-", "GA"); + new ClipAllelesTest(10, 100, "G", "", "A", "G", "", "A"); + + // clipping from both ends + // + // TODO -- THIS CODE IS BROKEN BECAUSE CLIPPING DOES WORK WITH ALLELES CLIPPED FROM THE END + // +// new ClipAllelesTest(10, 10, "ATA", "ATTA", "-", "T"); +// new ClipAllelesTest(10, 10, "ATAA", "ATTAA", "-", "T"); +// new ClipAllelesTest(10, 10, "ATAAG", "ATTAAG", "-", "T"); +// new ClipAllelesTest(10, 11, "GTA", "ATTA", "G", "AT"); +// new ClipAllelesTest(10, 11, "GTAA", "ATTAA", "G", "AT"); +// new ClipAllelesTest(10, 11, "GTAAG", "ATTAAG", "G", "AT"); + + // complex substitutions + new ClipAllelesTest(10, 10, "A", "GA", "A", "GA"); + + return ClipAllelesTest.getTests(ClipAllelesTest.class); + } + + @Test(dataProvider = "ClipAllelesTest") + public void testClipAllelesTest(ClipAllelesTest cfg) { + final VCFAlleleClipper.ClippedAlleles clipped = VCFAlleleClipper.clipAlleles(cfg.position, cfg.ref, cfg.inputs, cfg.stop); + Assert.assertNull(clipped.getError(), "Unexpected error occurred"); + Assert.assertEquals(clipped.getStop(), cfg.stop, "Clipped alleles stop"); + Assert.assertEquals(clipped.getClippedAlleles(), cfg.expected, "Clipped alleles"); + } + + @Test(dataProvider = "ClipAllelesTest", dependsOnMethods = "testClipAllelesTest") + public void testPaddingAllelesInVC(final ClipAllelesTest cfg) { + final VCFAlleleClipper.ClippedAlleles clipped = VCFAlleleClipper.clipAlleles(cfg.position, cfg.ref, cfg.inputs, cfg.stop); + final VariantContext vc = new VariantContextBuilder("x", "1", cfg.position, cfg.stop, clipped.getClippedAlleles()) + .referenceBaseForIndel(clipped.getRefBaseForIndel()).make(); + + if ( vc.isMixed() && vc.hasSymbolicAlleles() ) + throw new SkipException("GATK cannot handle mixed variant contexts with symbolic and concrete alleles. Remove this check when allele clipping and padding is generalized"); + + Assert.assertEquals(VCFAlleleClipper.needsPadding(vc), cfg.isClipped(), "needPadding method"); + + if ( cfg.isClipped() ) { + // TODO + // TODO note that the GATK currently uses a broken approach to the clipped alleles, so the expected stop is + // TODO actually the original stop, as the original stop is +1 its true size. + // TODO + final int expectedStop = vc.getEnd(); // + (vc.hasSymbolicAlleles() ? 0 : 1); + + final VariantContext padded = VCFAlleleClipper.createVariantContextWithPaddedAlleles(vc); + Assert.assertEquals(padded.getStart(), vc.getStart(), "padded VC start"); + Assert.assertEquals(padded.getAlleles(), cfg.inputs, "padded VC alleles == original unclipped alleles"); + Assert.assertEquals(padded.getEnd(), expectedStop, "padded VC end should be clipped VC + 1 (added a base to ref allele)"); + Assert.assertFalse(VCFAlleleClipper.needsPadding(padded), "padded VC shouldn't need padding again"); + } + } + + // -------------------------------------------------------------------------------- + // + // basic allele clipping test + // + // -------------------------------------------------------------------------------- + + private class ReverseClippingPositionTestProvider extends TestDataProvider { + final String ref; + final List alleles = new ArrayList(); + final int expectedClip; + + private ReverseClippingPositionTestProvider(final int expectedClip, final String ref, final String... alleles) { + super(ReverseClippingPositionTestProvider.class); + this.ref = ref; + for ( final String allele : alleles ) + this.alleles.add(Allele.create(allele)); + this.expectedClip = expectedClip; + } + + @Override + public String toString() { + return String.format("ref=%s allele=%s reverse clip %d", ref, alleles, expectedClip); + } + } + + @DataProvider(name = "ReverseClippingPositionTestProvider") + public Object[][] makeReverseClippingPositionTestProvider() { + // pair clipping + new ReverseClippingPositionTestProvider(0, "ATT", "CCG"); + new ReverseClippingPositionTestProvider(1, "ATT", "CCT"); + new ReverseClippingPositionTestProvider(2, "ATT", "CTT"); + new ReverseClippingPositionTestProvider(2, "ATT", "ATT"); // cannot completely clip allele + + // triplets + new ReverseClippingPositionTestProvider(0, "ATT", "CTT", "CGG"); + new ReverseClippingPositionTestProvider(1, "ATT", "CTT", "CGT"); // the T can go + new ReverseClippingPositionTestProvider(2, "ATT", "CTT", "CTT"); // both Ts can go + + return ReverseClippingPositionTestProvider.getTests(ReverseClippingPositionTestProvider.class); + } + + + @Test(dataProvider = "ReverseClippingPositionTestProvider") + public void testReverseClippingPositionTestProvider(ReverseClippingPositionTestProvider cfg) { + int result = VCFAlleleClipper.computeReverseClipping(cfg.alleles, cfg.ref.getBytes(), 0, false); + Assert.assertEquals(result, cfg.expectedClip); + } +} diff --git a/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFCodecUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFCodecUnitTest.java deleted file mode 100644 index e0fb1b876..000000000 --- a/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFCodecUnitTest.java +++ /dev/null @@ -1,91 +0,0 @@ -/* - * Copyright (c) 2012, The Broad Institute - * - * Permission is hereby granted, free of charge, to any person - * obtaining a copy of this software and associated documentation - * files (the "Software"), to deal in the Software without - * restriction, including without limitation the rights to use, - * copy, modify, merge, publish, distribute, sublicense, and/or sell - * copies of the Software, and to permit persons to whom the - * Software is furnished to do so, subject to the following - * conditions: - * - * The above copyright notice and this permission notice shall be - * included in all copies or substantial portions of the Software. - * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, - * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES - * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND - * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT - * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, - * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING - * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR - * OTHER DEALINGS IN THE SOFTWARE. - */ - -// our package -package org.broadinstitute.sting.utils.codecs.vcf; - - -// the imports for unit testing. - - -import org.broadinstitute.sting.BaseTest; -import org.broadinstitute.sting.utils.variantcontext.*; -import org.testng.Assert; -import org.testng.annotations.BeforeSuite; -import org.testng.annotations.DataProvider; -import org.testng.annotations.Test; - -import java.util.*; - - -public class VCFCodecUnitTest extends BaseTest { - - // -------------------------------------------------------------------------------- - // - // Provider - // - // -------------------------------------------------------------------------------- - - private class AlleleClippingTestProvider extends TestDataProvider { - final String ref; - final List alleles = new ArrayList(); - final int expectedClip; - - private AlleleClippingTestProvider(final int expectedClip, final String ref, final String ... alleles) { - super(AlleleClippingTestProvider.class); - this.ref = ref; - for ( final String allele : alleles ) - this.alleles.add(Allele.create(allele)); - this.expectedClip = expectedClip; - } - - @Override - public String toString() { - return String.format("ref=%s allele=%s reverse clip %d", ref, alleles, expectedClip); - } - } - - @DataProvider(name = "AlleleClippingTestProvider") - public Object[][] MakeAlleleClippingTest() { - // pair clipping - new AlleleClippingTestProvider(0, "ATT", "CCG"); - new AlleleClippingTestProvider(1, "ATT", "CCT"); - new AlleleClippingTestProvider(2, "ATT", "CTT"); - new AlleleClippingTestProvider(2, "ATT", "ATT"); // cannot completely clip allele - - // triplets - new AlleleClippingTestProvider(0, "ATT", "CTT", "CGG"); - new AlleleClippingTestProvider(1, "ATT", "CTT", "CGT"); // the T can go - new AlleleClippingTestProvider(2, "ATT", "CTT", "CTT"); // both Ts can go - - return AlleleClippingTestProvider.getTests(AlleleClippingTestProvider.class); - } - - - @Test(dataProvider = "AlleleClippingTestProvider") - public void TestAlleleClipping(AlleleClippingTestProvider cfg) { - int result = AbstractVCFCodec.computeReverseClipping(cfg.alleles, cfg.ref.getBytes(), 0, false, 1); - Assert.assertEquals(result, cfg.expectedClip); - } -} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/sting/utils/genotype/vcf/VCFHeaderUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFHeaderUnitTest.java similarity index 90% rename from public/java/test/org/broadinstitute/sting/utils/genotype/vcf/VCFHeaderUnitTest.java rename to public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFHeaderUnitTest.java index 14e63191d..62d584ef6 100644 --- a/public/java/test/org/broadinstitute/sting/utils/genotype/vcf/VCFHeaderUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFHeaderUnitTest.java @@ -1,7 +1,7 @@ -package org.broadinstitute.sting.utils.genotype.vcf; +package org.broadinstitute.sting.utils.codecs.vcf; import org.broad.tribble.readers.AsciiLineReader; -import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broad.tribble.readers.PositionalBufferedStream; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.testng.Assert; import org.broadinstitute.sting.BaseTest; @@ -24,21 +24,21 @@ public class VCFHeaderUnitTest extends BaseTest { private VCFHeader createHeader(String headerStr) { VCFCodec codec = new VCFCodec(); - VCFHeader header = (VCFHeader)codec.readHeader(new AsciiLineReader(new StringBufferInputStream(headerStr))); - Assert.assertEquals(header.getMetaData().size(), VCF4headerStringCount); + VCFHeader header = (VCFHeader)codec.readHeader(new AsciiLineReader(new PositionalBufferedStream(new StringBufferInputStream(headerStr)))); + Assert.assertEquals(header.getMetaDataInInputOrder().size(), VCF4headerStringCount); return header; } @Test public void testVCF4ToVCF4() { VCFHeader header = createHeader(VCF4headerStrings); - checkMD5ofHeaderFile(header, "4648aa1169257e0a8a9d30131adb5f35"); + checkMD5ofHeaderFile(header, "f05a57053a0c6a5bac15dba566f7f7ff"); } @Test public void testVCF4ToVCF4_alternate() { VCFHeader header = createHeader(VCF4headerStrings_with_negativeOne); - checkMD5ofHeaderFile(header, "ad8c4cf85e868b0261ab49ee2c613088"); + checkMD5ofHeaderFile(header, "b1d71cc94261053131f8d239d65a8c9f"); } /** @@ -97,10 +97,10 @@ public class VCFHeaderUnitTest extends BaseTest { } catch (IOException e) { Assert.fail("Unable to make a temp file!"); } - for (VCFHeaderLine line : header.getMetaData()) + for (VCFHeaderLine line : header.getMetaDataInSortedOrder()) pw.println(line); pw.close(); - Assert.assertTrue(md5sum.equals(md5SumFile(myTempFile))); + Assert.assertEquals(md5SumFile(myTempFile), md5sum); } public static int VCF4headerStringCount = 16; @@ -111,7 +111,7 @@ public class VCFHeaderUnitTest extends BaseTest { "##reference=NCBI36\n"+ "##INFO=\n"+ "##INFO=\n"+ - "##INFO=\n"+ + "##INFO=\n"+ "##INFO=\n"+ "##INFO=\n"+ "##INFO=\n"+ @@ -131,7 +131,7 @@ public class VCFHeaderUnitTest extends BaseTest { "##reference=NCBI36\n"+ "##INFO=\n"+ "##INFO=\n"+ - "##INFO=\n"+ + "##INFO=\n"+ "##INFO=\n"+ "##INFO=\n"+ "##INFO=\n"+ diff --git a/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFIntegrationTest.java b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFIntegrationTest.java index b7bbae68d..e9b845d59 100644 --- a/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFIntegrationTest.java @@ -1,6 +1,7 @@ package org.broadinstitute.sting.utils.codecs.vcf; import org.broadinstitute.sting.WalkerTest; +import org.broadinstitute.sting.utils.exceptions.UserException; import org.testng.annotations.Test; import java.io.File; @@ -12,10 +13,10 @@ public class VCFIntegrationTest extends WalkerTest { @Test(enabled = true) public void testReadingAndWritingWitHNoChanges() { - String md5ofInputVCF = "a990ba187a69ca44cb9bc2bb44d00447"; - String testVCF = validationDataLocation + "vcf4.1.example.vcf"; + String md5ofInputVCF = "d991abe6c6a7a778a60a667717903be0"; + String testVCF = privateTestDir + "vcf4.1.example.vcf"; - String baseCommand = "-R " + b37KGReference + " -NO_HEADER -o %s "; + String baseCommand = "-R " + b37KGReference + " --no_cmdline_in_header -o %s "; String test1 = baseCommand + "-T VariantAnnotator --variant " + testVCF + " -L " + testVCF; WalkerTestSpec spec1 = new WalkerTestSpec(test1, 1, Arrays.asList(md5ofInputVCF)); @@ -26,27 +27,89 @@ public class VCFIntegrationTest extends WalkerTest { executeTest("Test Variants To VCF from new output", spec2); } - @Test + @Test(enabled = true) // See https://getsatisfaction.com/gsa/topics/support_vcf_4_1_structural_variation_breakend_alleles?utm_content=topic_link&utm_medium=email&utm_source=new_topic public void testReadingAndWritingBreakpointAlleles() { - String testVCF = testDir + "breakpoint-example.vcf"; - //String testVCF = validationDataLocation + "multiallelic.vcf"; + String testVCF = privateTestDir + "breakpoint-example.vcf"; - String baseCommand = "-R " + b37KGReference + " -NO_HEADER -o %s "; + String baseCommand = "-R " + b37KGReference + " --no_cmdline_in_header -o %s "; String test1 = baseCommand + "-T SelectVariants -V " + testVCF; - WalkerTestSpec spec1 = new WalkerTestSpec(test1, 1, Arrays.asList("76075307afd26b4db6234795d9fb3c2f")); + WalkerTestSpec spec1 = new WalkerTestSpec(test1, 1, Arrays.asList("13329ba7360a8beb3afc02569e5a20c4")); executeTest("Test reading and writing breakpoint VCF", spec1); } + @Test(enabled = true) + public void testReadingAndWriting1000GSVs() { + String testVCF = privateTestDir + "1000G_SVs.chr1.vcf"; + + String baseCommand = "-R " + b37KGReference + " --no_cmdline_in_header -o %s "; + + String test1 = baseCommand + "-T SelectVariants -V " + testVCF; + WalkerTestSpec spec1 = new WalkerTestSpec(test1, 1, Arrays.asList("")); + executeTest("Test reading and writing 1000G Phase I SVs", spec1); + } + @Test public void testReadingAndWritingSamtools() { - String testVCF = validationDataLocation + "samtools.vcf"; + String testVCF = privateTestDir + "samtools.vcf"; - String baseCommand = "-R " + b37KGReference + " -NO_HEADER -o %s "; + String baseCommand = "-R " + b37KGReference + " --no_cmdline_in_header -o %s "; String test1 = baseCommand + "-T SelectVariants -V " + testVCF; - WalkerTestSpec spec1 = new WalkerTestSpec(test1, 1, Arrays.asList("87d5b180ef5f9dc5aaee4b02601b43a2")); + WalkerTestSpec spec1 = new WalkerTestSpec(test1, 1, Arrays.asList("0f82ac11852e7f958c1a0ce52398c2ae")); executeTest("Test reading and writing samtools vcf", spec1); } + + @Test + public void testWritingSamtoolsWExBCFExample() { + String testVCF = privateTestDir + "ex2.vcf"; + String baseCommand = "-R " + b36KGReference + " --no_cmdline_in_header -o %s "; + String test1 = baseCommand + "-T SelectVariants -V " + testVCF; + WalkerTestSpec spec1 = new WalkerTestSpec(test1, 1, Arrays.asList("9773d6a121cfcb18d090965bc520f120")); + executeTest("Test writing samtools WEx BCF example", spec1); + } + + @Test(enabled = true) + public void testReadingSamtoolsWExBCFExample() { + String testVCF = privateTestDir + "ex2.bcf"; + String baseCommand = "-R " + b36KGReference + " --no_cmdline_in_header -o %s "; + String test1 = baseCommand + "-T SelectVariants -V " + testVCF; + WalkerTestSpec spec1 = new WalkerTestSpec(test1, 1, Arrays.asList("0439e2b4ccc63bb4ba7c283cd9ab1b25")); + executeTest("Test reading samtools WEx BCF example", spec1); + } + + // + // + // Tests to ensure that -U LENIENT_VCF_PROCESS and header repairs are working + // + // + + @Test + public void testFailingOnVCFWithoutHeaders() { + runVCFWithoutHeaders("", "", UserException.class, false); + } + + @Test + public void testPassingOnVCFWithoutHeadersWithLenientProcessing() { + runVCFWithoutHeaders("-U LENIENT_VCF_PROCESSING", "6de8cb7457154dd355aa55befb943f88", null, true); + } + + @Test + public void testPassingOnVCFWithoutHeadersRepairingHeaders() { + runVCFWithoutHeaders("-repairVCFHeader " + privateTestDir + "vcfexample2.justHeader.vcf", "ff61e9cad6653c7f93d82d391f7ecdcb", null, false); + } + + private void runVCFWithoutHeaders(final String moreArgs, final String expectedMD5, final Class expectedException, final boolean disableBCF) { + final String testVCF = privateTestDir + "vcfexample2.noHeader.vcf"; + final String baseCommand = "-R " + b37KGReference + + " --no_cmdline_in_header -o %s " + + "-T VariantsToVCF -V " + testVCF + " " + moreArgs; + WalkerTestSpec spec1 = expectedException != null + ? new WalkerTestSpec(baseCommand, 1, expectedException) + : new WalkerTestSpec(baseCommand, 1, Arrays.asList(expectedMD5)); + if ( disableBCF ) + spec1.disableShadowBCF(); + executeTest("Test reading VCF without header lines with additional args " + moreArgs, spec1); + } } diff --git a/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFStandardHeaderLinesUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFStandardHeaderLinesUnitTest.java new file mode 100644 index 000000000..b6e6c4f42 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/utils/codecs/vcf/VCFStandardHeaderLinesUnitTest.java @@ -0,0 +1,148 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.codecs.vcf; + +import org.broadinstitute.sting.BaseTest; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; +import org.testng.Assert; + +import java.util.ArrayList; +import java.util.Collections; +import java.util.List; + +/** + * Created by IntelliJ IDEA. + * User: aaron + * Date: Jun 30, 2010 + * Time: 3:32:08 PM + * To change this template use File | Settings | File Templates. + */ +public class VCFStandardHeaderLinesUnitTest extends BaseTest { + @DataProvider(name = "getStandardLines") + public Object[][] makeGetStandardLines() { + List tests = new ArrayList(); + + // info + tests.add(new Object[]{"AC", "info", true}); + tests.add(new Object[]{"AN", "info", true}); + tests.add(new Object[]{"AF", "info", true}); + tests.add(new Object[]{"DP", "info", true}); + tests.add(new Object[]{"DB", "info", true}); + tests.add(new Object[]{"END", "info", true}); + + // format + tests.add(new Object[]{"GT", "format", true}); + tests.add(new Object[]{"GQ", "format", true}); + tests.add(new Object[]{"DP", "format", true}); + tests.add(new Object[]{"AD", "format", true}); + tests.add(new Object[]{"PL", "format", true}); + + tests.add(new Object[]{"NOT_STANDARD", "info", false}); + tests.add(new Object[]{"NOT_STANDARD", "format", false}); + + return tests.toArray(new Object[][]{}); + } + + + @Test(dataProvider = "getStandardLines") + public void getStandardLines(final String key, final String type, final boolean expectedToBeStandard) { + VCFCompoundHeaderLine line = null; + if ( type.equals("info") ) + line = VCFStandardHeaderLines.getInfoLine(key, false); + else if ( type.equals("format") ) + line = VCFStandardHeaderLines.getFormatLine(key, false); + else + throw new IllegalArgumentException("Unexpected type in getStandardLines " + type); + + if ( expectedToBeStandard ) { + Assert.assertNotNull(line); + Assert.assertEquals(line.getID(), key); + } else + Assert.assertNull(line); + } + + private class RepairHeaderTest extends TestDataProvider { + final VCFCompoundHeaderLine original, expectedResult; + + private RepairHeaderTest(final VCFCompoundHeaderLine original) { + this(original, original); + } + + private RepairHeaderTest(final VCFCompoundHeaderLine original, final VCFCompoundHeaderLine expectedResult) { + super(RepairHeaderTest.class); + this.original = original; + this.expectedResult = expectedResult; + } + } + + @DataProvider(name = "RepairHeaderTest") + public Object[][] makeRepairHeaderTest() { + final VCFInfoHeaderLine standardAC = VCFStandardHeaderLines.getInfoLine("AC"); + final VCFInfoHeaderLine goodAC = new VCFInfoHeaderLine("AC", VCFHeaderLineCount.A, VCFHeaderLineType.Integer, "x"); + + final VCFFormatHeaderLine standardGT = VCFStandardHeaderLines.getFormatLine("GT"); + final VCFFormatHeaderLine goodGT = new VCFFormatHeaderLine("GT", 1, VCFHeaderLineType.String, "x"); + + new RepairHeaderTest( standardGT, standardGT); + new RepairHeaderTest( goodGT, goodGT ); + new RepairHeaderTest( new VCFFormatHeaderLine("GT", 2, VCFHeaderLineType.String, "x"), standardGT); + new RepairHeaderTest( new VCFFormatHeaderLine("GT", 1, VCFHeaderLineType.Integer, "x"), standardGT); + new RepairHeaderTest( new VCFFormatHeaderLine("GT", 1, VCFHeaderLineType.Float, "x"), standardGT); + new RepairHeaderTest( new VCFFormatHeaderLine("GT", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Float, "x"), standardGT); + new RepairHeaderTest( new VCFFormatHeaderLine("GT", VCFHeaderLineCount.G, VCFHeaderLineType.String, "x"), standardGT); + new RepairHeaderTest( new VCFFormatHeaderLine("GT", VCFHeaderLineCount.A, VCFHeaderLineType.String, "x"), standardGT); + + new RepairHeaderTest( standardAC, standardAC); + new RepairHeaderTest( goodAC, goodAC ); + new RepairHeaderTest( new VCFInfoHeaderLine("AC", 1, VCFHeaderLineType.Integer, "x"), standardAC); + new RepairHeaderTest( new VCFInfoHeaderLine("AC", VCFHeaderLineCount.G, VCFHeaderLineType.Integer, "x"), standardAC); + new RepairHeaderTest( new VCFInfoHeaderLine("AC", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "x"), standardAC); + new RepairHeaderTest( new VCFInfoHeaderLine("AC", 1, VCFHeaderLineType.Float, "x"), standardAC); + new RepairHeaderTest( new VCFInfoHeaderLine("AC", 1, VCFHeaderLineType.String, "x"), standardAC); + new RepairHeaderTest( new VCFInfoHeaderLine("AC", 0, VCFHeaderLineType.Flag, "x"), standardAC); + + new RepairHeaderTest( new VCFInfoHeaderLine("NON_STANDARD_INFO", 1, VCFHeaderLineType.String, "x")); + new RepairHeaderTest( new VCFFormatHeaderLine("NON_STANDARD_FORMAT", 1, VCFHeaderLineType.String, "x")); + + return RepairHeaderTest.getTests(RepairHeaderTest.class); + } + + @Test(dataProvider = "RepairHeaderTest") + public void testRepairHeaderTest(RepairHeaderTest cfg) { + final VCFHeader toRepair = new VCFHeader(Collections.singleton((VCFHeaderLine)cfg.original)); + final VCFHeader repaired = VCFStandardHeaderLines.repairStandardHeaderLines(toRepair); + + VCFCompoundHeaderLine repairedLine = (VCFCompoundHeaderLine)repaired.getFormatHeaderLine(cfg.original.getID()); + if ( repairedLine == null ) repairedLine = (VCFCompoundHeaderLine)repaired.getInfoHeaderLine(cfg.original.getID()); + + Assert.assertNotNull(repairedLine, "Repaired header didn't contain the expected line"); + Assert.assertEquals(repairedLine.getID(), cfg.expectedResult.getID()); + Assert.assertEquals(repairedLine.getType(), cfg.expectedResult.getType()); + Assert.assertEquals(repairedLine.getCountType(), cfg.expectedResult.getCountType()); + if ( repairedLine.getCountType() == VCFHeaderLineCount.INTEGER ) + Assert.assertEquals(repairedLine.getCount(), cfg.expectedResult.getCount()); + } +} diff --git a/public/java/test/org/broadinstitute/sting/utils/crypt/GATKKeyIntegrationTest.java b/public/java/test/org/broadinstitute/sting/utils/crypt/GATKKeyIntegrationTest.java index 8fb75ef38..2e6e9f904 100644 --- a/public/java/test/org/broadinstitute/sting/utils/crypt/GATKKeyIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/crypt/GATKKeyIntegrationTest.java @@ -35,8 +35,8 @@ import java.util.Arrays; public class GATKKeyIntegrationTest extends WalkerTest { public static final String BASE_COMMAND = String.format("-T PrintReads -R %s -I %s -o %%s", - testDir + "exampleFASTA.fasta", - testDir + "exampleBAM.bam"); + publicTestDir + "exampleFASTA.fasta", + publicTestDir + "exampleBAM.bam"); public static final String MD5_UPON_SUCCESSFUL_RUN = "b9dc5bf6753ca2819e70b056eaf61258"; diff --git a/public/java/test/org/broadinstitute/sting/utils/fasta/CachingIndexedFastaSequenceFileUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/fasta/CachingIndexedFastaSequenceFileUnitTest.java index 061dc99fa..c05b11cf7 100644 --- a/public/java/test/org/broadinstitute/sting/utils/fasta/CachingIndexedFastaSequenceFileUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/fasta/CachingIndexedFastaSequenceFileUnitTest.java @@ -9,8 +9,6 @@ import org.broadinstitute.sting.utils.exceptions.UserException; import org.testng.Assert; import org.testng.annotations.Test; import org.testng.annotations.DataProvider; -import org.testng.annotations.BeforeTest; -import org.testng.annotations.BeforeMethod; import org.broadinstitute.sting.BaseTest; import java.io.File; @@ -27,7 +25,7 @@ import net.sf.samtools.SAMSequenceRecord; * Basic unit test for GenomeLoc */ public class CachingIndexedFastaSequenceFileUnitTest extends BaseTest { - private File simpleFasta = new File(testDir + "/exampleFASTA.fasta"); + private File simpleFasta = new File(publicTestDir + "/exampleFASTA.fasta"); private static final int STEP_SIZE = 1; //private static final List QUERY_SIZES = Arrays.asList(1); diff --git a/public/java/test/org/broadinstitute/sting/utils/interval/IntervalIntegrationTest.java b/public/java/test/org/broadinstitute/sting/utils/interval/IntervalIntegrationTest.java index 756966e97..e8933ce04 100644 --- a/public/java/test/org/broadinstitute/sting/utils/interval/IntervalIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/interval/IntervalIntegrationTest.java @@ -207,11 +207,26 @@ public class IntervalIntegrationTest extends WalkerTest { " -R " + hg18Reference + " -o %s" + " -L " + validationDataLocation + "intervalTest.3.vcf", - 1, // just one output file - Arrays.asList(md5)); + 1, // just one output file + Arrays.asList(md5)); executeTest("testComplexVCF", spec); } + @Test(enabled = true) + public void testComplexVCFWithPadding() { + String md5 = "649ee93d50739c656e94ec88a32c7ffe"; + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-T CountLoci" + + " --interval_padding 2" + + " -I " + validationDataLocation + "OV-0930.normal.chunk.bam" + + " -R " + hg18Reference + + " -o %s" + + " -L " + validationDataLocation + "intervalTest.3.vcf", + 1, // just one output file + Arrays.asList(md5)); + executeTest("testComplexVCFWithPadding", spec); + } + @Test(enabled = true) public void testMergingWithComplexVCF() { String md5 = "6d7fce9fee471194aa8b5b6e47267f03"; @@ -264,7 +279,7 @@ public class IntervalIntegrationTest extends WalkerTest { " -I " + validationDataLocation + "NA12878.chrom1.SLX.SRP000032.2009_06.bam" + " -R " + b36KGReference + " -o %s" + - " -L " + validationDataLocation + "symbolic_alleles_1.vcf", + " -L " + privateTestDir + "symbolic_alleles_1.vcf", 1, // just one output file Arrays.asList(md5)); executeTest("testSymbolicAlleles", spec); diff --git a/public/java/test/org/broadinstitute/sting/utils/interval/IntervalUtilsUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/interval/IntervalUtilsUnitTest.java index 0a8caa8cc..3a9183e9a 100644 --- a/public/java/test/org/broadinstitute/sting/utils/interval/IntervalUtilsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/interval/IntervalUtilsUnitTest.java @@ -1,12 +1,16 @@ package org.broadinstitute.sting.utils.interval; +import net.sf.picard.reference.IndexedFastaSequenceFile; import net.sf.picard.reference.ReferenceSequenceFile; +import net.sf.picard.util.Interval; +import net.sf.picard.util.IntervalList; import net.sf.samtools.SAMFileHeader; import org.apache.commons.io.FileUtils; import org.broad.tribble.Feature; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.commandline.IntervalBinding; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import org.broadinstitute.sting.gatk.arguments.GATKArgumentCollection; import org.broadinstitute.sting.gatk.datasources.reference.ReferenceDataSource; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; @@ -45,7 +49,7 @@ public class IntervalUtilsUnitTest extends BaseTest { List locs = new ArrayList(); for (String interval: intervals) locs.add(hg18GenomeLocParser.parseGenomeLoc(interval)); - return locs; + return Collections.unmodifiableList(locs); } @BeforeClass @@ -277,7 +281,10 @@ public class IntervalUtilsUnitTest extends BaseTest { listEveryTwoFromOne.add(hg18GenomeLocParser.createGenomeLoc("chr1",x,x)); } - List ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, listEveryTwoFromOne, IntervalSetRule.UNION); + List ret; + ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, listEveryTwoFromOne, IntervalSetRule.UNION); + Assert.assertEquals(ret.size(), 100); + ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, listEveryTwoFromOne, null); Assert.assertEquals(ret.size(), 100); ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, listEveryTwoFromOne, IntervalSetRule.INTERSECTION); Assert.assertEquals(ret.size(), 0); @@ -296,7 +303,10 @@ public class IntervalUtilsUnitTest extends BaseTest { allSites.add(hg18GenomeLocParser.createGenomeLoc("chr1",x,x)); } - List ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, allSites, IntervalSetRule.UNION); + List ret; + ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, allSites, IntervalSetRule.UNION); + Assert.assertEquals(ret.size(), 150); + ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, allSites, null); Assert.assertEquals(ret.size(), 150); ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, allSites, IntervalSetRule.INTERSECTION); Assert.assertEquals(ret.size(), 50); @@ -316,7 +326,10 @@ public class IntervalUtilsUnitTest extends BaseTest { } } - List ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, allSites, IntervalSetRule.UNION); + List ret; + ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, allSites, IntervalSetRule.UNION); + Assert.assertEquals(ret.size(), 40); + ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, allSites, null); Assert.assertEquals(ret.size(), 40); ret = IntervalUtils.mergeListsBySetOperator(listEveryTwoFromTwo, allSites, IntervalSetRule.INTERSECTION); Assert.assertEquals(ret.size(), 20); @@ -357,8 +370,8 @@ public class IntervalUtilsUnitTest extends BaseTest { @Test public void testIsIntervalFile() { - Assert.assertTrue(IntervalUtils.isIntervalFile(BaseTest.validationDataLocation + "empty_intervals.list")); - Assert.assertTrue(IntervalUtils.isIntervalFile(BaseTest.validationDataLocation + "empty_intervals.list", true)); + Assert.assertTrue(IntervalUtils.isIntervalFile(BaseTest.privateTestDir + "empty_intervals.list")); + Assert.assertTrue(IntervalUtils.isIntervalFile(BaseTest.privateTestDir + "empty_intervals.list", true)); List extensions = Arrays.asList("bed", "interval_list", "intervals", "list", "picard"); for (String extension: extensions) { @@ -368,7 +381,7 @@ public class IntervalUtilsUnitTest extends BaseTest { @Test(expectedExceptions = UserException.CouldNotReadInputFile.class) public void testMissingIntervalFile() { - IntervalUtils.isIntervalFile(BaseTest.validationDataLocation + "no_such_intervals.list"); + IntervalUtils.isIntervalFile(BaseTest.privateTestDir + "no_such_intervals.list"); } @Test @@ -758,10 +771,16 @@ public class IntervalUtilsUnitTest extends BaseTest { @Test(dataProvider="unmergedIntervals") public void testUnmergedIntervals(String unmergedIntervals) { - List locs = IntervalUtils.parseIntervalArguments(hg18GenomeLocParser, Collections.singletonList(validationDataLocation + unmergedIntervals)); + List locs = IntervalUtils.parseIntervalArguments(hg18GenomeLocParser, Collections.singletonList(privateTestDir + unmergedIntervals)); Assert.assertEquals(locs.size(), 2); - List merged = IntervalUtils.mergeIntervalLocations(locs, IntervalMergingRule.ALL); + List merged; + + merged = IntervalUtils.mergeIntervalLocations(locs, IntervalMergingRule.ALL); + Assert.assertEquals(merged.size(), 1); + + // Test that null means the same as ALL + merged = IntervalUtils.mergeIntervalLocations(locs, null); Assert.assertEquals(merged.size(), 1); } @@ -993,6 +1012,74 @@ public class IntervalUtilsUnitTest extends BaseTest { // Attempting to use the legacy -L "interval1;interval2" syntax should produce an exception: IntervalBinding binding = new IntervalBinding("1;2"); - List intervals = binding.getIntervals(toolkit); + binding.getIntervals(toolkit); + } + + @DataProvider(name="invalidIntervalTestData") + public Object[][] invalidIntervalDataProvider() throws Exception { + GATKArgumentCollection argCollection = new GATKArgumentCollection(); + File fastaFile = new File("public/testdata/exampleFASTA.fasta"); + GenomeLocParser genomeLocParser = new GenomeLocParser(new IndexedFastaSequenceFile(fastaFile)); + + return new Object[][] { + new Object[] {argCollection, genomeLocParser, "chr1", 10000000, 20000000}, + new Object[] {argCollection, genomeLocParser, "chr2", 1, 2}, + new Object[] {argCollection, genomeLocParser, "chr1", -1, 50} + }; + } + + @Test(dataProvider="invalidIntervalTestData") + public void testInvalidPicardIntervalHandling(GATKArgumentCollection argCollection, GenomeLocParser genomeLocParser, + String contig, int intervalStart, int intervalEnd ) throws Exception { + + SAMFileHeader picardFileHeader = new SAMFileHeader(); + picardFileHeader.addSequence(genomeLocParser.getContigInfo("chr1")); + IntervalList picardIntervals = new IntervalList(picardFileHeader); + picardIntervals.add(new Interval(contig, intervalStart, intervalEnd, true, "dummyname")); + + File picardIntervalFile = createTempFile("testInvalidPicardIntervalHandling", ".intervals"); + picardIntervals.write(picardIntervalFile); + + List> intervalArgs = new ArrayList>(1); + intervalArgs.add(new IntervalBinding(picardIntervalFile.getAbsolutePath())); + + IntervalUtils.loadIntervals(intervalArgs, argCollection.intervalSetRule, argCollection.intervalMerging, argCollection.intervalPadding, genomeLocParser); + } + + @Test(expectedExceptions=UserException.class, dataProvider="invalidIntervalTestData") + public void testInvalidGATKFileIntervalHandling(GATKArgumentCollection argCollection, GenomeLocParser genomeLocParser, + String contig, int intervalStart, int intervalEnd ) throws Exception { + + File gatkIntervalFile = createTempFile("testInvalidGATKFileIntervalHandling", ".intervals", + String.format("%s:%d-%d", contig, intervalStart, intervalEnd)); + + List> intervalArgs = new ArrayList>(1); + intervalArgs.add(new IntervalBinding(gatkIntervalFile.getAbsolutePath())); + + IntervalUtils.loadIntervals(intervalArgs, argCollection.intervalSetRule, argCollection.intervalMerging, argCollection.intervalPadding, genomeLocParser); + } + + private File createTempFile( String tempFilePrefix, String tempFileExtension, String... lines ) throws Exception { + File tempFile = BaseTest.createTempFile(tempFilePrefix, tempFileExtension); + FileUtils.writeLines(tempFile, Arrays.asList(lines)); + return tempFile; + } + + @DataProvider(name = "sortAndMergeIntervals") + public Object[][] getSortAndMergeIntervals() { + return new Object[][] { + new Object[] { IntervalMergingRule.OVERLAPPING_ONLY, getLocs("chr1:1", "chr1:3", "chr1:2"), getLocs("chr1:1", "chr1:2", "chr1:3") }, + new Object[] { IntervalMergingRule.ALL, getLocs("chr1:1", "chr1:3", "chr1:2"), getLocs("chr1:1-3") }, + new Object[] { IntervalMergingRule.OVERLAPPING_ONLY, getLocs("chr1:1", "chr1:3", "chr2:2"), getLocs("chr1:1", "chr1:3", "chr2:2") }, + new Object[] { IntervalMergingRule.ALL, getLocs("chr1:1", "chr1:3", "chr2:2"), getLocs("chr1:1", "chr1:3", "chr2:2") }, + new Object[] { IntervalMergingRule.OVERLAPPING_ONLY, getLocs("chr1:1", "chr1"), getLocs("chr1") }, + new Object[] { IntervalMergingRule.ALL, getLocs("chr1:1", "chr1"), getLocs("chr1") } + }; + } + + @Test(dataProvider = "sortAndMergeIntervals") + public void testSortAndMergeIntervals(IntervalMergingRule merge, List unsorted, List expected) { + List sorted = IntervalUtils.sortAndMergeIntervals(hg18GenomeLocParser, unsorted, merge).toList(); + Assert.assertEquals(sorted, expected); } } diff --git a/public/java/test/org/broadinstitute/sting/utils/recalibration/BaseRecalibrationUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/recalibration/BaseRecalibrationUnitTest.java deleted file mode 100644 index 0026a2b6a..000000000 --- a/public/java/test/org/broadinstitute/sting/utils/recalibration/BaseRecalibrationUnitTest.java +++ /dev/null @@ -1,290 +0,0 @@ -package org.broadinstitute.sting.utils.recalibration; - -import org.broadinstitute.sting.gatk.walkers.bqsr.*; -import org.broadinstitute.sting.utils.QualityUtils; -import org.broadinstitute.sting.utils.Utils; -import org.broadinstitute.sting.utils.collections.NestedHashMap; -import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; -import org.broadinstitute.sting.utils.sam.GATKSAMRecord; -import org.broadinstitute.sting.utils.sam.ReadUtils; -import org.testng.Assert; -import org.testng.annotations.BeforeClass; -import org.testng.annotations.Test; - -import java.util.*; - -/** - * Unit tests for on-the-fly recalibration. - * - * @author Mauricio Carneiro - * @since 3/16/12 - */ -public class BaseRecalibrationUnitTest { - - private org.broadinstitute.sting.gatk.walkers.recalibration.RecalDataManager dataManager; - private LinkedHashMap> keysAndTablesMap; - - private ReadGroupCovariate rgCovariate; - private QualityScoreCovariate qsCovariate; - private ContextCovariate cxCovariate; - private CycleCovariate cyCovariate; - - private GATKSAMRecord read = ReadUtils.createRandomRead(10000); - private BaseRecalibration baseRecalibration; - private ReadCovariates readCovariates; - - - @BeforeClass - public void init() { - GATKSAMReadGroupRecord rg = new GATKSAMReadGroupRecord("rg"); - rg.setPlatform("illumina"); - read.setReadGroup(rg); - - byte[] quals = new byte[read.getReadLength()]; - for (int i = 0; i < read.getReadLength(); i++) - quals[i] = 20; - read.setBaseQualities(quals); - - RecalibrationArgumentCollection RAC = new RecalibrationArgumentCollection(); - List requiredCovariates = new ArrayList(); - List optionalCovariates = new ArrayList(); - ArrayList requestedCovariates = new ArrayList(); - - dataManager = new org.broadinstitute.sting.gatk.walkers.recalibration.RecalDataManager(true, 4); - keysAndTablesMap = new LinkedHashMap>(); - - rgCovariate = new ReadGroupCovariate(); - rgCovariate.initialize(RAC); - requiredCovariates.add(rgCovariate); - BQSRKeyManager rgKeyManager = new BQSRKeyManager(requiredCovariates, optionalCovariates); - keysAndTablesMap.put(rgKeyManager, new HashMap()); - - qsCovariate = new QualityScoreCovariate(); - qsCovariate.initialize(RAC); - requiredCovariates.add(qsCovariate); - BQSRKeyManager qsKeyManager = new BQSRKeyManager(requiredCovariates, optionalCovariates); - keysAndTablesMap.put(qsKeyManager, new HashMap()); - - cxCovariate = new ContextCovariate(); - cxCovariate.initialize(RAC); - optionalCovariates.add(cxCovariate); - cyCovariate = new CycleCovariate(); - cyCovariate.initialize(RAC); - optionalCovariates.add(cyCovariate); - BQSRKeyManager cvKeyManager = new BQSRKeyManager(requiredCovariates, optionalCovariates); - keysAndTablesMap.put(cvKeyManager, new HashMap()); - - - for (Covariate cov : requiredCovariates) - requestedCovariates.add(cov); - for (Covariate cov : optionalCovariates) - requestedCovariates.add(cov); - - readCovariates = RecalDataManager.computeCovariates(read, requestedCovariates); - - for (int i=0; i> mapEntry : keysAndTablesMap.entrySet()) { - List keys = mapEntry.getKey().bitSetsFromAllKeys(bitKeys, EventType.BASE_SUBSTITUTION); - for (BitSet key : keys) - updateCovariateWithKeySet(mapEntry.getValue(), key, newDatum); - } - } - dataManager.generateEmpiricalQualities(1, QualityUtils.MAX_RECALIBRATED_Q_SCORE); - - List quantizedQuals = new ArrayList(); - List qualCounts = new ArrayList(); - for (byte i = 0; i <= QualityUtils.MAX_QUAL_SCORE; i++) { - quantizedQuals.add(i); - qualCounts.add(1L); - } - QuantizationInfo quantizationInfo = new QuantizationInfo(quantizedQuals, qualCounts); - quantizationInfo.noQuantization(); - baseRecalibration = new BaseRecalibration(quantizationInfo, keysAndTablesMap, requestedCovariates); - - } - - - @Test(enabled=false) - public void testGoldStandardComparison() { - debugTables(); - for (int i = 0; i < read.getReadLength(); i++) { - BitSet [] bitKey = readCovariates.getKeySet(i, EventType.BASE_SUBSTITUTION); - Object [] objKey = buildObjectKey(bitKey); - byte v2 = baseRecalibration.performSequentialQualityCalculation(bitKey, EventType.BASE_SUBSTITUTION); - byte v1 = goldStandardSequentialCalculation(objKey); - Assert.assertEquals(v2, v1); - } - } - - private Object[] buildObjectKey(BitSet[] bitKey) { - Object[] key = new Object[bitKey.length]; - key[0] = rgCovariate.keyFromBitSet(bitKey[0]); - key[1] = qsCovariate.keyFromBitSet(bitKey[1]); - key[2] = cxCovariate.keyFromBitSet(bitKey[2]); - key[3] = cyCovariate.keyFromBitSet(bitKey[3]); - return key; - } - - private void debugTables() { - System.out.println("\nV1 Table\n"); - System.out.println("ReadGroup Table:"); - NestedHashMap nestedTable = dataManager.getCollapsedTable(0); - printNestedHashMap(nestedTable.data, ""); - System.out.println("\nQualityScore Table:"); - nestedTable = dataManager.getCollapsedTable(1); - printNestedHashMap(nestedTable.data, ""); - System.out.println("\nCovariates Table:"); - nestedTable = dataManager.getCollapsedTable(2); - printNestedHashMap(nestedTable.data, ""); - nestedTable = dataManager.getCollapsedTable(3); - printNestedHashMap(nestedTable.data, ""); - - - int i = 0; - System.out.println("\nV2 Table\n"); - for (Map.Entry> mapEntry : keysAndTablesMap.entrySet()) { - BQSRKeyManager keyManager = mapEntry.getKey(); - Map table = mapEntry.getValue(); - switch(i++) { - case 0 : - System.out.println("ReadGroup Table:"); - break; - case 1 : - System.out.println("QualityScore Table:"); - break; - case 2 : - System.out.println("Covariates Table:"); - break; - } - for (Map.Entry entry : table.entrySet()) { - BitSet key = entry.getKey(); - RecalDatum datum = entry.getValue(); - List keySet = keyManager.keySetFrom(key); - System.out.println(String.format("%s => %s", Utils.join(",", keySet), datum) + "," + datum.getEstimatedQReported()); - } - System.out.println(); - } - - - } - - private static void printNestedHashMap(Map table, String output) { - for (Object key : table.keySet()) { - String ret; - if (output.isEmpty()) - ret = "" + key; - else - ret = output + "," + key; - - Object next = table.get(key); - if (next instanceof org.broadinstitute.sting.gatk.walkers.recalibration.RecalDatum) - System.out.println(ret + " => " + next); - else - printNestedHashMap((Map) next, "" + ret); - } - } - - private void updateCovariateWithKeySet(final Map recalTable, final BitSet hashKey, final RecalDatum datum) { - RecalDatum previousDatum = recalTable.get(hashKey); // using the list of covariate values as a key, pick out the RecalDatum from the data HashMap - if (previousDatum == null) // key doesn't exist yet in the map so make a new bucket and add it - recalTable.put(hashKey, datum.copy()); - else - previousDatum.combine(datum); // add one to the number of observations and potentially one to the number of mismatches - } - - /** - * Implements a serial recalibration of the reads using the combinational table. - * First, we perform a positional recalibration, and then a subsequent dinuc correction. - * - * Given the full recalibration table, we perform the following preprocessing steps: - * - * - calculate the global quality score shift across all data [DeltaQ] - * - calculate for each of cycle and dinuc the shift of the quality scores relative to the global shift - * -- i.e., DeltaQ(dinuc) = Sum(pos) Sum(Qual) Qempirical(pos, qual, dinuc) - Qreported(pos, qual, dinuc) / Npos * Nqual - * - The final shift equation is: - * - * Qrecal = Qreported + DeltaQ + DeltaQ(pos) + DeltaQ(dinuc) + DeltaQ( ... any other covariate ... ) - * - * @param key The list of Comparables that were calculated from the covariates - * @return A recalibrated quality score as a byte - */ - private byte goldStandardSequentialCalculation(final Object... key) { - - final byte qualFromRead = (byte) Integer.parseInt(key[1].toString()); - final Object[] readGroupCollapsedKey = new Object[1]; - final Object[] qualityScoreCollapsedKey = new Object[2]; - final Object[] covariateCollapsedKey = new Object[3]; - - // The global quality shift (over the read group only) - readGroupCollapsedKey[0] = key[0]; - final org.broadinstitute.sting.gatk.walkers.recalibration.RecalDatum globalRecalDatum = ((org.broadinstitute.sting.gatk.walkers.recalibration.RecalDatum) dataManager.getCollapsedTable(0).get(readGroupCollapsedKey)); - double globalDeltaQ = 0.0; - if (globalRecalDatum != null) { - final double globalDeltaQEmpirical = globalRecalDatum.getEmpiricalQuality(); - final double aggregrateQReported = globalRecalDatum.getEstimatedQReported(); - globalDeltaQ = globalDeltaQEmpirical - aggregrateQReported; - } - - // The shift in quality between reported and empirical - qualityScoreCollapsedKey[0] = key[0]; - qualityScoreCollapsedKey[1] = key[1]; - final org.broadinstitute.sting.gatk.walkers.recalibration.RecalDatum qReportedRecalDatum = ((org.broadinstitute.sting.gatk.walkers.recalibration.RecalDatum) dataManager.getCollapsedTable(1).get(qualityScoreCollapsedKey)); - double deltaQReported = 0.0; - if (qReportedRecalDatum != null) { - final double deltaQReportedEmpirical = qReportedRecalDatum.getEmpiricalQuality(); - deltaQReported = deltaQReportedEmpirical - qualFromRead - globalDeltaQ; - } - - // The shift in quality due to each covariate by itself in turn - double deltaQCovariates = 0.0; - double deltaQCovariateEmpirical; - covariateCollapsedKey[0] = key[0]; - covariateCollapsedKey[1] = key[1]; - for (int iii = 2; iii < key.length; iii++) { - covariateCollapsedKey[2] = key[iii]; // The given covariate - final org.broadinstitute.sting.gatk.walkers.recalibration.RecalDatum covariateRecalDatum = ((org.broadinstitute.sting.gatk.walkers.recalibration.RecalDatum) dataManager.getCollapsedTable(iii).get(covariateCollapsedKey)); - if (covariateRecalDatum != null) { - deltaQCovariateEmpirical = covariateRecalDatum.getEmpiricalQuality(); - deltaQCovariates += (deltaQCovariateEmpirical - qualFromRead - (globalDeltaQ + deltaQReported)); - } - } - - final double newQuality = qualFromRead + globalDeltaQ + deltaQReported + deltaQCovariates; - return QualityUtils.boundQual((int) Math.round(newQuality), QualityUtils.MAX_RECALIBRATED_Q_SCORE); - - // Verbose printouts used to validate with old recalibrator - //if(key.contains(null)) { - // System.out.println( key + String.format(" => %d + %.2f + %.2f + %.2f + %.2f = %d", - // qualFromRead, globalDeltaQ, deltaQReported, deltaQPos, deltaQDinuc, newQualityByte)); - //} - //else { - // System.out.println( String.format("%s %s %s %s => %d + %.2f + %.2f + %.2f + %.2f = %d", - // key.get(0).toString(), key.get(3).toString(), key.get(2).toString(), key.get(1).toString(), qualFromRead, globalDeltaQ, deltaQReported, deltaQPos, deltaQDinuc, newQualityByte) ); - //} - - //return newQualityByte; - } - - public static double calcEmpiricalQual(final int observations, final int errors) { - final int smoothing = 1; - final double doubleMismatches = (double) (errors + smoothing); - final double doubleObservations = (double) ( observations + smoothing ); - double empiricalQual = -10 * Math.log10(doubleMismatches / doubleObservations); - return Math.min(QualityUtils.MAX_RECALIBRATED_Q_SCORE, empiricalQual); - } -} diff --git a/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypeLikelihoodsUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypeLikelihoodsUnitTest.java index 531626540..69f42e1f9 100755 --- a/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypeLikelihoodsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypeLikelihoodsUnitTest.java @@ -33,7 +33,6 @@ import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.exceptions.UserException; import org.testng.Assert; import org.testng.annotations.Test; -import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import java.util.EnumMap; @@ -48,14 +47,14 @@ public class GenotypeLikelihoodsUnitTest { @Test public void testFromVector2() { - GenotypeLikelihoods gl = new GenotypeLikelihoods(v); + GenotypeLikelihoods gl = GenotypeLikelihoods.fromLog10Likelihoods(v); assertDoubleArraysAreEqual(gl.getAsVector(), v); Assert.assertEquals(gl.getAsString(), vPLString); } @Test public void testFromString1() { - GenotypeLikelihoods gl = new GenotypeLikelihoods(vPLString); + GenotypeLikelihoods gl = GenotypeLikelihoods.fromPLField(vPLString); assertDoubleArraysAreEqual(gl.getAsVector(), new double[]{-9.3, 0, -3.9}); Assert.assertEquals(gl.getAsString(), vPLString); } @@ -69,28 +68,28 @@ public class GenotypeLikelihoodsUnitTest { @Test (expectedExceptions = UserException.MalformedVCF.class) public void testErrorBadFormat() { - GenotypeLikelihoods gl = new GenotypeLikelihoods("adf,b,c"); + GenotypeLikelihoods gl = GenotypeLikelihoods.fromPLField("adf,b,c"); gl.getAsVector(); } @Test public void testGetAsMap(){ - GenotypeLikelihoods gl = new GenotypeLikelihoods(v); + GenotypeLikelihoods gl = GenotypeLikelihoods.fromLog10Likelihoods(v); //Log scale - EnumMap glMap = gl.getAsMap(false); - Assert.assertEquals(v[Genotype.Type.HOM_REF.ordinal()-1],glMap.get(Genotype.Type.HOM_REF)); - Assert.assertEquals(v[Genotype.Type.HET.ordinal()-1],glMap.get(Genotype.Type.HET)); - Assert.assertEquals(v[Genotype.Type.HOM_VAR.ordinal()-1],glMap.get(Genotype.Type.HOM_VAR)); + EnumMap glMap = gl.getAsMap(false); + Assert.assertEquals(v[GenotypeType.HOM_REF.ordinal()-1],glMap.get(GenotypeType.HOM_REF)); + Assert.assertEquals(v[GenotypeType.HET.ordinal()-1],glMap.get(GenotypeType.HET)); + Assert.assertEquals(v[GenotypeType.HOM_VAR.ordinal()-1],glMap.get(GenotypeType.HOM_VAR)); //Linear scale glMap = gl.getAsMap(true); double [] vl = MathUtils.normalizeFromLog10(v); - Assert.assertEquals(vl[Genotype.Type.HOM_REF.ordinal()-1],glMap.get(Genotype.Type.HOM_REF)); - Assert.assertEquals(vl[Genotype.Type.HET.ordinal()-1],glMap.get(Genotype.Type.HET)); - Assert.assertEquals(vl[Genotype.Type.HOM_VAR.ordinal()-1],glMap.get(Genotype.Type.HOM_VAR)); + Assert.assertEquals(vl[GenotypeType.HOM_REF.ordinal()-1],glMap.get(GenotypeType.HOM_REF)); + Assert.assertEquals(vl[GenotypeType.HET.ordinal()-1],glMap.get(GenotypeType.HET)); + Assert.assertEquals(vl[GenotypeType.HOM_VAR.ordinal()-1],glMap.get(GenotypeType.HOM_VAR)); //Test missing likelihoods - gl = new GenotypeLikelihoods("."); + gl = GenotypeLikelihoods.fromPLField("."); glMap = gl.getAsMap(false); Assert.assertNull(glMap); @@ -101,30 +100,30 @@ public class GenotypeLikelihoodsUnitTest { for (int nAlleles=2; nAlleles<=5; nAlleles++) // simplest case: diploid - Assert.assertEquals(GenotypeLikelihoods.calculateNumLikelihoods(nAlleles, 2), nAlleles*(nAlleles+1)/2); + Assert.assertEquals(GenotypeLikelihoods.numLikelihoods(nAlleles, 2), nAlleles*(nAlleles+1)/2); // some special cases: ploidy = 20, #alleles = 4 - Assert.assertEquals(GenotypeLikelihoods.calculateNumLikelihoods(4, 20), 1771); + Assert.assertEquals(GenotypeLikelihoods.numLikelihoods(4, 20), 1771); } @Test public void testGetLog10GQ(){ - GenotypeLikelihoods gl = new GenotypeLikelihoods(vPLString); + GenotypeLikelihoods gl = GenotypeLikelihoods.fromPLField(vPLString); //GQ for the best guess genotype - Assert.assertEquals(gl.getLog10GQ(Genotype.Type.HET),-3.9); + Assert.assertEquals(gl.getLog10GQ(GenotypeType.HET),-3.9); double[] test = MathUtils.normalizeFromLog10(gl.getAsVector()); //GQ for the other genotypes - Assert.assertEquals(gl.getLog10GQ(Genotype.Type.HOM_REF), Math.log10(1.0 - test[Genotype.Type.HOM_REF.ordinal()-1])); - Assert.assertEquals(gl.getLog10GQ(Genotype.Type.HOM_VAR), Math.log10(1.0 - test[Genotype.Type.HOM_VAR.ordinal()-1])); + Assert.assertEquals(gl.getLog10GQ(GenotypeType.HOM_REF), Math.log10(1.0 - test[GenotypeType.HOM_REF.ordinal()-1])); + Assert.assertEquals(gl.getLog10GQ(GenotypeType.HOM_VAR), Math.log10(1.0 - test[GenotypeType.HOM_VAR.ordinal()-1])); //Test missing likelihoods - gl = new GenotypeLikelihoods("."); - Assert.assertEquals(gl.getLog10GQ(Genotype.Type.HOM_REF),Double.NEGATIVE_INFINITY); - Assert.assertEquals(gl.getLog10GQ(Genotype.Type.HET),Double.NEGATIVE_INFINITY); - Assert.assertEquals(gl.getLog10GQ(Genotype.Type.HOM_VAR),Double.NEGATIVE_INFINITY); + gl = GenotypeLikelihoods.fromPLField("."); + Assert.assertEquals(gl.getLog10GQ(GenotypeType.HOM_REF),Double.NEGATIVE_INFINITY); + Assert.assertEquals(gl.getLog10GQ(GenotypeType.HET),Double.NEGATIVE_INFINITY); + Assert.assertEquals(gl.getLog10GQ(GenotypeType.HOM_VAR),Double.NEGATIVE_INFINITY); } @@ -135,7 +134,7 @@ public class GenotypeLikelihoodsUnitTest { double[] expectedQuals = new double[]{-0.04100161, -1, -0.003930294}; for ( int i = 0; i < likelihoods.length; i++ ) { - Assert.assertEquals(GenotypeLikelihoods.getQualFromLikelihoods(i, likelihoods), expectedQuals[i], 1e-6, + Assert.assertEquals(GenotypeLikelihoods.getGQLog10FromLikelihoods(i, likelihoods), expectedQuals[i], 1e-6, "GQ value for genotype " + i + " was not calculated correctly"); } } diff --git a/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypeUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypeUnitTest.java index e0a037105..e511a7f30 100644 --- a/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypeUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypeUnitTest.java @@ -48,6 +48,26 @@ public class GenotypeUnitTest extends BaseTest { T = Allele.create("T"); } + private static final GenotypeBuilder makeGB() { + return new GenotypeBuilder("misc"); + } + + @Test + public void testFilters() { + Assert.assertFalse(makeGB().make().isFiltered(), "by default Genotypes must be PASS"); + Assert.assertNull(makeGB().make().getFilters(), "by default Genotypes must be PASS => getFilters() == null"); + Assert.assertFalse(makeGB().filter(null).make().isFiltered(), "setting filter == null => Genotypes must be PASS"); + Assert.assertNull(makeGB().filter(null).make().getFilters(), "Genotypes PASS => getFilters == null"); + Assert.assertFalse(makeGB().filter("PASS").make().isFiltered(), "setting filter == PASS => Genotypes must be PASS"); + Assert.assertNull(makeGB().filter("PASS").make().getFilters(), "Genotypes PASS => getFilters == null"); + Assert.assertTrue(makeGB().filter("x").make().isFiltered(), "setting filter != null => Genotypes must be PASS"); + Assert.assertEquals(makeGB().filter("x").make().getFilters(), "x", "Should get back the expected filter string"); + Assert.assertEquals(makeGB().filters("x", "y").make().getFilters(), "x;y", "Multiple filter field values should be joined with ;"); + Assert.assertEquals(makeGB().filters("x", "y", "z").make().getFilters(), "x;y;z", "Multiple filter field values should be joined with ;"); + Assert.assertTrue(makeGB().filters("x", "y", "z").make().isFiltered(), "Multiple filter values should be filtered"); + Assert.assertEquals(makeGB().filter("x;y;z").make().getFilters(), "x;y;z", "Multiple filter field values should be joined with ;"); + } + // public Genotype(String sampleName, List alleles, double negLog10PError, Set filters, Map attributes, boolean isPhased) { // public Genotype(String sampleName, List alleles, double negLog10PError, Set filters, Map attributes, boolean isPhased, double[] log10Likelihoods) { // public Genotype(String sampleName, List alleles, double negLog10PError, double[] log10Likelihoods) @@ -74,9 +94,9 @@ public class GenotypeUnitTest extends BaseTest { // public boolean hasLog10PError() // public double getLog10PError() // public double getPhredScaledQual() -// public boolean hasAttribute(String key) -// public Object getAttribute(String key) -// public Object getAttribute(String key, Object defaultValue) +// public boolean hasExtendedAttribute(String key) +// public Object getExtendedAttribute(String key) +// public Object getExtendedAttribute(String key, Object defaultValue) // public String getAttributeAsString(String key, String defaultValue) // public int getAttributeAsInt(String key, int defaultValue) // public double getAttributeAsDouble(String key, double defaultValue) diff --git a/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypesContextUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypesContextUnitTest.java index ee0a5dfe0..6ccfd87ce 100644 --- a/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypesContextUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/variantcontext/GenotypesContextUnitTest.java @@ -51,13 +51,13 @@ public class GenotypesContextUnitTest extends BaseTest { C = Allele.create("C"); Aref = Allele.create("A", true); T = Allele.create("T"); - AA = new Genotype("AA", Arrays.asList(Aref, Aref)); - AT = new Genotype("AT", Arrays.asList(Aref, T)); - TT = new Genotype("TT", Arrays.asList(T, T)); - AC = new Genotype("AC", Arrays.asList(Aref, C)); - CT = new Genotype("CT", Arrays.asList(C, T)); - CC = new Genotype("CC", Arrays.asList(C, C)); - MISSING = new Genotype("MISSING", Arrays.asList(C, C)); + AA = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); + AT = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); + TT = GenotypeBuilder.create("TT", Arrays.asList(T, T)); + AC = GenotypeBuilder.create("AC", Arrays.asList(Aref, C)); + CT = GenotypeBuilder.create("CT", Arrays.asList(C, T)); + CC = GenotypeBuilder.create("CC", Arrays.asList(C, C)); + MISSING = GenotypeBuilder.create("MISSING", Arrays.asList(C, C)); allGenotypes = Arrays.asList(AA, AT, TT, AC, CT, CC); } @@ -223,8 +223,8 @@ public class GenotypesContextUnitTest extends BaseTest { @Test(enabled = true, dataProvider = "GenotypesContextProvider") public void testAdds(GenotypesContextProvider cfg) { - Genotype add1 = new Genotype("add1", Arrays.asList(Aref, Aref)); - Genotype add2 = new Genotype("add2", Arrays.asList(Aref, Aref)); + Genotype add1 = GenotypeBuilder.create("add1", Arrays.asList(Aref, Aref)); + Genotype add2 = GenotypeBuilder.create("add2", Arrays.asList(Aref, Aref)); GenotypesContext gc = cfg.makeContext(); gc.add(add1); @@ -279,7 +279,7 @@ public class GenotypesContextUnitTest extends BaseTest { @Test(enabled = true, dataProvider = "GenotypesContextProvider") public void testSet(GenotypesContextProvider cfg) { - Genotype set = new Genotype("replace", Arrays.asList(Aref, Aref)); + Genotype set = GenotypeBuilder.create("replace", Arrays.asList(Aref, Aref)); int n = cfg.makeContext().size(); for ( int i = 0; i < n; i++ ) { GenotypesContext gc = cfg.makeContext(); @@ -297,7 +297,7 @@ public class GenotypesContextUnitTest extends BaseTest { for ( int i = 0; i < n; i++ ) { GenotypesContext gc = cfg.makeContext(); Genotype toReplace = gc.get(i); - Genotype replacement = new Genotype(toReplace.getSampleName(), Arrays.asList(Aref, Aref)); + Genotype replacement = GenotypeBuilder.create(toReplace.getSampleName(), Arrays.asList(Aref, Aref)); gc.replace(replacement); ArrayList l = new ArrayList(cfg.initialSamples); l.set(i, replacement); diff --git a/public/java/test/org/broadinstitute/sting/utils/variantcontext/VCFJarClassLoadingUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/variantcontext/VCFJarClassLoadingUnitTest.java index a45aa4d4c..fa5476150 100644 --- a/public/java/test/org/broadinstitute/sting/utils/variantcontext/VCFJarClassLoadingUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/variantcontext/VCFJarClassLoadingUnitTest.java @@ -50,10 +50,12 @@ public class VCFJarClassLoadingUnitTest { ClassLoader classLoader = new URLClassLoader(jarURLs, null); classLoader.loadClass("org.broadinstitute.sting.utils.variantcontext.VariantContext"); +// TODO -- uncomment when we include BCF2 codec +// classLoader.loadClass("org.broadinstitute.sting.utils.codecs.bcf2.BCF2Codec"); classLoader.loadClass("org.broadinstitute.sting.utils.codecs.vcf.VCFCodec"); classLoader.loadClass("org.broadinstitute.sting.utils.codecs.vcf.VCF3Codec"); - classLoader.loadClass("org.broadinstitute.sting.utils.codecs.vcf.VCFWriter"); - classLoader.loadClass("org.broadinstitute.sting.utils.codecs.vcf.StandardVCFWriter"); + classLoader.loadClass("org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter"); + classLoader.loadClass("org.broadinstitute.sting.utils.variantcontext.writer.VCFWriter"); } /** diff --git a/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextBenchmark.java b/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextBenchmark.java index a71949369..7c522eadf 100644 --- a/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextBenchmark.java +++ b/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextBenchmark.java @@ -78,30 +78,31 @@ public class VariantContextBenchmark extends SimpleBenchmark { private GenomeLocParser b37GenomeLocParser; @Override protected void setUp() { - try { - ReferenceSequenceFile seq = new CachingIndexedFastaSequenceFile(new File(BaseTest.b37KGReference)); - b37GenomeLocParser = new GenomeLocParser(seq); - } catch ( FileNotFoundException e) { - throw new RuntimeException(e); - } - - // read it into a String so that we don't try to benchmark IO issues - try { - FileInputStream s = new FileInputStream(new File(vcfFile)); - AsciiLineReader lineReader = new AsciiLineReader(s); - int counter = 0; - StringBuffer sb = new StringBuffer(); - while (counter++ < linesToRead ) { - String line = lineReader.readLine(); - if ( line == null ) - break; - sb.append(line + "\n"); - } - s.close(); - INPUT_STRING = sb.toString(); - } catch (IOException e) { - throw new RuntimeException(e); - } + // TODO -- update for new tribble interface +// try { +// ReferenceSequenceFile seq = new CachingIndexedFastaSequenceFile(new File(BaseTest.b37KGReference)); +// b37GenomeLocParser = new GenomeLocParser(seq); +// } catch ( FileNotFoundException e) { +// throw new RuntimeException(e); +// } +// +// // read it into a String so that we don't try to benchmark IO issues +// try { +// FileInputStream s = new FileInputStream(new File(vcfFile)); +// AsciiLineReader lineReader = new AsciiLineReader(s); +// int counter = 0; +// StringBuffer sb = new StringBuffer(); +// while (counter++ < linesToRead ) { +// String line = lineReader.readLine(); +// if ( line == null ) +// break; +// sb.append(line + "\n"); +// } +// s.close(); +// INPUT_STRING = sb.toString(); +// } catch (IOException e) { +// throw new RuntimeException(e); +// } } private interface FunctionToBenchmark { @@ -109,23 +110,24 @@ public class VariantContextBenchmark extends SimpleBenchmark { } private void runBenchmark(FeatureCodec codec, FunctionToBenchmark func) { - try { - InputStream is = new ByteArrayInputStream(INPUT_STRING.getBytes()); - AsciiLineReader lineReader = new AsciiLineReader(is); - codec.readHeader(lineReader); - - int counter = 0; - while (counter++ < linesToRead ) { - String line = lineReader.readLine(); - if ( line == null ) - break; - - T vc = codec.decode(line); - func.run(vc); - } - } catch (Exception e) { - System.out.println("Benchmarking run failure because of " + e.getMessage()); - } + // TODO -- update for new Tribble interface +// try { +// InputStream is = new ByteArrayInputStream(INPUT_STRING.getBytes()); +// AsciiLineReader lineReader = new AsciiLineReader(is); +// codec.readHeader(lineReader); +// +// int counter = 0; +// while (counter++ < linesToRead ) { +// String line = lineReader.readLine(); +// if ( line == null ) +// break; +// +// T vc = codec.decode(line); +// func.run(vc); +// } +// } catch (Exception e) { +// System.out.println("Benchmarking run failure because of " + e.getMessage()); +// } } public void timeV14(int rep) { @@ -150,7 +152,7 @@ public class VariantContextBenchmark extends SimpleBenchmark { public void run(final VariantContext vc) { if ( samples == null ) samples = new HashSet(new ArrayList(vc.getSampleNames()).subList(0, nSamplesToTake)); - VariantContext sub = vc.subContextFromSamples(samples); + VariantContext sub = vc.subContextFromSamples(samples, true); sub.getNSamples(); } }; @@ -228,7 +230,7 @@ public class VariantContextBenchmark extends SimpleBenchmark { for ( int i = 0; i < dupsToMerge; i++ ) { GenotypesContext gc = GenotypesContext.create(vc.getNSamples()); for ( final Genotype g : vc.getGenotypes() ) { - gc.add(new Genotype(g.getSampleName()+"_"+i, g)); + gc.add(new GenotypeBuilder(g).name(g.getSampleName()+"_"+i).make()); } toMerge.add(new VariantContextBuilder(vc).genotypes(gc).make()); } @@ -313,7 +315,7 @@ public class VariantContextBenchmark extends SimpleBenchmark { // case GET_ATTRIBUTE_STRING: // return new FunctionToBenchmark() { // public void run(final org.broadinstitute.sting.utils.variantcontext.v13.VariantContext vc) { -// vc.getAttribute("AN", null); +// vc.getExtendedAttribute("AN", null); // } // }; // diff --git a/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextTestProvider.java b/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextTestProvider.java new file mode 100644 index 000000000..c436a7b45 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextTestProvider.java @@ -0,0 +1,926 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.variantcontext; + +import org.apache.log4j.Logger; +import org.broad.tribble.FeatureCodec; +import org.broad.tribble.FeatureCodecHeader; +import org.broad.tribble.readers.PositionalBufferedStream; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Codec; +import org.broadinstitute.sting.utils.codecs.vcf.*; +import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.sting.utils.variantcontext.writer.Options; +import org.broadinstitute.sting.utils.variantcontext.writer.VariantContextWriter; +import org.testng.Assert; + +import java.io.File; +import java.io.FileInputStream; +import java.io.IOException; +import java.util.*; + +/** + * Routines for generating all sorts of VCs for testing + * + * @author Your Name + * @since Date created + */ +public class VariantContextTestProvider { + final protected static Logger logger = Logger.getLogger(VariantContextTestProvider.class); + + final private static boolean ENABLE_GENOTYPE_TESTS = true; + final private static boolean ENABLE_A_AND_G_TESTS = true; + final private static boolean ENABLE_VARARRAY_TESTS = true; + final private static boolean ENABLE_PLOIDY_TESTS = true; + final private static boolean ENABLE_PL_TESTS = true; + final private static boolean ENABLE_SYMBOLIC_ALLELE_TESTS = true; + final private static boolean ENABLE_SOURCE_VCF_TESTS = true; + final private static boolean ENABLE_VARIABLE_LENGTH_GENOTYPE_STRING_TESTS = true; + final private static List TWENTY_INTS = Arrays.asList(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20); + + private static VCFHeader syntheticHeader; + final static List TEST_DATAs = new ArrayList(); + private static VariantContext ROOT; + + private final static List testSourceVCFs = new ArrayList(); + static { + testSourceVCFs.add(new File(BaseTest.privateTestDir + "ILLUMINA.wex.broad_phase2_baseline.20111114.both.exome.genotypes.1000.vcf")); + testSourceVCFs.add(new File(BaseTest.privateTestDir + "ex2.vcf")); + testSourceVCFs.add(new File(BaseTest.privateTestDir + "dbsnp_135.b37.1000.vcf")); + if ( ENABLE_SYMBOLIC_ALLELE_TESTS ) { + testSourceVCFs.add(new File(BaseTest.privateTestDir + "diagnosis_targets_testfile.vcf")); + testSourceVCFs.add(new File(BaseTest.privateTestDir + "VQSR.mixedTest.recal")); + } + } + + public abstract static class VariantContextIOTest { + public String toString() { + return "VariantContextIOTest:" + getExtension(); + } + public abstract String getExtension(); + public abstract FeatureCodec makeCodec(); + public abstract VariantContextWriter makeWriter(final File outputFile, final EnumSet baseOptions); + + public List preprocess(final VCFHeader header, List vcsBeforeIO) { + return vcsBeforeIO; + } + + public List postprocess(final VCFHeader header, List vcsAfterIO) { + return vcsAfterIO; + } + } + + public static class VariantContextTestData { + public final VCFHeader header; + public List vcs; + + public VariantContextTestData(final VCFHeader header, final VariantContextBuilder builder) { + this(header, Collections.singletonList(builder.fullyDecoded(true).make())); + } + + public VariantContextTestData(final VCFHeader header, final List vcs) { + final Set samples = new HashSet(); + for ( final VariantContext vc : vcs ) + if ( vc.hasGenotypes() ) + samples.addAll(vc.getSampleNames()); + this.header = samples.isEmpty() ? header : new VCFHeader(header.getMetaDataInSortedOrder(), samples); + this.vcs = vcs; + } + + public boolean hasGenotypes() { + return vcs.get(0).hasGenotypes(); + } + + public String toString() { + StringBuilder b = new StringBuilder(); + b.append("VariantContextTestData: ["); + final VariantContext vc = vcs.get(0); + final VariantContextBuilder builder = new VariantContextBuilder(vc); + builder.noGenotypes(); + b.append(builder.make().toString()); + if ( vc.getNSamples() < 5 ) { + for ( final Genotype g : vc.getGenotypes() ) + b.append(g.toString()); + } else { + b.append(" nGenotypes = ").append(vc.getNSamples()); + } + + if ( vcs.size() > 1 ) b.append(" ----- with another ").append(vcs.size() - 1).append(" VariantContext records"); + b.append("]"); + return b.toString(); + } + } + + private final static VariantContextBuilder builder() { + return new VariantContextBuilder(ROOT); + } + + private final static void add(VariantContextBuilder builder) { + TEST_DATAs.add(new VariantContextTestData(syntheticHeader, builder)); + } + + public static void initializeTests() throws IOException { + createSyntheticHeader(); + makeSyntheticTests(); + makeEmpiricalTests(); + } + + private static void makeEmpiricalTests() throws IOException { + if ( ENABLE_SOURCE_VCF_TESTS ) { + for ( final File file : testSourceVCFs ) { + VCFCodec codec = new VCFCodec(); + Pair> x = readAllVCs( file, codec ); + List fullyDecoded = new ArrayList(); + + logger.warn("Reading records from " + file); + for ( final VariantContext raw : x.getSecond() ) { + if ( raw != null ) + fullyDecoded.add(raw.fullyDecode(x.getFirst(), false)); + } + logger.warn("Done reading " + file); + + TEST_DATAs.add(new VariantContextTestData(x.getFirst(), fullyDecoded)); + } + } + } + + private final static void addHeaderLine(final Set metaData, final String id, final int count, final VCFHeaderLineType type) { + metaData.add(new VCFInfoHeaderLine(id, count, type, "x")); + if ( type != VCFHeaderLineType.Flag ) + metaData.add(new VCFFormatHeaderLine(id, count, type, "x")); + } + + private final static void addHeaderLine(final Set metaData, final String id, final VCFHeaderLineCount count, final VCFHeaderLineType type) { + metaData.add(new VCFInfoHeaderLine(id, count, type, "x")); + if ( type != VCFHeaderLineType.Flag ) + metaData.add(new VCFFormatHeaderLine(id, count, type, "x")); + } + + private static void createSyntheticHeader() { + Set metaData = new TreeSet(); + + addHeaderLine(metaData, "STRING1", 1, VCFHeaderLineType.String); + addHeaderLine(metaData, "END", 1, VCFHeaderLineType.Integer); + addHeaderLine(metaData, "STRING3", 3, VCFHeaderLineType.String); + addHeaderLine(metaData, "STRING20", 20, VCFHeaderLineType.String); + addHeaderLine(metaData, "VAR.INFO.STRING", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String); + + addHeaderLine(metaData, "GT", 1, VCFHeaderLineType.String); + addHeaderLine(metaData, "GQ", 1, VCFHeaderLineType.Integer); + addHeaderLine(metaData, "ADA", VCFHeaderLineCount.A, VCFHeaderLineType.Integer); + addHeaderLine(metaData, "PL", VCFHeaderLineCount.G, VCFHeaderLineType.Integer); + addHeaderLine(metaData, "GS", 2, VCFHeaderLineType.String); + addHeaderLine(metaData, "GV", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String); + addHeaderLine(metaData, "FT", 1, VCFHeaderLineType.String); + + // prep the header + metaData.add(new VCFContigHeaderLine(VCFHeader.CONTIG_KEY, Collections.singletonMap("ID", "1"), 0)); + + metaData.add(new VCFFilterHeaderLine("FILTER1")); + metaData.add(new VCFFilterHeaderLine("FILTER2")); + + addHeaderLine(metaData, "INT1", 1, VCFHeaderLineType.Integer); + addHeaderLine(metaData, "INT3", 3, VCFHeaderLineType.Integer); + addHeaderLine(metaData, "INT20", 20, VCFHeaderLineType.Integer); + addHeaderLine(metaData, "INT.VAR", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer); + addHeaderLine(metaData, "FLOAT1", 1, VCFHeaderLineType.Float); + addHeaderLine(metaData, "FLOAT3", 3, VCFHeaderLineType.Float); + addHeaderLine(metaData, "FLAG", 0, VCFHeaderLineType.Flag); + + syntheticHeader = new VCFHeader(metaData); + } + + + private static void makeSyntheticTests() { + VariantContextBuilder rootBuilder = new VariantContextBuilder(); + rootBuilder.source("test"); + rootBuilder.loc("1", 10, 10); + rootBuilder.alleles("A", "C"); + rootBuilder.unfiltered(); + ROOT = rootBuilder.make(); + + add(builder()); + add(builder().alleles("A")); + add(builder().alleles("A", "C", "T")); + add(builder().alleles("-", "C").referenceBaseForIndel("A")); + add(builder().alleles("-", "CAGT").referenceBaseForIndel("A")); + add(builder().loc("1", 10, 11).alleles("C", "-").referenceBaseForIndel("A")); + add(builder().loc("1", 10, 13).alleles("CGT", "-").referenceBaseForIndel("A")); + + // make sure filters work + add(builder().unfiltered()); + add(builder().passFilters()); + add(builder().filters("FILTER1")); + add(builder().filters("FILTER1", "FILTER2")); + + add(builder().log10PError(VariantContext.NO_LOG10_PERROR)); + add(builder().log10PError(-1)); + add(builder().log10PError(-1.234e6)); + + add(builder().noID()); + add(builder().id("rsID12345")); + + + add(builder().attribute("INT1", 1)); + add(builder().attribute("INT1", 100)); + add(builder().attribute("INT1", 1000)); + add(builder().attribute("INT1", 100000)); + add(builder().attribute("INT1", null)); + add(builder().attribute("INT3", Arrays.asList(1, 2, 3))); + add(builder().attribute("INT3", Arrays.asList(1000, 2000, 3000))); + add(builder().attribute("INT3", Arrays.asList(100000, 200000, 300000))); + add(builder().attribute("INT3", null)); + add(builder().attribute("INT20", TWENTY_INTS)); + + add(builder().attribute("FLOAT1", 1.0)); + add(builder().attribute("FLOAT1", 100.0)); + add(builder().attribute("FLOAT1", 1000.0)); + add(builder().attribute("FLOAT1", 100000.0)); + add(builder().attribute("FLOAT1", null)); + add(builder().attribute("FLOAT3", Arrays.asList(1.0, 2.0, 3.0))); + add(builder().attribute("FLOAT3", Arrays.asList(1000.0, 2000.0, 3000.0))); + add(builder().attribute("FLOAT3", Arrays.asList(100000.0, 200000.0, 300000.0))); + add(builder().attribute("FLOAT3", null)); + + add(builder().attribute("FLAG", true)); + //add(builder().attribute("FLAG", false)); // NOTE -- VCF doesn't allow false flags + + add(builder().attribute("STRING1", "s1")); + add(builder().attribute("STRING1", null)); + add(builder().attribute("STRING3", Arrays.asList("s1", "s2", "s3"))); + add(builder().attribute("STRING3", null)); + add(builder().attribute("STRING20", Arrays.asList("s1", "s2", "s3", "s4", "s5", "s6", "s7", "s8", "s9", "s10", "s11", "s12", "s13", "s14", "s15", "s16", "s17", "s18", "s19", "s20"))); + + add(builder().attribute("VAR.INFO.STRING", "s1")); + add(builder().attribute("VAR.INFO.STRING", Arrays.asList("s1", "s2"))); + add(builder().attribute("VAR.INFO.STRING", Arrays.asList("s1", "s2", "s3"))); + add(builder().attribute("VAR.INFO.STRING", null)); + + if ( ENABLE_GENOTYPE_TESTS ) { + addGenotypesToTestData(); + addComplexGenotypesTest(); + } + + if ( ENABLE_A_AND_G_TESTS ) + addGenotypesAndGTests(); + + if ( ENABLE_SYMBOLIC_ALLELE_TESTS ) + addSymbolicAlleleTests(); + } + + private static void addSymbolicAlleleTests() { + // two tests to ensure that the end is computed correctly when there's (and not) an END field present + add(builder().alleles("N", "").start(10).stop(11).attribute("END", 11)); + add(builder().alleles("N", "").start(10).stop(10)); + } + + private static void addGenotypesToTestData() { + final ArrayList sites = new ArrayList(); + + sites.add(builder().alleles("A").make()); + sites.add(builder().alleles("A", "C", "T").make()); + sites.add(builder().alleles("-", "C").referenceBaseForIndel("A").make()); + sites.add(builder().alleles("-", "CAGT").referenceBaseForIndel("A").make()); + + for ( VariantContext site : sites ) { + addGenotypes(site); + } + } + + private static void addGenotypeTests( final VariantContext site, Genotype ... genotypes ) { + // for each sites VC, we are going to add create two root genotypes. + // The first is the primary, and will be added to each new test + // The second is variable. In some tests it's absent (testing 1 genotype), in others it is duplicated + // 1 once, 10, 100, or 1000 times to test scaling + + final VariantContextBuilder builder = new VariantContextBuilder(site); + + // add a single context + builder.genotypes(genotypes[0]); + add(builder); + + if ( genotypes.length > 1 ) { + // add all + add(builder.genotypes(Arrays.asList(genotypes))); + + // add all with the last replicated 10x and 100x times + for ( int nCopiesOfLast : Arrays.asList(10, 100, 1000) ) { + final GenotypesContext gc = new GenotypesContext(); + final Genotype last = genotypes[genotypes.length-1]; + for ( int i = 0; i < genotypes.length - 1; i++ ) + gc.add(genotypes[i]); + for ( int i = 0; i < nCopiesOfLast; i++ ) + gc.add(new GenotypeBuilder(last).name("copy" + i).make()); + add(builder.genotypes(gc)); + } + } + } + + private static void addGenotypes( final VariantContext site) { + // test ref/ref + final Allele ref = site.getReference(); + final Allele alt1 = site.getNAlleles() > 1 ? site.getAlternateAllele(0) : null; + final Genotype homRef = GenotypeBuilder.create("homRef", Arrays.asList(ref, ref)); + addGenotypeTests(site, homRef); + + if ( alt1 != null ) { + final Genotype het = GenotypeBuilder.create("het", Arrays.asList(ref, alt1)); + final Genotype homVar = GenotypeBuilder.create("homVar", Arrays.asList(alt1, alt1)); + addGenotypeTests(site, homRef, het); + addGenotypeTests(site, homRef, het, homVar); + + // test no GT at all + addGenotypeTests(site, new GenotypeBuilder("noGT", new ArrayList(0)).attribute("INT1", 10).make()); + + final List noCall = Arrays.asList(Allele.NO_CALL, Allele.NO_CALL); + + // ploidy + if ( ENABLE_PLOIDY_TESTS ) { + addGenotypeTests(site, + GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), + GenotypeBuilder.create("hap", Arrays.asList(ref))); + + addGenotypeTests(site, + GenotypeBuilder.create("noCall", noCall), + GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), + GenotypeBuilder.create("hap", Arrays.asList(ref))); + + addGenotypeTests(site, + GenotypeBuilder.create("noCall", noCall), + GenotypeBuilder.create("noCall2", noCall), + GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), + GenotypeBuilder.create("hap", Arrays.asList(ref))); + + addGenotypeTests(site, + GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), + GenotypeBuilder.create("tet", Arrays.asList(ref, alt1, alt1))); + + addGenotypeTests(site, + GenotypeBuilder.create("noCall", noCall), + GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), + GenotypeBuilder.create("tet", Arrays.asList(ref, alt1, alt1))); + + addGenotypeTests(site, + GenotypeBuilder.create("noCall", noCall), + GenotypeBuilder.create("noCall2", noCall), + GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), + GenotypeBuilder.create("tet", Arrays.asList(ref, alt1, alt1))); + + addGenotypeTests(site, + GenotypeBuilder.create("nocall", noCall), + GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), + GenotypeBuilder.create("tet", Arrays.asList(ref, alt1, alt1))); + } + + + // + // + // TESTING PHASE + // + // + final Genotype gUnphased = new GenotypeBuilder("gUnphased", Arrays.asList(ref, alt1)).make(); + final Genotype gPhased = new GenotypeBuilder("gPhased", Arrays.asList(ref, alt1)).phased(true).make(); + final Genotype gPhased2 = new GenotypeBuilder("gPhased2", Arrays.asList(alt1, alt1)).phased(true).make(); + final Genotype gPhased3 = new GenotypeBuilder("gPhased3", Arrays.asList(ref, ref)).phased(true).make(); + final Genotype haploidNoPhase = new GenotypeBuilder("haploidNoPhase", Arrays.asList(ref)).make(); + addGenotypeTests(site, gUnphased, gPhased); + addGenotypeTests(site, gUnphased, gPhased2); + addGenotypeTests(site, gUnphased, gPhased3); + addGenotypeTests(site, gPhased, gPhased2); + addGenotypeTests(site, gPhased, gPhased3); + addGenotypeTests(site, gPhased2, gPhased3); + addGenotypeTests(site, haploidNoPhase, gPhased); + addGenotypeTests(site, haploidNoPhase, gPhased2); + addGenotypeTests(site, haploidNoPhase, gPhased3); + addGenotypeTests(site, haploidNoPhase, gPhased, gPhased2); + addGenotypeTests(site, haploidNoPhase, gPhased, gPhased3); + addGenotypeTests(site, haploidNoPhase, gPhased2, gPhased3); + addGenotypeTests(site, haploidNoPhase, gPhased, gPhased2, gPhased3); + + final Genotype gUnphasedTet = new GenotypeBuilder("gUnphasedTet", Arrays.asList(ref, alt1, ref, alt1)).make(); + final Genotype gPhasedTet = new GenotypeBuilder("gPhasedTet", Arrays.asList(ref, alt1, alt1, alt1)).phased(true).make(); + addGenotypeTests(site, gUnphasedTet, gPhasedTet); + } + + if ( ENABLE_PL_TESTS ) { + if ( site.getNAlleles() == 2 ) { + // testing PLs + addGenotypeTests(site, + GenotypeBuilder.create("g1", Arrays.asList(ref, ref), new double[]{0, -1, -2}), + GenotypeBuilder.create("g2", Arrays.asList(ref, ref), new double[]{0, -2, -3})); + + addGenotypeTests(site, + GenotypeBuilder.create("g1", Arrays.asList(ref, ref), new double[]{-1, 0, -2}), + GenotypeBuilder.create("g2", Arrays.asList(ref, ref), new double[]{0, -2, -3})); + + addGenotypeTests(site, + GenotypeBuilder.create("g1", Arrays.asList(ref, ref), new double[]{-1, 0, -2}), + GenotypeBuilder.create("g2", Arrays.asList(ref, ref), new double[]{0, -2000, -1000})); + + addGenotypeTests(site, // missing PLs + GenotypeBuilder.create("g1", Arrays.asList(ref, ref), new double[]{-1, 0, -2}), + GenotypeBuilder.create("g2", Arrays.asList(ref, ref))); + } + else if ( site.getNAlleles() == 3 ) { + // testing PLs + addGenotypeTests(site, + GenotypeBuilder.create("g1", Arrays.asList(ref, ref), new double[]{0, -1, -2, -3, -4, -5}), + GenotypeBuilder.create("g2", Arrays.asList(ref, ref), new double[]{0, -2, -3, -4, -5, -6})); + } + } + + // test attributes + addGenotypeTests(site, + attr("g1", ref, "INT1", 1), + attr("g2", ref, "INT1", 2)); + addGenotypeTests(site, + attr("g1", ref, "INT1", 1), + attr("g2", ref, "INT1")); + addGenotypeTests(site, + attr("g1", ref, "INT3", 1, 2, 3), + attr("g2", ref, "INT3", 4, 5, 6)); + addGenotypeTests(site, + attr("g1", ref, "INT3", 1, 2, 3), + attr("g2", ref, "INT3")); + + addGenotypeTests(site, + attr("g1", ref, "INT20", TWENTY_INTS), + attr("g2", ref, "INT20", TWENTY_INTS)); + + + if (ENABLE_VARARRAY_TESTS) { + addGenotypeTests(site, + attr("g1", ref, "INT.VAR", 1, 2, 3), + attr("g2", ref, "INT.VAR", 4, 5), + attr("g3", ref, "INT.VAR", 6)); + addGenotypeTests(site, + attr("g1", ref, "INT.VAR", 1, 2, 3), + attr("g2", ref, "INT.VAR"), + attr("g3", ref, "INT.VAR", 5)); + } + + addGenotypeTests(site, + attr("g1", ref, "FLOAT1", 1.0), + attr("g2", ref, "FLOAT1", 2.0)); + addGenotypeTests(site, + attr("g1", ref, "FLOAT1", 1.0), + attr("g2", ref, "FLOAT1")); + addGenotypeTests(site, + attr("g1", ref, "FLOAT3", 1.0, 2.0, 3.0), + attr("g2", ref, "FLOAT3", 4.0, 5.0, 6.0)); + addGenotypeTests(site, + attr("g1", ref, "FLOAT3", 1.0, 2.0, 3.0), + attr("g2", ref, "FLOAT3")); + + if (ENABLE_VARIABLE_LENGTH_GENOTYPE_STRING_TESTS) { + // + // + // TESTING MULTIPLE SIZED LISTS IN THE GENOTYPE FIELD + // + // + addGenotypeTests(site, + attr("g1", ref, "GS", Arrays.asList("S1", "S2")), + attr("g2", ref, "GS", Arrays.asList("S3", "S4"))); + + addGenotypeTests(site, // g1 is missing the string, and g2 is missing FLOAT1 + attr("g1", ref, "FLOAT1", 1.0), + attr("g2", ref, "GS", Arrays.asList("S3", "S4"))); + + // variable sized lists + addGenotypeTests(site, + attr("g1", ref, "GV", "S1"), + attr("g2", ref, "GV", Arrays.asList("S3", "S4"))); + + addGenotypeTests(site, + attr("g1", ref, "GV", Arrays.asList("S1", "S2")), + attr("g2", ref, "GV", Arrays.asList("S3", "S4", "S5"))); + + addGenotypeTests(site, // missing value in varlist of string + attr("g1", ref, "FLOAT1", 1.0), + attr("g2", ref, "GV", Arrays.asList("S3", "S4", "S5"))); + } + + // + // + // TESTING GENOTYPE FILTERS + // + // + addGenotypeTests(site, + new GenotypeBuilder("g1-x", Arrays.asList(ref, ref)).filters("X").make(), + new GenotypeBuilder("g2-x", Arrays.asList(ref, ref)).filters("X").make()); + addGenotypeTests(site, + new GenotypeBuilder("g1-unft", Arrays.asList(ref, ref)).unfiltered().make(), + new GenotypeBuilder("g2-x", Arrays.asList(ref, ref)).filters("X").make()); + addGenotypeTests(site, + new GenotypeBuilder("g1-unft", Arrays.asList(ref, ref)).unfiltered().make(), + new GenotypeBuilder("g2-xy", Arrays.asList(ref, ref)).filters("X", "Y").make()); + addGenotypeTests(site, + new GenotypeBuilder("g1-unft", Arrays.asList(ref, ref)).unfiltered().make(), + new GenotypeBuilder("g2-x", Arrays.asList(ref, ref)).filters("X").make(), + new GenotypeBuilder("g3-xy", Arrays.asList(ref, ref)).filters("X", "Y").make()); + } + + private static void addGenotypesAndGTests() { +// for ( final int ploidy : Arrays.asList(2)) { + for ( final int ploidy : Arrays.asList(1, 2, 3, 4, 5)) { + final List> alleleCombinations = + Arrays.asList( + Arrays.asList("A"), + Arrays.asList("A", "C"), + Arrays.asList("A", "C", "G"), + Arrays.asList("A", "C", "G", "T")); + + for ( final List alleles : alleleCombinations ) { + final VariantContextBuilder vcb = builder().alleles(alleles); + final VariantContext site = vcb.make(); + final int nAlleles = site.getNAlleles(); + final Allele ref = site.getReference(); + + // base genotype is ref/.../ref up to ploidy + final List baseGenotype = new ArrayList(ploidy); + for ( int i = 0; i < ploidy; i++) baseGenotype.add(ref); + final int nPLs = GenotypeLikelihoods.numLikelihoods(nAlleles, ploidy); + + // ada is 0, 1, ..., nAlleles - 1 + final List ada = new ArrayList(nAlleles); + for ( int i = 0; i < nAlleles - 1; i++ ) ada.add(i); + + // pl is 0, 1, ..., up to nPLs (complex calc of nAlleles and ploidy) + final int[] pl = new int[nPLs]; + for ( int i = 0; i < pl.length; i++ ) pl[i] = i; + + final GenotypeBuilder gb = new GenotypeBuilder("ADA_PL_SAMPLE"); + gb.alleles(baseGenotype); + gb.PL(pl); + gb.attribute("ADA", nAlleles == 2 ? ada.get(0) : ada); + vcb.genotypes(gb.make()); + + add(vcb); + } + } + } + + private static Genotype attr(final String name, final Allele ref, final String key, final Object ... value) { + if ( value.length == 0 ) + return GenotypeBuilder.create(name, Arrays.asList(ref, ref)); + else { + final Object toAdd = value.length == 1 ? value[0] : Arrays.asList(value); + return new GenotypeBuilder(name, Arrays.asList(ref, ref)).attribute(key, toAdd).make(); + } + } + + public static List generateSiteTests() { + return TEST_DATAs; + } + + public static void testReaderWriter(final VariantContextIOTest tester, final VariantContextTestData data) throws IOException { + testReaderWriter(tester, data.header, data.vcs, data.vcs, true); + } + + public static void testReaderWriter(final VariantContextIOTest tester, + final VCFHeader header, + final List expected, + final Iterable vcs, + final boolean recurse) throws IOException { + final File tmpFile = File.createTempFile("testReaderWriter", tester.getExtension()); + tmpFile.deleteOnExit(); + + // write expected to disk + final EnumSet options = EnumSet.of(Options.INDEX_ON_THE_FLY); + final VariantContextWriter writer = tester.makeWriter(tmpFile, options); + writeVCsToFile(writer, header, vcs); + + // ensure writing of expected == actual + final Pair> p = readAllVCs(tmpFile, tester.makeCodec()); + final Iterable actual = p.getSecond(); + assertEquals(actual, expected); + + if ( recurse ) { + // if we are doing a recursive test, grab a fresh iterator over the written values + final Iterable read = readAllVCs(tmpFile, tester.makeCodec()).getSecond(); + testReaderWriter(tester, p.getFirst(), expected, read, false); + } + } + + private static void writeVCsToFile(final VariantContextWriter writer, final VCFHeader header, final Iterable vcs) { + // write + writer.writeHeader(header); + for ( VariantContext vc : vcs ) + if (vc != null) + writer.add(vc); + writer.close(); + } + + /** + * Utility class to read all of the VC records from a file + * + * @param source + * @param codec + * @return + * @throws IOException + */ + private final static Pair> readAllVCs( final File source, final FeatureCodec codec ) throws IOException { + // read in the features + PositionalBufferedStream pbs = new PositionalBufferedStream(new FileInputStream(source)); + FeatureCodecHeader header = codec.readHeader(pbs); + pbs.close(); + + pbs = new PositionalBufferedStream(new FileInputStream(source)); + pbs.skip(header.getHeaderEnd()); + + final VCFHeader vcfHeader = (VCFHeader)header.getHeaderValue(); + return new Pair>(vcfHeader, new VCIterable(pbs, codec, vcfHeader)); + } + + private static class VCIterable implements Iterable, Iterator { + final PositionalBufferedStream pbs; + final FeatureCodec codec; + final VCFHeader header; + + private VCIterable(final PositionalBufferedStream pbs, final FeatureCodec codec, final VCFHeader header) { + this.pbs = pbs; + this.codec = codec; + this.header = header; + } + + @Override + public Iterator iterator() { + return this; + } + + @Override + public boolean hasNext() { + try { + return ! pbs.isDone(); + } catch ( IOException e ) { + throw new RuntimeException(e); + } + } + + @Override + public VariantContext next() { + try { + final VariantContext vc = codec.decode(pbs); + return vc == null ? null : vc.fullyDecode(header, false); + } catch ( IOException e ) { + throw new RuntimeException(e); + } + } + + @Override + public void remove() { + //To change body of implemented methods use File | Settings | File Templates. + } + } + + public static void assertVCFandBCFFilesAreTheSame(final File vcfFile, final File bcfFile) throws IOException { + final Pair> vcfData = readAllVCs(vcfFile, new VCFCodec()); + final Pair> bcfData = readAllVCs(bcfFile, new BCF2Codec()); + assertEquals(bcfData.getFirst(), vcfData.getFirst()); + assertEquals(bcfData.getSecond(), vcfData.getSecond()); + } + + public static void assertEquals(final Iterable actual, final Iterable expected) { + final Iterator actualIT = actual.iterator(); + final Iterator expectedIT = expected.iterator(); + + while ( expectedIT.hasNext() ) { + final VariantContext expectedVC = expectedIT.next(); + if ( expectedVC == null ) + continue; + + VariantContext actualVC; + do { + Assert.assertTrue(actualIT.hasNext(), "Too few records found in actual"); + actualVC = actualIT.next(); + } while ( actualIT.hasNext() && actualVC == null ); + + if ( actualVC == null ) + Assert.fail("Too few records in actual"); + + assertEquals(actualVC, expectedVC); + } + Assert.assertTrue(! actualIT.hasNext(), "Too many records found in actual"); + } + + /** + * Assert that two variant contexts are actually equal + * @param actual + * @param expected + */ + public static void assertEquals( final VariantContext actual, final VariantContext expected ) { + Assert.assertNotNull(actual, "VariantContext expected not null"); + Assert.assertEquals(actual.getChr(), expected.getChr(), "chr"); + Assert.assertEquals(actual.getStart(), expected.getStart(), "start"); + Assert.assertEquals(actual.getEnd(), expected.getEnd(), "end"); + Assert.assertEquals(actual.getID(), expected.getID(), "id"); + Assert.assertEquals(actual.getAlleles(), expected.getAlleles(), "alleles"); + + assertAttributesEquals(actual.getAttributes(), expected.getAttributes()); + BaseTest.assertEqualsSet(actual.getFilters(), expected.getFilters(), "filters"); + BaseTest.assertEqualsDoubleSmart(actual.getPhredScaledQual(), expected.getPhredScaledQual()); + + Assert.assertEquals(actual.hasGenotypes(), expected.hasGenotypes(), "hasGenotypes"); + if ( expected.hasGenotypes() ) { + BaseTest.assertEqualsSet(actual.getSampleNames(), expected.getSampleNames(), "sample names set"); + Assert.assertEquals(actual.getSampleNamesOrderedByName(), expected.getSampleNamesOrderedByName(), "sample names"); + final Set samples = expected.getSampleNames(); + for ( final String sample : samples ) { + assertEquals(actual.getGenotype(sample), expected.getGenotype(sample)); + } + } + } + + public static void assertEquals(final Genotype actual, final Genotype expected) { + Assert.assertEquals(actual.getSampleName(), expected.getSampleName(), "Genotype names"); + Assert.assertEquals(actual.getAlleles(), expected.getAlleles(), "Genotype alleles"); + Assert.assertEquals(actual.getGenotypeString(), expected.getGenotypeString(), "Genotype string"); + Assert.assertEquals(actual.getType(), expected.getType(), "Genotype type"); + + // filters are the same + Assert.assertEquals(actual.getFilters(), expected.getFilters(), "Genotype fields"); + Assert.assertEquals(actual.isFiltered(), expected.isFiltered(), "Genotype isFiltered"); + + // inline attributes + Assert.assertEquals(actual.getDP(), expected.getDP(), "Genotype dp"); + Assert.assertEquals(actual.getAD(), expected.getAD(), "Genotype ad"); + Assert.assertEquals(actual.getGQ(), expected.getGQ(), "Genotype gq"); + Assert.assertEquals(actual.hasPL(), expected.hasPL(), "Genotype hasPL"); + Assert.assertEquals(actual.hasAD(), expected.hasAD(), "Genotype hasAD"); + Assert.assertEquals(actual.hasGQ(), expected.hasGQ(), "Genotype hasGQ"); + Assert.assertEquals(actual.hasDP(), expected.hasDP(), "Genotype hasDP"); + + Assert.assertEquals(actual.hasLikelihoods(), expected.hasLikelihoods(), "Genotype haslikelihoods"); + Assert.assertEquals(actual.getLikelihoodsString(), expected.getLikelihoodsString(), "Genotype getlikelihoodsString"); + Assert.assertEquals(actual.getLikelihoods(), expected.getLikelihoods(), "Genotype getLikelihoods"); + Assert.assertEquals(actual.getPL(), expected.getPL(), "Genotype getPL"); + + Assert.assertEquals(actual.getPhredScaledQual(), expected.getPhredScaledQual(), "Genotype phredScaledQual"); + assertAttributesEquals(actual.getExtendedAttributes(), expected.getExtendedAttributes()); + Assert.assertEquals(actual.isPhased(), expected.isPhased(), "Genotype isPhased"); + Assert.assertEquals(actual.getPloidy(), expected.getPloidy(), "Genotype getPloidy"); + } + + private static void assertAttributesEquals(final Map actual, Map expected) { + final Set expectedKeys = new HashSet(expected.keySet()); + + for ( final Map.Entry act : actual.entrySet() ) { + final Object actualValue = act.getValue(); + if ( expected.containsKey(act.getKey()) && expected.get(act.getKey()) != null ) { + final Object expectedValue = expected.get(act.getKey()); + if ( expectedValue instanceof List ) { + final List expectedList = (List)expectedValue; + Assert.assertTrue(actualValue instanceof List, act.getKey() + " should be a list but isn't"); + final List actualList = (List)actualValue; + Assert.assertEquals(actualList.size(), expectedList.size(), act.getKey() + " size"); + for ( int i = 0; i < expectedList.size(); i++ ) + assertAttributeEquals(act.getKey(), actualList.get(i), expectedList.get(i)); + } else + assertAttributeEquals(act.getKey(), actualValue, expectedValue); + } else { + // it's ok to have a binding in x -> null that's absent in y + Assert.assertNull(actualValue, act.getKey() + " present in one but not in the other"); + } + expectedKeys.remove(act.getKey()); + } + + // now expectedKeys contains only the keys found in expected but not in actual, + // and they must all be null + for ( final String missingExpected : expectedKeys ) { + final Object value = expected.get(missingExpected); + Assert.assertTrue(isMissing(value), "Attribute " + missingExpected + " missing in one but not in other" ); + } + } + + private static final boolean isMissing(final Object value) { + if ( value == null ) return true; + else if ( value.equals(VCFConstants.MISSING_VALUE_v4) ) return true; + else if ( value instanceof List ) { + // handles the case where all elements are null or the list is empty + for ( final Object elt : (List)value) + if ( elt != null ) + return false; + return true; + } else + return false; + } + + private static void assertAttributeEquals(final String key, final Object actual, final Object expected) { + if ( expected instanceof Double ) { + // must be very tolerant because doubles are being rounded to 2 sig figs + BaseTest.assertEqualsDoubleSmart(actual, (Double)expected, 1e-2); + } else + Assert.assertEquals(actual, expected, "Attribute " + key); + } + + public static void addComplexGenotypesTest() { + final List allAlleles = Arrays.asList( + Allele.create("A", true), + Allele.create("C", false), + Allele.create("G", false)); + + for ( int nAlleles : Arrays.asList(2, 3) ) { + for ( int highestPloidy : Arrays.asList(1, 2, 3) ) { + // site alleles + final List siteAlleles = allAlleles.subList(0, nAlleles); + + // possible alleles for genotypes + final List possibleGenotypeAlleles = new ArrayList(siteAlleles); + possibleGenotypeAlleles.add(Allele.NO_CALL); + + // there are n^ploidy possible genotypes + final List> possibleGenotypes = makeAllGenotypes(possibleGenotypeAlleles, highestPloidy); + final int nPossibleGenotypes = possibleGenotypes.size(); + + VariantContextBuilder vb = new VariantContextBuilder("unittest", "1", 1, 1, siteAlleles); + + // first test -- create n copies of each genotype + for ( int i = 0; i < nPossibleGenotypes; i++ ) { + final List samples = new ArrayList(3); + samples.add(GenotypeBuilder.create("sample" + i, possibleGenotypes.get(i))); + add(vb.genotypes(samples)); + } + + // second test -- create one sample with each genotype + { + final List samples = new ArrayList(nPossibleGenotypes); + for ( int i = 0; i < nPossibleGenotypes; i++ ) { + samples.add(GenotypeBuilder.create("sample" + i, possibleGenotypes.get(i))); + } + add(vb.genotypes(samples)); + } + + // test mixed ploidy + for ( int i = 0; i < nPossibleGenotypes; i++ ) { + for ( int ploidy = 1; ploidy < highestPloidy; ploidy++ ) { + final List samples = new ArrayList(highestPloidy); + final List genotype = possibleGenotypes.get(i).subList(0, ploidy); + samples.add(GenotypeBuilder.create("sample" + i, genotype)); + add(vb.genotypes(samples)); + } + } + } + } + } + + private static final List> makeAllGenotypes(final List alleles, final int highestPloidy) { + final List> combinations = new ArrayList>(); + if ( highestPloidy == 1 ) { + for ( final Allele a : alleles ) + combinations.add(Collections.singletonList(a)); + } else { + final List> sub = makeAllGenotypes(alleles, highestPloidy - 1); + for ( List subI : sub ) { + for ( final Allele a : alleles ) { + combinations.add(Utils.cons(a, subI)); + } + } + } + return combinations; + } + + public static void assertEquals(final VCFHeader actual, final VCFHeader expected) { + Assert.assertEquals(actual.getMetaDataInSortedOrder().size(), expected.getMetaDataInSortedOrder().size(), "No VCF header lines"); + + // for some reason set.equals() is returning false but all paired elements are .equals(). Perhaps compare to is busted? + //Assert.assertEquals(actual.getMetaDataInInputOrder(), expected.getMetaDataInInputOrder()); + final List actualLines = new ArrayList(actual.getMetaDataInSortedOrder()); + final List expectedLines = new ArrayList(expected.getMetaDataInSortedOrder()); + for ( int i = 0; i < actualLines.size(); i++ ) { + Assert.assertEquals(actualLines.get(i), expectedLines.get(i), "VCF header lines"); + } + } + + public static void main( String argv[] ) { + final File variants1 = new File(argv[0]); + final File variants2 = new File(argv[1]); + try { + VariantContextTestProvider.assertVCFandBCFFilesAreTheSame(variants1, variants2); + } catch ( IOException e ) { + throw new RuntimeException(e); + } + } +} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextUnitTest.java index 0a7427df7..1d290118f 100755 --- a/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextUnitTest.java @@ -7,6 +7,7 @@ package org.broadinstitute.sting.utils.variantcontext; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; +import org.broadinstitute.sting.utils.collections.Pair; import org.testng.annotations.BeforeSuite; import org.testng.annotations.BeforeTest; import org.testng.annotations.BeforeMethod; @@ -275,7 +276,7 @@ public class VariantContextUnitTest extends BaseTest { @Test public void testCreatingPartiallyCalledGenotype() { List alleles = Arrays.asList(Aref, C); - Genotype g = new Genotype("foo", Arrays.asList(C, Allele.NO_CALL)); + Genotype g = GenotypeBuilder.create("foo", Arrays.asList(C, Allele.NO_CALL)); VariantContext vc = new VariantContextBuilder("test", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g).make(); Assert.assertTrue(vc.isSNP()); @@ -292,7 +293,7 @@ public class VariantContextUnitTest extends BaseTest { Assert.assertFalse(vc.getGenotype("foo").isNoCall()); Assert.assertFalse(vc.getGenotype("foo").isHom()); Assert.assertTrue(vc.getGenotype("foo").isMixed()); - Assert.assertEquals(vc.getGenotype("foo").getType(), Genotype.Type.MIXED); + Assert.assertEquals(vc.getGenotype("foo").getType(), GenotypeType.MIXED); } @Test (expectedExceptions = Exception.class) @@ -350,9 +351,9 @@ public class VariantContextUnitTest extends BaseTest { public void testAccessingSimpleSNPGenotypes() { List alleles = Arrays.asList(Aref, T); - Genotype g1 = new Genotype("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = new Genotype("AT", Arrays.asList(Aref, T)); - Genotype g3 = new Genotype("TT", Arrays.asList(T, T)); + Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); + Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); + Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); VariantContext vc = new VariantContextBuilder("test", snpLoc, snpLocStart, snpLocStop, alleles) .genotypes(g1, g2, g3).make(); @@ -387,12 +388,12 @@ public class VariantContextUnitTest extends BaseTest { public void testAccessingCompleteGenotypes() { List alleles = Arrays.asList(Aref, T, del); - Genotype g1 = new Genotype("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = new Genotype("AT", Arrays.asList(Aref, T)); - Genotype g3 = new Genotype("TT", Arrays.asList(T, T)); - Genotype g4 = new Genotype("Td", Arrays.asList(T, del)); - Genotype g5 = new Genotype("dd", Arrays.asList(del, del)); - Genotype g6 = new Genotype("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); + Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); + Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); + Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); + Genotype g4 = GenotypeBuilder.create("Td", Arrays.asList(T, del)); + Genotype g5 = GenotypeBuilder.create("dd", Arrays.asList(del, del)); + Genotype g6 = GenotypeBuilder.create("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); VariantContext vc = new VariantContextBuilder("test", snpLoc, snpLocStart, snpLocStop, alleles) .genotypes(g1, g2, g3, g4, g5, g6).make(); @@ -417,9 +418,9 @@ public class VariantContextUnitTest extends BaseTest { List alleles2 = Arrays.asList(Aref); List alleles3 = Arrays.asList(Aref, T, del); for ( List alleles : Arrays.asList(alleles1, alleles2, alleles3)) { - Genotype g1 = new Genotype("AA1", Arrays.asList(Aref, Aref)); - Genotype g2 = new Genotype("AA2", Arrays.asList(Aref, Aref)); - Genotype g3 = new Genotype("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); + Genotype g1 = GenotypeBuilder.create("AA1", Arrays.asList(Aref, Aref)); + Genotype g2 = GenotypeBuilder.create("AA2", Arrays.asList(Aref, Aref)); + Genotype g3 = GenotypeBuilder.create("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); VariantContext vc = new VariantContextBuilder("test", snpLoc, snpLocStart, snpLocStop, alleles) .genotypes(g1, g2, g3).make(); @@ -438,8 +439,8 @@ public class VariantContextUnitTest extends BaseTest { @Test public void testFilters() { List alleles = Arrays.asList(Aref, T, del); - Genotype g1 = new Genotype("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = new Genotype("AT", Arrays.asList(Aref, T)); + Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); + Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); VariantContext vc = new VariantContextBuilder("test", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g1, g2).make(); @@ -467,14 +468,86 @@ public class VariantContextUnitTest extends BaseTest { Assert.assertNotNull(vc.getFiltersMaybeNull()); } + @Test + public void testRepeatAllele() { + Allele nullR = Allele.create(Allele.NULL_ALLELE_STRING, true); + Allele nullA = Allele.create(Allele.NULL_ALLELE_STRING, false); + Allele atc = Allele.create("ATC", false); + Allele atcatc = Allele.create("ATCATC", false); + Allele ccccR = Allele.create("CCCC", true); + Allele cc = Allele.create("CC", false); + Allele cccccc = Allele.create("CCCCCC", false); + Allele gagaR = Allele.create("GAGA", true); + Allele gagagaga = Allele.create("GAGAGAGA", false); + + Pair,byte[]> result; + byte[] refBytes = "TATCATCATCGGA".getBytes(); + + Assert.assertEquals(VariantContextUtils.findNumberofRepetitions( "ATG".getBytes(), "ATGATGATGATG".getBytes()),4); + Assert.assertEquals(VariantContextUtils.findNumberofRepetitions( "G".getBytes(), "ATGATGATGATG".getBytes()),0); + Assert.assertEquals(VariantContextUtils.findNumberofRepetitions( "T".getBytes(), "T".getBytes()),1); + Assert.assertEquals(VariantContextUtils.findNumberofRepetitions( "AT".getBytes(), "ATGATGATCATG".getBytes()),1); + Assert.assertEquals(VariantContextUtils.findNumberofRepetitions( "CCC".getBytes(), "CCCCCCCC".getBytes()),2); + + Assert.assertEquals(VariantContextUtils.findRepeatedSubstring("ATG".getBytes()),3); + Assert.assertEquals(VariantContextUtils.findRepeatedSubstring("AAA".getBytes()),1); + Assert.assertEquals(VariantContextUtils.findRepeatedSubstring("CACACAC".getBytes()),7); + Assert.assertEquals(VariantContextUtils.findRepeatedSubstring("CACACA".getBytes()),2); + Assert.assertEquals(VariantContextUtils.findRepeatedSubstring("CATGCATG".getBytes()),4); + Assert.assertEquals(VariantContextUtils.findRepeatedSubstring("AATAATA".getBytes()),7); + + + // -*,ATC, context = ATC ATC ATC : (ATC)3 -> (ATC)4 + VariantContext vc = new VariantContextBuilder("foo", insLoc, insLocStart, insLocStop, Arrays.asList(nullR,atc)).make(); + result = VariantContextUtils.getNumTandemRepeatUnits(vc,refBytes); + Assert.assertEquals(result.getFirst().toArray()[0],3); + Assert.assertEquals(result.getFirst().toArray()[1],4); + Assert.assertEquals(result.getSecond().length,3); + + // ATC*,-,ATCATC + vc = new VariantContextBuilder("foo", insLoc, insLocStart, insLocStop, Arrays.asList(ATCref,nullA,atcatc)).make(); + result = VariantContextUtils.getNumTandemRepeatUnits(vc,refBytes); + Assert.assertEquals(result.getFirst().toArray()[0],3); + Assert.assertEquals(result.getFirst().toArray()[1],2); + Assert.assertEquals(result.getFirst().toArray()[2],4); + Assert.assertEquals(result.getSecond().length,3); + + // simple non-tandem deletion: CCCC*, - + refBytes = "TCCCCCCCCATG".getBytes(); + vc = new VariantContextBuilder("foo", delLoc, 10, 14, Arrays.asList(ccccR,nullA)).make(); + result = VariantContextUtils.getNumTandemRepeatUnits(vc,refBytes); + Assert.assertEquals(result.getFirst().toArray()[0],8); + Assert.assertEquals(result.getFirst().toArray()[1],4); + Assert.assertEquals(result.getSecond().length,1); + + // CCCC*,CC,-,CCCCCC, context = CCC: (C)7 -> (C)5,(C)3,(C)9 + refBytes = "TCCCCCCCAGAGAGAG".getBytes(); + vc = new VariantContextBuilder("foo", insLoc, insLocStart, insLocStop, Arrays.asList(ccccR,cc, nullA,cccccc)).make(); + result = VariantContextUtils.getNumTandemRepeatUnits(vc,refBytes); + Assert.assertEquals(result.getFirst().toArray()[0],7); + Assert.assertEquals(result.getFirst().toArray()[1],5); + Assert.assertEquals(result.getFirst().toArray()[2],3); + Assert.assertEquals(result.getFirst().toArray()[3],9); + Assert.assertEquals(result.getSecond().length,1); + + // GAGA*,-,GAGAGAGA + refBytes = "TGAGAGAGAGATTT".getBytes(); + vc = new VariantContextBuilder("foo", insLoc, insLocStart, insLocStop, Arrays.asList(gagaR, nullA,gagagaga)).make(); + result = VariantContextUtils.getNumTandemRepeatUnits(vc,refBytes); + Assert.assertEquals(result.getFirst().toArray()[0],5); + Assert.assertEquals(result.getFirst().toArray()[1],3); + Assert.assertEquals(result.getFirst().toArray()[2],7); + Assert.assertEquals(result.getSecond().length,2); + + } @Test public void testGetGenotypeCounts() { List alleles = Arrays.asList(Aref, T); - Genotype g1 = new Genotype("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = new Genotype("AT", Arrays.asList(Aref, T)); - Genotype g3 = new Genotype("TT", Arrays.asList(T, T)); - Genotype g4 = new Genotype("A.", Arrays.asList(Aref, Allele.NO_CALL)); - Genotype g5 = new Genotype("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); + Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); + Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); + Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); + Genotype g4 = GenotypeBuilder.create("A.", Arrays.asList(Aref, Allele.NO_CALL)); + Genotype g5 = GenotypeBuilder.create("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); // we need to create a new VariantContext each time VariantContext vc = new VariantContextBuilder("foo", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g1,g2,g3,g4,g5).make(); @@ -492,19 +565,19 @@ public class VariantContextUnitTest extends BaseTest { @Test public void testVCFfromGenotypes() { List alleles = Arrays.asList(Aref, T, del); - Genotype g1 = new Genotype("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = new Genotype("AT", Arrays.asList(Aref, T)); - Genotype g3 = new Genotype("TT", Arrays.asList(T, T)); - Genotype g4 = new Genotype("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); - Genotype g5 = new Genotype("--", Arrays.asList(del, del)); + Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); + Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); + Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); + Genotype g4 = GenotypeBuilder.create("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); + Genotype g5 = GenotypeBuilder.create("--", Arrays.asList(del, del)); VariantContext vc = new VariantContextBuilder("genotypes", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g1,g2,g3,g4,g5).make(); - VariantContext vc12 = vc.subContextFromSamples(new HashSet(Arrays.asList(g1.getSampleName(), g2.getSampleName()))); - VariantContext vc1 = vc.subContextFromSamples(new HashSet(Arrays.asList(g1.getSampleName()))); - VariantContext vc23 = vc.subContextFromSamples(new HashSet(Arrays.asList(g2.getSampleName(), g3.getSampleName()))); - VariantContext vc4 = vc.subContextFromSamples(new HashSet(Arrays.asList(g4.getSampleName()))); - VariantContext vc14 = vc.subContextFromSamples(new HashSet(Arrays.asList(g1.getSampleName(), g4.getSampleName()))); - VariantContext vc5 = vc.subContextFromSamples(new HashSet(Arrays.asList(g5.getSampleName()))); + VariantContext vc12 = vc.subContextFromSamples(new HashSet(Arrays.asList(g1.getSampleName(), g2.getSampleName())), true); + VariantContext vc1 = vc.subContextFromSamples(new HashSet(Arrays.asList(g1.getSampleName())), true); + VariantContext vc23 = vc.subContextFromSamples(new HashSet(Arrays.asList(g2.getSampleName(), g3.getSampleName())), true); + VariantContext vc4 = vc.subContextFromSamples(new HashSet(Arrays.asList(g4.getSampleName())), true); + VariantContext vc14 = vc.subContextFromSamples(new HashSet(Arrays.asList(g1.getSampleName(), g4.getSampleName())), true); + VariantContext vc5 = vc.subContextFromSamples(new HashSet(Arrays.asList(g5.getSampleName())), true); Assert.assertTrue(vc12.isPolymorphicInSamples()); Assert.assertTrue(vc23.isPolymorphicInSamples()); @@ -547,9 +620,9 @@ public class VariantContextUnitTest extends BaseTest { } public void testGetGenotypeMethods() { - Genotype g1 = new Genotype("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = new Genotype("AT", Arrays.asList(Aref, T)); - Genotype g3 = new Genotype("TT", Arrays.asList(T, T)); + Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); + Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); + Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); GenotypesContext gc = GenotypesContext.create(g1, g2, g3); VariantContext vc = new VariantContextBuilder("genotypes", snpLoc, snpLocStart, snpLocStop, Arrays.asList(Aref, T)).genotypes(gc).make(); @@ -652,9 +725,9 @@ public class VariantContextUnitTest extends BaseTest { @DataProvider(name = "SitesAndGenotypesVC") public Object[][] MakeSitesAndGenotypesVCs() { - Genotype g1 = new Genotype("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = new Genotype("AT", Arrays.asList(Aref, T)); - Genotype g3 = new Genotype("TT", Arrays.asList(T, T)); + Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); + Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); + Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); VariantContext sites = new VariantContextBuilder("sites", snpLoc, snpLocStart, snpLocStop, Arrays.asList(Aref, T)).make(); VariantContext genotypes = new VariantContextBuilder(sites).source("genotypes").genotypes(g1, g2, g3).make(); @@ -684,16 +757,22 @@ public class VariantContextUnitTest extends BaseTest { modified = new VariantContextBuilder(cfg.vc).filters(newFilters).make(); Assert.assertEquals(modified.getFilters(), newFilters); + // test the behavior when the builder's attribute object is null + modified = new VariantContextBuilder(modified).attributes(null).make(); + Assert.assertTrue(modified.getAttributes().isEmpty()); + modified = new VariantContextBuilder(modified).attributes(null).rmAttribute("AC").make(); + Assert.assertTrue(modified.getAttributes().isEmpty()); + modified = new VariantContextBuilder(modified).attributes(null).attribute("AC", 1).make(); + Assert.assertEquals(modified.getAttribute("AC"), 1); + modified = new VariantContextBuilder(cfg.vc).attribute("AC", 1).make(); Assert.assertEquals(modified.getAttribute("AC"), 1); modified = new VariantContextBuilder(modified).attribute("AC", 2).make(); Assert.assertEquals(modified.getAttribute("AC"), 2); - modified = new VariantContextBuilder(modified).attributes(null).make(); - Assert.assertTrue(modified.getAttributes().isEmpty()); - Genotype g1 = new Genotype("AA2", Arrays.asList(Aref, Aref)); - Genotype g2 = new Genotype("AT2", Arrays.asList(Aref, T)); - Genotype g3 = new Genotype("TT2", Arrays.asList(T, T)); + Genotype g1 = GenotypeBuilder.create("AA2", Arrays.asList(Aref, Aref)); + Genotype g2 = GenotypeBuilder.create("AT2", Arrays.asList(Aref, T)); + Genotype g3 = GenotypeBuilder.create("TT2", Arrays.asList(T, T)); GenotypesContext gc = GenotypesContext.create(g1,g2,g3); modified = new VariantContextBuilder(cfg.vc).genotypes(gc).make(); Assert.assertEquals(modified.getGenotypes(), gc); @@ -751,13 +830,13 @@ public class VariantContextUnitTest extends BaseTest { @Test(dataProvider = "SubContextTest") public void runSubContextTest(SubContextTest cfg) { - Genotype g1 = new Genotype("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = new Genotype("AT", Arrays.asList(Aref, T)); - Genotype g3 = new Genotype("TT", Arrays.asList(T, T)); + Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); + Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); + Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); GenotypesContext gc = GenotypesContext.create(g1, g2, g3); VariantContext vc = new VariantContextBuilder("genotypes", snpLoc, snpLocStart, snpLocStop, Arrays.asList(Aref, T)).genotypes(gc).make(); - VariantContext sub = cfg.updateAlleles ? vc.subContextFromSamples(cfg.samples) : vc.subContextFromSamples(cfg.samples, vc.getAlleles()); + VariantContext sub = vc.subContextFromSamples(cfg.samples, cfg.updateAlleles); // unchanged attributes should be the same Assert.assertEquals(sub.getChr(), vc.getChr()); @@ -838,7 +917,7 @@ public class VariantContextUnitTest extends BaseTest { public void runSampleNamesTest(SampleNamesTest cfg) { GenotypesContext gc = GenotypesContext.create(cfg.sampleNames.size()); for ( final String name : cfg.sampleNames ) { - gc.add(new Genotype(name, Arrays.asList(Aref, T))); + gc.add(GenotypeBuilder.create(name, Arrays.asList(Aref, T))); } VariantContext vc = new VariantContextBuilder("genotypes", snpLoc, snpLocStart, snpLocStop, Arrays.asList(Aref, T)).genotypes(gc).make(); @@ -853,11 +932,11 @@ public class VariantContextUnitTest extends BaseTest { @Test public void testGenotypeCounting() { - Genotype noCall = new Genotype("nocall", Arrays.asList(Allele.NO_CALL)); - Genotype mixed = new Genotype("mixed", Arrays.asList(Aref, Allele.NO_CALL)); - Genotype homRef = new Genotype("homRef", Arrays.asList(Aref, Aref)); - Genotype het = new Genotype("het", Arrays.asList(Aref, T)); - Genotype homVar = new Genotype("homVar", Arrays.asList(T, T)); + Genotype noCall = GenotypeBuilder.create("nocall", Arrays.asList(Allele.NO_CALL)); + Genotype mixed = GenotypeBuilder.create("mixed", Arrays.asList(Aref, Allele.NO_CALL)); + Genotype homRef = GenotypeBuilder.create("homRef", Arrays.asList(Aref, Aref)); + Genotype het = GenotypeBuilder.create("het", Arrays.asList(Aref, T)); + Genotype homVar = GenotypeBuilder.create("homVar", Arrays.asList(T, T)); List allGenotypes = Arrays.asList(noCall, mixed, homRef, het, homVar); final int nCycles = allGenotypes.size() * 10; @@ -870,7 +949,7 @@ public class VariantContextUnitTest extends BaseTest { nSamples++; Genotype g = allGenotypes.get(j % allGenotypes.size()); final String name = String.format("%s_%d%d", g.getSampleName(), i, j); - gc.add(new Genotype(name, g.getAlleles())); + gc.add(GenotypeBuilder.create(name, g.getAlleles())); switch ( g.getType() ) { case NO_CALL: nNoCall++; nNoCallAlleles++; break; case HOM_REF: nA += 2; nHomRef++; break; diff --git a/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextUtilsUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextUtilsUnitTest.java index 107241beb..b09a10d07 100644 --- a/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextUtilsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextUtilsUnitTest.java @@ -64,16 +64,16 @@ public class VariantContextUtilsUnitTest extends BaseTest { } private Genotype makeG(String sample, Allele a1, Allele a2) { - return new Genotype(sample, Arrays.asList(a1, a2)); + return GenotypeBuilder.create(sample, Arrays.asList(a1, a2)); } private Genotype makeG(String sample, Allele a1, Allele a2, double log10pError, double... pls) { - return new Genotype(sample, Arrays.asList(a1, a2), log10pError, pls); + return new GenotypeBuilder(sample, Arrays.asList(a1, a2)).log10PError(log10pError).PL(pls).make(); } private Genotype makeG(String sample, Allele a1, Allele a2, double log10pError) { - return new Genotype(sample, Arrays.asList(a1, a2), log10pError); + return new GenotypeBuilder(sample, Arrays.asList(a1, a2)).log10PError(log10pError).make(); } private VariantContext makeVC(String source, List alleles) { @@ -523,8 +523,8 @@ public class VariantContextUtilsUnitTest extends BaseTest { for (Genotype value : actual) { Genotype expectedValue = expected.get(value.getSampleName()); - Assert.assertEquals(value.alleles, expectedValue.alleles, "Alleles in Genotype aren't equal"); - Assert.assertEquals(value.getLog10PError(), expectedValue.getLog10PError(), "GQ values aren't equal"); + Assert.assertEquals(value.getAlleles(), expectedValue.getAlleles(), "Alleles in Genotype aren't equal"); + Assert.assertEquals(value.getGQ(), expectedValue.getGQ(), "GQ values aren't equal"); Assert.assertEquals(value.hasLikelihoods(), expectedValue.hasLikelihoods(), "Either both have likelihoods or both not"); if ( value.hasLikelihoods() ) Assert.assertEquals(value.getLikelihoods().getAsVector(), expectedValue.getLikelihoods().getAsVector(), "Genotype likelihoods aren't equal"); diff --git a/public/java/test/org/broadinstitute/sting/utils/genotype/vcf/VCFWriterUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/variantcontext/writer/VCFWriterUnitTest.java similarity index 53% rename from public/java/test/org/broadinstitute/sting/utils/genotype/vcf/VCFWriterUnitTest.java rename to public/java/test/org/broadinstitute/sting/utils/variantcontext/writer/VCFWriterUnitTest.java index 96a33b738..a7fff4559 100644 --- a/public/java/test/org/broadinstitute/sting/utils/genotype/vcf/VCFWriterUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/variantcontext/writer/VCFWriterUnitTest.java @@ -1,28 +1,54 @@ -package org.broadinstitute.sting.utils.genotype.vcf; +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ +package org.broadinstitute.sting.utils.variantcontext.writer; + +import net.sf.picard.reference.IndexedFastaSequenceFile; +import org.broad.tribble.AbstractFeatureReader; +import org.broad.tribble.FeatureReader; import org.broad.tribble.Tribble; -import org.broad.tribble.readers.AsciiLineReader; -import org.broadinstitute.sting.utils.variantcontext.*; -import org.broadinstitute.sting.utils.codecs.vcf.*; -import org.broadinstitute.sting.utils.exceptions.UserException; -import org.testng.Assert; import org.broadinstitute.sting.BaseTest; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderVersion; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; - -import org.testng.annotations.Test; +import org.broadinstitute.sting.utils.variantcontext.*; +import org.testng.Assert; import org.testng.annotations.BeforeClass; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; import java.io.File; -import java.io.FileInputStream; import java.io.FileNotFoundException; import java.io.IOException; import java.util.*; -import net.sf.picard.reference.IndexedFastaSequenceFile; - /** * @author aaron @@ -54,21 +80,16 @@ public class VCFWriterUnitTest extends BaseTest { @Test public void testBasicWriteAndRead() { VCFHeader header = createFakeHeader(metaData,additionalColumns); - VCFWriter writer = new StandardVCFWriter(fakeVCFFile, seq.getSequenceDictionary()); + final EnumSet options = EnumSet.of(Options.ALLOW_MISSING_FIELDS_IN_HEADER); + VariantContextWriter writer = VariantContextWriterFactory.create(fakeVCFFile, seq.getSequenceDictionary(), options); writer.writeHeader(header); writer.add(createVC(header)); writer.add(createVC(header)); writer.close(); - VCFCodec reader = new VCFCodec(); - AsciiLineReader lineReader; + VCFCodec codec = new VCFCodec(); VCFHeader headerFromFile = null; - try { - lineReader = new AsciiLineReader(new FileInputStream(fakeVCFFile)); - headerFromFile = (VCFHeader)reader.readHeader(lineReader); - } - catch (FileNotFoundException e ) { - throw new ReviewedStingException(e.getMessage()); - } + FeatureReader reader = AbstractFeatureReader.getFeatureReader(fakeVCFFile.getAbsolutePath(), codec, false); + headerFromFile = (VCFHeader)reader.getHeader(); int counter = 0; @@ -76,12 +97,9 @@ public class VCFWriterUnitTest extends BaseTest { validateHeader(headerFromFile); try { - while(true) { - String line = lineReader.readLine(); - if (line == null) - break; - - VariantContext vc = (VariantContext)reader.decode(line); + Iterator it = reader.iterator(); + while(it.hasNext()) { + VariantContext vc = it.next(); counter++; } Assert.assertEquals(counter, 2); @@ -126,12 +144,8 @@ public class VCFWriterUnitTest extends BaseTest { attributes.put("DP","50"); for (String name : header.getGenotypeSamples()) { - Map gtattributes = new HashMap(); - gtattributes.put("BB","1"); - Genotype gt = new Genotype(name,alleles.subList(1,2),0,null,gtattributes,true); - + Genotype gt = new GenotypeBuilder(name,alleles.subList(1,2)).GQ(0).attribute("BB", "1").phased(true).make(); genotypes.add(gt); - } return new VariantContextBuilder("RANDOM", loc.getContig(), loc.getStart(), loc.getStop(), alleles) .genotypes(genotypes).attributes(attributes).referenceBaseForIndel((byte)'A').make(); @@ -149,7 +163,7 @@ public class VCFWriterUnitTest extends BaseTest { Assert.assertEquals(VCFHeader.HEADER_FIELDS.values()[index], field); index++; } - Assert.assertEquals(header.getMetaData().size(), metaData.size()); + Assert.assertEquals(header.getMetaDataInSortedOrder().size(), metaData.size()); index = 0; for (String key : header.getGenotypeSamples()) { Assert.assertTrue(additionalColumns.contains(key)); @@ -157,4 +171,38 @@ public class VCFWriterUnitTest extends BaseTest { } Assert.assertEquals(index, additionalColumns.size()); } + + @DataProvider(name = "VCFWriterDoubleFormatTestData") + public Object[][] makeVCFWriterDoubleFormatTestData() { + List tests = new ArrayList(); + tests.add(new Object[]{1.0, "1.00"}); + tests.add(new Object[]{10.1, "10.10"}); + tests.add(new Object[]{10.01, "10.01"}); + tests.add(new Object[]{10.012, "10.01"}); + tests.add(new Object[]{10.015, "10.02"}); + tests.add(new Object[]{0.0, "0.00"}); + tests.add(new Object[]{0.5, "0.500"}); + tests.add(new Object[]{0.55, "0.550"}); + tests.add(new Object[]{0.555, "0.555"}); + tests.add(new Object[]{0.5555, "0.556"}); + tests.add(new Object[]{0.1, "0.100"}); + tests.add(new Object[]{0.050, "0.050"}); + tests.add(new Object[]{0.010, "0.010"}); + tests.add(new Object[]{0.012, "0.012"}); + tests.add(new Object[]{0.0012, "1.200e-03"}); + tests.add(new Object[]{1.2e-4, "1.200e-04"}); + tests.add(new Object[]{1.21e-4, "1.210e-04"}); + tests.add(new Object[]{1.212e-5, "1.212e-05"}); + tests.add(new Object[]{1.2123e-6, "1.212e-06"}); + tests.add(new Object[]{Double.POSITIVE_INFINITY, "Infinity"}); + tests.add(new Object[]{Double.NEGATIVE_INFINITY, "-Infinity"}); + tests.add(new Object[]{Double.NaN, "NaN"}); + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "VCFWriterDoubleFormatTestData") + public void testVCFWriterDoubleFormatTestData(final double d, final String expected) { + Assert.assertEquals(VCFWriter.formatVCFDouble(d), expected, "Failed to pretty print double in VCFWriter"); + } } + diff --git a/public/java/test/org/broadinstitute/sting/utils/variantcontext/writer/VariantContextWritersUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/variantcontext/writer/VariantContextWritersUnitTest.java new file mode 100644 index 000000000..1b791bf6c --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/utils/variantcontext/writer/VariantContextWritersUnitTest.java @@ -0,0 +1,139 @@ +/* + * Copyright (c) 2012, The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR + * OTHER DEALINGS IN THE SOFTWARE. + */ + +// our package +package org.broadinstitute.sting.utils.variantcontext.writer; + + +// the imports for unit testing. + + +import net.sf.picard.reference.IndexedFastaSequenceFile; +import net.sf.samtools.SAMSequenceDictionary; +import org.broad.tribble.FeatureCodec; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.codecs.bcf2.BCF2Codec; +import org.broadinstitute.sting.utils.codecs.vcf.VCFCodec; +import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; +import org.broadinstitute.sting.utils.variantcontext.VariantContext; +import org.broadinstitute.sting.utils.variantcontext.VariantContextTestProvider; +import org.testng.annotations.BeforeSuite; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.IOException; +import java.util.ArrayList; +import java.util.EnumSet; +import java.util.List; + + +public class VariantContextWritersUnitTest extends BaseTest { + private SAMSequenceDictionary dictionary; + + @BeforeSuite + public void before() throws IOException { + final File source = new File(b37KGReference); + //final File source = new File("/Users/depristo/Desktop/broadLocal/localData/human_g1k_v37.fasta"); + IndexedFastaSequenceFile seq = new CachingIndexedFastaSequenceFile(source); + //IndexedFastaSequenceFile seq = new CachingIndexedFastaSequenceFile(new File(b37KGReference)); + dictionary = seq.getSequenceDictionary(); + VariantContextTestProvider.initializeTests(); + } + + @DataProvider(name = "VariantContextTest_SingleContexts") + public Object[][] SiteVCsTest() { + List tests = new ArrayList(); + for ( VariantContextTestProvider.VariantContextTestData testData : VariantContextTestProvider.generateSiteTests() ) + tests.add(new Object[]{testData}); + return tests.toArray(new Object[][]{}); + } + + // -------------------------------------------------------------------------------- + // + // Test BCF2 reader / writer + // + // -------------------------------------------------------------------------------- + + @Test(dataProvider = "VariantContextTest_SingleContexts") + public void testBCF2WriterReader(final VariantContextTestProvider.VariantContextTestData testData) throws IOException { + VariantContextTestProvider.testReaderWriter(new BCFIOTester(), testData); + } + + private class BCFIOTester extends VariantContextTestProvider.VariantContextIOTest { + @Override + public String getExtension() { + return ".bcf"; + } + + @Override + public FeatureCodec makeCodec() { + return new BCF2Codec(); + } + + @Override + public VariantContextWriter makeWriter(final File file, final EnumSet baseOptions) { + return VariantContextWriterFactory.create(file, dictionary, baseOptions); + } + } + + // -------------------------------------------------------------------------------- + // + // Test VCF reader / writer + // + // -------------------------------------------------------------------------------- + + @Test(enabled = true, dataProvider = "VariantContextTest_SingleContexts") + public void testVCF4WriterReader(final VariantContextTestProvider.VariantContextTestData testData) throws IOException { + VariantContextTestProvider.testReaderWriter(new VCFIOTester(), testData); + } + + private class VCFIOTester extends VariantContextTestProvider.VariantContextIOTest { + @Override + public String getExtension() { + return ".vcf"; + } + + @Override + public List postprocess(final VCFHeader header, final List vcsAfterIO) { + final List fullyDecoded = new ArrayList(vcsAfterIO.size()); + + for ( final VariantContext withStrings : vcsAfterIO ) + fullyDecoded.add(withStrings.fullyDecode(header, false)); + + return fullyDecoded; + } + + @Override + public FeatureCodec makeCodec() { + return new VCFCodec(); + } + + @Override + public VariantContextWriter makeWriter(final File file, final EnumSet baseOptions) { + return VariantContextWriterFactory.create(file, dictionary, baseOptions); + } + } +} \ No newline at end of file diff --git a/public/packages/AnalyzeCovariates.xml b/public/packages/AnalyzeCovariates.xml deleted file mode 100644 index 27a72eabd..000000000 --- a/public/packages/AnalyzeCovariates.xml +++ /dev/null @@ -1,14 +0,0 @@ - - - - - - - - - - - - - - diff --git a/public/packages/GATK-Picard.xml b/public/packages/GATK-Picard.xml deleted file mode 100644 index 29057d398..000000000 --- a/public/packages/GATK-Picard.xml +++ /dev/null @@ -1,51 +0,0 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - diff --git a/public/packages/GATKEngine.xml b/public/packages/GATKEngine.xml index 68459f6d2..2de0273f3 100644 --- a/public/packages/GATKEngine.xml +++ b/public/packages/GATKEngine.xml @@ -47,5 +47,12 @@ + + + + + + + diff --git a/public/packages/GenomeAnalysisTK.xml b/public/packages/GenomeAnalysisTK.xml index dc094e317..e95c992b6 100644 --- a/public/packages/GenomeAnalysisTK.xml +++ b/public/packages/GenomeAnalysisTK.xml @@ -1,4 +1,29 @@ + + + @@ -8,20 +33,8 @@ - - - - - - - - - - - - - + diff --git a/public/packages/GenomeAnalysisTKLite.xml b/public/packages/GenomeAnalysisTKLite.xml new file mode 100644 index 000000000..b2f73434c --- /dev/null +++ b/public/packages/GenomeAnalysisTKLite.xml @@ -0,0 +1,39 @@ + + + + + + + + + + + + + + + + + diff --git a/public/packages/Queue.xml b/public/packages/Queue.xml index 86902ae99..621a549d5 100644 --- a/public/packages/Queue.xml +++ b/public/packages/Queue.xml @@ -23,60 +23,19 @@ ~ OTHER DEALINGS IN THE SOFTWARE. --> + - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - + - - + diff --git a/public/packages/QueueEngine.xml b/public/packages/QueueEngine.xml new file mode 100644 index 000000000..af3e20219 --- /dev/null +++ b/public/packages/QueueEngine.xml @@ -0,0 +1,78 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/public/packages/QueueLite.xml b/public/packages/QueueLite.xml new file mode 100644 index 000000000..0ead68fb0 --- /dev/null +++ b/public/packages/QueueLite.xml @@ -0,0 +1,40 @@ + + + + + + + + + + + + + + + + + + diff --git a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/DataProcessingPipeline.scala b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/DataProcessingPipeline.scala index 677d973f5..56e2ddebb 100755 --- a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/DataProcessingPipeline.scala +++ b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/DataProcessingPipeline.scala @@ -258,8 +258,8 @@ class DataProcessingPipeline extends QScript { // Accessory files val targetIntervals = if (cleaningModel == ConsensusDeterminationModel.KNOWNS_ONLY) {globalIntervals} else {swapExt(bam, ".bam", ".intervals")} val metricsFile = swapExt(bam, ".bam", ".metrics") - val preRecalFile = swapExt(bam, ".bam", ".pre_recal.csv") - val postRecalFile = swapExt(bam, ".bam", ".post_recal.csv") + val preRecalFile = swapExt(bam, ".bam", ".pre_recal.table") + val postRecalFile = swapExt(bam, ".bam", ".post_recal.table") val preOutPath = swapExt(bam, ".bam", ".pre") val postOutPath = swapExt(bam, ".bam", ".post") val preValidateLog = swapExt(bam, ".bam", ".pre.validation") @@ -281,9 +281,7 @@ class DataProcessingPipeline extends QScript { dedup(cleanedBam, dedupedBam, metricsFile), cov(dedupedBam, preRecalFile), recal(dedupedBam, preRecalFile, recalBam), - cov(recalBam, postRecalFile), - analyzeCovariates(preRecalFile, preOutPath), - analyzeCovariates(postRecalFile, postOutPath)) + cov(recalBam, postRecalFile)) cohortList :+= recalBam @@ -345,11 +343,11 @@ class DataProcessingPipeline extends QScript { this.jobName = queueLogDir + outBam + ".clean" } - case class cov (inBam: File, outRecalFile: File) extends CountCovariates with CommandLineGATKArgs { + case class cov (inBam: File, outRecalFile: File) extends BaseRecalibrator with CommandLineGATKArgs { this.knownSites ++= qscript.dbSNP - this.covariate ++= Seq("ReadGroupCovariate", "QualityScoreCovariate", "CycleCovariate", "DinucCovariate") + this.covariate ++= Seq("ReadGroupCovariate", "QualityScoreCovariate", "CycleCovariate", "ContextCovariate") this.input_file :+= inBam - this.recal_file = outRecalFile + this.out = outRecalFile if (!defaultPlatform.isEmpty) this.default_platform = defaultPlatform if (!qscript.intervalString.isEmpty) this.intervalsString ++= Seq(qscript.intervalString) else if (qscript.intervals != null) this.intervals :+= qscript.intervals @@ -358,14 +356,14 @@ class DataProcessingPipeline extends QScript { this.jobName = queueLogDir + outRecalFile + ".covariates" } - case class recal (inBam: File, inRecalFile: File, outBam: File) extends TableRecalibration with CommandLineGATKArgs { + case class recal (inBam: File, inRecalFile: File, outBam: File) extends PrintReads with CommandLineGATKArgs { this.input_file :+= inBam - this.recal_file = inRecalFile + this.BQSR = inRecalFile + this.disable_indel_quals = true this.baq = CalculationMode.CALCULATE_AS_NECESSARY this.out = outBam if (!qscript.intervalString.isEmpty) this.intervalsString ++= Seq(qscript.intervalString) else if (qscript.intervals != null) this.intervals :+= qscript.intervals - this.no_pg_tag = qscript.testMode this.scatterCount = nContigs this.isIntermediate = false this.analysisName = queueLogDir + outBam + ".recalibration" @@ -379,13 +377,6 @@ class DataProcessingPipeline extends QScript { ****************************************************************************/ - case class analyzeCovariates (inRecalFile: File, outPath: File) extends AnalyzeCovariates { - this.recal_file = inRecalFile - this.output_dir = outPath.toString - this.analysisName = queueLogDir + inRecalFile + ".analyze_covariates" - this.jobName = queueLogDir + inRecalFile + ".analyze_covariates" - } - case class dedup (inBam: File, outBam: File, metricsFile: File) extends MarkDuplicates with ExternalCommonArgs { this.input :+= inBam this.output = outBam diff --git a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/PacbioProcessingPipeline.scala b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/PacbioProcessingPipeline.scala index c64eef7f7..b7246ca8f 100755 --- a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/PacbioProcessingPipeline.scala +++ b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/PacbioProcessingPipeline.scala @@ -80,8 +80,8 @@ class PacbioProcessingPipeline extends QScript { // BAM Steps val mqBAM: File = swapExt(bamBase, ".bam", ".mq.bam") - val recalFile1: File = swapExt(bamBase, ".bam", ".recal1.csv") - val recalFile2: File = swapExt(bamBase, ".bam", ".recal2.csv") + val recalFile1: File = swapExt(bamBase, ".bam", ".recal1.table") + val recalFile2: File = swapExt(bamBase, ".bam", ".recal2.table") val recalBam: File = swapExt(bamBase, ".bam", ".recal.bam") val path1: String = recalBam + ".before" val path2: String = recalBam + ".after" @@ -102,9 +102,7 @@ class PacbioProcessingPipeline extends QScript { add(cov(bam, recalFile1, resetQuals), recal(bam, recalFile1, recalBam), - cov(recalBam, recalFile2, false), - analyzeCovariates(recalFile1, path1), - analyzeCovariates(recalFile2, path2)) + cov(recalBam, recalFile2, false)) } } @@ -130,6 +128,7 @@ class PacbioProcessingPipeline extends QScript { case class sortSam (inSam: File, outBam: File) extends SortSam with ExternalCommonArgs { this.input = List(inSam) this.output = outBam + this.memoryLimit = 8 this.sortOrder = SortOrder.coordinate this.analysisName = queueLogDir + outBam + ".sortSam" this.jobName = queueLogDir + outBam + ".sortSam" @@ -161,34 +160,29 @@ class PacbioProcessingPipeline extends QScript { this.jobName = queueLogDir + outBam + ".rg" } - case class cov (inBam: File, outRecalFile: File, resetQuals: Boolean) extends CountCovariates with CommandLineGATKArgs { + case class cov (inBam: File, outRecalFile: File, resetQuals: Boolean) extends BaseRecalibrator with CommandLineGATKArgs { if (resetQuals) this.DBQ = dbq this.knownSites :+= dbSNP - this.covariate ++= List("ReadGroupCovariate", "QualityScoreCovariate", "CycleCovariate", "DinucCovariate") + this.covariate ++= List("ReadGroupCovariate", "QualityScoreCovariate", "CycleCovariate", "ContextCovariate") this.input_file :+= inBam - this.recal_file = outRecalFile + this.out = outRecalFile this.analysisName = queueLogDir + outRecalFile + ".covariates" this.jobName = queueLogDir + outRecalFile + ".covariates" this.scatterCount = threads + this.read_filter :+= "BadCigar" } - case class recal (inBam: File, inRecalFile: File, outBam: File) extends TableRecalibration with CommandLineGATKArgs { + case class recal (inBam: File, inRecalFile: File, outBam: File) extends PrintReads with CommandLineGATKArgs { this.DBQ = dbq this.input_file :+= inBam - this.recal_file = inRecalFile + this.BQSR = inRecalFile this.out = outBam - this.no_pg_tag = testMode + this.disable_indel_quals = true this.isIntermediate = false this.analysisName = queueLogDir + outBam + ".recalibration" this.jobName = queueLogDir + outBam + ".recalibration" + this.read_filter :+= "BadCigar" this.scatterCount = threads } - - case class analyzeCovariates (inRecalFile: File, outPath: String) extends AnalyzeCovariates { - this.recal_file = inRecalFile - this.output_dir = outPath - this.analysisName = queueLogDir + inRecalFile + ".analyze_covariates" - this.jobName = queueLogDir + inRecalFile + ".analyze_covariates" - } } diff --git a/public/scala/src/org/broadinstitute/sting/queue/QCommandLine.scala b/public/scala/src/org/broadinstitute/sting/queue/QCommandLine.scala index 7a22e700b..041e84a8c 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/QCommandLine.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/QCommandLine.scala @@ -205,8 +205,7 @@ class QCommandLine extends CommandLineProgram with Logging { private def createQueueHeader() : Seq[String] = { Seq(String.format("Queue v%s, Compiled %s", getQueueVersion, getBuildTimestamp), "Copyright (c) 2012 The Broad Institute", - "Please view our documentation at http://www.broadinstitute.org/gsa/wiki", - "For support, please view our support site at http://getsatisfaction.com/gsa") + "Fro support and documentation go to http://www.broadinstitute.org/gatk") } private def getQueueVersion : String = { diff --git a/public/scala/src/org/broadinstitute/sting/queue/engine/JobRunInfo.scala b/public/scala/src/org/broadinstitute/sting/queue/engine/JobRunInfo.scala index 2caa4d2aa..078331602 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/engine/JobRunInfo.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/engine/JobRunInfo.scala @@ -24,7 +24,6 @@ package org.broadinstitute.sting.queue.engine -import java.util.Date import java.text.SimpleDateFormat /** @@ -36,18 +35,21 @@ class JobRunInfo { val formatter = new SimpleDateFormat("yy-MM-dd H:mm:ss:SSS"); /** The start time with millisecond resolution of this job */ - var startTime: Date = _ + var startTime: java.util.Date = _ /** The done time with millisecond resolution of this job */ - var doneTime: Date = _ + var doneTime: java.util.Date = _ var exechosts: String = "localhost" - def getStartTime = startTime - def getDoneTime = doneTime - def getFormattedStartTime = formatTime(getStartTime) - def getFormattedDoneTime = formatTime(getDoneTime) + def getStartTime: String = getTime(startTime) + def getDoneTime: String = getTime(doneTime) + def getFormattedStartTime = formatTime(startTime) + def getFormattedDoneTime = formatTime(doneTime) + + /** Helper function that returns the time of the date */ + private def getTime(d: java.util.Date): String = if ( d != null ) d.getTime.toString else "null" /** Helper function that pretty prints the date */ - private def formatTime(d: Date) = if ( d != null ) formatter.format(d) else "null" + private def formatTime(d: java.util.Date): String = if ( d != null ) formatter.format(d) else "null" def getExecHosts = exechosts @@ -55,14 +57,14 @@ class JobRunInfo { * Was any information set for this jobInfo? JobInfo can be unset because * the job never ran or because it already completed. */ - def isFilledIn = startTime != null + def isFilledIn = startTime != null && doneTime != null /** * How long did the job run (in wall time)? Returns -1 if this jobInfo isn't filled in */ def getRuntimeInMs: Long = { if ( isFilledIn ) - getDoneTime.getTime - getStartTime.getTime + doneTime.getTime - startTime.getTime else -1 } diff --git a/public/scala/src/org/broadinstitute/sting/queue/engine/gridengine/GridEngineJobRunner.scala b/public/scala/src/org/broadinstitute/sting/queue/engine/gridengine/GridEngineJobRunner.scala index 239f83482..76cefe2a5 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/engine/gridengine/GridEngineJobRunner.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/engine/gridengine/GridEngineJobRunner.scala @@ -35,7 +35,7 @@ import org.ggf.drmaa.Session class GridEngineJobRunner(session: Session, function: CommandLineFunction) extends DrmaaJobRunner(session, function) with Logging { // Grid Engine disallows certain characters from being in job names. // This replaces all illegal characters with underscores - protected override val jobNameFilter = """[\n\t\r/:@\\*?]""" + protected override val jobNameFilter = """[\n\t\r/:,@\\*?]""" protected override val minRunnerPriority = -1023 protected override val maxRunnerPriority = 0 diff --git a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/ContigScatterFunction.scala b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/ContigScatterFunction.scala index 2609c3607..97669030a 100755 --- a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/ContigScatterFunction.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/ContigScatterFunction.scala @@ -38,11 +38,11 @@ class ContigScatterFunction extends GATKScatterFunction with InProcessFunction { override def scatterCount = if (intervalFilesExist) super.scatterCount min this.maxIntervals else super.scatterCount protected override def maxIntervals = { - GATKScatterFunction.getGATKIntervals(this.referenceSequence, this.intervals).contigs.size + GATKScatterFunction.getGATKIntervals(this.originalGATK).contigs.size } def run() { - val gi = GATKScatterFunction.getGATKIntervals(this.referenceSequence, this.intervals) + val gi = GATKScatterFunction.getGATKIntervals(this.originalGATK) IntervalUtils.scatterContigIntervals(gi.samFileHeader, gi.locs, this.scatterOutputFiles) } } diff --git a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/GATKIntervals.scala b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/GATKIntervals.scala index 2f604a809..e619c0a02 100755 --- a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/GATKIntervals.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/GATKIntervals.scala @@ -26,13 +26,23 @@ package org.broadinstitute.sting.queue.extensions.gatk import java.io.File import collection.JavaConversions._ -import org.broadinstitute.sting.utils.interval.{IntervalMergingRule, IntervalUtils} +import org.broadinstitute.sting.utils.interval.{IntervalSetRule, IntervalMergingRule, IntervalUtils} import org.broadinstitute.sting.gatk.datasources.reference.ReferenceDataSource import net.sf.samtools.SAMFileHeader -import java.util.Collections -import org.broadinstitute.sting.utils.{GenomeLoc, GenomeLocSortedSet, GenomeLocParser} +import org.broadinstitute.sting.utils.GenomeLoc +import org.broadinstitute.sting.commandline._ +import org.broad.tribble.Feature + +case class GATKIntervals(reference: File, intervals: Seq[File], intervalsString: Seq[String], + intervalSetRule: IntervalSetRule, intervalMergingRule: IntervalMergingRule, intervalPadding: Option[Int], + excludeIntervals: Seq[File], excludeIntervalsString: Seq[String]) { + + def this(gatk: CommandLineGATK) = this( + gatk.reference_sequence, + gatk.intervals, gatk.intervalsString, + gatk.interval_set_rule, gatk.interval_merging, gatk.interval_padding, + gatk.excludeIntervals, gatk.excludeIntervalsString) -case class GATKIntervals(reference: File, intervals: Seq[String]) { private lazy val referenceDataSource = new ReferenceDataSource(reference) lazy val samFileHeader = { @@ -42,16 +52,46 @@ case class GATKIntervals(reference: File, intervals: Seq[String]) { } lazy val locs: java.util.List[GenomeLoc] = { - val parser = new GenomeLocParser(referenceDataSource.getReference) - val parsedLocs = - if (intervals.isEmpty) - GenomeLocSortedSet.createSetFromSequenceDictionary(samFileHeader.getSequenceDictionary).toList - else - IntervalUtils.parseIntervalArguments(parser, intervals) - Collections.sort(parsedLocs) - val mergedLocs = IntervalUtils.mergeIntervalLocations(parsedLocs, IntervalMergingRule.OVERLAPPING_ONLY) - Collections.unmodifiableList(mergedLocs) + val includeIntervalBindings = this.intervals.map(GATKIntervals.createBinding(_, "intervals")) ++ + this.intervalsString.map(GATKIntervals.createBinding(_, "intervalsString")) + val excludeIntervalBindings = this.excludeIntervals.map(GATKIntervals.createBinding(_, "excludeIntervals")) ++ + this.excludeIntervalsString.map(GATKIntervals.createBinding(_, "excludeIntervalsString")) + + IntervalUtils.parseIntervalBindings( + referenceDataSource, + includeIntervalBindings, + intervalSetRule, intervalMergingRule, intervalPadding.getOrElse(0), + excludeIntervalBindings).toList } lazy val contigs = locs.map(_.getContig).distinct.toSeq } + +object GATKIntervals { + def copyIntervalArguments(src: CommandLineGATK, dst: CommandLineGATK) { + dst.reference_sequence = src.reference_sequence + dst.intervals = src.intervals + dst.intervalsString = src.intervalsString + dst.interval_set_rule = src.interval_set_rule + dst.interval_merging = src.interval_merging + dst.interval_padding = src.interval_padding + dst.excludeIntervals = src.excludeIntervals + dst.excludeIntervalsString = src.excludeIntervalsString + } + + private def createBinding(interval: File, argumentName: String): IntervalBinding[Feature] = { + val tags = interval match { + case taggedFile: TaggedFile => ParsingMethod.parseTags(argumentName, taggedFile.tag) + case file: File => new Tags + } + createBinding(interval.getAbsolutePath, argumentName, tags) + } + + private def createBinding(interval: String, argumentName: String): IntervalBinding[Feature] = { + createBinding(interval, argumentName, new Tags) + } + + private def createBinding(interval: String, argumentName: String, tags: Tags): IntervalBinding[Feature] = { + ArgumentTypeDescriptor.parseBinding(interval, classOf[Feature], classOf[IntervalBinding[Feature]], argumentName, tags, argumentName).asInstanceOf[IntervalBinding[Feature]] + } +} diff --git a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/GATKScatterFunction.scala b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/GATKScatterFunction.scala index 28c3f41e9..9e79e8f61 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/GATKScatterFunction.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/GATKScatterFunction.scala @@ -28,14 +28,17 @@ import org.broadinstitute.sting.utils.interval.IntervalUtils import java.io.File import org.broadinstitute.sting.utils.io.IOUtils import org.broadinstitute.sting.queue.function.scattergather.{CloneFunction, ScatterFunction} -import org.broadinstitute.sting.commandline.Output +import org.broadinstitute.sting.commandline._ trait GATKScatterFunction extends ScatterFunction { - /** The runtime field to set for specifying an interval file. */ + /* The runtime field to set for specifying intervals. */ private final val intervalsField = "intervals" - - /** The runtime field to set for specifying an interval string. */ private final val intervalsStringField = "intervalsString" + private final val excludeIntervalsField = "excludeIntervals" + private final val excludeIntervalsStringField = "excludeIntervalsString" + private final val intervalsSetRuleField = "interval_set_rule" + private final val intervalMergingField = "interval_merging" + private final val intervalPaddingField = "interval_padding" @Output(doc="Scatter function outputs") var scatterOutputFiles: Seq[File] = Nil @@ -43,25 +46,14 @@ trait GATKScatterFunction extends ScatterFunction { /** The original GATK function. */ protected var originalGATK: CommandLineGATK = _ - /** The reference sequence for the GATK function. */ - protected var referenceSequence: File = _ - - /** The list of interval files ("/path/to/interval.list") or interval strings ("chr1", "chr2") to parse into smaller parts. */ - protected var intervals: Seq[String] = Nil - /** Whether the last scatter job should also include any unmapped reads. */ protected var includeUnmapped: Boolean = _ override def init() { this.originalGATK = this.originalFunction.asInstanceOf[CommandLineGATK] - this.referenceSequence = this.originalGATK.reference_sequence - if (this.originalGATK.intervals.isEmpty && (this.originalGATK.intervalsString == null || this.originalGATK.intervalsString.isEmpty)) { - this.intervals ++= GATKScatterFunction.getGATKIntervals(this.referenceSequence, Seq.empty[String]).contigs - } else { - this.intervals ++= this.originalGATK.intervals.map(_.toString) - this.intervals ++= this.originalGATK.intervalsString.filterNot(interval => IntervalUtils.isUnmapped(interval)) + // If intervals have been specified check if unmapped is included + if (this.originalGATK.intervals.size + this.originalGATK.intervalsString.size > 0) this.includeUnmapped = this.originalGATK.intervalsString.exists(interval => IntervalUtils.isUnmapped(interval)) - } } override def isScatterGatherable = { @@ -74,6 +66,12 @@ trait GATKScatterFunction extends ScatterFunction { cloneFunction.setFieldValue(this.intervalsStringField, Seq("unmapped")) else cloneFunction.setFieldValue(this.intervalsStringField, Seq.empty[String]) + + cloneFunction.setFieldValue(this.intervalsSetRuleField, null) + cloneFunction.setFieldValue(this.intervalMergingField, null) + cloneFunction.setFieldValue(this.intervalPaddingField, None) + cloneFunction.setFieldValue(this.excludeIntervalsField, Seq.empty[File]) + cloneFunction.setFieldValue(this.excludeIntervalsStringField, Seq.empty[String]) } override def bindCloneInputs(cloneFunction: CloneFunction, index: Int) { @@ -85,29 +83,28 @@ trait GATKScatterFunction extends ScatterFunction { } /** - * Returns true if all interval files exist. + * @return true if all interval files exist. */ protected def intervalFilesExist = { - !this.intervals.exists(interval => IntervalUtils.isIntervalFile(interval, false) && !new File(interval).exists) + !(this.originalGATK.intervals ++ this.originalGATK.excludeIntervals).exists(interval => !interval.exists()) } /** - * Returns the maximum number of intervals or this.scatterCount if the maximum can't be determined ahead of time. * @return the maximum number of intervals or this.scatterCount if the maximum can't be determined ahead of time. */ protected def maxIntervals: Int } object GATKScatterFunction { - var gatkIntervals = Seq.empty[GATKIntervals] + var gatkIntervalsCache = Seq.empty[GATKIntervals] - def getGATKIntervals(reference: File, intervals: Seq[String]) = { - gatkIntervals.find(gi => gi.reference == reference && gi.intervals == intervals) match { - case Some(gi) => gi + def getGATKIntervals(originalFunction: CommandLineGATK) = { + val gatkIntervals = new GATKIntervals(originalFunction) + gatkIntervalsCache.find(_ == gatkIntervals) match { + case Some(existingGatkIntervals) => existingGatkIntervals case None => - val gi = new GATKIntervals(reference, intervals) - gatkIntervals :+= gi - gi + gatkIntervalsCache :+= gatkIntervals + gatkIntervals } } } diff --git a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/IntervalScatterFunction.scala b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/IntervalScatterFunction.scala index 40a6fc4b4..03b142bca 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/IntervalScatterFunction.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/IntervalScatterFunction.scala @@ -33,12 +33,12 @@ import org.broadinstitute.sting.queue.function.InProcessFunction */ class IntervalScatterFunction extends GATKScatterFunction with InProcessFunction { protected override def maxIntervals = - GATKScatterFunction.getGATKIntervals(this.referenceSequence, this.intervals).locs.size + GATKScatterFunction.getGATKIntervals(this.originalGATK).locs.size override def scatterCount = if (intervalFilesExist) super.scatterCount min this.maxIntervals else super.scatterCount def run() { - val gi = GATKScatterFunction.getGATKIntervals(this.referenceSequence, this.intervals) + val gi = GATKScatterFunction.getGATKIntervals(this.originalGATK) val splits = IntervalUtils.splitFixedIntervals(gi.locs, this.scatterOutputFiles.size) IntervalUtils.scatterFixedIntervals(gi.samFileHeader, splits, this.scatterOutputFiles) } diff --git a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/LocusScatterFunction.scala b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/LocusScatterFunction.scala index 8f52b9b82..150df4e38 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/LocusScatterFunction.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/LocusScatterFunction.scala @@ -31,13 +31,11 @@ import org.broadinstitute.sting.queue.function.InProcessFunction /** * A scatter function that divides down to the locus level. */ -//class LocusScatterFunction extends IntervalScatterFunction { } - class LocusScatterFunction extends GATKScatterFunction with InProcessFunction { protected override def maxIntervals = scatterCount def run() { - val gi = GATKScatterFunction.getGATKIntervals(this.referenceSequence, this.intervals) + val gi = GATKScatterFunction.getGATKIntervals(this.originalGATK) val splits = IntervalUtils.splitLocusIntervals(gi.locs, this.scatterOutputFiles.size) IntervalUtils.scatterFixedIntervals(gi.samFileHeader, splits, this.scatterOutputFiles) } diff --git a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/VcfGatherFunction.scala b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/VcfGatherFunction.scala index 8ac711f25..739e6cc91 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/VcfGatherFunction.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/extensions/gatk/VcfGatherFunction.scala @@ -37,24 +37,24 @@ class VcfGatherFunction extends CombineVariants with GatherFunction { private lazy val originalGATK = this.originalFunction.asInstanceOf[CommandLineGATK] - override def freezeFieldValues { + override def freezeFieldValues() { this.jarFile = this.originalGATK.jarFile - this.reference_sequence = this.originalGATK.reference_sequence - this.intervals = this.originalGATK.intervals - this.intervalsString = this.originalGATK.intervalsString - this.variant = this.gatherParts.zipWithIndex map { case (input, index) => new TaggedFile(input, "input"+index) } this.out = this.originalOutput + GATKIntervals.copyIntervalArguments(this.originalGATK, this) // NO_HEADER and sites_only from VCFWriterArgumentTypeDescriptor // are added by the GATKExtensionsGenerator to the subclass of CommandLineGATK val noHeader = QFunction.findField(originalFunction.getClass, VCFWriterArgumentTypeDescriptor.NO_HEADER_ARG_NAME) - this.NO_HEADER = originalGATK.getFieldValue(noHeader).asInstanceOf[Boolean] + this.no_cmdline_in_header = originalGATK.getFieldValue(noHeader).asInstanceOf[Boolean] val sitesOnly = QFunction.findField(originalFunction.getClass, VCFWriterArgumentTypeDescriptor.SITES_ONLY_ARG_NAME) this.sites_only = originalGATK.getFieldValue(sitesOnly).asInstanceOf[Boolean] - super.freezeFieldValues + // ensure that the gather function receives the same unsafe parameter as the scattered function + this.unsafe = this.originalGATK.unsafe + + super.freezeFieldValues() } } diff --git a/public/scala/src/org/broadinstitute/sting/queue/function/JavaCommandLineFunction.scala b/public/scala/src/org/broadinstitute/sting/queue/function/JavaCommandLineFunction.scala index 534d68069..13448afdd 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/function/JavaCommandLineFunction.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/function/JavaCommandLineFunction.scala @@ -49,6 +49,11 @@ trait JavaCommandLineFunction extends CommandLineFunction { */ var javaMemoryLimit: Option[Double] = None + /** + * Max number of GC threads + */ + var javaGCThreads: Option[Int] = None + override def freezeFieldValues() { super.freezeFieldValues() @@ -73,6 +78,8 @@ trait JavaCommandLineFunction extends CommandLineFunction { } def javaOpts = optional("-Xmx", javaMemoryLimit.map(gb => (gb * 1024).ceil.toInt), "m", spaceSeparated=false) + + conditional(javaGCThreads.isDefined, "-XX:+UseParallelOldGC") + + optional("-XX:ParallelGCThreads=", javaGCThreads, spaceSeparated=false) + required("-Djava.io.tmpdir=", jobTempDir, spaceSeparated=false) def commandLine = required("java") + diff --git a/public/scala/src/org/broadinstitute/sting/queue/util/QJobReport.scala b/public/scala/src/org/broadinstitute/sting/queue/util/QJobReport.scala index e548e5c5e..c69a310b3 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/util/QJobReport.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/util/QJobReport.scala @@ -40,6 +40,7 @@ trait QJobReport extends Logging { self: QFunction => protected var reportGroup: String = null + protected var userReportFeatures: Map[String, String] = Map() protected var reportFeatures: Map[String, String] = Map() protected var reportEnabled: Boolean = true @@ -49,46 +50,49 @@ trait QJobReport extends Logging { def setRunInfo(info: JobRunInfo) { //logger.info("info " + info) - reportFeatures = Map( + val runtimeFeatures = Map( "iteration" -> 1, "analysisName" -> getReportGroup, "jobName" -> QJobReport.workAroundSameJobNames(this), "intermediate" -> self.isIntermediate, "exechosts" -> info.getExecHosts, - "startTime" -> info.getStartTime.getTime, - "doneTime" -> info.getDoneTime.getTime, + "startTime" -> info.getStartTime, + "doneTime" -> info.getDoneTime, "formattedStartTime" -> info.getFormattedStartTime, "formattedDoneTime" -> info.getFormattedDoneTime, - "runtime" -> info.getRuntimeInMs).mapValues((x:Any) => if (x != null) x.toString else "null") ++ reportFeatures + "runtime" -> info.getRuntimeInMs).mapValues((x:Any) => if (x != null) x.toString else "null") + reportFeatures = runtimeFeatures ++ userReportFeatures // note -- by adding reportFeatures second we override iteration // (or any other binding) with the user provided value } /** The report Group is the analysis name transform to only contain valid GATKReportTable characters */ def getReportGroup = self.analysisName.replaceAll(GATKReportTable.INVALID_TABLE_NAME_REGEX, "_") - def getReportFeatures = reportFeatures - def getReportFeatureNames: Seq[String] = getReportFeatures.keys.toSeq + def getReportFeatureNames: Seq[String] = reportFeatures.keys.toSeq def getReportFeature(key: String): String = { - getReportFeatures.get(key) match { + reportFeatures.get(key) match { case Some(x) => x - case None => throw new RuntimeException("Get called with key %s but no value was found".format(key)) + case None => + logger.warn("getReportFeature called with key %s but no value was found for group %s. This can be caused by adding user-defined job features to a job with a generic name used elsewhere in the Queue script. To fix the problem make sure that each group of commands with user-specific features has a unique analysisName".format(key, reportGroup)) + "NA" } } def getReportName: String = getReportFeature("jobName") def configureJobReport(features: Map[String, Any]) { - this.reportFeatures = features.mapValues(_.toString) + this.userReportFeatures = features.mapValues(_.toString) } def addJobReportBinding(key: String, value: Any) { - this.reportFeatures += (key -> value.toString) + this.userReportFeatures += (key -> value.toString) } // copy the QJobReport information -- todo : what's the best way to do this? override def copySettingsTo(function: QFunction) { self.copySettingsTo(function) + function.userReportFeatures = this.userReportFeatures function.reportFeatures = this.reportFeatures } } @@ -139,13 +143,12 @@ object QJobReport { // create a table for each group of logs for ( (group, groupLogs) <- groupLogs(logs) ) { - report.addTable(group, "Job logs for " + group) - val table: GATKReportTable = report.getTable(group) - table.addPrimaryKey("jobName", false) val keys = logKeys(groupLogs) + report.addTable(group, "Job logs for " + group, keys.size) + val table: GATKReportTable = report.getTable(group) // add the columns - keys.foreach(table.addColumn(_, 0)) + keys.foreach(table.addColumn(_)) for (log <- groupLogs) { for ( key <- keys ) table.set(log.getReportName, key, log.getReportFeature(key)) diff --git a/public/scala/src/org/broadinstitute/sting/queue/util/ScalaCompoundArgumentTypeDescriptor.scala b/public/scala/src/org/broadinstitute/sting/queue/util/ScalaCompoundArgumentTypeDescriptor.scala index 6b615e6d9..0d8edc25d 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/util/ScalaCompoundArgumentTypeDescriptor.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/util/ScalaCompoundArgumentTypeDescriptor.scala @@ -70,7 +70,7 @@ class ScalaCompoundArgumentTypeDescriptor extends ArgumentTypeDescriptor { * @return The parsed object. */ def parse(parsingEngine: ParsingEngine, source: ArgumentSource, typeType: Type, argumentMatches: ArgumentMatches) = { - parse(parsingEngine,source, makeRawTypeIfNecessary(typeType), argumentMatches) + parse(parsingEngine,source, ArgumentTypeDescriptor.makeRawTypeIfNecessary(typeType), argumentMatches) } def parse(parsingEngine: ParsingEngine, source: ArgumentSource, classType: Class[_], argumentMatches: ArgumentMatches) = { diff --git a/public/scala/src/org/broadinstitute/sting/queue/util/VCF_BAM_utilities.scala b/public/scala/src/org/broadinstitute/sting/queue/util/VCF_BAM_utilities.scala index f2592e05c..1f18858e1 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/util/VCF_BAM_utilities.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/util/VCF_BAM_utilities.scala @@ -4,14 +4,16 @@ import java.io.File import org.apache.commons.io.FilenameUtils import scala.io.Source._ import net.sf.samtools.SAMFileReader -import org.broad.tribble.source.BasicFeatureSource import org.broadinstitute.sting.utils.codecs.vcf.{VCFHeader, VCFCodec} import scala.collection.JavaConversions._ +import org.broad.tribble.{FeatureCodec, AbstractFeatureReader} +import org.broadinstitute.sting.utils.variantcontext.VariantContext object VCF_BAM_utilities { def getSamplesFromVCF(vcfFile: File): List[String] = { - return BasicFeatureSource.getFeatureSource(vcfFile.getPath(), new VCFCodec()).getHeader().asInstanceOf[VCFHeader].getGenotypeSamples().toList + val codec: FeatureCodec[VariantContext] = new VCFCodec().asInstanceOf[FeatureCodec[VariantContext]] + AbstractFeatureReader.getFeatureReader(vcfFile.getPath, codec).getHeader.asInstanceOf[VCFHeader].getGenotypeSamples.toList } def getSamplesInBAM(bam: File): List[String] = { diff --git a/public/scala/test/org/broadinstitute/sting/queue/extensions/gatk/GATKIntervalsUnitTest.scala b/public/scala/test/org/broadinstitute/sting/queue/extensions/gatk/GATKIntervalsUnitTest.scala index b23350557..2c6016c9b 100644 --- a/public/scala/test/org/broadinstitute/sting/queue/extensions/gatk/GATKIntervalsUnitTest.scala +++ b/public/scala/test/org/broadinstitute/sting/queue/extensions/gatk/GATKIntervalsUnitTest.scala @@ -26,19 +26,21 @@ package org.broadinstitute.sting.queue.extensions.gatk import java.io.File import org.testng.Assert -import org.testng.annotations.Test +import org.testng.annotations.{DataProvider, Test} import org.broadinstitute.sting.BaseTest import org.broadinstitute.sting.gatk.datasources.reference.ReferenceDataSource import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile import org.broadinstitute.sting.utils.{GenomeLocSortedSet, GenomeLocParser} import collection.JavaConversions._ import org.broadinstitute.sting.utils.interval.IntervalUtils +import org.broadinstitute.sting.utils.exceptions.UserException class GATKIntervalsUnitTest { private final lazy val hg18Reference = new File(BaseTest.hg18Reference) private final lazy val hg18GenomeLocParser = new GenomeLocParser(new CachingIndexedFastaSequenceFile(hg18Reference)) private final lazy val hg18ReferenceLocs = GenomeLocSortedSet. createSetFromSequenceDictionary(new ReferenceDataSource(hg18Reference).getReference.getSequenceDictionary).toList + private final lazy val hg19GenomeLocParser = new GenomeLocParser(new CachingIndexedFastaSequenceFile(hg19Reference)) private final lazy val hg19Reference = new File(BaseTest.hg19Reference) @@ -48,14 +50,14 @@ class GATKIntervalsUnitTest { val chr2 = hg18GenomeLocParser.parseGenomeLoc("chr2:2-3") val chr3 = hg18GenomeLocParser.parseGenomeLoc("chr3:3-5") - val gi = new GATKIntervals(hg18Reference, Seq("chr1:1-1", "chr2:2-3", "chr3:3-5")) + val gi = createGATKIntervals(hg18Reference, Seq("chr1:1-1", "chr2:2-3", "chr3:3-5")) Assert.assertEquals(gi.locs.toSeq, Seq(chr1, chr2, chr3)) Assert.assertEquals(gi.contigs, Seq("chr1", "chr2", "chr3")) } @Test(timeOut = 30000L) def testIntervalFile() { - var gi = new GATKIntervals(hg19Reference, Seq(BaseTest.hg19Intervals)) + val gi = createGATKIntervals(hg19Reference, Seq(BaseTest.hg19Intervals)) Assert.assertEquals(gi.locs.size, 189894) // Timeout check is because of bad: // for(Item item: javaConvertedScalaList) @@ -67,28 +69,85 @@ class GATKIntervalsUnitTest { @Test def testEmptyIntervals() { - val gi = new GATKIntervals(hg18Reference, Nil) + val gi = createGATKIntervals(hg18Reference, Nil) Assert.assertEquals(gi.locs, hg18ReferenceLocs) Assert.assertEquals(gi.contigs.size, hg18ReferenceLocs.size) } @Test def testContigCounts() { - Assert.assertEquals(new GATKIntervals(hg18Reference, Nil).contigs, hg18ReferenceLocs.map(_.getContig)) - Assert.assertEquals(new GATKIntervals(hg18Reference, Seq("chr1", "chr2", "chr3")).contigs, Seq("chr1", "chr2", "chr3")) - Assert.assertEquals(new GATKIntervals(hg18Reference, Seq("chr1:1-2", "chr1:4-5", "chr2:1-1", "chr3:2-2")).contigs, Seq("chr1", "chr2", "chr3")) + Assert.assertEquals(createGATKIntervals(hg18Reference, Nil).contigs, hg18ReferenceLocs.map(_.getContig)) + Assert.assertEquals(createGATKIntervals(hg18Reference, Seq("chr1", "chr2", "chr3")).contigs, Seq("chr1", "chr2", "chr3")) + Assert.assertEquals(createGATKIntervals(hg18Reference, Seq("chr1:1-2", "chr1:4-5", "chr2:1-1", "chr3:2-2")).contigs, Seq("chr1", "chr2", "chr3")) } - @Test - def testSortAndMergeIntervals() { - testSortAndMergeIntervals(Seq("chr1:1-10", "chr1:1-10", "chr1:1-10"), Seq("chr1:1-10")) - testSortAndMergeIntervals(Seq("chr1:1-10", "chr1:1-11", "chr1:1-12"), Seq("chr1:1-12")) - testSortAndMergeIntervals(Seq("chr1:1-10", "chr1:11-20", "chr1:21-30"), Seq("chr1:1-10", "chr1:11-20", "chr1:21-30")) - testSortAndMergeIntervals(Seq("chr1:1-10", "chr1:10-20", "chr1:21-30"), Seq("chr1:1-20", "chr1:21-30")) - testSortAndMergeIntervals(Seq("chr1:1-10", "chr1:21-30", "chr1:10-20"), Seq("chr1:1-20", "chr1:21-30")) + @DataProvider(name="sortAndMergeIntervals") + def getSortAndMergeIntervals: Array[Array[AnyRef]] = { + Array( + Array(Seq("chr1:1-10", "chr1:1-10", "chr1:1-10"), Seq("chr1:1-10")), + Array(Seq("chr1:1-10", "chr1:1-11", "chr1:1-12"), Seq("chr1:1-12")), + Array(Seq("chr1:1-10", "chr1:11-20", "chr1:21-30"), Seq("chr1:1-30")), + Array(Seq("chr1:1-10", "chr1:10-20", "chr1:21-30"), Seq("chr1:1-30")), + Array(Seq("chr1:1-9", "chr1:21-30", "chr1:11-20"), Seq("chr1:1-9", "chr1:11-30")) + ).asInstanceOf[Array[Array[AnyRef]]] } - private def testSortAndMergeIntervals(actual: Seq[String], expected: Seq[String]) { - Assert.assertEquals(new GATKIntervals(hg18Reference, actual).locs.toSeq, expected.map(hg18GenomeLocParser.parseGenomeLoc(_))) + @Test(dataProvider="sortAndMergeIntervals") + def testSortAndMergeIntervals(unmerged: Seq[String], expected: Seq[String]) { + Assert.assertEquals(createGATKIntervals(hg18Reference, unmerged).locs.toSeq, expected.map(hg18GenomeLocParser.parseGenomeLoc(_))) + } + + @DataProvider(name="taggedFiles") + def getTaggedFiles: Array[Array[AnyRef]] = { + Array( + Array(hg18Reference, BaseTest.privateTestDir + "small_unmerged_gatk_intervals.list", null, Seq("chr1:1-10")), + Array(hg18Reference, BaseTest.privateTestDir + "small_unmerged_gatk_intervals.list", "", Seq("chr1:1-10")), + Array(hg18Reference, BaseTest.privateTestDir + "small_unmerged_gatk_intervals.list", "myList", Seq("chr1:1-10")), + Array(hg19Reference, BaseTest.privateTestDir + "small.indel.test.vcf", null, Seq("1:897475-897481", "1:10001292")), + Array(hg19Reference, BaseTest.privateTestDir + "small.indel.test.vcf", "", Seq("1:897475-897481", "1:10001292")), + Array(hg19Reference, BaseTest.privateTestDir + "small.indel.test.vcf", "myVcf", Seq("1:897475-897481", "1:10001292")), + Array(hg19Reference, BaseTest.privateTestDir + "small.indel.test.vcf", "VCF", Seq("1:897475-897481", "1:10001292")), + Array(hg19Reference, BaseTest.privateTestDir + "small.indel.test.vcf", "myVcf,VCF", Seq("1:897475-897481", "1:10001292")), + Array(hg19Reference, BaseTest.privateTestDir + "sampleBedFile.bed", null, Seq("20:1-999", "20:1002-2000", "22:1001-6000")), + Array(hg19Reference, BaseTest.privateTestDir + "sampleBedFile.bed", "", Seq("20:1-999", "20:1002-2000", "22:1001-6000")), + Array(hg19Reference, BaseTest.privateTestDir + "sampleBedFile.bed", "myBed", Seq("20:1-999", "20:1002-2000", "22:1001-6000")), + Array(hg19Reference, BaseTest.privateTestDir + "sampleBedFile.bed", "BED", Seq("20:1-999", "20:1002-2000", "22:1001-6000")), + Array(hg19Reference, BaseTest.privateTestDir + "sampleBedFile.bed", "myBed,BED", Seq("20:1-999", "20:1002-2000", "22:1001-6000")) + ) + } + + @Test(dataProvider="taggedFiles") + def testTaggedFiles(reference: File, file: String, tags: String, expected: Seq[String]) { + val gatk = new CommandLineGATK + gatk.reference_sequence = reference + gatk.intervals = Seq(new TaggedFile(file, tags)) + val parser = if (reference == hg18Reference) hg18GenomeLocParser else hg19GenomeLocParser + Assert.assertEquals(new GATKIntervals(gatk).locs.toSeq, expected.map(parser.parseGenomeLoc(_))) + } + + @DataProvider(name="badTaggedFiles") + def getBadTaggedFiles: Array[Array[AnyRef]] = { + Array( + Array(hg18Reference, BaseTest.privateTestDir + "small_unmerged_gatk_intervals.list", "VCF"), + Array(hg18Reference, BaseTest.privateTestDir + "small_unmerged_gatk_intervals.list", "too,many,tags"), + Array(hg19Reference, BaseTest.privateTestDir + "small.indel.test.vcf", "BED"), + Array(hg19Reference, BaseTest.privateTestDir + "small.indel.test.vcf", "VCF,myVCF"), + Array(hg19Reference, BaseTest.privateTestDir + "small.indel.test.vcf", "myVCF,VCF,extra"), + Array(hg19Reference, BaseTest.privateTestDir + "sampleBedFile.bed", "VCF"), + Array(hg19Reference, BaseTest.privateTestDir + "sampleBedFile.bed", "BED,myBed"), + Array(hg19Reference, BaseTest.privateTestDir + "sampleBedFile.bed", "myBed,BED,extra") + ).asInstanceOf[Array[Array[AnyRef]]] + } + + @Test(dataProvider = "badTaggedFiles", expectedExceptions = Array(classOf[UserException])) + def testBadTaggedFiles(reference: File, file: String, tags: String) { + testTaggedFiles(reference, file, tags, Nil) + } + + private def createGATKIntervals(reference: File, intervals: Seq[String]) = { + val gatk = new CommandLineGATK + gatk.reference_sequence = reference + gatk.intervalsString = intervals + new GATKIntervals(gatk) } } diff --git a/public/scala/test/org/broadinstitute/sting/queue/pipeline/DataProcessingPipelineTest.scala b/public/scala/test/org/broadinstitute/sting/queue/pipeline/DataProcessingPipelineTest.scala index cf4adefe6..724f35cf6 100644 --- a/public/scala/test/org/broadinstitute/sting/queue/pipeline/DataProcessingPipelineTest.scala +++ b/public/scala/test/org/broadinstitute/sting/queue/pipeline/DataProcessingPipelineTest.scala @@ -36,12 +36,12 @@ class DataProcessingPipelineTest { spec.name = "DataProcessingPipeline" spec.args = Array( " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/DataProcessingPipeline.scala", - " -R " + BaseTest.testDir + "exampleFASTA.fasta", - " -i " + BaseTest.testDir + "exampleBAM.bam", - " -D " + BaseTest.testDir + "exampleDBSNP.vcf", + " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", + " -i " + BaseTest.publicTestDir + "exampleBAM.bam", + " -D " + BaseTest.publicTestDir + "exampleDBSNP.vcf", " -test ", " -p " + projectName).mkString - spec.fileMD5s += testOut -> "1f85e76de760167a77ed1d9ab4da2936" + spec.fileMD5s += testOut -> "0f0b32e94640a8d548b4c1134ad4c075" PipelineTest.executeTest(spec) } @@ -53,14 +53,14 @@ class DataProcessingPipelineTest { spec.name = "DataProcessingPipeline" spec.args = Array( " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/DataProcessingPipeline.scala", - " -R " + BaseTest.testDir + "exampleFASTA.fasta", - " -i " + BaseTest.testDir + "exampleBAM.bam", - " -D " + BaseTest.testDir + "exampleDBSNP.vcf", + " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", + " -i " + BaseTest.publicTestDir + "exampleBAM.bam", + " -D " + BaseTest.publicTestDir + "exampleDBSNP.vcf", " -test ", " -bwa /home/unix/carneiro/bin/bwa", " -bwape ", " -p " + projectName).mkString - spec.fileMD5s += testOut -> "57416a0abdf9524bc92834d466529708" + spec.fileMD5s += testOut -> "6b4f13d22b45d7d617ee959fdc278ed2" PipelineTest.executeTest(spec) } diff --git a/public/scala/test/org/broadinstitute/sting/queue/pipeline/PacbioProcessingPipelineTest.scala b/public/scala/test/org/broadinstitute/sting/queue/pipeline/PacbioProcessingPipelineTest.scala index 1278b6e16..6e4c5ed3e 100644 --- a/public/scala/test/org/broadinstitute/sting/queue/pipeline/PacbioProcessingPipelineTest.scala +++ b/public/scala/test/org/broadinstitute/sting/queue/pipeline/PacbioProcessingPipelineTest.scala @@ -35,12 +35,12 @@ class PacbioProcessingPipelineTest { spec.name = "pacbioProcessingPipeline" spec.args = Array( " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/PacbioProcessingPipeline.scala", - " -R " + BaseTest.testDir + "exampleFASTA.fasta", - " -i " + BaseTest.testDir + "exampleBAM.bam", + " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", + " -i " + BaseTest.publicTestDir + "exampleBAM.bam", " -blasr ", " -test ", - " -D " + BaseTest.testDir + "exampleDBSNP.vcf").mkString - spec.fileMD5s += testOut -> "cf147e7f56806598371f8d5d6794b852" + " -D " + BaseTest.publicTestDir + "exampleDBSNP.vcf").mkString + spec.fileMD5s += testOut -> "2f2026882a2850bb14a858524158d5a8" PipelineTest.executeTest(spec) } } diff --git a/public/scala/test/org/broadinstitute/sting/queue/pipeline/PipelineTest.scala b/public/scala/test/org/broadinstitute/sting/queue/pipeline/PipelineTest.scala index 9d51b01a0..3fb0201d9 100644 --- a/public/scala/test/org/broadinstitute/sting/queue/pipeline/PipelineTest.scala +++ b/public/scala/test/org/broadinstitute/sting/queue/pipeline/PipelineTest.scala @@ -42,6 +42,7 @@ import org.broadinstitute.sting.queue.engine.CommandLinePluginManager object PipelineTest extends BaseTest with Logging { private val validationReportsDataLocation = "/humgen/gsa-hpprojects/GATK/validationreports/submitted/" + private val md5DB = new MD5DB() final val run = System.getProperty("pipeline.run") == "run" @@ -111,7 +112,7 @@ object PipelineTest extends BaseTest with Logging { private def assertMatchingMD5s(name: String, fileMD5s: Traversable[(File, String)], parameterize: Boolean) { var failed = 0 for ((file, expectedMD5) <- fileMD5s) { - val calculatedMD5 = MD5DB.testFileMD5(name, file, expectedMD5, parameterize) + val calculatedMD5 = md5DB.testFileMD5(name, file, expectedMD5, parameterize) if (!parameterize && expectedMD5 != "" && expectedMD5 != calculatedMD5) failed += 1 } @@ -136,7 +137,7 @@ object PipelineTest extends BaseTest with Logging { println(" value (min,target,max) table key metric") for (validation <- evalSpec.validations) { val table = report.getTable(validation.table) - val key = table.getPrimaryKeyByData(validation.table +: validation.key.split('.') : _*) + val key = table.findRowByData(validation.table +: validation.key.split('.') : _*) val value = String.valueOf(table.get(key, validation.metric)) val inRange = if (value == null) false else validation.inRange(value) val flag = if (!inRange) "*" else " " diff --git a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/DevNullOutputPipelineTest.scala b/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/DevNullOutputPipelineTest.scala index 9bb287ac4..92c40acb1 100644 --- a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/DevNullOutputPipelineTest.scala +++ b/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/DevNullOutputPipelineTest.scala @@ -59,8 +59,8 @@ class DevNullOutputPipelineTest { spec.name = "devnulloutput" spec.args = Array( " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/DevNullOutput.scala", - " -R " + BaseTest.testDir + "exampleFASTA.fasta", - " -I " + BaseTest.testDir + "exampleBAM.bam").mkString + " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", + " -I " + BaseTest.publicTestDir + "exampleBAM.bam").mkString spec.jobRunners = PipelineTest.allJobRunners PipelineTest.executeTest(spec) } diff --git a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleCountLociPipelineTest.scala b/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleCountLociPipelineTest.scala index e737e52ea..9d885dda2 100644 --- a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleCountLociPipelineTest.scala +++ b/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleCountLociPipelineTest.scala @@ -36,8 +36,8 @@ class ExampleCountLociPipelineTest { spec.name = "countloci" spec.args = Array( " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleCountLoci.scala", - " -R " + BaseTest.testDir + "exampleFASTA.fasta", - " -I " + BaseTest.testDir + "exampleBAM.bam", + " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", + " -I " + BaseTest.publicTestDir + "exampleBAM.bam", " -o " + testOut).mkString spec.fileMD5s += testOut -> "ade93df31a6150321c1067e749cae9be" PipelineTest.executeTest(spec) diff --git a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleCountReadsPipelineTest.scala b/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleCountReadsPipelineTest.scala index 8b286f090..1b965d8d2 100644 --- a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleCountReadsPipelineTest.scala +++ b/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleCountReadsPipelineTest.scala @@ -35,8 +35,8 @@ class ExampleCountReadsPipelineTest { spec.name = "countreads" spec.args = Array( " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleCountReads.scala", - " -R " + BaseTest.testDir + "exampleFASTA.fasta", - " -I " + BaseTest.testDir + "exampleBAM.bam").mkString + " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", + " -I " + BaseTest.publicTestDir + "exampleBAM.bam").mkString PipelineTest.executeTest(spec) } } diff --git a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleReadFilterPipelineTest.scala b/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleReadFilterPipelineTest.scala index 7e5e9a93e..c6e4c3507 100644 --- a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleReadFilterPipelineTest.scala +++ b/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleReadFilterPipelineTest.scala @@ -83,8 +83,8 @@ class ExampleReadFilterPipelineTest { spec.name = "examplereadfilter" spec.args = Array( " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleReadFilter.scala", - " -R " + BaseTest.testDir + "exampleFASTA.fasta", - " -I " + BaseTest.testDir + "exampleBAM.bam").mkString + " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", + " -I " + BaseTest.publicTestDir + "exampleBAM.bam").mkString PipelineTest.executeTest(spec) } } diff --git a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleUnifiedGenotyperPipelineTest.scala b/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleUnifiedGenotyperPipelineTest.scala index f598402af..c9d8b59c9 100644 --- a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleUnifiedGenotyperPipelineTest.scala +++ b/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleUnifiedGenotyperPipelineTest.scala @@ -35,11 +35,50 @@ class ExampleUnifiedGenotyperPipelineTest { spec.name = "unifiedgenotyper" spec.args = Array( " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", - " -R " + BaseTest.testDir + "exampleFASTA.fasta", - " -I " + BaseTest.testDir + "exampleBAM.bam", + " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", + " -I " + BaseTest.publicTestDir + "exampleBAM.bam", " -filter QD", " -filterExpression 'QD < 2.0'").mkString spec.jobRunners = PipelineTest.allJobRunners PipelineTest.executeTest(spec) } + + @Test + def testUnifiedGenotyperWithGatkIntervals() { + val spec = new PipelineTestSpec + spec.name = "unifiedgenotyper_with_gatk_intervals" + spec.args = Array( + " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", + " -I " + BaseTest.validationDataLocation + "OV-0930.normal.chunk.bam", + " -R " + BaseTest.hg18Reference, + " -L " + BaseTest.validationDataLocation + "intervalTest.intervals").mkString + spec.jobRunners = Seq("Lsf706") + PipelineTest.executeTest(spec) + } + + @Test + def testUnifiedGenotyperWithBedIntervals() { + val spec = new PipelineTestSpec + spec.name = "unifiedgenotyper_with_bed_intervals" + spec.args = Array( + " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", + " -I " + BaseTest.validationDataLocation + "OV-0930.normal.chunk.bam", + " -R " + BaseTest.hg18Reference, + " -L " + BaseTest.validationDataLocation + "intervalTest.bed").mkString + spec.jobRunners = Seq("Lsf706") + PipelineTest.executeTest(spec) + } + + @Test + def testUnifiedGenotyperWithVcfIntervals() { + val spec = new PipelineTestSpec + spec.name = "unifiedgenotyper_with_vcf_intervals" + spec.args = Array( + " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", + " -I " + BaseTest.validationDataLocation + "OV-0930.normal.chunk.bam", + " -R " + BaseTest.hg18Reference, + " -L " + BaseTest.validationDataLocation + "intervalTest.1.vcf").mkString + spec.jobRunners = Seq("Lsf706") + PipelineTest.executeTest(spec) + } } diff --git a/public/testdata/HiSeq.10000.bgzip.vcf.gz b/public/testdata/HiSeq.10000.bgzip.vcf.gz deleted file mode 100644 index 3f2b9bf14..000000000 Binary files a/public/testdata/HiSeq.10000.bgzip.vcf.gz and /dev/null differ diff --git a/public/testdata/HiSeq.10000.vcf b/public/testdata/HiSeq.10000.vcf deleted file mode 100644 index ac0107746..000000000 --- a/public/testdata/HiSeq.10000.vcf +++ /dev/null @@ -1,10000 +0,0 @@ -##fileformat=VCFv4.0 -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= 0.06"> -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##UnifiedGenotyper="analysis_type=UnifiedGenotyper input_file=[/humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-23/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-24/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-5/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-9/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-6/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-19/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-25/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-4/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-14/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-22/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-2/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-3/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-7/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-16/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-1/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-17/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-8/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-10/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-18/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-20/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-11/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-15/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-21/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-12/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam, /humgen/1kg/analysis/bamsForDataProcessingPapers/scriptsToMakeBams/Q-2970@gsa2-1-temp-13/NA12878.HiSeq.WGS.bwa.cleaned.recal.bam] read_buffer_size=null read_filter=[] intervals=[chrX] 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,chrX] 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=null excludeIntervals=[chrM, chrY] reference_sequence=/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta rodBind=[variant,VCF,wgs.v9/HiSeq.WGS.cleaned.ug.snpfiltered.vcf, mask,Bed,wgs.v9/HiSeq.WGS.cleaned.indels.10.mask] rodToIntervalTrackName=null BTI_merge_rule=UNION DBSNP=null hapmap=null hapmap_chip=null out=wgs.v9/HiSeq.WGS.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" -##VariantFiltration="analysis_type=VariantFiltration input_file=[] read_buffer_size=null read_filter=[] intervals=null excludeIntervals=[chrM, chrY] reference_sequence=/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta rodBind=[variant,VCF,wgs.v9/HiSeq.WGS.cleaned.ug.vcf] rodToIntervalTrackName=null BTI_merge_rule=UNION DBSNP=null hapmap=null hapmap_chip=null out=wgs.v9/HiSeq.WGS.cleaned.ug.snpfiltered.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=[QUAL < 50.0, MQ0 >= 4 && ((MQ0 / (1.0 * DP)) > 0.1), AB > 0.75 && DP > 40, DP > 120 || SB > -0.10] filterName=[LowQual, HARD_TO_VALIDATE, ABFilter, DPFilter] genotypeFilterExpression=[] genotypeFilterName=[] clusterSize=3 clusterWindowSize=10 maskName=Mask NO_HEADER=false" -##source=VariantOptimizer -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 -chr1 109 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1019;Dels=0.00;HRun=0;HaplotypeScore=686.65;MQ=19.20;MQ0=288;OQ=2175.54;QD=2.13;SB=-1042.18 GT:AD:DP:GL:GQ 0/1:610,327:308:-316.30,-95.47,-803.03:99 -chr1 147 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=348;Dels=0.01;HRun=2;HaplotypeScore=268.66;MQ=20.23;MQ0=105;OQ=196.24;QD=0.56;SB=-76.48 GT:AD:DP:GL:GQ 0/1:294,49:118:-57.87,-34.96,-338.46:99 -chr1 177 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=432;Dels=0.02;HRun=2;HaplotypeScore=404.17;MQ=17.76;MQ0=153;OQ=697.20;QD=1.61;SB=-140.54 GT:AD:DP:GL:GQ 0/1:283,140:122:-108.58,-35.57,-292.84:99 -chr1 180 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=630;Dels=0.01;HRun=2;HaplotypeScore=495.41;MQ=14.22;MQ0=327;OQ=885.33;QD=1.41;SB=-412.44 GT:AD:DP:GL:GQ 0/1:466,154:104:-122.27,-30.46,-246.17:99 -chr1 234 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=336;Dels=0.00;HRun=1;HaplotypeScore=423.95;MQ=19.45;MQ0=111;OQ=596.60;QD=1.78;SB=-230.12 GT:AD:DP:GL:GQ 0/1:267,67:106:-94.87,-31.93,-297.68:99 -chr1 235 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=326;Dels=0.00;HRun=2;HaplotypeScore=391.04;MQ=19.68;MQ0=106;OQ=580.03;QD=1.78;SB=-219.50 GT:AD:DP:GL:GQ 0/1:274,47:105:-99.60,-38.31,-293.27:99 -chr1 250 . A C 22.88 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=182;Dels=0.01;HRun=3;HaplotypeScore=244.83;MQ=21.91;MQ0=52;QD=0.13;SB=-23.67 GT:AD:DP:GL:GQ 0/1:148,33:70:-26.66,-21.09,-215.78:55.69 -chr1 291 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=135;Dels=0.00;HRun=0;HaplotypeScore=284.50;MQ=20.72;MQ0=39;OQ=529.94;QD=3.93;SB=-160.31 GT:AD:DP:GL:GQ 0/1:87,43:32:-69.55,-13.28,-54.44:99 -chr1 297 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=0;HaplotypeScore=214.52;MQ=20.93;MQ0=36;OQ=101.21;QD=0.82;SB=-38.97 GT:AD:DP:GL:GQ 0/1:98,15:30:-33.20,-19.79,-87.91:99 -chr1 309 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=0;HaplotypeScore=153.70;MQ=21.12;MQ0=35;OQ=53.98;QD=0.46;SB=-50.01 GT:AD:DP:GL:GQ 0/1:103,9:32:-18.33,-9.64,-96.32:86.82 -chr1 321 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=203;Dels=0.00;HRun=0;HaplotypeScore=612.30;MQ=19.11;MQ0=29;OQ=136.39;QD=0.67;SB=-61.25 GT:AD:DP:GL:GQ 0/1:171,23:33:-33.14,-16.22,-92.98:99 -chr1 327 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=207;Dels=0.00;HRun=3;HaplotypeScore=227.75;MQ=19.74;MQ0=24;OQ=143.34;QD=0.69;SB=-63.56 GT:AD:DP:GL:GQ 0/1:183,21:38:-34.61,-16.99,-113.13:99 -chr1 352 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=325;Dels=0.00;HRun=1;HaplotypeScore=437.89;MQ=18.90;MQ0=142;OQ=774.23;QD=2.38;SB=-355.54 GT:AD:DP:GL:GQ 0/1:238,84:81:-104.82,-24.11,-183.81:99 -chr1 354 . C A 24.89 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=486;Dels=0.01;HRun=1;HaplotypeScore=281.11;MQ=16.12;MQ0=261;QD=0.05;SB=17.54 GT:AD:DP:GL:GQ 0/1:459,24:90:-32.28,-26.51,-269.47:57.71 -chr1 469 . C A 22.04 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=82.51;MQ=26.50;MQ0=12;QD=0.39;SB=-7.00 GT:AD:DP:GL:GQ 0/1:34,21:20:-11.52,-6.03,-45.07:54.85 -chr1 664 . C G 30.66 PASS AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=50.85;QD=25.42;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,2:2:-8.49,-0.60,-0.00:6.02 -chr1 666 . C G 10.99 LowQual AC=1;AF=0.50;AN=2;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=10.99;SB=-10.00 GT:AD:DP:GL:GQ 0/1:0,1:1:-4.35,-0.30,-0.00:1.76 -chr1 2646 rs62635284 G A 0.15 PASS AC=2;AF=1.00;AN=2;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=9.27;MQ=6.23;MQ0=107;OQ=89.13;QD=0.70;SB=-10.00 GT:AD:DP:GL:GQ 1/1:53,75:3:-12.40,-0.90,-0.00:9.03 -chr1 2979 rs62635286 T G 83.67 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=11.99;MQ0=41;OQ=300.29;QD=4.77;SB=-10.00 GT:AD:DP:GL:GQ 1/1:31,32:9:-33.61,-2.71,-0.00:27.09 -chr1 2981 rs62028691 A G 14.69 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=11.89;MQ0=42;OQ=285.31;QD=4.46;SB=-10.00 GT:AD:DP:GL:GQ 1/1:31,33:9:-32.12,-2.71,-0.00:27.08 -chr1 3759 . C A 0.19 PASS AC=1;AF=0.50;AN=2;DP=146;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=9.71;MQ0=116;OQ=458.45;QD=3.14;SB=-211.61 GT:AD:DP:GL:GQ 0/1:106,40:25:-56.66,-7.53,-33.77:99 -chr1 4536 rs11582131 G C 0.18 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=9.63;MQ=12.37;MQ0=52;OQ=335.66;QD=4.48;SB=8.06 GT:AD:DP:GL:GQ 0/1:42,33:16:-41.67,-4.82,-26.29:99 -chr1 4540 . G A 47.71 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=2;HaplotypeScore=11.12;MQ=11.52;MQ0=49;QD=0.67;SB=8.05 GT:AD:DP:GL:GQ 0/1:66,5:13:-11.97,-3.92,-35.35:80.54 -chr1 4562 rs11490464 C G 0.14 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=2.62;MQ=11.28;MQ0=37;OQ=136.40;QD=2.44;SB=-10.00 GT:AD:DP:GL:GQ 0/1:26,30:9:-19.64,-2.72,-14.87:99 -chr1 4770 rs6682375 A G 0.32 PASS AC=2;AF=1.00;AN=2;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=1.93;MQ=26.23;MQ0=31;OQ=2992.25;QD=24.73;SB=-1410.84 GT:AD:DP:GL:GQ 1/1:9,111:84:-306.27,-28.58,-3.46:99 -chr1 4793 rs6682385 A G 0.15 PASS AC=2;AF=1.00;AN=2;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=8.98;MQ=29.61;MQ0=5;OQ=3517.41;QD=29.56;SB=-1722.01 GT:AD:DP:GL:GQ 1/1:4,115:109:-350.74,-32.88,-0.10:99 -chr1 5074 rs11586607 T G 0.01 FDRtranche2.00to10.00 AC=2;AF=1.00;AN=2;DB;DP=126;Dels=0.00;HRun=1;HaplotypeScore=24.34;MQ=21.42;MQ0=68;OQ=1230.02;QD=9.76;SB=-234.94 GT:AD:DP:GL:GQ 1/1:29,97:39:-130.41,-11.75,-3.82:79.31 -chr1 5137 rs62636497 A T 140.49 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=21.69;MQ0=25;OQ=1453.92;QD=17.73;SB=-222.33 GT:AD:DP:GL:GQ 1/1:0,74:39:-148.99,-11.75,-0.01:99 -chr1 5966 . T G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=129;Dels=0.18;HRun=5;HaplotypeScore=140.84;MQ=21.40;MQ0=8;OQ=1764.68;QD=13.68;SB=-234.42 GT:AD:DP:GL:GQ 1/1:0,106:53:-180.07,-15.66,-0.02:99 -chr1 6092 . C A 11.16 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=136;Dels=0.00;HRun=0;HaplotypeScore=9.08;MQ=27.90;MQ0=10;QD=0.08;SB=14.05 GT:AD:DP:GL:GQ 0/1:125,11:94:-32.68,-28.32,-307.61:43.65 -chr1 6120 rs11489794 G C 0.46 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=3.83;MQ=27.31;MQ0=11;OQ=181.15;QD=2.01;SB=8.06 GT:AD:DP:GL:GQ 0/1:73,17:66:-41.29,-19.89,-251.91:99 -chr1 6151 rs62028673 C G 0.34 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=22.13;MQ0=10;OQ=58.79;QD=1.73;SB=-6.99 GT:AD:DP:GL:GQ 0/1:24,10:14:-13.38,-4.22,-45.26:91.62 -chr1 6241 rs17041382 T C 5.47 PASS AC=1;AF=0.50;AN=2;DB;DP=138;Dels=0.00;HRun=0;HaplotypeScore=4.98;MQ=14.62;MQ0=74;OQ=755.36;QD=5.47;SB=-258.37 GT:AD:DP:GL:GQ 0/1:39,99:33:-88.77,-9.95,-20.05:99 -chr1 6358 rs3210724 G C 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=19.20;MQ=25.41;MQ0=15;OQ=678.86;QD=3.90;SB=-150.77 GT:AD:DP:GL:GQ 0/1:131,42:113:-105.24,-34.07,-360.44:99 -chr1 6360 rs7359297 A G 49.26 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=171;Dels=0.00;HRun=2;HaplotypeScore=19.20;MQ=25.54;MQ0=15;QD=0.29;SB=20.10 GT:AD:DP:GL:GQ 0/1:155,16:111:-41.64,-33.43,-398.12:82.10 -chr1 6397 rs15642 C T 157.37 PASS AC=1;AF=0.50;AN=2;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=21.39;MQ0=24;OQ=850.53;QD=7.88;SB=-122.64 GT:AD:DP:GL:GQ 0/1:45,63:33:-98.28,-9.94,-33.57:99 -chr1 7270 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=153;Dels=0.00;HRun=0;HaplotypeScore=18.12;MQ=8.37;MQ0=128;OQ=66.01;QD=0.43;SB=-47.55 GT:AD:DP:GL:GQ 0/1:137,16:8:-12.30,-2.42,-14.38:98.84 -chr1 7558 rs7357853 G A 28.66 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=2.85;MQ=11.88;MQ0=88;QD=0.23;SB=-10.00 GT:AD:DP:GL:GQ 0/1:113,10:21:-12.48,-6.33,-62.63:61.49 -chr1 7609 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=120;Dels=0.00;HRun=1;HaplotypeScore=4.53;MQ=19.87;MQ0=60;OQ=69.47;QD=0.58;SB=-10.00 GT:AD:DP:GL:GQ 0/1:98,22:48:-24.69,-14.46,-166.38:99 -chr1 7766 . C T 24.46 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=0;HaplotypeScore=9.88;MQ=9.94;MQ0=60;QD=0.35;SB=-10.00 GT:AD:DP:GL:GQ 0/1:66,3:7:-7.84,-2.11,-15.08:57.28 -chr1 9089 rs28609851 T A 1.71 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=14.01;MQ0=34;OQ=172.68;QD=2.93;SB=-37.66 GT:AD:DP:GL:GQ 0/1:50,9:19:-26.28,-5.72,-45.27:99 -chr1 9185 rs2974813 C T 45.14 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=3.92;MQ0=67;QD=0.65;SB=-47.56 GT:AD:DP:GL:GQ 1/1:67,2:2:-7.92,-0.60,-0.00:6.02 -chr1 9721 rs12354145 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=128;Dels=0.00;HRun=2;HaplotypeScore=26.09;MQ=12.03;MQ0=77;OQ=197.90;QD=1.55;SB=-10.00 GT:AD:DP:GL:GQ 0/1:97,31:18:-28.50,-5.42,-36.05:99 -chr1 9805 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=195;Dels=0.00;HRun=1;HaplotypeScore=1.10;MQ=10.83;MQ0=134;OQ=142.73;QD=0.73;SB=-10.00 GT:AD:DP:GL:GQ 0/1:171,24:24:-24.81,-7.25,-68.77:99 -chr1 9993 rs7354882 G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=155;Dels=0.00;HRun=0;HaplotypeScore=22.48;MQ=21.20;MQ0=19;OQ=727.76;QD=4.70;SB=-285.16 GT:AD:DP:GL:GQ 0/1:126,29:124:-113.46,-37.39,-308.40:99 -chr1 10108 rs6682921 G A 129.70 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=249;Dels=0.00;HRun=1;HaplotypeScore=98.13;MQ=8.71;MQ0=185;QD=0.52;SB=-64.03 GT:AD:DP:GL:GQ 0/1:175,74:25:-23.78,-7.53,-70.54:99 -chr1 10113 rs11490226 T C 60.45 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=99.00;MQ=8.29;MQ0=191;QD=0.24;SB=-6.56 GT:AD:DP:GL:GQ 0/1:200,52:22:-15.96,-6.63,-68.61:93.28 -chr1 10117 . G A 27.78 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=251;Dels=0.00;HRun=0;HaplotypeScore=92.18;MQ=8.29;MQ0=191;QD=0.11;SB=-12.58 GT:AD:DP:GL:GQ 0/1:210,41:21:-12.39,-6.33,-58.67:60.61 -chr1 10375 rs6683179 G T 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=229;Dels=0.00;HRun=0;HaplotypeScore=2.35;MQ=7.78;MQ0=173;OQ=50.55;QD=0.22;SB=-10.00 GT:AD:DP:GL:GQ 0/1:152,76:16:-13.16,-4.82,-44.89:83.39 -chr1 10410 rs11489908 A G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DB;DP=236;Dels=0.00;HRun=2;HaplotypeScore=3.67;MQ=7.06;MQ0=196;OQ=84.39;QD=0.36;SB=-10.00 GT:AD:DP:GL:GQ 0/1:188,48:18:-17.15,-5.42,-52.83:99 -chr1 16862 rs376349 A G 0.50 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=2;HaplotypeScore=2.47;MQ=20.73;MQ0=3;OQ=399.27;QD=24.95;SB=-188.41 GT:AD:DP:GL:GQ 1/1:2,14:12:-43.52,-3.61,-0.00:36.11 -chr1 18110 rs4413987 G A 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=114;Dels=0.00;HRun=0;HaplotypeScore=6.99;MQ=6.98;MQ0=101;OQ=80.12;QD=0.70;SB=-10.00 GT:AD:DP:GL:GQ 0/1:95,19:5:-12.80,-1.51,-7.39:58.87 -chr1 18357 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=101;Dels=0.00;HRun=0;HaplotypeScore=8.76;MQ=5.01;MQ0=96;OQ=60.18;QD=0.60;SB=-6.99 GT:AD:DP:GL:GQ 0/1:80,21:4:-10.51,-1.20,-3.97:27.63 -chr1 18421 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=78;Dels=0.00;HRun=0;HaplotypeScore=23.14;MQ=14.44;MQ0=48;OQ=339.38;QD=4.35;SB=-90.89 GT:AD:DP:GL:GQ 0/1:55,23:25:-44.76,-7.53,-46.87:99 -chr1 18426 rs4099234 A G 0.05 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=22.14;MQ=14.77;MQ0=46;OQ=857.23;QD=11.13;SB=-429.56 GT:AD:DP:GL:GQ 1/1:24,53:25:-89.32,-7.53,-0.01:75.22 -chr1 18451 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=15;HaplotypeScore=19.76;MQ=19.64;MQ0=16;OQ=152.23;QD=2.67;SB=-85.40 GT:AD:DP:GL:GQ 0/1:45,12:33:-28.45,-9.95,-82.12:99 -chr1 18454 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=47.13;MQ=19.20;MQ0=19;OQ=58.45;QD=0.99;SB=-20.71 GT:AD:DP:GL:GQ 0/1:53,6:35:-19.67,-10.55,-115.15:91.28 -chr1 18526 rs2418705 T A 37.69 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=4.16;MQ0=59;QD=0.62;SB=-10.00 GT:AD:DP:GL:GQ 1/1:52,9:2:-7.18,-0.60,-0.00:6.02 -chr1 18698 rs3871714 A G 0.86 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=9.06;MQ0=38;OQ=98.37;QD=2.19;SB=-10.00 GT:AD:DP:GL:GQ 1/1:27,18:4:-13.37,-1.21,-0.00:12.03 -chr1 18726 rs16924801 C A 45.81 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=3.57;MQ=10.40;MQ0=25;QD=1.27;SB=-10.00 GT:AD:DP:GL:GQ 1/1:31,5:2:-7.99,-0.60,-0.00:6.02 -chr1 20391 rs4248192 C T 0.40 PASS AC=1;AF=0.50;AN=2;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=17.17;MQ0=74;OQ=114.21;QD=1.08;SB=-10.00 GT:AD:DP:GL:GQ 0/1:95,11:32:-24.34,-9.64,-88.28:99 -chr1 20411 rs62028215 T G 8.08 PASS AC=1;AF=0.50;AN=2;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=3.84;MQ=18.51;MQ0=71;OQ=573.84;QD=5.26;SB=-10.00 GT:AD:DP:GL:GQ 0/1:56,53:38:-72.12,-11.45,-46.57:99 -chr1 20723 rs28673882 G C 0.08 PASS AC=1;AF=0.50;AN=2;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=9.28;MQ=29.99;MQ0=37;OQ=163.32;QD=1.45;SB=40.84 GT:AD:DP:GL:GQ 0/1:100,13:69:-40.42,-20.80,-251.48:99 -chr1 20786 rs806731 G T 139.58 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=34.31;MQ0=5;OQ=1407.60;QD=31.99;SB=-624.57 GT:AD:DP:GL:GQ 1/1:0,44:38:-144.35,-11.44,-0.01:99 -chr1 21158 rs806729 A C 233.61 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=18.41;MQ0=5;OQ=71.14;QD=7.90;SB=-10.00 GT:AD:DP:GL:GQ 1/1:6,3:3:-10.60,-0.90,-0.00:9.03 -chr1 30569 rs62101646 G A 24.23 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=13.59;MQ0=55;QD=0.37;SB=-0.99 GT:AD:DP:GL:GQ 0/1:53,12:8:-8.12,-2.41,-18.79:57.05 -chr1 30757 rs56954914 G A 38.24 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=7.79;MQ0=81;QD=0.44;SB=-10.00 GT:AD:DP:GL:GQ 0/1:56,30:4:-8.31,-1.20,-6.94:57.33 -chr1 30916 . C T 44.25 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=6.25;MQ0=41;QD=1.03;SB=-10.00 GT:AD:DP:GL:GQ 1/1:40,3:2:-7.83,-0.60,-0.00:6.02 -chr1 41536 rs2531251 T C 28.51 LowQual AC=1;AF=0.50;AN=2;DB;DP=6;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=19.20;MQ0=3;QD=4.75;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,2:3:-7.04,-0.90,-3.46:25.52 -chr1 41761 . C A 0.43 PASS AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=4.86;MQ=27.62;MQ0=8;OQ=172.06;QD=5.55;SB=14.07 GT:AD:DP:GL:GQ 0/1:17,14:19:-26.21,-5.72,-39.58:99 -chr1 41791 . G A 3.24 PASS AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.83;MQ=30.13;MQ0=12;OQ=368.88;QD=8.20;SB=14.07 GT:AD:DP:GL:GQ 0/1:28,17:31:-49.51,-9.34,-69.71:99 -chr1 42101 rs2691277 T G 379.72 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=32.14;MQ0=8;OQ=1117.45;QD=27.25;SB=-498.06 GT:AD:DP:GL:GQ 1/1:0,41:32:-115.34,-9.64,-0.01:96.29 -chr1 44243 rs2691279 T C 13.38 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=44.42;MQ0=2;QD=0.32;SB=29.13 GT:AD:DP:GL:GQ 0/1:35,7:40:-16.65,-12.05,-143.10:46.01 -chr1 44449 . T C 10.02 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=30.96;MQ0=0;QD=0.25;SB=38.15 GT:AD:DP:GL:GQ 0/1:31,9:34:-14.48,-10.24,-121.45:42.40 -chr1 44539 rs2462492 C T 2.85 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=48.14;MQ0=0;OQ=219.90;QD=4.40;SB=-111.03 GT:AD:DP:GL:GQ 0/1:40,10:50:-40.33,-15.06,-146.68:99 -chr1 44571 . G C 349.91 SnpCluster AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=22.88;MQ=46.02;MQ0=0;QD=5.74;SB=-120.67 GT:AD:DP:GL:GQ 0/1:43,18:49:-53.04,-14.77,-155.67:99 -chr1 44573 . A T 77.97 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=5;HaplotypeScore=28.86;MQ=46.27;MQ0=0;QD=1.22;SB=18.79 GT:AD:DP:GL:GQ 0/1:55,9:53:-27.05,-15.97,-167.03:99 -chr1 44575 . T C 100.77 SnpCluster AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=0;HaplotypeScore=36.58;MQ=45.60;MQ0=1;QD=1.53;SB=-17.16 GT:AD:DP:GL:GQ 0/1:57,9:54:-29.63,-16.27,-179.47:99 -chr1 44579 . C T 185.88 SnpCluster AC=1;AF=0.50;AN=2;DP=83;Dels=0.04;HRun=5;HaplotypeScore=85.91;MQ=43.82;MQ0=2;QD=2.24;SB=-100.05 GT:AD:DP:GL:GQ 0/1:66,14:58:-39.34,-17.47,-169.22:99 -chr1 44707 . G A 14.95 PASS AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=25.67;MQ0=14;OQ=285.82;QD=6.35;SB=-102.92 GT:AD:DP:GL:GQ 0/1:29,16:26:-39.70,-7.83,-56.06:99 -chr1 44948 . T A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=2;HaplotypeScore=3.69;MQ=36.35;MQ0=4;OQ=152.52;QD=2.99;SB=0.17 GT:AD:DP:GL:GQ 0/1:39,12:36:-29.38,-10.84,-106.91:99 -chr1 45027 rs3091274 C A 22.40 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=21.32;MQ0=9;OQ=324.14;QD=13.51;SB=-88.90 GT:AD:DP:GL:GQ 1/1:0,24:10:-36.00,-3.01,-0.00:30.09 -chr1 45162 rs10399749 C T 268.24 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=27.59;MQ0=3;OQ=1749.04;QD=37.21;SB=-889.19 GT:AD:DP:GL:GQ 1/1:1,46:44:-178.50,-13.25,-0.01:99 -chr1 45189 rs3107975 T C 528.74 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.64;MQ0=0;OQ=1690.04;QD=36.74;SB=-682.96 GT:AD:DP:GL:GQ 1/1:0,46:46:-172.60,-13.85,-0.01:99 -chr1 45408 rs28396308 C T 25.10 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=23.65;MQ0=4;OQ=659.03;QD=19.97;SB=-174.67 GT:AD:DP:GL:GQ 1/1:0,33:17:-69.49,-5.12,-0.00:51.17 -chr1 46501 rs2691308 C T 1.65 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=36.83;MQ0=2;OQ=218.70;QD=3.22;SB=47.17 GT:AD:DP:GL:GQ 0/1:55,13:65:-44.73,-19.58,-190.42:99 -chr1 46662 rs2691309 T C 45.27 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=41.65;MQ0=3;QD=1.29;SB=26.11 GT:AD:DP:GL:GQ 0/1:27,8:32:-17.45,-9.64,-107.04:78.10 -chr1 46896 rs2691311 T C 94.73 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=47.00;MQ0=0;OQ=492.79;QD=6.48;SB=-211.35 GT:AD:DP:GL:GQ 0/1:55,21:75:-75.15,-22.59,-219.09:99 -chr1 46927 rs2548884 G A 0.20 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=44.33;MQ0=0;OQ=115.48;QD=1.89;SB=-71.32 GT:AD:DP:GL:GQ 0/1:53,8:60:-32.90,-18.07,-195.48:99 -chr1 47021 rs6658003 G C 0.57 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=8.74;MQ0=44;OQ=79.96;QD=1.45;SB=-46.90 GT:AD:DP:GL:GQ 0/1:36,19:6:-13.09,-1.81,-12.99:99 -chr1 47109 rs2691313 C G 35.94 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=36.99;MQ0=0;OQ=346.71;QD=6.80;SB=47.18 GT:AD:DP:GL:GQ 0/1:38,13:51:-53.32,-15.37,-164.95:99 -chr1 47155 . C T 135.45 PASS AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=34.92;MQ0=10;OQ=1281.86;QD=17.56;SB=-510.08 GT:AD:DP:GL:GQ 0/1:34,39:60:-149.57,-18.10,-69.03:99 -chr1 47239 rs2854673 C T 32.39 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=43.73;MQ0=3;OQ=244.39;QD=4.61;SB=47.16 GT:AD:DP:GL:GQ 0/1:39,14:49:-42.48,-14.76,-140.73:99 -chr1 47719 . T A 0.78 PASS AC=1;AF=0.50;AN=2;DP=79;Dels=0.00;HRun=2;HaplotypeScore=3.14;MQ=19.08;MQ0=29;OQ=670.79;QD=8.49;SB=-194.63 GT:AD:DP:GL:GQ 0/1:47,32:46:-84.22,-13.86,-89.29:99 -chr1 48074 rs2691335 A G 2.10 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=24.51;MQ0=2;OQ=156.22;QD=22.32;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,7:5:-19.18,-1.51,-0.00:15.05 -chr1 48634 . T C 2.39 PASS AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=2;HaplotypeScore=1.66;MQ=33.49;MQ0=8;OQ=733.26;QD=12.22;SB=-133.25 GT:AD:DP:GL:GQ 0/1:32,28:50:-91.67,-15.06,-103.96:99 -chr1 50195 rs62637816 T C 137.58 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=17.45;MQ0=31;OQ=544.88;QD=7.46;SB=-273.42 GT:AD:DP:GL:GQ 0/1:46,26:42:-70.43,-12.65,-88.66:99 -chr1 50884 rs3844232 G A 43.24 PASS AC=1;AF=0.50;AN=2;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=19.69;MQ0=8;OQ=74.12;QD=4.12;SB=-10.00 GT:AD:DP:GL:GQ 0/1:11,7:6:-12.50,-1.81,-9.19:73.80 -chr1 51151 . T A 30.50 LowQual AC=1;AF=0.50;AN=2;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=24.43;MQ0=2;QD=5.08;SB=-37.96 GT:AD:DP:GL:GQ 0/1:4,2:4:-7.54,-1.20,-7.68:63.33 -chr1 51152 . A G 76.91 PASS AC=1;AF=0.50;AN=2;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=26.59;MQ0=2;OQ=62.44;QD=8.92;SB=-39.93 GT:AD:DP:GL:GQ 0/1:4,3:5:-11.03,-1.51,-8.33:68.29 -chr1 51305 rs2531261 A G 318.95 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=33.94;MQ0=3;OQ=1035.37;QD=25.88;SB=-471.86 GT:AD:DP:GL:GQ 1/1:0,40:29:-107.13,-8.73,-0.01:87.27 -chr1 51850 . A G 82.68 PASS AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=39.81;MQ0=7;OQ=720.99;QD=12.22;SB=-171.50 GT:AD:DP:GL:GQ 0/1:32,27:50:-90.45,-15.06,-94.52:99 -chr1 51852 . G C 25.49 PASS AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=40.15;MQ0=6;OQ=1021.36;QD=17.61;SB=-245.09 GT:AD:DP:GL:GQ 0/1:31,27:50:-120.48,-15.06,-101.09:99 -chr1 52066 rs28402963 T C 139.56 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=2.83;MQ=39.80;MQ0=3;OQ=684.28;QD=9.50;SB=-320.22 GT:AD:DP:GL:GQ 0/1:42,30:68:-92.19,-20.48,-169.52:99 -chr1 52134 rs28599927 A G 180.85 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.03;MQ=31.13;MQ0=5;OQ=314.17;QD=8.73;SB=-124.71 GT:AD:DP:GL:GQ 0/1:23,13:30:-43.74,-9.04,-73.62:99 -chr1 52441 rs2531315 G A 15.83 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=19.89;MQ0=7;OQ=286.62;QD=17.91;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,16:8:-32.24,-2.41,-0.00:24.08 -chr1 52640 rs3844233 A T 1.57 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=20.92;MQ0=32;OQ=114.33;QD=2.04;SB=-23.31 GT:AD:DP:GL:GQ 0/1:45,11:17:-19.84,-5.12,-46.79:99 -chr1 53560 . T C 39.15 PASS AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=25.49;MQ0=11;OQ=919.76;QD=11.22;SB=-454.58 GT:AD:DP:GL:GQ 0/1:47,35:69:-116.05,-20.79,-145.77:99 -chr1 54476 rs1627939 T A 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=99;Dels=0.00;HRun=2;HaplotypeScore=1.16;MQ=27.48;MQ0=38;OQ=233.94;QD=2.36;SB=-139.05 GT:AD:DP:GL:GQ 0/1:84,15:50:-41.74,-15.06,-148.46:99 -chr1 54790 rs996010 G T 31.78 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=23.12;MQ0=20;QD=0.47;SB=29.08 GT:AD:DP:GL:GQ 0/1:55,13:40:-18.51,-12.05,-121.17:64.61 -chr1 54839 rs2854687 C T 10.60 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=27.08;MQ0=0;OQ=1633.87;QD=34.04;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,48:40:-166.98,-12.05,-0.01:99 -chr1 55660 . T C 47.12 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=8.71;MQ0=70;QD=0.52;SB=-10.00 GT:AD:DP:GL:GQ 0/1:73,17:9:-10.71,-2.71,-24.43:79.96 -chr1 55735 . T G 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=7.24;MQ0=61;OQ=58.14;QD=0.81;SB=-10.00 GT:AD:DP:GL:GQ 0/1:55,17:5:-10.60,-1.51,-6.69:51.83 -chr1 56025 rs62639105 A T 0.18 PASS AC=1;AF=0.50;AN=2;DB;DP=12;Dels=0.00;HRun=3;HaplotypeScore=1.00;MQ=23.00;MQ0=0;OQ=377.29;QD=31.44;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,11:12:-44.38,-3.61,-3.44:2.23 -chr1 60591 . C T 1.69 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=14.15;MQ0=46;OQ=324.67;QD=4.39;SB=-159.64 GT:AD:DP:GL:GQ 0/1:50,24:28:-44.18,-8.43,-61.59:99 -chr1 60624 . T C 29.51 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=5.38;MQ0=69;QD=0.40;SB=-6.99 GT:AD:DP:GL:GQ 0/1:53,20:3:-7.14,-0.90,-3.77:28.64 -chr1 63704 rs3020697 C T 122.92 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.04;MQ=34.36;MQ0=1;OQ=168.10;QD=12.93;SB=-51.56 GT:AD:DP:GL:GQ 1/1:0,13:6:-20.39,-1.81,-0.01:18.05 -chr1 64418 . A G 43.84 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;HRun=1;HaplotypeScore=8.82;MQ=6.47;MQ0=82;QD=0.45;SB=-10.00 GT:AD:DP:GL:GQ 1/1:82,16:2:-7.79,-0.60,-0.00:6.02 -chr1 64433 . T A 31.10 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=7.92;MQ0=71;QD=0.33;SB=-10.00 GT:AD:DP:GL:GQ 0/1:82,12:3:-7.30,-0.90,-3.84:29.36 -chr1 64544 rs13328683 G T 4.16 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=1.57;MQ=18.78;MQ0=9;OQ=435.52;QD=13.61;SB=-10.00 GT:AD:DP:GL:GQ 1/1:10,22:12:-47.14,-3.61,-0.00:36.12 -chr1 67325 rs2462497 G A 48.02 LowQual AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=20.51;MQ0=2;QD=12.01;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,4:2:-8.21,-0.60,-0.00:6.02 -chr1 72009 . A G 32.65 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=0;HaplotypeScore=5.60;MQ=18.28;MQ0=7;QD=1.72;SB=-38.67 GT:AD:DP:GL:GQ 0/1:14,5:11:-9.86,-3.31,-31.53:65.48 -chr1 72112 rs1851945 A G 1.46 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=25.77;MQ0=4;OQ=504.38;QD=26.55;SB=-10.00 GT:AD:DP:GL:GQ 1/1:4,15:15:-54.03,-4.52,-0.00:45.14 -chr1 72166 rs2907073 T C 81.98 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=27.95;MQ0=1;OQ=468.64;QD=33.47;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,14:13:-50.45,-3.91,-0.00:39.13 -chr1 72179 rs2260604 A C 22.50 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=24.51;MQ0=4;OQ=244.12;QD=17.44;SB=-10.00 GT:AD:DP:GL:GQ 1/1:4,10:10:-28.01,-3.01,-0.01:30.03 -chr1 72195 . T C 61.39 PASS AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=19.33;MQ0=10;OQ=206.79;QD=10.34;SB=-10.00 GT:AD:DP:GL:GQ 0/1:13,7:10:-26.97,-3.01,-11.90:88.90 -chr1 73690 . A G 59.97 Indel AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=8.93;MQ=23.64;MQ0=3;QD=4.28;SB=-6.99 GT:AD:DP:GL:GQ 0/1:7,7:8:-11.69,-2.41,-21.22:92.80 -chr1 73692 . G A 71.09 Indel AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=3;HaplotypeScore=9.93;MQ=23.64;MQ0=3;QD=5.08;SB=-6.99 GT:AD:DP:GL:GQ 0/1:7,7:8:-12.80,-2.41,-18.45:99 -chr1 73996 . A T 22.55 PASS AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=27.59;MQ0=22;OQ=466.23;QD=7.40;SB=-57.87 GT:AD:DP:GL:GQ 0/1:36,27:38:-61.35,-11.44,-82.94:99 -chr1 74170 rs4118012 C A 85.72 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=197.97;QD=32.99;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,6:6:-23.37,-1.81,-0.00:18.06 -chr1 74355 rs3871778 C G 11.43 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=22.46;MQ0=2;OQ=92.52;QD=18.50;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,5:3:-12.74,-0.90,-0.00:9.03 -chr1 74885 . G A 80.42 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=18.46;MQ0=14;OQ=538.01;QD=13.12;SB=-187.68 GT:AD:DP:GL:GQ 0/1:20,21:26:-64.92,-7.83,-36.63:99 -chr1 80719 . G A 41.54 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=8.20;MQ0=31;QD=1.19;SB=-10.00 GT:AD:DP:GL:GQ 0/1:32,2:3:-8.34,-0.91,-2.50:15.90 -chr1 81004 rs4245761 G T 39.81 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=13.75;MQ0=7;QD=3.32;SB=-10.00 GT:AD:DP:GL:GQ 1/1:7,5:2:-7.39,-0.60,-0.00:6.02 -chr1 81077 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=13;HaplotypeScore=2.26;MQ=18.21;MQ0=7;OQ=85.86;QD=5.05;SB=-62.92 GT:AD:DP:GL:GQ 0/1:11,6:5:-13.38,-1.51,-3.74:22.35 -chr1 81199 rs4245763 A T 30.68 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=13.70;MQ0=7;QD=3.07;SB=-10.00 GT:AD:DP:GL:GQ 1/1:6,4:2:-6.48,-0.60,-0.00:6.01 -chr1 81378 . A C 3.99 PASS AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=33.30;MQ0=0;OQ=188.72;QD=4.72;SB=-114.61 GT:AD:DP:GL:GQ 0/1:31,9:34:-32.39,-10.24,-89.64:99 -chr1 81399 rs6702460 G T 307.92 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=32.81;MQ0=0;OQ=1379.58;QD=33.65;SB=-370.87 GT:AD:DP:GL:GQ 1/1:0,41:37:-141.55,-11.14,-0.01:99 -chr1 81444 rs1524604 G A 325.75 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.68;MQ0=1;OQ=1101.93;QD=36.73;SB=-340.44 GT:AD:DP:GL:GQ 1/1:0,30:28:-113.78,-8.43,-0.01:84.28 -chr1 81611 rs4256762 C T 100.30 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=17.29;MQ0=34;OQ=684.35;QD=12.01;SB=-10.00 GT:AD:DP:GL:GQ 1/1:14,43:19:-75.91,-5.72,-3.90:18.23 -chr1 82517 . T C 0.75 PASS AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=13.00;MQ0=6;OQ=70.17;QD=3.19;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,22:3:-10.51,-0.90,-0.00:9.03 -chr1 86134 . C G 0.28 PASS AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=17.64;MQ0=31;OQ=214.58;QD=2.38;SB=-33.05 GT:AD:DP:GL:GQ 0/1:81,9:51:-40.11,-15.36,-187.83:99 -chr1 88546 . G A 0.08 PASS AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=24.25;MQ0=8;OQ=736.28;QD=19.90;SB=-10.00 GT:AD:DP:GL:GQ 0/1:13,24:26:-84.74,-7.83,-23.08:99 -chr1 88616 rs4504463 T C 1.95 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=19.27;MQ0=29;OQ=80.37;QD=1.55;SB=-10.00 GT:AD:DP:GL:GQ 0/1:43,9:21:-17.65,-6.33,-64.09:99 -chr1 88704 . G A 26.43 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=13.14;MQ0=25;QD=0.76;SB=-10.00 GT:AD:DP:GL:GQ 0/1:33,2:8:-8.34,-2.41,-22.88:59.26 -chr1 88715 . A G 0.29 PASS AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=13.96;MQ0=21;OQ=53.96;QD=1.74;SB=-10.00 GT:AD:DP:GL:GQ 0/1:28,3:8:-11.09,-2.41,-20.54:86.80 -chr1 88808 . C T 3.03 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=19.56;MQ0=9;OQ=459.05;QD=18.36;SB=-49.56 GT:AD:DP:GL:GQ 1/1:1,24:12:-49.49,-3.61,-0.00:36.12 -chr1 88856 rs1851939 G A 178.37 HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=30.10;MQ0=10;QD=3.64;SB=-37.62 GT:AD:DP:GL:GQ 0/1:36,12:37:-32.26,-11.14,-102.50:99 -chr1 88918 . C A 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=6.89;MQ=32.20;MQ0=8;OQ=309.74;QD=3.64;SB=-68.70 GT:AD:DP:GL:GQ 0/1:64,21:74:-56.55,-22.29,-199.33:99 -chr1 88963 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=0;HaplotypeScore=30.09;MQ=26.41;MQ0=31;OQ=291.13;QD=2.62;SB=-116.74 GT:AD:DP:GL:GQ 0/1:88,23:71:-53.80,-21.40,-203.68:99 -chr1 88966 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=0;HaplotypeScore=24.42;MQ=26.07;MQ0=32;OQ=253.10;QD=2.32;SB=-149.24 GT:AD:DP:GL:GQ 0/1:88,21:67:-48.78,-20.19,-197.64:99 -chr1 89000 . A G 0.14 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=15.31;MQ0=39;OQ=157.34;QD=2.76;SB=-51.84 GT:AD:DP:GL:GQ 0/1:48,9:10:-22.04,-3.02,-12.09:90.71 -chr1 89029 . C T 23.46 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=1;HaplotypeScore=1.84;MQ=12.16;MQ0=50;QD=0.36;SB=5.02 GT:AD:DP:GL:GQ 0/1:50,16:9:-8.34,-2.71,-21.03:56.28 -chr1 89043 . T C 25.04 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=9.57;MQ0=58;QD=0.36;SB=-0.97 GT:AD:DP:GL:GQ 0/1:54,16:6:-7.59,-1.81,-16.33:57.86 -chr1 89188 . C T 0.06 PASS AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=1;HaplotypeScore=2.43;MQ=17.90;MQ0=10;OQ=61.10;QD=3.39;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,3:7:-11.50,-2.11,-14.49:93.93 -chr1 89528 . C T 1.15 PASS AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=22.04;MQ0=0;OQ=168.19;QD=24.03;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,6:5:-20.38,-1.51,-0.00:15.05 -chr1 90974 rs62639107 G T 14.16 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=10.20;MQ0=34;QD=0.33;SB=-0.97 GT:AD:DP:GL:GQ 0/1:33,10:6:-6.49,-1.81,-14.67:46.83 -chr1 91131 . G A 0.50 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=10.39;MQ0=55;OQ=206.73;QD=2.79;SB=-10.00 GT:AD:DP:GL:GQ 0/1:41,33:9:-26.67,-2.71,-7.60:48.84 -chr1 91212 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=134;Dels=0.01;HRun=13;HaplotypeScore=35.68;MQ=19.40;MQ0=63;OQ=147.19;QD=1.10;SB=-6.99 GT:AD:DP:GL:GQ 0/1:107,25:41:-30.37,-12.37,-109.55:99 -chr1 91252 . A C 43.23 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=148;Dels=0.00;HRun=1;HaplotypeScore=36.75;MQ=16.93;MQ0=85;QD=0.29;SB=-10.00 GT:AD:DP:GL:GQ 0/1:138,10:43:-20.56,-12.95,-127.64:76.06 -chr1 91549 . A G 49.47 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=209;Dels=0.00;HRun=0;HaplotypeScore=15.98;MQ=27.81;MQ0=39;QD=0.24;SB=65.80 GT:AD:DP:GL:GQ 0/1:179,30:144:-51.61,-43.38,-519.29:82.31 -chr1 91758 . G A 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=1;HaplotypeScore=1.60;MQ=22.49;MQ0=25;OQ=143.40;QD=2.17;SB=15.64 GT:AD:DP:GL:GQ 0/1:56,10:34:-27.86,-10.24,-97.22:99 -chr1 91835 . T C 60.94 PASS AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=20.01;MQ0=36;OQ=785.45;QD=10.47;SB=-10.00 GT:AD:DP:GL:GQ 0/1:43,32:33:-91.79,-9.96,-12.24:22.78 -chr1 91851 rs4109800 G C 35.73 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=19.96;MQ0=33;OQ=1198.57;QD=15.98;SB=-10.00 GT:AD:DP:GL:GQ 0/1:41,34:33:-133.08,-9.94,-16.89:69.53 -chr1 91938 . G A 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=1;HaplotypeScore=2.53;MQ=14.92;MQ0=47;OQ=298.50;QD=3.21;SB=-10.00 GT:AD:DP:GL:GQ 0/1:77,15:21:-39.46,-6.32,-39.15:99 -chr1 92459 rs3912701 G A 1.57 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=1.98;MQ=17.65;MQ0=34;OQ=809.52;QD=14.99;SB=-10.00 GT:AD:DP:GL:GQ 1/1:30,24:20:-84.54,-6.02,-0.00:60.20 -chr1 92527 rs4618909 A G 1.05 PASS AC=1;AF=0.50;AN=2;DB;DP=102;Dels=0.00;HRun=1;HaplotypeScore=7.26;MQ=22.11;MQ0=40;OQ=1083.35;QD=10.62;SB=-10.00 GT:AD:DP:GL:GQ 0/1:55,47:51:-126.98,-15.36,-75.91:99 -chr1 92632 rs3872168 C A 251.56 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=17.40;MQ0=16;OQ=274.62;QD=10.98;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,25:9:-31.05,-2.71,-0.00:27.07 -chr1 92814 . C T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=170;Dels=0.00;HRun=1;HaplotypeScore=9.83;MQ=30.05;MQ0=21;OQ=659.75;QD=3.88;SB=-292.33 GT:AD:DP:GL:GQ 0/1:135,35:144:-112.64,-43.38,-415.54:99 -chr1 93070 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=100;Dels=0.00;HRun=1;HaplotypeScore=8.90;MQ=17.00;MQ0=65;OQ=190.64;QD=1.91;SB=-10.00 GT:AD:DP:GL:GQ 0/1:83,17:34:-32.59,-10.25,-92.04:99 -chr1 93104 rs62642109 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=24.91;MQ=20.20;MQ0=60;OQ=819.40;QD=6.83;SB=-0.98 GT:AD:DP:GL:GQ 0/1:72,48:57:-102.42,-17.19,-99.00:99 -chr1 93113 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=112;Dels=0.00;HRun=0;HaplotypeScore=17.60;MQ=21.02;MQ0=51;OQ=474.12;QD=4.23;SB=5.03 GT:AD:DP:GL:GQ 0/1:79,33:56:-67.57,-16.87,-129.01:99 -chr1 93181 . T C 7.86 PASS AC=1;AF=0.50;AN=2;DP=106;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=15.97;MQ0=67;OQ=759.85;QD=7.17;SB=20.10 GT:AD:DP:GL:GQ 0/1:53,53:35:-89.81,-10.54,-44.53:99 -chr1 93248 rs62639110 G A 30.22 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=8.07;MQ0=76;QD=0.36;SB=-10.00 GT:AD:DP:GL:GQ 0/1:62,22:6:-8.11,-1.81,-14.17:63.05 -chr1 93307 . G A 47.02 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=5.80;MQ0=48;QD=0.94;SB=-10.00 GT:AD:DP:GL:GQ 1/1:44,6:2:-8.11,-0.60,-0.00:6.02 -chr1 93757 . T C 30.28 LowQual AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=23.68;MQ0=1;QD=10.09;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,2:2:-6.44,-0.60,-0.00:6.01 -chr1 93896 rs4287120 T C 0.17 PASS AC=2;AF=1.00;AN=2;DB;DP=174;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=4.84;MQ0=151;OQ=128.63;QD=0.74;SB=-81.37 GT:AD:DP:GL:GQ 1/1:41,133:5:-16.43,-1.51,-0.00:15.04 -chr1 93971 rs4492556 A G 12.01 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=7.18;MQ0=71;QD=0.15;SB=-31.93 GT:AD:DP:GL:GQ 0/1:47,34:7:-6.57,-2.11,-19.60:44.57 -chr1 94001 . G T 0.94 PASS AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=16.11;MQ0=45;OQ=194.11;QD=3.35;SB=-41.38 GT:AD:DP:GL:GQ 0/1:51,7:13:-26.61,-3.91,-21.51:99 -chr1 94049 rs4288537 T C 0.39 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=10.96;MQ=20.93;MQ0=24;OQ=438.79;QD=10.45;SB=-71.88 GT:AD:DP:GL:GQ 0/1:18,24:17:-52.28,-5.12,-8.24:31.18 -chr1 94088 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=1;HaplotypeScore=3.06;MQ=13.40;MQ0=57;OQ=79.42;QD=1.15;SB=-38.36 GT:AD:DP:GL:GQ 0/1:64,5:10:-14.24,-3.02,-19.96:99 -chr1 94312 . C A 18.04 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=10.70;MQ0=65;QD=0.24;SB=-10.00 GT:AD:DP:GL:GQ 0/1:72,2:9:-7.79,-2.71,-24.60:50.81 -chr1 98160 rs4109806 A C 199.96 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=17.46;MQ0=21;OQ=505.68;QD=12.97;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,39:15:-54.16,-4.52,-0.00:45.14 -chr1 98173 . T C 2.30 PASS AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=16.05;MQ0=20;OQ=109.74;QD=3.05;SB=-45.95 GT:AD:DP:GL:GQ 0/1:14,22:12:-17.87,-3.61,-27.89:99 -chr1 98191 rs4109805 A G 15.99 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=16.84;MQ0=14;QD=0.50;SB=5.05 GT:AD:DP:GL:GQ 0/1:28,4:15:-9.39,-4.52,-49.05:48.72 -chr1 98276 rs4457511 T G 0.08 PASS AC=1;AF=0.50;AN=2;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=9.15;MQ=5.64;MQ0=97;OQ=125.84;QD=1.20;SB=-67.98 GT:AD:DP:GL:GQ 0/1:81,24:6:-17.67,-1.81,-3.90:20.89 -chr1 99188 . T C 0.10 PASS AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=8.00;MQ0=82;OQ=57.15;QD=0.64;SB=-10.00 GT:AD:DP:GL:GQ 0/1:85,4:6:-10.81,-1.81,-11.97:89.99 -chr1 99237 . G A 48.25 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=4.41;MQ0=117;QD=0.40;SB=-10.00 GT:AD:DP:GL:GQ 1/1:114,6:2:-8.23,-0.60,-0.00:6.02 -chr1 99503 rs4126043 T A 232.13 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=24.79;MQ0=3;OQ=79.29;QD=11.33;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,7:3:-11.42,-0.90,-0.00:9.03 -chr1 110568 rs4117992 T C 36.28 LowQual AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=23.68;MQ0=1;QD=12.09;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,3:2:-7.04,-0.60,-0.00:6.02 -chr1 110846 . C T 29.97 PASS AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=21.24;MQ0=9;OQ=175.53;QD=12.54;SB=-93.11 GT:AD:DP:GL:GQ 1/1:6,8:5:-21.11,-1.51,-0.00:15.05 -chr1 110872 rs1851943 C T 61.13 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=26.59;MQ0=3;OQ=127.11;QD=18.16;SB=-91.11 GT:AD:DP:GL:GQ 1/1:0,7:4:-16.25,-1.20,-0.00:12.04 -chr1 117436 . G A 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=124;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=9.09;MQ0=104;OQ=195.33;QD=1.58;SB=-97.57 GT:AD:DP:GL:GQ 0/1:100,24:19:-28.54,-5.73,-40.13:99 -chr1 119192 . C G 13.29 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=6.87;MQ0=19;QD=0.58;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,8:1:-4.59,-0.30,-0.00:1.76 -chr1 125911 rs11531330 C T 87.12 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=18.40;MQ0=3;OQ=89.79;QD=11.22;SB=-10.00 GT:AD:DP:GL:GQ 1/1:4,3:3:-12.47,-0.90,-0.00:9.03 -chr1 217782 . A T 46.88 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=14.40;MQ0=4;QD=5.86;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,8:2:-8.10,-0.60,-0.00:6.02 -chr1 219536 rs6678242 A C 214.27 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=14.88;MQ0=9;OQ=112.38;QD=6.61;SB=-45.01 GT:AD:DP:GL:GQ 1/1:0,17:4:-14.77,-1.20,-0.00:12.04 -chr1 219731 . C T 12.21 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=20.96;MQ0=44;QD=0.17;SB=38.14 GT:AD:DP:GL:GQ 0/1:62,9:27:-12.61,-8.14,-82.06:44.77 -chr1 219921 rs12239119 T G 63.08 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=23.26;MQ0=4;OQ=606.74;QD=25.28;SB=-312.56 GT:AD:DP:GL:GQ 1/1:0,24:18:-64.26,-5.42,-0.01:54.16 -chr1 221068 rs10047119 T A 39.88 DPFilter;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=254;Dels=0.00;HRun=1;HaplotypeScore=6.12;MQ=8.79;MQ0=135;QD=0.16;SB=-10.00 GT:AD:DP:GL:GQ 1/1:167,87:2:-7.40,-0.60,-0.00:6.02 -chr1 221077 rs10047174 C A 38.69 DPFilter;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=271;Dels=0.00;HRun=0;HaplotypeScore=6.64;MQ=8.55;MQ0=150;QD=0.14;SB=-10.00 GT:AD:DP:GL:GQ 1/1:181,90:2:-7.28,-0.60,-0.00:6.02 -chr1 221092 rs10047175 C A 39.69 DPFilter;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=283;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=7.57;MQ0=174;QD=0.14;SB=-10.00 GT:AD:DP:GL:GQ 1/1:201,82:2:-7.38,-0.60,-0.00:6.02 -chr1 221109 rs10047121 T C 34.28 DPFilter;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=275;Dels=0.00;HRun=0;HaplotypeScore=3.23;MQ=7.06;MQ0=184;QD=0.12;SB=-10.00 GT:AD:DP:GL:GQ 1/1:197,78:2:-6.84,-0.60,-0.00:6.02 -chr1 221318 . T A 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=241;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=19.94;MQ0=85;OQ=462.52;QD=1.92;SB=39.55 GT:AD:DP:GL:GQ 0/1:212,29:108:-82.07,-32.53,-323.83:99 -chr1 221343 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=261;Dels=0.00;HRun=0;HaplotypeScore=2.12;MQ=22.79;MQ0=47;OQ=408.64;QD=1.57;SB=-215.29 GT:AD:DP:GL:GQ 0/1:222,38:157:-91.46,-47.31,-595.18:99 -chr1 221367 rs10047230 G A 0.14 PASS AC=1;AF=0.50;AN=2;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=11.19;MQ=25.20;MQ0=11;OQ=1571.46;QD=5.65;SB=-527.77 GT:AD:DP:GL:GQ 0/1:197,80:212:-224.34,-63.91,-509.11:99 -chr1 221389 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=260;Dels=0.00;HRun=1;HaplotypeScore=1.74;MQ=24.37;MQ0=22;OQ=840.34;QD=3.23;SB=-412.02 GT:AD:DP:GL:GQ 0/1:209,50:201:-147.86,-60.54,-597.88:99 -chr1 221420 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=210;Dels=0.00;HRun=1;HaplotypeScore=4.60;MQ=20.04;MQ0=77;OQ=83.18;QD=0.40;SB=26.98 GT:AD:DP:GL:GQ 0/1:192,14:117:-46.84,-35.24,-385.27:99 -chr1 222364 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=186;Dels=0.03;HRun=0;HaplotypeScore=32.96;MQ=22.76;MQ0=12;OQ=2072.95;QD=11.14;SB=59.21 GT:AD:DP:GL:GQ 0/1:70,111:137:-251.84,-41.26,-268.25:99 -chr1 222793 . C G 25.72 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=260;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=16.62;MQ0=87;QD=0.10;SB=81.54 GT:AD:DP:GL:GQ 0/1:230,30:110:-38.99,-33.14,-447.79:58.55 -chr1 223336 . C G 28.20 PASS AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=35.25;MQ0=2;OQ=1925.92;QD=21.40;SB=-854.31 GT:AD:DP:GL:GQ 0/1:39,51:87:-222.09,-26.21,-160.96:99 -chr1 224095 rs8179512 G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=229;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=15.51;MQ0=125;OQ=91.58;QD=0.40;SB=-45.96 GT:AD:DP:GL:GQ 0/1:203,26:89:-39.28,-26.84,-255.40:99 -chr1 224171 rs7195389 A G 40.71 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=269;Dels=0.00;HRun=0;HaplotypeScore=47.18;MQ=22.11;MQ0=18;QD=0.15;SB=122.50 GT:AD:DP:GL:GQ 0/1:232,36:234:-77.87,-70.51,-842.48:73.55 -chr1 224176 rs56055731 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=276;Dels=0.00;HRun=1;HaplotypeScore=39.67;MQ=21.41;MQ0=32;OQ=545.76;QD=1.98;SB=-248.71 GT:AD:DP:GL:GQ 0/1:242,34:226:-125.93,-68.07,-709.89:99 -chr1 224241 rs62053733 A G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=20.29;MQ=17.49;MQ0=74;OQ=1752.30;QD=8.11;SB=-714.08 GT:AD:DP:GL:GQ 0/1:103,113:104:-209.87,-31.36,-152.51:99 -chr1 224344 rs8179403 T A 166.23 PASS AC=1;AF=0.50;AN=2;DB;DP=163;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=23.92;MQ0=45;OQ=2824.26;QD=17.33;SB=-725.16 GT:AD:DP:GL:GQ 0/1:38,125:108:-318.26,-32.55,-66.31:99 -chr1 224419 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=187;Dels=0.00;HRun=1;HaplotypeScore=18.87;MQ=14.35;MQ0=100;OQ=127.03;QD=0.68;SB=8.05 GT:AD:DP:GL:GQ 0/1:161,26:49:-30.75,-14.76,-153.48:99 -chr1 224472 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=261;Dels=0.00;HRun=1;HaplotypeScore=6.53;MQ=15.44;MQ0=125;OQ=992.61;QD=3.80;SB=-39.67 GT:AD:DP:GL:GQ 0/1:177,84:84:-127.86,-25.32,-192.69:99 -chr1 224623 rs7548182 A T 1.19 PASS AC=1;AF=0.50;AN=2;DB;DP=107;Dels=0.00;HRun=3;HaplotypeScore=1.37;MQ=26.54;MQ0=23;OQ=863.08;QD=8.07;SB=50.19 GT:AD:DP:GL:GQ 0/1:39,68:64:-108.87,-19.28,-138.61:99 -chr1 225707 rs6603780 C G 0.19 PASS AC=1;AF=0.50;AN=2;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=6.28;MQ=15.73;MQ0=150;OQ=1742.87;QD=6.27;SB=-566.38 GT:AD:DP:GL:GQ 0/1:147,131:57:-194.74,-17.17,-58.86:99 -chr1 225839 rs6422503 C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=34.58;MQ0=26;OQ=4599.62;QD=21.39;SB=-1688.57 GT:AD:DP:GL:GQ 0/1:70,145:162:-458.96,-48.79,-124.49:99 -chr1 226216 . T C 24.03 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=181;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=9.23;MQ0=93;QD=0.13;SB=-10.00 GT:AD:DP:GL:GQ 0/1:162,19:7:-7.79,-2.11,-21.54:56.85 -chr1 227048 . C A 43.64 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=155;Dels=0.00;HRun=1;HaplotypeScore=2.13;MQ=9.30;MQ0=121;QD=0.28;SB=-44.79 GT:AD:DP:GL:GQ 0/1:134,21:22:-14.27,-6.63,-62.25:76.48 -chr1 227333 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=141;Dels=0.00;HRun=0;HaplotypeScore=5.51;MQ=14.65;MQ0=59;OQ=58.63;QD=0.42;SB=-10.00 GT:AD:DP:GL:GQ 0/1:125,16:25:-16.68,-7.54,-70.62:91.47 -chr1 227353 . C A 20.49 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=140;Dels=0.00;HRun=1;HaplotypeScore=4.94;MQ=14.92;MQ0=62;QD=0.15;SB=-10.00 GT:AD:DP:GL:GQ 0/1:122,18:29:-14.07,-8.74,-90.83:53.29 -chr1 227461 rs28618397 A G 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=6.94;MQ=8.17;MQ0=115;OQ=63.90;QD=0.44;SB=-10.00 GT:AD:DP:GL:GQ 0/1:131,13:8:-12.09,-2.41,-14.97:96.73 -chr1 227626 . G A 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=182;Dels=0.00;HRun=0;HaplotypeScore=4.92;MQ=20.49;MQ0=18;OQ=315.55;QD=1.73;SB=-168.42 GT:AD:DP:GL:GQ 0/1:163,19:138:-76.40,-41.57,-437.40:99 -chr1 227735 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=0;HaplotypeScore=14.30;MQ=17.08;MQ0=35;OQ=66.90;QD=0.75;SB=20.77 GT:AD:DP:GL:GQ 0/1:78,11:41:-22.33,-12.35,-159.24:99 -chr1 230298 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=129;Dels=0.00;HRun=1;HaplotypeScore=4.58;MQ=24.72;MQ0=17;OQ=319.24;QD=2.47;SB=-97.27 GT:AD:DP:GL:GQ 0/1:109,19:104:-66.59,-31.38,-356.71:99 -chr1 230890 . G A 0.28 PASS AC=1;AF=0.50;AN=2;DP=120;Dels=0.00;HRun=0;HaplotypeScore=4.05;MQ=28.42;MQ0=10;OQ=452.11;QD=3.77;SB=-186.08 GT:AD:DP:GL:GQ 0/1:99,21:95:-77.11,-28.62,-272.62:99 -chr1 231027 rs1917217 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=16;HaplotypeScore=20.40;MQ=32.62;MQ0=10;OQ=363.52;QD=5.05;SB=32.11 GT:AD:DP:GL:GQ 0/1:47,24:50:-54.70,-15.07,-118.26:99 -chr1 231044 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=16;HaplotypeScore=28.71;MQ=27.06;MQ0=9;OQ=128.09;QD=1.69;SB=39.29 GT:AD:DP:GL:GQ 0/1:63,12:57:-36.63,-20.54,-166.03:99 -chr1 231045 . A T 16.10 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=0;HaplotypeScore=26.04;MQ=26.31;MQ0=9;QD=0.22;SB=44.16 GT:AD:DP:GL:GQ 0/1:63,8:54:-21.15,-16.27,-182.36:48.82 -chr1 231183 . A G 0.09 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=8.45;MQ=28.02;MQ0=10;OQ=325.16;QD=6.25;SB=-110.63 GT:AD:DP:GL:GQ 0/1:19,32:27:-43.95,-8.15,-48.50:99 -chr1 231232 rs11490246 C T 142.56 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=27.55;MQ0=9;OQ=1010.69;QD=16.84;SB=-258.84 GT:AD:DP:GL:GQ 1/1:0,59:26:-104.66,-7.83,-0.01:78.25 -chr1 234887 . C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=210;Dels=0.00;HRun=0;HaplotypeScore=14.30;MQ=23.11;MQ0=12;OQ=591.52;QD=2.82;SB=-248.32 GT:AD:DP:GL:GQ 0/1:173,36:184:-117.86,-55.42,-542.00:99 -chr1 235002 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=3;HaplotypeScore=1.45;MQ=7.75;MQ0=92;OQ=65.10;QD=0.63;SB=-6.99 GT:AD:DP:GL:GQ 0/1:88,15:7:-11.90,-2.11,-15.26:97.93 -chr1 235268 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=1;HaplotypeScore=31.21;MQ=26.04;MQ0=17;OQ=96.26;QD=2.53;SB=-57.31 GT:AD:DP:GL:GQ 0/1:24,12:15:-17.43,-4.52,-39.23:99 -chr1 235318 . C G 0.88 PASS AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=2;HaplotypeScore=0.73;MQ=31.66;MQ0=1;OQ=172.25;QD=9.57;SB=-27.84 GT:AD:DP:GL:GQ 0/1:12,6:17:-25.63,-5.12,-44.90:99 -chr1 237291 rs62639107 G T 22.08 PASS AC=1;AF=0.50;AN=2;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=12.32;MQ0=83;OQ=830.85;QD=6.59;SB=-342.75 GT:AD:DP:GL:GQ 0/1:51,75:34:-96.61,-10.24,-28.48:99 -chr1 237573 . T C 21.25 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=174;Dels=0.00;HRun=0;HaplotypeScore=8.41;MQ=14.44;MQ0=98;QD=0.12;SB=17.09 GT:AD:DP:GL:GQ 0/1:155,19:37:-16.55,-11.15,-125.38:54.05 -chr1 238151 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=9.86;MQ0=83;OQ=59.88;QD=0.63;SB=-10.00 GT:AD:DP:GL:GQ 0/1:91,4:10:-12.29,-3.01,-24.61:92.72 -chr1 238167 rs4109800 G C 1.40 PASS AC=1;AF=0.50;AN=2;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=9.69;MQ0=81;OQ=122.76;QD=1.31;SB=-10.00 GT:AD:DP:GL:GQ 0/1:83,11:9:-18.27,-2.71,-21.24:99 -chr1 238254 . G A 14.34 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=1;HaplotypeScore=1.20;MQ=10.94;MQ0=73;QD=0.13;SB=-10.00 GT:AD:DP:GL:GQ 0/1:101,9:10:-7.71,-3.01,-28.55:47.01 -chr1 242992 rs4109808 G C 0.33 PASS AC=1;AF=0.50;AN=2;DB;DP=205;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=17.96;MQ0=77;OQ=316.33;QD=1.54;SB=11.07 GT:AD:DP:GL:GQ 0/1:143,62:81:-59.32,-24.40,-284.11:99 -chr1 244543 rs62639119 A G 39.09 PASS AC=1;AF=0.50;AN=2;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=13.13;MQ0=71;OQ=645.60;QD=5.98;SB=-100.72 GT:AD:DP:GL:GQ 0/1:56,52:34:-78.09,-10.25,-42.39:99 -chr1 244959 rs4096710 C T 45.82 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=3.93;MQ=13.07;MQ0=59;QD=0.54;SB=-26.62 GT:AD:DP:GL:GQ 0/1:74,11:15:-12.39,-4.52,-39.32:78.66 -chr1 245030 rs4247528 T G 34.76 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=14.80;MQ0=42;QD=0.49;SB=8.04 GT:AD:DP:GL:GQ 0/1:62,9:14:-10.98,-4.22,-38.66:67.59 -chr1 245496 . A G 44.84 LowQual AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=18.49;MQ0=2;QD=7.47;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,5:2:-7.89,-0.60,-0.00:6.02 -chr1 314685 . A T 13.26 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;HRun=1;HaplotypeScore=1.75;MQ=14.76;MQ0=13;OQ=314.43;QD=11.65;SB=-42.39 GT:AD:DP:GL:GQ 1/1:12,15:9:-35.03,-2.71,-0.00:27.09 -chr1 314938 . G C 1.97 PASS AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=12.45;MQ0=16;OQ=80.86;QD=3.23;SB=-10.00 GT:AD:DP:GL:GQ 1/1:16,9:3:-11.58,-0.91,-0.00:9.03 -chr1 314990 . T C 42.83 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=12.15;MQ0=12;QD=2.14;SB=-10.00 GT:AD:DP:GL:GQ 1/1:10,10:2:-7.69,-0.60,-0.00:6.02 -chr1 354114 rs3905534 G T 4.20 PASS AC=1;AF=0.50;AN=2;DB;DP=18;Dels=0.00;HRun=2;HaplotypeScore=1.96;MQ=17.14;MQ0=8;OQ=149.39;QD=8.30;SB=-10.00 GT:AD:DP:GL:GQ 0/1:10,8:10:-21.23,-3.01,-14.53:99 -chr1 374336 rs4959767 C G 48.85 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=9.01;MQ=5.04;MQ0=75;QD=0.57;SB=-10.00 GT:AD:DP:GL:GQ 1/1:78,7:2:-8.29,-0.60,-0.00:6.02 -chr1 374388 rs4120938 C T 0.16 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=7.85;MQ=3.88;MQ0=74;OQ=50.25;QD=0.61;SB=-10.00 GT:AD:DP:GL:GQ 1/1:76,7:2:-8.43,-0.60,-0.00:6.02 -chr1 374916 . A C 6.13 PASS AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=19.92;MQ0=3;OQ=209.71;QD=17.48;SB=-40.56 GT:AD:DP:GL:GQ 1/1:2,10:8:-24.56,-2.41,-0.01:24.03 -chr1 391491 . T G 33.28 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=5.85;MQ0=67;QD=0.45;SB=-10.00 GT:AD:DP:GL:GQ 0/1:70,4:3:-7.51,-0.90,-3.44:25.36 -chr1 394166 . C T 0.46 PASS AC=1;AF=0.50;AN=2;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=7.89;MQ0=95;OQ=178.49;QD=1.75;SB=-10.00 GT:AD:DP:GL:GQ 0/1:96,6:7:-23.23,-2.11,-3.57:14.61 -chr1 394272 . T G 16.31 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=17.93;MQ0=35;OQ=484.03;QD=7.81;SB=-10.00 GT:AD:DP:GL:GQ 0/1:39,23:22:-58.31,-6.63,-19.38:99 -chr1 394291 rs12121306 C T 153.03 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=16.59;MQ0=30;OQ=364.11;QD=7.75;SB=-10.00 GT:AD:DP:GL:GQ 0/1:31,16:14:-43.91,-4.22,-11.01:67.92 -chr1 394310 . C T 0.18 PASS AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=12.47;MQ0=36;OQ=147.86;QD=3.21;SB=-10.00 GT:AD:DP:GL:GQ 0/1:41,5:8:-20.48,-2.41,-10.61:81.97 -chr1 394537 . G A 2.58 PASS AC=1;AF=0.50;AN=2;DP=105;Dels=0.00;HRun=0;HaplotypeScore=6.78;MQ=23.70;MQ0=52;OQ=1238.38;QD=11.79;SB=-421.21 GT:AD:DP:GL:GQ 0/1:65,40:50:-142.19,-15.07,-44.99:99 -chr1 394765 . A G 0.18 PASS AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=7.43;MQ0=57;OQ=65.19;QD=1.07;SB=-10.00 GT:AD:DP:GL:GQ 0/1:58,3:4:-11.01,-1.20,-3.46:22.51 -chr1 394834 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=12.79;MQ0=47;OQ=202.79;QD=3.56;SB=-10.00 GT:AD:DP:GL:GQ 0/1:49,8:10:-26.57,-3.01,-12.50:94.91 -chr1 394837 . A G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=7.99;MQ=12.80;MQ0=51;OQ=216.52;QD=3.49;SB=-10.00 GT:AD:DP:GL:GQ 0/1:48,14:11:-28.25,-3.31,-11.97:86.56 -chr1 404035 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=0;HaplotypeScore=20.45;MQ=17.63;MQ0=51;OQ=155.60;QD=2.22;SB=-84.79 GT:AD:DP:GL:GQ 0/1:62,8:17:-23.97,-5.12,-38.73:99 -chr1 511466 rs3902909 G A 114.88 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=25.37;MQ0=1;OQ=299.83;QD=6.00;SB=-10.00 GT:AD:DP:GL:GQ 0/1:35,15:40:-45.34,-12.07,-85.80:99 -chr1 513688 rs61767343 C T 0.33 PASS AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=5.41;MQ=21.22;MQ0=15;OQ=264.79;QD=2.88;SB=32.01 GT:AD:DP:GL:GQ 0/1:78,14:66:-49.68,-19.91,-161.21:99 -chr1 522943 . G A 31.72 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=14;HaplotypeScore=31.16;MQ=21.11;MQ0=30;QD=0.33;SB=74.23 GT:AD:DP:GL:GQ 0/1:84,11:55:-23.03,-16.58,-166.54:64.56 -chr1 523155 . C T 20.46 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=7.86;MQ=11.23;MQ0=37;QD=0.34;SB=-10.00 GT:AD:DP:GL:GQ 0/1:56,5:10:-8.34,-3.02,-25.17:53.26 -chr1 523163 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=7.11;MQ=11.49;MQ0=30;OQ=99.30;QD=1.99;SB=-10.00 GT:AD:DP:GL:GQ 0/1:37,13:9:-15.92,-2.71,-17.34:99 -chr1 523812 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=9.50;MQ=11.52;MQ0=31;OQ=145.45;QD=2.05;SB=-10.00 GT:AD:DP:GL:GQ 0/1:61,10:10:-20.85,-3.02,-13.58:99 -chr1 523821 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=0;HaplotypeScore=9.21;MQ=15.64;MQ0=25;OQ=121.38;QD=1.84;SB=-10.00 GT:AD:DP:GL:GQ 0/1:57,9:12:-19.04,-3.62,-21.78:99 -chr1 523868 . G A 13.34 PASS AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=24.79;MQ0=4;OQ=177.69;QD=5.08;SB=-10.00 GT:AD:DP:GL:GQ 0/1:21,14:15:-25.58,-4.53,-24.67:99 -chr1 524029 . T G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=26.24;MQ0=29;OQ=72.18;QD=0.99;SB=-17.85 GT:AD:DP:GL:GQ 0/1:58,15:34:-20.75,-10.24,-100.17:99 -chr1 524055 rs6680723 C T 0.11 PASS AC=1;AF=0.50;AN=2;DB;DP=99;Dels=0.00;HRun=2;HaplotypeScore=11.94;MQ=30.97;MQ0=23;OQ=525.09;QD=5.30;SB=-269.67 GT:AD:DP:GL:GQ 0/1:68,31:65:-75.37,-19.58,-166.45:99 -chr1 524061 rs6680725 C T 44.53 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=14.45;MQ=31.89;MQ0=22;QD=0.42;SB=98.20 GT:AD:DP:GL:GQ 0/1:92,13:70:-28.85,-21.11,-204.21:77.37 -chr1 524105 rs2792879 C T 49.58 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=35.66;MQ0=5;QD=0.40;SB=82.58 GT:AD:DP:GL:GQ 0/1:106,18:95:-36.89,-28.65,-274.71:82.42 -chr1 524187 . G T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=48;Dels=0.02;HRun=0;HaplotypeScore=13.69;MQ=38.72;MQ0=2;OQ=392.49;QD=8.18;SB=-133.62 GT:AD:DP:GL:GQ 0/1:25,22:25:-49.77,-7.23,-31.06:99 -chr1 524410 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=0;HaplotypeScore=27.66;MQ=40.25;MQ0=9;OQ=582.52;QD=5.34;SB=-205.05 GT:AD:DP:GL:GQ 0/1:82,27:83:-86.53,-25.00,-225.34:99 -chr1 524592 rs61767348 C T 0.12 PASS AC=1;AF=0.50;AN=2;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=35.17;MQ0=0;OQ=230.33;QD=1.84;SB=-71.36 GT:AD:DP:GL:GQ 0/1:109,16:125:-63.96,-37.65,-391.79:99 -chr1 524704 . C G 0.30 PASS AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=15.62;MQ0=42;OQ=247.71;QD=3.26;SB=-10.00 GT:AD:DP:GL:GQ 0/1:63,13:16:-32.88,-4.82,-37.64:99 -chr1 525671 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=125;Dels=0.00;HRun=0;HaplotypeScore=16.72;MQ=18.80;MQ0=44;OQ=189.70;QD=1.52;SB=-93.64 GT:AD:DP:GL:GQ 0/1:113,12:40:-34.30,-12.05,-118.97:99 -chr1 525779 . A G 0.63 PASS AC=1;AF=0.50;AN=2;DP=84;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=22.14;MQ0=11;OQ=348.30;QD=4.15;SB=-47.83 GT:AD:DP:GL:GQ 0/1:66,18:49:-52.88,-14.76,-137.92:99 -chr1 525958 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=99;Dels=0.00;HRun=0;HaplotypeScore=25.63;MQ=21.45;MQ0=28;OQ=60.59;QD=0.61;SB=-44.97 GT:AD:DP:GL:GQ 0/1:86,13:50:-24.43,-15.08,-139.15:93.42 -chr1 526007 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=141;Dels=0.00;HRun=0;HaplotypeScore=23.90;MQ=27.74;MQ0=20;OQ=72.77;QD=0.52;SB=-61.14 GT:AD:DP:GL:GQ 0/1:119,22:81:-34.97,-24.41,-279.63:99 -chr1 526679 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=97;Dels=0.00;HRun=0;HaplotypeScore=6.10;MQ=15.23;MQ0=50;OQ=159.06;QD=1.64;SB=-10.00 GT:AD:DP:GL:GQ 0/1:72,25:19:-24.93,-5.74,-37.85:99 -chr1 526910 . C T 33.12 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=107;Dels=0.00;HRun=0;HaplotypeScore=15.09;MQ=12.21;MQ0=78;QD=0.31;SB=8.05 GT:AD:DP:GL:GQ 0/1:95,11:28:-15.03,-8.43,-86.21:65.95 -chr1 527066 rs1109924 C T 18.08 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=24.80;MQ0=20;QD=0.22;SB=56.20 GT:AD:DP:GL:GQ 0/1:74,8:55:-21.66,-16.57,-168.07:50.84 -chr1 527350 rs1105044 C T 0.77 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=5.45;MQ=30.46;MQ0=9;OQ=109.38;QD=3.91;SB=5.03 GT:AD:DP:GL:GQ 0/1:19,9:14:-18.45,-4.22,-27.73:99 -chr1 527399 . C G 0.15 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=4.45;MQ=22.48;MQ0=26;OQ=195.21;QD=3.42;SB=2.03 GT:AD:DP:GL:GQ 0/1:49,8:23:-29.74,-6.93,-66.80:99 -chr1 527400 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=1;HaplotypeScore=5.09;MQ=22.50;MQ0=26;OQ=149.94;QD=2.50;SB=3.82 GT:AD:DP:GL:GQ 0/1:51,8:23:-28.15,-9.87,-58.83:99 -chr1 527445 . C G 0.06 PASS AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.13;MQ=15.27;MQ0=33;OQ=120.74;QD=2.05;SB=-43.89 GT:AD:DP:GL:GQ 0/1:47,12:21:-21.68,-6.33,-71.74:99 -chr1 530476 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=150;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=20.30;MQ0=34;OQ=101.99;QD=0.68;SB=16.46 GT:AD:DP:GL:GQ 0/1:135,15:110:-46.63,-33.14,-338.24:99 -chr1 534258 rs61769278 G A 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=9.91;MQ0=64;OQ=75.11;QD=0.62;SB=-10.00 GT:AD:DP:GL:GQ 0/1:81,40:6:-12.60,-1.81,-10.89:90.82 -chr1 534650 rs61769279 G C 10.23 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=22.82;MQ0=11;OQ=171.47;QD=4.76;SB=-10.00 GT:AD:DP:GL:GQ 0/1:26,10:21:-26.76,-6.33,-62.71:99 -chr1 536560 rs12025928 A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=3;HaplotypeScore=20.90;MQ=24.04;MQ0=6;OQ=206.19;QD=3.49;SB=8.06 GT:AD:DP:GL:GQ 0/1:26,33:37:-35.06,-11.16,-99.03:99 -chr1 536665 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=117;Dels=0.00;HRun=0;HaplotypeScore=53.76;MQ=25.56;MQ0=32;OQ=200.39;QD=1.71;SB=-106.47 GT:AD:DP:GL:GQ 0/1:92,25:66:-43.22,-19.90,-241.56:99 -chr1 536668 rs61769283 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=116;Dels=0.00;HRun=0;HaplotypeScore=52.49;MQ=25.44;MQ0=31;OQ=176.14;QD=1.52;SB=-101.57 GT:AD:DP:GL:GQ 0/1:89,25:62:-39.59,-18.70,-187.95:99 -chr1 536745 rs9438485 T C 0.12 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=10.16;MQ=22.38;MQ0=21;OQ=208.92;QD=2.37;SB=-117.20 GT:AD:DP:GL:GQ 0/1:59,28:39:-35.93,-11.75,-108.78:99 -chr1 536815 rs9438487 T C 0.71 PASS AC=1;AF=0.50;AN=2;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=5.65;MQ=26.07;MQ0=22;OQ=487.78;QD=3.81;SB=-195.14 GT:AD:DP:GL:GQ 0/1:76,52:82:-76.77,-24.71,-234.35:99 -chr1 536828 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=134;Dels=0.00;HRun=0;HaplotypeScore=2.07;MQ=25.55;MQ0=22;OQ=75.76;QD=0.57;SB=28.89 GT:AD:DP:GL:GQ 0/1:122,12:82:-35.59,-24.73,-235.80:99 -chr1 537100 . G A 12.85 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=13.16;MQ0=46;QD=0.12;SB=-7.00 GT:AD:DP:GL:GQ 0/1:81,22:25:-12.08,-7.53,-73.93:45.46 -chr1 537113 . C T 31 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=106;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=12.14;MQ0=51;QD=0.29;SB=-6.99 GT:AD:DP:GL:GQ 0/1:84,22:18:-11.81,-5.42,-56.12:63.83 -chr1 537596 . G A 46.75 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=170;Dels=0.00;HRun=0;HaplotypeScore=23.62;MQ=12.88;MQ0=95;QD=0.28;SB=83.26 GT:AD:DP:GL:GQ 0/1:155,15:50:-23.03,-15.07,-148.87:79.59 -chr1 537643 rs9438495 T C 0.24 PASS AC=1;AF=0.50;AN=2;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=12.92;MQ0=56;OQ=64.59;QD=0.65;SB=29.12 GT:AD:DP:GL:GQ 0/1:83,15:29:-18.49,-8.74,-88.70:97.43 -chr1 540378 . T C 1.66 PASS AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=10.44;MQ0=61;OQ=250.82;QD=2.82;SB=-10.00 GT:AD:DP:GL:GQ 0/1:69,20:17:-33.49,-5.12,-26.69:99 -chr1 543605 . G A 0.71 PASS AC=1;AF=0.50;AN=2;DP=122;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=19.26;MQ0=44;OQ=534.14;QD=4.38;SB=-165.55 GT:AD:DP:GL:GQ 0/1:95,27:72:-78.41,-21.71,-168.45:99 -chr1 544671 rs4120954 G A 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=119;Dels=0.00;HRun=1;HaplotypeScore=17.61;MQ=20.21;MQ0=40;OQ=184.77;QD=1.55;SB=-112.49 GT:AD:DP:GL:GQ 0/1:103,16:61:-40.15,-18.39,-172.29:99 -chr1 549231 . A G 0.07 PASS AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=20.37;MQ0=37;OQ=179.14;QD=2.21;SB=30.55 GT:AD:DP:GL:GQ 0/1:67,14:40:-33.25,-12.05,-121.81:99 -chr1 549235 . C G 0.42 PASS AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=0;HaplotypeScore=3.80;MQ=21.34;MQ0=35;OQ=329.96;QD=4.12;SB=-9.65 GT:AD:DP:GL:GQ 0/1:65,15:43:-49.24,-12.96,-142.49:99 -chr1 549756 . G A 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=1;HaplotypeScore=4.27;MQ=22.29;MQ0=22;OQ=255.07;QD=4.40;SB=-111.11 GT:AD:DP:GL:GQ 0/1:45,13:33:-38.73,-9.94,-83.62:99 -chr1 551019 . T G 0.10 PASS AC=1;AF=0.50;AN=2;DP=79;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=26.98;MQ0=20;OQ=197.80;QD=2.50;SB=4.26 GT:AD:DP:GL:GQ 0/1:67,12:53:-39.03,-15.96,-159.29:99 -chr1 551526 rs3908981 C A 0.27 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=9.51;MQ0=72;OQ=83.63;QD=0.93;SB=-10.00 GT:AD:DP:GL:GQ 0/1:72,18:8:-14.06,-2.41,-15.23:99 -chr1 552065 . T G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=19.90;MQ0=42;OQ=77.24;QD=1.04;SB=-15.93 GT:AD:DP:GL:GQ 0/1:68,6:22:-17.64,-6.63,-61.21:99 -chr1 553226 . C T 0.19 PASS AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=3;HaplotypeScore=1.62;MQ=24.97;MQ0=44;OQ=605.74;QD=6.51;SB=-203.18 GT:AD:DP:GL:GQ 0/1:67,26:42:-76.51,-12.65,-84.24:99 -chr1 553488 . T C 0.79 PASS AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=309.81;QD=34.42;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,9:9:-34.57,-2.71,-0.00:27.09 -chr1 555282 rs55668158 C G 1.90 PASS AC=1;AF=0.50;AN=2;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=7.94;MQ=40.12;MQ0=17;OQ=1152.38;QD=10.38;SB=-595.15 GT:AD:DP:GL:GQ 0/1:77,33:92:-146.24,-27.72,-249.40:99 -chr1 555454 rs7416152 C T 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=6.80;MQ=46.34;MQ0=10;OQ=133.21;QD=0.99;SB=31.52 GT:AD:DP:GL:GQ 0/1:100,33:107:-48.84,-32.23,-339.95:99 -chr1 555839 rs9283151 C T 3.01 PASS AC=1;AF=0.50;AN=2;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=45.60;MQ0=9;OQ=549.78;QD=4.07;SB=-291.62 GT:AD:DP:GL:GQ 0/1:100,35:123:-95.32,-37.06,-353.94:99 -chr1 555911 rs6421780 G A 0.18 PASS AC=1;AF=0.50;AN=2;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=11.39;MQ=39.59;MQ0=14;OQ=584.19;QD=4.56;SB=-299.10 GT:AD:DP:GL:GQ 0/1:90,32:104:-93.03,-31.32,-293.74:99 -chr1 557751 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=2961;Dels=0.00;HRun=2;HaplotypeScore=55.38;MQ=12.90;MQ0=2051;OQ=15633.32;QD=5.28;SB=59.42 GT:AD:DP:GL:GQ 0/1:109,2851:490:-1562.33,-147.66,-305.00:99 -chr1 558077 . C T 9.05 PASS AC=1;AF=0.50;AN=2;DP=124;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=45.73;MQ0=8;OQ=1080.95;QD=8.72;SB=-436.58 GT:AD:DP:GL:GQ 0/1:87,37:109:-144.24,-32.87,-230.68:99 -chr1 559290 rs55665739 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=606;Dels=0.00;HRun=3;HaplotypeScore=17.31;MQ=15.96;MQ0=469;OQ=1033.33;QD=1.71;SB=-487.92 GT:AD:DP:GL:GQ 0/1:561,45:103:-137.67,-31.06,-222.34:99 -chr1 559575 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=286;Dels=0.00;HRun=0;HaplotypeScore=67.59;MQ=29.40;MQ0=143;OQ=1081.89;QD=3.78;SB=-504.88 GT:AD:DP:GL:GQ 0/1:248,38:131:-150.96,-39.49,-301.87:99 -chr1 560501 rs3912527 T C 0.59 PASS AC=1;AF=0.50;AN=2;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=42.53;MQ0=1;OQ=256.32;QD=2.44;SB=101.36 GT:AD:DP:GL:GQ 0/1:81,24:98:-58.45,-29.53,-320.39:99 -chr1 561486 rs4951848 T G 0.07 PASS AC=1;AF=0.50;AN=2;DB;DP=125;Dels=0.00;HRun=3;HaplotypeScore=1.10;MQ=14.41;MQ0=91;OQ=408.98;QD=3.27;SB=-10.00 GT:AD:DP:GL:GQ 0/1:75,49:28:-52.62,-8.43,-47.04:99 -chr1 561492 rs4951847 T C 0.48 PASS AC=1;AF=0.50;AN=2;DB;DP=117;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=12.50;MQ0=93;OQ=266.80;QD=2.28;SB=-10.00 GT:AD:DP:GL:GQ 0/1:73,44:19:-35.69,-5.72,-37.10:99 -chr1 561756 rs4092521 C A 0.10 PASS AC=1;AF=0.50;AN=2;DB;DP=234;Dels=0.00;HRun=0;HaplotypeScore=3.92;MQ=28.08;MQ0=93;OQ=133.54;QD=0.57;SB=-15.37 GT:AD:DP:GL:GQ 0/1:211,23:136:-57.61,-40.97,-421.13:99 -chr1 574427 rs4317776 G T 26.75 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=197;Dels=0.00;HRun=9;HaplotypeScore=3.53;MQ=6.95;MQ0=179;QD=0.14;SB=-30.89 GT:AD:DP:GL:GQ 0/1:180,17:17:-11.08,-5.12,-48.02:59.57 -chr1 575363 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=108;Dels=0.00;HRun=0;HaplotypeScore=13.77;MQ=11.89;MQ0=66;OQ=93.79;QD=0.87;SB=-10.00 GT:AD:DP:GL:GQ 0/1:97,11:18:-18.09,-5.43,-51.57:99 -chr1 575571 . A G 44.95 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=12.50;MQ0=35;QD=0.49;SB=-7.00 GT:AD:DP:GL:GQ 0/1:88,3:9:-10.49,-2.71,-23.69:77.78 -chr1 575656 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=119;Dels=0.00;HRun=0;HaplotypeScore=17.86;MQ=21.34;MQ0=33;OQ=102.29;QD=0.86;SB=-15.11 GT:AD:DP:GL:GQ 0/1:101,18:60:-31.59,-18.08,-183.63:99 -chr1 577203 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=2;HaplotypeScore=18.06;MQ=18.60;MQ0=50;OQ=68.56;QD=0.90;SB=-15.46 GT:AD:DP:GL:GQ 0/1:71,5:16:-14.96,-4.82,-42.28:99 -chr1 578945 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=108;Dels=0.01;HRun=3;HaplotypeScore=26.60;MQ=35.12;MQ0=11;OQ=422.46;QD=3.91;SB=-212.09 GT:AD:DP:GL:GQ 0/1:86,21:88:-72.04,-26.51,-252.61:99 -chr1 581862 rs428603 C T 12.84 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=16.17;MQ0=62;QD=0.11;SB=5.04 GT:AD:DP:GL:GQ 0/1:112,5:25:-12.07,-7.53,-76.64:45.44 -chr1 582131 rs2808300 G T 0.12 PASS AC=1;AF=0.50;AN=2;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=20.19;MQ0=60;OQ=103.03;QD=0.77;SB=74.25 GT:AD:DP:GL:GQ 0/1:113,20:71:-34.97,-21.38,-223.52:99 -chr1 590341 . G A 2.32 PASS AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=0;HaplotypeScore=4.02;MQ=31.66;MQ0=1;OQ=697.92;QD=5.91;SB=-148.83 GT:AD:DP:GL:GQ 0/1:88,30:101:-103.52,-30.45,-248.69:99 -chr1 591004 . C T 96.57 PASS AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=34.15;MQ0=0;OQ=697.04;QD=7.58;SB=-276.23 GT:AD:DP:GL:GQ 0/1:66,26:89:-99.83,-26.84,-204.19:99 -chr1 591498 rs2531322 C A 0.53 PASS AC=1;AF=0.50;AN=2;DB;DP=129;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=32.80;MQ0=0;OQ=356.51;QD=2.76;SB=131.06 GT:AD:DP:GL:GQ 0/1:108,21:125:-76.61,-37.67,-331.80:99 -chr1 592316 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=0;HaplotypeScore=5.89;MQ=8.09;MQ0=42;OQ=58.17;QD=0.88;SB=-10.00 GT:AD:DP:GL:GQ 0/1:52,12:5:-10.61,-1.51,-6.31:48.04 -chr1 592508 rs2686868 C T 15.96 PASS AC=1;AF=0.50;AN=2;DB;DP=119;Dels=0.00;HRun=1;HaplotypeScore=3.16;MQ=34.52;MQ0=0;OQ=1500.76;QD=12.61;SB=-645.23 GT:AD:DP:GL:GQ 0/1:71,48:113:-187.40,-34.04,-240.50:99 -chr1 616184 rs2808330 A G 13.87 PASS AC=1;AF=0.50;AN=2;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=40.61;MQ0=5;OQ=348.18;QD=3.38;SB=86.31 GT:AD:DP:GL:GQ 0/1:75,28:95:-66.73,-28.63,-299.16:99 -chr1 625884 rs3857304 G A 2.14 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=6.38;MQ0=48;OQ=115.97;QD=2.23;SB=-51.67 GT:AD:DP:GL:GQ 1/1:47,5:4:-15.13,-1.21,-0.00:12.03 -chr1 625907 rs4030160 G A 213.52 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=11.50;MQ0=27;OQ=320.38;QD=8.90;SB=-93.34 GT:AD:DP:GL:GQ 1/1:25,11:9:-35.62,-2.71,-0.00:27.09 -chr1 625979 rs3871845 G C 249.04 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=11.96;MQ0=27;OQ=358.10;QD=9.68;SB=-129.40 GT:AD:DP:GL:GQ 1/1:26,11:9:-39.40,-2.71,-0.00:27.09 -chr1 626181 rs3873089 G A 177.45 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=25.43;MQ0=3;OQ=376.84;QD=28.99;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,13:10:-41.27,-3.01,-0.00:30.10 -chr1 638976 . C T 0.12 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;HRun=0;HaplotypeScore=4.06;MQ=23.85;MQ0=8;OQ=648.49;QD=24.02;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,27:17:-68.44,-5.12,-0.00:51.17 -chr1 640686 . A G 25.04 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=108;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=6.84;MQ0=102;QD=0.23;SB=-10.00 GT:AD:DP:GL:GQ 0/1:98,10:6:-7.60,-1.81,-15.47:57.87 -chr1 641012 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=157;Dels=0.00;HRun=1;HaplotypeScore=5.72;MQ=12.45;MQ0=138;OQ=282.66;QD=1.80;SB=-113.62 GT:AD:DP:GL:GQ 0/1:142,15:18:-36.97,-5.42,-32.71:99 -chr1 647651 . G C 91.46 PASS AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=15.14;MQ0=31;OQ=441.56;QD=9.39;SB=-238.61 GT:AD:DP:GL:GQ 1/1:28,19:11:-47.74,-3.31,-0.00:33.11 -chr1 652720 rs62639125 G A 47.02 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=8.82;MQ0=19;QD=1.42;SB=-10.00 GT:AD:DP:GL:GQ 1/1:13,20:2:-8.11,-0.60,-0.00:6.02 -chr1 652960 rs61769340 G C 105.13 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=20.58;MQ0=11;OQ=1522.59;QD=27.68;SB=-684.47 GT:AD:DP:GL:GQ 1/1:10,45:39:-155.88,-11.77,-0.03:99 -chr1 656406 . G A 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=112;Dels=0.00;HRun=0;HaplotypeScore=2.49;MQ=11.93;MQ0=83;OQ=127.34;QD=1.14;SB=-0.98 GT:AD:DP:GL:GQ 0/1:95,17:17:-21.14,-5.12,-45.67:99 -chr1 662072 . G A 11.72 PASS AC=1;AF=0.50;AN=2;DP=134;Dels=0.00;HRun=0;HaplotypeScore=4.71;MQ=27.50;MQ0=7;OQ=1481.48;QD=11.06;SB=-511.41 GT:AD:DP:GL:GQ 0/1:80,54:118:-187.00,-35.57,-233.79:99 -chr1 662535 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=130;Dels=0.00;HRun=1;HaplotypeScore=4.63;MQ=12.94;MQ0=86;OQ=221.86;QD=1.71;SB=-10.00 GT:AD:DP:GL:GQ 0/1:117,13:31:-34.81,-9.34,-77.61:99 -chr1 664297 . A T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=194;Dels=0.00;HRun=1;HaplotypeScore=8.91;MQ=25.89;MQ0=44;OQ=139.99;QD=0.72;SB=29.32 GT:AD:DP:GL:GQ 0/1:135,59:118:-52.83,-35.54,-396.03:99 -chr1 664319 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=197;Dels=0.00;HRun=1;HaplotypeScore=4.98;MQ=25.84;MQ0=39;OQ=562.89;QD=2.86;SB=-70.36 GT:AD:DP:GL:GQ 0/1:152,44:131:-101.81,-42.24,-385.33:99 -chr1 665009 . G A 0.15 PASS AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=7.66;MQ=13.29;MQ0=30;OQ=394.21;QD=6.36;SB=-10.00 GT:AD:DP:GL:GQ 1/1:20,42:11:-43.01,-3.32,-0.01:33.10 -chr1 665981 . C T 314.88 PASS AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=21.49;MQ0=9;OQ=1228.86;QD=15.36;SB=-521.03 GT:AD:DP:GL:GQ 0/1:42,38:68:-146.65,-20.48,-114.04:99 -chr1 678857 . T C 37.39 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=9.96;MQ0=52;QD=0.58;SB=-41.94 GT:AD:DP:GL:GQ 0/1:58,5:10:-10.04,-3.02,-24.70:70.23 -chr1 681407 . T A 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;HRun=13;HaplotypeScore=8.39;MQ=28.14;MQ0=23;OQ=991.49;QD=17.71;SB=-487.41 GT:AD:DP:GL:GQ 1/1:17,39:33:-109.19,-9.95,-6.46:34.91 -chr1 681927 . C G 40.97 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=4.89;MQ=4.61;MQ0=72;QD=0.54;SB=-10.00 GT:AD:DP:GL:GQ 0/1:72,2:3:-8.29,-0.90,-4.05:31.44 -chr1 684740 rs1829739 A C 31.20 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=3;HaplotypeScore=24.15;MQ=12.41;MQ0=41;QD=0.60;SB=-34.97 GT:AD:DP:GL:GQ 0/1:47,5:9:-9.12,-2.71,-21.21:64.03 -chr1 684742 . C A 14.57 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=37.61;MQ=12.41;MQ0=41;QD=0.28;SB=-31.35 GT:AD:DP:GL:GQ 0/1:46,6:9:-7.44,-2.71,-24.53:47.25 -chr1 684781 . C T 48.14 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;HRun=2;HaplotypeScore=2.66;MQ=4.69;MQ0=46;QD=1.00;SB=-49.56 GT:AD:DP:GL:GQ 1/1:40,8:2:-8.22,-0.60,-0.00:6.02 -chr1 684978 . A T 38.37 PASS AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=21.29;MQ0=2;OQ=86.08;QD=14.35;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,6:3:-12.10,-0.90,-0.00:9.03 -chr1 690691 rs6685320 T A 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=41.41;MQ0=1;OQ=71.22;QD=0.76;SB=149.48 GT:AD:DP:GL:GQ 0/1:83,11:90:-37.51,-27.11,-298.94:99 -chr1 692785 . C T 0.89 PASS AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=27.63;MQ0=14;OQ=282.72;QD=2.30;SB=-80.41 GT:AD:DP:GL:GQ 0/1:107,16:98:-61.07,-29.52,-300.46:99 -chr1 692834 . C T 2.02 PASS AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=26.70;MQ0=10;OQ=722.71;QD=6.12;SB=-381.76 GT:AD:DP:GL:GQ 0/1:89,29:108:-108.08,-32.53,-294.03:99 -chr1 692878 rs12124557 G C 71.38 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=18.28;MQ0=34;OQ=350.61;QD=4.61;SB=-168.38 GT:AD:DP:GL:GQ 0/1:61,15:41:-50.70,-12.35,-126.27:99 -chr1 694230 rs9727436 T C 8.89 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=32.48;MQ0=2;OQ=333.56;QD=17.56;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,18:12:-36.95,-3.62,-0.01:36.08 -chr1 695745 . G A 102.02 PASS AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=41.82;MQ0=0;OQ=1169.68;QD=16.02;SB=-501.47 GT:AD:DP:GL:GQ 0/1:36,37:71:-141.66,-21.41,-112.07:99 -chr1 696231 rs12029736 A G 92.82 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=39.21;MQ0=1;OQ=1205.31;QD=20.78;SB=-587.73 GT:AD:DP:GL:GQ 0/1:5,53:49:-138.60,-14.79,-16.39:15.94 -chr1 696641 . G A 0.05 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;HRun=0;HaplotypeScore=11.92;MQ=21.76;MQ0=28;OQ=1527.01;QD=18.18;SB=-47.56 GT:AD:DP:GL:GQ 1/1:26,58:39:-156.30,-11.75,-0.02:99 -chr1 704290 rs12028261 G A 67.98 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=1.14;MQ=38.97;MQ0=0;OQ=1407.21;QD=35.18;SB=-656.37 GT:AD:DP:GL:GQ 1/1:0,40:36:-144.32,-10.85,-0.01:99 -chr1 705211 rs3131984 T G 181.58 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=48.59;MQ0=0;OQ=1797.71;QD=32.69;SB=-808.10 GT:AD:DP:GL:GQ 1/1:0,55:52:-183.37,-15.66,-0.02:99 -chr1 705859 rs4614203 A T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=9;HaplotypeScore=9.09;MQ=20.66;MQ0=19;OQ=690.18;QD=13.80;SB=-46.39 GT:AD:DP:GL:GQ 1/1:1,48:20:-72.61,-6.03,-0.01:60.18 -chr1 708249 rs10900602 A G 1.62 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=0.93;MQ=25.93;MQ0=21;OQ=1118.18;QD=17.47;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,63:38:-115.46,-11.48,-0.05:99 -chr1 708418 rs10751453 T C 415.24 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=48.69;MQ0=5;OQ=1667.51;QD=27.79;SB=-566.12 GT:AD:DP:GL:GQ 1/1:4,56:54:-174.43,-16.28,-4.09:99 -chr1 710103 rs3121393 T C 439.85 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=25.62;MQ0=19;OQ=1791.16;QD=20.59;SB=-717.22 GT:AD:DP:GL:GQ 1/1:0,87:51:-182.72,-15.36,-0.02:99 -chr1 710660 rs3115846 G A 23.98 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=3;HaplotypeScore=0.95;MQ=32.94;MQ0=7;OQ=1843.21;QD=32.91;SB=-738.02 GT:AD:DP:GL:GQ 1/1:0,56:47:-187.92,-14.16,-0.01:99 -chr1 713754 rs2977670 G C 680.35 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=47.16;MQ0=0;OQ=1954.35;QD=36.87;SB=-819.16 GT:AD:DP:GL:GQ 1/1:0,53:49:-199.05,-14.78,-0.03:99 -chr1 714052 . G A 38.81 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=97;Dels=0.00;HRun=1;HaplotypeScore=27.06;MQ=47.82;MQ0=13;QD=0.40;SB=-19.66 GT:AD:DP:GL:GQ 0/1:88,9:69:-27.95,-20.79,-220.66:71.64 -chr1 714724 rs12123401 G A 77.21 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=38.16;MQ=32.18;MQ0=19;QD=1.19;SB=53.18 GT:AD:DP:GL:GQ 0/1:50,14:32:-20.64,-9.64,-97.41:99 -chr1 714732 rs12735556 C A 597.50 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=35.96;MQ=32.37;MQ0=15;QD=9.34;SB=-186.20 GT:AD:DP:GL:GQ 0/1:31,30:31:-72.37,-9.34,-42.36:99 -chr1 714734 rs12735557 C G 606.51 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=32.96;MQ=32.01;MQ0=15;QD=9.48;SB=-232.37 GT:AD:DP:GL:GQ 0/1:31,33:32:-73.58,-9.64,-63.94:99 -chr1 714811 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=96;Dels=0.00;HRun=1;HaplotypeScore=105.18;MQ=32.80;MQ0=13;OQ=394.82;QD=4.11;SB=-25.79 GT:AD:DP:GL:GQ 0/1:48,48:42:-55.42,-12.65,-93.88:99 -chr1 714830 . G A 44.58 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=97;Dels=0.00;HRun=2;HaplotypeScore=123.02;MQ=32.55;MQ0=17;QD=0.46;SB=2.03 GT:AD:DP:GL:GQ 0/1:60,27:26:-15.57,-7.83,-82.81:77.42 -chr1 714865 . G A 118.87 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=100;Dels=0.00;HRun=2;HaplotypeScore=72.07;MQ=36.16;MQ0=17;QD=1.19;SB=45.52 GT:AD:DP:GL:GQ 0/1:83,11:39:-26.94,-11.77,-99.77:99 -chr1 714869 . G A 210.22 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=101;Dels=0.00;HRun=0;HaplotypeScore=70.54;MQ=36.82;MQ0=18;QD=2.08;SB=89.30 GT:AD:DP:GL:GQ 0/1:78,22:52:-39.97,-15.66,-154.79:99 -chr1 714870 . G C 132.10 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=99;Dels=0.00;HRun=0;HaplotypeScore=64.77;MQ=36.96;MQ0=18;QD=1.33;SB=86.32 GT:AD:DP:GL:GQ 0/1:81,18:51:-31.86,-15.37,-195.72:99 -chr1 714885 . T G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=1;HaplotypeScore=11.63;MQ=42.34;MQ0=19;OQ=59.67;QD=0.80;SB=57.28 GT:AD:DP:GL:GQ 0/1:59,16:42:-21.91,-12.66,-130.29:92.50 -chr1 714965 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=93;Dels=0.06;HRun=0;HaplotypeScore=109.90;MQ=37.50;MQ0=15;OQ=104.38;QD=1.12;SB=93.07 GT:AD:DP:GL:GQ 0/1:76,7:50:-34.61,-20.89,-189.48:99 -chr1 714987 . A T 75.82 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=80;Dels=0.03;HRun=1;HaplotypeScore=85.54;MQ=37.34;MQ0=12;QD=0.95;SB=77.28 GT:AD:DP:GL:GQ 0/1:70,6:44:-26.77,-15.90,-141.85:99 -chr1 714990 . A G 169.75 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=75;Dels=0.04;HRun=1;HaplotypeScore=76.84;MQ=38.08;MQ0=11;QD=2.26;SB=1.07 GT:AD:DP:GL:GQ 0/1:50,19:44:-36.22,-15.96,-136.58:99 -chr1 714991 . A G 49.83 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=75;Dels=0.01;HRun=0;HaplotypeScore=63.75;MQ=38.08;MQ0=11;QD=0.66;SB=86.30 GT:AD:DP:GL:GQ 0/1:68,6:44:-21.52,-13.26,-154.68:82.67 -chr1 714995 . C A 39.02 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=2;HaplotypeScore=68.11;MQ=38.07;MQ0=12;QD=0.54;SB=48.86 GT:AD:DP:GL:GQ 0/1:52,10:39:-31.66,-24.48,-125.33:71.86 -chr1 715012 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=1;HaplotypeScore=28.31;MQ=43.81;MQ0=11;OQ=81.07;QD=1.33;SB=77.26 GT:AD:DP:GL:GQ 0/1:50,6:42:-27.43,-16.04,-129.03:99 -chr1 715014 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=1;HaplotypeScore=28.31;MQ=44.76;MQ0=10;OQ=135.00;QD=2.29;SB=80.30 GT:AD:DP:GL:GQ 0/1:48,10:43:-29.74,-12.96,-149.46:99 -chr1 715704 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=1;HaplotypeScore=25.25;MQ=54.80;MQ0=2;OQ=145.06;QD=1.23;SB=-43.38 GT:AD:DP:GL:GQ 0/1:97,21:107:-50.01,-32.22,-342.89:99 -chr1 716048 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=178;Dels=0.00;HRun=1;HaplotypeScore=18.47;MQ=39.54;MQ0=8;OQ=52.50;QD=0.29;SB=34.27 GT:AD:DP:GL:GQ 0/1:78,99:81:-32.94,-24.40,-274.16:85.34 -chr1 716061 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=185;Dels=0.00;HRun=0;HaplotypeScore=21.67;MQ=39.51;MQ0=6;OQ=115.15;QD=0.62;SB=43.85 GT:AD:DP:GL:GQ 0/1:135,49:85:-40.41,-25.61,-331.38:99 -chr1 716222 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=2;HaplotypeScore=139.36;MQ=31.95;MQ0=27;OQ=92.92;QD=0.79;SB=-50.76 GT:AD:DP:GL:GQ 0/1:103,13:47:-26.73,-14.16,-149.22:99 -chr1 716344 rs3131980 T G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=39.71;MQ=55.45;MQ0=6;OQ=2415.81;QD=31.79;SB=-1086.51 GT:AD:DP:GL:GQ 1/1:2,74:68:-245.18,-20.48,-0.02:99 -chr1 716802 rs4520358 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=160;Dels=0.00;HRun=0;HaplotypeScore=127.95;MQ=28.01;MQ0=48;OQ=1542.52;QD=9.64;SB=-717.92 GT:AD:DP:GL:GQ 0/1:109,49:76:-180.46,-22.93,-134.20:99 -chr1 716807 rs3131979 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=169;Dels=0.00;HRun=1;HaplotypeScore=146.45;MQ=27.53;MQ0=52;OQ=2520.74;QD=14.92;SB=-1257.54 GT:AD:DP:GL:GQ 0/1:69,89:79:-286.20,-30.85,-56.55:99 -chr1 717392 . A G 3.52 PASS AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=1;HaplotypeScore=3.37;MQ=24.74;MQ0=13;OQ=554.36;QD=8.66;SB=-175.95 GT:AD:DP:GL:GQ 0/1:36,28:38:-70.17,-11.45,-77.18:99 -chr1 717776 . A G 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=36.84;MQ0=8;OQ=198.21;QD=1.82;SB=-48.31 GT:AD:DP:GL:GQ 0/1:82,26:93:-51.12,-28.02,-315.62:99 -chr1 717825 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=45.12;MQ0=3;OQ=93.24;QD=0.90;SB=-41.95 GT:AD:DP:GL:GQ 0/1:87,17:97:-41.83,-29.22,-341.26:99 -chr1 718022 rs3131978 C T 227.01 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=24.78;MQ0=12;OQ=2206.38;QD=27.93;SB=-528.20 GT:AD:DP:GL:GQ 1/1:0,79:55:-224.24,-16.57,-0.01:99 -chr1 718105 rs3131977 C G 701.77 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.42;MQ0=9;OQ=2564.24;QD=33.30;SB=-886.52 GT:AD:DP:GL:GQ 1/1:0,77:61:-260.03,-18.38,-0.02:99 -chr1 718468 rs2977661 C A 0.97 PASS AC=1;AF=0.50;AN=2;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=44.88;MQ0=1;OQ=306.65;QD=3.13;SB=125.41 GT:AD:DP:GL:GQ 0/1:81,17:92:-61.67,-27.72,-254.10:99 -chr1 719542 rs4951859 C G 20.03 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=3;HaplotypeScore=0.73;MQ=51.87;MQ0=0;OQ=2314.11;QD=40.60;SB=-1158.05 GT:AD:DP:GL:GQ 1/1:0,57:55:-235.02,-16.58,-0.02:99 -chr1 722635 . G A 178.90 PASS AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.65;MQ0=17;OQ=703.25;QD=9.38;SB=-329.31 GT:AD:DP:GL:GQ 0/1:40,35:48:-88.07,-14.46,-95.92:99 -chr1 723861 rs3094321 C T 2.53 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=4.03;MQ=14.10;MQ0=13;OQ=171.30;QD=5.53;SB=-52.67 GT:AD:DP:GL:GQ 1/1:0,31:5:-20.69,-1.51,-0.00:15.05 -chr1 723905 rs3115866 G A 435.39 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=36.45;MQ0=11;OQ=1488.74;QD=31.02;SB=-417.55 GT:AD:DP:GL:GQ 1/1:0,48:37:-152.47,-11.14,-0.01:99 -chr1 724152 rs2427932 G A 28.59 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=40.65;MQ0=10;OQ=544.36;QD=7.78;SB=29.11 GT:AD:DP:GL:GQ 0/1:46,24:57:-74.91,-17.19,-123.40:99 -chr1 724325 rs12564807 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.02;HRun=14;HaplotypeScore=12.95;MQ=25.23;MQ0=25;OQ=486.84;QD=10.36;SB=-195.27 GT:AD:DP:GL:GQ 0/1:7,39:20:-57.99,-6.03,-17.33:99 -chr1 724354 rs7518433 T C 213.81 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=16.24;MQ0=8;OQ=108.50;QD=7.23;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,15:4:-14.38,-1.21,-0.00:12.04 -chr1 724429 . G A 5.67 PASS AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=39.71;MQ0=12;OQ=1919.08;QD=16.26;SB=-856.39 GT:AD:DP:GL:GQ 0/1:56,62:102:-225.91,-30.72,-172.49:99 -chr1 724483 rs2427930 A G 156.88 PASS AC=1;AF=0.50;AN=2;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=45.92;MQ0=8;OQ=1015.40;QD=8.46;SB=-368.74 GT:AD:DP:GL:GQ 0/1:73,47:110:-137.96,-33.13,-289.42:99 -chr1 724814 rs61770166 A G 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=100;Dels=0.01;HRun=0;HaplotypeScore=8.00;MQ=38.81;MQ0=11;OQ=57.16;QD=0.57;SB=101.37 GT:AD:DP:GL:GQ 0/1:74,25:85:-34.30,-25.30,-302.54:90 -chr1 725289 rs10900603 G A 319.30 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=20.84;MQ0=12;OQ=1308.47;QD=22.56;SB=-614.32 GT:AD:DP:GL:GQ 1/1:0,58:33:-134.44,-9.94,-0.01:99 -chr1 727603 rs3893479 G A 3.33 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=20.83;MQ0=35;OQ=241.46;QD=3.71;SB=-122.11 GT:AD:DP:GL:GQ 0/1:49,15:27:-35.56,-8.14,-65.14:99 -chr1 729005 rs2340527 T A 17.56 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=95;Dels=0.00;HRun=11;HaplotypeScore=0.00;MQ=42.93;MQ0=12;QD=0.18;SB=2.25 GT:AD:DP:GL:GQ 0/1:70,25:68:-25.52,-20.49,-222.57:50.31 -chr1 729073 rs2427917 A G 0.66 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=3;HaplotypeScore=1.32;MQ=36.83;MQ0=11;OQ=1725.34;QD=25.00;SB=-386.59 GT:AD:DP:GL:GQ 1/1:8,61:54:-180.20,-16.27,-4.08:99 -chr1 729289 rs3131973 A G 242.97 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=20.01;MQ0=22;OQ=768.10;QD=13.48;SB=-48.96 GT:AD:DP:GL:GQ 1/1:0,57:23:-80.40,-6.93,-0.01:69.20 -chr1 729391 rs3094317 G A 25.41 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=29.31;MQ0=14;OQ=1050.45;QD=23.87;SB=-501.02 GT:AD:DP:GL:GQ 1/1:0,44:27:-108.64,-8.13,-0.01:81.26 -chr1 731442 rs3115865 T C 10.98 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=14.78;MQ0=18;OQ=257.65;QD=3.79;SB=-147.73 GT:AD:DP:GL:GQ 1/1:0,68:9:-29.35,-2.71,-0.01:27.07 -chr1 732688 . A G 132.94 PASS AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=40.79;MQ0=0;OQ=1231.30;QD=15.02;SB=-638.22 GT:AD:DP:GL:GQ 0/1:40,42:81:-150.81,-24.40,-157.55:99 -chr1 732884 rs2488925 T C 45.12 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=12.78;MQ0=54;QD=0.47;SB=-0.97 GT:AD:DP:GL:GQ 0/1:72,25:9:-10.51,-2.71,-24.07:77.96 -chr1 732935 rs2488505 C A 405.73 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.91;MQ=25.42;MQ0=21;OQ=984.68;QD=12.62;SB=-456.35 GT:AD:DP:GL:GQ 1/1:10,68:28:-102.06,-8.43,-0.01:84.26 -chr1 734986 rs61823337 A C 21.52 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=121;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=22.23;MQ0=45;QD=0.18;SB=23.10 GT:AD:DP:GL:GQ 0/1:104,17:71:-26.81,-21.38,-234.10:54.33 -chr1 735210 rs2488501 T C 0.42 PASS AC=1;AF=0.50;AN=2;DB;DP=117;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=29.20;MQ0=16;OQ=204.37;QD=1.75;SB=-126.97 GT:AD:DP:GL:GQ 0/1:101,16:100:-53.85,-30.13,-340.21:99 -chr1 736231 rs3925106 C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=38.77;MQ0=4;OQ=87.62;QD=1.33;SB=28.85 GT:AD:DP:GL:GQ 0/1:58,8:62:-30.72,-18.67,-192.09:99 -chr1 736257 rs28622890 G A 34.58 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=41.58;MQ0=5;QD=0.43;SB=53.57 GT:AD:DP:GL:GQ 0/1:73,8:73:-28.75,-22.01,-217.76:67.42 -chr1 737271 rs2427896 G A 1.34 PASS AC=1;AF=0.50;AN=2;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=22.89;MQ0=27;OQ=95.91;QD=0.96;SB=26.10 GT:AD:DP:GL:GQ 0/1:78,22:62:-31.55,-18.68,-198.47:99 -chr1 737583 rs2488922 A G 0.48 PASS AC=1;AF=0.50;AN=2;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=42.10;MQ0=2;OQ=266.56;QD=2.17;SB=-121.05 GT:AD:DP:GL:GQ 0/1:92,31:105:-61.60,-31.66,-333.56:99 -chr1 738741 rs2519043 G T 42.42 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=26.82;MQ0=11;OQ=2109.65;QD=29.30;SB=-875.26 GT:AD:DP:GL:GQ 1/1:7,65:57:-214.56,-17.17,-0.01:99 -chr1 739128 rs2519041 G A 43.02 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=8.37;MQ0=49;QD=0.61;SB=-10.00 GT:AD:DP:GL:GQ 1/1:19,51:2:-7.71,-0.60,-0.00:6.02 -chr1 739546 rs12184332 C T 184.94 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=12.22;MQ0=29;OQ=412.05;QD=9.81;SB=-172.22 GT:AD:DP:GL:GQ 1/1:0,15:11:-44.79,-3.31,-0.00:33.11 -chr1 739719 rs12409679 C T 476.33 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=19.16;MQ0=31;OQ=1249.90;QD=19.53;SB=-559.74 GT:AD:DP:GL:GQ 1/1:9,55:32:-128.58,-9.64,-0.01:96.31 -chr1 739852 rs12409693 C T 32.23 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=4;HaplotypeScore=0.83;MQ=11.24;MQ0=16;QD=1.29;SB=-3.98 GT:AD:DP:GL:GQ 0/1:9,16:4:-7.71,-1.20,-7.59:63.88 -chr1 739860 rs12410209 A G 6.46 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=11.03;MQ0=14;OQ=69.01;QD=3.14;SB=-6.99 GT:AD:DP:GL:GQ 0/1:7,15:4:-11.39,-1.20,-4.06:28.52 -chr1 742429 rs3094315 G A 709.48 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=50.17;MQ0=0;OQ=3081.43;QD=40.02;SB=-1319.35 GT:AD:DP:GL:GQ 1/1:0,77:77:-311.75,-23.19,-0.02:99 -chr1 742584 rs3131972 A G 25.55 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=3;HaplotypeScore=0.95;MQ=43.52;MQ0=0;OQ=2970.98;QD=35.37;SB=-1399.49 GT:AD:DP:GL:GQ 1/1:0,84:83:-300.71,-25.00,-0.02:99 -chr1 742757 rs3131971 T C 41.65 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=1.21;MQ=23.17;MQ0=17;OQ=516.07;QD=12.59;SB=-10.00 GT:AD:DP:GL:GQ 1/1:4,37:19:-55.23,-5.74,-0.04:57.08 -chr1 743132 rs3115861 C G 14.67 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.96;MQ=27.06;MQ0=17;OQ=1234.23;QD=26.26;SB=-15.29 GT:AD:DP:GL:GQ 1/1:0,46:29:-129.86,-11.46,-2.85:86.17 -chr1 743268 rs3115860 C A 75.43 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=21.75;MQ0=7;OQ=486.16;QD=22.10;SB=-153.55 GT:AD:DP:GL:GQ 1/1:0,22:14:-52.20,-4.22,-0.00:42.13 -chr1 743288 rs3131970 T C 362.63 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=18.31;MQ0=12;OQ=231.44;QD=11.57;SB=-100.85 GT:AD:DP:GL:GQ 1/1:0,20:8:-26.73,-2.41,-0.01:24.06 -chr1 743337 rs2073814 C G 1.55 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=4;HaplotypeScore=1.47;MQ=27.30;MQ0=10;OQ=1125.84;QD=30.43;SB=-429.30 GT:AD:DP:GL:GQ 1/1:1,36:27:-116.18,-8.13,-0.01:81.27 -chr1 743712 rs56101360 G T 37.36 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=10.96;MQ0=18;OQ=73.40;QD=3.50;SB=-44.39 GT:AD:DP:GL:GQ 1/1:0,21:3:-10.83,-0.90,-0.00:9.03 -chr1 744045 rs3131969 A G 233.56 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=47.14;MQ0=6;OQ=1104.31;QD=23.50;SB=-502.19 GT:AD:DP:GL:GQ 1/1:0,47:36:-114.05,-10.86,-0.03:99 -chr1 744055 rs3131968 A G 489.63 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=47.65;MQ0=5;OQ=1245.81;QD=27.08;SB=-566.90 GT:AD:DP:GL:GQ 1/1:0,46:40:-128.20,-12.07,-0.04:99 -chr1 744197 rs3131967 T C 119.26 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=53.80;MQ0=2;OQ=2119.16;QD=28.26;SB=-841.48 GT:AD:DP:GL:GQ 1/1:1,74:67:-215.56,-20.21,-0.06:99 -chr1 744366 rs3115859 G A 143.80 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.48;MQ0=0;OQ=2152.98;QD=37.77;SB=-958.79 GT:AD:DP:GL:GQ 1/1:0,55:55:-218.90,-16.57,-0.02:99 -chr1 744827 rs3131966 C T 120.29 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=47.82;MQ0=1;OQ=2882.74;QD=38.96;SB=-1406.06 GT:AD:DP:GL:GQ 1/1:1,73:72:-291.88,-21.69,-0.02:99 -chr1 745638 rs3131965 A G 37.34 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=3.96;MQ=59.56;MQ0=0;OQ=1308.09;QD=25.16;SB=-645.91 GT:AD:DP:GL:GQ 1/1:2,50:45:-138.61,-13.58,-4.21:93.63 -chr1 745750 rs3131964 C G 3.97 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=53.42;MQ0=0;OQ=1959.71;QD=42.60;SB=-541.05 GT:AD:DP:GL:GQ 1/1:0,46:45:-199.57,-13.56,-0.01:99 -chr1 745753 rs3115858 A T 53.72 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.80;MQ=52.51;MQ0=0;OQ=1749.78;QD=37.23;SB=-548.77 GT:AD:DP:GL:GQ 1/1:0,47:47:-178.57,-14.15,-0.01:99 -chr1 745791 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=2;HaplotypeScore=18.24;MQ=43.86;MQ0=9;OQ=50.05;QD=0.65;SB=68.26 GT:AD:DP:GL:GQ 0/1:71,6:65:-27.87,-19.59,-256.05:82.88 -chr1 745803 rs3115857 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=56.59;MQ=40.14;MQ0=10;OQ=1678.77;QD=22.69;SB=-752.72 GT:AD:DP:GL:GQ 0/1:24,50:53:-187.11,-15.98,-16.89:9.18 -chr1 745905 . G C 40.04 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=1;HaplotypeScore=109.46;MQ=39.52;MQ0=1;QD=0.47;SB=41.16 GT:AD:DP:GL:GQ 0/1:44,42:46:-21.15,-13.87,-174.52:72.88 -chr1 745926 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=1;HaplotypeScore=71.25;MQ=39.59;MQ0=1;OQ=190.93;QD=2.22;SB=53.16 GT:AD:DP:GL:GQ 0/1:47,39:55:-38.95,-16.57,-157.39:99 -chr1 745944 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=0;HaplotypeScore=34.08;MQ=37.55;MQ0=2;OQ=183.15;QD=2.23;SB=41.15 GT:AD:DP:GL:GQ 0/1:68,13:63:-40.58,-18.98,-189.40:99 -chr1 745947 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=0;HaplotypeScore=35.45;MQ=37.64;MQ0=2;OQ=144.60;QD=1.76;SB=41.13 GT:AD:DP:GL:GQ 0/1:61,21:63:-36.72,-18.98,-195.32:99 -chr1 745969 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=26.39;MQ=43.31;MQ0=1;OQ=191.12;QD=2.62;SB=65.24 GT:AD:DP:GL:GQ 0/1:56,17:62:-41.07,-18.68,-205.74:99 -chr1 745970 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=53.14;MQ=43.05;MQ0=1;OQ=181.87;QD=2.46;SB=65.22 GT:AD:DP:GL:GQ 0/1:57,13:62:-40.15,-18.68,-186.08:99 -chr1 746120 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=2;HaplotypeScore=45.83;MQ=41.92;MQ0=5;OQ=178.43;QD=2.66;SB=1.10 GT:AD:DP:GL:GQ 0/1:36,31:38:-32.58,-11.45,-99.35:99 -chr1 746127 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=0;HaplotypeScore=64.18;MQ=39.79;MQ0=5;OQ=90.17;QD=1.29;SB=23.10 GT:AD:DP:GL:GQ 0/1:61,9:40:-24.35,-12.05,-113.93:99 -chr1 746131 rs12567639 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=86.22;MQ=40.15;MQ0=5;OQ=1193.97;QD=14.74;SB=-198.46 GT:AD:DP:GL:GQ 0/1:23,47:41:-137.40,-14.72,-24.14:94.15 -chr1 746140 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=101;Dels=0.00;HRun=0;HaplotypeScore=67.36;MQ=39.96;MQ0=6;OQ=451.51;QD=4.47;SB=-226.37 GT:AD:DP:GL:GQ 0/1:64,37:56:-65.31,-16.87,-128.04:99 -chr1 746183 rs61768169 G A 45.64 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=15.14;MQ=43.93;MQ0=4;QD=0.48;SB=0.06 GT:AD:DP:GL:GQ 0/1:84,10:80:-31.96,-24.11,-251.75:78.48 -chr1 746197 . C T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=0;HaplotypeScore=9.62;MQ=45.83;MQ0=2;OQ=266.46;QD=3.10;SB=-143.52 GT:AD:DP:GL:GQ 0/1:62,24:69:-50.72,-20.79,-191.84:99 -chr1 746210 . C G 29.36 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=1;HaplotypeScore=12.28;MQ=48.57;MQ0=1;QD=0.39;SB=83.30 GT:AD:DP:GL:GQ 0/1:61,15:60:-24.30,-18.08,-232.38:62.19 -chr1 746211 . A C 19.28 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=1;HaplotypeScore=12.28;MQ=48.88;MQ0=1;QD=0.26;SB=56.68 GT:AD:DP:GL:GQ 0/1:55,20:60:-23.28,-18.07,-191.05:52.07 -chr1 746241 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=1;HaplotypeScore=37.04;MQ=43.41;MQ0=2;OQ=460.88;QD=4.90;SB=-102.94 GT:AD:DP:GL:GQ 0/1:66,28:77:-72.58,-23.21,-260.56:99 -chr1 746243 rs3131963 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=38.28;MQ=42.00;MQ0=2;OQ=2225.83;QD=20.61;SB=-986.67 GT:AD:DP:GL:GQ 0/1:37,71:77:-249.07,-23.20,-37.48:99 -chr1 746259 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=0;HaplotypeScore=53.13;MQ=42.82;MQ0=2;OQ=115.63;QD=1.04;SB=-45.40 GT:AD:DP:GL:GQ 0/1:89,21:81:-39.28,-24.43,-223.64:99 -chr1 746271 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=108;Dels=0.00;HRun=0;HaplotypeScore=62.70;MQ=43.89;MQ0=1;OQ=73.67;QD=0.68;SB=-12.36 GT:AD:DP:GL:GQ 0/1:82,19:79:-37.12,-26.47,-271.48:99 -chr1 746467 rs3131962 A G 256.08 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=48.92;MQ0=2;OQ=1247.82;QD=23.54;SB=-557.88 GT:AD:DP:GL:GQ 1/1:1,52:40:-128.40,-12.06,-0.04:99 -chr1 747503 rs3115853 G A 25.12 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=3.30;MQ=58.23;MQ0=2;OQ=3098.30;QD=37.78;SB=-1549.56 GT:AD:DP:GL:GQ 1/1:0,81:79:-317.18,-27.31,-3.76:99 -chr1 747597 rs4951929 C T 626.13 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.73;MQ0=0;OQ=2652.10;QD=38.44;SB=-1324.28 GT:AD:DP:GL:GQ 1/1:0,69:67:-268.81,-20.18,-0.02:99 -chr1 747799 rs4951862 C A 77.67 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=57.90;MQ0=0;OQ=1743.44;QD=32.90;SB=-442.30 GT:AD:DP:GL:GQ 1/1:0,53:51:-177.95,-15.36,-0.02:99 -chr1 748007 rs3131956 A G 613.10 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.03;MQ0=0;OQ=1973.59;QD=34.03;SB=-931.61 GT:AD:DP:GL:GQ 1/1:0,58:58:-200.97,-17.48,-0.03:99 -chr1 748187 rs3131955 T C 137.90 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=57.23;MQ0=0;OQ=1684.65;QD=30.08;SB=-868.87 GT:AD:DP:GL:GQ 1/1:0,56:51:-172.08,-15.37,-0.03:99 -chr1 748489 rs3131954 C T 606.26 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.38;MQ0=0;OQ=1957.02;QD=37.63;SB=-957.97 GT:AD:DP:GL:GQ 1/1:0,52:51:-199.31,-15.37,-0.02:99 -chr1 749563 rs3115852 T C 295.01 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=24.43;MQ0=19;OQ=1638.73;QD=24.46;SB=-694.62 GT:AD:DP:GL:GQ 1/1:0,67:46:-167.47,-13.85,-0.01:99 -chr1 749700 rs3115851 T A 246.72 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=37.92;MQ0=12;OQ=2113.34;QD=28.18;SB=-566.84 GT:AD:DP:GL:GQ 1/1:0,75:55:-214.93,-16.56,-0.01:99 -chr1 750775 rs1048488 C T 147.65 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=55.79;MQ0=0;OQ=2544.23;QD=37.42;SB=-1282.72 GT:AD:DP:GL:GQ 1/1:0,68:64:-258.02,-19.28,-0.02:99 -chr1 751010 rs3115850 T C 532.65 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=53.77;MQ0=0;OQ=2501.23;QD=35.73;SB=-1116.81 GT:AD:DP:GL:GQ 1/1:0,70:69:-253.73,-20.78,-0.02:99 -chr1 751595 rs2286139 C T 599.50 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=41.46;MQ0=7;OQ=1283.06;QD=32.08;SB=-543.21 GT:AD:DP:GL:GQ 1/1:0,40:32:-131.90,-9.64,-0.01:96.32 -chr1 751615 rs1057213 C T 31.34 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=31.78;MQ0=12;OQ=906.27;QD=25.17;SB=-453.10 GT:AD:DP:GL:GQ 1/1:0,36:23:-94.22,-6.93,-0.00:69.23 -chr1 751674 rs1057212 G A 293.40 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=15.73;MQ0=12;OQ=176.65;QD=10.39;SB=-51.56 GT:AD:DP:GL:GQ 1/1:0,17:5:-21.22,-1.51,-0.00:15.05 -chr1 752136 rs3115849 G A 60.54 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=27.04;MQ0=8;OQ=733.35;QD=26.19;SB=-160.21 GT:AD:DP:GL:GQ 1/1:0,28:19:-76.93,-5.73,-0.01:57.18 -chr1 752452 rs3115848 G C 110.74 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=44.19;MQ0=1;OQ=1521.80;QD=34.59;SB=-621.54 GT:AD:DP:GL:GQ 1/1:1,43:40:-155.80,-12.08,-0.04:99 -chr1 752455 rs3131950 C G 3.82 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=4.46;MQ=42.62;MQ0=2;OQ=1386.15;QD=32.24;SB=-555.07 GT:AD:DP:GL:GQ 1/1:1,42:36:-142.24,-10.87,-0.04:99 -chr1 752464 rs3131949 T C 84.88 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=40.87;MQ0=2;OQ=1077.25;QD=28.35;SB=-454.51 GT:AD:DP:GL:GQ 1/1:1,37:32:-111.32,-9.64,-0.01:96.27 -chr1 752495 rs3131948 T A 77.80 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.33;MQ=37.91;MQ0=2;OQ=926.17;QD=28.94;SB=-390.81 GT:AD:DP:GL:GQ 1/1:1,31:26:-96.21,-7.83,-0.01:78.23 -chr1 753257 rs3115847 G A 0.46 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=27.21;MQ0=9;OQ=840.10;QD=24.71;SB=-20.92 GT:AD:DP:GL:GQ 1/1:5,28:22:-89.90,-8.89,-2.30:65.88 -chr1 755968 rs2519015 T A 366.75 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=18.21;MQ0=48;OQ=1019.18;QD=12.90;SB=-121.94 GT:AD:DP:GL:GQ 1/1:23,56:29:-105.51,-8.74,-0.01:87.26 -chr1 757643 rs2905042 G A 71.81 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.33;MQ=34.85;MQ0=1;OQ=1607.55;QD=32.81;SB=-663.38 GT:AD:DP:GL:GQ 1/1:0,49:41:-164.35,-12.35,-0.01:99 -chr1 758116 rs2977608 A C 58.89 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=47.69;MQ0=11;OQ=2396.98;QD=30.34;SB=-914.67 GT:AD:DP:GL:GQ 1/1:4,75:68:-243.30,-20.48,-0.02:99 -chr1 759692 rs2977607 C A 65.29 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=47.39;MQ0=6;OQ=1539.69;QD=31.42;SB=-733.73 GT:AD:DP:GL:GQ 1/1:0,49:42:-157.56,-12.65,-0.01:99 -chr1 759938 rs2977606 C T 514.72 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.63;MQ0=7;OQ=1693.07;QD=33.20;SB=-574.34 GT:AD:DP:GL:GQ 1/1:0,51:44:-172.91,-13.26,-0.01:99 -chr1 760431 rs3131943 A G 213.11 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=31.32;MQ0=2;OQ=527.61;QD=27.77;SB=-87.92 GT:AD:DP:GL:GQ 1/1:0,19:16:-56.35,-4.82,-0.00:48.14 -chr1 760781 rs3095826 T G 40.05 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=15.14;MQ0=8;QD=3.64;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,11:2:-7.41,-0.60,-0.00:6.02 -chr1 761273 rs2519006 C T 29.93 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=2;HaplotypeScore=0.96;MQ=27.71;MQ0=20;OQ=1719.34;QD=22.33;SB=-558.69 GT:AD:DP:GL:GQ 1/1:18,59:45:-179.00,-13.55,-3.48:99 -chr1 761686 rs2977605 T C 284.90 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=40.99;MQ0=4;OQ=744.87;QD=26.60;SB=-283.54 GT:AD:DP:GL:GQ 1/1:0,28:24:-78.09,-7.24,-0.02:72.16 -chr1 762618 rs2905039 A C 494.84 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.90;MQ0=0;OQ=1864.52;QD=29.13;SB=-798.77 GT:AD:DP:GL:GQ 1/1:0,64:60:-190.09,-18.09,-0.06:99 -chr1 764599 rs28830877 A C 154.63 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=49.78;MQ0=3;OQ=2217.13;QD=30.37;SB=-1008.12 GT:AD:DP:GL:GQ 1/1:0,73:64:-225.32,-19.28,-0.02:99 -chr1 764648 rs28873693 G A 193.89 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=40.27;MQ0=2;OQ=1900.97;QD=32.22;SB=-951.98 GT:AD:DP:GL:GQ 1/1:0,59:49:-193.70,-14.76,-0.02:99 -chr1 764732 rs55994826 G A 15.73 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=36.88;MQ0=1;QD=0.58;SB=17.08 GT:AD:DP:GL:GQ 0/1:24,3:23:-11.77,-6.93,-72.32:48.45 -chr1 764737 rs28810152 A C 715.74 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=38.33;MQ0=0;QD=28.63;SB=-297.55 GT:AD:DP:GL:GQ 1/1:0,25:22:-75.17,-6.63,-0.01:66.18 -chr1 764742 . A T 46.72 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=39.13;MQ0=0;QD=2.03;SB=-38.86 GT:AD:DP:GL:GQ 0/1:19,4:18:-13.38,-5.42,-51.11:79.56 -chr1 764746 . G A 393.33 SnpCluster AC=1;AF=0.50;AN=2;DP=22;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=40.70;MQ0=1;QD=17.88;SB=-221.92 GT:AD:DP:GL:GQ 0/1:8,14:19:-48.34,-5.72,-22.76:99 -chr1 764763 rs28797844 C G 118.37 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=44.74;MQ0=1;OQ=234.91;QD=8.39;SB=-89.25 GT:AD:DP:GL:GQ 0/1:20,8:26:-34.62,-7.84,-73.94:99 -chr1 764786 rs28769076 G C 293.91 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=38.71;MQ0=4;OQ=1154.38;QD=32.98;SB=-346.74 GT:AD:DP:GL:GQ 1/1:0,35:27:-119.03,-8.14,-0.01:81.27 -chr1 765119 . T G 7.65 PASS AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=15.72;MQ0=15;OQ=87.25;QD=4.15;SB=-66.98 GT:AD:DP:GL:GQ 0/1:15,6:6:-13.82,-1.81,-7.64:58.28 -chr1 765289 rs2905037 G A 284.46 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=48.40;MQ0=0;OQ=3000.65;QD=37.51;SB=-1455.38 GT:AD:DP:GL:GQ 1/1:0,80:75:-303.67,-22.59,-0.02:99 -chr1 765522 rs2905035 A G 84.99 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=40.77;MQ0=3;OQ=2096.78;QD=30.39;SB=-645.26 GT:AD:DP:GL:GQ 1/1:0,68:58:-213.28,-17.47,-0.02:99 -chr1 766409 rs12124819 A G 273.30 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=51.01;MQ0=0;OQ=1354.31;QD=15.75;SB=-621.86 GT:AD:DP:GL:GQ 0/1:41,45:85:-164.32,-25.60,-163.76:99 -chr1 766985 rs2980319 A T 684.18 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.93;MQ0=0;OQ=2347.43;QD=37.26;SB=-849.94 GT:AD:DP:GL:GQ 1/1:0,63:62:-238.35,-18.68,-0.02:99 -chr1 768432 rs2977615 A G 315.81 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=46.80;MQ0=5;OQ=1414.86;QD=25.27;SB=-618.23 GT:AD:DP:GL:GQ 1/1:0,56:46:-145.13,-13.88,-0.05:99 -chr1 769890 rs2977613 G T 314.36 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=53.23;MQ0=0;OQ=2549.06;QD=34.45;SB=-1034.15 GT:AD:DP:GL:GQ 1/1:0,74:70:-258.51,-21.09,-0.02:99 -chr1 770648 rs2977612 T A 316.89 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=55.02;MQ0=0;OQ=2471.78;QD=34.81;SB=-1070.63 GT:AD:DP:GL:GQ 1/1:1,70:68:-253.32,-20.49,-2.56:99 -chr1 773167 rs2980295 T C 625.67 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=32.46;MQ0=0;OQ=2479.28;QD=34.43;SB=-1064.87 GT:AD:DP:GL:GQ 1/1:0,72:71:-251.54,-21.39,-0.02:99 -chr1 774913 rs2905062 G A 647.91 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.25;MQ0=0;OQ=2057.09;QD=38.09;SB=-793.69 GT:AD:DP:GL:GQ 1/1:0,54:52:-209.31,-15.66,-0.01:99 -chr1 775852 rs2980300 T C 398.92 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=47.91;MQ0=0;OQ=1925.83;QD=36.34;SB=-289.45 GT:AD:DP:GL:GQ 1/1:0,53:52:-196.18,-15.66,-0.01:99 -chr1 776110 rs59319764 G A 135.46 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=22.95;MQ0=5;OQ=708.27;QD=21.46;SB=-330.44 GT:AD:DP:GL:GQ 1/1:5,28:18:-74.41,-5.42,-0.00:54.18 -chr1 776673 rs2905061 G A 271.44 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=18.77;MQ0=2;OQ=243.21;QD=12.80;SB=-51.67 GT:AD:DP:GL:GQ 1/1:0,19:7:-27.90,-2.11,-0.00:21.07 -chr1 776882 rs2905060 C T 28.05 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=24.47;MQ0=13;OQ=680.11;QD=21.25;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,32:18:-71.60,-5.42,-0.01:54.17 -chr1 776908 . C G 26.94 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=1;HaplotypeScore=2.47;MQ=23.04;MQ0=7;QD=1.35;SB=-10.00 GT:AD:DP:GL:GQ 0/1:11,8:6:-7.79,-1.82,-13.09:59.77 -chr1 776998 rs28753393 A G 1.62 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=22.78;MQ0=8;OQ=492.59;QD=20.52;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,24:14:-52.85,-4.22,-0.00:42.13 -chr1 777048 rs2905058 G A 64.34 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=2.66;MQ=17.04;MQ0=12;OQ=310.80;QD=12.43;SB=-128.67 GT:AD:DP:GL:GQ 1/1:0,25:9:-34.67,-2.71,-0.01:27.08 -chr1 777068 rs2905057 G A 256.67 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=15.61;MQ0=17;OQ=265.15;QD=9.14;SB=-131.67 GT:AD:DP:GL:GQ 1/1:0,29:8:-30.10,-2.41,-0.01:24.07 -chr1 777125 rs2905056 C G 369.51 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=42.20;MQ0=14;OQ=1716.63;QD=32.39;SB=-514.60 GT:AD:DP:GL:GQ 1/1:0,53:39:-175.26,-11.75,-0.01:99 -chr1 777262 rs2905055 G T 436.57 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=43.93;MQ0=5;OQ=1457.00;QD=33.11;SB=-678.96 GT:AD:DP:GL:GQ 1/1:0,44:39:-149.29,-11.74,-0.01:99 -chr1 777290 . C T 29.42 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=32.80;MQ0=5;OQ=855.45;QD=17.11;SB=-308.80 GT:AD:DP:GL:GQ 0/1:21,29:44:-102.09,-13.26,-62.10:99 -chr1 777548 rs2905054 G T 500.83 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.40;MQ0=0;OQ=2267.93;QD=36.00;SB=-851.89 GT:AD:DP:GL:GQ 1/1:0,63:62:-230.39,-18.67,-0.01:99 -chr1 777707 rs2905053 C T 334.21 PASS AC=2;AF=1.00;AN=2;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=44.44;MQ0=2;OQ=3957.07;QD=39.57;SB=-1940.72 GT:AD:DP:GL:GQ 1/1:0,100:95:-394.71,-28.61,-0.02:99 -chr1 778576 rs2980306 T C 128.68 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=33.51;MQ0=34;OQ=1562.02;QD=19.05;SB=-268.41 GT:AD:DP:GL:GQ 1/1:13,69:45:-159.81,-13.56,-0.02:99 -chr1 778703 rs10157303 T C 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=3;HaplotypeScore=7.41;MQ=38.85;MQ0=14;OQ=444.81;QD=5.30;SB=-42.81 GT:AD:DP:GL:GQ 0/1:40,44:57:-64.95,-17.19,-138.39:99 -chr1 778707 rs10159337 C G 0.38 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=39.47;MQ0=14;OQ=423.04;QD=5.29;SB=32.36 GT:AD:DP:GL:GQ 0/1:47,33:53:-61.57,-15.98,-162.13:99 -chr1 778752 rs10159341 C T 0.26 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=43.79;MQ0=4;OQ=82.84;QD=1.45;SB=53.17 GT:AD:DP:GL:GQ 0/1:50,7:44:-24.83,-13.27,-122.87:99 -chr1 778808 . G C 4.86 PASS AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=23.40;MQ0=13;OQ=99.43;QD=5.52;SB=-51.47 GT:AD:DP:GL:GQ 1/1:11,7:3:-13.43,-0.90,-0.00:9.03 -chr1 778958 . C G 0.12 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=6.83;MQ=13.77;MQ0=12;OQ=373.21;QD=7.46;SB=-3.98 GT:AD:DP:GL:GQ 0/1:40,10:17:-45.73,-5.12,-29.92:99 -chr1 778962 rs10158938 G A 0.10 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=6.77;MQ=13.74;MQ0=12;OQ=114.14;QD=2.24;SB=-77.09 GT:AD:DP:GL:GQ 0/1:17,34:17:-19.83,-5.13,-36.56:99 -chr1 779001 . C G 62.18 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=0;HaplotypeScore=43.25;MQ=17.50;MQ0=24;QD=0.60;SB=-3.98 GT:AD:DP:GL:GQ 0/1:92,11:44:-22.76,-13.26,-160.88:95.02 -chr1 779004 . G C 379.18 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=105;Dels=0.00;HRun=0;HaplotypeScore=41.31;MQ=17.52;MQ0=26;QD=3.61;SB=-3.98 GT:AD:DP:GL:GQ 0/1:83,21:42:-55.98,-14.78,-128.84:99 -chr1 779007 . G C 125.98 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=0;HaplotypeScore=41.47;MQ=17.84;MQ0=24;QD=1.21;SB=-3.98 GT:AD:DP:GL:GQ 0/1:82,22:45:-29.45,-13.56,-167.32:99 -chr1 779046 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=112;Dels=0.00;HRun=0;HaplotypeScore=13.36;MQ=16.85;MQ0=30;OQ=85.18;QD=0.76;SB=-0.98 GT:AD:DP:GL:GQ 0/1:103,9:39:-23.55,-11.75,-110.84:99 -chr1 779119 rs3131939 T C 14.51 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=38.97;MQ0=6;OQ=1691.71;QD=26.03;SB=-847.52 GT:AD:DP:GL:GQ 1/1:0,65:53:-172.80,-15.99,-0.05:99 -chr1 782126 rs1044922 A G 199.05 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=35.10;MQ0=8;OQ=1304.52;QD=20.38;SB=-463.86 GT:AD:DP:GL:GQ 1/1:3,61:42:-134.08,-12.67,-0.04:99 -chr1 782343 rs2905036 C T 605.33 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=44.88;MQ0=2;OQ=3789.97;QD=39.07;SB=-1780.39 GT:AD:DP:GL:GQ 1/1:0,97:94:-378.00,-28.32,-0.03:99 -chr1 783071 rs2905029 C G 4.69 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=24.02;MQ0=7;OQ=636.50;QD=15.91;SB=29.13 GT:AD:DP:GL:GQ 0/1:20,20:32:-76.58,-9.64,-67.00:99 -chr1 783292 rs2519067 T C 14.72 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=32.87;MQ0=7;OQ=1046.72;QD=28.29;SB=-162.84 GT:AD:DP:GL:GQ 1/1:5,32:30:-108.26,-9.03,-0.01:90.27 -chr1 785455 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=20;HaplotypeScore=3.33;MQ=47.34;MQ0=4;OQ=246.17;QD=4.48;SB=-56.75 GT:AD:DP:GL:GQ 0/1:43,12:47:-42.06,-14.16,-132.17:99 -chr1 786397 . T C 0.59 PASS AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=41.18;MQ0=9;OQ=325.37;QD=4.52;SB=-24.72 GT:AD:DP:GL:GQ 0/1:50,22:59:-53.59,-17.77,-179.67:99 -chr1 786590 rs2909612 G T 160.63 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=27.34;MQ0=10;OQ=1960.56;QD=30.63;SB=-1001.80 GT:AD:DP:GL:GQ 1/1:0,64:54:-199.65,-16.26,-0.01:99 -chr1 786630 rs12076540 G A 0.40 PASS AC=1;AF=0.50;AN=2;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=7.41;MQ=41.01;MQ0=13;OQ=2659.94;QD=26.60;SB=-1327.51 GT:AD:DP:GL:GQ 0/1:23,77:83:-294.28,-25.01,-36.59:99 -chr1 786634 rs2909613 T C 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=7.24;MQ=42.00;MQ0=12;OQ=84.11;QD=0.83;SB=12.37 GT:AD:DP:GL:GQ 0/1:80,21:85:-37.30,-25.61,-300.66:99 -chr1 786902 . A G 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=128;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=48.19;MQ0=15;OQ=198.92;QD=1.55;SB=-72.06 GT:AD:DP:GL:GQ 0/1:96,32:111:-56.61,-33.43,-385.87:99 -chr1 787026 . G A 14.82 LowQual AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=46.76;MQ0=8;QD=0.17;SB=-27.80 GT:AD:DP:GL:GQ 0/1:74,15:80:-28.85,-24.10,-261.80:47.51 -chr1 787041 . A T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=44.71;MQ0=13;OQ=84.25;QD=0.90;SB=-23.86 GT:AD:DP:GL:GQ 0/1:71,22:80:-37.92,-26.21,-271.06:99 -chr1 787889 rs4951864 C T 266.17 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=45.78;MQ0=1;OQ=2714.18;QD=38.77;SB=-989.31 GT:AD:DP:GL:GQ 1/1:1,69:67:-275.02,-20.18,-0.01:99 -chr1 789326 rs4245756 T C 211.89 PASS AC=2;AF=1.00;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=58.75;MQ0=0;OQ=3107.92;QD=34.53;SB=-1502.55 GT:AD:DP:GL:GQ 1/1:0,90:89:-314.41,-26.81,-0.04:99 -chr1 789870 rs6681049 T C 615.97 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=47.06;MQ0=1;OQ=2660.56;QD=34.55;SB=-1115.14 GT:AD:DP:GL:GQ 1/1:0,77:73:-269.66,-21.99,-0.02:99 -chr1 790246 rs4951931 C T 190.77 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=47.97;MQ0=4;OQ=2808.35;QD=36.95;SB=-1258.17 GT:AD:DP:GL:GQ 1/1:1,75:70:-284.44,-21.09,-0.02:99 -chr1 791806 rs7516866 C T 78.65 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=1.85;MQ=49.91;MQ0=4;OQ=2127.43;QD=34.88;SB=-1017.37 GT:AD:DP:GL:GQ 1/1:0,61:56:-216.36,-16.88,-0.03:99 -chr1 791858 rs7553084 G A 0.25 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=36.92;MQ0=13;OQ=63.33;QD=1.47;SB=-33.64 GT:AD:DP:GL:GQ 0/1:29,14:21:-15.95,-6.33,-55.40:96.17 -chr1 791869 rs9700144 T C 36.55 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=30.98;MQ0=16;OQ=499.95;QD=11.90;SB=-156.35 GT:AD:DP:GL:GQ 0/1:18,24:19:-59.00,-5.72,-11.19:54.70 -chr1 791956 rs7553197 G A 67.79 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=36.93;MQ0=8;OQ=1294.09;QD=27.53;SB=-402.66 GT:AD:DP:GL:GQ 1/1:3,44:34:-133.00,-10.24,-0.01:99 -chr1 792054 . G A 0.09 PASS AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=0;HaplotypeScore=2.92;MQ=30.80;MQ0=19;OQ=223.16;QD=2.37;SB=-57.50 GT:AD:DP:GL:GQ 0/1:66,28:40:-37.67,-12.07,-95.70:99 -chr1 792085 rs61768213 G A 0.10 PASS AC=1;AF=0.50;AN=2;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=11.76;MQ=27.41;MQ0=19;OQ=204.34;QD=1.93;SB=-8.44 GT:AD:DP:GL:GQ 0/1:88,18:55:-40.31,-16.60,-140.17:99 -chr1 792094 rs59334306 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=46.76;MQ=26.45;MQ0=20;OQ=280.32;QD=2.64;SB=-7.86 GT:AD:DP:GL:GQ 0/1:75,30:53:-47.28,-15.96,-151.37:99 -chr1 792103 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=0;HaplotypeScore=25.85;MQ=29.18;MQ0=20;OQ=339.53;QD=3.09;SB=-172.66 GT:AD:DP:GL:GQ 0/1:84,26:61:-55.65,-18.41,-142.90:99 -chr1 792163 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=94;Dels=0.02;HRun=3;HaplotypeScore=9.77;MQ=36.34;MQ0=8;OQ=472.25;QD=5.02;SB=-153.68 GT:AD:DP:GL:GQ 0/1:49,43:64:-69.50,-18.99,-156.72:99 -chr1 792183 . G A 7.22 PASS AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=0;HaplotypeScore=4.86;MQ=42.20;MQ0=9;OQ=1359.41;QD=15.27;SB=-245.27 GT:AD:DP:GL:GQ 0/1:36,53:59:-157.01,-17.79,-57.64:99 -chr1 792201 . G A 0.06 PASS AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=43.46;MQ0=8;OQ=234.21;QD=2.47;SB=6.27 GT:AD:DP:GL:GQ 0/1:68,27:69:-47.53,-20.82,-170.85:99 -chr1 792244 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=1;HaplotypeScore=3.46;MQ=47.18;MQ0=4;OQ=75.38;QD=1.05;SB=92.33 GT:AD:DP:GL:GQ 0/1:49,23:53:-26.79,-15.97,-181.50:99 -chr1 793978 rs9725068 G A 105.15 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=25.47;MQ0=13;OQ=1474.93;QD=26.34;SB=-321.42 GT:AD:DP:GL:GQ 1/1:0,56:37:-151.09,-11.15,-0.01:99 -chr1 794403 rs11240778 T C 115.53 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=56.32;MQ0=0;OQ=2475.68;QD=30.95;SB=-1150.98 GT:AD:DP:GL:GQ 1/1:0,80:77:-251.22,-23.23,-0.07:99 -chr1 797375 rs10751454 A G 614.93 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=53.93;MQ0=1;OQ=2184.15;QD=34.67;SB=-971.41 GT:AD:DP:GL:GQ 1/1:0,63:61:-222.02,-18.37,-0.02:99 -chr1 797624 rs4951932 C A 532.14 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.69;MQ0=0;OQ=2699.27;QD=36.48;SB=-1270.15 GT:AD:DP:GL:GQ 1/1:0,74:72:-273.52,-21.68,-0.01:99 -chr1 798086 rs4951933 G C 74.24 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=48.23;MQ0=3;OQ=1918.57;QD=25.24;SB=-881.14 GT:AD:DP:GL:GQ 1/1:5,71:54:-198.81,-16.33,-3.37:99 -chr1 798494 rs11240779 G A 160.91 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=54.32;MQ0=0;OQ=2346.63;QD=37.85;SB=-859.15 GT:AD:DP:GL:GQ 1/1:0,62:60:-238.27,-18.08,-0.02:99 -chr1 798785 rs6594027 G A 211.91 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=43.75;MQ0=6;OQ=1743.42;QD=29.06;SB=-625.73 GT:AD:DP:GL:GQ 1/1:3,57:47:-180.84,-14.16,-2.92:99 -chr1 798791 rs11240780 C T 1.58 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=44.87;MQ0=5;OQ=1874.68;QD=30.73;SB=-625.19 GT:AD:DP:GL:GQ 1/1:3,58:49:-194.73,-14.76,-3.68:99 -chr1 801153 rs6683530 G C 58.35 Indel AC=1;AF=0.50;AN=2;DB;DP=8;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=47.12;MQ0=0;QD=7.29;SB=-48.46 GT:AD:DP:GL:GQ 0/1:3,5:6:-10.93,-1.81,-12.15:91.19 -chr1 801443 . G C 0.04 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=38.48;MQ0=1;OQ=52.85;QD=17.62;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,3:2:-8.69,-0.60,-0.00:6.02 -chr1 801493 . G A 49.74 LowQual AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=43.23;MQ0=0;QD=5.53;SB=-18.25 GT:AD:DP:GL:GQ 0/1:2,4:4:-12.63,-4.37,-6.30:19.25 -chr1 801563 . C G 14.05 LowQual AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=3.71;MQ=42.60;MQ0=0;QD=1.40;SB=-3.98 GT:AD:DP:GL:GQ 0/1:8,2:7:-6.79,-2.12,-21.33:46.71 -chr1 801598 . T C 10.44 PASS AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=49.26;MQ0=0;OQ=130.47;QD=6.21;SB=-25.63 GT:AD:DP:GL:GQ 0/1:13,8:15:-20.85,-4.52,-36.05:99 -chr1 801628 . C T 6.09 PASS AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=52.56;MQ0=0;OQ=245.60;QD=14.45;SB=-39.65 GT:AD:DP:GL:GQ 0/1:7,10:12:-31.46,-3.62,-11.96:83.42 -chr1 802130 rs7541694 A G 69.50 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=3.34;MQ=55.65;MQ0=0;OQ=1955.23;QD=29.18;SB=-933.35 GT:AD:DP:GL:GQ 1/1:0,67:63:-199.17,-19.00,-0.06:99 -chr1 802147 rs7545373 C G 33.64 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=3.57;MQ=55.54;MQ0=0;OQ=2348.31;QD=37.27;SB=-1198.48 GT:AD:DP:GL:GQ 1/1:2,61:60:-246.74,-18.09,-8.33:97.66 -chr1 802165 . G A 18.16 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=3.79;MQ=55.42;MQ0=0;QD=0.31;SB=71.21 GT:AD:DP:GL:GQ 0/1:51,8:51:-20.46,-15.37,-155.58:50.93 -chr1 802175 . C T 26.53 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=55.08;MQ0=0;QD=0.48;SB=56.20 GT:AD:DP:GL:GQ 0/1:46,8:48:-20.39,-14.46,-154.35:59.35 -chr1 802189 . G A 11.38 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.39;MQ=55.49;MQ0=0;QD=0.20;SB=56.19 GT:AD:DP:GL:GQ 0/1:49,8:51:-19.75,-15.37,-163.52:43.89 -chr1 802470 . T C 21.38 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=54.38;MQ0=1;QD=0.34;SB=62.23 GT:AD:DP:GL:GQ 0/1:57,6:59:-23.19,-17.77,-210.98:54.19 -chr1 802488 . G T 29.03 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=53.89;MQ0=1;QD=0.53;SB=65.21 GT:AD:DP:GL:GQ 0/1:49,6:52:-21.85,-15.66,-163.62:61.86 -chr1 802614 rs4246500 T C 405.83 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.84;MQ0=0;OQ=1600.84;QD=34.80;SB=-568.88 GT:AD:DP:GL:GQ 1/1:0,46:45:-163.68,-13.56,-0.02:99 -chr1 803503 rs16973606 A G 11.51 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=2.56;MQ=28.75;MQ0=1;OQ=1669.54;QD=28.30;SB=-566.93 GT:AD:DP:GL:GQ 1/1:0,58:52:-170.59,-15.68,-0.05:99 -chr1 803610 rs4970388 G A 620.03 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=48.63;MQ0=0;OQ=2297.43;QD=38.94;SB=-1171.71 GT:AD:DP:GL:GQ 1/1:0,59:58:-233.34,-17.47,-0.02:99 -chr1 803950 . C A 24.11 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=7.91;MQ=35.01;MQ0=10;QD=0.32;SB=59.14 GT:AD:DP:GL:GQ 0/1:54,21:50:-20.76,-15.06,-152.32:56.93 -chr1 803957 rs61768235 A G 0.17 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=7.75;MQ=34.03;MQ0=10;OQ=322.16;QD=4.30;SB=35.12 GT:AD:DP:GL:GQ 0/1:42,30:47:-49.67,-14.18,-120.05:99 -chr1 803968 . C T 1.63 PASS AC=1;AF=0.50;AN=2;DP=87;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=30.80;MQ0=12;OQ=418.55;QD=4.81;SB=59.13 GT:AD:DP:GL:GQ 0/1:53,34:61:-63.53,-18.39,-146.32:99 -chr1 804010 rs4268301 G C 0.65 PASS AC=1;AF=0.50;AN=2;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=6.53;MQ=32.14;MQ0=12;OQ=1062.36;QD=10.84;SB=53.20 GT:AD:DP:GL:GQ 0/1:43,55:71:-130.91,-21.39,-167.36:99 -chr1 804023 . C G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=2;HaplotypeScore=7.44;MQ=36.24;MQ0=5;OQ=967.44;QD=10.63;SB=62.24 GT:AD:DP:GL:GQ 0/1:48,43:70:-121.12,-21.09,-190.26:99 -chr1 804036 . A T 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=0;HaplotypeScore=7.15;MQ=36.45;MQ0=7;OQ=717.66;QD=8.34;SB=65.21 GT:AD:DP:GL:GQ 0/1:47,38:68:-95.53,-20.48,-155.46:99 -chr1 804078 rs4468103 A G 426.89 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=12.81;MQ=43.94;MQ0=3;QD=5.62;SB=77.26 GT:AD:DP:GL:GQ 0/1:53,23:63:-64.96,-18.98,-178.46:99 -chr1 804080 rs34234497 C A 381.14 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=12.71;MQ=43.70;MQ0=3;QD=4.95;SB=89.27 GT:AD:DP:GL:GQ 0/1:53,24:67:-61.57,-20.18,-178.60:99 -chr1 804083 . C A 27.31 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=0;HaplotypeScore=12.71;MQ=43.58;MQ0=4;QD=0.34;SB=86.24 GT:AD:DP:GL:GQ 0/1:70,11:67:-26.19,-20.18,-214.42:60.14 -chr1 804127 rs4571914 C T 3.06 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=3.93;MQ=47.10;MQ0=4;OQ=2988.66;QD=31.13;SB=-1433.34 GT:AD:DP:GL:GQ 1/1:3,93:75:-302.47,-22.59,-0.02:99 -chr1 804160 . T A 1.44 PASS AC=1;AF=0.50;AN=2;DP=116;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=46.18;MQ0=5;OQ=470.49;QD=4.06;SB=48.91 GT:AD:DP:GL:GQ 0/1:72,44:82:-75.03,-24.70,-237.11:99 -chr1 804163 . T A 0.61 PASS AC=1;AF=0.50;AN=2;DP=116;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=45.72;MQ0=5;OQ=536.43;QD=4.62;SB=45.90 GT:AD:DP:GL:GQ 0/1:71,45:81:-81.32,-24.40,-231.88:99 -chr1 804176 . C T 0.11 PASS AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=42.84;MQ0=5;OQ=284.28;QD=2.41;SB=31.59 GT:AD:DP:GL:GQ 0/1:90,28:84:-57.01,-25.30,-251.94:99 -chr1 804255 rs61768236 C T 415.82 PASS AC=1;AF=0.50;AN=2;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=27.82;MQ0=7;OQ=1235.94;QD=11.44;SB=-464.41 GT:AD:DP:GL:GQ 0/1:49,59:70:-147.96,-21.08,-123.48:99 -chr1 804268 rs61768237 T C 267.05 PASS AC=1;AF=0.50;AN=2;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.38;MQ0=8;OQ=1449.21;QD=11.32;SB=-624.62 GT:AD:DP:GL:GQ 0/1:53,75:88:-174.71,-26.51,-156.34:99 -chr1 804322 . T C 170.65 PASS AC=1;AF=0.50;AN=2;DP=155;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=38.67;MQ0=9;OQ=1734.45;QD=11.19;SB=-540.49 GT:AD:DP:GL:GQ 0/1:72,83:118:-212.27,-35.54,-249.66:99 -chr1 804353 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=129;Dels=0.00;HRun=4;HaplotypeScore=24.21;MQ=44.77;MQ0=2;OQ=299.39;QD=2.32;SB=-27.46 GT:AD:DP:GL:GQ 0/1:106,23:112:-66.96,-33.74,-330.98:99 -chr1 804358 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=115;Dels=0.00;HRun=1;HaplotypeScore=23.14;MQ=46.13;MQ0=0;OQ=958.19;QD=8.33;SB=-257.80 GT:AD:DP:GL:GQ 0/1:68,47:100:-129.23,-30.12,-232.16:99 -chr1 804472 . A T 0.19 PASS AC=1;AF=0.50;AN=2;DP=116;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=48.14;MQ0=4;OQ=798.74;QD=6.89;SB=107.38 GT:AD:DP:GL:GQ 0/1:75,41:98:-112.67,-29.52,-266.53:99 -chr1 804474 . A C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=2;HaplotypeScore=5.00;MQ=47.90;MQ0=4;OQ=704.41;QD=6.18;SB=101.34 GT:AD:DP:GL:GQ 0/1:73,41:96:-102.63,-28.91,-247.09:99 -chr1 804544 . A T 0.11 PASS AC=1;AF=0.50;AN=2;DP=129;Dels=0.00;HRun=0;HaplotypeScore=3.62;MQ=40.45;MQ0=6;OQ=406.04;QD=3.15;SB=95.34 GT:AD:DP:GL:GQ 0/1:99,30:89:-70.69,-26.81,-271.16:99 -chr1 804557 . A C 0.23 PASS AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=0;HaplotypeScore=3.14;MQ=40.10;MQ0=5;OQ=416.51;QD=3.82;SB=86.28 GT:AD:DP:GL:GQ 0/1:65,43:73:-66.93,-21.99,-180.79:99 -chr1 804573 . G A 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=0;HaplotypeScore=8.85;MQ=43.02;MQ0=4;OQ=579.16;QD=6.16;SB=83.29 GT:AD:DP:GL:GQ 0/1:56,38:69:-81.99,-20.79,-176.35:99 -chr1 804594 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=97;Dels=0.00;HRun=0;HaplotypeScore=7.80;MQ=47.78;MQ0=4;OQ=294.82;QD=3.04;SB=104.36 GT:AD:DP:GL:GQ 0/1:66,31:74:-55.06,-22.29,-235.53:99 -chr1 804605 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=101;Dels=0.00;HRun=0;HaplotypeScore=13.95;MQ=49.87;MQ0=3;OQ=284.24;QD=2.81;SB=113.40 GT:AD:DP:GL:GQ 0/1:73,28:82:-56.44,-24.73,-279.54:99 -chr1 804976 . T C 11.87 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=159;Dels=0.00;HRun=0;HaplotypeScore=17.62;MQ=47.74;MQ0=10;QD=0.07;SB=128.44 GT:AD:DP:GL:GQ 0/1:107,52:112:-38.18,-33.74,-401.64:44.42 -chr1 805001 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=241;Dels=0.00;HRun=1;HaplotypeScore=76.93;MQ=42.40;MQ0=12;OQ=1246.68;QD=5.17;SB=146.50 GT:AD:DP:GL:GQ 0/1:129,112:153:-174.09,-46.14,-468.17:99 -chr1 805002 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=243;Dels=0.00;HRun=0;HaplotypeScore=75.93;MQ=42.40;MQ0=13;OQ=1673.16;QD=6.89;SB=-6.76 GT:AD:DP:GL:GQ 0/1:105,138:154:-217.01,-46.41,-335.99:99 -chr1 805021 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=298;Dels=0.00;HRun=1;HaplotypeScore=153.68;MQ=38.48;MQ0=13;OQ=1337.90;QD=4.49;SB=-19.37 GT:AD:DP:GL:GQ 0/1:146,152:156:-184.06,-46.99,-421.14:99 -chr1 805031 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=318;Dels=0.00;HRun=0;HaplotypeScore=207.07;MQ=37.99;MQ0=12;OQ=1684.06;QD=5.30;SB=131.37 GT:AD:DP:GL:GQ 0/1:175,143:165:-221.39,-49.70,-405.98:99 -chr1 805042 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=340;Dels=0.00;HRun=0;HaplotypeScore=155.12;MQ=37.32;MQ0=17;OQ=677.06;QD=1.99;SB=140.48 GT:AD:DP:GL:GQ 0/1:285,55:199:-130.92,-59.93,-605.02:99 -chr1 805044 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=339;Dels=0.00;HRun=1;HaplotypeScore=156.13;MQ=36.94;MQ0=19;OQ=889.27;QD=2.62;SB=-0.09 GT:AD:DP:GL:GQ 0/1:243,95:179:-146.12,-53.91,-499.80:99 -chr1 805060 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=354;Dels=0.00;HRun=0;HaplotypeScore=82.46;MQ=36.20;MQ0=28;OQ=262.53;QD=0.74;SB=131.47 GT:AD:DP:GL:GQ 0/1:269,85:206:-91.58,-62.05,-725.20:99 -chr1 805070 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=335;Dels=0.00;HRun=0;HaplotypeScore=72.27;MQ=36.04;MQ0=29;OQ=243.31;QD=0.73;SB=122.43 GT:AD:DP:GL:GQ 0/1:284,51:196:-86.65,-59.04,-686.22:99 -chr1 805096 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=276;Dels=0.00;HRun=1;HaplotypeScore=49.35;MQ=36.73;MQ0=27;OQ=2126.16;QD=7.70;SB=101.36 GT:AD:DP:GL:GQ 0/1:81,194:152:-261.68,-45.78,-320.28:99 -chr1 805097 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=277;Dels=0.00;HRun=0;HaplotypeScore=50.14;MQ=36.84;MQ0=27;OQ=2166.21;QD=7.82;SB=104.34 GT:AD:DP:GL:GQ 0/1:80,196:153:-269.55,-49.64,-287.57:99 -chr1 805200 . G T 14.62 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=163;Dels=0.00;HRun=0;HaplotypeScore=25.70;MQ=44.88;MQ0=22;QD=0.09;SB=134.45 GT:AD:DP:GL:GQ 0/1:137,26:122:-41.47,-36.74,-399.49:47.31 -chr1 805236 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=139;Dels=0.00;HRun=3;HaplotypeScore=58.62;MQ=48.88;MQ0=19;OQ=385.49;QD=2.77;SB=18.48 GT:AD:DP:GL:GQ 0/1:87,52:105:-73.46,-31.63,-322.22:99 -chr1 805261 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=234;Dels=0.00;HRun=0;HaplotypeScore=375.75;MQ=40.95;MQ0=20;OQ=701.87;QD=3.00;SB=-184.24 GT:AD:DP:GL:GQ 0/1:132,101:136:-114.44,-40.97,-420.32:99 -chr1 805262 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=240;Dels=0.00;HRun=0;HaplotypeScore=355.61;MQ=40.41;MQ0=21;OQ=112.78;QD=0.47;SB=-10.32 GT:AD:DP:GL:GQ 0/1:195,42:136:-62.96,-48.40,-549.49:99 -chr1 805283 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=350;Dels=0.00;HRun=0;HaplotypeScore=86.54;MQ=35.73;MQ0=32;OQ=70.17;QD=0.20;SB=7.66 GT:AD:DP:GL:GQ 0/1:314,35:208:-72.95,-62.65,-681.33:99 -chr1 805284 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=355;Dels=0.00;HRun=0;HaplotypeScore=88.37;MQ=35.41;MQ0=32;OQ=4656.41;QD=13.12;SB=-1324.68 GT:AD:DP:GL:GQ 0/1:83,272:209:-464.64,-62.96,-333.94:99 -chr1 805326 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=520;Dels=0.00;HRun=0;HaplotypeScore=98.56;MQ=31.27;MQ0=33;OQ=692.81;QD=1.33;SB=-240.64 GT:AD:DP:GL:GQ 0/1:439,81:305:-164.43,-91.87,-1058.15:99 -chr1 805332 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=545;Dels=0.00;HRun=2;HaplotypeScore=105.70;MQ=31.02;MQ0=35;OQ=141.69;QD=0.26;SB=-23.90 GT:AD:DP:GL:GQ 0/1:483,62:326:-115.64,-98.18,-1059.59:99 -chr1 805355 . A G 982.52 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=566;Dels=0.00;HRun=0;HaplotypeScore=511.67;MQ=31.08;MQ0=42;QD=1.74;SB=-163.90 GT:AD:DP:GL:GQ 0/1:444,82:337:-230.52,-128.98,-1164.43:99 -chr1 805360 . A G 1795.44 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=565;Dels=0.00;HRun=0;HaplotypeScore=478.07;MQ=31.09;MQ0=46;QD=3.18;SB=-791.73 GT:AD:DP:GL:GQ 0/1:432,132:335:-287.21,-104.38,-1038.16:99 -chr1 805365 . T C 1655.74 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=542;Dels=0.00;HRun=0;HaplotypeScore=449.89;MQ=31.32;MQ0=44;QD=3.05;SB=-765.34 GT:AD:DP:GL:GQ 0/1:385,157:321:-265.54,-96.68,-1024.45:99 -chr1 805383 rs61768238 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=498;Dels=0.00;HRun=3;HaplotypeScore=98.26;MQ=31.16;MQ0=41;OQ=7913.78;QD=15.89;SB=-2299.71 GT:AD:DP:GL:GQ 0/1:75,423:268:-790.38,-80.71,-278.68:99 -chr1 805386 rs61768239 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=483;Dels=0.00;HRun=1;HaplotypeScore=91.10;MQ=31.39;MQ0=41;OQ=3141.51;QD=6.50;SB=-667.16 GT:AD:DP:GL:GQ 0/1:227,256:265:-397.24,-79.81,-626.74:99 -chr1 805419 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=411;Dels=0.00;HRun=1;HaplotypeScore=30.13;MQ=32.93;MQ0=34;OQ=719.57;QD=1.75;SB=-330.57 GT:AD:DP:GL:GQ 0/1:225,186:205:-136.99,-61.75,-686.74:99 -chr1 805436 rs61768240 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=352;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=34.71;MQ0=24;OQ=2408.76;QD=6.84;SB=-1167.64 GT:AD:DP:GL:GQ 0/1:93,259:163:-293.26,-49.10,-323.35:99 -chr1 805464 . T C 90.93 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=252;Dels=0.00;HRun=2;HaplotypeScore=145.78;MQ=37.92;MQ0=13;QD=0.36;SB=50.70 GT:AD:DP:GL:GQ 0/1:218,34:131:-51.84,-39.46,-473.80:99 -chr1 805469 . G A 411.01 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=232;Dels=0.00;HRun=0;HaplotypeScore=129.65;MQ=39.23;MQ0=10;QD=1.77;SB=-144.72 GT:AD:DP:GL:GQ 0/1:163,68:125:-82.03,-37.65,-380.30:99 -chr1 805474 . C T 980.44 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=203;Dels=0.00;HRun=4;HaplotypeScore=70.79;MQ=41.63;MQ0=7;QD=4.83;SB=-326.68 GT:AD:DP:GL:GQ 0/1:87,114:116:-136.29,-34.97,-264.49:99 -chr1 805480 . G T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=196;Dels=0.00;HRun=1;HaplotypeScore=5.97;MQ=42.07;MQ0=5;OQ=803.65;QD=4.10;SB=-259.91 GT:AD:DP:GL:GQ 0/1:87,109:116:-118.58,-34.93,-301.30:99 -chr1 805558 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=180;Dels=0.00;HRun=0;HaplotypeScore=21.59;MQ=45.69;MQ0=3;OQ=812.25;QD=4.51;SB=-279.67 GT:AD:DP:GL:GQ 0/1:110,69:130:-123.67,-39.16,-392.54:99 -chr1 805591 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=218;Dels=0.00;HRun=0;HaplotypeScore=34.23;MQ=41.40;MQ0=5;OQ=1850.17;QD=8.49;SB=-635.41 GT:AD:DP:GL:GQ 0/1:84,134:148:-232.88,-44.58,-338.13:99 -chr1 805603 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=239;Dels=0.00;HRun=0;HaplotypeScore=49.54;MQ=40.33;MQ0=6;OQ=1757.35;QD=7.35;SB=-559.93 GT:AD:DP:GL:GQ 0/1:109,130:154:-225.41,-46.39,-351.31:99 -chr1 805620 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=274;Dels=0.00;HRun=0;HaplotypeScore=50.16;MQ=37.51;MQ0=8;OQ=230.26;QD=0.84;SB=134.91 GT:AD:DP:GL:GQ 0/1:246,28:171:-77.81,-51.50,-552.70:99 -chr1 805666 . G A 1332.87 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=339;Dels=0.00;HRun=0;HaplotypeScore=203.60;MQ=35.75;MQ0=0;QD=3.93;SB=119.41 GT:AD:DP:GL:GQ 0/1:281,58:223:-203.73,-67.16,-610.84:99 -chr1 805667 . T G 1225.05 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=341;Dels=0.00;HRun=2;HaplotypeScore=286.55;MQ=35.76;MQ0=2;QD=3.59;SB=122.41 GT:AD:DP:GL:GQ 0/1:261,66:222:-230.10,-104.31,-623.63:99 -chr1 805699 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=311;Dels=0.00;HRun=0;HaplotypeScore=73.71;MQ=35.76;MQ0=12;OQ=1765.48;QD=5.68;SB=-47.39 GT:AD:DP:GL:GQ 0/1:139,171:182:-234.66,-54.83,-454.10:99 -chr1 805716 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=281;Dels=0.00;HRun=1;HaplotypeScore=131.75;MQ=37.99;MQ0=12;OQ=2170.35;QD=7.72;SB=-121.23 GT:AD:DP:GL:GQ 0/1:87,193:163:-269.41,-49.09,-357.63:99 -chr1 805720 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=282;Dels=0.00;HRun=0;HaplotypeScore=145.61;MQ=38.29;MQ0=13;OQ=527.98;QD=1.87;SB=137.43 GT:AD:DP:GL:GQ 0/1:237,44:165:-105.78,-49.70,-509.42:99 -chr1 805742 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=240;Dels=0.00;HRun=1;HaplotypeScore=47.83;MQ=40.90;MQ0=15;OQ=1225.89;QD=5.11;SB=-296.81 GT:AD:DP:GL:GQ 0/1:97,143:138:-167.44,-41.57,-348.72:99 -chr1 805786 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=181;Dels=0.00;HRun=0;HaplotypeScore=3.15;MQ=44.26;MQ0=7;OQ=155.59;QD=0.86;SB=-81.22 GT:AD:DP:GL:GQ 0/1:95,86:108:-51.37,-32.53,-383.93:99 -chr1 805792 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=175;Dels=0.00;HRun=0;HaplotypeScore=9.50;MQ=44.61;MQ0=6;OQ=192.56;QD=1.10;SB=-88.24 GT:AD:DP:GL:GQ 0/1:93,82:108:-55.07,-32.53,-377.29:99 -chr1 805825 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=165;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=46.58;MQ0=3;OQ=327.36;QD=1.98;SB=-101.34 GT:AD:DP:GL:GQ 0/1:95,70:115:-70.67,-34.65,-378.60:99 -chr1 805831 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=154;Dels=0.00;HRun=0;HaplotypeScore=10.96;MQ=47.14;MQ0=3;OQ=324.94;QD=2.11;SB=-17.64 GT:AD:DP:GL:GQ 0/1:97,57:110:-68.91,-33.13,-331.34:99 -chr1 805897 . G T 104.51 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=142;Dels=0.00;HRun=0;HaplotypeScore=35.45;MQ=51.05;MQ0=2;QD=0.74;SB=119.34 GT:AD:DP:GL:GQ 0/1:121,19:121:-50.18,-36.44,-386.79:99 -chr1 805898 . C A 129.42 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=142;Dels=0.00;HRun=0;HaplotypeScore=35.61;MQ=51.05;MQ0=2;QD=0.91;SB=116.38 GT:AD:DP:GL:GQ 0/1:123,19:121:-52.67,-36.45,-375.35:99 -chr1 805905 . T G 13.51 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=130;Dels=0.00;HRun=0;HaplotypeScore=25.14;MQ=52.44;MQ0=2;QD=0.10;SB=92.42 GT:AD:DP:GL:GQ 0/1:98,32:107:-36.84,-32.23,-356.89:46.15 -chr1 806044 . T G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=182;Dels=0.00;HRun=0;HaplotypeScore=16.71;MQ=40.59;MQ0=35;OQ=921.37;QD=5.06;SB=-438.60 GT:AD:DP:GL:GQ 0/1:71,111:106:-127.34,-31.92,-261.51:99 -chr1 806066 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=250;Dels=0.00;HRun=1;HaplotypeScore=9.43;MQ=37.37;MQ0=38;OQ=287.57;QD=1.15;SB=103.29 GT:AD:DP:GL:GQ 0/1:214,36:146:-76.01,-43.97,-467.77:99 -chr1 806081 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=255;Dels=0.00;HRun=0;HaplotypeScore=39.62;MQ=37.88;MQ0=27;OQ=908.24;QD=3.56;SB=97.71 GT:AD:DP:GL:GQ 0/1:178,77:158:-141.71,-47.60,-556.49:99 -chr1 806157 . T C 806.81 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=215;Dels=0.00;HRun=0;HaplotypeScore=71.06;MQ=40.64;MQ0=4;QD=3.75;SB=110.40 GT:AD:DP:GL:GQ 0/1:92,123:126:-121.92,-37.95,-368.73:99 -chr1 806159 . A C 141.17 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=219;Dels=0.00;HRun=0;HaplotypeScore=72.96;MQ=40.68;MQ0=4;QD=0.64;SB=110.38 GT:AD:DP:GL:GQ 0/1:166,49:128:-59.78,-42.38,-415.09:99 -chr1 806180 . A G 18.74 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=200;Dels=0.00;HRun=0;HaplotypeScore=59.33;MQ=41.65;MQ0=4;QD=0.09;SB=116.41 GT:AD:DP:GL:GQ 0/1:140,60:110:-38.29,-33.13,-408.92:51.52 -chr1 806197 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=201;Dels=0.00;HRun=1;HaplotypeScore=58.42;MQ=43.62;MQ0=5;OQ=190.94;QD=0.95;SB=134.47 GT:AD:DP:GL:GQ 0/1:110,91:116:-57.32,-34.94,-409.71:99 -chr1 806222 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=162;Dels=0.00;HRun=4;HaplotypeScore=6.94;MQ=47.96;MQ0=4;OQ=291.81;QD=1.80;SB=146.43 GT:AD:DP:GL:GQ 0/1:98,64:114:-66.80,-34.33,-354.69:99 -chr1 806232 . T A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=151;Dels=0.00;HRun=1;HaplotypeScore=11.98;MQ=49.02;MQ0=3;OQ=233.87;QD=1.55;SB=140.48 GT:AD:DP:GL:GQ 0/1:96,55:110:-59.80,-33.13,-362.79:99 -chr1 806258 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=162;Dels=0.00;HRun=0;HaplotypeScore=10.30;MQ=50.03;MQ0=8;OQ=407.17;QD=2.51;SB=100.40 GT:AD:DP:GL:GQ 0/1:106,56:126:-81.95,-37.95,-384.61:99 -chr1 806268 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=164;Dels=0.00;HRun=1;HaplotypeScore=25.82;MQ=48.78;MQ0=9;OQ=670.14;QD=4.09;SB=84.39 GT:AD:DP:GL:GQ 0/1:109,55:126:-108.24,-37.95,-362.57:99 -chr1 806273 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=170;Dels=0.00;HRun=0;HaplotypeScore=24.82;MQ=48.14;MQ0=9;OQ=549.55;QD=3.23;SB=88.59 GT:AD:DP:GL:GQ 0/1:119,51:130:-97.39,-39.15,-372.33:99 -chr1 806316 . T G 0.95 PASS AC=1;AF=0.50;AN=2;DP=225;Dels=0.00;HRun=0;HaplotypeScore=6.00;MQ=41.01;MQ0=11;OQ=1685.25;QD=7.49;SB=-248.74 GT:AD:DP:GL:GQ 0/1:86,139:148:-216.38,-44.57,-322.16:99 -chr1 806332 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=267;Dels=0.00;HRun=0;HaplotypeScore=118.47;MQ=40.66;MQ0=10;OQ=669.93;QD=2.51;SB=-242.01 GT:AD:DP:GL:GQ 0/1:204,61:176:-123.31,-53.03,-632.31:99 -chr1 806338 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=266;Dels=0.00;HRun=0;HaplotypeScore=122.42;MQ=40.64;MQ0=8;OQ=2439.01;QD=9.17;SB=-856.79 GT:AD:DP:GL:GQ 0/1:98,144:180:-333.38,-86.20,-389.89:99 -chr1 806349 . G A 3132.30 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=280;Dels=0.07;HRun=0;HaplotypeScore=186.48;MQ=39.25;MQ0=4;QD=11.19;SB=-1153.15 GT:AD:DP:GL:GQ 0/1:91,170:182:-371.34,-54.83,-329.61:99 -chr1 806378 rs61768241 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=371;Dels=0.00;HRun=0;HaplotypeScore=37.20;MQ=35.74;MQ0=10;OQ=1136.07;QD=3.06;SB=-392.71 GT:AD:DP:GL:GQ 0/1:284,87:244:-190.38,-73.49,-742.15:99 -chr1 806405 . A T 171.83 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=402;Dels=0.02;HRun=5;HaplotypeScore=383.28;MQ=34.90;MQ0=14;QD=0.43;SB=-100.81 GT:AD:DP:GL:GQ 0/1:350,43:240:-91.25,-70.78,-803.92:99 -chr1 806411 . A T 5745.19 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=405;Dels=0.00;HRun=5;HaplotypeScore=552.66;MQ=35.31;MQ0=14;QD=14.19;SB=-2306.85 GT:AD:DP:GL:GQ 0/1:102,301:243:-573.52,-72.58,-344.41:99 -chr1 806412 . A T 2395.75 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=407;Dels=0.00;HRun=0;HaplotypeScore=506.57;MQ=35.27;MQ0=14;QD=5.89;SB=-1049.34 GT:AD:DP:GL:GQ 0/1:219,186:244:-315.74,-72.89,-600.57:99 -chr1 806419 . G T 930.64 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=433;Dels=0.00;HRun=4;HaplotypeScore=220.68;MQ=34.42;MQ0=17;QD=2.15;SB=-419.01 GT:AD:DP:GL:GQ 0/1:342,91:258:-174.05,-77.70,-758.54:99 -chr1 806424 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=450;Dels=0.00;HRun=4;HaplotypeScore=249.41;MQ=33.94;MQ0=20;OQ=971.28;QD=2.16;SB=-437.51 GT:AD:DP:GL:GQ 0/1:358,92:263:-179.62,-79.21,-806.78:99 -chr1 806430 rs61768242 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=441;Dels=0.01;HRun=1;HaplotypeScore=160.65;MQ=34.18;MQ0=22;OQ=1511.20;QD=3.43;SB=-624.36 GT:AD:DP:GL:GQ 0/1:304,134:257:-231.81,-77.41,-730.64:99 -chr1 806460 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=368;Dels=0.01;HRun=0;HaplotypeScore=18.13;MQ=35.78;MQ0=21;OQ=826.67;QD=2.25;SB=-89.07 GT:AD:DP:GL:GQ 0/1:306,59:217:-150.70,-64.75,-660.76:99 -chr1 806471 . C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=290;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=38.11;MQ0=12;OQ=2295.87;QD=7.92;SB=-836.85 GT:AD:DP:GL:GQ 0/1:88,202:166:-282.86,-49.99,-314.28:99 -chr1 806472 . T G 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=284;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=38.55;MQ0=12;OQ=2108.07;QD=7.42;SB=-683.52 GT:AD:DP:GL:GQ 0/1:91,193:165:-263.78,-49.69,-338.75:99 -chr1 806498 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=207;Dels=0.00;HRun=2;HaplotypeScore=28.30;MQ=42.69;MQ0=9;OQ=436.81;QD=2.11;SB=-20.91 GT:AD:DP:GL:GQ 0/1:161,46:144:-90.38,-43.41,-400.65:99 -chr1 806543 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=195;Dels=0.00;HRun=1;HaplotypeScore=100.50;MQ=43.92;MQ0=14;OQ=975.93;QD=5.00;SB=-107.11 GT:AD:DP:GL:GQ 0/1:89,101:124:-149.49,-48.61,-281.82:99 -chr1 806545 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=211;Dels=0.00;HRun=0;HaplotypeScore=104.33;MQ=43.14;MQ0=16;OQ=1451.12;QD=6.88;SB=-262.10 GT:AD:DP:GL:GQ 0/1:103,108:137:-189.66,-41.27,-324.56:99 -chr1 806559 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=338;Dels=0.00;HRun=5;HaplotypeScore=96.33;MQ=38.72;MQ0=24;OQ=1155.72;QD=3.42;SB=-374.82 GT:AD:DP:GL:GQ 0/1:243,83:209:-199.57,-80.72,-560.52:99 -chr1 806579 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=382;Dels=0.00;HRun=0;HaplotypeScore=77.21;MQ=36.57;MQ0=25;OQ=319.95;QD=0.84;SB=31.35 GT:AD:DP:GL:GQ 0/1:306,63:241:-152.76,-117.48,-790.42:99 -chr1 806588 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=408;Dels=0.00;HRun=0;HaplotypeScore=158.67;MQ=35.58;MQ0=25;OQ=4390.20;QD=10.76;SB=-833.37 GT:AD:DP:GL:GQ 0/1:156,252:245:-438.02,-73.80,-510.93:99 -chr1 806591 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=423;Dels=0.00;HRun=0;HaplotypeScore=153.73;MQ=35.14;MQ0=25;OQ=116.80;QD=0.28;SB=22.12 GT:AD:DP:GL:GQ 0/1:359,64:250:-90.26,-75.29,-922.92:99 -chr1 806599 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=465;Dels=0.00;HRun=3;HaplotypeScore=92.78;MQ=34.88;MQ0=25;OQ=533.96;QD=1.15;SB=-62.62 GT:AD:DP:GL:GQ 0/1:398,67:259:-134.68,-78.00,-790.36:99 -chr1 806614 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=552;Dels=0.00;HRun=4;HaplotypeScore=128.97;MQ=33.43;MQ0=27;OQ=171.34;QD=0.31;SB=81.53 GT:AD:DP:GL:GQ 0/1:512,39:328:-122.57,-102.16,-1083.77:99 -chr1 806616 . A C 48.77 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=560;Dels=0.00;HRun=0;HaplotypeScore=145.79;MQ=33.35;MQ0=27;QD=0.09;SB=125.19 GT:AD:DP:GL:GQ 0/1:521,38:333:-108.15,-99.99,-1104.08:81.61 -chr1 806647 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=500;Dels=0.00;HRun=1;HaplotypeScore=106.37;MQ=33.16;MQ0=15;OQ=6479.54;QD=12.96;SB=-2653.75 GT:AD:DP:GL:GQ 0/1:87,413:252:-646.95,-75.89,-317.53:99 -chr1 806652 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=463;Dels=0.00;HRun=0;HaplotypeScore=119.18;MQ=33.47;MQ0=16;OQ=6167.91;QD=13.32;SB=-2596.35 GT:AD:DP:GL:GQ 0/1:76,386:224:-615.79,-67.46,-279.43:99 -chr1 806659 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=412;Dels=0.00;HRun=0;HaplotypeScore=138.09;MQ=33.68;MQ0=14;OQ=4821.66;QD=11.70;SB=-2064.94 GT:AD:DP:GL:GQ 0/1:127,285:208:-481.17,-62.64,-276.81:99 -chr1 806663 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=403;Dels=0.00;HRun=1;HaplotypeScore=116.74;MQ=34.29;MQ0=14;OQ=4902.23;QD=12.16;SB=-2019.44 GT:AD:DP:GL:GQ 0/1:76,327:212:-489.22,-63.85,-279.67:99 -chr1 806698 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=346;Dels=0.00;HRun=0;HaplotypeScore=104.08;MQ=36.06;MQ0=23;OQ=205.16;QD=0.59;SB=41.51 GT:AD:DP:GL:GQ 0/1:305,41:216:-88.85,-65.05,-740.73:99 -chr1 806719 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=212;Dels=0.00;HRun=0;HaplotypeScore=400.08;MQ=40.22;MQ0=20;OQ=582.43;QD=2.75;SB=89.75 GT:AD:DP:GL:GQ 0/1:145,66:134:-101.59,-40.07,-419.05:99 -chr1 806735 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=218;Dels=0.00;HRun=0;HaplotypeScore=24.14;MQ=41.77;MQ0=24;OQ=129.16;QD=0.59;SB=143.49 GT:AD:DP:GL:GQ 0/1:169,49:138:-57.78,-41.58,-482.40:99 -chr1 806755 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=213;Dels=0.00;HRun=0;HaplotypeScore=72.66;MQ=42.05;MQ0=23;OQ=1702.34;QD=7.99;SB=-97.29 GT:AD:DP:GL:GQ 0/1:86,127:148:-218.09,-44.57,-348.93:99 -chr1 806758 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=212;Dels=0.00;HRun=0;HaplotypeScore=66.82;MQ=42.51;MQ0=24;OQ=101.05;QD=0.48;SB=140.48 GT:AD:DP:GL:GQ 0/1:180,31:147:-57.67,-44.28,-533.12:99 -chr1 806774 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=188;Dels=0.00;HRun=0;HaplotypeScore=33.98;MQ=43.76;MQ0=28;OQ=1370.17;QD=7.29;SB=4.43 GT:AD:DP:GL:GQ 0/1:94,94:136:-181.26,-40.96,-326.53:99 -chr1 806807 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=247;Dels=0.00;HRun=1;HaplotypeScore=84.17;MQ=41.43;MQ0=32;OQ=1901.04;QD=7.70;SB=-364.66 GT:AD:DP:GL:GQ 0/1:93,133:161:-255.61,-62.23,-399.73:99 -chr1 806819 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=264;Dels=0.00;HRun=1;HaplotypeScore=51.78;MQ=39.46;MQ0=35;OQ=117.55;QD=0.45;SB=-52.87 GT:AD:DP:GL:GQ 0/1:235,29:167:-65.33,-50.29,-569.53:99 -chr1 806835 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=278;Dels=0.00;HRun=0;HaplotypeScore=24.93;MQ=38.15;MQ0=32;OQ=3184.79;QD=11.46;SB=-1086.54 GT:AD:DP:GL:GQ 0/1:75,203:179:-375.67,-53.91,-276.38:99 -chr1 806857 . A G 426.69 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=388;Dels=0.00;HRun=0;HaplotypeScore=416.26;MQ=36.42;MQ0=33;QD=1.10;SB=-205.00 GT:AD:DP:GL:GQ 0/1:336,52:260:-124.27,-78.32,-915.07:99 -chr1 806858 . A C 2180.12 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=390;Dels=0.00;HRun=1;HaplotypeScore=419.10;MQ=36.36;MQ0=33;QD=5.59;SB=-410.18 GT:AD:DP:GL:GQ 0/1:135,134:259:-523.35,-302.06,-691.29:99 -chr1 806860 . T C 364.40 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=414;Dels=0.02;HRun=1;HaplotypeScore=391.10;MQ=36.35;MQ0=33;QD=0.88;SB=-200.49 GT:AD:DP:GL:GQ 0/1:360,44:277:-126.33,-86.61,-1004.70:99 -chr1 806864 . G A 1874.70 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=430;Dels=0.00;HRun=0;HaplotypeScore=443.75;MQ=36.02;MQ0=32;QD=4.36;SB=-378.35 GT:AD:DP:GL:GQ 0/1:340,90:284:-276.29,-85.54,-766.79:99 -chr1 806872 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=439;Dels=0.00;HRun=3;HaplotypeScore=61.91;MQ=35.95;MQ0=27;OQ=241.94;QD=0.55;SB=-56.85 GT:AD:DP:GL:GQ 0/1:394,45:294:-116.03,-88.55,-994.05:99 -chr1 806914 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=433;Dels=0.00;HRun=1;HaplotypeScore=82.84;MQ=36.13;MQ0=15;OQ=91.45;QD=0.21;SB=145.33 GT:AD:DP:GL:GQ 0/1:380,53:292:-100.38,-87.95,-1073.99:99 -chr1 806929 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=394;Dels=0.00;HRun=1;HaplotypeScore=53.78;MQ=36.16;MQ0=12;OQ=628.62;QD=1.60;SB=165.96 GT:AD:DP:GL:GQ 0/1:300,94:257:-143.55,-77.40,-778.57:99 -chr1 806933 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=384;Dels=0.00;HRun=1;HaplotypeScore=52.56;MQ=36.30;MQ0=13;OQ=624.21;QD=1.63;SB=148.11 GT:AD:DP:GL:GQ 0/1:298,86:253:-141.91,-76.20,-801.85:99 -chr1 807097 rs4970387 A T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=141;Dels=0.00;HRun=4;HaplotypeScore=35.71;MQ=49.47;MQ0=9;OQ=3569.50;QD=25.32;SB=-1647.14 GT:AD:DP:GL:GQ 1/1:0,141:95:-355.95,-28.62,-0.03:99 -chr1 807120 . C T 28.74 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=148;Dels=0.00;HRun=5;HaplotypeScore=8.47;MQ=47.00;MQ0=10;QD=0.19;SB=107.30 GT:AD:DP:GL:GQ 0/1:82,66:90:-33.27,-27.11,-295.41:61.57 -chr1 807127 . C G 240.31 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=149;Dels=0.00;HRun=0;HaplotypeScore=32.57;MQ=46.64;MQ0=10;QD=1.61;SB=107.38 GT:AD:DP:GL:GQ 0/1:80,69:92:-55.04,-27.72,-340.23:99 -chr1 807132 . T C 652.10 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=152;Dels=0.00;HRun=1;HaplotypeScore=41.20;MQ=46.24;MQ0=10;QD=4.29;SB=107.38 GT:AD:DP:GL:GQ 0/1:77,75:102:-99.22,-30.73,-310.86:99 -chr1 807136 . C A 59.03 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=162;Dels=0.00;HRun=2;HaplotypeScore=75.46;MQ=45.64;MQ0=10;QD=0.36;SB=6.21 GT:AD:DP:GL:GQ 0/1:135,27:108:-41.72,-32.53,-330.47:91.87 -chr1 807137 . T G 132.15 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=159;Dels=0.00;HRun=0;HaplotypeScore=74.46;MQ=45.79;MQ0=10;QD=0.83;SB=113.39 GT:AD:DP:GL:GQ 0/1:140,19:114:-50.84,-34.34,-356.98:99 -chr1 807144 . G C 321.19 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=164;Dels=0.00;HRun=0;HaplotypeScore=33.44;MQ=44.89;MQ0=10;QD=1.96;SB=17.66 GT:AD:DP:GL:GQ 0/1:131,27:122:-82.39,-46.99,-445.41:99 -chr1 807168 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=175;Dels=0.00;HRun=0;HaplotypeScore=236.47;MQ=42.45;MQ0=9;OQ=1209.57;QD=6.91;SB=-394.74 GT:AD:DP:GL:GQ 0/1:124,51:131:-163.71,-39.47,-414.74:99 -chr1 807169 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=179;Dels=0.00;HRun=1;HaplotypeScore=262.45;MQ=42.56;MQ0=9;OQ=108.48;QD=0.61;SB=74.80 GT:AD:DP:GL:GQ 0/1:162,17:135:-54.79,-40.66,-456.43:99 -chr1 807188 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=186;Dels=0.01;HRun=8;HaplotypeScore=227.66;MQ=43.88;MQ0=1;OQ=1264.52;QD=6.80;SB=-460.79 GT:AD:DP:GL:GQ 0/1:118,67:149:-174.32,-44.58,-377.47:99 -chr1 807190 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=185;Dels=0.00;HRun=0;HaplotypeScore=246.34;MQ=43.75;MQ0=1;OQ=529.31;QD=2.86;SB=137.46 GT:AD:DP:GL:GQ 0/1:148,37:145:-99.89,-43.67,-443.33:99 -chr1 807204 . A C 36.37 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=188;Dels=0.00;HRun=0;HaplotypeScore=12.98;MQ=42.45;MQ0=6;QD=0.19;SB=109.90 GT:AD:DP:GL:GQ 0/1:167,21:153:-53.00,-46.08,-519.54:69.21 -chr1 807245 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=165;Dels=0.00;HRun=1;HaplotypeScore=17.90;MQ=38.97;MQ0=18;OQ=1145.58;QD=6.94;SB=-550.34 GT:AD:DP:GL:GQ 0/1:87,78:121:-154.28,-36.44,-312.35:99 -chr1 807259 . G A 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=152;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=39.36;MQ0=20;OQ=646.71;QD=4.25;SB=-192.93 GT:AD:DP:GL:GQ 0/1:96,56:108:-100.48,-32.53,-300.21:99 -chr1 807350 rs4082611 G A 0.14 PASS AC=1;AF=0.50;AN=2;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=9.97;MQ=44.42;MQ0=8;OQ=866.67;QD=5.70;SB=98.31 GT:AD:DP:GL:GQ 0/1:80,69:106:-125.51,-35.56,-282.07:99 -chr1 807353 . C A 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=159;Dels=0.00;HRun=0;HaplotypeScore=8.92;MQ=43.77;MQ0=8;OQ=867.33;QD=5.45;SB=95.29 GT:AD:DP:GL:GQ 0/1:76,83:108:-122.54,-32.52,-265.26:99 -chr1 807384 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=204;Dels=0.00;HRun=0;HaplotypeScore=61.52;MQ=40.31;MQ0=13;OQ=503.09;QD=2.47;SB=116.39 GT:AD:DP:GL:GQ 0/1:145,57:132:-93.37,-39.78,-338.75:99 -chr1 807385 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=203;Dels=0.00;HRun=1;HaplotypeScore=61.52;MQ=40.32;MQ0=13;OQ=1779.01;QD=8.76;SB=73.73 GT:AD:DP:GL:GQ 0/1:76,126:131:-220.64,-39.46,-278.09:99 -chr1 807400 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=243;Dels=0.00;HRun=1;HaplotypeScore=26.31;MQ=38.88;MQ0=12;OQ=2472.80;QD=10.18;SB=76.74 GT:AD:DP:GL:GQ 0/1:81,162:155:-297.25,-46.69,-297.33:99 -chr1 807412 rs4082610 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=262;Dels=0.00;HRun=4;HaplotypeScore=30.19;MQ=38.31;MQ0=9;OQ=2516.42;QD=9.60;SB=119.38 GT:AD:DP:GL:GQ 0/1:109,153:168:-305.53,-50.60,-311.50:99 -chr1 807432 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=262;Dels=0.00;HRun=0;HaplotypeScore=25.55;MQ=38.32;MQ0=6;OQ=4433.84;QD=16.92;SB=-160.81 GT:AD:DP:GL:GQ 0/1:80,182:176:-442.38,-53.03,-343.20:99 -chr1 807469 . C T 416.75 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=210;Dels=0.00;HRun=0;HaplotypeScore=92.28;MQ=41.14;MQ0=1;QD=1.98;SB=-49.34 GT:AD:DP:GL:GQ 0/1:84,126:97:-74.18,-29.22,-280.73:99 -chr1 807471 . A C 318.15 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=213;Dels=0.00;HRun=2;HaplotypeScore=90.45;MQ=41.29;MQ0=1;QD=1.49;SB=-31.35 GT:AD:DP:GL:GQ 0/1:85,128:99:-64.91,-29.81,-297.50:99 -chr1 807475 . C T 356.15 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=213;Dels=0.00;HRun=0;HaplotypeScore=174.77;MQ=40.93;MQ0=2;QD=1.67;SB=-36.29 GT:AD:DP:GL:GQ 0/1:85,128:101:-69.35,-30.45,-273.00:99 -chr1 807484 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=215;Dels=0.00;HRun=1;HaplotypeScore=266.19;MQ=40.31;MQ0=2;OQ=100.09;QD=0.47;SB=95.09 GT:AD:DP:GL:GQ 0/1:168,47:127:-51.55,-38.26,-450.15:99 -chr1 807508 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=185;Dels=0.00;HRun=1;HaplotypeScore=7.00;MQ=41.28;MQ0=4;OQ=211.72;QD=1.14;SB=90.69 GT:AD:DP:GL:GQ 0/1:142,43:119:-60.30,-35.84,-379.49:99 -chr1 807527 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=161;Dels=0.00;HRun=2;HaplotypeScore=9.95;MQ=41.68;MQ0=7;OQ=177.85;QD=1.10;SB=146.44 GT:AD:DP:GL:GQ 0/1:119,42:108:-53.60,-32.53,-346.10:99 -chr1 807556 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=137;Dels=0.00;HRun=1;HaplotypeScore=66.91;MQ=41.77;MQ0=6;OQ=532.40;QD=3.89;SB=-236.01 GT:AD:DP:GL:GQ 0/1:68,69:85:-82.13,-25.60,-230.23:99 -chr1 807561 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=140;Dels=0.00;HRun=0;HaplotypeScore=70.93;MQ=41.65;MQ0=7;OQ=124.65;QD=0.89;SB=101.32 GT:AD:DP:GL:GQ 0/1:96,44:87:-41.95,-26.20,-282.69:99 -chr1 807571 rs34106744 T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=135;Dels=0.00;HRun=3;HaplotypeScore=33.63;MQ=41.31;MQ0=9;OQ=377.46;QD=2.80;SB=-157.65 GT:AD:DP:GL:GQ 0/1:62,73:80:-65.12,-24.09,-230.06:99 -chr1 807588 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=164;Dels=0.00;HRun=0;HaplotypeScore=29.86;MQ=39.35;MQ0=12;OQ=1527.96;QD=9.32;SB=-255.65 GT:AD:DP:GL:GQ 0/1:60,104:105:-187.72,-31.65,-191.88:99 -chr1 807611 . G C 0.98 PASS AC=1;AF=0.50;AN=2;DP=168;Dels=0.00;HRun=0;HaplotypeScore=7.78;MQ=38.64;MQ0=13;OQ=1984.90;QD=11.81;SB=-213.08 GT:AD:DP:GL:GQ 0/1:60,108:111:-235.21,-33.44,-245.33:99 -chr1 807628 . G A 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=194;Dels=0.00;HRun=0;HaplotypeScore=15.09;MQ=38.17;MQ0=13;OQ=1889.96;QD=9.74;SB=-59.93 GT:AD:DP:GL:GQ 0/1:68,126:123:-229.33,-37.05,-239.27:99 -chr1 807662 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=324;Dels=0.00;HRun=0;HaplotypeScore=5.25;MQ=35.02;MQ0=24;OQ=5029.36;QD=15.52;SB=-1355.57 GT:AD:DP:GL:GQ 0/1:79,245:206:-501.94,-62.04,-299.38:99 -chr1 807698 rs61768243 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=413;Dels=0.00;HRun=1;HaplotypeScore=119.83;MQ=33.65;MQ0=41;OQ=7356.92;QD=17.81;SB=-2911.42 GT:AD:DP:GL:GQ 0/1:85,328:252:-734.69,-75.92,-368.28:99 -chr1 807726 rs61768244 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=451;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=33.55;MQ0=36;OQ=2315.76;QD=5.13;SB=-928.19 GT:AD:DP:GL:GQ 0/1:303,148:263:-314.08,-79.22,-727.35:99 -chr1 807759 rs4034377 A C 755.20 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=336;Dels=0.00;HRun=0;HaplotypeScore=236.06;MQ=33.74;MQ0=39;QD=2.25;SB=-109.97 GT:AD:DP:GL:GQ 0/1:260,76:175:-131.50,-52.70,-521.92:99 -chr1 807761 . A G 2451.79 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=328;Dels=0.00;HRun=0;HaplotypeScore=310.08;MQ=33.84;MQ0=39;QD=7.47;SB=-739.45 GT:AD:DP:GL:GQ 0/1:164,163:171:-299.96,-51.50,-359.62:99 -chr1 807766 rs3969819 A C 564.07 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=320;Dels=0.00;HRun=0;HaplotypeScore=284.38;MQ=33.76;MQ0=45;QD=1.76;SB=-303.05 GT:AD:DP:GL:GQ 0/1:266,53:164:-109.08,-49.39,-509.36:99 -chr1 807787 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=301;Dels=0.00;HRun=1;HaplotypeScore=10.94;MQ=35.09;MQ0=34;OQ=678.04;QD=2.25;SB=50.87 GT:AD:DP:GL:GQ 0/1:179,122:124:-108.43,-37.34,-358.12:99 -chr1 807799 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=330;Dels=0.00;HRun=1;HaplotypeScore=46.01;MQ=35.31;MQ0=34;OQ=1300.39;QD=3.94;SB=-358.87 GT:AD:DP:GL:GQ 0/1:191,139:161:-181.81,-48.48,-410.83:99 -chr1 807817 rs4034379 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=305;Dels=0.00;HRun=0;HaplotypeScore=40.59;MQ=36.43;MQ0=47;OQ=1097.69;QD=3.60;SB=-508.19 GT:AD:DP:GL:GQ 0/1:205,100:154:-159.44,-46.39,-521.49:99 -chr1 807831 rs4034380 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=324;Dels=0.00;HRun=0;HaplotypeScore=53.25;MQ=36.07;MQ0=54;OQ=860.18;QD=2.65;SB=-52.35 GT:AD:DP:GL:GQ 0/1:235,89:165:-139.00,-49.70,-477.57:99 -chr1 807843 rs61768247 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=340;Dels=0.00;HRun=3;HaplotypeScore=25.24;MQ=35.61;MQ0=59;OQ=2917.98;QD=8.58;SB=-1176.92 GT:AD:DP:GL:GQ 0/1:93,247:179:-348.99,-53.91,-340.62:99 -chr1 807878 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=340;Dels=0.00;HRun=3;HaplotypeScore=1.68;MQ=33.99;MQ0=59;OQ=2636.13;QD=7.75;SB=-1148.59 GT:AD:DP:GL:GQ 0/1:141,199:182:-321.71,-54.82,-379.20:99 -chr1 807900 rs61768248 A G 107.46 PASS AC=1;AF=0.50;AN=2;DB;DP=254;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=36.51;MQ0=52;OQ=2423.92;QD=9.54;SB=-510.71 GT:AD:DP:GL:GQ 0/1:72,182:155:-292.36,-46.69,-288.83:99 -chr1 807921 rs4034381 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=52.91;MQ=37.12;MQ0=38;OQ=730.38;QD=3.07;SB=87.15 GT:AD:DP:GL:GQ 0/1:169,69:152:-122.12,-45.80,-464.61:99 -chr1 807923 rs2311679 T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=238;Dels=0.00;HRun=1;HaplotypeScore=53.91;MQ=36.90;MQ0=37;OQ=150.90;QD=0.63;SB=114.49 GT:AD:DP:GL:GQ 0/1:205,33:149:-63.25,-44.87,-483.89:99 -chr1 807940 rs61768249 C T 132.32 PASS AC=1;AF=0.50;AN=2;DB;DP=201;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=39.52;MQ0=18;OQ=2365.28;QD=11.77;SB=-227.57 GT:AD:DP:GL:GQ 0/1:70,131:135:-280.47,-40.66,-242.20:99 -chr1 807969 . G T 0.34 PASS AC=1;AF=0.50;AN=2;DP=201;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=40.13;MQ0=16;OQ=852.49;QD=4.24;SB=25.59 GT:AD:DP:GL:GQ 0/1:139,62:138:-130.10,-41.57,-369.51:99 -chr1 807986 . G A 410.65 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=191;Dels=0.00;HRun=0;HaplotypeScore=37.75;MQ=40.61;MQ0=11;QD=2.15;SB=32.93 GT:AD:DP:GL:GQ 0/1:73,117:91:-71.78,-27.44,-235.41:99 -chr1 807989 . A G 41.79 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=175;Dels=0.00;HRun=1;HaplotypeScore=63.74;MQ=41.32;MQ0=11;QD=0.24;SB=71.44 GT:AD:DP:GL:GQ 0/1:71,104:80:-31.56,-24.09,-295.20:74.62 -chr1 807990 . G T 63.48 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=175;Dels=0.00;HRun=1;HaplotypeScore=63.74;MQ=41.32;MQ0=11;QD=0.36;SB=71.41 GT:AD:DP:GL:GQ 0/1:71,104:79:-33.42,-23.79,-250.10:96.32 -chr1 808001 rs2311681 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=145.95;MQ=39.96;MQ0=12;OQ=189.55;QD=1.02;SB=-28.87 GT:AD:DP:GL:GQ 0/1:68,100:81:-53.53,-31.29,-271.83:99 -chr1 808002 . C T 30.08 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=188;Dels=0.00;HRun=1;HaplotypeScore=147.95;MQ=39.81;MQ0=12;QD=0.16;SB=5.97 GT:AD:DP:GL:GQ 0/1:124,64:83:-31.29,-25.00,-266.30:62.91 -chr1 808027 rs3969820 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=57.38;MQ=38.17;MQ0=19;OQ=723.18;QD=4.06;SB=-165.45 GT:AD:DP:GL:GQ 0/1:134,44:108:-108.14,-32.53,-287.08:99 -chr1 808030 . A G 1086.71 DPFilter;HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=167;Dels=0.00;HRun=0;HaplotypeScore=42.92;MQ=38.47;MQ0=18;QD=6.51;SB=-568.31 GT:AD:DP:GL:GQ 0/1:57,109:99:-141.80,-29.84,-220.97:99 -chr1 808043 . A G 970.86 DPFilter;HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=159;Dels=0.00;HRun=1;HaplotypeScore=39.52;MQ=39.24;MQ0=20;QD=6.11;SB=-490.82 GT:AD:DP:GL:GQ 0/1:58,101:92:-128.08,-27.71,-229.15:99 -chr1 808058 rs4068670 A G 19.55 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=41.67;MQ=39.19;MQ0=26;QD=0.13;SB=-33.62 GT:AD:DP:GL:GQ 0/1:54,74:61:-37.68,-32.44,-211.21:52.34 -chr1 808064 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=133;Dels=0.00;HRun=1;HaplotypeScore=40.55;MQ=38.61;MQ0=24;OQ=246.33;QD=1.85;SB=-81.77 GT:AD:DP:GL:GQ 0/1:48,85:54:-44.19,-16.27,-162.59:99 -chr1 808071 . C T 20.12 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=136;Dels=0.00;HRun=0;HaplotypeScore=40.24;MQ=40.16;MQ0=22;QD=0.15;SB=14.54 GT:AD:DP:GL:GQ 0/1:54,82:58:-22.76,-17.47,-182.75:52.91 -chr1 808112 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=227;Dels=0.00;HRun=2;HaplotypeScore=125.36;MQ=37.91;MQ0=32;OQ=1776.62;QD=7.83;SB=-160.46 GT:AD:DP:GL:GQ 0/1:73,153:125:-218.60,-37.66,-274.51:99 -chr1 808131 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=257;Dels=0.00;HRun=1;HaplotypeScore=46.49;MQ=37.72;MQ0=22;OQ=2127.72;QD=8.28;SB=-282.13 GT:AD:DP:GL:GQ 0/1:106,150:146:-260.04,-43.99,-307.83:99 -chr1 808143 rs2871830 A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=266;Dels=0.00;HRun=0;HaplotypeScore=22.61;MQ=37.96;MQ0=21;OQ=255.61;QD=0.96;SB=23.44 GT:AD:DP:GL:GQ 0/1:214,51:151:-74.35,-45.50,-504.23:99 -chr1 808170 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=251;Dels=0.00;HRun=1;HaplotypeScore=39.92;MQ=39.75;MQ0=13;OQ=386.02;QD=1.54;SB=116.39 GT:AD:DP:GL:GQ 0/1:201,50:155:-88.58,-46.69,-468.07:99 -chr1 808187 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=220;Dels=0.00;HRun=7;HaplotypeScore=162.06;MQ=41.27;MQ0=11;OQ=363.00;QD=1.65;SB=17.72 GT:AD:DP:GL:GQ 0/1:176,44:136:-80.56,-40.98,-399.39:99 -chr1 808189 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=216;Dels=0.00;HRun=0;HaplotypeScore=288.29;MQ=41.39;MQ0=11;OQ=708.25;QD=3.28;SB=-149.01 GT:AD:DP:GL:GQ 0/1:142,53:138:-146.61,-72.50,-410.59:99 -chr1 808297 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=196;Dels=0.00;HRun=0;HaplotypeScore=21.45;MQ=38.78;MQ0=17;OQ=1228.84;QD=6.27;SB=-563.99 GT:AD:DP:GL:GQ 0/1:75,120:104:-157.52,-31.35,-213.62:99 -chr1 808336 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=282;Dels=0.00;HRun=1;HaplotypeScore=34.12;MQ=34.50;MQ0=28;OQ=414.84;QD=1.47;SB=-185.55 GT:AD:DP:GL:GQ 0/1:228,54:155:-91.47,-46.70,-585.75:99 -chr1 808347 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=278;Dels=0.00;HRun=0;HaplotypeScore=78.29;MQ=34.29;MQ0=30;OQ=600.10;QD=2.16;SB=-67.28 GT:AD:DP:GL:GQ 0/1:221,39:151:-138.41,-75.12,-545.71:99 -chr1 808349 rs61768250 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=274;Dels=0.00;HRun=0;HaplotypeScore=172.09;MQ=34.47;MQ0=30;OQ=2858.46;QD=10.43;SB=-822.44 GT:AD:DP:GL:GQ 0/1:82,190:149:-334.02,-44.89,-232.77:99 -chr1 808359 . C T 950.38 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=269;Dels=0.00;HRun=0;HaplotypeScore=192.43;MQ=34.52;MQ0=31;QD=3.53;SB=-243.11 GT:AD:DP:GL:GQ 0/1:178,83:148:-142.90,-44.58,-399.15:99 -chr1 808362 . G A 76.04 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=271;Dels=0.00;HRun=0;HaplotypeScore=113.80;MQ=34.64;MQ0=30;QD=0.28;SB=96.15 GT:AD:DP:GL:GQ 0/1:234,29:151:-56.37,-45.49,-495.71:99 -chr1 808363 . C A 14.91 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=279;Dels=0.00;HRun=0;HaplotypeScore=113.80;MQ=34.60;MQ0=34;QD=0.05;SB=125.29 GT:AD:DP:GL:GQ 0/1:250,29:157:-52.05,-47.29,-518.11:47.61 -chr1 808367 . G A 731.54 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=290;Dels=0.00;HRun=0;HaplotypeScore=120.25;MQ=34.34;MQ0=33;QD=2.52;SB=-82.29 GT:AD:DP:GL:GQ 0/1:229,61:165:-126.14,-49.70,-491.32:99 -chr1 808394 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=235;Dels=0.00;HRun=0;HaplotypeScore=10.16;MQ=37.74;MQ0=26;OQ=126.55;QD=0.54;SB=56.98 GT:AD:DP:GL:GQ 0/1:188,47:147:-60.25,-44.31,-434.17:99 -chr1 808413 . T G 317.98 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=164;Dels=0.00;HRun=2;HaplotypeScore=72.86;MQ=40.13;MQ0=20;QD=1.94;SB=-24.43 GT:AD:DP:GL:GQ 0/1:121,43:105:-66.71,-31.62,-317.98:99 -chr1 808417 . G A 68.93 DPFilter;HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=149;Dels=0.00;HRun=0;HaplotypeScore=67.03;MQ=42.13;MQ0=16;QD=0.46;SB=83.26 GT:AD:DP:GL:GQ 0/1:135,13:103:-41.21,-31.03,-340.99:99 -chr1 808421 . G A 1042.35 DPFilter;HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=135;Dels=0.00;HRun=0;HaplotypeScore=46.56;MQ=44.72;MQ0=15;QD=7.72;SB=-112.51 GT:AD:DP:GL:GQ 0/1:67,68:99:-137.34,-29.83,-234.94:99 -chr1 808447 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=2;HaplotypeScore=11.26;MQ=49.75;MQ0=9;OQ=392.50;QD=3.54;SB=-21.38 GT:AD:DP:GL:GQ 0/1:71,40:86:-68.46,-25.93,-223.10:99 -chr1 808451 . A T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=112;Dels=0.00;HRun=1;HaplotypeScore=9.78;MQ=50.21;MQ0=9;OQ=368.72;QD=3.29;SB=-63.61 GT:AD:DP:GL:GQ 0/1:73,39:88:-66.66,-26.51,-263.45:99 -chr1 808566 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=181;Dels=0.00;HRun=0;HaplotypeScore=42.07;MQ=40.72;MQ0=9;OQ=262.25;QD=1.45;SB=83.19 GT:AD:DP:GL:GQ 0/1:73,108:86:-55.43,-25.93,-233.09:99 -chr1 808594 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=249;Dels=0.00;HRun=0;HaplotypeScore=18.85;MQ=37.64;MQ0=16;OQ=690.50;QD=2.77;SB=110.37 GT:AD:DP:GL:GQ 0/1:80,169:110:-105.47,-33.14,-280.23:99 -chr1 808641 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=283;Dels=0.00;HRun=1;HaplotypeScore=21.83;MQ=33.64;MQ0=19;OQ=2063.93;QD=7.29;SB=28.04 GT:AD:DP:GL:GQ 0/1:72,211:133:-249.73,-40.06,-265.59:99 -chr1 808664 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=245;Dels=0.00;HRun=1;HaplotypeScore=236.43;MQ=34.77;MQ0=16;OQ=159.51;QD=0.65;SB=12.22 GT:AD:DP:GL:GQ 0/1:197,22:147:-105.83,-86.60,-492.17:99 -chr1 808677 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=233;Dels=0.00;HRun=0;HaplotypeScore=83.64;MQ=35.28;MQ0=11;OQ=206.00;QD=0.88;SB=113.55 GT:AD:DP:GL:GQ 0/1:190,43:144:-67.26,-43.38,-499.53:99 -chr1 808728 . C A 203.60 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=112;Dels=0.00;HRun=1;HaplotypeScore=31.96;MQ=45.04;MQ0=12;QD=1.82;SB=15.39 GT:AD:DP:GL:GQ 0/1:87,25:80:-47.74,-24.10,-238.32:99 -chr1 808731 . C T 444.24 SnpCluster AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=0;HaplotypeScore=24.97;MQ=46.65;MQ0=11;QD=4.04;SB=-165.40 GT:AD:DP:GL:GQ 0/1:69,41:86:-73.64,-25.93,-224.50:99 -chr1 808732 . G A 408.16 SnpCluster AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=0;HaplotypeScore=24.97;MQ=46.65;MQ0=11;QD=3.71;SB=-130.98 GT:AD:DP:GL:GQ 0/1:69,41:85:-69.72,-25.62,-220.30:99 -chr1 808802 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=113;Dels=0.00;HRun=0;HaplotypeScore=47.94;MQ=46.85;MQ0=10;OQ=50.85;QD=0.45;SB=55.37 GT:AD:DP:GL:GQ 0/1:67,39:74:-30.66,-22.29,-262.89:83.69 -chr1 808813 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=143;Dels=0.00;HRun=0;HaplotypeScore=9.12;MQ=42.90;MQ0=8;OQ=68.22;QD=0.48;SB=65.92 GT:AD:DP:GL:GQ 0/1:121,22:85:-35.73,-25.62,-328.85:99 -chr1 808837 . A G 640.03 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=187;Dels=0.00;HRun=0;HaplotypeScore=190.29;MQ=37.94;MQ0=4;QD=3.42;SB=66.67 GT:AD:DP:GL:GQ 0/1:64,123:88:-93.80,-26.51,-252.52:99 -chr1 808839 . G A 725.93 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=188;Dels=0.01;HRun=3;HaplotypeScore=118.63;MQ=37.90;MQ0=4;QD=3.86;SB=63.76 GT:AD:DP:GL:GQ 0/1:65,112:89:-102.68,-26.81,-229.73:99 -chr1 808842 . A G 234.46 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=195;Dels=0.00;HRun=1;HaplotypeScore=215.12;MQ=37.45;MQ0=5;QD=1.20;SB=62.67 GT:AD:DP:GL:GQ 0/1:152,43:87:-52.93,-26.20,-300.50:99 -chr1 808844 . C A 211.39 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=194;Dels=0.00;HRun=1;HaplotypeScore=139.43;MQ=37.30;MQ0=5;QD=1.09;SB=62.33 GT:AD:DP:GL:GQ 0/1:151,43:87:-50.63,-26.20,-257.94:99 -chr1 808878 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=228;Dels=0.00;HRun=0;HaplotypeScore=11.87;MQ=35.54;MQ0=6;OQ=484.59;QD=2.13;SB=67.42 GT:AD:DP:GL:GQ 0/1:69,159:88:-78.25,-26.50,-268.80:99 -chr1 808900 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=211;Dels=0.00;HRun=0;HaplotypeScore=53.01;MQ=34.26;MQ0=7;OQ=319.52;QD=1.51;SB=101.36 GT:AD:DP:GL:GQ 0/1:68,143:78:-58.73,-23.49,-234.89:99 -chr1 808952 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=168;Dels=0.00;HRun=0;HaplotypeScore=8.99;MQ=30.36;MQ0=16;OQ=684.75;QD=4.08;SB=-303.13 GT:AD:DP:GL:GQ 0/1:69,99:91:-99.17,-27.41,-260.34:99 -chr1 808969 rs57185426 C T 0.56 PASS AC=1;AF=0.50;AN=2;DB;DP=167;Dels=0.00;HRun=0;HaplotypeScore=6.98;MQ=27.19;MQ0=22;OQ=1308.35;QD=7.83;SB=-543.36 GT:AD:DP:GL:GQ 0/1:64,103:97:-163.35,-29.23,-183.79:99 -chr1 809028 rs61768251 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=24.74;MQ=37.22;MQ0=19;OQ=1197.89;QD=7.88;SB=-487.91 GT:AD:DP:GL:GQ 0/1:69,83:107:-155.31,-32.23,-252.53:99 -chr1 809058 . T C 0.11 PASS AC=1;AF=0.50;AN=2;DP=102;Dels=0.00;HRun=0;HaplotypeScore=4.46;MQ=47.89;MQ0=8;OQ=300.60;QD=2.95;SB=-111.38 GT:AD:DP:GL:GQ 0/1:71,31:84:-58.65,-25.31,-262.00:99 -chr1 809087 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=145;Dels=0.00;HRun=0;HaplotypeScore=12.78;MQ=44.45;MQ0=38;OQ=174.63;QD=1.20;SB=29.35 GT:AD:DP:GL:GQ 0/1:79,66:90:-47.85,-27.11,-283.45:99 -chr1 809147 . A G 708.22 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=385;Dels=0.00;HRun=0;HaplotypeScore=142.43;MQ=32.08;MQ0=67;QD=1.84;SB=-338.08 GT:AD:DP:GL:GQ 0/1:273,112:167:-124.42,-50.31,-531.00:99 -chr1 809152 . A G 2828.87 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=380;Dels=0.00;HRun=0;HaplotypeScore=142.28;MQ=32.36;MQ0=64;QD=7.44;SB=-821.16 GT:AD:DP:GL:GQ 0/1:76,304:165:-335.87,-49.70,-295.78:99 -chr1 809155 . G A 906.28 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=379;Dels=0.00;HRun=1;HaplotypeScore=107.83;MQ=32.25;MQ0=64;QD=2.39;SB=-437.76 GT:AD:DP:GL:GQ 0/1:271,108:165:-143.61,-49.69,-484.11:99 -chr1 809196 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=249;Dels=0.00;HRun=2;HaplotypeScore=63.80;MQ=34.67;MQ0=22;OQ=1194.90;QD=4.80;SB=-269.68 GT:AD:DP:GL:GQ 0/1:67,182:101:-153.20,-30.42,-236.52:99 -chr1 809260 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=41.08;MQ0=8;OQ=376.66;QD=3.30;SB=116.36 GT:AD:DP:GL:GQ 0/1:80,34:93:-68.96,-28.01,-266.36:99 -chr1 809273 . T C 463.34 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=121;Dels=0.00;HRun=0;HaplotypeScore=8.66;MQ=40.73;MQ0=7;QD=3.83;SB=119.42 GT:AD:DP:GL:GQ 0/1:85,36:100:-79.74,-30.12,-319.61:99 -chr1 809278 . T A 448.40 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=125;Dels=0.00;HRun=0;HaplotypeScore=9.66;MQ=40.70;MQ0=10;QD=3.59;SB=128.40 GT:AD:DP:GL:GQ 0/1:95,30:101:-78.54,-30.42,-301.76:99 -chr1 809279 . C A 472.08 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=127;Dels=0.00;HRun=0;HaplotypeScore=9.66;MQ=40.57;MQ0=10;QD=3.72;SB=128.43 GT:AD:DP:GL:GQ 0/1:97,30:103:-81.51,-31.02,-300.46:99 -chr1 809374 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=126;Dels=0.00;HRun=0;HaplotypeScore=40.85;MQ=49.25;MQ0=14;OQ=274.74;QD=2.18;SB=128.46 GT:AD:DP:GL:GQ 0/1:85,41:95:-59.38,-28.62,-356.10:99 -chr1 809396 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=153;Dels=0.03;HRun=0;HaplotypeScore=81.33;MQ=46.63;MQ0=11;OQ=370.18;QD=2.42;SB=128.42 GT:AD:DP:GL:GQ 0/1:90,59:107:-71.93,-31.63,-311.43:99 -chr1 809418 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=208;Dels=0.00;HRun=0;HaplotypeScore=18.59;MQ=42.45;MQ0=17;OQ=1574.87;QD=7.57;SB=-383.90 GT:AD:DP:GL:GQ 0/1:84,123:141:-203.25,-42.48,-331.17:99 -chr1 809463 . T C 270.15 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=218;Dels=0.00;HRun=0;HaplotypeScore=113.69;MQ=41.23;MQ0=17;QD=1.24;SB=22.33 GT:AD:DP:GL:GQ 0/1:180,37:141:-72.78,-42.48,-486.18:99 -chr1 809466 . G A 91.66 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=213;Dels=0.00;HRun=2;HaplotypeScore=122.84;MQ=41.24;MQ0=16;QD=0.43;SB=110.32 GT:AD:DP:GL:GQ 0/1:181,32:144:-55.83,-43.38,-458.71:99 -chr1 809470 . T C 630.75 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=208;Dels=0.00;HRun=2;HaplotypeScore=238.78;MQ=41.40;MQ0=14;QD=3.03;SB=-114.41 GT:AD:DP:GL:GQ 0/1:153,55:135:-107.03,-40.67,-427.65:99 -chr1 809480 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=183;Dels=0.00;HRun=0;HaplotypeScore=103.82;MQ=41.73;MQ0=11;OQ=1974.03;QD=10.79;SB=-338.07 GT:AD:DP:GL:GQ 0/1:66,116:122:-237.45,-36.76,-206.62:99 -chr1 809721 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=3;HaplotypeScore=9.02;MQ=53.95;MQ0=4;OQ=80.85;QD=0.86;SB=59.35 GT:AD:DP:GL:GQ 0/1:75,18:84:-36.67,-25.30,-283.82:99 -chr1 809780 rs6605057 A G 0.76 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=11.81;MQ=56.13;MQ0=2;OQ=3054.85;QD=32.85;SB=-1362.55 GT:AD:DP:GL:GQ 1/1:0,93:85:-309.09,-25.60,-0.02:99 -chr1 809879 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=195;Dels=0.00;HRun=0;HaplotypeScore=59.97;MQ=40.35;MQ0=14;OQ=622.51;QD=3.19;SB=42.71 GT:AD:DP:GL:GQ 0/1:76,119:98:-95.05,-29.52,-272.29:99 -chr1 809895 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=204;Dels=0.00;HRun=1;HaplotypeScore=66.59;MQ=38.60;MQ0=19;OQ=465.46;QD=2.28;SB=92.30 GT:AD:DP:GL:GQ 0/1:110,94:92:-77.54,-27.71,-254.54:99 -chr1 809906 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=201;Dels=0.00;HRun=0;HaplotypeScore=107.86;MQ=38.19;MQ0=19;OQ=204.28;QD=1.02;SB=98.35 GT:AD:DP:GL:GQ 0/1:163,38:93:-51.72,-28.01,-294.59:99 -chr1 810152 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=142;Dels=0.00;HRun=0;HaplotypeScore=23.45;MQ=46.60;MQ0=18;OQ=256.17;QD=1.80;SB=89.22 GT:AD:DP:GL:GQ 0/1:80,62:93:-56.93,-28.03,-260.32:99 -chr1 810179 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=166;Dels=0.00;HRun=0;HaplotypeScore=40.97;MQ=43.29;MQ0=18;OQ=423.48;QD=2.55;SB=-10.82 GT:AD:DP:GL:GQ 0/1:90,76:99:-75.44,-29.81,-289.52:99 -chr1 810200 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=157;Dels=0.00;HRun=0;HaplotypeScore=91.89;MQ=44.44;MQ0=8;OQ=93.53;QD=0.60;SB=79.37 GT:AD:DP:GL:GQ 0/1:113,44:97:-41.85,-29.21,-309.84:99 -chr1 810211 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=164;Dels=0.00;HRun=3;HaplotypeScore=28.81;MQ=44.83;MQ0=8;OQ=438.48;QD=2.67;SB=-23.86 GT:AD:DP:GL:GQ 0/1:92,72:104:-78.46,-31.33,-303.09:99 -chr1 810249 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=162;Dels=0.00;HRun=0;HaplotypeScore=54.95;MQ=45.56;MQ0=5;OQ=532.92;QD=3.29;SB=-263.19 GT:AD:DP:GL:GQ 0/1:92,70:108:-89.11,-32.53,-336.39:99 -chr1 810266 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=139;Dels=0.00;HRun=0;HaplotypeScore=6.95;MQ=49.31;MQ0=7;OQ=320.58;QD=2.31;SB=3.34 GT:AD:DP:GL:GQ 0/1:87,51:105:-66.97,-31.63,-352.01:99 -chr1 810282 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=142;Dels=0.00;HRun=2;HaplotypeScore=2.11;MQ=50.38;MQ0=7;OQ=214.82;QD=1.51;SB=75.99 GT:AD:DP:GL:GQ 0/1:98,44:111:-58.20,-33.43,-338.53:99 -chr1 810326 . T C 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=51.92;MQ0=10;OQ=89.69;QD=0.81;SB=59.40 GT:AD:DP:GL:GQ 0/1:87,24:95:-40.87,-28.62,-338.92:99 -chr1 810564 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=172;Dels=0.00;HRun=0;HaplotypeScore=14.88;MQ=44.23;MQ0=6;OQ=498.14;QD=2.90;SB=-150.99 GT:AD:DP:GL:GQ 0/1:102,70:118:-88.65,-35.55,-364.99:99 -chr1 810629 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=0;HaplotypeScore=38.71;MQ=50.61;MQ0=2;OQ=253.97;QD=2.29;SB=-143.03 GT:AD:DP:GL:GQ 0/1:83,27:94:-56.99,-28.31,-290.69:99 -chr1 810683 . T C 21.46 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=130;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=45.49;MQ0=13;QD=0.17;SB=104.38 GT:AD:DP:GL:GQ 0/1:80,50:88:-31.93,-26.50,-325.33:54.27 -chr1 810696 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=154;Dels=0.00;HRun=0;HaplotypeScore=34.97;MQ=44.00;MQ0=14;OQ=294.30;QD=1.91;SB=110.32 GT:AD:DP:GL:GQ 0/1:85,69:98:-62.23,-29.52,-298.08:99 -chr1 810711 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=186;Dels=0.00;HRun=0;HaplotypeScore=44.23;MQ=40.46;MQ0=17;OQ=839.07;QD=4.51;SB=107.39 GT:AD:DP:GL:GQ 0/1:81,105:106:-119.13,-31.94,-347.53:99 -chr1 810733 . C A 43.01 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=225;Dels=0.00;HRun=1;HaplotypeScore=56.61;MQ=40.22;MQ0=16;QD=0.19;SB=125.38 GT:AD:DP:GL:GQ 0/1:192,33:131:-47.04,-39.45,-426.81:75.84 -chr1 810794 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=186;Dels=0.00;HRun=3;HaplotypeScore=52.64;MQ=44.21;MQ0=2;OQ=1066.68;QD=5.73;SB=31.06 GT:AD:DP:GL:GQ 0/1:92,94:128:-148.50,-38.55,-332.75:99 -chr1 810798 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=183;Dels=0.00;HRun=0;HaplotypeScore=60.51;MQ=44.84;MQ0=1;OQ=1224.15;QD=6.69;SB=34.50 GT:AD:DP:GL:GQ 0/1:93,90:127:-163.96,-38.27,-393.95:99 -chr1 810830 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=175;Dels=0.00;HRun=3;HaplotypeScore=77.56;MQ=44.23;MQ0=2;OQ=74.26;QD=0.42;SB=98.47 GT:AD:DP:GL:GQ 0/1:145,25:125:-59.06,-48.35,-399.04:99 -chr1 810842 . C G 7.71 PASS AC=1;AF=0.50;AN=2;DP=180;Dels=0.00;HRun=1;HaplotypeScore=2.42;MQ=44.02;MQ0=3;OQ=1687.26;QD=9.37;SB=-373.48 GT:AD:DP:GL:GQ 0/1:84,96:131:-211.48,-39.47,-372.20:99 -chr1 810901 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=142;Dels=0.00;HRun=0;HaplotypeScore=76.75;MQ=45.85;MQ0=4;OQ=1193.00;QD=8.40;SB=-508.15 GT:AD:DP:GL:GQ 0/1:72,70:110:-155.72,-33.14,-263.20:99 -chr1 810906 . T C 38.41 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=133;Dels=0.00;HRun=0;HaplotypeScore=84.75;MQ=46.22;MQ0=3;QD=0.29;SB=-42.29 GT:AD:DP:GL:GQ 0/1:104,29:99:-36.95,-29.82,-359.79:71.24 -chr1 810914 rs2871831 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=29.97;MQ=47.06;MQ0=6;OQ=781.68;QD=6.20;SB=-314.19 GT:AD:DP:GL:GQ 0/1:70,55:96:-110.36,-28.91,-259.38:99 -chr1 810923 . A T 0.10 PASS AC=1;AF=0.50;AN=2;DP=127;Dels=0.00;HRun=1;HaplotypeScore=7.81;MQ=46.94;MQ0=8;OQ=838.41;QD=6.60;SB=-348.34 GT:AD:DP:GL:GQ 0/1:70,57:101:-117.55,-30.42,-266.19:99 -chr1 810974 rs61768253 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=90.96;MQ=39.12;MQ0=31;OQ=376.97;QD=2.37;SB=-131.06 GT:AD:DP:GL:GQ 0/1:90,68:97:-70.20,-29.22,-313.33:99 -chr1 810984 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=207;Dels=0.00;HRun=2;HaplotypeScore=97.32;MQ=34.90;MQ0=35;OQ=108.00;QD=0.52;SB=94.23 GT:AD:DP:GL:GQ 0/1:166,41:109:-46.91,-32.83,-360.50:99 -chr1 810998 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=239;Dels=0.00;HRun=0;HaplotypeScore=73.35;MQ=33.36;MQ0=43;OQ=73.40;QD=0.31;SB=-50.06 GT:AD:DP:GL:GQ 0/1:185,54:123:-47.67,-37.04,-404.38:99 -chr1 811006 rs61768254 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=248;Dels=0.00;HRun=1;HaplotypeScore=66.91;MQ=33.49;MQ0=48;OQ=832.91;QD=3.36;SB=-277.39 GT:AD:DP:GL:GQ 0/1:106,142:128:-125.13,-38.56,-331.35:99 -chr1 811069 rs35186927 T A 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=481;Dels=0.00;HRun=1;HaplotypeScore=3.93;MQ=31.63;MQ0=35;OQ=1139.00;QD=2.37;SB=-237.78 GT:AD:DP:GL:GQ 0/1:346,135:257:-194.59,-77.40,-784.30:99 -chr1 811112 rs2311684 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=350;Dels=0.00;HRun=0;HaplotypeScore=77.41;MQ=35.82;MQ0=8;OQ=2362.85;QD=6.75;SB=-654.92 GT:AD:DP:GL:GQ 0/1:216,134:219:-305.59,-66.02,-466.00:99 -chr1 811131 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=248;Dels=0.00;HRun=0;HaplotypeScore=87.33;MQ=41.16;MQ0=2;OQ=4074.75;QD=16.43;SB=-1430.41 GT:AD:DP:GL:GQ 0/1:100,147:200:-406.47,-62.90,-355.42:99 -chr1 811184 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=2;HaplotypeScore=27.77;MQ=43.71;MQ0=0;OQ=460.52;QD=3.74;SB=149.45 GT:AD:DP:GL:GQ 0/1:91,32:108:-81.87,-32.53,-317.70:99 -chr1 811205 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=115;Dels=0.00;HRun=2;HaplotypeScore=18.01;MQ=44.82;MQ0=0;OQ=329.41;QD=2.86;SB=146.50 GT:AD:DP:GL:GQ 0/1:87,28:104:-67.56,-31.33,-345.48:99 -chr1 811285 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=150;Dels=0.00;HRun=0;HaplotypeScore=37.25;MQ=40.88;MQ0=3;OQ=828.79;QD=5.53;SB=-15.76 GT:AD:DP:GL:GQ 0/1:66,84:93:-114.20,-28.04,-207.99:99 -chr1 811292 . G C 33.11 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=155;Dels=0.00;HRun=1;HaplotypeScore=58.15;MQ=39.23;MQ0=3;QD=0.21;SB=95.35 GT:AD:DP:GL:GQ 0/1:79,14:72:-31.92,-25.33,-286.41:65.95 -chr1 811309 . A C 218.07 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=180;Dels=0.00;HRun=0;HaplotypeScore=95.42;MQ=36.77;MQ0=3;QD=1.21;SB=75.78 GT:AD:DP:GL:GQ 0/1:95,84:77:-48.28,-23.19,-225.41:99 -chr1 811313 . C A 77.35 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=190;Dels=0.00;HRun=1;HaplotypeScore=126.41;MQ=36.87;MQ0=1;QD=0.41;SB=64.94 GT:AD:DP:GL:GQ 0/1:128,61:85:-36.63,-25.61,-260.99:99 -chr1 811315 . G A 900.17 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=189;Dels=0.00;HRun=1;HaplotypeScore=96.44;MQ=36.96;MQ0=1;QD=4.76;SB=64.69 GT:AD:DP:GL:GQ 0/1:57,131:88:-122.19,-28.89,-207.10:99 -chr1 811336 . T C 533.21 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=203;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=37.36;MQ0=1;QD=2.63;SB=59.62 GT:AD:DP:GL:GQ 0/1:62,140:81:-81.01,-24.41,-227.12:99 -chr1 811339 . T C 458.52 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=200;Dels=0.00;HRun=1;HaplotypeScore=44.80;MQ=38.07;MQ0=1;QD=2.29;SB=92.33 GT:AD:DP:GL:GQ 0/1:65,135:85:-74.74,-25.60,-261.77:99 -chr1 811347 . T G 278.98 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=226;Dels=0.00;HRun=3;HaplotypeScore=134.53;MQ=37.01;MQ0=0;QD=1.23;SB=83.27 GT:AD:DP:GL:GQ 0/1:65,161:80:-55.28,-24.10,-233.47:99 -chr1 811354 . C T 677.91 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=233;Dels=0.00;HRun=0;HaplotypeScore=163.01;MQ=36.31;MQ0=0;QD=2.91;SB=83.23 GT:AD:DP:GL:GQ 0/1:63,170:82:-95.80,-24.72,-187.92:99 -chr1 811362 . C T 454.65 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=231;Dels=0.00;HRun=0;HaplotypeScore=226.76;MQ=36.80;MQ0=0;QD=1.97;SB=83.14 GT:AD:DP:GL:GQ 0/1:64,167:80:-72.88,-24.13,-190.51:99 -chr1 811364 . T C 196.31 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=230;Dels=0.00;HRun=1;HaplotypeScore=66.22;MQ=36.51;MQ0=0;QD=0.85;SB=79.92 GT:AD:DP:GL:GQ 0/1:84,145:75:-47.99,-25.07,-244.42:99 -chr1 811375 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=231;Dels=0.00;HRun=0;HaplotypeScore=93.49;MQ=37.41;MQ0=0;OQ=1696.08;QD=7.34;SB=71.11 GT:AD:DP:GL:GQ 0/1:93,137:119:-208.77,-35.88,-209.62:99 -chr1 811378 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=239;Dels=0.00;HRun=1;HaplotypeScore=193.97;MQ=37.86;MQ0=0;OQ=1149.75;QD=4.81;SB=77.23 GT:AD:DP:GL:GQ 0/1:188,51:123:-155.31,-37.05,-314.47:99 -chr1 811386 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=227;Dels=0.00;HRun=2;HaplotypeScore=163.58;MQ=38.25;MQ0=0;OQ=516.99;QD=2.28;SB=29.28 GT:AD:DP:GL:GQ 0/1:149,78:121:-91.43,-36.45,-384.88:99 -chr1 811400 . C T 562.85 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=209;Dels=0.00;HRun=0;HaplotypeScore=151.19;MQ=39.64;MQ0=0;QD=2.69;SB=23.60 GT:AD:DP:GL:GQ 0/1:96,113:102:-90.30,-30.73,-291.44:99 -chr1 811402 . C T 93.97 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=206;Dels=0.00;HRun=1;HaplotypeScore=101.45;MQ=39.46;MQ0=1;QD=0.46;SB=62.16 GT:AD:DP:GL:GQ 0/1:188,18:99:-42.50,-29.82,-326.30:99 -chr1 811408 . G T 250.46 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=192;Dels=0.00;HRun=0;HaplotypeScore=79.23;MQ=40.75;MQ0=2;QD=1.30;SB=59.20 GT:AD:DP:GL:GQ 0/1:111,80:98:-57.85,-29.52,-298.59:99 -chr1 811413 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=188;Dels=0.00;HRun=0;HaplotypeScore=67.52;MQ=40.58;MQ0=2;OQ=77.44;QD=0.41;SB=62.19 GT:AD:DP:GL:GQ 0/1:97,91:86:-36.94,-25.92,-277.54:99 -chr1 811430 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=164;Dels=0.00;HRun=4;HaplotypeScore=58.87;MQ=40.65;MQ0=2;OQ=63.77;QD=0.39;SB=65.24 GT:AD:DP:GL:GQ 0/1:88,76:92:-37.38,-27.72,-324.79:96.61 -chr1 811435 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=155;Dels=0.00;HRun=1;HaplotypeScore=19.26;MQ=40.95;MQ0=1;OQ=266.78;QD=1.72;SB=71.27 GT:AD:DP:GL:GQ 0/1:84,71:100:-60.08,-30.12,-340.43:99 -chr1 811443 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=136;Dels=0.00;HRun=2;HaplotypeScore=30.32;MQ=41.18;MQ0=1;OQ=189.19;QD=1.39;SB=77.28 GT:AD:DP:GL:GQ 0/1:79,56:91:-52.39,-30.19,-304.45:99 -chr1 811635 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=145;Dels=0.00;HRun=0;HaplotypeScore=82.21;MQ=40.79;MQ0=16;OQ=141.45;QD=0.98;SB=-89.35 GT:AD:DP:GL:GQ 0/1:111,34:74:-39.73,-22.30,-281.80:99 -chr1 811650 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=136;Dels=0.00;HRun=0;HaplotypeScore=95.82;MQ=42.47;MQ0=12;OQ=224.58;QD=1.65;SB=-61.36 GT:AD:DP:GL:GQ 0/1:66,70:76:-48.64,-22.89,-228.84:99 -chr1 811656 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=129;Dels=0.00;HRun=0;HaplotypeScore=71.17;MQ=43.15;MQ0=11;OQ=112.09;QD=0.87;SB=-75.98 GT:AD:DP:GL:GQ 0/1:102,27:76:-37.39,-22.90,-238.94:99 -chr1 811750 rs6677354 A G 0.61 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=3;HaplotypeScore=4.05;MQ=50.03;MQ0=0;OQ=1811.37;QD=31.78;SB=-810.16 GT:AD:DP:GL:GQ 1/1:0,56:52:-184.74,-15.66,-0.02:99 -chr1 811789 rs35660652 C G 23.26 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=4.89;MQ=49.27;MQ0=1;OQ=933.21;QD=16.97;SB=-483.19 GT:AD:DP:GL:GQ 0/1:25,30:48:-111.08,-14.47,-94.44:99 -chr1 811811 rs6671445 T C 60.28 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=51.17;MQ0=1;OQ=1096.50;QD=26.11;SB=-519.10 GT:AD:DP:GL:GQ 1/1:0,42:35:-113.27,-10.56,-0.03:99 -chr1 811899 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=0;HaplotypeScore=32.15;MQ=43.49;MQ0=20;OQ=124.06;QD=1.01;SB=92.32 GT:AD:DP:GL:GQ 0/1:62,60:72:-37.38,-21.69,-248.07:99 -chr1 812359 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=1;HaplotypeScore=23.61;MQ=48.84;MQ0=1;OQ=66.32;QD=0.77;SB=71.21 GT:AD:DP:GL:GQ 0/1:52,34:57:-27.09,-17.17,-171.46:99 -chr1 812367 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=0;HaplotypeScore=15.11;MQ=47.39;MQ0=1;OQ=182.54;QD=1.77;SB=-16.56 GT:AD:DP:GL:GQ 0/1:55,46:66:-41.42,-19.89,-213.25:99 -chr1 812395 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=147;Dels=0.00;HRun=0;HaplotypeScore=16.89;MQ=44.59;MQ0=4;OQ=290.02;QD=1.97;SB=-35.46 GT:AD:DP:GL:GQ 0/1:75,71:87:-58.50,-26.21,-278.39:99 -chr1 812396 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=150;Dels=0.00;HRun=0;HaplotypeScore=12.57;MQ=44.24;MQ0=4;OQ=510.01;QD=3.40;SB=-121.97 GT:AD:DP:GL:GQ 0/1:77,73:89:-81.09,-26.81,-250.00:99 -chr1 812452 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=237;Dels=0.00;HRun=1;HaplotypeScore=44.19;MQ=38.30;MQ0=6;OQ=174.18;QD=0.73;SB=140.46 GT:AD:DP:GL:GQ 0/1:178,59:128:-59.25,-38.55,-429.97:99 -chr1 812470 . G A 3027.24 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=266;Dels=0.00;HRun=2;HaplotypeScore=95.67;MQ=37.00;MQ0=5;QD=11.38;SB=-136.01 GT:AD:DP:GL:GQ 0/1:72,177:161:-375.45,-69.45,-279.59:99 -chr1 812474 . A G 225.39 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=282;Dels=0.00;HRun=0;HaplotypeScore=98.08;MQ=36.45;MQ0=4;QD=0.80;SB=107.36 GT:AD:DP:GL:GQ 0/1:225,57:173:-77.95,-52.13,-605.26:99 -chr1 812476 . G A 4194.86 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=280;Dels=0.00;HRun=1;HaplotypeScore=148.97;MQ=36.56;MQ0=4;QD=14.98;SB=-125.96 GT:AD:DP:GL:GQ 0/1:71,208:172:-418.49,-51.81,-254.37:99 -chr1 812496 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=383;Dels=0.00;HRun=3;HaplotypeScore=110.05;MQ=34.24;MQ0=3;OQ=4072.28;QD=10.63;SB=-60.38 GT:AD:DP:GL:GQ 0/1:191,192:229:-406.23,-68.97,-420.64:99 -chr1 812509 . A G 1306.01 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=390;Dels=0.00;HRun=0;HaplotypeScore=338.39;MQ=34.90;MQ0=4;QD=3.35;SB=113.39 GT:AD:DP:GL:GQ 0/1:88,302:134:-174.25,-40.36,-354.14:99 -chr1 812511 . C T 253.04 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=392;Dels=0.00;HRun=1;HaplotypeScore=342.27;MQ=34.93;MQ0=3;QD=0.65;SB=107.37 GT:AD:DP:GL:GQ 0/1:210,181:105:-60.21,-31.62,-326.58:99 -chr1 812536 . C T 6216.93 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=431;Dels=0.00;HRun=0;HaplotypeScore=21.13;MQ=33.82;MQ0=5;QD=14.42;SB=89.30 GT:AD:DP:GL:GQ 0/1:86,345:239:-620.69,-71.99,-300.06:99 -chr1 812546 . A T 6301.61 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=411;Dels=0.00;HRun=5;HaplotypeScore=527.01;MQ=34.23;MQ0=5;QD=15.33;SB=95.32 GT:AD:DP:GL:GQ 0/1:107,219:261:-629.16,-251.98,-546.86:99 -chr1 812557 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=384;Dels=0.00;HRun=0;HaplotypeScore=98.60;MQ=34.24;MQ0=5;OQ=4742.49;QD=12.35;SB=92.31 GT:AD:DP:GL:GQ 0/1:201,182:235:-473.25,-70.78,-414.34:99 -chr1 812581 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=273;Dels=0.00;HRun=0;HaplotypeScore=142.64;MQ=35.76;MQ0=4;OQ=1205.24;QD=4.41;SB=74.26 GT:AD:DP:GL:GQ 0/1:167,71:149:-175.85,-52.04,-375.17:99 -chr1 812582 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=267;Dels=0.00;HRun=0;HaplotypeScore=141.33;MQ=35.99;MQ0=4;OQ=1716.18;QD=6.43;SB=71.26 GT:AD:DP:GL:GQ 0/1:103,164:146:-218.89,-43.99,-346.52:99 -chr1 812608 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=165;Dels=0.00;HRun=1;HaplotypeScore=67.91;MQ=41.17;MQ0=4;OQ=693.18;QD=4.20;SB=50.19 GT:AD:DP:GL:GQ 0/1:102,63:97:-101.82,-29.21,-294.33:99 -chr1 812623 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=0;HaplotypeScore=28.33;MQ=46.60;MQ0=1;OQ=165.38;QD=1.61;SB=41.15 GT:AD:DP:GL:GQ 0/1:59,44:68:-40.30,-20.48,-216.18:99 -chr1 812625 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=106;Dels=0.00;HRun=1;HaplotypeScore=28.33;MQ=46.70;MQ0=1;OQ=134.52;QD=1.27;SB=44.17 GT:AD:DP:GL:GQ 0/1:60,46:69:-37.52,-20.78,-218.11:99 -chr1 812637 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=115;Dels=0.00;HRun=0;HaplotypeScore=37.48;MQ=47.73;MQ0=2;OQ=214.50;QD=1.87;SB=-61.85 GT:AD:DP:GL:GQ 0/1:67,48:77:-47.94,-23.20,-220.91:99 -chr1 812655 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=121;Dels=0.00;HRun=0;HaplotypeScore=33.89;MQ=47.71;MQ0=3;OQ=405.95;QD=3.35;SB=-136.06 GT:AD:DP:GL:GQ 0/1:68,53:87:-70.08,-26.20,-247.74:99 -chr1 812661 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=124;Dels=0.00;HRun=2;HaplotypeScore=21.84;MQ=47.58;MQ0=5;OQ=365.64;QD=2.95;SB=-168.82 GT:AD:DP:GL:GQ 0/1:87,37:88:-66.35,-26.51,-263.64:99 -chr1 812666 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=0;HaplotypeScore=21.15;MQ=47.18;MQ0=5;OQ=451.13;QD=3.67;SB=-190.13 GT:AD:DP:GL:GQ 0/1:65,57:86:-74.30,-25.91,-260.71:99 -chr1 812725 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=137;Dels=0.00;HRun=2;HaplotypeScore=17.99;MQ=47.07;MQ0=7;OQ=51.25;QD=0.37;SB=36.23 GT:AD:DP:GL:GQ 0/1:99,33:95:-37.06,-28.65,-279.36:84.09 -chr1 812740 . T A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=127;Dels=0.00;HRun=2;HaplotypeScore=10.99;MQ=47.57;MQ0=4;OQ=391.52;QD=3.08;SB=-178.55 GT:AD:DP:GL:GQ 0/1:69,58:85:-68.04,-25.60,-259.04:99 -chr1 812742 . A T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=138;Dels=0.00;HRun=1;HaplotypeScore=11.99;MQ=46.41;MQ0=4;OQ=355.87;QD=2.58;SB=-160.38 GT:AD:DP:GL:GQ 0/1:72,66:89:-65.67,-26.80,-277.85:99 -chr1 812772 . C A 4524.81 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=340;Dels=0.00;HRun=1;HaplotypeScore=205.36;MQ=35.68;MQ0=5;QD=13.31;SB=-1151.01 GT:AD:DP:GL:GQ 0/1:83,257:202:-451.48,-60.83,-296.00:99 -chr1 812774 . G A 5465.17 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=359;Dels=0.00;HRun=1;HaplotypeScore=230.04;MQ=35.29;MQ0=5;QD=15.22;SB=-1392.69 GT:AD:DP:GL:GQ 0/1:83,276:217:-545.52,-65.36,-295.35:99 -chr1 812778 . A C 2967.60 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=395;Dels=0.00;HRun=0;HaplotypeScore=217.58;MQ=34.63;MQ0=8;QD=7.51;SB=-725.51 GT:AD:DP:GL:GQ 0/1:219,176:242:-372.92,-72.88,-512.65:99 -chr1 812823 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=734;Dels=0.00;HRun=0;HaplotypeScore=134.36;MQ=30.02;MQ0=41;OQ=617.75;QD=0.84;SB=-157.33 GT:AD:DP:GL:GQ 0/1:653,81:442:-198.19,-133.13,-1425.62:99 -chr1 812838 rs657923 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=716;Dels=0.00;HRun=1;HaplotypeScore=212.74;MQ=29.97;MQ0=41;OQ=1388.92;QD=1.94;SB=-7.94 GT:AD:DP:GL:GQ 0/1:599,117:439:-274.39,-132.21,-1407.52:99 -chr1 812875 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=465;Dels=0.00;HRun=0;HaplotypeScore=110.91;MQ=32.05;MQ0=37;OQ=83.36;QD=0.18;SB=55.37 GT:AD:DP:GL:GQ 0/1:398,67:296:-100.77,-89.15,-980.63:99 -chr1 812885 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=346;Dels=0.00;HRun=1;HaplotypeScore=111.42;MQ=33.27;MQ0=30;OQ=5208.47;QD=15.05;SB=-2233.36 GT:AD:DP:GL:GQ 0/1:69,277:208:-519.85,-62.65,-238.95:99 -chr1 812886 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=335;Dels=0.00;HRun=1;HaplotypeScore=55.46;MQ=33.49;MQ0=30;OQ=451.06;QD=1.35;SB=-154.07 GT:AD:DP:GL:GQ 0/1:302,33:200:-108.62,-60.23,-633.51:99 -chr1 812900 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=183;Dels=0.00;HRun=0;HaplotypeScore=14.94;MQ=39.79;MQ0=13;OQ=813.81;QD=4.45;SB=92.87 GT:AD:DP:GL:GQ 0/1:73,110:100:-114.78,-30.12,-260.13:99 -chr1 812923 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=1;HaplotypeScore=27.88;MQ=50.22;MQ0=2;OQ=306.33;QD=2.95;SB=-30.81 GT:AD:DP:GL:GQ 0/1:70,34:81:-58.31,-24.40,-238.03:99 -chr1 812935 . G A 2.07 PASS AC=1;AF=0.50;AN=2;DP=134;Dels=0.00;HRun=0;HaplotypeScore=2.66;MQ=47.53;MQ0=2;OQ=744.11;QD=5.55;SB=-223.02 GT:AD:DP:GL:GQ 0/1:69,65:96:-106.61,-28.92,-247.13:99 -chr1 812951 . G T 11.25 PASS AC=1;AF=0.50;AN=2;DP=155;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=43.90;MQ0=5;OQ=1351.36;QD=8.72;SB=-400.31 GT:AD:DP:GL:GQ 0/1:63,92:108:-170.95,-32.53,-225.30:99 -chr1 812975 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=199;Dels=0.00;HRun=0;HaplotypeScore=28.65;MQ=40.87;MQ0=15;OQ=1862.55;QD=9.36;SB=-484.23 GT:AD:DP:GL:GQ 0/1:66,132:123:-230.20,-40.66,-212.95:99 -chr1 812981 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=203;Dels=0.00;HRun=1;HaplotypeScore=40.75;MQ=39.82;MQ0=15;OQ=1797.82;QD=8.86;SB=-460.63 GT:AD:DP:GL:GQ 0/1:63,140:120:-219.20,-36.14,-217.08:99 -chr1 812999 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=293;Dels=0.00;HRun=3;HaplotypeScore=112.34;MQ=35.70;MQ0=17;OQ=746.50;QD=2.55;SB=103.46 GT:AD:DP:GL:GQ 0/1:201,92:175:-130.64,-52.71,-522.15:99 -chr1 813018 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=409;Dels=0.00;HRun=4;HaplotypeScore=24.00;MQ=34.51;MQ0=18;OQ=2503.76;QD=6.12;SB=-85.25 GT:AD:DP:GL:GQ 0/1:266,142:285:-339.49,-85.83,-765.92:99 -chr1 813030 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=463;Dels=0.00;HRun=0;HaplotypeScore=48.87;MQ=34.17;MQ0=19;OQ=2316.95;QD=5.00;SB=-56.40 GT:AD:DP:GL:GQ 0/1:312,151:338:-336.77,-101.79,-911.65:99 -chr1 813038 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=491;Dels=0.00;HRun=0;HaplotypeScore=299.82;MQ=33.86;MQ0=19;OQ=574.58;QD=1.17;SB=49.00 GT:AD:DP:GL:GQ 0/1:442,49:363:-170.06,-109.32,-1157.10:99 -chr1 813041 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=493;Dels=0.00;HRun=0;HaplotypeScore=391.76;MQ=34.08;MQ0=19;OQ=10262.92;QD=20.82;SB=-1216.69 GT:AD:DP:GL:GQ 0/1:84,408:369:-1025.29,-114.38,-315.19:99 -chr1 813055 . T G 5105.47 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=534;Dels=0.00;HRun=1;HaplotypeScore=573.54;MQ=33.39;MQ0=15;QD=9.56;SB=-804.21 GT:AD:DP:GL:GQ 0/1:355,179:410:-509.55,-123.48,-999.47:99 -chr1 813070 . G T 1334.14 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=573;Dels=0.00;HRun=1;HaplotypeScore=588.05;MQ=33.10;MQ0=9;QD=2.33;SB=-193.13 GT:AD:DP:GL:GQ 0/1:472,101:440:-269.21,-132.51,-1306.87:99 -chr1 813073 . C G 2805.72 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=592;Dels=0.00;HRun=1;HaplotypeScore=532.94;MQ=33.08;MQ0=8;QD=4.74;SB=-566.71 GT:AD:DP:GL:GQ 0/1:469,123:455:-420.94,-137.09,-1553.33:99 -chr1 813077 . G A 139.61 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=606;Dels=0.00;HRun=1;HaplotypeScore=787.16;MQ=33.34;MQ0=7;QD=0.23;SB=20.29 GT:AD:DP:GL:GQ 0/1:564,42:462:-156.39,-139.14,-1597.16:99 -chr1 813078 . C G 7856.82 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=607;Dels=0.00;HRun=1;HaplotypeScore=894.22;MQ=33.34;MQ0=7;QD=12.94;SB=-567.18 GT:AD:DP:GL:GQ 0/1:367,165:476:-784.68,-363.52,-1514.16:99 -chr1 813086 . C G 6412.49 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=625;Dels=0.00;HRun=0;HaplotypeScore=667.82;MQ=33.46;MQ0=7;QD=10.26;SB=-767.41 GT:AD:DP:GL:GQ 0/1:438,186:509:-640.25,-153.35,-1590.01:99 -chr1 813088 . G A 7116.40 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=627;Dels=0.00;HRun=1;HaplotypeScore=625.87;MQ=33.36;MQ0=7;QD=11.35;SB=-863.76 GT:AD:DP:GL:GQ 0/1:405,186:507:-710.64,-256.24,-1344.66:99 -chr1 813094 . C T 2968.23 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=620;Dels=0.00;HRun=0;HaplotypeScore=211.21;MQ=33.22;MQ0=9;QD=4.79;SB=-1023.50 GT:AD:DP:GL:GQ 0/1:481,139:495:-449.19,-149.09,-1385.37:99 -chr1 813107 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=546;Dels=0.00;HRun=0;HaplotypeScore=55.14;MQ=33.11;MQ0=20;OQ=871.93;QD=1.60;SB=-175.62 GT:AD:DP:GL:GQ 0/1:477,69:368:-201.32,-110.84,-1286.63:99 -chr1 813112 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=540;Dels=0.00;HRun=1;HaplotypeScore=215.40;MQ=33.46;MQ0=24;OQ=633.86;QD=1.17;SB=-102.54 GT:AD:DP:GL:GQ 0/1:489,51:349:-171.78,-105.11,-1109.57:99 -chr1 813120 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=452;Dels=0.00;HRun=0;HaplotypeScore=223.96;MQ=34.07;MQ0=26;OQ=8026.64;QD=17.76;SB=-2723.00 GT:AD:DP:GL:GQ 0/1:104,348:294:-801.66,-88.56,-349.63:99 -chr1 813123 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=449;Dels=0.00;HRun=0;HaplotypeScore=337.04;MQ=33.84;MQ0=28;OQ=7271.87;QD=16.20;SB=-2574.23 GT:AD:DP:GL:GQ 0/1:72,377:266:-726.19,-80.11,-257.87:99 -chr1 813133 . G C 2818.75 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=399;Dels=0.00;HRun=0;HaplotypeScore=373.63;MQ=34.21;MQ0=30;QD=7.06;SB=-1307.24 GT:AD:DP:GL:GQ 0/1:279,119:209:-348.13,-62.97,-562.66:99 -chr1 813135 . A G 6195.50 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=391;Dels=0.00;HRun=0;HaplotypeScore=305.70;MQ=34.41;MQ0=29;QD=15.85;SB=-2650.19 GT:AD:DP:GL:GQ 0/1:69,321:237:-618.55,-71.38,-275.07:99 -chr1 813142 . T C 345.82 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=364;Dels=0.00;HRun=1;HaplotypeScore=286.54;MQ=33.82;MQ0=33;QD=0.95;SB=-108.69 GT:AD:DP:GL:GQ 0/1:317,47:188:-94.49,-56.62,-663.95:99 -chr1 813148 . C A 1435.04 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=349;Dels=0.00;HRun=2;HaplotypeScore=161.77;MQ=34.46;MQ0=34;QD=4.11;SB=-365.32 GT:AD:DP:GL:GQ 0/1:282,67:257:-224.19,-77.40,-705.20:99 -chr1 813156 . T A 297.72 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=308;Dels=0.00;HRun=0;HaplotypeScore=111.01;MQ=35.71;MQ0=35;QD=0.97;SB=9.92 GT:AD:DP:GL:GQ 0/1:276,32:221:-99.61,-66.55,-759.37:99 -chr1 813157 . G C 549.74 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=307;Dels=0.00;HRun=0;HaplotypeScore=111.01;MQ=35.86;MQ0=35;QD=1.79;SB=-210.25 GT:AD:DP:GL:GQ 0/1:247,59:221:-124.85,-66.59,-828.88:99 -chr1 813168 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=254;Dels=0.00;HRun=2;HaplotypeScore=4.86;MQ=37.54;MQ0=37;OQ=984.94;QD=3.88;SB=44.86 GT:AD:DP:GL:GQ 0/1:209,45:173:-153.88,-52.11,-496.83:99 -chr1 813186 . G C 76.25 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=160;Dels=0.00;HRun=0;HaplotypeScore=72.20;MQ=40.71;MQ0=36;QD=0.48;SB=71.95 GT:AD:DP:GL:GQ 0/1:148,12:83:-35.91,-25.01,-332.34:99 -chr1 813187 . A G 513.33 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=147;Dels=0.00;HRun=1;HaplotypeScore=71.20;MQ=41.66;MQ0=35;QD=3.49;SB=-73.38 GT:AD:DP:GL:GQ 0/1:75,50:94:-82.93,-28.31,-287.29:99 -chr1 813188 . C A 79.88 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=146;Dels=0.00;HRun=1;HaplotypeScore=71.20;MQ=41.50;MQ0=35;QD=0.55;SB=44.61 GT:AD:DP:GL:GQ 0/1:120,26:78:-34.77,-23.49,-243.41:99 -chr1 813189 . C A 521.18 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=144;Dels=0.00;HRun=0;HaplotypeScore=67.21;MQ=41.65;MQ0=35;QD=3.62;SB=-1.36 GT:AD:DP:GL:GQ 0/1:108,26:91:-101.37,-45.97,-249.59:99 -chr1 813208 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=124;Dels=0.00;HRun=2;HaplotypeScore=18.83;MQ=43.26;MQ0=23;OQ=418.24;QD=3.37;SB=-54.23 GT:AD:DP:GL:GQ 0/1:61,63:76:-68.00,-22.89,-206.10:99 -chr1 813240 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=154;Dels=0.00;HRun=2;HaplotypeScore=43.28;MQ=41.04;MQ0=25;OQ=943.89;QD=6.13;SB=-68.91 GT:AD:DP:GL:GQ 0/1:64,90:92:-125.38,-27.71,-227.61:99 -chr1 813250 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=195;Dels=0.00;HRun=0;HaplotypeScore=62.53;MQ=37.95;MQ0=22;OQ=226.25;QD=1.16;SB=14.99 GT:AD:DP:GL:GQ 0/1:153,42:96:-54.82,-28.92,-298.56:99 -chr1 813271 . T C 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=249;Dels=0.00;HRun=0;HaplotypeScore=8.46;MQ=34.98;MQ0=19;OQ=1147.61;QD=4.61;SB=-134.40 GT:AD:DP:GL:GQ 0/1:63,186:103:-149.07,-31.02,-256.47:99 -chr1 813292 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=382;Dels=0.00;HRun=2;HaplotypeScore=102.43;MQ=30.92;MQ0=23;OQ=1986.60;QD=5.20;SB=-566.46 GT:AD:DP:GL:GQ 0/1:105,277:133:-242.00,-40.06,-276.00:99 -chr1 813307 . A G 32.13 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=535;Dels=0.00;HRun=0;HaplotypeScore=181.84;MQ=30.25;MQ0=27;QD=0.06;SB=46.55 GT:AD:DP:GL:GQ 0/1:504,31:255:-83.31,-76.81,-935.22:64.97 -chr1 813316 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=619;Dels=0.00;HRun=2;HaplotypeScore=75.11;MQ=29.97;MQ0=27;OQ=3157.81;QD=5.10;SB=-1462.71 GT:AD:DP:GL:GQ 0/1:382,237:331:-418.76,-99.69,-846.79:99 -chr1 813335 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=826;Dels=0.00;HRun=1;HaplotypeScore=136.91;MQ=30.11;MQ0=21;OQ=7119.57;QD=8.62;SB=-2280.77 GT:AD:DP:GL:GQ 0/1:537,288:549:-710.96,-165.36,-1364.58:99 -chr1 813362 . A G 16357.98 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=920;Dels=0.00;HRun=1;HaplotypeScore=446.32;MQ=30.10;MQ0=24;QD=17.78;SB=-5014.09 GT:AD:DP:GL:GQ 0/1:273,494:683:-1634.80,-554.43,-1400.88:99 -chr1 813367 . T C 20902.62 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=914;Dels=0.00;HRun=0;HaplotypeScore=426.41;MQ=30.28;MQ0=24;QD=22.87;SB=-7448.46 GT:AD:DP:GL:GQ 0/1:141,716:687:-2089.26,-358.04,-691.48:99 -chr1 813368 rs13302980 T C 206.93 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=916;Dels=0.00;HRun=0;HaplotypeScore=426.41;MQ=30.25;MQ0=24;QD=0.23;SB=-118.41 GT:AD:DP:GL:GQ 0/1:843,73:685:-230.32,-206.34,-2521.41:99 -chr1 813385 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=888;Dels=0.00;HRun=0;HaplotypeScore=40.71;MQ=30.82;MQ0=25;OQ=1088.75;QD=1.23;SB=-408.14 GT:AD:DP:GL:GQ 0/1:783,105:699:-322.70,-210.54,-2232.26:99 -chr1 813404 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=750;Dels=0.00;HRun=2;HaplotypeScore=134.73;MQ=32.26;MQ0=17;OQ=670.55;QD=0.89;SB=-191.51 GT:AD:DP:GL:GQ 0/1:685,65:613:-254.96,-184.62,-2037.75:99 -chr1 813405 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=741;Dels=0.00;HRun=2;HaplotypeScore=133.74;MQ=32.36;MQ0=17;OQ=1633.92;QD=2.21;SB=-672.01 GT:AD:DP:GL:GQ 0/1:597,144:607:-349.50,-182.82,-2122.95:99 -chr1 813418 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=590;Dels=0.00;HRun=0;HaplotypeScore=47.11;MQ=33.33;MQ0=15;OQ=65.79;QD=0.11;SB=206.84 GT:AD:DP:GL:GQ 0/1:544,46:476:-153.22,-143.35,-1574.37:98.63 -chr1 813443 . T G 3848.11 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=275;Dels=0.00;HRun=0;HaplotypeScore=38.86;MQ=37.99;MQ0=5;QD=13.99;SB=-1241.58 GT:AD:DP:GL:GQ 0/1:79,195:186:-383.81,-56.02,-279.85:99 -chr1 813451 . C T 1033.45 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=197;Dels=0.01;HRun=0;HaplotypeScore=22.13;MQ=41.75;MQ0=4;QD=5.25;SB=-217.95 GT:AD:DP:GL:GQ 0/1:81,115:114:-140.97,-34.34,-279.86:99 -chr1 813452 . A G 765.89 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=186;Dels=0.01;HRun=0;HaplotypeScore=26.12;MQ=42.21;MQ0=4;QD=4.12;SB=-130.38 GT:AD:DP:GL:GQ 0/1:79,106:109:-112.71,-32.84,-316.56:99 -chr1 813514 rs61768255 T A 0.19 PASS AC=1;AF=0.50;AN=2;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=40.18;MQ0=52;OQ=194.92;QD=1.28;SB=-18.62 GT:AD:DP:GL:GQ 0/1:64,87:75:-45.36,-22.59,-238.39:99 -chr1 813576 . G T 36.42 DPFilter;Indel;LowQual AC=1;AF=0.50;AN=2;DP=256;Dels=0.00;HRun=0;HaplotypeScore=114.90;MQ=32.12;MQ0=13;QD=0.14;SB=80.27 GT:AD:DP:GL:GQ 0/1:231,25:108:-39.45,-32.53,-355.25:69.25 -chr1 813577 . C T 12.25 DPFilter;Indel;LowQual AC=1;AF=0.50;AN=2;DP=253;Dels=0.00;HRun=0;HaplotypeScore=118.76;MQ=32.29;MQ0=11;QD=0.05;SB=83.28 GT:AD:DP:GL:GQ 0/1:222,24:110:-47.87,-43.39,-370.50:44.82 -chr1 813595 . G A 14.36 DPFilter;Indel;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=304;Dels=0.02;HRun=3;HaplotypeScore=679.47;MQ=32.56;MQ0=1;QD=0.05;SB=59.22 GT:AD:DP:GL:GQ 0/1:279,19:122:-44.63,-39.92,-398.76:47.04 -chr1 813600 . G A 274.89 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=326;Dels=0.00;HRun=2;HaplotypeScore=874.07;MQ=32.03;MQ0=1;QD=0.84;SB=65.24 GT:AD:DP:GL:GQ 0/1:247,78:142:-73.54,-42.77,-440.28:99 -chr1 813603 . G A 897.36 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=326;Dels=0.00;HRun=2;HaplotypeScore=1015.89;MQ=31.94;MQ0=0;QD=2.75;SB=17.55 GT:AD:DP:GL:GQ 0/1:201,125:138:-134.59,-41.57,-374.40:99 -chr1 813618 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=385;Dels=0.01;HRun=2;HaplotypeScore=1064.00;MQ=30.68;MQ0=0;OQ=4144.71;QD=10.77;SB=-60.77 GT:AD:DP:GL:GQ 0/1:139,193:174:-413.47,-52.40,-263.62:99 -chr1 813640 . G A 6008.25 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=492;Dels=0.03;HRun=2;HaplotypeScore=778.76;MQ=30.34;MQ0=0;QD=12.21;SB=-280.67 GT:AD:DP:GL:GQ 0/1:225,249:279:-599.83,-82.23,-444.10:99 -chr1 813644 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=499;Dels=0.00;HRun=2;HaplotypeScore=589.76;MQ=30.13;MQ0=0;OQ=1319.59;QD=2.64;SB=-65.34 GT:AD:DP:GL:GQ 0/1:370,128:286:-221.39,-86.15,-815.48:99 -chr1 813653 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=493;Dels=0.00;HRun=1;HaplotypeScore=439.06;MQ=30.75;MQ0=0;OQ=617.48;QD=1.25;SB=-157.65 GT:AD:DP:GL:GQ 0/1:455,38:256:-142.14,-77.10,-775.99:99 -chr1 813667 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=450;Dels=0.03;HRun=0;HaplotypeScore=1087.09;MQ=31.84;MQ0=0;OQ=612.31;QD=1.36;SB=24.15 GT:AD:DP:GL:GQ 0/1:310,99:290:-203.97,-139.46,-953.68:99 -chr1 813680 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=385;Dels=0.03;HRun=2;HaplotypeScore=1191.21;MQ=32.81;MQ0=0;OQ=1213.04;QD=3.15;SB=-10.63 GT:AD:DP:GL:GQ 0/1:276,97:229:-193.56,-68.97,-645.40:99 -chr1 813720 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=252;Dels=0.06;HRun=1;HaplotypeScore=327.60;MQ=37.03;MQ0=0;OQ=194.28;QD=0.77;SB=110.38 GT:AD:DP:GL:GQ 0/1:205,33:146:-66.38,-43.67,-457.57:99 -chr1 813729 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=187;Dels=0.00;HRun=0;HaplotypeScore=373.81;MQ=39.70;MQ0=0;OQ=281.23;QD=1.50;SB=15.00 GT:AD:DP:GL:GQ 0/1:127,60:111:-64.84,-33.43,-345.95:99 -chr1 813820 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=81;Dels=0.05;HRun=2;HaplotypeScore=42.41;MQ=49.74;MQ0=3;OQ=162.06;QD=2.00;SB=-100.42 GT:AD:DP:GL:GQ 0/1:56,21:59:-37.26,-17.77,-183.03:99 -chr1 813869 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=0;HaplotypeScore=73.61;MQ=47.62;MQ0=2;OQ=155.20;QD=1.94;SB=41.14 GT:AD:DP:GL:GQ 0/1:71,9:54:-35.07,-16.26,-160.29:99 -chr1 813877 . G A 25.05 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=66.85;MQ=49.86;MQ0=1;QD=0.34;SB=32.11 GT:AD:DP:GL:GQ 0/1:64,9:51:-21.15,-15.36,-169.54:57.88 -chr1 813907 . G A 23.05 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=73;Dels=0.04;HRun=1;HaplotypeScore=56.30;MQ=49.27;MQ0=1;QD=0.32;SB=38.13 GT:AD:DP:GL:GQ 0/1:63,7:54:-21.25,-15.66,-171.08:55.87 -chr1 813910 . G A 12.29 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=61.37;MQ=49.27;MQ0=1;QD=0.17;SB=35.12 GT:AD:DP:GL:GQ 0/1:63,10:55:-21.06,-16.57,-179.39:44.87 -chr1 813923 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=75;Dels=0.03;HRun=2;HaplotypeScore=23.38;MQ=50.12;MQ0=1;OQ=138.74;QD=1.85;SB=-24.20 GT:AD:DP:GL:GQ 0/1:50,23:55:-33.43,-16.28,-173.24:99 -chr1 813957 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=127;Dels=0.00;HRun=2;HaplotypeScore=18.68;MQ=43.32;MQ0=1;OQ=871.71;QD=6.86;SB=-275.74 GT:AD:DP:GL:GQ 0/1:65,62:85:-116.06,-25.61,-200.91:99 -chr1 813978 . A C 0.71 PASS AC=1;AF=0.50;AN=2;DP=148;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=39.28;MQ0=4;OQ=705.69;QD=4.77;SB=-252.74 GT:AD:DP:GL:GQ 0/1:54,94:80:-97.95,-24.09,-193.62:99 -chr1 814078 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=191;Dels=0.00;HRun=1;HaplotypeScore=6.42;MQ=36.79;MQ0=24;OQ=486.46;QD=2.55;SB=-267.20 GT:AD:DP:GL:GQ 0/1:63,128:82:-76.63,-24.70,-247.64:99 -chr1 814121 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=168;Dels=0.00;HRun=0;HaplotypeScore=39.43;MQ=40.45;MQ0=17;OQ=289.94;QD=1.73;SB=-38.08 GT:AD:DP:GL:GQ 0/1:70,98:82:-56.99,-24.71,-295.92:99 -chr1 814147 . C T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=151;Dels=0.00;HRun=0;HaplotypeScore=14.17;MQ=45.92;MQ0=13;OQ=964.78;QD=6.39;SB=-366.58 GT:AD:DP:GL:GQ 0/1:82,69:112:-133.50,-33.74,-285.66:99 -chr1 814171 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=168;Dels=0.00;HRun=1;HaplotypeScore=20.78;MQ=44.66;MQ0=14;OQ=904.13;QD=5.38;SB=-364.51 GT:AD:DP:GL:GQ 0/1:83,85:118:-129.23,-35.54,-305.53:99 -chr1 814202 . C A 1692.96 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=197;Dels=0.09;HRun=0;HaplotypeScore=162.31;MQ=41.97;MQ0=8;QD=8.59;SB=-578.48 GT:AD:DP:GL:GQ 0/1:79,100:139:-213.84,-41.26,-286.69:99 -chr1 814220 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=217;Dels=0.00;HRun=0;HaplotypeScore=50.82;MQ=39.65;MQ0=8;OQ=329.14;QD=1.52;SB=-86.50 GT:AD:DP:GL:GQ 0/1:161,56:136:-77.16,-40.96,-423.94:99 -chr1 814233 . G A 2067.86 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=224;Dels=0.00;HRun=0;HaplotypeScore=147.47;MQ=38.66;MQ0=13;QD=9.23;SB=-544.97 GT:AD:DP:GL:GQ 0/1:105,119:132:-249.86,-39.79,-228.63:99 -chr1 814239 . A G 1315.30 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=220;Dels=0.00;HRun=1;HaplotypeScore=123.50;MQ=38.45;MQ0=13;QD=5.98;SB=-142.40 GT:AD:DP:GL:GQ 0/1:70,150:114:-169.16,-34.34,-278.17:99 -chr1 814242 . A G 554.64 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=231;Dels=0.00;HRun=0;HaplotypeScore=125.56;MQ=38.13;MQ0=16;QD=2.40;SB=-155.01 GT:AD:DP:GL:GQ 0/1:172,59:130:-97.91,-39.16,-422.03:99 -chr1 814256 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=245;Dels=0.00;HRun=0;HaplotypeScore=21.41;MQ=37.07;MQ0=15;OQ=2324.45;QD=9.49;SB=-360.77 GT:AD:DP:GL:GQ 0/1:68,177:144:-279.11,-43.38,-270.96:99 -chr1 814273 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=271;Dels=0.00;HRun=0;HaplotypeScore=59.92;MQ=36.71;MQ0=15;OQ=51.68;QD=0.19;SB=122.32 GT:AD:DP:GL:GQ 0/1:221,49:163:-60.05,-51.60,-506.38:84.51 -chr1 814274 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=269;Dels=0.00;HRun=0;HaplotypeScore=59.77;MQ=36.62;MQ0=15;OQ=1850.48;QD=6.88;SB=-407.81 GT:AD:DP:GL:GQ 0/1:149,120:153:-234.45,-46.12,-315.76:99 -chr1 814294 . A G 2410.03 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=266;Dels=0.00;HRun=2;HaplotypeScore=103.79;MQ=37.05;MQ0=15;QD=9.06;SB=-443.47 GT:AD:DP:GL:GQ 0/1:75,191:153:-290.38,-46.10,-295.34:99 -chr1 814296 . G A 1211.04 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=274;Dels=0.00;HRun=0;HaplotypeScore=219.20;MQ=36.82;MQ0=15;QD=4.42;SB=-351.23 GT:AD:DP:GL:GQ 0/1:200,74:158:-171.99,-47.60,-420.58:99 -chr1 814301 . A G 978.34 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=274;Dels=0.00;HRun=0;HaplotypeScore=220.77;MQ=36.41;MQ0=15;QD=3.57;SB=-180.08 GT:AD:DP:GL:GQ 0/1:73,201:110:-134.26,-33.14,-291.65:99 -chr1 814305 . T C 45.78 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=278;Dels=0.00;HRun=0;HaplotypeScore=232.83;MQ=35.76;MQ0=15;QD=0.16;SB=-43.14 GT:AD:DP:GL:GQ 0/1:206,71:102:-38.59,-30.73,-365.14:78.61 -chr1 814318 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=278;Dels=0.00;HRun=0;HaplotypeScore=167.17;MQ=36.26;MQ0=13;OQ=2113.99;QD=7.60;SB=-387.55 GT:AD:DP:GL:GQ 0/1:72,191:148:-269.75,-55.07,-295.63:99 -chr1 814320 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=280;Dels=0.00;HRun=0;HaplotypeScore=167.17;MQ=36.49;MQ0=13;OQ=746.17;QD=2.66;SB=-108.14 GT:AD:DP:GL:GQ 0/1:218,62:140:-120.08,-42.18,-412.31:99 -chr1 814333 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=285;Dels=0.00;HRun=0;HaplotypeScore=281.15;MQ=35.53;MQ0=9;OQ=1990.33;QD=6.98;SB=-447.96 GT:AD:DP:GL:GQ 0/1:95,190:142:-245.09,-42.77,-288.22:99 -chr1 814346 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=251;Dels=0.00;HRun=0;HaplotypeScore=225.23;MQ=36.32;MQ0=4;OQ=1683.84;QD=6.71;SB=-421.88 GT:AD:DP:GL:GQ 0/1:107,144:128:-210.24,-38.57,-269.23:99 -chr1 814360 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=225;Dels=0.00;HRun=2;HaplotypeScore=149.83;MQ=38.08;MQ0=4;OQ=172.19;QD=0.77;SB=51.61 GT:AD:DP:GL:GQ 0/1:195,28:117:-55.74,-35.24,-362.13:99 -chr1 814384 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=149;Dels=0.00;HRun=1;HaplotypeScore=42.51;MQ=45.49;MQ0=3;OQ=551.67;QD=3.70;SB=-145.33 GT:AD:DP:GL:GQ 0/1:76,73:99:-88.27,-29.82,-286.26:99 -chr1 814428 . T G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=130;Dels=0.00;HRun=0;HaplotypeScore=10.58;MQ=49.14;MQ0=17;OQ=342.52;QD=2.63;SB=-111.49 GT:AD:DP:GL:GQ 0/1:82,48:99:-67.35,-29.82,-298.71:99 -chr1 814439 . C T 20.82 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=149;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=47.72;MQ0=20;QD=0.14;SB=152.46 GT:AD:DP:GL:GQ 0/1:137,12:115:-40.00,-34.64,-383.60:53.62 -chr1 814456 . C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=162;Dels=0.00;HRun=1;HaplotypeScore=15.28;MQ=46.84;MQ0=26;OQ=753.94;QD=4.65;SB=-138.63 GT:AD:DP:GL:GQ 0/1:92,70:122:-115.43,-36.75,-321.50:99 -chr1 814470 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=189;Dels=0.00;HRun=1;HaplotypeScore=31.58;MQ=44.82;MQ0=39;OQ=884.58;QD=4.68;SB=-229.69 GT:AD:DP:GL:GQ 0/1:97,92:121:-128.25,-36.50,-368.74:99 -chr1 814488 . C A 76.03 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=247;Dels=0.00;HRun=0;HaplotypeScore=105.09;MQ=41.14;MQ0=41;QD=0.31;SB=176.55 GT:AD:DP:GL:GQ 0/1:229,16:148:-55.47,-44.58,-476.50:99 -chr1 814489 . C G 69.13 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=248;Dels=0.00;HRun=0;HaplotypeScore=89.81;MQ=41.12;MQ0=41;QD=0.28;SB=176.62 GT:AD:DP:GL:GQ 0/1:231,17:149:-55.10,-44.90,-596.57:99 -chr1 814495 . T C 1858.16 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=258;Dels=0.00;HRun=0;HaplotypeScore=56.93;MQ=40.44;MQ0=47;QD=7.20;SB=-760.45 GT:AD:DP:GL:GQ 0/1:92,166:157:-236.40,-47.30,-370.00:99 -chr1 814529 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=433;Dels=0.00;HRun=0;HaplotypeScore=120.51;MQ=38.11;MQ0=39;OQ=500.57;QD=1.16;SB=-243.42 GT:AD:DP:GL:GQ 0/1:383,50:261:-131.95,-78.61,-806.43:99 -chr1 814534 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=446;Dels=0.00;HRun=0;HaplotypeScore=107.63;MQ=38.32;MQ0=36;OQ=359.59;QD=0.81;SB=-173.49 GT:AD:DP:GL:GQ 0/1:401,44:272:-121.18,-81.93,-841.90:99 -chr1 814540 . A G 36.54 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=477;Dels=0.00;HRun=1;HaplotypeScore=62.33;MQ=38.25;MQ0=37;QD=0.08;SB=123.17 GT:AD:DP:GL:GQ 0/1:445,32:265:-86.76,-79.83,-986.21:69.37 -chr1 814554 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=529;Dels=0.00;HRun=0;HaplotypeScore=89.36;MQ=37.97;MQ0=32;OQ=9731.93;QD=18.40;SB=-1976.66 GT:AD:DP:GL:GQ 0/1:80,449:318:-972.19,-95.79,-281.92:99 -chr1 814557 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=552;Dels=0.00;HRun=0;HaplotypeScore=97.56;MQ=38.01;MQ0=31;OQ=8661.84;QD=15.69;SB=-1680.73 GT:AD:DP:GL:GQ 0/1:195,357:340:-865.18,-102.42,-472.42:99 -chr1 814572 rs564838 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=625;Dels=0.00;HRun=1;HaplotypeScore=63.63;MQ=38.08;MQ0=27;OQ=2371.32;QD=3.79;SB=-326.77 GT:AD:DP:GL:GQ 0/1:480,145:413:-364.80,-124.39,-1136.05:99 -chr1 814627 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=504;Dels=0.00;HRun=1;HaplotypeScore=183.33;MQ=39.27;MQ0=14;OQ=10984.00;QD=21.79;SB=-1265.89 GT:AD:DP:GL:GQ 0/1:67,203:343:-1097.40,-537.50,-676.52:99 -chr1 814675 . G A 2732.90 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=265;Dels=0.00;HRun=1;HaplotypeScore=261.45;MQ=41.69;MQ0=11;QD=10.31;SB=-108.93 GT:AD:DP:GL:GQ 0/1:161,102:166:-330.09,-53.51,-314.61:99 -chr1 814679 . A G 2402.46 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=237;Dels=0.00;HRun=1;HaplotypeScore=135.51;MQ=41.79;MQ0=13;QD=10.14;SB=-20.34 GT:AD:DP:GL:GQ 0/1:70,167:146:-287.52,-43.99,-273.83:99 -chr1 814680 . C T 2092.18 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=238;Dels=0.00;HRun=0;HaplotypeScore=134.51;MQ=41.43;MQ0=17;QD=8.79;SB=-7.62 GT:AD:DP:GL:GQ 0/1:151,86:144:-255.88,-43.38,-283.23:99 -chr1 814701 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=219;Dels=0.00;HRun=0;HaplotypeScore=51.82;MQ=41.75;MQ0=19;OQ=1622.55;QD=7.41;SB=-75.48 GT:AD:DP:GL:GQ 0/1:87,132:141:-208.02,-42.48,-267.24:99 -chr1 814708 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=222;Dels=0.00;HRun=0;HaplotypeScore=76.68;MQ=40.68;MQ0=25;OQ=2028.26;QD=9.14;SB=-58.81 GT:AD:DP:GL:GQ 0/1:84,138:144:-249.49,-43.38,-267.28:99 -chr1 814713 rs563211 T C 1374.69 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=232;Dels=0.00;HRun=0;HaplotypeScore=105.58;MQ=40.40;MQ0=29;QD=5.93;SB=29.72 GT:AD:DP:GL:GQ 0/1:146,86:143:-183.83,-43.08,-359.04:99 -chr1 814720 . T C 689.97 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=243;Dels=0.00;HRun=0;HaplotypeScore=108.11;MQ=39.59;MQ0=32;QD=2.84;SB=46.65 GT:AD:DP:GL:GQ 0/1:85,157:115:-106.92,-34.64,-346.63:99 -chr1 814722 . C G 183.01 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=254;Dels=0.00;HRun=0;HaplotypeScore=126.09;MQ=39.61;MQ0=33;QD=0.72;SB=68.61 GT:AD:DP:GL:GQ 0/1:217,37:122:-58.35,-36.76,-472.38:99 -chr1 814737 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=299;Dels=0.00;HRun=0;HaplotypeScore=30.86;MQ=38.18;MQ0=38;OQ=2218.82;QD=7.42;SB=-36.77 GT:AD:DP:GL:GQ 0/1:186,113:186:-281.20,-56.03,-416.78:99 -chr1 814767 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=365;Dels=0.00;HRun=2;HaplotypeScore=49.56;MQ=35.63;MQ0=43;OQ=5264.89;QD=14.42;SB=-427.42 GT:AD:DP:GL:GQ 0/1:96,269:216:-525.49,-65.13,-366.09:99 -chr1 814784 . A G 211.71 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=402;Dels=0.00;HRun=0;HaplotypeScore=324.91;MQ=34.66;MQ0=41;QD=0.53;SB=-28.05 GT:AD:DP:GL:GQ 0/1:357,45:243:-97.65,-73.19,-885.32:99 -chr1 814787 . A G 1988.10 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=404;Dels=0.00;HRun=0;HaplotypeScore=288.76;MQ=34.45;MQ0=41;QD=4.92;SB=-448.31 GT:AD:DP:GL:GQ 0/1:239,165:199:-262.08,-59.99,-467.56:99 -chr1 814790 . G A 2076.12 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=406;Dels=0.00;HRun=0;HaplotypeScore=289.81;MQ=34.38;MQ0=42;QD=5.11;SB=-426.20 GT:AD:DP:GL:GQ 0/1:294,112:245:-284.69,-73.80,-651.34:99 -chr1 814794 . G C 5521.90 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=400;Dels=0.00;HRun=0;HaplotypeScore=359.70;MQ=34.34;MQ0=40;QD=13.80;SB=-919.83 GT:AD:DP:GL:GQ 0/1:77,252:207:-551.19,-211.22,-478.27:99 -chr1 814804 . C T 88.70 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=434;Dels=0.00;HRun=1;HaplotypeScore=347.22;MQ=35.87;MQ0=35;QD=0.20;SB=-33.30 GT:AD:DP:GL:GQ 0/1:387,47:188:-68.79,-56.64,-599.68:99 -chr1 814807 . A C 912.16 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=446;Dels=0.00;HRun=1;HaplotypeScore=302.12;MQ=36.31;MQ0=35;QD=2.05;SB=-348.23 GT:AD:DP:GL:GQ 0/1:319,127:242:-167.40,-72.90,-690.79:99 -chr1 814811 . C T 8629.57 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=472;Dels=0.00;HRun=2;HaplotypeScore=321.44;MQ=36.81;MQ0=35;QD=18.28;SB=-2662.56 GT:AD:DP:GL:GQ 0/1:133,339:310:-861.96,-93.38,-350.61:99 -chr1 814815 . G A 1219.97 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=497;Dels=0.00;HRun=1;HaplotypeScore=253.88;MQ=37.19;MQ0=33;QD=2.45;SB=-308.28 GT:AD:DP:GL:GQ 0/1:414,82:332:-225.30,-100.02,-991.58:99 -chr1 814833 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=552;Dels=0.00;HRun=0;HaplotypeScore=30.66;MQ=38.93;MQ0=25;OQ=13138.69;QD=23.80;SB=-5564.86 GT:AD:DP:GL:GQ 0/1:68,484:387:-1312.87,-116.58,-241.99:99 -chr1 814846 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=600;Dels=0.00;HRun=1;HaplotypeScore=69.54;MQ=39.19;MQ0=23;OQ=3136.64;QD=5.23;SB=-1237.78 GT:AD:DP:GL:GQ 0/1:435,165:409:-440.13,-123.18,-1039.78:99 -chr1 814879 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=693;Dels=0.00;HRun=0;HaplotypeScore=388.69;MQ=39.91;MQ0=7;OQ=8125.01;QD=11.72;SB=-2578.04 GT:AD:DP:GL:GQ 0/1:409,284:467:-811.50,-140.66,-960.39:99 -chr1 814880 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=692;Dels=0.00;HRun=2;HaplotypeScore=381.90;MQ=39.95;MQ0=7;OQ=2413.57;QD=3.49;SB=-960.49 GT:AD:DP:GL:GQ 0/1:533,158:465:-387.57,-142.93,-1289.43:99 -chr1 814900 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=699;Dels=0.00;HRun=0;HaplotypeScore=119.56;MQ=39.22;MQ0=14;OQ=14541.95;QD=20.80;SB=-4000.09 GT:AD:DP:GL:GQ 0/1:90,605:445:-1453.20,-134.09,-272.14:99 -chr1 814929 . C T 1261.33 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=562;Dels=0.00;HRun=0;HaplotypeScore=644.78;MQ=37.11;MQ0=29;QD=2.24;SB=-29.99 GT:AD:DP:GL:GQ 0/1:384,176:313:-223.70,-94.28,-953.66:99 -chr1 814931 . T C 7350.11 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=554;Dels=0.00;HRun=4;HaplotypeScore=616.85;MQ=36.93;MQ0=28;QD=13.27;SB=-1896.86 GT:AD:DP:GL:GQ 0/1:148,405:309:-734.01,-93.08,-440.40:99 -chr1 814932 rs4475692 G A 10783.24 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=554;Dels=0.00;HRun=0;HaplotypeScore=621.95;MQ=36.79;MQ0=29;QD=19.46;SB=-2129.22 GT:AD:DP:GL:GQ 0/1:174,298:306:-1077.32,-380.57,-459.91:99 -chr1 814939 . G A 1306.21 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=568;Dels=0.00;HRun=1;HaplotypeScore=479.84;MQ=36.20;MQ0=35;QD=2.30;SB=-170.45 GT:AD:DP:GL:GQ 0/1:402,165:327:-232.39,-98.48,-986.51:99 -chr1 814952 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=543;Dels=0.00;HRun=0;HaplotypeScore=51.53;MQ=35.74;MQ0=35;OQ=140.17;QD=0.26;SB=144.16 GT:AD:DP:GL:GQ 0/1:482,61:349:-122.41,-105.11,-1207.38:99 -chr1 814967 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=541;Dels=0.00;HRun=0;HaplotypeScore=312.71;MQ=35.10;MQ0=40;OQ=7468.20;QD=13.80;SB=-2338.34 GT:AD:DP:GL:GQ 0/1:256,284:360:-745.82,-108.45,-622.35:99 -chr1 814975 . C T 35.90 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=483;Dels=0.00;HRun=0;HaplotypeScore=80.80;MQ=34.88;MQ0=44;QD=0.07;SB=387.40 GT:AD:DP:GL:GQ 0/1:418,42:326:-167.53,-160.66,-1098.08:68.73 -chr1 815007 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=591;Dels=0.00;HRun=1;HaplotypeScore=71.67;MQ=32.27;MQ0=41;OQ=5134.52;QD=8.69;SB=-1587.17 GT:AD:DP:GL:GQ 0/1:388,203:408:-512.45,-122.89,-966.60:99 -chr1 815060 rs7417801 G A 11239.90 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=650;Dels=0.00;HRun=0;HaplotypeScore=316.82;MQ=33.42;MQ0=19;QD=17.29;SB=-4737.34 GT:AD:DP:GL:GQ 0/1:178,470:421:-1122.99,-126.87,-458.77:99 -chr1 815061 . C T 1691.04 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=650;Dels=0.00;HRun=1;HaplotypeScore=315.98;MQ=33.65;MQ0=19;QD=2.60;SB=-738.44 GT:AD:DP:GL:GQ 0/1:537,113:421:-299.19,-126.80,-1266.58:99 -chr1 815070 rs61768257 T C 12258.60 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=631;Dels=0.00;HRun=0;HaplotypeScore=343.15;MQ=33.97;MQ0=16;QD=19.43;SB=-5504.71 GT:AD:DP:GL:GQ 0/1:80,551:412:-1224.86,-124.09,-309.22:99 -chr1 815113 rs61768258 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=470;Dels=0.00;HRun=0;HaplotypeScore=109.35;MQ=33.63;MQ0=24;OQ=6584.76;QD=14.01;SB=-2185.39 GT:AD:DP:GL:GQ 0/1:114,356:254:-657.48,-76.51,-273.29:99 -chr1 815129 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=382;Dels=0.00;HRun=3;HaplotypeScore=48.33;MQ=33.58;MQ0=23;OQ=4485.00;QD=11.74;SB=-986.12 GT:AD:DP:GL:GQ 0/1:120,260:190:-447.50,-57.26,-260.95:99 -chr1 815155 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=321;Dels=0.00;HRun=2;HaplotypeScore=58.38;MQ=34.02;MQ0=21;OQ=1737.47;QD=5.41;SB=15.00 GT:AD:DP:GL:GQ 0/1:189,132:155:-223.72,-46.69,-361.30:99 -chr1 815170 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=270;Dels=0.00;HRun=0;HaplotypeScore=137.94;MQ=34.80;MQ0=19;OQ=2424.70;QD=8.98;SB=14.59 GT:AD:DP:GL:GQ 0/1:64,205:125:-283.44,-37.69,-171.56:99 -chr1 815209 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=213;Dels=0.00;HRun=4;HaplotypeScore=80.30;MQ=38.66;MQ0=0;OQ=2224.65;QD=10.44;SB=11.50 GT:AD:DP:GL:GQ 0/1:67,146:136:-266.72,-40.97,-258.01:99 -chr1 815222 . C G 180.27 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=222;Dels=0.00;HRun=2;HaplotypeScore=142.18;MQ=38.40;MQ0=0;QD=0.81;SB=9.29 GT:AD:DP:GL:GQ 0/1:186,36:136:-62.35,-41.04,-500.13:99 -chr1 815223 . G T 2117.77 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=216;Dels=0.00;HRun=1;HaplotypeScore=129.82;MQ=38.70;MQ0=0;QD=9.80;SB=21.09 GT:AD:DP:GL:GQ 0/1:67,149:140:-257.24,-42.18,-220.42:99 -chr1 815225 . C A 1105.29 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=217;Dels=0.00;HRun=2;HaplotypeScore=129.82;MQ=38.83;MQ0=0;QD=5.09;SB=62.22 GT:AD:DP:GL:GQ 0/1:119,82:139:-174.62,-60.81,-341.62:99 -chr1 815273 rs13303179 G A 2565.92 DPFilter;Indel AC=1;AF=0.50;AN=2;DB;DP=228;Dels=0.03;HRun=0;HaplotypeScore=354.84;MQ=39.22;MQ0=2;QD=11.25;SB=-1159.78 GT:AD:DP:GL:GQ 0/1:137,80:90:-286.39,-26.51,-60.11:99 -chr1 815278 . G T 761.09 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=240;Dels=0.00;HRun=1;HaplotypeScore=623.87;MQ=38.93;MQ0=0;QD=3.17;SB=80.36 GT:AD:DP:GL:GQ 0/1:181,48:118:-132.78,-53.39,-296.79:99 -chr1 815284 . A T 612.72 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=234;Dels=0.01;HRun=0;HaplotypeScore=131.40;MQ=39.54;MQ0=0;QD=2.62;SB=-4.85 GT:AD:DP:GL:GQ 0/1:70,108:89:-96.12,-31.56,-237.53:99 -chr1 815299 . C T 462.61 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=271;Dels=0.00;HRun=1;HaplotypeScore=228.02;MQ=37.95;MQ0=1;QD=1.71;SB=107.29 GT:AD:DP:GL:GQ 0/1:137,134:104:-80.88,-31.33,-296.80:99 -chr1 815300 . A G 825.50 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=268;Dels=0.00;HRun=0;HaplotypeScore=227.74;MQ=37.73;MQ0=1;QD=3.08;SB=104.37 GT:AD:DP:GL:GQ 0/1:110,156:125:-123.50,-37.66,-346.20:99 -chr1 815308 . A G 1233.06 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=264;Dels=0.00;HRun=0;HaplotypeScore=419.76;MQ=37.40;MQ0=1;QD=4.67;SB=68.40 GT:AD:DP:GL:GQ 0/1:127,137:154:-172.99,-46.40,-402.39:99 -chr1 815312 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=276;Dels=0.00;HRun=0;HaplotypeScore=183.65;MQ=36.17;MQ0=1;OQ=3931.91;QD=14.25;SB=-32.81 GT:AD:DP:GL:GQ 0/1:62,214:156:-392.19,-47.02,-185.37:99 -chr1 815328 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=297;Dels=0.00;HRun=0;HaplotypeScore=61.42;MQ=35.05;MQ0=1;OQ=1563.62;QD=5.26;SB=37.57 GT:AD:DP:GL:GQ 0/1:210,87:190:-216.89,-57.25,-456.11:99 -chr1 815333 . A G 262.79 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=299;Dels=0.00;HRun=0;HaplotypeScore=239.02;MQ=35.16;MQ0=1;QD=0.88;SB=12.36 GT:AD:DP:GL:GQ 0/1:257,42:214:-94.06,-64.49,-716.97:99 -chr1 815339 . G A 1298.73 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=284;Dels=0.00;HRun=1;HaplotypeScore=174.26;MQ=34.74;MQ0=1;QD=4.57;SB=28.57 GT:AD:DP:GL:GQ 0/1:213,70:192:-191.01,-57.85,-488.27:99 -chr1 815340 . C A 157.45 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=279;Dels=0.00;HRun=0;HaplotypeScore=166.11;MQ=34.52;MQ0=1;QD=0.56;SB=56.17 GT:AD:DP:GL:GQ 0/1:238,39:195:-77.77,-58.74,-595.87:99 -chr1 815347 . C T 431.68 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=271;Dels=0.00;HRun=0;HaplotypeScore=149.67;MQ=34.21;MQ0=1;QD=1.59;SB=13.61 GT:AD:DP:GL:GQ 0/1:219,52:183:-101.60,-55.14,-567.56:99 -chr1 815356 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=282;Dels=0.00;HRun=0;HaplotypeScore=134.05;MQ=33.48;MQ0=1;OQ=648.64;QD=2.30;SB=53.15 GT:AD:DP:GL:GQ 0/1:240,42:173:-120.28,-52.13,-519.88:99 -chr1 815363 . G A 778.46 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=288;Dels=0.00;HRun=0;HaplotypeScore=145.91;MQ=33.47;MQ0=1;QD=2.70;SB=9.52 GT:AD:DP:GL:GQ 0/1:221,66:188:-137.76,-56.63,-540.20:99 -chr1 815371 . T A 4591.13 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=275;Dels=0.00;HRun=0;HaplotypeScore=258.43;MQ=32.98;MQ0=1;QD=16.70;SB=38.12 GT:AD:DP:GL:GQ 0/1:49,226:171:-458.11,-51.51,-170.42:99 -chr1 815373 . A T 533.41 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=286;Dels=0.00;HRun=2;HaplotypeScore=261.79;MQ=33.03;MQ0=1;QD=1.87;SB=35.14 GT:AD:DP:GL:GQ 0/1:246,39:154:-103.02,-46.39,-455.31:99 -chr1 815376 . C A 1170.34 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=282;Dels=0.00;HRun=0;HaplotypeScore=127.10;MQ=33.82;MQ0=1;QD=4.15;SB=38.15 GT:AD:DP:GL:GQ 0/1:188,94:146:-164.30,-43.98,-347.79:99 -chr1 815381 . G A 252.28 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=299;Dels=0.00;HRun=0;HaplotypeScore=149.34;MQ=33.65;MQ0=1;QD=0.84;SB=44.17 GT:AD:DP:GL:GQ 0/1:261,37:167:-78.82,-50.30,-512.70:99 -chr1 815393 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=275;Dels=0.00;HRun=2;HaplotypeScore=32.62;MQ=34.43;MQ0=1;OQ=361.63;QD=1.32;SB=59.23 GT:AD:DP:GL:GQ 0/1:214,61:130:-78.62,-39.18,-425.44:99 -chr1 815401 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=262;Dels=0.00;HRun=0;HaplotypeScore=139.53;MQ=35.48;MQ0=0;OQ=534.52;QD=2.04;SB=65.23 GT:AD:DP:GL:GQ 0/1:204,58:105:-88.37,-31.63,-309.51:99 -chr1 815405 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=256;Dels=0.00;HRun=0;HaplotypeScore=139.38;MQ=35.34;MQ0=0;OQ=1047.66;QD=4.09;SB=65.23 GT:AD:DP:GL:GQ 0/1:61,195:95:-136.67,-28.62,-215.61:99 -chr1 815412 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=227;Dels=0.00;HRun=1;HaplotypeScore=225.15;MQ=36.20;MQ0=0;OQ=276.35;QD=1.22;SB=65.25 GT:AD:DP:GL:GQ 0/1:61,166:74:-53.21,-22.29,-232.02:99 -chr1 815417 rs4970337 A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=202;Dels=0.00;HRun=1;HaplotypeScore=585.49;MQ=36.06;MQ0=0;OQ=1433.41;QD=7.10;SB=-630.86 GT:AD:DP:GL:GQ 1/1:20,53:52:-158.74,-15.68,-11.81:38.71 -chr1 815425 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=183;Dels=0.00;HRun=0;HaplotypeScore=313.15;MQ=35.48;MQ0=0;OQ=58.46;QD=0.32;SB=65.13 GT:AD:DP:GL:GQ 0/1:47,51:54:-25.40,-16.27,-162.78:91.30 -chr1 815458 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=0;HaplotypeScore=13.84;MQ=40.96;MQ0=1;OQ=53.27;QD=0.51;SB=62.22 GT:AD:DP:GL:GQ 0/1:68,36:55:-25.19,-16.58,-184.48:86.11 -chr1 815470 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=88;Dels=0.00;HRun=0;HaplotypeScore=23.44;MQ=43.10;MQ0=1;OQ=126.81;QD=1.44;SB=62.23 GT:AD:DP:GL:GQ 0/1:44,44:50:-31.03,-15.06,-165.46:99 -chr1 815557 . T C 22.78 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=84;Dels=0.00;HRun=1;HaplotypeScore=22.31;MQ=51.18;MQ0=1;QD=0.27;SB=2.47 GT:AD:DP:GL:GQ 0/1:71,13:68:-26.06,-20.50,-237.08:55.60 -chr1 815639 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=87;Dels=0.00;HRun=2;HaplotypeScore=38.60;MQ=52.07;MQ0=2;OQ=197.56;QD=2.27;SB=80.29 GT:AD:DP:GL:GQ 0/1:75,12:73:-45.07,-22.03,-247.37:99 -chr1 815714 rs4549984 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=45.55;MQ=35.23;MQ0=6;OQ=3065.05;QD=10.87;SB=-490.50 GT:AD:DP:GL:GQ 0/1:131,151:198:-369.43,-59.64,-380.00:99 -chr1 815740 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=388;Dels=0.00;HRun=1;HaplotypeScore=91.19;MQ=33.31;MQ0=8;OQ=203.81;QD=0.53;SB=46.30 GT:AD:DP:GL:GQ 0/1:351,35:273:-111.13,-87.46,-857.56:99 -chr1 815759 . A T 981.66 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=425;Dels=0.00;HRun=0;HaplotypeScore=319.89;MQ=33.30;MQ0=16;QD=2.31;SB=-282.31 GT:AD:DP:GL:GQ 0/1:309,70:292:-258.47,-157.02,-944.68:99 -chr1 815760 . C A 1978.15 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=424;Dels=0.00;HRun=3;HaplotypeScore=319.89;MQ=33.21;MQ0=16;QD=4.67;SB=-361.60 GT:AD:DP:GL:GQ 0/1:311,113:290:-288.45,-87.35,-755.50:99 -chr1 815761 . C A 1757.71 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=422;Dels=0.00;HRun=1;HaplotypeScore=319.47;MQ=33.03;MQ0=16;QD=4.17;SB=-393.48 GT:AD:DP:GL:GQ 0/1:295,112:286:-275.36,-96.30,-763.46:99 -chr1 815762 . A G 1602.96 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=423;Dels=0.00;HRun=0;HaplotypeScore=319.57;MQ=33.04;MQ0=16;QD=3.79;SB=-325.52 GT:AD:DP:GL:GQ 0/1:273,113:288:-310.25,-146.67,-857.16:99 -chr1 815765 . G A 2936.95 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=427;Dels=0.00;HRun=3;HaplotypeScore=320.41;MQ=33.17;MQ0=17;QD=6.88;SB=-566.97 GT:AD:DP:GL:GQ 0/1:277,150:291:-384.73,-87.75,-614.82:99 -chr1 815777 . C T 24.19 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=434;Dels=0.00;HRun=0;HaplotypeScore=73.54;MQ=32.97;MQ0=17;QD=0.06;SB=99.73 GT:AD:DP:GL:GQ 0/1:393,41:292:-93.65,-87.95,-958.63:57.01 -chr1 815780 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=432;Dels=0.00;HRun=1;HaplotypeScore=75.21;MQ=32.79;MQ0=17;OQ=115.11;QD=0.27;SB=79.01 GT:AD:DP:GL:GQ 0/1:399,33:289:-101.84,-87.05,-1076.94:99 -chr1 815810 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=266;Dels=0.00;HRun=3;HaplotypeScore=40.23;MQ=35.68;MQ0=17;OQ=207.08;QD=0.78;SB=-57.21 GT:AD:DP:GL:GQ 0/1:229,35:180:-78.22,-54.22,-636.76:99 -chr1 815845 . C G 0.13 PASS AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=0;HaplotypeScore=5.72;MQ=49.45;MQ0=9;OQ=487.79;QD=4.69;SB=-262.79 GT:AD:DP:GL:GQ 0/1:68,36:85:-77.68,-25.61,-285.79:99 -chr1 815857 . T A 21.33 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=0;HaplotypeScore=5.01;MQ=54.04;MQ0=5;QD=0.23;SB=16.48 GT:AD:DP:GL:GQ 0/1:77,14:82:-30.11,-24.70,-281.02:54.14 -chr1 815931 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=153;Dels=0.00;HRun=2;HaplotypeScore=25.80;MQ=41.76;MQ0=34;OQ=413.34;QD=2.70;SB=-90.95 GT:AD:DP:GL:GQ 0/1:89,64:100:-74.74,-30.13,-291.31:99 -chr1 815936 . T G 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=159;Dels=0.00;HRun=0;HaplotypeScore=3.77;MQ=41.51;MQ0=35;OQ=307.08;QD=1.93;SB=-87.61 GT:AD:DP:GL:GQ 0/1:91,68:101:-64.41,-30.42,-308.26:99 -chr1 815949 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=162;Dels=0.00;HRun=1;HaplotypeScore=25.06;MQ=39.71;MQ0=34;OQ=456.33;QD=2.82;SB=-102.31 GT:AD:DP:GL:GQ 0/1:134,28:100:-79.04,-30.12,-319.08:99 -chr1 815979 . A G 1177.05 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=164;Dels=0.00;HRun=1;HaplotypeScore=140.50;MQ=42.13;MQ0=3;QD=7.18;SB=-203.16 GT:AD:DP:GL:GQ 0/1:88,76:129:-159.86,-38.87,-326.00:99 -chr1 815980 . T C 32.10 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=168;Dels=0.00;HRun=0;HaplotypeScore=144.97;MQ=42.03;MQ0=3;QD=0.19;SB=-40.00 GT:AD:DP:GL:GQ 0/1:145,23:122:-43.25,-36.76,-439.68:64.94 -chr1 815986 . A G 296.02 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=181;Dels=0.00;HRun=2;HaplotypeScore=92.41;MQ=40.86;MQ0=3;QD=1.64;SB=-47.33 GT:AD:DP:GL:GQ 0/1:153,28:121:-69.34,-36.45,-404.50:99 -chr1 816000 . G A 125.95 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=173;Dels=0.00;HRun=1;HaplotypeScore=82.29;MQ=39.25;MQ0=3;QD=0.73;SB=53.66 GT:AD:DP:GL:GQ 0/1:159,14:109:-48.71,-32.83,-348.18:99 -chr1 816001 . G A 216.96 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=171;Dels=0.00;HRun=0;HaplotypeScore=91.06;MQ=39.38;MQ0=3;QD=1.27;SB=50.65 GT:AD:DP:GL:GQ 0/1:127,38:117:-81.21,-56.23,-367.68:99 -chr1 816004 . G A 219.09 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=172;Dels=0.00;HRun=0;HaplotypeScore=92.89;MQ=39.19;MQ0=0;QD=1.27;SB=56.64 GT:AD:DP:GL:GQ 0/1:125,47:119:-61.04,-35.85,-362.44:99 -chr1 816007 . G A 88.79 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=173;Dels=0.02;HRun=1;HaplotypeScore=88.30;MQ=38.80;MQ0=0;QD=0.51;SB=95.33 GT:AD:DP:GL:GQ 0/1:131,39:117:-47.40,-35.24,-375.36:99 -chr1 816018 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=196;Dels=0.00;HRun=1;HaplotypeScore=112.53;MQ=36.89;MQ0=0;OQ=274.62;QD=1.40;SB=-52.14 GT:AD:DP:GL:GQ 0/1:173,23:109:-63.59,-32.85,-401.41:99 -chr1 816026 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=182;Dels=0.00;HRun=0;HaplotypeScore=509.63;MQ=37.96;MQ0=0;OQ=1247.86;QD=6.86;SB=56.18 GT:AD:DP:GL:GQ 0/1:108,73:128:-166.63,-38.56,-316.49:99 -chr1 816043 . A G 1178.79 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=281;Dels=0.00;HRun=0;HaplotypeScore=614.45;MQ=34.94;MQ0=1;QD=4.19;SB=56.21 GT:AD:DP:GL:GQ 0/1:198,83:191:-178.71,-57.55,-539.60:99 -chr1 816057 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=287;Dels=0.00;HRun=0;HaplotypeScore=198.13;MQ=34.34;MQ0=4;OQ=1603.81;QD=5.59;SB=62.23 GT:AD:DP:GL:GQ 0/1:144,109:196:-293.22,-129.56,-512.85:99 -chr1 816072 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=309;Dels=0.00;HRun=0;HaplotypeScore=33.06;MQ=33.48;MQ0=15;OQ=115.32;QD=0.37;SB=71.18 GT:AD:DP:GL:GQ 0/1:282,15:160:-71.44,-56.63,-531.53:99 -chr1 816077 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=299;Dels=0.00;HRun=0;HaplotypeScore=55.33;MQ=33.49;MQ0=15;OQ=4794.59;QD=16.04;SB=68.22 GT:AD:DP:GL:GQ 0/1:81,218:173:-478.46,-52.11,-201.39:99 -chr1 816088 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=278;Dels=0.00;HRun=1;HaplotypeScore=51.57;MQ=34.30;MQ0=16;OQ=4463.53;QD=16.06;SB=62.23 GT:AD:DP:GL:GQ 0/1:58,220:169:-445.35,-50.90,-214.04:99 -chr1 816103 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=237;Dels=0.00;HRun=0;HaplotypeScore=38.99;MQ=36.26;MQ0=16;OQ=1889.47;QD=7.97;SB=68.20 GT:AD:DP:GL:GQ 0/1:61,152:117:-237.42,-45.19,-199.18:99 -chr1 816115 . C T 1441.66 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=202;Dels=0.00;HRun=0;HaplotypeScore=145.73;MQ=37.27;MQ0=15;QD=7.14;SB=68.18 GT:AD:DP:GL:GQ 0/1:132,70:112:-181.22,-33.77,-214.53:99 -chr1 816118 . A T 125.43 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=191;Dels=0.00;HRun=0;HaplotypeScore=164.12;MQ=38.34;MQ0=15;QD=0.66;SB=77.28 GT:AD:DP:GL:GQ 0/1:145,37:109:-58.41,-42.58,-369.08:99 -chr1 816122 . G C 132.11 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=182;Dels=0.00;HRun=0;HaplotypeScore=159.96;MQ=38.91;MQ0=15;QD=0.73;SB=80.30 GT:AD:DP:GL:GQ 0/1:155,27:96:-45.43,-28.94,-364.83:99 -chr1 816123 . A G 766.79 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=179;Dels=0.00;HRun=1;HaplotypeScore=157.96;MQ=38.91;MQ0=14;QD=4.28;SB=80.30 GT:AD:DP:GL:GQ 0/1:86,89:106:-121.93,-41.97,-306.67:99 -chr1 816140 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=130;Dels=0.00;HRun=2;HaplotypeScore=35.96;MQ=45.77;MQ0=9;OQ=496.37;QD=3.82;SB=92.32 GT:AD:DP:GL:GQ 0/1:81,49:95:-81.53,-28.61,-273.48:99 -chr1 817130 rs2879698 C T 1.75 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=7.86;MQ=52.69;MQ0=4;OQ=2390.21;QD=32.30;SB=-1172.34 GT:AD:DP:GL:GQ 1/1:5,69:61:-242.62,-18.38,-0.02:99 -chr1 817140 rs4246498 T C 134.82 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=52.12;MQ0=4;OQ=2043.04;QD=29.61;SB=-1026.82 GT:AD:DP:GL:GQ 1/1:0,69:59:-207.91,-17.78,-0.03:99 -chr1 817186 rs4970386 C T 31.13 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=4.56;MQ=51.33;MQ0=3;OQ=2194.13;QD=35.39;SB=-970.28 GT:AD:DP:GL:GQ 1/1:3,59:55:-223.01,-16.57,-0.01:99 -chr1 819196 rs9778019 G A 567.53 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=52.32;MQ0=0;OQ=1941.14;QD=39.62;SB=-968.30 GT:AD:DP:GL:GQ 1/1:0,49:49:-197.71,-14.76,-0.01:99 -chr1 819500 rs4437820 C T 68.03 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=1.98;MQ=47.44;MQ0=2;OQ=2599.35;QD=37.13;SB=-1006.03 GT:AD:DP:GL:GQ 1/1:0,70:64:-263.53,-19.28,-0.01:99 -chr1 819787 . G A 25.28 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=88;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=51.75;MQ0=1;QD=0.29;SB=104.31 GT:AD:DP:GL:GQ 0/1:80,8:75:-28.42,-22.61,-220.79:58.10 -chr1 820044 rs28444699 A G 2.65 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=5.59;MQ=55.18;MQ0=2;OQ=1994.05;QD=28.49;SB=-1022.00 GT:AD:DP:GL:GQ 1/1:9,61:60:-210.82,-18.07,-7.83:99 -chr1 820670 rs6422669 G C 266.94 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.30;MQ0=1;OQ=1743.26;QD=40.54;SB=-467.22 GT:AD:DP:GL:GQ 1/1:1,42:42:-177.93,-12.66,-0.02:99 -chr1 821139 rs4024798 C T 0.11 PASS AC=1;AF=0.50;AN=2;DB;DP=239;Dels=0.00;HRun=1;HaplotypeScore=9.98;MQ=39.26;MQ0=24;OQ=434.25;QD=1.82;SB=23.91 GT:AD:DP:GL:GQ 0/1:189,50:167:-97.03,-50.32,-487.12:99 -chr1 821171 rs477080 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=308;Dels=0.00;HRun=0;HaplotypeScore=33.10;MQ=34.56;MQ0=43;OQ=282.37;QD=0.92;SB=137.47 GT:AD:DP:GL:GQ 0/1:233,75:190:-88.75,-57.23,-688.44:99 -chr1 821352 rs4970385 C T 0.69 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=12.93;MQ=49.51;MQ0=5;OQ=2978.23;QD=32.02;SB=-1308.26 GT:AD:DP:GL:GQ 1/1:14,79:78:-308.32,-23.50,-6.91:99 -chr1 821772 rs9697642 C T 1.09 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=6.48;MQ=53.07;MQ0=1;OQ=2639.96;QD=38.26;SB=-935.74 GT:AD:DP:GL:GQ 1/1:1,68:65:-267.59,-19.58,-0.01:99 -chr1 821923 rs9697378 G A 628.11 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=46.85;MQ0=2;OQ=2615.06;QD=34.87;SB=-1164.40 GT:AD:DP:GL:GQ 1/1:9,66:67:-268.90,-20.18,-3.81:99 -chr1 821929 rs9697380 G C 204.81 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=46.00;MQ0=2;OQ=2952.34;QD=37.85;SB=-1375.91 GT:AD:DP:GL:GQ 1/1:9,69:70:-303.53,-21.09,-4.71:99 -chr1 821975 rs9697725 T C 60.31 PASS AC=2;AF=1.00;AN=2;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=42.31;MQ0=7;OQ=2446.13;QD=25.75;SB=-880.44 GT:AD:DP:GL:GQ 1/1:20,75:74:-256.35,-22.29,-8.15:99 -chr1 822041 rs13302934 A G 54.22 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=1.70;MQ=37.41;MQ0=11;OQ=2291.03;QD=26.64;SB=-1047.92 GT:AD:DP:GL:GQ 1/1:17,69:67:-236.77,-20.18,-4.08:99 -chr1 822181 rs4500250 C A 165.39 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=54.49;MQ0=0;OQ=2287.58;QD=33.15;SB=-1055.56 GT:AD:DP:GL:GQ 1/1:2,67:63:-232.36,-18.97,-0.02:99 -chr1 822261 rs4553118 T C 105.61 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=53.16;MQ0=0;OQ=2074.16;QD=32.41;SB=-1031.91 GT:AD:DP:GL:GQ 1/1:0,64:58:-211.02,-17.47,-0.02:99 -chr1 827077 . G C 11.08 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1103.43;QD=20.06;SB=-557.74 GT:AD:DP:GL:GQ 0/1:23,32:50:-128.70,-15.07,-86.51:99 -chr1 832688 rs7519340 A G 206.11 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=58.92;MQ0=0;OQ=2256.38;QD=34.19;SB=-897.99 GT:AD:DP:GL:GQ 1/1:0,66:64:-229.25,-19.28,-0.02:99 -chr1 833268 rs11516185 A G 180.02 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=58.03;MQ0=0;OQ=720.81;QD=12.65;SB=-270.98 GT:AD:DP:GL:GQ 0/1:24,33:50:-90.45,-15.09,-82.68:99 -chr1 834163 rs61769713 C G 7.44 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=34.66;MQ0=0;OQ=386.18;QD=32.18;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,12:11:-42.22,-3.32,-0.01:33.11 -chr1 834187 rs61769714 G A 6.81 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=34.17;MQ0=0;OQ=258.44;QD=25.84;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,9:8:-29.44,-2.42,-0.01:24.06 -chr1 834206 rs61769715 A G 21 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.33;MQ=32.88;MQ0=0;OQ=98.47;QD=14.07;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,7:4:-13.38,-1.21,-0.00:12.03 -chr1 834961 . T G 0.56 PASS AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;HRun=2;HaplotypeScore=0.74;MQ=16.23;MQ0=3;OQ=70.14;QD=6.38;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,10:3:-10.50,-0.90,-0.00:9.03 -chr1 835146 rs7366404 G T 7.38 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=37.00;MQ0=0;OQ=260.28;QD=32.54;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,8:8:-29.61,-2.41,-0.00:24.08 -chr1 836201 rs4970334 A G 56.75 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=2.61;MQ=57.95;MQ0=0;OQ=1280.53;QD=26.68;SB=-522.83 GT:AD:DP:GL:GQ 1/1:0,47:43:-131.69,-12.98,-0.05:99 -chr1 836352 rs4970333 T C 54.39 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=1.98;MQ=58.58;MQ0=0;OQ=1607.31;QD=32.80;SB=-789.15 GT:AD:DP:GL:GQ 1/1:0,49:46:-164.33,-13.86,-0.02:99 -chr1 837113 rs7416129 G A 502.58 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.51;MQ0=0;OQ=3431.98;QD=39.91;SB=-1125.99 GT:AD:DP:GL:GQ 1/1:0,85:84:-342.20,-25.31,-0.02:99 -chr1 839861 rs13303222 A G 170.66 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=2.35;MQ=59.09;MQ0=0;OQ=2748.15;QD=33.51;SB=-1203.79 GT:AD:DP:GL:GQ 1/1:0,81:78:-278.43,-23.50,-0.03:99 -chr1 840081 rs6664536 T A 113.50 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=58.64;MQ0=0;OQ=1837.58;QD=35.34;SB=-814.88 GT:AD:DP:GL:GQ 1/1:0,52:50:-187.36,-15.06,-0.02:99 -chr1 840234 rs6679046 G T 614.25 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.48;MQ0=0;OQ=2550.23;QD=33.56;SB=-1032.51 GT:AD:DP:GL:GQ 1/1:0,76:73:-258.64,-22.00,-0.04:99 -chr1 840643 rs6657440 C T 589.62 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.64;MQ0=0;OQ=2334.22;QD=36.47;SB=-836.99 GT:AD:DP:GL:GQ 1/1:0,64:61:-237.03,-18.38,-0.02:99 -chr1 841253 . G T 87.70 PASS AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=0;HaplotypeScore=2.68;MQ=59.70;MQ0=0;OQ=1174.44;QD=15.25;SB=-547.82 GT:AD:DP:GL:GQ 0/1:37,40:75:-143.32,-22.59,-125.03:99 -chr1 841362 rs4970465 A G 15.40 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=2;HaplotypeScore=2.07;MQ=60.00;MQ0=0;OQ=1972.18;QD=30.34;SB=-856.55 GT:AD:DP:GL:GQ 1/1:0,65:61:-200.85,-18.39,-0.05:99 -chr1 841500 . G C 11.73 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=3;HaplotypeScore=11.47;MQ=56.60;MQ0=0;QD=0.26;SB=59.23 GT:AD:DP:GL:GQ 0/1:36,10:33:-14.38,-9.96,-126.72:44.27 -chr1 841620 rs62677860 A G 51.10 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=60.00;MQ0=0;OQ=1201.63;QD=27.31;SB=-317.48 GT:AD:DP:GL:GQ 1/1:0,43:38:-123.78,-11.46,-0.03:99 -chr1 841900 rs4970463 G A 437.16 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.28;MQ0=0;OQ=1176.31;QD=36.76;SB=-508.18 GT:AD:DP:GL:GQ 1/1:0,32:31:-121.23,-9.34,-0.01:93.29 -chr1 841926 rs28436996 G A 99.38 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=58.05;MQ0=0;OQ=1247.42;QD=34.65;SB=-580.28 GT:AD:DP:GL:GQ 1/1:0,35:33:-128.34,-9.94,-0.01:99 -chr1 841996 rs7518702 C T 517.92 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1573.23;QD=37.46;SB=-692.34 GT:AD:DP:GL:GQ 1/1:0,41:40:-160.92,-12.05,-0.01:99 -chr1 842738 rs13303369 C T 76.16 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=3.63;MQ=58.47;MQ0=0;OQ=2145.17;QD=36.99;SB=-908.72 GT:AD:DP:GL:GQ 1/1:0,58:57:-218.13,-17.18,-0.03:99 -chr1 842827 rs4970461 T G 8.55 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=2.36;MQ=59.03;MQ0=0;OQ=1414.13;QD=29.46;SB=-684.25 GT:AD:DP:GL:GQ 1/1:0,48:47:-145.05,-14.17,-0.05:99 -chr1 843817 rs1806509 C A 190.21 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=59.61;MQ0=0;OQ=1993.99;QD=33.80;SB=-878.64 GT:AD:DP:GL:GQ 1/1:0,59:57:-203.01,-17.17,-0.02:99 -chr1 844640 rs13303019 A G 51.99 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=59.20;MQ0=0;OQ=644.86;QD=22.24;SB=-345.42 GT:AD:DP:GL:GQ 1/1:0,29:23:-68.11,-6.95,-0.04:69.10 -chr1 844841 rs13303057 A C 5.18 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=1.91;MQ=58.36;MQ0=0;OQ=1059.33;QD=26.48;SB=-412.87 GT:AD:DP:GL:GQ 1/1:0,40:35:-109.55,-10.55,-0.04:99 -chr1 844938 rs6673914 C G 24.53 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=58.27;MQ0=0;OQ=1048.92;QD=37.46;SB=-371.18 GT:AD:DP:GL:GQ 1/1:0,28:26:-108.49,-7.84,-0.02:78.26 -chr1 847591 rs6689107 T G 181.31 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=59.19;MQ0=0;OQ=1848.72;QD=32.43;SB=-803.49 GT:AD:DP:GL:GQ 1/1:0,57:54:-188.48,-16.27,-0.02:99 -chr1 848664 rs7418179 A G 160.64 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=1692.05;QD=34.53;SB=-783.00 GT:AD:DP:GL:GQ 1/1:0,49:48:-172.81,-14.46,-0.02:99 -chr1 850279 rs61464428 G A 12.90 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=57.66;MQ0=0;OQ=337.99;QD=33.80;SB=-134.01 GT:AD:DP:GL:GQ 1/1:0,10:10:-37.39,-3.02,-0.01:30.09 -chr1 850324 rs57465118 G A 8.27 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=54.65;MQ0=0;OQ=218.19;QD=24.24;SB=-48.67 GT:AD:DP:GL:GQ 1/1:0,9:7:-25.40,-2.11,-0.00:21.06 -chr1 850384 rs57924093 C A 117.02 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=50.88;MQ0=0;OQ=151.15;QD=25.19;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,5:5:-18.67,-1.51,-0.00:15.05 -chr1 850551 rs60837925 G A 175.87 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.04;MQ0=0;OQ=188.60;QD=31.43;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,6:6:-22.43,-1.81,-0.00:18.06 -chr1 850660 . G T 32.80 LowQual AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=65.19;MQ0=0;QD=16.40;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,2:2:-6.69,-0.60,-0.00:6.02 -chr1 850717 rs57816555 T C 168.04 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=49.96;MQ0=0;OQ=139.82;QD=27.96;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,5:5:-17.54,-1.51,-0.00:15.04 -chr1 850871 rs28521172 G C 136.83 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.04;MQ0=0;OQ=409.27;QD=34.11;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,12:11:-44.52,-3.32,-0.00:33.11 -chr1 851493 rs2879816 G A 181.32 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=58.51;MQ0=0;OQ=1761.97;QD=35.24;SB=-837.99 GT:AD:DP:GL:GQ 1/1:0,50:46:-179.80,-13.86,-0.02:99 -chr1 851671 rs13302982 A G 540.86 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.19;MQ0=0;OQ=1746.20;QD=30.64;SB=-800.68 GT:AD:DP:GL:GQ 1/1:0,57:56:-178.25,-16.89,-0.05:99 -chr1 851956 rs13303291 T C 0.63 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=5;HaplotypeScore=0.79;MQ=59.54;MQ0=0;OQ=1647.69;QD=32.95;SB=-763.57 GT:AD:DP:GL:GQ 1/1:0,50:48:-168.38,-14.46,-0.02:99 -chr1 851987 rs13303101 A G 75.91 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=3.28;MQ=58.42;MQ0=0;OQ=1718.71;QD=29.13;SB=-814.55 GT:AD:DP:GL:GQ 1/1:0,59:55:-175.51,-16.59,-0.06:99 -chr1 852246 rs6680268 C T 87.18 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.89;MQ0=0;OQ=1535.86;QD=36.57;SB=-649.38 GT:AD:DP:GL:GQ 1/1:0,42:40:-157.19,-12.05,-0.02:99 -chr1 852252 rs6693546 A G 8.74 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=57.97;MQ0=0;OQ=1460.23;QD=31.74;SB=-743.12 GT:AD:DP:GL:GQ 1/1:0,45:42:-149.63,-12.66,-0.02:99 -chr1 852729 rs3892970 C T 119.55 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=60.00;MQ0=0;OQ=1397.63;QD=34.09;SB=-551.29 GT:AD:DP:GL:GQ 1/1:0,41:38:-143.37,-11.46,-0.02:99 -chr1 852987 rs4040604 G T 33.76 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=59.28;MQ0=0;OQ=1900.46;QD=32.77;SB=-758.90 GT:AD:DP:GL:GQ 1/1:0,58:55:-193.66,-16.57,-0.02:99 -chr1 853374 rs28626846 T C 176.60 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=56.72;MQ0=0;OQ=383.16;QD=9.12;SB=-198.44 GT:AD:DP:GL:GQ 0/1:24,18:39:-53.37,-11.77,-80.00:99 -chr1 853419 rs7410998 G A 181.10 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=49.05;MQ0=1;OQ=787.22;QD=31.49;SB=-167.67 GT:AD:DP:GL:GQ 1/1:1,24:21:-82.31,-6.33,-0.01:63.20 -chr1 853425 rs7417972 A C 3.94 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=51.24;MQ0=1;OQ=853.26;QD=25.86;SB=-413.26 GT:AD:DP:GL:GQ 1/1:1,32:29:-88.94,-8.74,-0.03:87.12 -chr1 853552 rs7417994 A G 58.67 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=47.89;MQ0=0;OQ=1045.12;QD=27.50;SB=-347.41 GT:AD:DP:GL:GQ 1/1:0,38:34:-108.13,-10.26,-0.03:99 -chr1 854589 rs2340590 T A 319.49 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.35;MQ0=0;OQ=1082.41;QD=34.92;SB=-267.73 GT:AD:DP:GL:GQ 1/1:0,31:30:-111.84,-9.04,-0.02:90.27 -chr1 854618 rs2340589 A G 2.04 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=57.47;MQ0=0;OQ=1104.04;QD=28.31;SB=-284.44 GT:AD:DP:GL:GQ 1/1:0,39:37:-114.04,-11.17,-0.05:99 -chr1 854620 rs2340588 G A 306.13 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.47;MQ0=0;OQ=1407.34;QD=36.09;SB=-288.88 GT:AD:DP:GL:GQ 1/1:0,39:36:-144.33,-10.85,-0.01:99 -chr1 854801 . G A 27.13 PASS AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=59.52;MQ0=0;OQ=1814.99;QD=37.81;SB=-848.99 GT:AD:DP:GL:GQ 1/1:0,48:46:-185.10,-13.86,-0.01:99 -chr1 856182 rs9988021 G A 414.08 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.52;MQ0=0;OQ=1807.60;QD=37.66;SB=-511.65 GT:AD:DP:GL:GQ 1/1:0,48:47:-184.36,-14.16,-0.02:99 -chr1 856756 rs2880024 T C 439.96 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.61;MQ0=0;OQ=1661.89;QD=33.92;SB=-660.32 GT:AD:DP:GL:GQ 1/1:0,49:47:-169.79,-14.16,-0.01:99 -chr1 856783 rs2341361 A G 391.16 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.49;MQ0=0;OQ=1555.14;QD=34.56;SB=-535.20 GT:AD:DP:GL:GQ 1/1:0,45:44:-159.12,-13.26,-0.02:99 -chr1 857447 rs2341360 A T 453.14 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1951.43;QD=37.53;SB=-755.79 GT:AD:DP:GL:GQ 1/1:0,51:51:-198.74,-15.36,-0.01:99 -chr1 858192 rs2341359 A C 117.47 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=55.20;MQ0=0;OQ=1194.83;QD=30.64;SB=-603.64 GT:AD:DP:GL:GQ 1/1:0,39:36:-123.08,-10.85,-0.02:99 -chr1 858267 rs13302914 C T 413.34 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.75;MQ0=0;OQ=1181.60;QD=33.76;SB=-589.79 GT:AD:DP:GL:GQ 1/1:0,35:32:-121.76,-9.65,-0.02:96.30 -chr1 858654 rs13303003 C T 431.96 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=892.14;QD=35.69;SB=-459.35 GT:AD:DP:GL:GQ 1/1:1,24:23:-92.80,-6.93,-0.01:69.23 -chr1 858754 rs13303066 A G 117.57 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=59.96;MQ0=0;OQ=1127.68;QD=32.22;SB=-537.22 GT:AD:DP:GL:GQ 1/1:0,35:32:-116.36,-9.64,-0.01:96.29 -chr1 858844 rs13303037 C T 239.71 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.36;MQ0=0;OQ=920.18;QD=35.39;SB=-178.71 GT:AD:DP:GL:GQ 1/1:0,26:25:-95.62,-7.54,-0.02:75.23 -chr1 859186 rs13303207 T C 5.25 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=2;HaplotypeScore=1.75;MQ=49.46;MQ0=0;OQ=860.62;QD=31.87;SB=-321.13 GT:AD:DP:GL:GQ 1/1:0,27:25:-89.66,-7.53,-0.01:75.22 -chr1 859220 . G T 15.33 LowQual AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=44.47;MQ0=0;QD=0.73;SB=-4.00 GT:AD:DP:GL:GQ 0/1:18,3:16:-9.63,-4.82,-45.13:48.04 -chr1 859232 rs13303328 G T 26.22 PASS AC=1;AF=0.50;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=42.12;MQ0=0;OQ=238.10;QD=15.87;SB=-41.94 GT:AD:DP:GL:GQ 0/1:4,11:12:-30.71,-3.62,-8.58:49.58 -chr1 859236 rs13303330 G C 2.57 PASS AC=1;AF=0.50;AN=2;DB;DP=15;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=42.12;MQ0=0;OQ=289.97;QD=19.33;SB=-45.46 GT:AD:DP:GL:GQ 0/1:4,11:11:-35.60,-3.32,-10.54:72.26 -chr1 859264 rs13303353 G C 17.54 PASS AC=1;AF=0.50;AN=2;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=37.87;MQ0=1;OQ=164.66;QD=13.72;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,7:8:-22.16,-2.41,-12.54:99 -chr1 859992 . G C 97.38 PASS AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=19.96;MQ0=0;OQ=93.52;QD=10.39;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,9:3:-12.84,-0.90,-0.00:9.03 -chr1 860032 . G T 37.54 PASS AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=18.43;MQ0=0;OQ=70.96;QD=5.46;SB=-10.00 GT:AD:DP:GL:GQ 1/1:8,5:3:-10.58,-0.90,-0.00:9.03 -chr1 860180 rs28451560 G A 12.62 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.95;MQ0=0;OQ=73.11;QD=18.28;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,3:3:-10.80,-0.90,-0.00:9.03 -chr1 860766 rs13303094 T C 16.65 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=59.17;MQ0=0;OQ=826.94;QD=29.53;SB=-125.69 GT:AD:DP:GL:GQ 1/1:0,28:25:-86.29,-7.54,-0.02:75.20 -chr1 861197 rs4072383 G T 400.06 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.63;MQ0=0;OQ=731.30;QD=30.47;SB=-355.85 GT:AD:DP:GL:GQ 1/1:0,24:22:-76.73,-6.63,-0.01:66.18 -chr1 861546 rs4504834 G A 1.38 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=53.70;MQ0=0;OQ=257.15;QD=25.71;SB=-133.67 GT:AD:DP:GL:GQ 1/1:0,10:8:-29.30,-2.41,-0.01:24.07 -chr1 863421 rs1110052 G T 380.03 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.84;MQ0=0;OQ=1308.42;QD=32.71;SB=-530.08 GT:AD:DP:GL:GQ 1/1:0,40:39:-134.45,-11.76,-0.03:99 -chr1 865499 . C T 29.46 LowQual AC=1;AF=0.50;AN=2;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.04;MQ0=0;QD=4.91;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,2:5:-7.74,-1.51,-8.99:62.30 -chr1 865506 rs7411115 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=5;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=55.21;MQ0=0;OQ=112.00;QD=22.40;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,4:5:-15.99,-1.51,-3.39:18.84 -chr1 866063 . G C 0.28 PASS AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.80;MQ=60.00;MQ0=0;OQ=689.42;QD=21.54;SB=-257.43 GT:AD:DP:GL:GQ 0/1:12,20:31:-81.58,-9.35,-46.59:99 -chr1 866362 rs4372192 A G 0.01 FDRtranche2.00to10.00 AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=6;HaplotypeScore=0.89;MQ=56.86;MQ0=0;OQ=933.15;QD=29.16;SB=-432.49 GT:AD:DP:GL:GQ 1/1:0,31:29:-96.92,-8.74,-0.02:87.21 -chr1 867578 rs6605066 C G 7.06 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=93.52;QD=31.17;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,3:3:-12.84,-0.90,-0.00:9.03 -chr1 867694 rs6672356 T C 3.72 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=52.96;QD=17.65;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,3:3:-8.79,-0.91,-0.01:9.01 -chr1 868792 . G C 15.78 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=42;Dels=0.02;HRun=2;HaplotypeScore=22.45;MQ=51.57;MQ0=2;QD=0.38;SB=59.22 GT:AD:DP:GL:GQ 0/1:36,4:34:-14.81,-9.96,-119.24:48.50 -chr1 869539 rs6605067 G A 19.27 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=3;HaplotypeScore=0.58;MQ=56.16;MQ0=0;OQ=2221.47;QD=39.67;SB=-1054.70 GT:AD:DP:GL:GQ 1/1:0,56:55:-225.74,-16.57,-0.01:99 -chr1 869550 rs2839 T C 133.50 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=56.64;MQ0=0;OQ=2001.68;QD=34.51;SB=-1024.77 GT:AD:DP:GL:GQ 1/1:0,58:57:-203.78,-17.17,-0.02:99 -chr1 870101 rs3748592 A G 495.56 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.39;MQ0=0;OQ=1890.23;QD=34.37;SB=-862.36 GT:AD:DP:GL:GQ 1/1:0,55:54:-192.63,-16.27,-0.02:99 -chr1 871490 rs2272757 G A 6.94 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=2.19;MQ=57.04;MQ0=0;OQ=1394.54;QD=37.69;SB=-510.64 GT:AD:DP:GL:GQ 1/1:0,37:36:-143.05,-10.85,-0.01:99 -chr1 872666 rs2340582 A G 42.12 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=4.34;MQ=59.14;MQ0=0;OQ=1872.55;QD=34.68;SB=-917.03 GT:AD:DP:GL:GQ 1/1:0,54:54:-190.86,-16.27,-0.02:99 -chr1 873488 rs4970378 A G 248.98 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.09;MQ0=0;OQ=1449.35;QD=35.35;SB=-732.23 GT:AD:DP:GL:GQ 1/1:0,41:41:-148.53,-12.35,-0.01:99 -chr1 873762 . T G 3.38 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=2;HaplotypeScore=3.82;MQ=57.58;MQ0=0;OQ=623.05;QD=12.98;SB=-319.82 GT:AD:DP:GL:GQ 0/1:24,24:47:-79.75,-14.16,-84.17:99 -chr1 873892 . A C 58.62 SnpCluster AC=1;AF=0.50;AN=2;DP=28;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=53.03;MQ0=0;QD=2.09;SB=-41.91 GT:AD:DP:GL:GQ 0/1:23,5:28:-17.58,-8.43,-82.84:91.46 -chr1 873894 . C T 82.90 SnpCluster AC=1;AF=0.50;AN=2;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.03;MQ0=0;QD=2.96;SB=-56.23 GT:AD:DP:GL:GQ 0/1:23,5:28:-20.01,-8.43,-84.10:99 -chr1 873895 . C T 48.24 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=51.20;MQ0=0;QD=1.56;SB=-25.58 GT:AD:DP:GL:GQ 0/1:26,5:28:-16.54,-8.43,-88.26:81.07 -chr1 873901 . T G 115.57 SnpCluster AC=1;AF=0.50;AN=2;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=50.52;MQ0=0;QD=3.50;SB=-81.81 GT:AD:DP:GL:GQ 0/1:26,7:33:-24.78,-9.94,-99.02:99 -chr1 873954 rs7522415 C G 8.33 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=1.52;MQ=43.40;MQ0=0;OQ=1100.42;QD=22.93;SB=-415.98 GT:AD:DP:GL:GQ 0/1:16,32:45:-126.89,-13.56,-66.90:99 -chr1 873964 rs4970455 A C 1.05 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=3;HaplotypeScore=2.44;MQ=43.46;MQ0=0;OQ=358.55;QD=6.77;SB=-63.88 GT:AD:DP:GL:GQ 0/1:38,15:50:-54.21,-15.07,-122.51:99 -chr1 874630 . G A 13.69 PASS AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=47.61;MQ0=0;OQ=1000.31;QD=21.75;SB=-485.51 GT:AD:DP:GL:GQ 0/1:17,29:46:-117.17,-13.86,-57.54:99 -chr1 874678 rs4246503 A G 158.46 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=55.11;MQ0=0;OQ=1771.59;QD=30.03;SB=-814.69 GT:AD:DP:GL:GQ 1/1:0,59:55:-180.79,-16.58,-0.04:99 -chr1 875539 rs4970377 C A 535.35 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.40;MQ0=0;OQ=2636.42;QD=36.12;SB=-1177.36 GT:AD:DP:GL:GQ 1/1:1,72:71:-267.24,-21.38,-0.02:99 -chr1 875552 rs4970452 G A 0.79 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=10.99;MQ=56.01;MQ0=0;OQ=2730.82;QD=37.93;SB=-1364.34 GT:AD:DP:GL:GQ 1/1:1,71:70:-276.69,-21.09,-0.03:99 -chr1 875562 rs4970376 A G 1.74 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=9.96;MQ=55.41;MQ0=0;OQ=2063.84;QD=30.35;SB=-1045.24 GT:AD:DP:GL:GQ 1/1:1,67:64:-210.02,-19.30,-0.05:99 -chr1 875869 rs4970375 T C 458.99 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.16;MQ0=0;OQ=1904.11;QD=35.26;SB=-492.54 GT:AD:DP:GL:GQ 1/1:0,54:53:-194.01,-15.96,-0.01:99 -chr1 876651 rs10465242 G A 37.22 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.82;MQ=58.78;MQ0=0;OQ=1853.33;QD=37.07;SB=-743.49 GT:AD:DP:GL:GQ 1/1:0,50:47:-188.93,-14.16,-0.01:99 -chr1 876680 rs10465241 C T 139.09 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.51;MQ0=0;OQ=1420.84;QD=37.39;SB=-598.99 GT:AD:DP:GL:GQ 1/1:0,38:38:-145.68,-11.45,-0.02:99 -chr1 877423 rs3748595 A C 60.20 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=1.58;MQ=58.73;MQ0=0;OQ=1913.10;QD=31.88;SB=-946.06 GT:AD:DP:GL:GQ 1/1:0,60:56:-194.92,-16.87,-0.02:99 -chr1 877664 rs3828047 A G 27.25 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=1.65;MQ=59.38;MQ0=0;OQ=1254.26;QD=33.90;SB=-513.49 GT:AD:DP:GL:GQ 1/1:0,37:36:-129.02,-10.84,-0.01:99 -chr1 878502 rs3748596 T C 69.46 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=55.26;MQ0=0;OQ=1390.46;QD=33.11;SB=-577.30 GT:AD:DP:GL:GQ 1/1:0,42:41:-142.65,-12.35,-0.02:99 -chr1 878522 rs3748597 T C 420.43 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.43;MQ0=0;OQ=1101.61;QD=31.47;SB=-433.56 GT:AD:DP:GL:GQ 1/1:0,35:33:-113.76,-9.94,-0.02:99 -chr1 879021 rs56262069 G C 15.32 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=1649.51;QD=39.27;SB=-490.55 GT:AD:DP:GL:GQ 1/1:0,42:39:-168.56,-11.76,-0.02:99 -chr1 879022 rs13302945 A C 102.46 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=60.00;MQ0=0;OQ=1299.59;QD=30.94;SB=-461.34 GT:AD:DP:GL:GQ 1/1:0,42:39:-133.56,-11.75,-0.02:99 -chr1 879501 rs13303206 G C 38.13 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=58.78;MQ0=0;OQ=1536.75;QD=40.44;SB=-636.90 GT:AD:DP:GL:GQ 1/1:0,38:37:-157.27,-11.15,-0.01:99 -chr1 879576 rs13303051 C A 192.55 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=59.05;MQ0=0;OQ=1663.22;QD=33.94;SB=-850.81 GT:AD:DP:GL:GQ 1/1:1,48:46:-169.92,-13.85,-0.01:99 -chr1 880884 rs13302957 G A 138.98 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=59.32;MQ0=0;OQ=2228.59;QD=40.52;SB=-1097.37 GT:AD:DP:GL:GQ 1/1:0,55:55:-226.45,-16.57,-0.01:99 -chr1 880922 rs13303065 C T 237.80 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=2022.89;QD=39.66;SB=-914.68 GT:AD:DP:GL:GQ 1/1:0,51:51:-205.89,-15.36,-0.01:99 -chr1 881808 rs13303106 A G 3.31 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=59.21;MQ0=0;OQ=1343.98;QD=25.36;SB=-644.88 GT:AD:DP:GL:GQ 1/1:0,53:43:-138.03,-12.97,-0.04:99 -chr1 882608 rs13303227 G A 569.43 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2091.00;QD=38.72;SB=-899.68 GT:AD:DP:GL:GQ 1/1:0,54:53:-212.70,-15.97,-0.01:99 -chr1 883143 rs4970371 G A 143.48 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=57.73;MQ0=0;OQ=2249.45;QD=37.49;SB=-940.26 GT:AD:DP:GL:GQ 1/1:0,60:57:-228.55,-17.17,-0.02:99 -chr1 883494 rs6605069 A G 58.53 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=58.62;MQ0=0;OQ=2094.43;QD=32.73;SB=-870.68 GT:AD:DP:GL:GQ 1/1:0,64:60:-213.05,-18.07,-0.02:99 -chr1 883582 rs4970445 G A 189.37 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.14;MQ0=0;OQ=1807.99;QD=33.48;SB=-798.52 GT:AD:DP:GL:GQ 1/1:1,53:49:-184.42,-14.78,-0.04:99 -chr1 884436 rs13303010 G A 1.14 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=58.63;MQ0=0;OQ=585.11;QD=34.42;SB=-52.67 GT:AD:DP:GL:GQ 1/1:0,17:16:-62.10,-4.82,-0.01:48.15 -chr1 885569 rs13303327 G A 161.74 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=61.07;MQ0=0;OQ=743.89;QD=37.19;SB=-245.00 GT:AD:DP:GL:GQ 1/1:0,20:20:-77.98,-6.03,-0.01:60.19 -chr1 887188 rs4970441 G C 2.34 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=60.00;MQ0=0;OQ=753.54;QD=39.66;SB=-289.25 GT:AD:DP:GL:GQ 1/1:0,19:18:-78.95,-5.42,-0.01:54.18 -chr1 887427 rs13303229 T C 257.67 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1210.82;QD=33.63;SB=-286.61 GT:AD:DP:GL:GQ 1/1:0,36:36:-124.69,-10.85,-0.02:99 -chr1 888186 rs6605071 T C 17.61 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=3.35;MQ=58.67;MQ0=0;OQ=1185.73;QD=33.88;SB=-618.22 GT:AD:DP:GL:GQ 1/1:0,35:34:-122.17,-10.24,-0.01:99 -chr1 889791 rs6677386 G C 245.35 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=39.71;MQ0=0;QD=16.36;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,15:8:-28.14,-2.43,-0.02:24.07 -chr1 889800 . G T 344.36 SnpCluster AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=39.12;MQ0=0;QD=28.70;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,12:11:-38.03,-3.31,-0.01:33.08 -chr1 889801 . G C 465.29 SnpCluster AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=39.12;MQ0=0;QD=38.77;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,12:11:-50.12,-3.31,-0.00:33.11 -chr1 889805 . G A 501.88 SnpCluster AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=39.71;MQ0=0;QD=33.46;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,15:14:-53.78,-4.22,-0.01:42.13 -chr1 889852 rs6669071 A C 11.50 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=44.10;MQ0=0;OQ=318.72;QD=26.56;SB=-44.57 GT:AD:DP:GL:GQ 1/1:0,12:11:-35.46,-3.31,-0.01:33.07 -chr1 889864 rs28754834 G A 283.84 Indel AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=44.79;MQ0=0;QD=31.54;SB=-93.34 GT:AD:DP:GL:GQ 1/1:0,9:8:-31.97,-2.41,-0.00:24.08 -chr1 889872 rs6704181 C G 264.94 Indel AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.00;HRun=6;HaplotypeScore=0.00;MQ=42.50;MQ0=0;QD=33.12;SB=-56.93 GT:AD:DP:GL:GQ 1/1:0,8:7:-30.07,-2.11,-0.00:21.07 -chr1 890148 rs4970435 C T 1.99 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=54.37;MQ0=0;OQ=1059.65;QD=35.32;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,29:28:-109.56,-8.43,-0.01:84.27 -chr1 890149 rs4970434 A G 1.27 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=54.37;MQ0=0;OQ=1048.98;QD=34.97;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,30:29:-108.49,-8.74,-0.01:87.27 -chr1 890161 . C G 0.39 PASS AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=1;HaplotypeScore=2.89;MQ=54.80;MQ0=0;OQ=464.33;QD=12.55;SB=-10.00 GT:AD:DP:GL:GQ 0/1:16,21:31:-59.09,-9.37,-60.44:99 -chr1 890593 rs3935066 G A 1827.67 Indel AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=54.80;MQ0=0;QD=38.08;SB=-380.50 GT:AD:DP:GL:GQ 1/1:0,48:46:-186.37,-13.86,-0.02:99 -chr1 890835 rs9697711 T G 5.70 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=3.09;MQ=57.77;MQ0=0;OQ=1087.73;QD=27.19;SB=-563.56 GT:AD:DP:GL:GQ 1/1:0,40:34:-112.38,-10.25,-0.03:99 -chr1 890886 rs13303351 T C 4.74 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=5.09;MQ=56.17;MQ0=0;OQ=1868.96;QD=27.89;SB=-762.95 GT:AD:DP:GL:GQ 1/1:0,67:61:-190.56,-18.41,-0.08:99 -chr1 891422 rs13303160 G A 335.14 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.11;MQ0=0;OQ=1009.81;QD=38.84;SB=-456.35 GT:AD:DP:GL:GQ 1/1:0,26:26:-104.57,-7.83,-0.01:78.26 -chr1 891470 rs13302996 C G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=6;HaplotypeScore=0.00;MQ=58.81;MQ0=0;OQ=1288.09;QD=33.03;SB=-383.20 GT:AD:DP:GL:GQ 1/1:0,39:34:-132.43,-10.27,-0.04:99 -chr1 891515 rs2879814 A G 4.78 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=3.80;MQ=59.05;MQ0=0;OQ=1360.05;QD=30.91;SB=-420.15 GT:AD:DP:GL:GQ 1/1:0,44:40:-139.61,-12.06,-0.03:99 -chr1 892627 rs28416780 C G 985.40 Indel AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=3.73;MQ=60.94;MQ0=0;QD=29.86;SB=-516.60 GT:AD:DP:GL:GQ 1/1:0,33:26:-102.16,-7.86,-0.03:78.25 -chr1 892860 rs7524174 G A 607.69 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=2039.21;QD=35.78;SB=-884.69 GT:AD:DP:GL:GQ 1/1:0,57:52:-207.52,-15.67,-0.02:99 -chr1 893108 rs28690976 A G 19.77 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=1.31;MQ=59.50;MQ0=0;OQ=1221.87;QD=33.02;SB=-508.55 GT:AD:DP:GL:GQ 1/1:0,37:34:-125.78,-10.24,-0.01:99 -chr1 893184 rs6669800 G A 536.30 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=1821.94;QD=35.04;SB=-645.66 GT:AD:DP:GL:GQ 1/1:0,52:47:-185.80,-14.16,-0.02:99 -chr1 895023 rs7555426 C T 0.47 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.03;HRun=0;HaplotypeScore=12.36;MQ=55.36;MQ0=0;OQ=2346.52;QD=37.25;SB=-860.64 GT:AD:DP:GL:GQ 1/1:0,60:62:-238.26,-18.08,-0.02:99 -chr1 895028 rs7522959 A G 167.42 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=55.43;MQ0=0;OQ=2120.68;QD=33.14;SB=-824.97 GT:AD:DP:GL:GQ 1/1:0,63:62:-215.68,-18.68,-0.03:99 -chr1 899282 rs28548431 C T 198.63 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=59.43;MQ0=0;OQ=508.80;QD=15.42;SB=-237.75 GT:AD:DP:GL:GQ 0/1:15,18:31:-63.51,-9.35,-46.57:99 -chr1 899418 rs2340594 A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=6;HaplotypeScore=0.00;MQ=59.44;MQ0=0;OQ=1231.29;QD=30.03;SB=-602.23 GT:AD:DP:GL:GQ 1/1:0,41:40:-126.75,-12.06,-0.03:99 -chr1 899631 rs2340593 A G 106.26 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1110.83;QD=35.83;SB=-387.48 GT:AD:DP:GL:GQ 1/1:0,31:31:-114.68,-9.34,-0.01:93.28 -chr1 900257 rs28477686 C T 200.51 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=716.99;QD=16.30;SB=-337.87 GT:AD:DP:GL:GQ 0/1:20,24:40:-87.03,-12.05,-62.41:99 -chr1 900301 rs6685581 A G 61.67 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=58.90;MQ0=0;OQ=1025.59;QD=26.99;SB=-469.48 GT:AD:DP:GL:GQ 1/1:0,38:34:-106.18,-10.26,-0.04:99 -chr1 900766 rs4970429 T C 21.40 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=60.00;MQ0=0;OQ=1255.50;QD=27.90;SB=-520.11 GT:AD:DP:GL:GQ 1/1:0,45:41:-129.18,-12.37,-0.04:99 -chr1 901458 rs7417106 A G 62.69 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=56.69;MQ0=0;OQ=1131.68;QD=22.63;SB=-392.29 GT:AD:DP:GL:GQ 1/1:0,48:37:-116.79,-11.16,-0.04:99 -chr1 901912 rs9803103 T C 68.99 PASS AC=1;AF=0.50;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.16;MQ0=0;OQ=72.78;QD=4.85;SB=-10.00 GT:AD:DP:GL:GQ 0/1:10,5:15:-15.08,-4.52,-39.48:99 -chr1 901966 rs9803017 G A 5.21 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=48.89;MQ0=0;OQ=164.19;QD=23.46;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,5:5:-19.98,-1.51,-0.00:15.05 -chr1 903262 . C T 47.02 LowQual AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=47.12;MQ0=0;QD=23.51;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,2:2:-8.11,-0.60,-0.00:6.02 -chr1 903752 rs2340596 G A 213.15 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=58.63;MQ0=0;OQ=437.08;QD=12.86;SB=-239.73 GT:AD:DP:GL:GQ 0/1:19,15:34:-57.25,-10.26,-59.16:99 -chr1 904055 rs2340595 G C 462.22 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.45;MQ0=0;OQ=1540.41;QD=36.68;SB=-743.79 GT:AD:DP:GL:GQ 1/1:0,42:38:-157.65,-11.46,-0.02:99 -chr1 904196 rs13302979 C G 14.38 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=2;HaplotypeScore=1.72;MQ=60.00;MQ0=0;OQ=238.96;QD=11.95;SB=-110.33 GT:AD:DP:GL:GQ 0/1:12,8:19:-32.91,-5.73,-43.20:99 -chr1 904715 rs13303368 G C 150.50 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=58.83;MQ0=0;OQ=429.52;QD=11.93;SB=-165.16 GT:AD:DP:GL:GQ 0/1:21,15:34:-56.48,-10.25,-87.94:99 -chr1 904739 rs13302983 T C 1.98 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=3.25;MQ=59.49;MQ0=0;OQ=1146.65;QD=25.48;SB=-382.24 GT:AD:DP:GL:GQ 1/1:0,45:37:-118.29,-11.16,-0.04:99 -chr1 904803 rs13303033 T C 97.04 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=3.63;MQ=59.44;MQ0=0;OQ=505.70;QD=12.33;SB=-138.55 GT:AD:DP:GL:GQ 0/1:20,21:40:-65.92,-12.07,-67.38:99 -chr1 905090 rs13303355 A G 1.94 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=8.34;MQ=56.14;MQ0=0;OQ=1675.03;QD=29.39;SB=-822.95 GT:AD:DP:GL:GQ 1/1:1,56:50:-171.12,-15.07,-0.03:99 -chr1 906412 rs6660139 A G 108.89 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=60.00;MQ0=0;OQ=506.06;QD=14.88;SB=-146.57 GT:AD:DP:GL:GQ 0/1:14,20:33:-63.84,-9.95,-51.10:99 -chr1 906453 rs28566954 G A 282.05 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.36;MQ0=0;OQ=491.61;QD=13.66;SB=-253.24 GT:AD:DP:GL:GQ 0/1:20,16:35:-62.99,-10.55,-63.70:99 -chr1 906697 rs6694632 G A 262.48 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.25;MQ0=0;OQ=424.41;QD=13.69;SB=-233.73 GT:AD:DP:GL:GQ 0/1:16,15:29:-54.46,-8.74,-53.31:99 -chr1 906923 rs6605058 C G 4.01 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=59.45;MQ0=0;OQ=1718.51;QD=40.92;SB=-739.75 GT:AD:DP:GL:GQ 1/1:0,42:41:-175.45,-12.36,-0.02:99 -chr1 907503 rs41285816 G A 149.42 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=58.47;MQ0=0;OQ=650.11;QD=15.12;SB=-327.85 GT:AD:DP:GL:GQ 0/1:21,22:41:-80.65,-12.35,-76.53:99 -chr1 908101 rs28552711 C G 269.46 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.03;MQ0=0;OQ=561.89;QD=11.71;SB=-234.09 GT:AD:DP:GL:GQ 0/1:27,21:45:-73.04,-13.57,-111.91:99 -chr1 908247 rs13303118 G T 75.04 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.58;MQ0=0;OQ=378.28;QD=8.60;SB=-112.78 GT:AD:DP:GL:GQ 0/1:27,17:40:-53.17,-12.06,-75.89:99 -chr1 908436 rs2341354 A G 288.04 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=59.09;MQ0=0;OQ=687.85;QD=13.49;SB=-217.36 GT:AD:DP:GL:GQ 0/1:22,29:47:-86.23,-14.17,-83.30:99 -chr1 908990 rs28469033 T C 203.63 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=1.56;MQ=58.06;MQ0=0;OQ=712.75;QD=12.29;SB=-242.27 GT:AD:DP:GL:GQ 0/1:29,28:55:-91.13,-16.57,-114.97:99 -chr1 909282 rs6605059 T C 230.41 PASS AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=181.71;QD=7.57;SB=-100.01 GT:AD:DP:GL:GQ 0/1:13,11:22:-28.09,-6.63,-51.27:99 -chr1 909352 rs61606412 C T 41.71 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=53.76;MQ0=0;OQ=576.99;QD=16.03;SB=-77.09 GT:AD:DP:GL:GQ 0/1:16,19:32:-70.62,-9.64,-54.85:99 -chr1 909718 . G A 32.42 PASS AC=1;AF=0.50;AN=2;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.35;MQ0=0;OQ=82.61;QD=6.35;SB=-28.51 GT:AD:DP:GL:GQ 0/1:9,4:13:-15.46,-3.92,-29.36:99 -chr1 909851 . C T 379.69 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=2;HaplotypeScore=14.99;MQ=38.66;MQ0=0;QD=8.44;SB=-209.86 GT:AD:DP:GL:GQ 0/1:32,13:38:-52.70,-11.44,-90.66:99 -chr1 909854 . C A 33.53 Indel;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=23.31;MQ=39.61;MQ0=0;QD=0.73;SB=-35.83 GT:AD:DP:GL:GQ 0/1:41,3:18:-18.90,-12.26,-52.66:66.37 -chr1 909858 . T A 34.25 Indel;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=1;HaplotypeScore=85.24;MQ=39.71;MQ0=0;QD=0.69;SB=-24.32 GT:AD:DP:GL:GQ 0/1:46,4:25:-14.24,-7.53,-79.28:67.09 -chr1 909861 rs2341357 A C 442.96 Indel;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=92.23;MQ=37.93;MQ0=0;QD=9.23;SB=-187.18 GT:AD:DP:GL:GQ 0/1:13,31:32:-70.70,-23.12,-57.83:99 -chr1 909862 . T C 28.94 Indel;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=90.34;MQ=37.54;MQ0=1;QD=0.59;SB=-27.89 GT:AD:DP:GL:GQ 0/1:45,4:23:-13.11,-6.93,-76.03:61.77 -chr1 909865 rs55746336 A C 368.04 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=65.88;MQ=38.28;MQ0=1;QD=7.51;SB=-150.94 GT:AD:DP:GL:GQ 0/1:20,29:28:-48.52,-8.43,-49.13:99 -chr1 910511 rs6677020 T C 126.81 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=58.99;MQ0=0;OQ=1842.74;QD=30.71;SB=-555.07 GT:AD:DP:GL:GQ 1/1:0,60:57:-187.90,-17.18,-0.04:99 -chr1 910596 rs6677131 T C 281.37 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.54;MQ0=0;OQ=1029.24;QD=25.10;SB=-459.07 GT:AD:DP:GL:GQ 1/1:0,41:35:-106.55,-10.56,-0.04:99 -chr1 911433 rs6662128 T C 65.09 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=42.74;MQ0=0;OQ=1332.64;QD=27.76;SB=-494.18 GT:AD:DP:GL:GQ 1/1:0,48:43:-136.89,-12.97,-0.04:99 -chr1 911523 rs6703008 C T 253.53 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=58.87;MQ0=0;OQ=592.10;QD=14.44;SB=-247.55 GT:AD:DP:GL:GQ 0/1:21,20:40:-74.55,-12.06,-68.34:99 -chr1 911579 rs13303278 C A 321.21 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.12;MQ=57.82;MQ0=0;OQ=846.22;QD=16.27;SB=-412.14 GT:AD:DP:GL:GQ 0/1:22,30:49:-102.67,-14.76,-65.25:99 -chr1 911872 rs6693747 G A 247.15 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=57.81;MQ0=0;OQ=692.72;QD=11.94;SB=-247.55 GT:AD:DP:GL:GQ 0/1:34,24:51:-87.93,-15.37,-94.90:99 -chr1 912939 rs6605060 A G 422.47 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=1569.95;QD=29.62;SB=-431.82 GT:AD:DP:GL:GQ 1/1:0,53:52:-160.64,-15.69,-0.06:99 -chr1 913322 rs9442609 A G 120.23 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.67;MQ=58.95;MQ0=0;OQ=1780.01;QD=28.25;SB=-752.61 GT:AD:DP:GL:GQ 1/1:0,63:58:-181.64,-17.49,-0.06:99 -chr1 913612 rs9442610 T C 76.57 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=58.45;MQ0=1;OQ=2496.82;QD=28.70;SB=-1150.17 GT:AD:DP:GL:GQ 1/1:1,86:79:-253.33,-23.82,-0.07:99 -chr1 913974 rs28447224 T A 288.86 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=58.45;MQ0=0;OQ=731.87;QD=12.20;SB=-322.51 GT:AD:DP:GL:GQ 0/1:33,27:58:-93.94,-17.47,-123.87:99 -chr1 914034 . A T 3.99 PASS AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.53;MQ0=0;OQ=328.12;QD=3.57;SB=-36.46 GT:AD:DP:GL:GQ 0/1:74,18:90:-63.21,-27.12,-275.61:99 -chr1 914043 . A T 0.15 PASS AC=1;AF=0.50;AN=2;DP=97;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=53.25;MQ0=0;OQ=310.60;QD=3.20;SB=-88.90 GT:AD:DP:GL:GQ 0/1:71,26:82:-59.05,-24.71,-248.58:99 -chr1 914057 rs36034299 T A 46.78 PASS AC=1;AF=0.50;AN=2;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=4.71;MQ=52.48;MQ0=0;OQ=1254.45;QD=10.20;SB=-515.06 GT:AD:DP:GL:GQ 0/1:78,44:120:-164.87,-36.14,-292.57:99 -chr1 914062 rs34208189 G T 4.13 PASS AC=1;AF=0.50;AN=2;DB;DP=120;Dels=0.00;HRun=1;HaplotypeScore=4.71;MQ=52.50;MQ0=0;OQ=1304.79;QD=10.87;SB=-551.46 GT:AD:DP:GL:GQ 0/1:72,47:118:-172.13,-38.37,-252.01:99 -chr1 914098 rs28489602 G A 178.03 PASS AC=1;AF=0.50;AN=2;DB;DP=123;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=53.92;MQ0=0;OQ=1142.45;QD=9.29;SB=-414.29 GT:AD:DP:GL:GQ 0/1:80,43:115:-152.18,-34.65,-273.57:99 -chr1 914111 . T G 3.17 PASS AC=1;AF=0.50;AN=2;DP=129;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=54.02;MQ0=0;OQ=717.31;QD=5.56;SB=-222.67 GT:AD:DP:GL:GQ 0/1:95,34:128:-113.56,-38.55,-355.41:99 -chr1 914118 rs59424352 T G 15.06 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=131;Dels=0.00;HRun=2;HaplotypeScore=1.56;MQ=54.89;MQ0=0;QD=0.11;SB=-22.32 GT:AD:DP:GL:GQ 0/1:103,28:116:-39.71,-34.94,-387.42:47.76 -chr1 914126 rs28607403 A T 0.47 PASS AC=1;AF=0.50;AN=2;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=56.46;MQ0=0;OQ=177.88;QD=1.41;SB=-25.34 GT:AD:DP:GL:GQ 0/1:106,20:118:-56.62,-35.55,-387.33:99 -chr1 914231 rs35562283 C T 2.83 PASS AC=2;AF=1.00;AN=2;DB;DP=100;Dels=0.00;HRun=2;HaplotypeScore=2.10;MQ=59.39;MQ0=0;OQ=4072.19;QD=40.72;SB=-2034.20 GT:AD:DP:GL:GQ 1/1:0,100:100:-406.22,-30.12,-0.03:99 -chr1 914391 rs34712273 C A 51.10 PASS AC=1;AF=0.50;AN=2;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=5.23;MQ=56.94;MQ0=0;OQ=1123.83;QD=11.59;SB=-531.23 GT:AD:DP:GL:GQ 0/1:55,42:95:-144.28,-28.62,-196.31:99 -chr1 914466 rs28422907 T C 454.63 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=3679.99;QD=36.08;SB=-1782.71 GT:AD:DP:GL:GQ 1/1:0,102:101:-367.00,-30.42,-0.03:99 -chr1 914492 rs28622096 A G 82.91 PASS AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.55;MQ0=0;OQ=2947.74;QD=32.04;SB=-1451.63 GT:AD:DP:GL:GQ 1/1:0,92:91:-298.43,-27.44,-0.07:99 -chr1 914761 rs6665000 C A 607.33 PASS AC=2;AF=1.00;AN=2;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3789.11;QD=37.15;SB=-1446.45 GT:AD:DP:GL:GQ 1/1:0,101:101:-377.91,-33.59,-3.42:99 -chr1 915547 rs6605061 T C 196.60 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=57.81;MQ0=0;OQ=1982.79;QD=33.05;SB=-855.97 GT:AD:DP:GL:GQ 1/1:0,60:57:-201.89,-17.17,-0.03:99 -chr1 916214 rs6671243 C T 469.30 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=2468.85;QD=39.82;SB=-737.98 GT:AD:DP:GL:GQ 1/1:0,62:61:-250.48,-18.37,-0.01:99 -chr1 916294 rs4970403 A T 304.51 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.55;MQ=59.43;MQ0=0;OQ=2680.54;QD=36.72;SB=-1154.05 GT:AD:DP:GL:GQ 1/1:1,72:71:-271.66,-21.39,-0.02:99 -chr1 916484 rs4970351 A C 485.68 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.76;MQ0=0;OQ=1740.98;QD=35.53;SB=-550.05 GT:AD:DP:GL:GQ 1/1:0,49:49:-177.70,-14.76,-0.01:99 -chr1 917172 rs2341362 T C 555.17 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1855.09;QD=30.92;SB=-890.64 GT:AD:DP:GL:GQ 1/1:0,60:59:-189.15,-17.80,-0.06:99 -chr1 917604 rs6665587 G A 343.04 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.08;MQ0=0;OQ=746.63;QD=16.23;SB=-250.74 GT:AD:DP:GL:GQ 0/1:23,23:45:-91.50,-13.55,-86.19:99 -chr1 918279 . G A 19.72 PASS AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=64.12;MQ0=0;OQ=347.49;QD=8.91;SB=-127.57 GT:AD:DP:GL:GQ 0/1:25,14:32:-47.68,-9.65,-62.78:99 -chr1 918383 rs35002855 A G 36.80 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.30;MQ0=0;OQ=923.20;QD=27.98;SB=-310.47 GT:AD:DP:GL:GQ 1/1:0,33:30:-95.93,-9.05,-0.03:90.20 -chr1 918441 rs28394749 G A 367.26 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.34;MQ0=0;OQ=1345.86;QD=38.45;SB=-480.97 GT:AD:DP:GL:GQ 1/1:0,35:35:-138.18,-10.55,-0.01:99 -chr1 918699 rs9777703 C T 463.81 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.88;MQ0=0;OQ=1525.43;QD=38.14;SB=-621.02 GT:AD:DP:GL:GQ 1/1:0,40:39:-156.14,-11.75,-0.01:99 -chr1 919053 rs9777939 A G 223.28 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.27;MQ0=0;OQ=1351.32;QD=33.78;SB=-678.95 GT:AD:DP:GL:GQ 1/1:0,40:38:-138.73,-11.45,-0.01:99 -chr1 919179 rs9777893 C T 85.58 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=55.86;MQ0=0;OQ=1631.07;QD=35.46;SB=-540.88 GT:AD:DP:GL:GQ 1/1:0,46:44:-166.72,-13.27,-0.03:99 -chr1 919184 rs13302916 A C 0.11 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=5;HaplotypeScore=2.13;MQ=54.60;MQ0=0;OQ=1536.74;QD=31.36;SB=-480.03 GT:AD:DP:GL:GQ 1/1:0,49:45:-157.28,-13.56,-0.02:99 -chr1 919190 rs13302924 A G 46.51 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=54.92;MQ0=0;OQ=1263.79;QD=24.30;SB=-518.21 GT:AD:DP:GL:GQ 1/1:0,52:42:-130.02,-12.68,-0.06:99 -chr1 919921 . C A 110.32 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=58.99;MQ0=0;OQ=1041.89;QD=15.10;SB=-490.89 GT:AD:DP:GL:GQ 0/1:34,35:65:-127.06,-19.58,-99.23:99 -chr1 920192 rs3128108 C T 194.44 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=58.69;MQ0=0;OQ=711.37;QD=14.23;SB=-187.15 GT:AD:DP:GL:GQ 0/1:24,26:47:-88.59,-14.17,-77.59:99 -chr1 920240 rs3128109 C T 215.53 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.70;MQ0=0;OQ=1131.05;QD=17.95;SB=-367.88 GT:AD:DP:GL:GQ 0/1:29,34:63:-135.38,-18.99,-92.17:99 -chr1 920396 rs3128110 C G 210.15 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.83;MQ=58.26;MQ0=0;OQ=1157.59;QD=14.84;SB=-599.54 GT:AD:DP:GL:GQ 0/1:41,37:77:-142.27,-23.22,-177.91:99 -chr1 920430 rs3121574 A G 364.31 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.06;MQ0=0;OQ=652.89;QD=9.60;SB=-349.53 GT:AD:DP:GL:GQ 0/1:41,27:65:-88.16,-19.59,-156.95:99 -chr1 920614 rs3128111 C G 139.72 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.84;MQ=58.99;MQ0=0;OQ=1461.73;QD=21.18;SB=-736.36 GT:AD:DP:GL:GQ 0/1:28,41:68:-169.95,-20.49,-124.60:99 -chr1 920786 rs2710882 A G 12.29 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=2.97;MQ=49.62;MQ0=0;OQ=1291.93;QD=28.71;SB=-670.84 GT:AD:DP:GL:GQ 1/1:0,45:41:-132.82,-12.37,-0.04:99 -chr1 920877 rs2710881 A G 324.40 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.30;MQ0=0;OQ=966.43;QD=26.85;SB=-364.34 GT:AD:DP:GL:GQ 1/1:0,36:31:-100.25,-9.35,-0.03:93.22 -chr1 921029 rs2710880 A G 58.88 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=3.24;MQ=56.56;MQ0=0;OQ=562.50;QD=14.06;SB=-270.38 GT:AD:DP:GL:GQ 0/1:15,25:36:-70.39,-10.85,-55.63:99 -chr1 921225 rs2799060 G A 150.73 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=3.04;MQ=54.08;MQ0=0;OQ=614.91;QD=17.08;SB=-332.87 GT:AD:DP:GL:GQ 0/1:15,21:29:-73.51,-8.74,-35.50:99 -chr1 921371 rs2799061 T A 126.55 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=52.82;MQ0=0;OQ=1479.30;QD=33.62;SB=-589.54 GT:AD:DP:GL:GQ 1/1:0,44:41:-151.53,-12.35,-0.02:99 -chr1 921411 rs2799062 G T 122.68 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=53.36;MQ0=0;OQ=738.91;QD=16.06;SB=-235.96 GT:AD:DP:GL:GQ 0/1:19,27:43:-90.13,-12.95,-62.40:99 -chr1 921593 rs2005437 A G 3.88 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=2;HaplotypeScore=3.71;MQ=50.61;MQ0=0;OQ=1146.23;QD=32.75;SB=-497.46 GT:AD:DP:GL:GQ 1/1:0,35:33:-118.22,-9.94,-0.01:99 -chr1 921666 rs1891908 C T 2.08 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=4.85;MQ=32.06;MQ0=2;OQ=160.89;QD=4.35;SB=-6.43 GT:AD:DP:GL:GQ 0/1:19,17:19:-25.09,-5.72,-45.39:99 -chr1 921743 rs2710878 G A 0.08 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=13.34;MQ=30.42;MQ0=11;OQ=92.22;QD=1.77;SB=38.12 GT:AD:DP:GL:GQ 0/1:43,9:31:-21.85,-9.35,-87.56:99 -chr1 921798 rs59581901 T C 0.08 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=13.36;MQ=44.02;MQ0=2;OQ=265.71;QD=4.66;SB=-27.22 GT:AD:DP:GL:GQ 0/1:37,20:42:-42.52,-12.66,-114.67:99 -chr1 921802 rs13303155 G A 0.11 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=12.88;MQ=43.29;MQ0=2;OQ=165.28;QD=2.85;SB=-96.56 GT:AD:DP:GL:GQ 0/1:44,13:47:-33.98,-14.17,-116.58:99 -chr1 921917 rs13302969 G T 74.55 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.19;MQ=21.41;MQ0=5;OQ=283.37;QD=8.86;SB=-65.73 GT:AD:DP:GL:GQ 0/1:6,26:13:-35.54,-3.92,-11.08:71.59 -chr1 921950 rs4350142 T G 3.51 PASS AC=1;AF=0.50;AN=2;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=16.76;MQ0=5;OQ=77.67;QD=4.32;SB=-39.55 GT:AD:DP:GL:GQ 0/1:13,5:9:-13.76,-2.71,-16.22:99 -chr1 922320 rs1891910 G A 55.08 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=1.92;MQ=54.96;MQ0=0;OQ=908.58;QD=18.93;SB=-365.40 GT:AD:DP:GL:GQ 0/1:20,28:47:-108.30,-14.16,-73.49:99 -chr1 922481 rs3128112 C G 140.23 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.00;MQ0=0;OQ=2826.91;QD=42.19;SB=-1373.36 GT:AD:DP:GL:GQ 1/1:0,67:66:-286.30,-19.89,-0.02:99 -chr1 923653 rs9442392 G A 34.86 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=57.66;MQ0=0;OQ=346.01;QD=17.30;SB=-99.62 GT:AD:DP:GL:GQ 0/1:8,12:18:-43.31,-5.43,-22.69:99 -chr1 923962 rs2710867 G C 179.76 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.52;MQ0=0;OQ=491.87;QD=30.74;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,16:14:-52.79,-4.24,-0.02:42.13 -chr1 923969 rs2799063 A G 177.71 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.52;MQ0=0;OQ=467.35;QD=31.16;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,15:15:-50.33,-4.52,-0.01:45.12 -chr1 923984 rs2488989 G A 4.47 PASS AC=1;AF=0.50;AN=2;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=52.45;MQ0=0;OQ=54.72;QD=4.21;SB=-10.00 GT:AD:DP:GL:GQ 0/1:9,4:12:-12.37,-3.61,-31.32:87.56 -chr1 924007 rs9697551 C G 2.08 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=52.65;MQ0=0;OQ=378.82;QD=37.88;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,10:10:-41.47,-3.01,-0.00:30.10 -chr1 925085 rs2298214 C A 41.67 PASS AC=1;AF=0.50;AN=2;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=126.82;QD=15.85;SB=-10.00 GT:AD:DP:GL:GQ 0/1:3,5:8:-18.37,-2.41,-10.50:80.94 -chr1 925696 rs3128115 C G 0.04 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=4;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=341.24;QD=28.44;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,12:10:-37.72,-3.03,-0.02:30.09 -chr1 925974 rs1936360 C T 39.87 PASS AC=1;AF=0.50;AN=2;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=58.35;MQ0=0;OQ=214.61;QD=12.62;SB=-42.53 GT:AD:DP:GL:GQ 0/1:9,8:14:-28.97,-4.22,-22.12:99 -chr1 926057 rs3121570 A G 2.88 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=311.77;QD=28.34;SB=-100.02 GT:AD:DP:GL:GQ 1/1:0,11:11:-34.77,-3.32,-0.01:33.06 -chr1 926073 rs3121569 C A 189.59 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.87;MQ0=0;OQ=295.10;QD=26.83;SB=-77.88 GT:AD:DP:GL:GQ 1/1:0,11:10:-33.10,-3.01,-0.01:30.07 -chr1 927551 rs2489000 T C 23.57 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.20;MQ0=0;OQ=869.96;QD=30.00;SB=-383.48 GT:AD:DP:GL:GQ 1/1:0,29:26:-90.60,-7.84,-0.01:78.21 -chr1 927679 . G T 11.95 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=20;HaplotypeScore=4.44;MQ=51.49;MQ0=1;QD=0.30;SB=29.12 GT:AD:DP:GL:GQ 0/1:35,5:33:-14.39,-9.94,-101.16:44.50 -chr1 927979 rs2710869 T G 68.27 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=52.06;MQ0=0;OQ=1400.53;QD=31.83;SB=-711.32 GT:AD:DP:GL:GQ 1/1:0,44:41:-143.66,-12.35,-0.02:99 -chr1 927988 rs2710868 G A 255.30 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=53.36;MQ0=0;OQ=410.87;QD=10.02;SB=-73.54 GT:AD:DP:GL:GQ 0/1:27,14:38:-55.83,-11.46,-75.32:99 -chr1 928076 rs2799058 A G 513.54 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.12;MQ0=1;OQ=1982.35;QD=34.78;SB=-956.40 GT:AD:DP:GL:GQ 1/1:0,57:56:-201.84,-16.87,-0.02:99 -chr1 929868 rs2799056 A G 83.40 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=60.00;MQ0=0;OQ=292.67;QD=13.30;SB=-94.98 GT:AD:DP:GL:GQ 0/1:10,12:19:-38.28,-5.73,-31.90:99 -chr1 929959 rs4503294 C T 66.68 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=59.48;MQ0=0;OQ=871.55;QD=19.81;SB=-434.84 GT:AD:DP:GL:GQ 0/1:17,27:40:-102.50,-12.06,-44.62:99 -chr1 931147 rs3128116 C T 186.46 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=58.74;MQ0=0;OQ=584.87;QD=15.81;SB=-318.85 GT:AD:DP:GL:GQ 0/1:17,20:34:-72.02,-10.25,-50.30:99 -chr1 931197 rs57683598 G A 242.64 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=58.63;MQ0=0;OQ=443.86;QD=13.05;SB=-202.91 GT:AD:DP:GL:GQ 0/1:19,15:33:-57.62,-9.95,-57.41:99 -chr1 931402 rs9778087 C T 103.12 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.28;MQ=58.18;MQ0=0;OQ=521.73;QD=14.49;SB=-147.61 GT:AD:DP:GL:GQ 0/1:17,19:30:-64.50,-9.04,-41.68:99 -chr1 933113 rs3121568 C T 81.24 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=27.66;MQ0=1;OQ=764.02;QD=34.73;SB=-301.68 GT:AD:DP:GL:GQ 1/1:1,21:20:-79.99,-6.02,-0.00:60.20 -chr1 933331 rs3121567 T C 90.20 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=52.92;MQ0=0;OQ=1930.66;QD=28.39;SB=-605.93 GT:AD:DP:GL:GQ 1/1:0,67:59:-196.69,-17.79,-0.04:99 -chr1 933550 rs2465140 G C 10.53 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.74;MQ=52.98;MQ0=0;OQ=1826.77;QD=24.04;SB=-482.83 GT:AD:DP:GL:GQ 0/1:29,47:76:-208.87,-22.91,-115.72:99 -chr1 933770 rs2488992 C G 622.99 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.05;MQ0=0;OQ=2496.05;QD=39.00;SB=-1249.63 GT:AD:DP:GL:GQ 1/1:1,63:62:-253.23,-18.70,-0.04:99 -chr1 933831 rs13303313 C T 77.45 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.33;MQ=54.98;MQ0=1;OQ=1022.40;QD=21.30;SB=-421.46 GT:AD:DP:GL:GQ 0/1:17,31:46:-119.39,-13.87,-49.73:99 -chr1 934427 rs3128117 T C 70.90 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=3.79;MQ=59.48;MQ0=0;OQ=1012.81;QD=12.50;SB=-424.88 GT:AD:DP:GL:GQ 0/1:46,35:81:-128.96,-24.40,-186.84:99 -chr1 934959 rs3135457 C T 611.86 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.45;MQ0=0;OQ=2185.20;QD=35.82;SB=-904.70 GT:AD:DP:GL:GQ 1/1:0,61:55:-222.12,-16.57,-0.02:99 -chr1 934974 rs13303172 C T 140.68 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=58.59;MQ0=0;OQ=2216.02;QD=34.63;SB=-887.19 GT:AD:DP:GL:GQ 1/1:0,63:58:-225.21,-17.48,-0.03:99 -chr1 935337 rs3121566 C T 64.84 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=2.42;MQ=57.82;MQ0=0;OQ=2650.36;QD=37.33;SB=-1265.29 GT:AD:DP:GL:GQ 1/1:0,71:68:-268.65,-20.49,-0.03:99 -chr1 935475 rs3121565 C T 3.95 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=5.58;MQ=54.82;MQ0=0;OQ=1712.26;QD=33.57;SB=-826.14 GT:AD:DP:GL:GQ 1/1:0,51:46:-174.83,-13.86,-0.02:99 -chr1 935997 rs2341364 T G 377.30 Indel AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=10.97;MQ=57.32;MQ0=2;QD=7.12;SB=-202.78 GT:AD:DP:GL:GQ 0/1:37,16:48:-55.47,-14.46,-118.77:99 -chr1 935998 rs9723307 T G 915.61 Indel AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=11.45;MQ=57.32;MQ0=2;QD=17.28;SB=-353.60 GT:AD:DP:GL:GQ 0/1:21,32:48:-109.30,-14.46,-57.43:99 -chr1 936897 rs2465126 G A 228.15 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.52;MQ0=0;OQ=1823.18;QD=37.98;SB=-798.06 GT:AD:DP:GL:GQ 1/1:0,48:47:-185.92,-14.16,-0.02:99 -chr1 937401 rs2465125 C T 186.23 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.20;MQ0=0;OQ=2163.80;QD=37.31;SB=-987.00 GT:AD:DP:GL:GQ 1/1:0,58:56:-219.99,-16.88,-0.02:99 -chr1 938555 rs2341365 G A 140.11 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=58.55;MQ0=0;OQ=1650.26;QD=34.38;SB=-693.43 GT:AD:DP:GL:GQ 1/1:0,47:44:-168.63,-13.26,-0.02:99 -chr1 938733 rs4615788 C G 63.76 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.65;MQ=59.05;MQ0=0;OQ=1777.68;QD=37.82;SB=-661.48 GT:AD:DP:GL:GQ 1/1:0,47:45:-181.39,-13.58,-0.03:99 -chr1 938784 rs15842 T C 63.77 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=51.15;MQ0=0;OQ=1180.61;QD=25.67;SB=-593.57 GT:AD:DP:GL:GQ 1/1:0,46:38:-121.68,-11.46,-0.04:99 -chr1 939098 rs2465124 G A 101.68 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=58.32;MQ0=0;OQ=1385.28;QD=35.52;SB=-635.85 GT:AD:DP:GL:GQ 1/1:0,39:36:-142.13,-10.85,-0.02:99 -chr1 939471 rs1921 G A 210.99 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=59.46;MQ0=0;OQ=818.95;QD=19.05;SB=-428.80 GT:AD:DP:GL:GQ 0/1:17,25:41:-97.53,-12.36,-57.36:99 -chr1 939517 rs8997 A G 93.12 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.52;MQ=58.71;MQ0=0;OQ=1127.57;QD=31.32;SB=-511.18 GT:AD:DP:GL:GQ 1/1:0,36:33:-116.36,-9.94,-0.02:99 -chr1 939788 rs2799070 C T 122.12 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=60.00;MQ0=0;OQ=1513.64;QD=36.92;SB=-701.35 GT:AD:DP:GL:GQ 1/1:0,40:39:-154.96,-11.75,-0.01:99 -chr1 940106 rs1891906 A C 58.36 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=59.38;MQ0=0;OQ=496.04;QD=13.41;SB=-49.04 GT:AD:DP:GL:GQ 0/1:19,18:37:-64.03,-11.14,-68.15:99 -chr1 940540 rs9331223 T C 228.94 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=58.40;MQ0=0;OQ=564.77;QD=13.45;SB=-287.31 GT:AD:DP:GL:GQ 0/1:17,25:39:-71.52,-11.76,-66.74:99 -chr1 940579 rs2799069 A T 132.14 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=57.66;MQ0=0;OQ=1217.27;QD=32.90;SB=-595.76 GT:AD:DP:GL:GQ 1/1:0,37:34:-125.32,-10.24,-0.01:99 -chr1 941146 rs9442363 C T 200.29 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.82;MQ=29.19;MQ0=1;OQ=502.68;QD=12.89;SB=-262.28 GT:AD:DP:GL:GQ 0/1:16,22:28:-61.99,-8.44,-37.57:99 -chr1 941158 rs9442388 C T 75.76 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=4.38;MQ=27.92;MQ0=1;OQ=496.98;QD=10.80;SB=-155.64 GT:AD:DP:GL:GQ 0/1:24,22:37:-64.14,-11.16,-65.52:99 -chr1 941185 rs9697362 C T 0.27 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=4;HaplotypeScore=0.96;MQ=26.62;MQ0=0;OQ=1253.78;QD=25.59;SB=-636.34 GT:AD:DP:GL:GQ 1/1:0,49:34:-128.98,-10.25,-0.02:99 -chr1 941193 rs9697717 G A 313.44 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=26.36;MQ0=0;OQ=1030.78;QD=25.77;SB=-468.62 GT:AD:DP:GL:GQ 1/1:0,40:27:-106.67,-8.14,-0.01:81.26 -chr1 941427 rs2465141 A G 200.39 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.01;MQ=50.56;MQ0=1;OQ=585.65;QD=10.65;SB=-303.21 GT:AD:DP:GL:GQ 0/1:29,26:48:-76.32,-14.47,-98.65:99 -chr1 941491 . A T 28.08 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=45.78;MQ0=3;QD=0.52;SB=41.14 GT:AD:DP:GL:GQ 0/1:46,8:45:-19.65,-13.56,-148.74:60.91 -chr1 941866 rs3128118 G A 182.23 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=3.48;MQ=58.42;MQ0=1;OQ=769.91;QD=13.27;SB=-278.19 GT:AD:DP:GL:GQ 0/1:30,27:54:-96.56,-16.28,-93.17:99 -chr1 942291 rs9442611 G A 158.27 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=58.27;MQ0=0;OQ=928.32;QD=19.34;SB=-479.01 GT:AD:DP:GL:GQ 0/1:19,29:48:-110.59,-14.48,-59.61:99 -chr1 943087 rs4970390 C T 107.20 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=50.43;MQ0=1;OQ=376.23;QD=6.60;SB=-175.84 GT:AD:DP:GL:GQ 0/1:38,19:49:-55.68,-14.78,-111.95:99 -chr1 943217 rs61766298 G A 33.08 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.91;MQ=54.66;MQ0=1;OQ=355.20;QD=4.80;SB=-58.95 GT:AD:DP:GL:GQ 0/1:57,16:65:-58.41,-19.60,-158.72:99 -chr1 943541 rs2952918 T C 3.09 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=5.78;MQ=53.39;MQ0=0;OQ=348.13;QD=8.70;SB=-186.61 GT:AD:DP:GL:GQ 0/1:24,16:38:-49.55,-11.46,-86.70:99 -chr1 943815 rs9442612 G A 205.15 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.44;MQ=57.73;MQ0=0;OQ=533.79;QD=13.02;SB=-257.75 GT:AD:DP:GL:GQ 0/1:22,19:39:-68.42,-11.76,-70.56:99 -chr1 944640 rs61766299 C A 104.63 PASS AC=1;AF=0.50;AN=2;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=57.66;MQ0=0;OQ=76.34;QD=7.63;SB=-34.38 GT:AD:DP:GL:GQ 0/1:6,4:9:-13.63,-2.71,-15.11:99 -chr1 946715 rs9777931 C T 99.84 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=60.00;MQ0=0;OQ=313.20;QD=12.05;SB=-129.12 GT:AD:DP:GL:GQ 0/1:14,11:22:-41.23,-6.63,-41.31:99 -chr1 949018 rs3845291 G A 42.15 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=1.63;MQ=59.54;MQ0=0;OQ=843.29;QD=16.87;SB=-349.52 GT:AD:DP:GL:GQ 0/1:23,27:47:-101.78,-14.17,-66.18:99 -chr1 949032 rs3845292 G C 180 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=59.52;MQ0=0;OQ=777.11;QD=16.19;SB=-360.45 GT:AD:DP:GL:GQ 0/1:22,26:45:-94.57,-13.58,-90.66:99 -chr1 949094 rs4039721 G A 273.59 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.09;MQ0=0;OQ=688.73;QD=16.80;SB=-366.42 GT:AD:DP:GL:GQ 0/1:19,22:36:-83.01,-10.86,-46.17:99 -chr1 950272 rs4970392 G C 3.67 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=3;HaplotypeScore=0.63;MQ=60.00;MQ0=0;OQ=405.25;QD=17.62;SB=-227.38 GT:AD:DP:GL:GQ 0/1:10,13:21:-50.14,-6.33,-36.47:99 -chr1 951690 rs3121556 G A 175.37 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=59.49;MQ0=0;OQ=541.95;QD=12.04;SB=-261.27 GT:AD:DP:GL:GQ 0/1:25,20:39:-69.24,-11.76,-65.32:99 -chr1 952469 rs4970393 G A 53.25 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=4.24;MQ=58.80;MQ0=0;OQ=631.93;QD=18.06;SB=-331.90 GT:AD:DP:GL:GQ 0/1:14,21:33:-76.42,-9.95,-42.13:99 -chr1 952754 rs4970394 C T 113.27 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=1.77;MQ=59.23;MQ0=0;OQ=488.22;QD=16.27;SB=-210.21 GT:AD:DP:GL:GQ 0/1:14,15:29:-60.84,-8.74,-49.96:99 -chr1 953112 rs2710870 C T 198.18 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.50;MQ=60.00;MQ0=0;OQ=692.82;QD=14.74;SB=-280.19 GT:AD:DP:GL:GQ 0/1:24,23:46:-86.43,-13.86,-83.87:99 -chr1 953580 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=11;Dels=0.00;HRun=16;HaplotypeScore=1.95;MQ=42.79;MQ0=0;OQ=89.92;QD=8.17;SB=-0.97 GT:AD:DP:GL:GQ 0/1:7,4:8:-14.69,-2.41,-16.44:99 -chr1 953584 rs2465127 T C 0.45 PASS AC=1;AF=0.50;AN=2;DB;DP=12;Dels=0.00;HRun=3;HaplotypeScore=3.77;MQ=52.61;MQ0=0;OQ=94.29;QD=7.86;SB=-65.34 GT:AD:DP:GL:GQ 0/1:4,8:9:-15.43,-2.71,-16.16:99 -chr1 954093 . G A 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=9.68;MQ=33.26;MQ0=5;OQ=209.72;QD=5.67;SB=-3.99 GT:AD:DP:GL:GQ 0/1:21,12:15:-28.78,-4.52,-24.72:99 -chr1 954161 rs61766303 C G 18.49 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=31.02;MQ0=1;OQ=184.53;QD=5.27;SB=-0.98 GT:AD:DP:GL:GQ 0/1:19,16:16:-26.57,-4.83,-37.31:99 -chr1 954252 rs4970397 C T 103.23 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=32.94;MQ0=3;OQ=204.52;QD=7.57;SB=-35.64 GT:AD:DP:GL:GQ 0/1:17,10:18:-29.16,-5.43,-34.74:99 -chr1 954703 rs4970343 T C 2.35 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=6.47;MQ=58.52;MQ0=0;OQ=457.55;QD=14.30;SB=-98.71 GT:AD:DP:GL:GQ 0/1:14,18:30:-58.08,-9.04,-50.50:99 -chr1 954711 rs4970344 A T 37.45 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.43;MQ0=0;OQ=626.99;QD=19.00;SB=-168.81 GT:AD:DP:GL:GQ 0/1:12,21:33:-75.92,-9.94,-45.13:99 -chr1 954872 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=20.43;MQ=48.78;MQ0=1;OQ=116.04;QD=3.14;SB=-52.28 GT:AD:DP:GL:GQ 0/1:25,12:25:-22.42,-7.54,-71.63:99 -chr1 955038 rs28373660 A G 250.76 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.49;MQ=55.30;MQ0=0;OQ=611.00;QD=13.28;SB=-229.46 GT:AD:DP:GL:GQ 0/1:20,26:39:-76.13,-11.75,-66.91:99 -chr1 955106 . A G 23.39 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=10.05;MQ=39.47;MQ0=7;QD=0.46;SB=-5.58 GT:AD:DP:GL:GQ 0/1:38,13:31:-14.97,-9.35,-98.23:56.21 -chr1 955141 rs28433148 T C 0.11 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.04;HRun=0;HaplotypeScore=16.86;MQ=40.85;MQ0=6;OQ=407.46;QD=7.41;SB=-215.36 GT:AD:DP:GL:GQ 0/1:25,28:41:-56.09,-12.06,-84.28:99 -chr1 955386 rs4970404 A G 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.02;HRun=0;HaplotypeScore=18.83;MQ=42.69;MQ0=11;OQ=218.68;QD=3.58;SB=-113.62 GT:AD:DP:GL:GQ 0/1:39,21:33:-35.11,-9.95,-82.73:99 -chr1 955467 rs4970345 C T 151.03 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=44.49;MQ0=2;OQ=398.93;QD=9.73;SB=-192.19 GT:AD:DP:GL:GQ 0/1:19,21:26:-51.01,-7.84,-42.93:99 -chr1 955802 rs4970398 A T 97.51 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=47.03;MQ0=2;OQ=550.07;QD=10.19;SB=-184.73 GT:AD:DP:GL:GQ 0/1:27,27:47:-72.45,-14.16,-100.00:99 -chr1 955812 rs4970399 A G 52.54 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.02;HRun=0;HaplotypeScore=3.69;MQ=45.58;MQ0=2;OQ=418.21;QD=7.47;SB=-156.96 GT:AD:DP:GL:GQ 0/1:27,28:43:-57.78,-12.67,-88.06:99 -chr1 955927 . T C 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.47;MQ=51.74;MQ0=5;OQ=79.40;QD=1.80;SB=-44.68 GT:AD:DP:GL:GQ 0/1:30,14:34:-21.47,-10.25,-106.58:99 -chr1 955942 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=21.62;MQ=50.59;MQ0=7;OQ=96.72;QD=1.97;SB=-71.62 GT:AD:DP:GL:GQ 0/1:29,17:31:-22.31,-9.35,-90.50:99 -chr1 956010 . A G 17.59 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=45.86;MQ0=9;QD=0.35;SB=1.17 GT:AD:DP:GL:GQ 0/1:36,13:34:-15.29,-10.25,-111.87:50.35 -chr1 957521 rs4970349 C T 109.68 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=2.54;MQ=59.65;MQ0=0;OQ=696.48;QD=12.90;SB=-243.23 GT:AD:DP:GL:GQ 0/1:30,24:51:-88.30,-15.37,-100.68:99 -chr1 960023 . C T 7.39 PASS AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=53.50;MQ0=0;OQ=70.28;QD=5.86;SB=-0.98 GT:AD:DP:GL:GQ 0/1:7,5:10:-13.33,-3.02,-17.80:99 -chr1 960078 rs9442364 G C 190.47 PASS AC=1;AF=0.50;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=59.38;QD=8.48;SB=-32.42 GT:AD:DP:GL:GQ 0/1:3,4:6:-11.04,-1.82,-11.54:92.22 -chr1 961087 rs2799055 A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=6;HaplotypeScore=0.98;MQ=59.32;MQ0=0;OQ=442.07;QD=13.00;SB=-186.63 GT:AD:DP:GL:GQ 0/1:16,18:32:-57.14,-9.65,-55.82:99 -chr1 961230 rs2710883 T C 342.64 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=60.00;MQ0=0;OQ=662.38;QD=14.09;SB=-345.94 GT:AD:DP:GL:GQ 0/1:23,24:47:-83.68,-14.16,-90.90:99 -chr1 961997 rs3121575 C T 135.78 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=582.22;QD=15.32;SB=-286.19 GT:AD:DP:GL:GQ 0/1:17,20:35:-72.05,-10.55,-56.30:99 -chr1 962043 rs4970350 G A 118.77 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=60.00;MQ0=0;OQ=762.03;QD=19.05;SB=-359.38 GT:AD:DP:GL:GQ 0/1:16,24:38:-90.95,-11.46,-47.96:99 -chr1 963199 rs2488993 A G 276.26 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.11;MQ0=0;OQ=691.22;QD=14.71;SB=-269.95 GT:AD:DP:GL:GQ 0/1:22,25:46:-86.26,-13.86,-87.86:99 -chr1 963240 rs2465129 G A 277.94 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.66;MQ=58.44;MQ0=0;OQ=598.48;QD=15.35;SB=-309.81 GT:AD:DP:GL:GQ 0/1:19,20:36:-73.98,-10.85,-56.47:99 -chr1 963321 rs2465130 C T 51.96 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=58.99;MQ0=0;OQ=517.87;QD=11.26;SB=-211.85 GT:AD:DP:GL:GQ 0/1:28,18:43:-68.02,-12.95,-92.79:99 -chr1 963531 rs2488994 A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=4;HaplotypeScore=7.50;MQ=58.37;MQ0=0;OQ=421.46;QD=9.80;SB=-94.66 GT:AD:DP:GL:GQ 0/1:26,17:40:-57.48,-12.05,-93.15:99 -chr1 964043 rs3121577 G T 194.69 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=3.07;MQ=59.29;MQ0=0;OQ=740.60;QD=11.39;SB=-370.98 GT:AD:DP:GL:GQ 0/1:36,29:64:-96.63,-19.29,-128.48:99 -chr1 964062 rs2465131 C T 262.80 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.28;MQ0=0;OQ=941.69;QD=14.71;SB=-361.86 GT:AD:DP:GL:GQ 0/1:34,30:62:-116.13,-18.68,-116.79:99 -chr1 964088 rs2488995 A G 204.47 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=60.00;MQ0=0;OQ=709.06;QD=12.66;SB=-311.29 GT:AD:DP:GL:GQ 0/1:29,27:55:-90.77,-16.58,-108.13:99 -chr1 964159 rs2488996 A G 168.04 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=2.14;MQ=59.09;MQ0=0;OQ=732.05;QD=15.91;SB=-365.63 GT:AD:DP:GL:GQ 0/1:18,28:43:-89.45,-12.96,-67.34:99 -chr1 964218 rs2488997 G A 8.67 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=4.51;MQ=58.80;MQ0=0;OQ=657.04;QD=18.77;SB=-348.46 GT:AD:DP:GL:GQ 0/1:15,20:35:-79.53,-10.55,-53.54:99 -chr1 964219 rs2465132 T C 152.74 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=58.80;MQ0=0;OQ=438.83;QD=12.54;SB=-221.28 GT:AD:DP:GL:GQ 0/1:15,20:33:-57.12,-9.95,-56.00:99 -chr1 964357 rs2465133 G T 31.32 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=5.89;MQ=58.66;MQ0=0;OQ=971.31;QD=14.72;SB=-505.87 GT:AD:DP:GL:GQ 0/1:30,36:62:-119.10,-18.68,-97.98:99 -chr1 964433 rs2465134 T G 140.23 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=2.32;MQ=58.54;MQ0=0;OQ=578.70;QD=12.58;SB=-251.93 GT:AD:DP:GL:GQ 0/1:22,23:38:-72.60,-11.45,-62.23:99 -chr1 964525 rs2465135 G T 124.08 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.24;MQ=58.59;MQ0=0;OQ=621.72;QD=18.84;SB=-320.48 GT:AD:DP:GL:GQ 0/1:13,20:32:-75.10,-9.64,-38.41:99 -chr1 964757 rs3121578 C T 344.84 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.81;MQ0=0;OQ=283.06;QD=10.11;SB=-156.67 GT:AD:DP:GL:GQ 0/1:18,10:26:-39.43,-7.84,-52.76:99 -chr1 964996 rs3121579 T A 109.73 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.40;MQ0=0;OQ=475.63;QD=15.34;SB=-146.82 GT:AD:DP:GL:GQ 0/1:15,16:30:-59.88,-9.04,-53.03:99 -chr1 965565 rs9331224 A G 58.24 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=2;HaplotypeScore=1.21;MQ=58.67;MQ0=0;OQ=414.04;QD=11.83;SB=-233.27 GT:AD:DP:GL:GQ 0/1:19,16:32:-54.33,-9.64,-64.60:99 -chr1 967066 rs3121552 G C 40.51 LowQual AC=1;AF=0.50;AN=2;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;QD=8.10;SB=-43.44 GT:AD:DP:GL:GQ 0/1:3,2:4:-8.54,-1.21,-8.39:71.79 -chr1 967193 rs2799066 T C 15.85 LowQual AC=1;AF=0.50;AN=2;DB;DP=8;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=57.05;MQ0=0;QD=1.98;SB=-24.63 GT:AD:DP:GL:GQ 0/1:6,2:8:-7.27,-2.41,-22.53:48.57 -chr1 967433 rs2710876 G A 2.15 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=7.34;MQ=57.29;MQ0=0;OQ=207.99;QD=8.00;SB=-101.60 GT:AD:DP:GL:GQ 0/1:14,12:21:-30.42,-6.34,-38.59:99 -chr1 967643 rs2710875 C T 1.07 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=4.71;MQ=57.25;MQ0=0;OQ=665.34;QD=21.46;SB=-289.34 GT:AD:DP:GL:GQ 0/1:11,20:28:-78.26,-8.44,-23.82:99 -chr1 970323 rs3128097 G A 1.18 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=9.72;MQ=59.47;MQ0=0;OQ=926.21;QD=16.84;SB=-308.84 GT:AD:DP:GL:GQ 0/1:24,31:51:-111.27,-15.36,-80.98:99 -chr1 970950 rs3128098 A G 264.56 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=57.28;MQ0=0;OQ=593.17;QD=14.83;SB=-270.38 GT:AD:DP:GL:GQ 0/1:15,24:36:-73.46,-10.85,-50.98:99 -chr1 971794 rs2465128 A G 68.21 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=60.00;MQ0=0;OQ=206.80;QD=7.66;SB=-83.65 GT:AD:DP:GL:GQ 0/1:13,14:23:-30.90,-6.93,-51.94:99 -chr1 972307 rs3128099 A G 0.33 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=3;HaplotypeScore=7.82;MQ=57.77;MQ0=0;OQ=622.11;QD=14.81;SB=-282.64 GT:AD:DP:GL:GQ 0/1:15,25:37:-76.65,-11.15,-58.34:99 -chr1 972325 rs3128100 T C 8.29 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=4.33;MQ=57.56;MQ0=0;OQ=1298.64;QD=27.06;SB=-459.21 GT:AD:DP:GL:GQ 1/1:0,48:42:-133.49,-12.67,-0.04:99 -chr1 972376 rs3128101 T C 10.73 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=5.66;MQ=56.76;MQ0=0;OQ=571.56;QD=13.94;SB=-141.55 GT:AD:DP:GL:GQ 0/1:15,25:36:-73.37,-12.93,-53.37:99 -chr1 972804 rs3128102 T C 4.22 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=3;HaplotypeScore=3.75;MQ=59.50;MQ0=0;OQ=547.08;QD=11.89;SB=-200.60 GT:AD:DP:GL:GQ 0/1:23,23:37:-69.14,-11.15,-71.89:99 -chr1 972857 rs10267 T C 1.79 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=2.51;MQ=58.63;MQ0=0;OQ=633.32;QD=18.63;SB=-175.96 GT:AD:DP:GL:GQ 0/1:12,21:33:-76.56,-9.94,-48.12:99 -chr1 974010 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=20;HaplotypeScore=11.22;MQ=50.83;MQ0=0;OQ=57.83;QD=3.04;SB=2.03 GT:AD:DP:GL:GQ 0/1:15,4:17:-14.19,-5.12,-41.74:90.67 -chr1 974165 rs9442391 T C 32.20 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=1.12;MQ=57.07;MQ0=0;OQ=302.47;QD=11.63;SB=-10.00 GT:AD:DP:GL:GQ 0/1:13,13:22:-40.16,-6.63,-43.34:99 -chr1 975129 rs2275813 C T 11.79 PASS AC=1;AF=0.50;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.16;MQ0=0;OQ=102.58;QD=20.52;SB=-45.66 GT:AD:DP:GL:GQ 0/1:1,4:5:-15.04,-1.51,-2.70:11.90 -chr1 975309 rs2275812 G T 1.40 PASS AC=1;AF=0.50;AN=2;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=7.77;MQ=59.16;MQ0=0;OQ=108.56;QD=9.87;SB=-36.92 GT:AD:DP:GL:GQ 0/1:5,6:10:-17.15,-3.01,-16.77:99 -chr1 975312 rs56255212 G A 0.19 PASS AC=1;AF=0.50;AN=2;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=7.96;MQ=57.00;MQ0=0;OQ=248.84;QD=22.62;SB=-118.97 GT:AD:DP:GL:GQ 0/1:2,9:10:-31.18,-3.01,-6.57:35.54 -chr1 976306 rs2710887 C T 180.42 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=498.86;QD=13.13;SB=-206.20 GT:AD:DP:GL:GQ 0/1:21,17:37:-64.33,-11.16,-66.50:99 -chr1 977063 rs9803031 C T 254.02 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.50;MQ0=0;OQ=585.89;QD=18.90;SB=-309.86 GT:AD:DP:GL:GQ 0/1:13,18:30:-70.92,-9.05,-35.55:99 -chr1 977533 rs13303287 T G 495.76 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.28;MQ0=0;OQ=796.56;QD=13.73;SB=-424.70 GT:AD:DP:GL:GQ 0/1:25,33:58:-100.42,-17.48,-92.24:99 -chr1 978366 rs2799071 A T 261.84 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=60.00;MQ0=0;OQ=849.34;QD=16.33;SB=-440.60 GT:AD:DP:GL:GQ 0/1:23,29:48:-102.68,-14.47,-71.41:99 -chr1 978795 rs2710871 G C 22.28 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=3;HaplotypeScore=0.83;MQ=58.33;MQ0=0;OQ=743.65;QD=17.71;SB=-370.12 GT:AD:DP:GL:GQ 0/1:18,24:36:-88.51,-10.86,-57.89:99 -chr1 980143 rs4275402 C T 40.06 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=58.13;MQ0=0;OQ=896.64;QD=35.87;SB=-438.31 GT:AD:DP:GL:GQ 1/1:0,25:24:-93.26,-7.23,-0.01:72.23 -chr1 980380 rs2710872 C T 78.16 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=549.92;QD=18.33;SB=-189.29 GT:AD:DP:GL:GQ 0/1:12,18:27:-66.42,-8.14,-30.90:99 -chr1 980636 rs2799072 C T 101.12 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=60.00;MQ0=0;OQ=1104.80;QD=20.09;SB=-396.92 GT:AD:DP:GL:GQ 0/1:22,33:54:-130.03,-16.27,-75.12:99 -chr1 980669 rs2799073 G A 136.86 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.91;MQ=60.00;MQ0=0;OQ=1001.06;QD=20.02;SB=-407.16 GT:AD:DP:GL:GQ 0/1:17,32:47:-117.55,-14.17,-57.43:99 -chr1 980847 rs8014 G A 99.13 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=656.29;QD=17.27;SB=-261.26 GT:AD:DP:GL:GQ 0/1:18,20:38:-80.37,-11.45,-56.60:99 -chr1 981587 rs3121562 C T 350.10 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.79;MQ0=0;OQ=354.87;QD=13.14;SB=-164.15 GT:AD:DP:GL:GQ 0/1:12,15:25:-46.32,-7.55,-37.60:99 -chr1 981840 rs4970400 G A 115.33 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=38.45;MQ=54.81;MQ0=0;QD=3.04;SB=-51.02 GT:AD:DP:GL:GQ 0/1:30,8:33:-24.78,-9.96,-81.20:99 -chr1 981844 rs13303259 A G 138.38 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=33.28;MQ=55.32;MQ0=0;QD=3.29;SB=-90.63 GT:AD:DP:GL:GQ 0/1:32,10:37:-28.28,-11.16,-110.43:99 -chr1 981845 rs2710885 T C 325.46 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=29.31;MQ=55.32;MQ0=0;QD=7.75;SB=-95.70 GT:AD:DP:GL:GQ 0/1:24,18:34:-46.08,-10.25,-78.60:99 -chr1 981905 rs3121564 C T 503.25 Indel AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=2.81;MQ=56.07;MQ0=0;QD=13.24;SB=-230.23 GT:AD:DP:GL:GQ 0/1:19,19:34:-63.86,-10.25,-57.54:99 -chr1 981947 rs2710886 T C 139.57 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.81;MQ=57.30;MQ0=0;OQ=454.51;QD=9.88;SB=-191.43 GT:AD:DP:GL:GQ 0/1:25,21:45:-62.31,-13.57,-94.53:99 -chr1 981957 rs2799074 T C 39.32 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=57.39;MQ0=0;OQ=362.93;QD=6.48;SB=-127.51 GT:AD:DP:GL:GQ 0/1:32,23:44:-52.84,-13.27,-101.58:99 -chr1 982190 rs2245754 C T 115.77 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=2.93;MQ=56.87;MQ0=0;OQ=667.97;QD=12.60;SB=-322.42 GT:AD:DP:GL:GQ 0/1:29,24:49:-84.84,-14.76,-98.05:99 -chr1 982682 rs9331226 G A 139.28 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=47.23;MQ0=0;OQ=1563.99;QD=20.85;SB=-791.90 GT:AD:DP:GL:GQ 0/1:29,46:74:-181.97,-22.29,-107.08:99 -chr1 983223 rs13303240 C A 201.17 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=58.32;MQ0=0;OQ=838.66;QD=15.82;SB=-290.67 GT:AD:DP:GL:GQ 0/1:25,28:52:-102.82,-15.67,-74.49:99 -chr1 984254 rs2488991 G T 204.10 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.29;MQ=58.59;MQ0=0;OQ=458.34;QD=13.89;SB=-201.49 GT:AD:DP:GL:GQ 0/1:13,19:30:-58.16,-9.04,-45.43:99 -chr1 985344 rs9442393 T G 429.35 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=599.53;QD=14.99;SB=-298.50 GT:AD:DP:GL:GQ 0/1:18,22:39:-74.98,-11.75,-60.16:99 -chr1 987271 rs28397086 T C 29.44 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=55.90;MQ0=0;OQ=513.69;QD=32.11;SB=-117.05 GT:AD:DP:GL:GQ 1/1:0,16:15:-54.96,-4.52,-0.01:45.13 -chr1 988258 rs7526076 A G 181.81 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.08;MQ=59.56;MQ0=0;OQ=852.42;QD=16.08;SB=-332.31 GT:AD:DP:GL:GQ 0/1:24,29:52:-104.19,-15.67,-91.85:99 -chr1 988445 rs3813194 G C 229.28 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=58.48;MQ0=0;OQ=676.17;QD=16.90;SB=-324.02 GT:AD:DP:GL:GQ 0/1:19,21:38:-82.36,-11.46,-78.97:99 -chr1 990019 rs11584349 C T 5.80 PASS AC=1;AF=0.50;AN=2;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=221.74;QD=18.48;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,7:12:-29.08,-3.62,-14.98:99 -chr1 991040 rs4970401 G C 199.01 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=1348.36;QD=21.75;SB=-452.37 GT:AD:DP:GL:GQ 0/1:27,35:61:-156.51,-18.39,-101.07:99 -chr1 992297 rs11260596 C T 126.12 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=58.11;MQ0=0;OQ=235.14;QD=11.76;SB=-75.09 GT:AD:DP:GL:GQ 0/1:10,10:18:-32.23,-5.43,-30.14:99 -chr1 992795 rs4246502 C G 1.88 PASS AC=1;AF=0.50;AN=2;DB;DP=13;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.20;MQ0=0;OQ=331.32;QD=25.49;SB=-10.00 GT:AD:DP:GL:GQ 0/1:3,10:12:-40.03,-3.62,-11.85:82.27 -chr1 992916 rs4074992 C T 64.57 PASS AC=1;AF=0.50;AN=2;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=58.96;MQ0=0;OQ=236.09;QD=13.12;SB=-45.65 GT:AD:DP:GL:GQ 0/1:9,9:18:-32.32,-5.43,-28.25:99 -chr1 993492 rs4075116 C T 510.01 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=697.41;QD=15.16;SB=-277.76 GT:AD:DP:GL:GQ 0/1:23,23:43:-85.98,-12.96,-73.34:99 -chr1 994820 rs4073176 G A 10.79 PASS AC=1;AF=0.50;AN=2;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=141.42;QD=15.71;SB=-0.98 GT:AD:DP:GL:GQ 0/1:4,5:9:-20.14,-2.71,-13.80:99 -chr1 994843 rs4073177 G A 1.13 PASS AC=1;AF=0.50;AN=2;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=225.74;QD=20.52;SB=-3.99 GT:AD:DP:GL:GQ 0/1:4,7:11:-29.17,-3.31,-13.13:98.16 -chr1 995932 rs55918415 G A 129.98 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=57.98;MQ0=1;OQ=500.10;QD=13.89;SB=-124.09 GT:AD:DP:GL:GQ 0/1:20,16:33:-63.24,-9.94,-54.88:99 -chr1 996086 rs9442394 G A 160.48 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=2.17;MQ=59.51;MQ0=0;OQ=685.95;QD=14.59;SB=-304.81 GT:AD:DP:GL:GQ 0/1:25,22:45:-85.44,-13.56,-78.07:99 -chr1 996853 rs4326571 G A 22.99 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=3.32;MQ=58.90;MQ0=0;OQ=529.40;QD=13.93;SB=-35.65 GT:AD:DP:GL:GQ 0/1:21,17:38:-67.68,-11.45,-66.25:99 -chr1 999097 rs9442366 T C 69.15 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=59.30;MQ0=0;OQ=217.52;QD=6.59;SB=-81.95 GT:AD:DP:GL:GQ 0/1:21,12:31:-34.38,-9.34,-81.07:99 -chr1 999304 . G A 28.33 PASS AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=57.94;MQ0=0;OQ=327.19;QD=9.62;SB=-182.19 GT:AD:DP:GL:GQ 0/1:21,13:31:-45.35,-9.34,-65.26:99 -chr1 999341 rs9442367 G C 25.99 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=2;HaplotypeScore=0.81;MQ=58.59;MQ0=0;OQ=590.30;QD=17.89;SB=-256.14 GT:AD:DP:GL:GQ 0/1:14,19:30:-71.37,-9.06,-48.75:99 -chr1 1000580 rs9442368 C T 47.69 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=4.96;MQ=54.71;MQ0=0;OQ=650.78;QD=15.49;SB=-262.79 GT:AD:DP:GL:GQ 0/1:21,21:39:-80.11,-11.75,-60.91:99 -chr1 1000958 rs11810785 A G 695.93 Indel AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=6;HaplotypeScore=2.96;MQ=54.24;MQ0=1;QD=26.77;SB=-339.63 GT:AD:DP:GL:GQ 1/1:0,26:21:-73.19,-6.33,-0.01:63.17 -chr1 1001394 . T C 34.95 LowQual AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=41.30;MQ0=1;QD=3.88;SB=-6.99 GT:AD:DP:GL:GQ 0/1:6,3:8:-9.19,-2.41,-20.53:67.78 -chr1 1001500 . A T 20.13 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=16.78;MQ0=8;QD=0.81;SB=-10.00 GT:AD:DP:GL:GQ 0/1:19,5:9:-8.01,-2.72,-22.07:52.92 -chr1 1002064 . G C 10.08 LowQual AC=1;AF=0.50;AN=2;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=22.77;MQ0=0;QD=5.04;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,1:1:-4.25,-0.30,-0.00:1.76 -chr1 1002464 . A T 1.23 PASS AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=18.46;MQ0=3;OQ=57.47;QD=3.59;SB=-37.37 GT:AD:DP:GL:GQ 0/1:8,7:4:-10.24,-1.21,-3.80:25.95 -chr1 1002488 . A T 34.11 LowQual AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=7.23;MQ=19.96;MQ0=3;QD=2.27;SB=-4.00 GT:AD:DP:GL:GQ 0/1:9,6:4:-7.90,-1.21,-5.60:43.89 -chr1 1002494 . A T 35.11 LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=4.75;MQ=19.72;MQ0=3;QD=2.51;SB=-7.00 GT:AD:DP:GL:GQ 0/1:7,7:3:-7.70,-0.90,-3.30:23.95 -chr1 1002516 . G A 46.02 LowQual AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=4.77;MQ=18.44;MQ0=1;QD=4.60;SB=-10.00 GT:AD:DP:GL:GQ 1/1:5,5:2:-8.01,-0.60,-0.00:6.02 -chr1 1002856 . T G 12.29 PASS AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=29.33;MQ0=1;OQ=106.33;QD=5.32;SB=-21.95 GT:AD:DP:GL:GQ 0/1:10,10:13:-17.84,-3.92,-27.80:99 -chr1 1003100 . C T 26.46 LowQual AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=39.70;MQ0=0;QD=2.65;SB=-3.99 GT:AD:DP:GL:GQ 0/1:8,2:6:-7.74,-1.81,-13.13:59.28 -chr1 1003243 . G C 4.11 PASS AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=4.94;MQ=27.95;MQ0=9;OQ=330.47;QD=13.77;SB=-94.94 GT:AD:DP:GL:GQ 1/1:14,10:9:-36.64,-2.72,-0.01:27.09 -chr1 1003514 . C A 42.25 LowQual AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=28.30;MQ0=1;QD=7.04;SB=-46.39 GT:AD:DP:GL:GQ 1/1:0,6:2:-7.63,-0.60,-0.00:6.02 -chr1 1003557 . T A 0.08 PASS AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=5.02;MQ=17.13;MQ0=14;OQ=71.49;QD=2.98;SB=-43.38 GT:AD:DP:GL:GQ 0/1:21,3:4:-11.64,-1.20,-3.64:24.35 -chr1 1003864 . G C 10.99 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=0;HaplotypeScore=9.87;MQ=5.60;MQ0=15;QD=0.58;SB=-10.00 GT:AD:DP:GL:GQ 0/1:17,2:1:-4.35,-0.30,-0.00:1.76 -chr1 1004168 . A T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=12.18;MQ=19.95;MQ0=11;OQ=53.86;QD=2.56;SB=-37.95 GT:AD:DP:GL:GQ 0/1:14,6:6:-10.48,-1.81,-11.22:86.70 -chr1 1004254 . G C 33.05 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=1;HaplotypeScore=6.90;MQ=13.09;MQ0=11;QD=1.32;SB=-10.00 GT:AD:DP:GL:GQ 0/1:13,12:4:-7.80,-1.21,-8.59:65.89 -chr1 1004313 . G C 21.04 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=11.38;MQ0=14;QD=0.84;SB=-3.98 GT:AD:DP:GL:GQ 0/1:23,2:6:-7.19,-1.81,-17.58:53.84 -chr1 1004699 rs12401605 A G 193.45 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=54.82;MQ0=0;OQ=256.92;QD=8.56;SB=-154.32 GT:AD:DP:GL:GQ 0/1:17,12:28:-37.42,-8.44,-63.53:99 -chr1 1004727 rs12411041 T A 29.53 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=54.35;MQ0=0;OQ=225.92;QD=6.11;SB=-72.06 GT:AD:DP:GL:GQ 0/1:25,11:32:-35.52,-9.65,-76.83:99 -chr1 1004989 rs36027499 A G 65.38 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=54.55;MQ0=0;OQ=184.41;QD=7.38;SB=-109.60 GT:AD:DP:GL:GQ 0/1:16,9:24:-28.96,-7.24,-58.60:99 -chr1 1005120 rs9442369 A G 5.28 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.83;MQ=59.36;MQ0=0;OQ=146.76;QD=4.08;SB=-64.75 GT:AD:DP:GL:GQ 0/1:26,10:34:-28.21,-10.25,-99.59:99 -chr1 1005414 rs9442370 C T 185.20 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.23;MQ0=0;OQ=413.23;QD=13.77;SB=-165.25 GT:AD:DP:GL:GQ 0/1:14,16:26:-52.45,-7.84,-38.57:99 -chr1 1005680 rs12746483 G A 50.56 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=2.06;MQ=55.16;MQ0=0;OQ=462.98;QD=16.54;SB=-241.55 GT:AD:DP:GL:GQ 0/1:13,15:28:-58.02,-8.44,-44.58:99 -chr1 1007033 rs3766193 C G 206.38 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.18;MQ=57.65;MQ0=0;OQ=606.89;QD=15.97;SB=-241.40 GT:AD:DP:GL:GQ 0/1:19,19:36:-74.82,-10.85,-77.35:99 -chr1 1007060 rs3766192 C T 263.39 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.29;MQ=59.03;MQ0=0;OQ=740.51;QD=17.22;SB=-335.87 GT:AD:DP:GL:GQ 0/1:19,24:42:-90.01,-12.67,-54.97:99 -chr1 1007204 rs1133647 G T 220.81 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=58.63;MQ0=0;OQ=352.30;QD=10.36;SB=-144.83 GT:AD:DP:GL:GQ 0/1:20,14:34:-48.76,-10.25,-68.42:99 -chr1 1008007 rs9442395 T C 79.76 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=3.17;MQ=58.20;MQ0=0;OQ=515.12;QD=11.71;SB=-260.59 GT:AD:DP:GL:GQ 0/1:23,21:43:-67.76,-12.96,-87.04:99 -chr1 1008425 rs9442371 C T 263.64 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=58.95;MQ0=0;OQ=629.69;QD=14.31;SB=-217.52 GT:AD:DP:GL:GQ 0/1:24,20:39:-78.01,-11.76,-59.01:99 -chr1 1008567 rs9442372 A G 252.74 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.72;MQ=58.97;MQ0=0;OQ=538.45;QD=11.97;SB=-254.34 GT:AD:DP:GL:GQ 0/1:20,24:42:-69.79,-12.66,-79.04:99 -chr1 1009038 rs2298215 C G 217.10 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=60.00;MQ0=0;OQ=687.91;QD=14.95;SB=-237.07 GT:AD:DP:GL:GQ 0/1:26,20:46:-85.94,-13.87,-107.64:99 -chr1 1009043 rs9442396 T C 432.81 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=537.22;QD=11.94;SB=-291.59 GT:AD:DP:GL:GQ 0/1:24,21:42:-69.65,-12.65,-93.39:99 -chr1 1010269 rs9442397 T C 3.22 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=2.96;MQ=59.38;MQ0=0;OQ=202.19;QD=5.46;SB=-53.82 GT:AD:DP:GL:GQ 0/1:25,12:35:-34.05,-10.54,-100.39:99 -chr1 1011278 rs3737728 A G 36.30 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=3.58;MQ=58.01;MQ0=0;OQ=401.40;QD=7.72;SB=-209.34 GT:AD:DP:GL:GQ 0/1:32,20:49:-58.20,-14.77,-121.11:99 -chr1 1011558 rs9442398 A G 416.42 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=58.92;MQ0=0;OQ=544.78;QD=12.67;SB=-280.28 GT:AD:DP:GL:GQ 0/1:17,25:38:-69.23,-11.47,-56.30:99 -chr1 1011900 rs6701114 C T 240.77 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=59.30;MQ0=0;OQ=587.87;QD=17.81;SB=-314.84 GT:AD:DP:GL:GQ 0/1:13,20:30:-71.11,-9.04,-40.79:99 -chr1 1013307 rs9442399 C G 25.25 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=338.37;QD=37.60;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,9:9:-37.42,-2.71,-0.00:27.09 -chr1 1015133 . C T 6.55 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=4.91;MQ=59.48;MQ0=0;OQ=504.60;QD=11.47;SB=-145.62 GT:AD:DP:GL:GQ 0/1:26,18:38:-65.20,-11.46,-67.24:99 -chr1 1015164 rs9442400 T C 212.54 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=59.61;MQ0=0;OQ=1416.80;QD=29.52;SB=-594.18 GT:AD:DP:GL:GQ 1/1:0,48:47:-145.32,-14.18,-0.06:99 -chr1 1016570 rs4074137 C A 81.77 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=60.00;MQ0=0;OQ=196.23;QD=6.33;SB=-112.43 GT:AD:DP:GL:GQ 0/1:22,9:30:-31.95,-9.04,-69.97:99 -chr1 1016664 rs4562563 T A 69.49 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=58.99;MQ0=0;OQ=428.33;QD=18.62;SB=-222.84 GT:AD:DP:GL:GQ 0/1:8,15:23:-53.05,-6.93,-28.44:99 -chr1 1021403 rs9651273 A G 292.85 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=648.57;QD=9.40;SB=-308.20 GT:AD:DP:GL:GQ 0/1:44,25:69:-88.92,-20.78,-180.93:99 -chr1 1022047 rs9651272 A G 123.66 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.74;MQ=59.58;MQ0=0;OQ=389.06;QD=8.84;SB=-195.60 GT:AD:DP:GL:GQ 0/1:25,19:42:-54.85,-12.66,-100.05:99 -chr1 1023862 rs4970353 C T 10.88 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=5;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=971.03;QD=16.18;SB=-472.48 GT:AD:DP:GL:GQ 0/1:30,30:59:-118.16,-17.77,-101.63:99 -chr1 1025668 rs12759295 G A 84.62 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.90;MQ=59.60;MQ0=0;OQ=2089.51;QD=36.03;SB=-522.67 GT:AD:DP:GL:GQ 1/1:0,58:54:-212.56,-16.27,-0.02:99 -chr1 1026680 rs61766341 T C 205.76 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=959.29;QD=13.51;SB=-415.84 GT:AD:DP:GL:GQ 0/1:32,39:68:-119.71,-20.50,-125.74:99 -chr1 1026910 rs12134754 C T 210.31 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=59.33;MQ0=0;OQ=1080.76;QD=17.43;SB=-366.87 GT:AD:DP:GL:GQ 0/1:30,32:60:-129.44,-18.08,-89.78:99 -chr1 1027893 . T A 15.04 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=20;HaplotypeScore=5.87;MQ=44.25;MQ0=4;QD=0.40;SB=32.13 GT:AD:DP:GL:GQ 0/1:33,5:23:-11.70,-6.93,-76.52:47.73 -chr1 1037844 rs11584392 G A 163.44 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.18;MQ=59.82;MQ0=0;OQ=608.74;QD=14.16;SB=-241.74 GT:AD:DP:GL:GQ 0/1:22,21:40:-76.22,-12.06,-65.82:99 -chr1 1043248 rs4970408 C T 441.42 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.36;MQ0=0;OQ=945.52;QD=17.51;SB=-425.94 GT:AD:DP:GL:GQ 0/1:25,29:54:-114.11,-16.27,-86.23:99 -chr1 1050037 rs7548798 C T 114.73 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=3.36;MQ=58.61;MQ0=0;OQ=733.89;QD=15.61;SB=-330.30 GT:AD:DP:GL:GQ 0/1:24,23:47:-90.84,-14.17,-83.86:99 -chr1 1050038 rs7556082 T C 10.07 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=4;HaplotypeScore=2.36;MQ=58.61;MQ0=0;OQ=528.95;QD=11.25;SB=-283.60 GT:AD:DP:GL:GQ 0/1:24,23:46:-70.05,-13.87,-95.38:99 -chr1 1050218 rs12567855 G C 18.84 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=1.10;MQ=59.48;MQ0=0;OQ=549.12;QD=15.25;SB=-150.55 GT:AD:DP:GL:GQ 0/1:19,17:33:-68.15,-9.95,-68.62:99 -chr1 1050923 . C G 38.31 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=2;HaplotypeScore=7.12;MQ=59.57;MQ0=0;QD=0.71;SB=62.24 GT:AD:DP:GL:GQ 0/1:40,14:36:-17.98,-10.86,-134.66:71.15 -chr1 1051029 rs11807848 T C 153.72 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.10;MQ=60.00;MQ0=0;OQ=328.64;QD=9.39;SB=-171.94 GT:AD:DP:GL:GQ 0/1:21,14:34:-46.39,-10.24,-82.90:99 -chr1 1051657 rs34530354 A G 139.07 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.25;MQ0=0;OQ=341.50;QD=11.02;SB=-128.73 GT:AD:DP:GL:GQ 0/1:17,14:30:-46.47,-9.04,-63.98:99 -chr1 1051711 rs35207507 A G 157.75 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=57.36;MQ0=0;OQ=232.59;QD=9.30;SB=-75.78 GT:AD:DP:GL:GQ 0/1:12,13:22:-33.17,-6.63,-47.34:99 -chr1 1051888 rs9329411 A G 8.12 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=58.95;MQ0=0;OQ=307.14;QD=13.96;SB=-152.31 GT:AD:DP:GL:GQ 0/1:10,12:20:-40.02,-6.03,-35.33:99 -chr1 1052501 rs9442373 C A 218.78 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=59.03;MQ0=0;OQ=1229.67;QD=18.35;SB=-293.35 GT:AD:DP:GL:GQ 0/1:29,38:65:-145.84,-19.58,-78.11:99 -chr1 1052907 rs7545801 A G 1.69 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=2.49;MQ=60.00;MQ0=0;OQ=935.67;QD=29.24;SB=-247.57 GT:AD:DP:GL:GQ 1/1:0,32:30:-97.17,-9.04,-0.02:90.21 -chr1 1053104 rs4970413 G T 111.15 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.50;MQ=59.42;MQ0=0;OQ=637.82;QD=15.95;SB=-209.62 GT:AD:DP:GL:GQ 0/1:16,24:36:-77.92,-10.85,-38.08:99 -chr1 1053355 rs55945496 G A 154.74 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=58.97;MQ0=0;OQ=692.26;QD=15.38;SB=-240.56 GT:AD:DP:GL:GQ 0/1:24,21:40:-84.57,-12.06,-60.15:99 -chr1 1054398 rs6682475 G C 62.97 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=3.35;MQ=57.20;MQ0=0;OQ=522.88;QD=16.34;SB=-284.57 GT:AD:DP:GL:GQ 0/1:16,16:32:-65.22,-9.65,-67.94:99 -chr1 1054533 rs7547403 C G 0.36 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=4;HaplotypeScore=0.79;MQ=59.42;MQ0=0;OQ=1637.77;QD=40.94;SB=-672.45 GT:AD:DP:GL:GQ 1/1:0,40:39:-167.38,-11.75,-0.02:99 -chr1 1054665 rs2298216 T C 152.44 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.44;MQ=59.60;MQ0=0;OQ=1938.74;QD=34.01;SB=-772.11 GT:AD:DP:GL:GQ 1/1:0,57:57:-197.48,-17.17,-0.02:99 -chr1 1055159 rs4072537 T C 138.47 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=51.50;MQ0=0;OQ=1817.15;QD=30.80;SB=-665.83 GT:AD:DP:GL:GQ 1/1:0,59:56:-185.34,-16.89,-0.04:99 -chr1 1055460 rs9442357 C A 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.04;HRun=20;HaplotypeScore=17.31;MQ=48.11;MQ0=2;OQ=1123.16;QD=23.90;SB=-311.46 GT:AD:DP:GL:GQ 1/1:9,36:37:-122.62,-11.15,-6.72:44.32 -chr1 1056122 rs4072496 G C 273.90 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.11;MQ0=0;OQ=828.08;QD=31.85;SB=-146.57 GT:AD:DP:GL:GQ 1/1:0,26:22:-86.41,-6.64,-0.02:66.21 -chr1 1056145 rs10907181 A G 65.29 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=60.00;MQ0=0;OQ=849.61;QD=28.32;SB=-350.43 GT:AD:DP:GL:GQ 1/1:0,30:29:-88.58,-8.75,-0.04:87.15 -chr1 1056266 rs10907182 T C 152.84 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.47;MQ0=0;OQ=1343.61;QD=29.86;SB=-493.15 GT:AD:DP:GL:GQ 1/1:0,45:43:-137.99,-12.97,-0.04:99 -chr1 1056679 . A G 17.68 PASS AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=33.92;MQ0=0;OQ=622.64;QD=23.06;SB=-77.91 GT:AD:DP:GL:GQ 1/1:0,27:19:-65.86,-5.72,-0.01:57.16 -chr1 1056682 rs7513297 A G 4.15 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=33.92;MQ0=0;OQ=613.60;QD=22.73;SB=-73.89 GT:AD:DP:GL:GQ 1/1:0,27:19:-64.96,-5.73,-0.01:57.15 -chr1 1056691 rs7553878 C G 182.98 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=38.04;MQ0=0;OQ=986.57;QD=30.83;SB=-182.68 GT:AD:DP:GL:GQ 1/1:0,32:25:-102.26,-7.54,-0.01:75.24 -chr1 1056809 rs7513404 A G 1483.16 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=11.12;MQ=36.69;MQ0=3;QD=26.02;SB=-571.97 GT:AD:DP:GL:GQ 1/1:2,55:47:-151.94,-14.18,-0.04:99 -chr1 1056815 rs7513405 A G 1422.20 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=12.03;MQ=35.94;MQ0=3;QD=26.83;SB=-591.02 GT:AD:DP:GL:GQ 1/1:4,49:44:-145.84,-13.27,-0.03:99 -chr1 1056816 rs7516160 T C 1466.09 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=12.03;MQ=36.53;MQ0=3;QD=27.15;SB=-727.28 GT:AD:DP:GL:GQ 1/1:3,50:47:-150.24,-14.18,-0.04:99 -chr1 1057725 rs9442374 T G 13.34 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=58.50;MQ0=0;OQ=951.55;QD=30.70;SB=-471.37 GT:AD:DP:GL:GQ 1/1:0,31:29:-98.75,-8.74,-0.01:87.23 -chr1 1057728 rs9442358 A C 4.18 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=3;HaplotypeScore=0.48;MQ=58.50;MQ0=0;OQ=931.22;QD=30.04;SB=-418.04 GT:AD:DP:GL:GQ 1/1:1,30:28:-96.72,-8.44,-0.02:84.22 -chr1 1059288 rs9442375 C A 11.97 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=1.68;MQ=37.62;MQ0=0;OQ=1307.51;QD=33.53;SB=-359.86 GT:AD:DP:GL:GQ 1/1:0,39:37:-134.35,-11.15,-0.01:99 -chr1 1059306 rs9442376 G A 317.82 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=30.41;MQ0=0;OQ=1189.43;QD=32.15;SB=-404.66 GT:AD:DP:GL:GQ 1/1:0,37:31:-122.54,-9.34,-0.01:93.30 -chr1 1059314 rs9442377 G A 1.90 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=4.82;MQ=29.14;MQ0=0;OQ=1298.78;QD=30.92;SB=-496.01 GT:AD:DP:GL:GQ 1/1:0,42:35:-133.48,-10.55,-0.02:99 -chr1 1059991 rs9442378 T G 44.61 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=59.34;MQ0=0;OQ=1111.12;QD=31.75;SB=-500.92 GT:AD:DP:GL:GQ 1/1:0,35:33:-114.71,-9.94,-0.02:99 -chr1 1060304 rs9442379 C T 128.73 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=60.00;MQ0=0;OQ=1793.65;QD=37.37;SB=-715.98 GT:AD:DP:GL:GQ 1/1:0,48:46:-182.96,-13.86,-0.01:99 -chr1 1060981 rs10907183 G C 289 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.17;MQ=58.88;MQ0=0;OQ=1986.90;QD=34.26;SB=-998.16 GT:AD:DP:GL:GQ 1/1:0,58:51:-202.32,-15.40,-0.05:99 -chr1 1061055 rs6604971 T C 165.65 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=59.35;MQ0=0;OQ=1959.28;QD=30.61;SB=-872.00 GT:AD:DP:GL:GQ 1/1:0,64:62:-199.57,-18.70,-0.06:99 -chr1 1062361 rs9442360 G C 41.74 LowQual AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=51.77;MQ0=0;QD=13.91;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,3:2:-7.58,-0.60,-0.00:6.02 -chr1 1063812 . C A 39.60 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=20;HaplotypeScore=10.99;MQ=49.89;MQ0=1;QD=0.94;SB=53.19 GT:AD:DP:GL:GQ 0/1:34,7:30:-16.28,-9.04,-89.71:72.44 -chr1 1064433 . T C 21.13 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=43.11;MQ0=1;QD=1.11;SB=5.04 GT:AD:DP:GL:GQ 0/1:14,5:14:-9.62,-4.23,-37.37:53.93 -chr1 1064508 . A G 48.32 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=5;HaplotypeScore=5.11;MQ=25.52;MQ0=20;QD=0.93;SB=-10.00 GT:AD:DP:GL:GQ 0/1:42,6:27:-16.25,-8.14,-83.13:81.15 -chr1 1064534 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=3;HaplotypeScore=5.91;MQ=22.24;MQ0=19;OQ=77.81;QD=1.62;SB=-10.00 GT:AD:DP:GL:GQ 0/1:26,22:23:-17.99,-6.93,-63.10:99 -chr1 1064544 . G A 18.70 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=0;HaplotypeScore=9.26;MQ=23.84;MQ0=13;QD=0.45;SB=-10.00 GT:AD:DP:GL:GQ 0/1:39,3:23:-12.08,-6.93,-67.67:51.47 -chr1 1064666 . G A 28.24 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=17.49;MQ0=7;QD=1.34;SB=-10.00 GT:AD:DP:GL:GQ 0/1:19,2:4:-7.31,-1.21,-6.24:50.32 -chr1 1064676 . G A 32.25 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=1;HaplotypeScore=3.94;MQ=15.31;MQ0=8;QD=1.61;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,4:3:-7.41,-0.90,-3.57:26.65 -chr1 1064678 . A G 13.68 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=15.31;MQ0=8;QD=0.68;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,5:3:-5.54,-0.90,-4.06:31.54 -chr1 1065083 . T G 0.75 PASS AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;HRun=3;HaplotypeScore=1.47;MQ=13.28;MQ0=6;OQ=72.14;QD=8.02;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,7:3:-10.70,-0.90,-0.00:9.03 -chr1 1065545 . A T 15.58 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=6.82;MQ=15.84;MQ0=10;QD=0.78;SB=-20.32 GT:AD:DP:GL:GQ 0/1:16,4:8:-7.24,-2.41,-23.49:48.29 -chr1 1065754 . T G 10.50 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=3;HaplotypeScore=0.98;MQ=26.23;MQ0=5;QD=0.50;SB=-7.00 GT:AD:DP:GL:GQ 0/1:10,11:9:-7.00,-2.71,-25.01:42.93 -chr1 1065788 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=4;HaplotypeScore=1.91;MQ=35.15;MQ0=3;OQ=426.85;QD=16.42;SB=-65.33 GT:AD:DP:GL:GQ 0/1:10,16:20:-52.00,-6.03,-21.27:99 -chr1 1065876 rs34294086 G T 14.09 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=3.05;MQ=16.68;MQ0=19;QD=0.25;SB=-0.98 GT:AD:DP:GL:GQ 0/1:47,10:18:-10.10,-5.43,-46.58:46.75 -chr1 1065896 rs34976191 A G 3.15 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=25.24;MQ0=16;OQ=221.06;QD=5.02;SB=-47.30 GT:AD:DP:GL:GQ 0/1:32,12:17:-30.51,-5.13,-29.81:99 -chr1 1065898 rs35853231 G A 14.06 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=25.42;MQ0=15;OQ=228.24;QD=5.43;SB=-22.49 GT:AD:DP:GL:GQ 0/1:33,9:15:-30.63,-4.52,-21.87:99 -chr1 1066927 rs4970357 C A 263.23 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=704.25;QD=32.01;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,22:21:-74.02,-6.32,-0.01:63.19 -chr1 1067825 rs55750860 C T 23.40 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=1.51;MQ=58.95;MQ0=0;OQ=1494.41;QD=37.36;SB=-613.01 GT:AD:DP:GL:GQ 1/1:0,40:39:-153.04,-11.75,-0.01:99 -chr1 1070149 rs1539638 G A 498.18 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1278.23;QD=37.59;SB=-657.67 GT:AD:DP:GL:GQ 1/1:0,34:33:-131.42,-9.94,-0.01:99 -chr1 1070766 . C G 0.10 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=47.59;MQ0=0;OQ=113.71;QD=2.58;SB=-2.32 GT:AD:DP:GL:GQ 0/1:34,9:39:-26.42,-11.76,-133.80:99 -chr1 1070768 . C T 0.13 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=46.93;MQ0=0;OQ=115.95;QD=2.64;SB=-32.19 GT:AD:DP:GL:GQ 0/1:34,10:38:-26.33,-11.45,-104.66:99 -chr1 1070788 rs1539637 G C 8.38 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=3;HaplotypeScore=2.86;MQ=44.98;MQ0=0;OQ=574.54;QD=14.73;SB=-154.58 GT:AD:DP:GL:GQ 0/1:22,17:37:-71.91,-11.17,-77.14:99 -chr1 1070790 rs4512588 T C 118.97 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.33;MQ=44.52;MQ0=0;OQ=439.51;QD=11.57;SB=-120.73 GT:AD:DP:GL:GQ 0/1:20,18:36:-58.08,-10.85,-73.14:99 -chr1 1070804 . T C 317.73 Indel AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.72;MQ=43.50;MQ0=0;QD=8.83;SB=-125.65 GT:AD:DP:GL:GQ 0/1:20,16:34:-45.31,-10.25,-78.50:99 -chr1 1070810 . T C 59.59 Indel AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=2;HaplotypeScore=0.92;MQ=42.56;MQ0=0;QD=1.92;SB=-21.88 GT:AD:DP:GL:GQ 0/1:21,10:26:-17.08,-7.83,-82.36:92.43 -chr1 1070825 . C T 12.15 LowQual AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=46.99;MQ0=0;QD=0.45;SB=-5.49 GT:AD:DP:GL:GQ 0/1:24,3:26:-12.31,-7.84,-75.55:44.71 -chr1 1070828 . C T 17.92 LowQual AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=46.99;MQ0=0;QD=0.66;SB=-11.45 GT:AD:DP:GL:GQ 0/1:24,3:24:-12.30,-7.23,-73.32:50.69 -chr1 1074807 . T G 14.10 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=33;Dels=0.00;HRun=4;HaplotypeScore=1.72;MQ=58.59;MQ0=0;QD=0.43;SB=59.21 GT:AD:DP:GL:GQ 0/1:24,8:27:-12.81,-8.13,-82.30:46.77 -chr1 1075432 . C T 38.87 PASS AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.24;MQ=57.97;MQ0=0;OQ=818.81;QD=17.80;SB=-345.86 GT:AD:DP:GL:GQ 0/1:20,26:46:-99.04,-13.88,-63.69:99 -chr1 1077546 rs9442380 T C 202.60 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.63;MQ0=0;OQ=2295.26;QD=29.81;SB=-1162.13 GT:AD:DP:GL:GQ 1/1:0,76:73:-233.18,-22.02,-0.07:99 -chr1 1079125 rs4970358 A G 12.32 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=5.70;MQ=59.35;MQ0=0;OQ=2374.58;QD=33.44;SB=-995.95 GT:AD:DP:GL:GQ 1/1:0,69:68:-244.00,-23.26,-2.96:99 -chr1 1079873 rs9442361 C A 5.87 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=3;HaplotypeScore=1.89;MQ=53.07;MQ0=0;OQ=1204.88;QD=33.47;SB=-532.76 GT:AD:DP:GL:GQ 1/1:0,36:34:-124.08,-10.24,-0.01:99 -chr1 1080440 rs6604972 A G 531.63 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.88;MQ0=0;OQ=1807.70;QD=30.64;SB=-735.76 GT:AD:DP:GL:GQ 1/1:0,59:56:-184.40,-16.89,-0.04:99 -chr1 1082462 rs56863140 G C 99.95 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.04;MQ0=0;OQ=146.93;QD=24.49;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,6:5:-18.26,-1.52,-0.01:15.05 -chr1 1084348 rs4970360 C T 64.65 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=1.36;MQ=58.41;MQ0=0;OQ=1613.83;QD=36.68;SB=-777.04 GT:AD:DP:GL:GQ 1/1:0,44:42:-164.99,-12.66,-0.02:99 -chr1 1084535 rs4970361 A C 88.25 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.74;MQ=58.78;MQ0=1;OQ=1424.16;QD=32.37;SB=-688.05 GT:AD:DP:GL:GQ 1/1:1,43:41:-146.01,-12.35,-0.01:99 -chr1 1084601 rs4970362 A G 229.75 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.71;MQ=59.53;MQ0=0;OQ=1464.98;QD=29.90;SB=-668.84 GT:AD:DP:GL:GQ 1/1:0,49:47:-150.13,-14.18,-0.04:99 -chr1 1084842 rs7538773 G A 9.80 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=58.13;MQ0=0;OQ=1279.59;QD=36.56;SB=-199.76 GT:AD:DP:GL:GQ 1/1:0,33:33:-131.55,-9.94,-0.01:99 -chr1 1085246 rs6604973 G A 85.72 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.20;MQ=59.42;MQ0=0;OQ=1511.71;QD=37.79;SB=-646.86 GT:AD:DP:GL:GQ 1/1:0,40:38:-154.76,-11.45,-0.01:99 -chr1 1085482 rs4970419 C G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=7;HaplotypeScore=2.24;MQ=59.45;MQ0=0;OQ=1670.84;QD=39.78;SB=-828.31 GT:AD:DP:GL:GQ 1/1:0,42:40:-170.69,-12.06,-0.02:99 -chr1 1085874 rs9442381 C G 314.67 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.11;MQ0=0;OQ=1195.39;QD=38.56;SB=-412.65 GT:AD:DP:GL:GQ 1/1:0,31:28:-123.13,-8.44,-0.01:84.28 -chr1 1086061 rs9442382 C T 139.37 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.65;MQ0=0;OQ=990.01;QD=38.08;SB=-164.21 GT:AD:DP:GL:GQ 1/1:0,26:26:-102.60,-7.84,-0.01:78.25 -chr1 1086771 rs1539636 T C 148.49 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=60.00;MQ0=0;OQ=1262.30;QD=33.22;SB=-642.89 GT:AD:DP:GL:GQ 1/1:0,38:37:-129.83,-11.15,-0.02:99 -chr1 1086955 rs1539635 G A 48.48 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=56.37;MQ0=0;OQ=1687.66;QD=35.91;SB=-612.00 GT:AD:DP:GL:GQ 1/1:0,47:43:-172.36,-12.95,-0.01:99 -chr1 1086963 rs1539634 C T 83.45 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=56.95;MQ0=0;OQ=1761.33;QD=36.69;SB=-642.86 GT:AD:DP:GL:GQ 1/1:0,48:45:-179.73,-13.56,-0.02:99 -chr1 1087150 rs9442384 T C 36.04 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.26;MQ=59.81;MQ0=0;OQ=1429.90;QD=29.79;SB=-636.25 GT:AD:DP:GL:GQ 1/1:0,48:46:-146.63,-13.88,-0.05:99 -chr1 1087198 rs9442385 T G 89.37 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.13;MQ=57.84;MQ0=0;OQ=1240.37;QD=26.39;SB=-556.87 GT:AD:DP:GL:GQ 1/1:0,47:40:-127.66,-12.06,-0.04:99 -chr1 1087800 rs1891907 A G 2.98 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=57.36;MQ0=0;OQ=810.89;QD=32.44;SB=-193.80 GT:AD:DP:GL:GQ 1/1:0,25:24:-84.68,-7.23,-0.01:72.21 -chr1 1088284 rs12135382 C T 198.45 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=312.05;QD=28.37;SB=-50.56 GT:AD:DP:GL:GQ 1/1:0,11:9:-34.79,-2.71,-0.00:27.09 -chr1 1088577 rs4379629 C G 8.91 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=217.53;QD=24.17;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,9:7:-25.35,-2.12,-0.02:21.06 -chr1 1089205 rs9660710 A C 62.17 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=60.00;MQ0=0;OQ=1253.07;QD=26.66;SB=-477.88 GT:AD:DP:GL:GQ 1/1:0,47:40:-128.93,-12.06,-0.03:99 -chr1 1090080 rs1891905 C T 107.83 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=58.89;MQ0=0;OQ=1593.75;QD=37.95;SB=-678.31 GT:AD:DP:GL:GQ 1/1:0,42:41:-162.97,-12.35,-0.01:99 -chr1 1090182 rs1891904 C A 413.02 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.03;MQ0=0;OQ=739.19;QD=30.80;SB=-375.45 GT:AD:DP:GL:GQ 1/1:0,24:22:-77.51,-6.63,-0.01:66.17 -chr1 1090866 rs7549819 C T 73.60 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=2.51;MQ=59.25;MQ0=0;OQ=998.72;QD=32.22;SB=-450.59 GT:AD:DP:GL:GQ 1/1:1,30:27:-103.47,-8.14,-0.02:81.25 -chr1 1091932 rs9442386 A G 1.23 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=172.84;QD=21.61;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,8:7:-20.87,-2.12,-0.01:21.04 -chr1 1093405 rs7518873 T C 57.10 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=57.77;MQ0=0;OQ=646.68;QD=30.79;SB=-268.71 GT:AD:DP:GL:GQ 1/1:0,21:20:-68.26,-6.03,-0.01:60.16 -chr1 1093821 rs7521584 T G 116.26 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=58.95;MQ0=0;OQ=1316.49;QD=29.92;SB=-587.88 GT:AD:DP:GL:GQ 1/1:0,44:43:-135.27,-12.96,-0.04:99 -chr1 1095101 rs9442362 T C 65.07 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.90;MQ=60.00;MQ0=0;OQ=375.39;QD=7.99;SB=-207.86 GT:AD:DP:GL:GQ 0/1:27,20:44:-54.09,-13.27,-100.76:99 -chr1 1095924 rs6656236 G A 130.43 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.56;MQ=57.77;MQ0=0;OQ=609.61;QD=16.04;SB=-273.30 GT:AD:DP:GL:GQ 0/1:18,20:34:-74.49,-10.25,-50.31:99 -chr1 1096647 rs4442317 T C 203.56 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.76;MQ=59.13;MQ0=0;OQ=506.89;QD=10.56;SB=-244.47 GT:AD:DP:GL:GQ 0/1:29,19:48:-68.44,-14.47,-111.87:99 -chr1 1114401 rs11577350 G A 483.74 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=1009.34;QD=13.28;SB=-463.05 GT:AD:DP:GL:GQ 0/1:45,31:75:-126.83,-22.61,-139.35:99 -chr1 1114613 rs6702156 T C 467.81 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.71;MQ0=0;OQ=978.73;QD=12.23;SB=-374.99 GT:AD:DP:GL:GQ 0/1:42,38:78:-124.66,-23.50,-162.90:99 -chr1 1127805 . C T 17.93 LowQual AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=47.96;MQ0=1;QD=0.48;SB=-4.44 GT:AD:DP:GL:GQ 0/1:29,6:21:-11.40,-6.33,-63.23:50.69 -chr1 1133298 rs55945303 G A 59.18 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.92;MQ0=0;OQ=925.55;QD=21.52;SB=-252.58 GT:AD:DP:GL:GQ 0/1:14,29:40:-107.89,-12.05,-42.24:99 -chr1 1139524 rs35878953 C T 131.94 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=58.24;MQ0=0;OQ=799.98;QD=18.60;SB=-423.99 GT:AD:DP:GL:GQ 0/1:17,25:37:-94.44,-11.16,-36.66:99 -chr1 1148494 rs6603781 A G 136.52 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.05;MQ0=0;OQ=1330.48;QD=27.15;SB=-433.29 GT:AD:DP:GL:GQ 1/1:0,49:42:-136.66,-12.66,-0.03:99 -chr1 1149380 rs6702268 T C 227.72 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.80;MQ0=0;OQ=961.17;QD=27.46;SB=-122.75 GT:AD:DP:GL:GQ 1/1:0,35:31:-99.73,-9.35,-0.03:93.18 -chr1 1152189 rs4970423 A G 15.48 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.33;MQ=59.39;MQ0=0;OQ=1088.52;QD=28.65;SB=-378.40 GT:AD:DP:GL:GQ 1/1:0,38:34:-112.46,-10.25,-0.02:99 -chr1 1161280 rs6603782 C T 102.99 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=59.00;MQ0=0;OQ=708.75;QD=16.88;SB=-201.20 GT:AD:DP:GL:GQ 0/1:20,22:40:-86.21,-12.05,-64.42:99 -chr1 1162770 rs715643 C T 309.12 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=57.65;MQ0=0;OQ=561.34;QD=14.77;SB=-301.32 GT:AD:DP:GL:GQ 0/1:18,19:36:-70.27,-10.85,-55.47:99 -chr1 1171665 . C T 4.62 PASS AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.39;MQ0=0;OQ=105.76;QD=11.75;SB=-6.99 GT:AD:DP:GL:GQ 0/1:5,4:9:-16.57,-2.71,-16.65:99 -chr1 1178813 . G C 27.28 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=1;HaplotypeScore=10.95;MQ=55.60;MQ0=0;QD=0.43;SB=74.28 GT:AD:DP:GL:GQ 0/1:46,17:41:-18.38,-12.37,-155.87:60.10 -chr1 1182131 . G A 44.09 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=52;Dels=0.04;HRun=20;HaplotypeScore=11.11;MQ=50.33;MQ0=0;QD=0.85;SB=65.22 GT:AD:DP:GL:GQ 0/1:38,12:42:-20.05,-12.36,-125.30:76.92 -chr1 1183574 . T C 30.78 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=5;HaplotypeScore=13.00;MQ=56.93;MQ0=0;QD=0.83;SB=23.10 GT:AD:DP:GL:GQ 0/1:22,15:21:-12.69,-6.33,-67.62:63.61 -chr1 1186726 rs6659787 T C 444.24 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=1920.21;QD=33.11;SB=-425.81 GT:AD:DP:GL:GQ 1/1:0,58:55:-195.63,-16.57,-0.02:99 -chr1 1194535 . A G 16.67 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=1;HaplotypeScore=6.08;MQ=52.52;MQ0=1;QD=0.32;SB=29.11 GT:AD:DP:GL:GQ 0/1:42,10:39:-16.70,-11.76,-128.34:49.41 -chr1 1204684 rs34258594 C T 26.14 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=41.53;MQ0=1;OQ=534.60;QD=15.27;SB=-99.92 GT:AD:DP:GL:GQ 0/1:16,19:32:-66.39,-9.65,-50.26:99 -chr1 1206810 . C A 15.67 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=28;Dels=0.00;HRun=1;HaplotypeScore=1.82;MQ=59.17;MQ0=0;QD=0.56;SB=17.05 GT:AD:DP:GL:GQ 0/1:19,7:21:-11.17,-6.33,-52.97:48.38 -chr1 1212553 . C T 5.74 PASS AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=5.06;MQ=57.97;MQ0=0;OQ=298.13;QD=12.96;SB=-173.70 GT:AD:DP:GL:GQ 0/1:12,11:19:-38.83,-5.73,-27.23:99 -chr1 1213523 . A T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=15.57;MQ=33.50;MQ0=4;OQ=59.03;QD=3.28;SB=2.04 GT:AD:DP:GL:GQ 0/1:9,9:9:-11.90,-2.71,-23.47:91.86 -chr1 1213617 . C T 7.11 PASS AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=3.14;MQ=18.72;MQ0=10;OQ=134.34;QD=6.72;SB=-10.00 GT:AD:DP:GL:GQ 1/1:5,15:4:-16.97,-1.20,-0.00:12.04 -chr1 1213622 . T C 11.33 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=2;HaplotypeScore=3.30;MQ=19.74;MQ0=10;QD=0.49;SB=-3.98 GT:AD:DP:GL:GQ 0/1:20,3:7:-6.49,-2.11,-18.92:43.83 -chr1 1213635 . C T 23.33 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=18.06;MQ0=13;QD=0.75;SB=-33.62 GT:AD:DP:GL:GQ 0/1:24,7:9:-8.33,-2.71,-24.32:56.15 -chr1 1213653 . C T 47.94 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.74;MQ=17.89;MQ0=21;QD=1.00;SB=-23.48 GT:AD:DP:GL:GQ 0/1:37,11:13:-11.99,-3.92,-35.04:80.78 -chr1 1213671 . C T 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=22.77;MQ0=22;OQ=90.19;QD=1.80;SB=-17.46 GT:AD:DP:GL:GQ 0/1:28,22:20:-18.33,-6.03,-51.67:99 -chr1 1213694 . T C 39.97 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=2;HaplotypeScore=8.39;MQ=23.73;MQ0=21;QD=0.73;SB=-15.88 GT:AD:DP:GL:GQ 0/1:51,4:21:-13.61,-6.33,-64.53:72.80 -chr1 1213750 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=7.03;MQ=25.74;MQ0=11;OQ=59.44;QD=1.56;SB=-49.23 GT:AD:DP:GL:GQ 0/1:22,16:17:-14.35,-5.12,-45.82:92.28 -chr1 1213763 . C T 47.85 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=26.61;MQ0=8;QD=1.65;SB=-29.61 GT:AD:DP:GL:GQ 0/1:21,8:13:-11.99,-3.92,-33.55:80.68 -chr1 1213781 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=1;HaplotypeScore=3.20;MQ=28.82;MQ0=7;OQ=70.59;QD=2.82;SB=-20.63 GT:AD:DP:GL:GQ 0/1:21,4:13:-14.26,-3.92,-34.86:99 -chr1 1213884 . C T 18.32 PASS AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=20.52;MQ0=9;OQ=123.88;QD=9.53;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,11:4:-15.92,-1.20,-0.00:12.04 -chr1 1213994 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=2;HaplotypeScore=2.99;MQ=9.42;MQ0=22;OQ=67.77;QD=1.94;SB=-42.68 GT:AD:DP:GL:GQ 0/1:31,4:4:-11.26,-1.21,-2.97:17.61 -chr1 1214386 . C T 18.53 PASS AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=12.80;MQ0=7;OQ=79.89;QD=6.15;SB=-52.67 GT:AD:DP:GL:GQ 1/1:3,10:3:-11.48,-0.90,-0.00:9.03 -chr1 1214538 . C T 13.99 PASS AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=21.76;MQ0=3;OQ=222.41;QD=22.24;SB=-119.99 GT:AD:DP:GL:GQ 1/1:1,9:7:-25.82,-2.11,-0.00:21.06 -chr1 1214556 . C T 78.88 PASS AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=21.62;MQ0=3;OQ=125.22;QD=13.91;SB=-42.55 GT:AD:DP:GL:GQ 1/1:2,7:4:-16.06,-1.21,-0.00:12.04 -chr1 1214569 . C T 4.09 PASS AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=21.21;MQ0=3;OQ=121.10;QD=17.30;SB=-81.10 GT:AD:DP:GL:GQ 1/1:3,4:4:-15.65,-1.21,-0.00:12.04 -chr1 1214849 . T C 10.83 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=11.01;MQ0=15;QD=0.39;SB=-10.00 GT:AD:DP:GL:GQ 0/1:20,8:6:-6.14,-1.81,-16.12:43.30 -chr1 1214919 . A T 0.53 PASS AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=4.77;MQ=20.32;MQ0=10;OQ=98.85;QD=4.94;SB=-69.74 GT:AD:DP:GL:GQ 0/1:10,9:7:-15.28,-2.11,-10.80:86.87 -chr1 1215102 . A T 1.26 PASS AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=20.59;MQ0=9;OQ=98.25;QD=4.91;SB=-47.98 GT:AD:DP:GL:GQ 0/1:4,16:7:-15.22,-2.11,-12.20:99 -chr1 1215147 . T C 24.78 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=2;HaplotypeScore=5.19;MQ=18.98;MQ0=32;QD=0.28;SB=-36.82 GT:AD:DP:GL:GQ 0/1:83,7:38:-17.21,-11.45,-127.57:57.61 -chr1 1215165 . C T 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=20.48;MQ0=21;OQ=101.26;QD=1.35;SB=26.10 GT:AD:DP:GL:GQ 0/1:48,27:30:-22.45,-9.04,-79.18:99 -chr1 1215324 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=1;HaplotypeScore=4.60;MQ=26.05;MQ0=19;OQ=186.49;QD=2.49;SB=8.19 GT:AD:DP:GL:GQ 0/1:60,15:45:-35.50,-13.57,-130.76:99 -chr1 1227467 rs2296475 T C 67.24 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=2.76;MQ=59.44;MQ0=0;OQ=1380.81;QD=33.68;SB=-616.59 GT:AD:DP:GL:GQ 1/1:0,40:39:-141.68,-11.75,-0.01:99 -chr1 1227692 rs11586188 G A 13.68 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=2;HaplotypeScore=2.73;MQ=60.00;MQ0=0;OQ=456.88;QD=14.74;SB=-204.92 GT:AD:DP:GL:GQ 0/1:15,16:30:-58.02,-9.04,-49.24:99 -chr1 1228900 . T C 25.48 LowQual AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=4;HaplotypeScore=1.75;MQ=56.48;MQ0=0;QD=0.75;SB=-20.62 GT:AD:DP:GL:GQ 0/1:26,7:28:-14.27,-8.44,-89.93:58.30 -chr1 1229202 rs11260584 T G 37.45 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.34;MQ0=0;OQ=976.99;QD=27.91;SB=-499.87 GT:AD:DP:GL:GQ 1/1:0,35:32:-101.31,-9.64,-0.03:96.16 -chr1 1229816 rs10399878 A G 473.23 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1102.82;QD=26.90;SB=-522.83 GT:AD:DP:GL:GQ 1/1:0,41:37:-113.91,-11.17,-0.05:99 -chr1 1231392 rs1536168 A G 97.21 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.82;MQ0=0;OQ=1395.06;QD=27.90;SB=-606.94 GT:AD:DP:GL:GQ 1/1:0,50:45:-143.13,-13.57,-0.04:99 -chr1 1231663 rs3737720 A G 139.66 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.21;MQ=58.81;MQ0=0;OQ=1690.11;QD=30.73;SB=-679.26 GT:AD:DP:GL:GQ 1/1:0,55:50:-172.62,-15.06,-0.03:99 -chr1 1231766 rs3737719 C G 2.42 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=2;HaplotypeScore=1.43;MQ=58.78;MQ0=0;OQ=1400.23;QD=36.85;SB=-370.18 GT:AD:DP:GL:GQ 1/1:0,38:34:-143.63,-10.26,-0.03:99 -chr1 1232078 rs4970431 A G 216.41 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=1612.70;QD=32.91;SB=-685.61 GT:AD:DP:GL:GQ 1/1:0,49:46:-164.87,-13.86,-0.01:99 -chr1 1232570 rs2274262 A G 6.01 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=2.33;MQ=58.39;MQ0=0;OQ=927.22;QD=31.97;SB=-261.82 GT:AD:DP:GL:GQ 1/1:0,28:29:-99.47,-11.27,-3.16:81.12 -chr1 1232846 rs2887285 G A 7.05 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=60.00;MQ0=0;OQ=156.17;QD=26.03;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,5:5:-19.18,-1.51,-0.00:15.05 -chr1 1233759 rs61766198 C T 47.25 LowQual AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;QD=23.62;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,2:2:-8.13,-0.60,-0.00:6.02 -chr1 1235231 rs11590283 G A 557.67 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.42;MQ0=0;OQ=1461.68;QD=36.54;SB=-745.00 GT:AD:DP:GL:GQ 1/1:1,39:37:-149.76,-11.15,-0.01:99 -chr1 1235867 rs2296474 A G 712.67 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.51;MQ0=0;OQ=1812.39;QD=34.20;SB=-908.32 GT:AD:DP:GL:GQ 1/1:0,53:53:-184.85,-15.97,-0.02:99 -chr1 1237357 rs12103 T C 207.29 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.95;MQ0=0;OQ=647.94;QD=29.45;SB=-286.45 GT:AD:DP:GL:GQ 1/1:0,22:21:-68.40,-6.33,-0.02:63.15 -chr1 1237452 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=11;Dels=0.00;HRun=10;HaplotypeScore=2.81;MQ=58.76;MQ0=0;OQ=54.80;QD=4.98;SB=-3.98 GT:AD:DP:GL:GQ 0/1:7,4:6:-10.58,-1.82,-11.64:87.64 -chr1 1239050 rs12142199 G A 66.55 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=3;HaplotypeScore=1.62;MQ=58.97;MQ0=0;OQ=2440.21;QD=38.73;SB=-1144.03 GT:AD:DP:GL:GQ 1/1:1,62:62:-247.62,-18.68,-0.02:99 -chr1 1239352 . C G 26.31 PASS AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=58.82;MQ0=0;OQ=1214.59;QD=20.59;SB=-515.28 GT:AD:DP:GL:GQ 0/1:25,34:56:-141.62,-16.88,-95.25:99 -chr1 1242263 rs55998830 C T 160.41 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=57.24;MQ0=0;OQ=503.69;QD=12.29;SB=-134.60 GT:AD:DP:GL:GQ 0/1:23,18:39:-65.41,-11.76,-71.08:99 -chr1 1243999 rs4970432 G A 36.99 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=2.94;MQ=58.63;MQ0=0;OQ=2692.59;QD=39.60;SB=-1179.08 GT:AD:DP:GL:GQ 1/1:0,68:67:-272.86,-20.18,-0.01:99 -chr1 1244299 rs1886773 A G 203.79 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.45;MQ=59.11;MQ0=0;OQ=1463.44;QD=28.14;SB=-748.56 GT:AD:DP:GL:GQ 1/1:0,52:48:-149.98,-14.48,-0.05:99 -chr1 1244306 rs1886772 G A 170.95 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.23;MQ=58.89;MQ0=0;OQ=2428.21;QD=38.54;SB=-1150.05 GT:AD:DP:GL:GQ 1/1:0,63:62:-246.42,-18.68,-0.02:99 -chr1 1244704 rs10907179 C G 226.16 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.69;MQ0=0;OQ=2474.22;QD=40.56;SB=-1116.55 GT:AD:DP:GL:GQ 1/1:0,61:58:-251.03,-17.48,-0.03:99 -chr1 1245150 rs10449892 C T 372.09 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1031.28;QD=35.56;SB=-512.17 GT:AD:DP:GL:GQ 1/1:0,29:28:-106.73,-8.44,-0.02:84.26 -chr1 1247456 rs1810745 A G 110.17 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=54.75;MQ0=0;OQ=1043.28;QD=28.20;SB=-313.49 GT:AD:DP:GL:GQ 1/1:0,37:33:-107.94,-9.95,-0.02:99 -chr1 1256339 rs28704486 A G 29.57 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=16.01;MQ0=0;OQ=60.16;QD=4.63;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,13:3:-9.51,-0.90,-0.00:9.02 -chr1 1258710 rs307378 T G 2.23 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=76.83;QD=25.61;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,3:3:-11.17,-0.90,-0.00:9.03 -chr1 1259417 rs307377 T C 101.96 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=21.92;MQ0=3;OQ=105.39;QD=15.06;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,7:4:-14.07,-1.20,-0.00:12.04 -chr1 1260192 rs188647 A G 29.27 LowQual AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=14.64;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,2:2:-6.34,-0.60,-0.00:6.01 -chr1 1260222 rs307374 T C 0.04 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=63.98;QD=21.33;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,3:3:-9.89,-0.91,-0.00:9.02 -chr1 1262360 rs307372 A G 1.31 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.52;MQ=35.06;MQ0=0;OQ=290.20;QD=24.18;SB=-151.34 GT:AD:DP:GL:GQ 1/1:0,12:11:-32.62,-3.32,-0.02:33.05 -chr1 1262979 rs307371 A G 118.35 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=35.17;MQ0=0;OQ=96.93;QD=24.23;SB=-72.91 GT:AD:DP:GL:GQ 1/1:0,4:4:-13.23,-1.21,-0.00:12.03 -chr1 1263141 rs307370 A G 373.13 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=45.14;MQ0=0;OQ=479.19;QD=34.23;SB=-188.41 GT:AD:DP:GL:GQ 1/1:0,14:14:-51.51,-4.22,-0.00:42.13 -chr1 1265154 rs11582808 G A 10.31 PASS AC=1;AF=0.50;AN=2;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=44.52;MQ0=0;OQ=273.35;QD=19.53;SB=-116.97 GT:AD:DP:GL:GQ 0/1:5,9:13:-34.54,-3.92,-12.73:88.15 -chr1 1266341 rs307364 T G 24.11 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=1.44;MQ=22.99;MQ0=5;OQ=64.81;QD=5.40;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,10:3:-9.97,-0.90,-0.00:9.02 -chr1 1267396 rs17854636 T C 111.78 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=34.81;MQ0=1;OQ=372.39;QD=23.27;SB=-142.72 GT:AD:DP:GL:GQ 1/1:0,16:13:-40.84,-3.92,-0.02:39.08 -chr1 1268100 rs307361 T C 193.77 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=33.78;MQ0=3;OQ=449.98;QD=25.00;SB=-194.71 GT:AD:DP:GL:GQ 1/1:0,18:15:-48.59,-4.52,-0.01:45.11 -chr1 1268888 rs307360 A G 2.79 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=29.77;MQ0=0;OQ=268.28;QD=26.83;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,9:9:-30.42,-2.71,-0.01:27.07 -chr1 1270382 rs307358 T C 22.61 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=83.45;QD=20.86;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,4:4:-11.88,-1.21,-0.01:12.02 -chr1 1276604 . G C 27.05 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.66;MQ=11.97;MQ0=10;QD=1.29;SB=-10.00 GT:AD:DP:GL:GQ 0/1:9,12:4:-7.20,-1.21,-7.49:59.88 -chr1 1276657 rs35104845 C T 49.02 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=23.40;MQ0=3;OQ=76.78;QD=6.98;SB=-10.00 GT:AD:DP:GL:GQ 1/1:5,5:3:-11.17,-0.90,-0.00:9.03 -chr1 1276684 rs61766214 G C 3.73 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=32.46;MQ0=2;OQ=374.70;QD=28.82;SB=-82.81 GT:AD:DP:GL:GQ 1/1:1,12:10:-41.06,-3.02,-0.01:30.10 -chr1 1276760 rs34380086 G C 256.91 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=36.61;MQ0=0;OQ=915.51;QD=35.21;SB=-194.53 GT:AD:DP:GL:GQ 1/1:0,26:24:-95.15,-7.24,-0.02:72.23 -chr1 1276990 rs56165241 G A 0.14 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=23.71;MQ0=1;OQ=124.88;QD=20.81;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,6:4:-16.02,-1.20,-0.00:12.04 -chr1 1278208 rs13249 A G 0.03 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.00;HRun=4;HaplotypeScore=0.79;MQ=29.00;MQ0=0;OQ=519.51;QD=34.63;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,15:15:-55.54,-4.52,-0.01:45.13 -chr1 1278334 rs3766183 C T 70.79 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=12.77;MQ0=25;OQ=129.88;QD=4.48;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,29:4:-16.52,-1.20,-0.00:12.04 -chr1 1279774 rs4970365 G A 205.12 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=37.02;MQ0=1;OQ=413.00;QD=27.53;SB=-81.33 GT:AD:DP:GL:GQ 1/1:0,15:12:-44.89,-3.62,-0.01:36.11 -chr1 1283627 rs34841888 G C 242.04 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=17.25;MQ0=18;OQ=165.64;QD=7.20;SB=-87.83 GT:AD:DP:GL:GQ 1/1:0,23:5:-20.13,-1.51,-0.00:15.05 -chr1 1284791 rs2649608 A G 15.70 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=325.53;QD=25.04;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,13:12:-36.15,-3.62,-0.02:36.07 -chr1 1285186 rs34389364 G A 48.74 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=44.84;MQ0=0;OQ=775.48;QD=28.72;SB=-269.63 GT:AD:DP:GL:GQ 1/1:0,25:23:-81.16,-6.94,-0.03:69.18 -chr1 1285266 rs34876581 T C 166.99 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=42.89;MQ0=0;OQ=1629.47;QD=31.95;SB=-823.96 GT:AD:DP:GL:GQ 1/1:0,51:47:-166.55,-14.16,-0.02:99 -chr1 1285545 rs61766236 A G 14.70 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=53.58;MQ0=0;OQ=756.88;QD=26.10;SB=-99.85 GT:AD:DP:GL:GQ 1/1:0,29:25:-79.29,-7.54,-0.02:75.15 -chr1 1285750 . T C 31.55 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=14.50;MQ0=6;QD=3.94;SB=-38.95 GT:AD:DP:GL:GQ 1/1:0,8:2:-6.56,-0.60,-0.00:6.01 -chr1 1286016 rs2765027 T G 82.17 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=481.12;QD=30.07;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,16:16:-51.71,-4.82,-0.01:48.07 -chr1 1286554 rs2765025 C G 315.48 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=27.90;MQ0=0;OQ=1204.51;QD=36.50;SB=-193.69 GT:AD:DP:GL:GQ 1/1:0,33:29:-124.04,-8.74,-0.01:87.29 -chr1 1286681 rs2765024 C G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=6;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=715.35;QD=35.77;SB=-192.69 GT:AD:DP:GL:GQ 1/1:0,20:18:-75.13,-5.42,-0.01:54.18 -chr1 1286922 rs35056373 G A 454.44 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=43.41;MQ0=1;OQ=1368.71;QD=34.22;SB=-459.59 GT:AD:DP:GL:GQ 1/1:0,40:36:-140.48,-10.85,-0.02:99 -chr1 1287079 rs2649611 A G 142 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=35.17;MQ0=0;OQ=99.93;QD=24.98;SB=-76.36 GT:AD:DP:GL:GQ 1/1:0,4:4:-13.53,-1.21,-0.00:12.03 -chr1 1287285 rs2765021 C T 19.52 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=27.13;MQ0=1;OQ=211.29;QD=26.41;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,8:6:-24.70,-1.81,-0.00:18.06 -chr1 1287346 . G A 32.26 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.41;MQ=19.54;MQ0=6;QD=3.23;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,5:4:-7.72,-1.21,-5.84:46.31 -chr1 1287498 rs34896744 G A 28.51 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=522.90;QD=37.35;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,14:14:-55.88,-4.22,-0.00:42.14 -chr1 1288153 . C T 10.16 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=6.84;MQ0=17;QD=0.56;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,3:1:-4.26,-0.30,-0.00:1.76 -chr1 1288274 rs4970439 C T 158.39 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.76;MQ0=1;OQ=198.94;QD=24.87;SB=-120.99 GT:AD:DP:GL:GQ 1/1:0,8:6:-23.47,-1.81,-0.00:18.06 -chr1 1288396 rs9700464 T G 39.49 LowQual AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=19.48;MQ0=3;QD=7.90;SB=-46.01 GT:AD:DP:GL:GQ 1/1:0,5:2:-7.36,-0.60,-0.00:6.02 -chr1 1288400 rs2477784 C T 45.25 LowQual AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=21.37;MQ0=1;QD=15.08;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,3:2:-7.93,-0.60,-0.00:6.02 -chr1 1288965 . T C 42.83 LowQual AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;HRun=3;HaplotypeScore=1.16;MQ=15.81;MQ0=3;QD=8.57;SB=-10.00 GT:AD:DP:GL:GQ 1/1:3,2:2:-7.69,-0.60,-0.00:6.02 -chr1 1288989 . G A 32 LowQual AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=17.68;MQ0=2;QD=8.00;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,2:2:-6.61,-0.60,-0.00:6.01 -chr1 1288993 . G A 39.02 LowQual AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=17.68;MQ0=2;QD=9.75;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,2:2:-7.31,-0.60,-0.00:6.02 -chr1 1289038 . G A 46.02 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=8.33;MQ0=16;QD=2.56;SB=-10.00 GT:AD:DP:GL:GQ 1/1:16,2:2:-8.01,-0.60,-0.00:6.02 -chr1 1289229 rs28368296 C T 48.25 LowQual AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=23.68;MQ0=1;QD=16.08;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,2:2:-8.23,-0.60,-0.00:6.02 -chr1 1292190 . A C 28.74 DPFilter;HARD_TO_VALIDATE;Indel;LowQual AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=31.67;MQ=32.93;MQ0=5;QD=1.44;SB=2.03 GT:AD:DP:GL:GQ 0/1:14,6:12:-9.77,-3.62,-33.18:61.57 -chr1 1292271 rs61766242 A G 18.08 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=30.84;MQ0=4;OQ=1066.32;QD=26.66;SB=-193.80 GT:AD:DP:GL:GQ 1/1:0,40:32:-110.23,-9.64,-0.01:96.27 -chr1 1292418 rs3104610 C T 418.78 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=45.84;MQ0=1;OQ=2220.73;QD=38.96;SB=-760.52 GT:AD:DP:GL:GQ 1/1:0,57:55:-225.67,-16.57,-0.01:99 -chr1 1297501 rs2649597 T C 2.48 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=25.11;MQ0=4;OQ=360.28;QD=22.52;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,16:12:-39.62,-3.62,-0.01:36.08 -chr1 1298491 rs2477775 A G 32.28 LowQual AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=16.14;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,2:2:-6.64,-0.60,-0.00:6.02 -chr1 1298734 rs2649595 A T 1.65 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=25.11;MQ0=1;OQ=88.08;QD=22.02;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,4:3:-12.30,-0.90,-0.00:9.03 -chr1 1300531 rs2242398 A C 250.70 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=40.82;MQ0=0;OQ=470.94;QD=31.40;SB=-111.01 GT:AD:DP:GL:GQ 1/1:0,15:15:-50.69,-4.52,-0.01:45.12 -chr1 1300838 rs2649594 C T 51.73 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=23.25;MQ0=5;OQ=315.14;QD=22.51;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,14:9:-35.10,-2.71,-0.01:27.08 -chr1 1300941 rs2649592 G T 12.43 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=22.29;MQ0=5;OQ=256.28;QD=18.31;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,14:8:-29.21,-2.41,-0.00:24.07 -chr1 1302674 rs34582295 C T 6.04 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=2;HaplotypeScore=3.06;MQ=25.59;MQ0=11;OQ=374.66;QD=16.29;SB=-144.64 GT:AD:DP:GL:GQ 1/1:0,23:11:-41.06,-3.32,-0.01:33.10 -chr1 1303447 rs11489820 G C 2.99 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=7.53;MQ0=41;OQ=125.53;QD=2.73;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,46:4:-16.09,-1.21,-0.00:12.04 -chr1 1304035 rs2477777 C T 175.22 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=34.74;MQ0=4;OQ=578.49;QD=28.92;SB=-248.33 GT:AD:DP:GL:GQ 1/1:0,20:15:-61.44,-4.52,-0.00:45.15 -chr1 1304333 rs2313135 T G 34.29 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=18.98;MQ0=4;QD=4.90;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,2:3:-7.61,-0.90,-3.34:24.36 -chr1 1304907 rs2368566 G A 186.02 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=25.16;MQ0=0;OQ=83.01;QD=27.67;SB=-45.55 GT:AD:DP:GL:GQ 1/1:0,3:3:-11.79,-0.90,-0.00:9.03 -chr1 1305206 rs2368565 G A 178.76 PASS AC=2;AF=1.00;AN=2;DB;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=123.88;QD=30.97;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,4:4:-15.92,-1.20,-0.00:12.04 -chr1 1305756 rs2454652 C T 47.02 LowQual AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=23.51;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,2:2:-8.11,-0.60,-0.00:6.02 -chr1 1306033 rs2649587 G A 6.56 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=34.70;MQ0=1;OQ=503.12;QD=31.45;SB=-129.67 GT:AD:DP:GL:GQ 1/1:0,16:14:-53.90,-4.22,-0.01:42.13 -chr1 1306331 rs2649586 A G 0.26 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=29.00;MQ0=0;OQ=293.94;QD=24.50;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,11:10:-32.98,-3.01,-0.01:30.07 -chr1 1307502 . C G 13.29 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=4.50;MQ0=24;QD=0.49;SB=-10.00 GT:AD:DP:GL:GQ 0/1:26,1:1:-4.59,-0.30,-0.00:1.76 -chr1 1307925 . G C 0.13 PASS AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=13.45;MQ0=29;OQ=83.85;QD=1.78;SB=-0.97 GT:AD:DP:GL:GQ 0/1:38,9:8:-14.08,-2.41,-22.17:99 -chr1 1307979 . T C 42.83 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;HRun=1;HaplotypeScore=2.20;MQ=7.67;MQ0=16;QD=2.38;SB=-10.00 GT:AD:DP:GL:GQ 1/1:13,5:2:-7.69,-0.60,-0.00:6.02 -chr1 1308095 . C G 10.99 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=29;Dels=0.17;HRun=1;HaplotypeScore=14.74;MQ=6.41;MQ0=25;QD=0.38;SB=-10.00 GT:AD:DP:GL:GQ 0/1:20,4:1:-4.35,-0.30,-0.00:1.76 -chr1 1321841 . G T 47.94 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=20;HaplotypeScore=6.03;MQ=23.98;MQ0=9;QD=1.65;SB=-0.97 GT:AD:DP:GL:GQ 0/1:18,11:6:-9.89,-1.81,-11.27:80.77 -chr1 1323299 rs1240743 C A 6.63 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.08;MQ=38.33;MQ0=6;OQ=144.07;QD=3.27;SB=50.03 GT:AD:DP:GL:GQ 0/1:30,14:36:-28.54,-10.85,-84.17:99 -chr1 1332475 rs2275915 G C 24.94 PASS AC=1;AF=0.50;AN=2;DB;DP=16;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=31.54;MQ0=6;OQ=92.26;QD=5.77;SB=-43.44 GT:AD:DP:GL:GQ 0/1:8,8:10:-15.53,-3.02,-24.58:99 -chr1 1346911 . G A 0.08 PASS AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=8.57;MQ=40.33;MQ0=2;OQ=331.50;QD=8.72;SB=-7.00 GT:AD:DP:GL:GQ 0/1:22,16:33:-46.38,-9.94,-72.87:99 -chr1 1349702 . C A 0.66 PASS AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=1;HaplotypeScore=5.78;MQ=19.45;MQ0=7;OQ=297.18;QD=9.29;SB=-141.76 GT:AD:DP:GL:GQ 0/1:14,17:13:-36.92,-3.92,-7.86:39.43 -chr1 1352746 rs58304223 G C 14.25 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=14.25;SB=-10.00 GT:AD:DP:GL:GQ 0/1:0,1:1:-4.69,-0.30,-0.00:1.76 -chr1 1353363 . G T 42.81 LowQual AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=37.00;MQ0=0;QD=21.40;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,2:2:-7.69,-0.60,-0.00:6.02 -chr1 1355197 rs1781138 A G 15.22 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=39.89;MQ0=3;OQ=305.23;QD=16.96;SB=-38.95 GT:AD:DP:GL:GQ 1/1:0,18:10:-34.11,-3.01,-0.00:30.08 -chr1 1358462 rs1240703 A C 0.99 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=21.92;MQ0=3;OQ=100.91;QD=14.42;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,7:4:-13.63,-1.21,-0.00:12.03 -chr1 1358648 . C G 24.94 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=3;HaplotypeScore=2.70;MQ=19.30;MQ0=6;QD=1.19;SB=5.05 GT:AD:DP:GL:GQ 0/1:13,8:7:-7.89,-2.11,-21.96:57.76 -chr1 1377530 rs1781144 C G 16.31 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=20.51;MQ0=10;OQ=394.74;QD=19.74;SB=-103.85 GT:AD:DP:GL:GQ 1/1:0,20:10:-43.06,-3.01,-0.00:30.10 -chr1 1380491 . G A 10.40 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=6;HaplotypeScore=29.42;MQ=36.22;MQ0=8;QD=0.18;SB=26.07 GT:AD:DP:GL:GQ 0/1:33,26:17:-9.41,-5.13,-45.72:42.82 -chr1 1390605 rs1240723 T C 30.71 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=3.36;MQ=30.70;MQ0=2;OQ=239.92;QD=7.06;SB=-41.82 GT:AD:DP:GL:GQ 0/1:20,14:26:-35.12,-7.84,-56.30:99 -chr1 1390829 . C T 33.01 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=33;Dels=0.00;HRun=3;HaplotypeScore=8.88;MQ=28.73;MQ0=9;QD=1.00;SB=26.10 GT:AD:DP:GL:GQ 0/1:27,6:18:-12.01,-5.42,-52.81:65.84 -chr1 1394381 . T G 40.77 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=20.66;MQ0=17;QD=0.91;SB=-10.00 GT:AD:DP:GL:GQ 0/1:31,13:12:-10.98,-3.61,-30.75:73.61 -chr1 1398226 . C T 36.49 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=10.21;MQ0=21;QD=1.46;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,13:3:-7.84,-0.90,-3.10:21.92 -chr1 1410500 rs35871802 C T 116.85 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=20.49;MQ0=17;OQ=181.39;QD=6.05;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,18:11:-24.74,-3.31,-17.34:99 -chr1 1413144 . G A 12.73 PASS AC=1;AF=0.50;AN=2;DP=33;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=22.29;MQ0=2;OQ=489.12;QD=14.82;SB=-131.14 GT:AD:DP:GL:GQ 0/1:17,16:30:-61.25,-9.05,-41.87:99 -chr1 1414249 . G C 31.95 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=2;HaplotypeScore=6.60;MQ=15.28;MQ0=13;QD=1.33;SB=-10.00 GT:AD:DP:GL:GQ 0/1:18,6:4:-7.69,-1.21,-7.60:63.89 -chr1 1423959 rs1781141 T G 30.05 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=21.23;MQ0=4;QD=1.58;SB=5.04 GT:AD:DP:GL:GQ 0/1:13,6:14:-10.50,-4.22,-40.36:62.88 -chr1 1424829 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=20;HaplotypeScore=5.78;MQ=28.83;MQ0=9;OQ=77.31;QD=1.98;SB=59.13 GT:AD:DP:GL:GQ 0/1:32,7:28:-19.45,-8.44,-75.28:99 -chr1 1424855 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=28;Dels=0.00;HRun=20;HaplotypeScore=4.13;MQ=29.08;MQ0=4;OQ=54.78;QD=1.96;SB=29.12 GT:AD:DP:GL:GQ 0/1:21,7:17:-13.88,-5.12,-48.25:87.62 -chr1 1425922 rs28755011 C T 122.75 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=53.56;MQ0=1;OQ=756.68;QD=16.45;SB=-222.92 GT:AD:DP:GL:GQ 0/1:21,25:43:-91.92,-12.96,-62.88:99 -chr1 1430132 rs3104609 A G 485.47 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=42.69;MQ0=1;OQ=1088.71;QD=31.11;SB=-534.36 GT:AD:DP:GL:GQ 1/1:0,35:33:-112.47,-9.94,-0.02:99 -chr1 1447936 rs3118507 A G 40.78 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=47.98;MQ0=0;OQ=209.16;QD=6.97;SB=-124.72 GT:AD:DP:GL:GQ 0/1:20,10:26:-32.03,-7.83,-67.04:99 -chr1 1450120 rs6603789 G C 0.59 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=28.41;MQ0=9;OQ=784.91;QD=23.09;SB=-55.93 GT:AD:DP:GL:GQ 1/1:6,28:20:-82.08,-6.03,-0.01:60.20 -chr1 1450953 rs3128345 A G 6.78 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=8.00;MQ=58.21;MQ0=0;OQ=533.48;QD=10.67;SB=-234.27 GT:AD:DP:GL:GQ 0/1:28,22:48:-71.10,-14.47,-106.23:99 -chr1 1457784 . T A 85.12 PASS AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.74;MQ0=0;OQ=950.58;QD=15.09;SB=-335.63 GT:AD:DP:GL:GQ 0/1:32,31:63:-117.32,-18.98,-122.45:99 -chr1 1458041 rs6694994 T C 138.18 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=49.26;MQ0=0;OQ=499.68;QD=12.19;SB=-117.64 GT:AD:DP:GL:GQ 0/1:20,21:38:-64.71,-11.46,-68.00:99 -chr1 1459409 rs3128344 G A 558.61 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=45.45;MQ0=0;OQ=1638.56;QD=37.24;SB=-778.68 GT:AD:DP:GL:GQ 1/1:0,43:42:-167.45,-12.65,-0.01:99 -chr1 1461502 . A C 42.07 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=2;HaplotypeScore=1.74;MQ=57.05;MQ0=0;QD=2.63;SB=14.06 GT:AD:DP:GL:GQ 0/1:8,8:12:-11.11,-3.62,-27.42:74.90 -chr1 1461910 rs3118505 C T 45.13 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=4.75;MQ=58.35;MQ0=0;OQ=649.92;QD=17.57;SB=-339.91 GT:AD:DP:GL:GQ 0/1:17,20:34:-78.52,-10.25,-48.35:99 -chr1 1462403 rs1571148 T G 289.59 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=414.06;QD=9.41;SB=-126.87 GT:AD:DP:GL:GQ 0/1:27,17:41:-57.04,-12.35,-89.89:99 -chr1 1462736 rs4259576 T A 334.86 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.42;MQ=60.00;MQ0=0;OQ=380.45;QD=11.19;SB=-195.57 GT:AD:DP:GL:GQ 0/1:20,14:33:-51.27,-9.94,-69.97:99 -chr1 1464030 rs1571149 A G 400.49 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=60.00;MQ0=0;OQ=649.88;QD=11.01;SB=-311.08 GT:AD:DP:GL:GQ 0/1:30,29:55:-84.85,-16.58,-112.84:99 -chr1 1464167 rs1571150 C A 91.13 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.52;MQ0=0;OQ=665.06;QD=17.05;SB=-221.93 GT:AD:DP:GL:GQ 0/1:16,23:39:-81.54,-11.75,-55.47:99 -chr1 1464327 rs56239289 T C 341.41 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=60.00;MQ0=0;OQ=731.44;QD=11.99;SB=-372.97 GT:AD:DP:GL:GQ 0/1:31,30:58:-93.91,-17.48,-117.75:99 -chr1 1464734 rs9439465 G C 86.71 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=410.54;QD=15.21;SB=-187.22 GT:AD:DP:GL:GQ 0/1:13,14:25:-51.89,-7.55,-46.69:99 -chr1 1468557 rs55694463 C G 72.40 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.11;MQ0=0;OQ=367.44;QD=14.13;SB=-116.67 GT:AD:DP:GL:GQ 0/1:13,13:22:-46.66,-6.63,-46.00:99 -chr1 1468920 rs61777888 A T 11.23 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=40.58;MQ0=0;QD=1.12;SB=2.00 GT:AD:DP:GL:GQ 0/1:8,2:6:-6.19,-1.81,-11.86:43.73 -chr1 1471211 rs3766177 T C 144.43 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.26;MQ=59.42;MQ0=0;OQ=424.79;QD=8.50;SB=-61.74 GT:AD:DP:GL:GQ 0/1:28,22:46:-59.63,-13.86,-111.57:99 -chr1 1472873 rs7517401 G A 289.79 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=3.75;MQ=59.55;MQ0=0;OQ=742.89;QD=14.57;SB=-367.87 GT:AD:DP:GL:GQ 0/1:27,24:48:-92.05,-14.47,-78.97:99 -chr1 1474833 rs7515814 C G 227.61 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.23;MQ0=0;OQ=1418.95;QD=20.87;SB=-692.35 GT:AD:DP:GL:GQ 0/1:30,38:67:-165.38,-20.20,-121.41:99 -chr1 1476697 rs3128342 C A 175.56 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=1.77;MQ=59.37;MQ0=0;OQ=1038.77;QD=15.74;SB=-518.96 GT:AD:DP:GL:GQ 0/1:32,34:66:-127.04,-19.88,-111.54:99 -chr1 1478935 rs3930748 A G 131.03 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=57.35;MQ0=0;OQ=678.62;QD=14.44;SB=-210.49 GT:AD:DP:GL:GQ 0/1:18,29:41:-83.51,-12.36,-58.93:99 -chr1 1479484 rs11590038 T C 187.36 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=3.28;MQ=60.00;MQ0=0;OQ=498.05;QD=12.45;SB=-267.61 GT:AD:DP:GL:GQ 0/1:17,23:38:-64.56,-11.47,-62.93:99 -chr1 1479489 rs11588893 C T 162.61 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=60.00;MQ0=0;OQ=580.48;QD=15.69;SB=-263.76 GT:AD:DP:GL:GQ 0/1:17,20:34:-71.58,-10.25,-50.12:99 -chr1 1479533 rs7531530 C T 220.27 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.91;MQ=59.18;MQ0=1;OQ=444.32;QD=12.01;SB=-149.64 GT:AD:DP:GL:GQ 0/1:19,18:31:-57.07,-9.35,-49.87:99 -chr1 1479791 rs7366884 T C 122.14 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=59.38;MQ0=0;OQ=816.32;QD=13.61;SB=-418.23 GT:AD:DP:GL:GQ 0/1:30,30:57:-102.08,-17.17,-116.37:99 -chr1 1479937 rs7366635 A G 20.12 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=2.12;MQ=59.07;MQ0=0;OQ=292.89;QD=6.51;SB=-136.53 GT:AD:DP:GL:GQ 0/1:30,15:42:-45.23,-12.66,-112.08:99 -chr1 1480024 rs3753332 A G 36.05 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=1.31;MQ=59.44;MQ0=0;OQ=490.38;QD=11.96;SB=-170.97 GT:AD:DP:GL:GQ 0/1:21,20:37:-63.47,-11.15,-78.00:99 -chr1 1480095 rs3753331 T C 462.82 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.64;MQ0=0;OQ=783.79;QD=15.07;SB=-339.35 GT:AD:DP:GL:GQ 0/1:24,28:51:-97.03,-15.37,-89.70:99 -chr1 1480422 rs3820075 A G 268.84 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.65;MQ0=0;OQ=768.88;QD=14.24;SB=-360.10 GT:AD:DP:GL:GQ 0/1:23,31:53:-96.15,-15.98,-92.13:99 -chr1 1480490 rs3753330 T A 237.50 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.22;MQ0=0;OQ=615.93;QD=11.41;SB=-300.65 GT:AD:DP:GL:GQ 0/1:28,26:50:-79.94,-15.07,-101.11:99 -chr1 1480556 . C T 26.64 PASS AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=1;HaplotypeScore=1.18;MQ=59.59;MQ0=0;OQ=854.85;QD=18.58;SB=-376.92 GT:AD:DP:GL:GQ 0/1:20,26:44:-102.04,-13.27,-56.58:99 -chr1 1481114 rs12048706 T C 201.19 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=57.91;MQ0=0;OQ=878.58;QD=11.87;SB=-292.17 GT:AD:DP:GL:GQ 0/1:36,38:70:-112.24,-21.10,-138.24:99 -chr1 1484218 rs3118509 T C 19.29 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=1926.74;QD=28.76;SB=-881.49 GT:AD:DP:GL:GQ 1/1:0,67:60:-196.31,-18.09,-0.05:99 -chr1 1484946 rs6667347 G C 188.55 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=59.64;MQ0=0;OQ=1104.15;QD=17.25;SB=-384.86 GT:AD:DP:GL:GQ 0/1:33,31:63:-132.69,-18.99,-142.09:99 -chr1 1485056 rs3118508 A G 123.40 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=59.54;MQ0=0;OQ=1673.18;QD=28.36;SB=-768.59 GT:AD:DP:GL:GQ 1/1:0,59:54:-170.96,-16.29,-0.05:99 -chr1 1486871 rs3766170 T C 6.17 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=4;HaplotypeScore=1.66;MQ=57.15;MQ0=0;OQ=440.82;QD=8.82;SB=-192.43 GT:AD:DP:GL:GQ 0/1:28,22:46:-61.23,-13.87,-105.72:99 -chr1 1488802 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=20;HaplotypeScore=27.79;MQ=52.29;MQ0=1;OQ=57.57;QD=0.82;SB=89.30 GT:AD:DP:GL:GQ 0/1:49,20:48:-23.51,-14.47,-151.88:90.40 -chr1 1489161 rs9439468 A G 111.48 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=2.15;MQ=56.25;MQ0=0;OQ=911.03;QD=16.56;SB=-250.50 GT:AD:DP:GL:GQ 0/1:21,34:50:-109.45,-15.06,-75.57:99 -chr1 1490804 rs6603791 A G 440.61 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=55.41;MQ0=0;OQ=778.85;QD=12.98;SB=-348.06 GT:AD:DP:GL:GQ 0/1:28,32:58:-98.65,-17.48,-110.76:99 -chr1 1490867 . C G 0.31 PASS AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=53.32;MQ0=0;OQ=206.00;QD=2.71;SB=-32.07 GT:AD:DP:GL:GQ 0/1:64,12:75:-46.49,-22.61,-271.24:99 -chr1 1490871 . A G 0.08 PASS AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=1;HaplotypeScore=1.61;MQ=53.82;MQ0=0;OQ=220.05;QD=2.75;SB=-14.75 GT:AD:DP:GL:GQ 0/1:66,14:78:-48.79,-23.50,-263.73:99 -chr1 1490927 rs6656541 T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=3;HaplotypeScore=23.59;MQ=53.32;MQ0=0;OQ=1558.39;QD=20.51;SB=-788.78 GT:AD:DP:GL:GQ 0/1:23,53:74:-181.42,-22.29,-76.04:99 -chr1 1490930 rs12730242 C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=22.45;MQ=53.65;MQ0=0;OQ=417.53;QD=5.49;SB=-224.35 GT:AD:DP:GL:GQ 0/1:55,21:70:-66.13,-21.09,-238.86:99 -chr1 1490948 rs12742689 T C 0.19 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.65;MQ=53.98;MQ0=0;OQ=96.30;QD=1.23;SB=-34.35 GT:AD:DP:GL:GQ 0/1:66,12:72:-34.61,-21.70,-240.60:99 -chr1 1490950 rs12730248 C T 0.53 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=2.65;MQ=54.06;MQ0=0;OQ=172.01;QD=2.18;SB=-98.81 GT:AD:DP:GL:GQ 0/1:67,11:73:-45.59,-25.10,-225.19:99 -chr1 1491329 rs7543799 G A 29 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=5.33;MQ=58.37;MQ0=0;OQ=592.32;QD=13.16;SB=-320.34 GT:AD:DP:GL:GQ 0/1:24,21:38:-73.97,-11.45,-67.99:99 -chr1 1492958 rs7367692 G A 226.72 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.69;MQ=59.16;MQ0=0;OQ=759.07;QD=13.80;SB=-311.80 GT:AD:DP:GL:GQ 0/1:31,24:51:-94.56,-15.37,-89.99:99 -chr1 1492962 rs7364711 A C 163.84 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=1.69;MQ=59.20;MQ0=0;OQ=581.10;QD=10.02;SB=-270.86 GT:AD:DP:GL:GQ 0/1:35,23:56:-78.26,-16.87,-122.50:99 -chr1 1493671 rs11578409 C G 251.66 PASS AC=1;AF=0.50;AN=2;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=59.04;MQ0=0;OQ=1371.84;QD=13.45;SB=-443.87 GT:AD:DP:GL:GQ 0/1:57,45:96:-169.40,-28.93,-244.12:99 -chr1 1493791 rs7550471 G A 6.65 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=5.83;MQ=58.91;MQ0=0;OQ=1272.31;QD=21.21;SB=-593.09 GT:AD:DP:GL:GQ 0/1:20,38:56:-150.16,-19.64,-65.04:99 -chr1 1494423 rs7552586 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=6;HaplotypeScore=3.99;MQ=59.04;MQ0=0;OQ=1025.73;QD=12.36;SB=-469.22 GT:AD:DP:GL:GQ 0/1:45,38:80:-129.96,-24.11,-158.72:99 -chr1 1494904 rs6603792 T C 342.81 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.57;MQ0=0;OQ=427.21;QD=9.94;SB=-158.94 GT:AD:DP:GL:GQ 0/1:24,19:43:-58.97,-12.96,-97.93:99 -chr1 1495118 rs6603793 C T 185.94 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=2;HaplotypeScore=0.67;MQ=59.74;MQ0=0;OQ=1162.21;QD=15.92;SB=-407.71 GT:AD:DP:GL:GQ 0/1:38,35:73:-141.49,-21.99,-140.54:99 -chr1 1495830 rs7548959 C T 131.47 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=3.07;MQ=58.74;MQ0=0;OQ=1025.47;QD=14.65;SB=-444.99 GT:AD:DP:GL:GQ 0/1:38,32:69:-126.64,-20.81,-114.78:99 -chr1 1495898 rs7540231 G A 67.32 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.00;HRun=2;HaplotypeScore=1.75;MQ=58.44;MQ0=0;OQ=3508.72;QD=37.73;SB=-1621.33 GT:AD:DP:GL:GQ 1/1:0,92:90:-349.87,-27.12,-0.03:99 -chr1 1497229 rs9439469 G A 187.99 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.17;MQ0=0;OQ=210.39;QD=8.42;SB=-10.00 GT:AD:DP:GL:GQ 0/1:17,8:25:-31.85,-7.53,-57.26:99 -chr1 1497775 rs61774865 A C 52.62 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=53.97;MQ0=0;OQ=260.15;QD=7.88;SB=-10.00 GT:AD:DP:GL:GQ 0/1:20,13:31:-38.64,-9.34,-70.58:99 -chr1 1498322 rs9439473 A G 18.83 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=3.82;MQ=56.11;MQ0=0;OQ=610.76;QD=13.57;SB=-249.32 GT:AD:DP:GL:GQ 0/1:21,24:44:-77.63,-13.27,-79.03:99 -chr1 1498506 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=5;HaplotypeScore=2.45;MQ=50.85;MQ0=0;OQ=161.89;QD=3.37;SB=24.24 GT:AD:DP:GL:GQ 0/1:38,10:40:-31.52,-12.05,-112.23:99 -chr1 1498508 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=15;HaplotypeScore=1.82;MQ=51.05;MQ0=0;OQ=196.72;QD=4.01;SB=27.81 GT:AD:DP:GL:GQ 0/1:38,11:41:-35.31,-12.36,-104.62:99 -chr1 1498897 rs7520996 T C 291.45 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=56.74;MQ0=0;OQ=1344.56;QD=17.46;SB=-662.63 GT:AD:DP:GL:GQ 0/1:31,46:75:-160.33,-22.59,-123.58:99 -chr1 1499019 rs7518083 A G 453.47 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.97;MQ0=0;OQ=1144.84;QD=14.49;SB=-308.25 GT:AD:DP:GL:GQ 0/1:39,40:76:-140.66,-22.89,-155.49:99 -chr1 1499688 rs6666293 A G 47.16 LowQual AC=1;AF=0.50;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=1.90;MQ=53.03;MQ0=0;QD=6.74;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,3:5:-9.51,-1.51,-8.01:65.07 -chr1 1500664 rs7519837 C T 335.96 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=543.75;QD=13.59;SB=-294.78 GT:AD:DP:GL:GQ 0/1:21,19:39:-69.41,-11.75,-74.55:99 -chr1 1500967 rs7556282 G C 209.02 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=56.81;MQ0=0;OQ=874.72;QD=17.85;SB=-362.79 GT:AD:DP:GL:GQ 0/1:21,27:44:-104.04,-13.28,-69.73:99 -chr1 1501107 rs4590622 G A 74.70 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=35.43;MQ0=2;OQ=406.87;QD=8.30;SB=-78.55 GT:AD:DP:GL:GQ 0/1:30,19:38:-55.43,-11.46,-75.84:99 -chr1 1501178 rs4618908 T C 437.65 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=43.31;MQ0=1;OQ=645.96;QD=14.68;SB=-291.48 GT:AD:DP:GL:GQ 0/1:19,25:40:-79.93,-12.05,-65.32:99 -chr1 1504046 . C T 7.57 PASS AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=59.17;MQ0=0;OQ=1022.24;QD=18.25;SB=-279.21 GT:AD:DP:GL:GQ 0/1:26,30:52:-121.18,-15.67,-71.09:99 -chr1 1504960 rs9331751 T A 36.07 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=4.88;MQ=56.51;MQ0=1;OQ=1100.76;QD=14.11;SB=-360.40 GT:AD:DP:GL:GQ 0/1:39,39:73:-135.35,-21.99,-132.17:99 -chr1 1506133 rs9442407 C T 139.40 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=35.12;MQ0=12;OQ=825.82;QD=11.16;SB=-394.16 GT:AD:DP:GL:GQ 0/1:42,32:54:-102.14,-16.28,-92.88:99 -chr1 1509564 rs9442406 T C 136.95 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=1.76;MQ=56.80;MQ0=0;OQ=711.41;QD=13.42;SB=-198.20 GT:AD:DP:GL:GQ 0/1:27,26:51:-89.79,-15.37,-103.56:99 -chr1 1510588 rs28788874 C T 634.33 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.10;MQ0=1;OQ=2154.00;QD=35.90;SB=-1071.35 GT:AD:DP:GL:GQ 1/1:0,60:56:-219.01,-16.88,-0.03:99 -chr1 1510832 rs6666084 A G 27.92 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=29.16;MQ0=1;OQ=863.94;QD=22.15;SB=-357.32 GT:AD:DP:GL:GQ 1/1:0,34:29:-93.05,-11.63,-3.07:85.61 -chr1 1511143 rs6679999 C T 270.78 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=46.32;MQ0=0;OQ=967.03;QD=37.19;SB=-287.88 GT:AD:DP:GL:GQ 1/1:0,26:25:-100.30,-7.53,-0.01:75.24 -chr1 1511216 . T A 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=40.83;MQ0=0;OQ=921.95;QD=25.61;SB=-124.48 GT:AD:DP:GL:GQ 0/1:7,29:35:-106.02,-10.55,-27.02:99 -chr1 1511668 rs4648786 A G 87.12 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=58.14;MQ0=0;OQ=1843.13;QD=31.78;SB=-498.18 GT:AD:DP:GL:GQ 1/1:0,58:57:-187.94,-17.18,-0.05:99 -chr1 1511869 rs4648787 C T 29.58 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=3.56;MQ=56.20;MQ0=1;OQ=2155.57;QD=37.82;SB=-1079.94 GT:AD:DP:GL:GQ 1/1:1,56:55:-219.17,-16.58,-0.02:99 -chr1 1511922 rs4648612 C T 25.92 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=42.53;MQ0=1;OQ=1102.46;QD=35.56;SB=-299.68 GT:AD:DP:GL:GQ 1/1:1,30:28:-113.84,-8.43,-0.01:84.28 -chr1 1512199 rs4648613 T C 554.79 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.33;MQ0=0;OQ=1584.81;QD=33.02;SB=-688.28 GT:AD:DP:GL:GQ 1/1:0,48:45:-162.08,-13.55,-0.01:99 -chr1 1512230 rs28809773 G A 465.17 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=52.87;MQ0=0;OQ=1755.99;QD=36.58;SB=-748.51 GT:AD:DP:GL:GQ 1/1:0,48:45:-179.20,-13.56,-0.01:99 -chr1 1512325 . G A 85.65 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=55.47;MQ0=0;OQ=776.49;QD=14.65;SB=-378.86 GT:AD:DP:GL:GQ 0/1:28,24:51:-96.30,-15.37,-89.39:99 -chr1 1512595 rs4366263 A G 19.23 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=3.13;MQ=56.40;MQ0=0;OQ=1310.46;QD=34.49;SB=-610.36 GT:AD:DP:GL:GQ 1/1:0,38:38:-134.64,-11.45,-0.01:99 -chr1 1512656 rs28778974 C T 131.47 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=49.50;MQ0=1;OQ=1426.66;QD=34.80;SB=-730.49 GT:AD:DP:GL:GQ 1/1:1,40:37:-146.26,-11.15,-0.01:99 -chr1 1512790 rs61774869 C T 40.58 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=48.67;MQ0=1;OQ=1682.46;QD=36.58;SB=-840.63 GT:AD:DP:GL:GQ 1/1:2,44:43:-171.84,-12.95,-0.01:99 -chr1 1513302 rs9725077 G A 148.03 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=48.17;MQ0=1;OQ=1464.10;QD=34.05;SB=-687.33 GT:AD:DP:GL:GQ 1/1:1,42:38:-150.01,-11.45,-0.01:99 -chr1 1514300 rs9442423 T C 34.69 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.59;MQ0=0;OQ=266.23;QD=6.83;SB=-0.97 GT:AD:DP:GL:GQ 0/1:24,15:34:-40.16,-10.25,-85.89:99 -chr1 1514394 . C T 901.86 Indel AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.65;MQ0=0;QD=14.78;SB=-128.11 GT:AD:DP:GL:GQ 0/1:33,28:59:-111.26,-17.79,-98.57:99 -chr1 1514734 rs9442403 A G 0.24 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=12.23;MQ=53.49;MQ0=0;OQ=367.70;QD=7.99;SB=-54.31 GT:AD:DP:GL:GQ 0/1:25,19:37:-51.21,-11.16,-85.57:99 -chr1 1514861 . A T 164.64 PASS AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=58.34;MQ0=0;OQ=646.82;QD=13.76;SB=-331.07 GT:AD:DP:GL:GQ 0/1:25,22:46:-81.82,-13.86,-91.60:99 -chr1 1515925 rs6681422 T C 152.90 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=2.60;MQ=56.53;MQ0=0;OQ=534.97;QD=11.15;SB=-174.52 GT:AD:DP:GL:GQ 0/1:23,25:43:-69.74,-12.96,-84.05:99 -chr1 1516662 rs12735276 A G 21.98 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=2.05;MQ=57.32;MQ0=1;OQ=2133.75;QD=30.05;SB=-1092.47 GT:AD:DP:GL:GQ 1/1:2,69:66:-217.02,-19.91,-0.06:99 -chr1 1516946 rs10157140 T C 503.19 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.65;MQ0=0;OQ=1116.09;QD=14.69;SB=-475.23 GT:AD:DP:GL:GQ 0/1:37,39:76:-137.79,-22.90,-145.96:99 -chr1 1517815 . T C 151.98 PASS AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=58.19;MQ0=0;OQ=718.93;QD=11.41;SB=-330.87 GT:AD:DP:GL:GQ 0/1:32,31:61:-93.57,-18.39,-126.83:99 -chr1 1518089 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=69;Dels=0.01;HRun=19;HaplotypeScore=19.37;MQ=53.15;MQ0=1;OQ=397.54;QD=5.76;SB=50.30 GT:AD:DP:GL:GQ 0/1:45,23:60:-60.81,-17.78,-147.22:99 -chr1 1518109 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=82;Dels=0.01;HRun=19;HaplotypeScore=9.39;MQ=51.76;MQ0=1;OQ=216.06;QD=2.63;SB=62.19 GT:AD:DP:GL:GQ 0/1:54,27:58:-42.07,-17.18,-142.92:99 -chr1 1518112 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=77;Dels=0.01;HRun=4;HaplotypeScore=9.55;MQ=51.62;MQ0=1;OQ=92.02;QD=1.20;SB=65.18 GT:AD:DP:GL:GQ 0/1:56,20:51:-27.56,-15.07,-144.06:99 -chr1 1518863 rs12725297 G C 139.44 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=58.84;MQ0=0;OQ=1568.02;QD=18.67;SB=-365.83 GT:AD:DP:GL:GQ 0/1:39,45:81:-184.49,-24.41,-167.76:99 -chr1 1518975 rs12725449 G C 178.35 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=58.97;MQ0=0;OQ=2276.77;QD=38.59;SB=-1002.01 GT:AD:DP:GL:GQ 1/1:0,59:56:-231.29,-16.89,-0.03:99 -chr1 1519320 rs28566709 T C 64.56 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=4.25;MQ=59.59;MQ0=0;OQ=477.78;QD=8.53;SB=-190.61 GT:AD:DP:GL:GQ 0/1:33,23:51:-66.44,-15.38,-114.90:99 -chr1 1519374 rs28662991 T C 77.77 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=0.97;MQ=59.56;MQ0=0;OQ=635.95;QD=12.23;SB=-285.60 GT:AD:DP:GL:GQ 0/1:29,23:51:-82.25,-15.37,-108.55:99 -chr1 1519813 rs28503881 A G 211.45 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=58.02;MQ0=0;OQ=531.98;QD=8.58;SB=-234.91 GT:AD:DP:GL:GQ 0/1:35,27:58:-73.97,-17.49,-134.84:99 -chr1 1519842 rs4648788 T C 59.76 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.96;MQ=56.83;MQ0=0;OQ=1829.71;QD=27.72;SB=-554.05 GT:AD:DP:GL:GQ 1/1:0,66:57:-186.60,-17.18,-0.04:99 -chr1 1519857 . G C 3.15 PASS AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=1;HaplotypeScore=5.53;MQ=56.98;MQ0=0;OQ=985.46;QD=15.64;SB=-338.06 GT:AD:DP:GL:GQ 0/1:28,35:57:-119.03,-17.20,-116.72:99 -chr1 1519861 rs28689700 C G 213.40 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=56.88;MQ0=0;OQ=841.97;QD=13.80;SB=-287.94 GT:AD:DP:GL:GQ 0/1:30,31:57:-104.69,-17.21,-125.41:99 -chr1 1520060 rs4648789 A C 15.22 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=4;HaplotypeScore=1.27;MQ=50.71;MQ0=0;OQ=838.47;QD=14.46;SB=-329.82 GT:AD:DP:GL:GQ 0/1:26,32:54:-103.41,-16.28,-79.25:99 -chr1 1520063 rs4648790 C T 336.83 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=51.65;MQ0=0;OQ=926.60;QD=15.19;SB=-418.36 GT:AD:DP:GL:GQ 0/1:30,31:60:-114.03,-18.08,-107.59:99 -chr1 1520195 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=113;Dels=0.02;HRun=0;HaplotypeScore=46.04;MQ=50.13;MQ0=3;OQ=55.61;QD=0.49;SB=110.40 GT:AD:DP:GL:GQ 0/1:96,14:92:-36.27,-27.42,-356.52:88.45 -chr1 1520222 . G A 94.09 SnpCluster AC=1;AF=0.50;AN=2;DP=117;Dels=0.00;HRun=0;HaplotypeScore=77.51;MQ=46.35;MQ0=0;QD=0.80;SB=-48.89 GT:AD:DP:GL:GQ 0/1:102,15:106:-44.62,-31.93,-348.40:99 -chr1 1520225 . G C 344.68 SnpCluster AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=0;HaplotypeScore=69.75;MQ=44.94;MQ0=0;QD=2.92;SB=-153.13 GT:AD:DP:GL:GQ 0/1:100,18:110:-70.90,-33.15,-412.65:99 -chr1 1520229 . C G 412.05 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=121;Dels=0.00;HRun=0;HaplotypeScore=94.26;MQ=43.35;MQ0=0;QD=3.41;SB=-151.44 GT:AD:DP:GL:GQ 0/1:103,18:106:-76.44,-31.95,-372.75:99 -chr1 1520237 . G C 91.10 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=128;Dels=0.05;HRun=0;HaplotypeScore=131.86;MQ=42.98;MQ0=0;QD=0.71;SB=13.51 GT:AD:DP:GL:GQ 0/1:106,16:113:-45.55,-33.15,-430.26:99 -chr1 1520238 rs61774873 T A 718.56 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=125;Dels=0.05;HRun=0;HaplotypeScore=125.70;MQ=43.01;MQ0=0;QD=5.75;SB=-75.62 GT:AD:DP:GL:GQ 0/1:71,41:100:-122.71,-47.57,-247.49:99 -chr1 1520243 . C G 225.05 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=127;Dels=0.00;HRun=0;HaplotypeScore=118.32;MQ=42.36;MQ0=0;QD=1.77;SB=107.39 GT:AD:DP:GL:GQ 0/1:107,20:111:-59.26,-33.47,-404.28:99 -chr1 1520250 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=130;Dels=0.03;HRun=1;HaplotypeScore=70.65;MQ=43.20;MQ0=0;OQ=629.57;QD=4.84;SB=-297.59 GT:AD:DP:GL:GQ 0/1:85,37:107:-98.49,-32.25,-308.33:99 -chr1 1520281 rs61774874 G C 511.99 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=95.68;MQ=43.19;MQ0=0;QD=4.13;SB=-246.08 GT:AD:DP:GL:GQ 0/1:99,25:103:-85.52,-31.04,-362.79:99 -chr1 1520285 . G C 387.17 SnpCluster AC=1;AF=0.50;AN=2;DP=119;Dels=0.01;HRun=0;HaplotypeScore=65.61;MQ=43.42;MQ0=0;QD=3.25;SB=-155.15 GT:AD:DP:GL:GQ 0/1:98,20:100:-71.84,-29.84,-355.29:99 -chr1 1520289 rs62642589 C G 93.31 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=121;Dels=0.01;HRun=0;HaplotypeScore=35.98;MQ=43.17;MQ0=0;QD=0.77;SB=134.48 GT:AD:DP:GL:GQ 0/1:107,13:109:-45.17,-32.56,-411.19:99 -chr1 1520331 rs28654137 C G 48.96 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.01;HRun=0;HaplotypeScore=27.98;MQ=47.63;MQ0=0;QD=0.60;SB=18.43 GT:AD:DP:GL:GQ 0/1:72,9:75:-30.78,-22.60,-290.44:81.79 -chr1 1520344 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=73;Dels=0.01;HRun=0;HaplotypeScore=35.55;MQ=46.62;MQ0=0;OQ=147.13;QD=2.02;SB=-55.25 GT:AD:DP:GL:GQ 0/1:57,14:62:-36.39,-18.39,-179.58:99 -chr1 1520377 . C G 26.02 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=20.54;MQ=46.26;MQ0=1;QD=0.42;SB=59.22 GT:AD:DP:GL:GQ 0/1:52,10:48:-20.35,-14.47,-182.03:58.84 -chr1 1520381 rs28593368 C G 11.70 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=9.32;MQ=47.21;MQ0=1;QD=0.18;SB=37.38 GT:AD:DP:GL:GQ 0/1:58,8:56:-21.30,-16.87,-217.45:44.23 -chr1 1520469 rs11488585 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=100;Dels=0.01;HRun=0;HaplotypeScore=36.86;MQ=43.53;MQ0=4;OQ=2355.10;QD=23.55;SB=-1049.66 GT:AD:DP:GL:GQ 0/1:35,63:89:-265.31,-26.51,-115.33:99 -chr1 1520498 . G A 0.22 PASS AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=42.41;MQ0=4;OQ=313.12;QD=3.48;SB=-164.48 GT:AD:DP:GL:GQ 0/1:71,19:76:-57.51,-22.91,-206.14:99 -chr1 1520609 . G C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=107;Dels=0.00;HRun=0;HaplotypeScore=16.97;MQ=45.11;MQ0=1;OQ=1017.74;QD=9.51;SB=-327.71 GT:AD:DP:GL:GQ 0/1:72,34:94:-133.38,-28.32,-275.79:99 -chr1 1520627 . T C 0.10 PASS AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;HRun=0;HaplotypeScore=10.65;MQ=46.29;MQ0=2;OQ=3224.03;QD=30.42;SB=-1396.99 GT:AD:DP:GL:GQ 1/1:0,101:93:-329.81,-30.68,-3.83:99 -chr1 1520757 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=102;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=47.64;MQ0=6;OQ=89.81;QD=0.88;SB=110.39 GT:AD:DP:GL:GQ 0/1:91,11:89:-39.08,-26.81,-310.80:99 -chr1 1520774 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=99;Dels=0.01;HRun=0;HaplotypeScore=56.31;MQ=48.08;MQ0=6;OQ=62.24;QD=0.63;SB=110.34 GT:AD:DP:GL:GQ 0/1:89,9:83:-34.23,-24.72,-231.51:95.08 -chr1 1520787 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=96;Dels=0.04;HRun=0;HaplotypeScore=27.20;MQ=49.95;MQ0=4;OQ=173.92;QD=1.81;SB=77.51 GT:AD:DP:GL:GQ 0/1:78,14:87:-45.69,-25.01,-305.10:99 -chr1 1520821 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=37.97;MQ=51.43;MQ0=1;OQ=216.93;QD=2.55;SB=101.36 GT:AD:DP:GL:GQ 0/1:69,16:80:-49.07,-24.10,-269.00:99 -chr1 1520848 . G A 0.20 PASS AC=1;AF=0.50;AN=2;DP=88;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=50.21;MQ0=2;OQ=302.35;QD=3.44;SB=74.15 GT:AD:DP:GL:GQ 0/1:72,16:76:-56.43,-22.92,-203.92:99 -chr1 1520892 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=100;Dels=0.00;HRun=1;HaplotypeScore=71.05;MQ=51.39;MQ0=2;OQ=950.76;QD=9.51;SB=-387.75 GT:AD:DP:GL:GQ 0/1:63,37:86:-124.27,-25.91,-211.22:99 -chr1 1520953 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=74;Dels=0.01;HRun=0;HaplotypeScore=47.85;MQ=52.80;MQ0=2;OQ=265.98;QD=3.59;SB=-146.32 GT:AD:DP:GL:GQ 0/1:59,14:61:-47.97,-18.09,-205.99:99 -chr1 1520957 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=21.78;MQ=53.36;MQ0=2;OQ=105.70;QD=1.55;SB=-47.11 GT:AD:DP:GL:GQ 0/1:59,9:55:-30.43,-16.57,-209.84:99 -chr1 1520979 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=45.80;MQ=49.11;MQ0=2;OQ=234.58;QD=3.72;SB=-118.04 GT:AD:DP:GL:GQ 0/1:53,10:50:-41.81,-15.07,-172.68:99 -chr1 1521029 . C G 208.12 Indel AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=0;HaplotypeScore=31.42;MQ=47.45;MQ0=1;QD=3.20;SB=-33.62 GT:AD:DP:GL:GQ 0/1:53,12:61:-42.48,-18.38,-218.36:99 -chr1 1521111 . C G 34.71 LowQual AC=1;AF=0.50;AN=2;DP=75;Dels=0.05;HRun=0;HaplotypeScore=51.94;MQ=49.50;MQ0=5;QD=0.46;SB=-34.07 GT:AD:DP:GL:GQ 0/1:62,9:60:-24.84,-18.09,-231.30:67.54 -chr1 1521139 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=19.29;MQ=49.73;MQ0=4;OQ=471.32;QD=8.42;SB=-237.06 GT:AD:DP:GL:GQ 0/1:38,18:43:-63.38,-12.96,-121.81:99 -chr1 1521149 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=50;Dels=0.04;HRun=0;HaplotypeScore=25.97;MQ=51.25;MQ0=5;OQ=94.80;QD=1.90;SB=0.71 GT:AD:DP:GL:GQ 0/1:42,6:42:-25.43,-12.66,-151.77:99 -chr1 1521416 . G A 908.87 Indel AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=49.66;MQ0=7;QD=12.12;SB=-403.37 GT:AD:DP:GL:GQ 0/1:47,28:66:-114.05,-19.88,-141.06:99 -chr1 1521692 . G A 0.94 PASS AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=0;HaplotypeScore=9.14;MQ=58.40;MQ0=0;OQ=1252.37;QD=15.27;SB=-600.00 GT:AD:DP:GL:GQ 0/1:41,41:79:-152.32,-23.80,-150.35:99 -chr1 1521772 rs36210710 A G 0.25 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=15.96;MQ=57.04;MQ0=1;OQ=875.12;QD=13.46;SB=-359.37 GT:AD:DP:GL:GQ 0/1:32,33:57:-107.96,-17.17,-110.70:99 -chr1 1522125 rs28569178 A G 2.98 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=5.24;MQ=53.41;MQ0=0;OQ=1519.29;QD=31.65;SB=-783.99 GT:AD:DP:GL:GQ 1/1:0,48:43:-155.53,-12.95,-0.01:99 -chr1 1522142 rs35051391 A C 34.82 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=4.14;MQ=53.19;MQ0=0;OQ=509.94;QD=11.86;SB=-251.92 GT:AD:DP:GL:GQ 0/1:20,23:38:-65.73,-11.45,-61.61:99 -chr1 1522705 . C T 4.71 PASS AC=1;AF=0.50;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=50.65;MQ0=0;OQ=133.19;QD=16.65;SB=-79.09 GT:AD:DP:GL:GQ 0/1:3,5:8:-19.01,-2.41,-10.59:81.80 -chr1 1524477 rs11552172 T C 56.64 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.17;MQ0=0;OQ=436.12;QD=15.58;SB=-113.68 GT:AD:DP:GL:GQ 0/1:12,16:28:-55.34,-8.44,-45.31:99 -chr1 1527039 rs4075469 A C 248.77 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=59.34;MQ0=0;OQ=696.22;QD=16.58;SB=-340.88 GT:AD:DP:GL:GQ 0/1:16,26:40:-84.95,-12.05,-59.28:99 -chr1 1527300 rs7554569 C T 296.92 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=424.42;QD=8.16;SB=-236.55 GT:AD:DP:GL:GQ 0/1:35,17:46:-59.60,-13.87,-96.44:99 -chr1 1527750 . C A 254.99 PASS AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.50;MQ0=0;OQ=986.18;QD=16.71;SB=-374.21 GT:AD:DP:GL:GQ 0/1:26,33:55:-118.47,-16.57,-69.65:99 -chr1 1527909 . G A 103.61 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.52;MQ0=0;OQ=783.03;QD=16.31;SB=-358.36 GT:AD:DP:GL:GQ 0/1:23,25:47:-95.76,-14.17,-71.60:99 -chr1 1528300 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=3;HaplotypeScore=10.61;MQ=58.05;MQ0=0;OQ=286.83;QD=5.98;SB=62.19 GT:AD:DP:GL:GQ 0/1:26,22:41:-44.32,-12.35,-90.74:99 -chr1 1529232 rs6656591 T C 65.49 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=3.39;MQ=56.33;MQ0=0;OQ=1005.79;QD=17.65;SB=-491.70 GT:AD:DP:GL:GQ 0/1:23,34:55:-120.43,-16.57,-83.35:99 -chr1 1529445 rs6691649 G A 161.84 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=59.46;MQ0=0;OQ=1057.94;QD=19.59;SB=-480.07 GT:AD:DP:GL:GQ 0/1:20,34:51:-124.45,-15.37,-67.92:99 -chr1 1529817 rs4075275 G C 15.87 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=2.13;MQ=58.35;MQ0=0;OQ=1607.65;QD=30.92;SB=-720.33 GT:AD:DP:GL:GQ 1/1:0,52:40:-164.38,-12.07,-0.03:99 -chr1 1530590 . C T 27.41 PASS AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=55.36;MQ0=0;OQ=363.07;QD=13.45;SB=-133.59 GT:AD:DP:GL:GQ 0/1:14,13:26:-47.43,-7.84,-42.81:99 -chr1 1530910 . G C 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=6.92;MQ=37.58;MQ0=2;OQ=79.86;QD=5.32;SB=-10.00 GT:AD:DP:GL:GQ 0/1:7,8:5:-12.78,-1.51,-7.90:63.88 -chr1 1530912 . C G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=2;HaplotypeScore=4.15;MQ=38.11;MQ0=2;OQ=71.50;QD=5.11;SB=-6.99 GT:AD:DP:GL:GQ 0/1:4,10:6:-12.24,-1.81,-12.03:99 -chr1 1530952 . G C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=0;HaplotypeScore=8.79;MQ=42.16;MQ0=2;OQ=53.35;QD=3.33;SB=-39.44 GT:AD:DP:GL:GQ 0/1:11,5:9:-11.33,-2.71,-25.48:86.19 -chr1 1530975 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=1;HaplotypeScore=5.18;MQ=46.58;MQ0=0;OQ=57.06;QD=3.57;SB=5.04 GT:AD:DP:GL:GQ 0/1:12,4:12:-12.60,-3.61,-32.43:89.90 -chr1 1531008 . C G 10.82 LowQual AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=2;HaplotypeScore=6.64;MQ=46.16;MQ0=1;QD=0.52;SB=-26.85 GT:AD:DP:GL:GQ 0/1:16,5:11:-7.66,-3.33,-32.36:43.28 -chr1 1531060 . A C 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=0;HaplotypeScore=9.36;MQ=36.61;MQ0=1;OQ=116.93;QD=7.31;SB=-3.99 GT:AD:DP:GL:GQ 0/1:5,10:9:-17.69,-2.71,-12.57:98.57 -chr1 1531096 . C T 31.46 LowQual AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=8.94;MQ=35.04;MQ0=1;QD=3.15;SB=-6.99 GT:AD:DP:GL:GQ 0/1:5,5:4:-7.64,-1.21,-6.67:54.60 -chr1 1531214 . C T 12.58 LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=48.08;MQ0=0;QD=0.90;SB=-28.53 GT:AD:DP:GL:GQ 0/1:11,2:10:-7.53,-3.02,-23.43:45.17 -chr1 1531255 . G A 2.13 PASS AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=54.60;MQ0=0;OQ=208.62;QD=17.39;SB=-121.64 GT:AD:DP:GL:GQ 0/1:2,10:8:-26.44,-2.41,-2.60:1.87 -chr1 1531316 . A T 48.17 LowQual AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=48.85;MQ0=0;QD=2.01;SB=-30.94 GT:AD:DP:GL:GQ 0/1:15,8:14:-12.32,-4.22,-35.65:81.01 -chr1 1531334 . C T 13.43 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=45.60;MQ0=1;QD=0.56;SB=5.01 GT:AD:DP:GL:GQ 0/1:15,7:11:-7.93,-3.32,-25.96:46.07 -chr1 1531359 . G A 17.07 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=4.20;MQ=46.76;MQ0=1;QD=0.74;SB=11.04 GT:AD:DP:GL:GQ 0/1:19,4:19:-10.71,-5.73,-55.15:49.82 -chr1 1531380 . C G 42.65 LowQual AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=3;HaplotypeScore=7.66;MQ=46.38;MQ0=2;QD=1.42;SB=-45.68 GT:AD:DP:GL:GQ 0/1:23,7:24:-14.78,-7.24,-85.75:75.49 -chr1 1531419 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=2;HaplotypeScore=5.63;MQ=45.92;MQ0=1;OQ=63.73;QD=3.03;SB=23.10 GT:AD:DP:GL:GQ 0/1:16,5:18:-15.09,-5.43,-50.86:96.57 -chr1 1531527 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=2;HaplotypeScore=3.70;MQ=32.41;MQ0=1;OQ=75.08;QD=3.75;SB=-44.95 GT:AD:DP:GL:GQ 0/1:9,10:9:-13.51,-2.71,-17.78:99 -chr1 1531545 . G C 27.47 LowQual AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=8.08;MQ=36.24;MQ0=1;QD=1.37;SB=-32.85 GT:AD:DP:GL:GQ 0/1:18,2:9:-8.74,-2.71,-27.23:60.30 -chr1 1531547 . C G 25.49 LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=2;HaplotypeScore=8.42;MQ=36.81;MQ0=1;QD=1.34;SB=-27.40 GT:AD:DP:GL:GQ 0/1:14,5:6:-7.64,-1.81,-15.17:58.31 -chr1 1532873 rs9442420 T C 73.52 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.50;MQ0=0;OQ=1279.49;QD=27.81;SB=-597.57 GT:AD:DP:GL:GQ 1/1:0,46:41:-131.57,-12.37,-0.04:99 -chr1 1533487 rs61774903 T C 6.43 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=59.07;MQ0=0;OQ=267.71;QD=10.71;SB=-22.90 GT:AD:DP:GL:GQ 0/1:12,13:23:-36.99,-6.93,-45.73:99 -chr1 1533846 . C A 150.54 PASS AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=60.00;MQ0=0;OQ=607.30;QD=13.20;SB=-294.38 GT:AD:DP:GL:GQ 0/1:23,23:45:-77.57,-13.56,-81.22:99 -chr1 1534313 . G A 286.31 PASS AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.20;MQ0=0;OQ=679.07;QD=15.09;SB=-355.53 GT:AD:DP:GL:GQ 0/1:22,23:43:-84.16,-12.97,-66.20:99 -chr1 1535152 rs6671612 G T 108.66 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=2.91;MQ=57.71;MQ0=0;OQ=838.64;QD=11.98;SB=-304.64 GT:AD:DP:GL:GQ 0/1:41,29:64:-106.43,-19.29,-110.69:99 -chr1 1536167 rs11492279 C T 248.42 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=60.00;MQ0=0;OQ=1040.79;QD=15.31;SB=-440.43 GT:AD:DP:GL:GQ 0/1:36,32:64:-126.65,-19.29,-102.67:99 -chr1 1536812 rs4612573 T C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.03;HRun=1;HaplotypeScore=39.15;MQ=49.08;MQ0=0;OQ=1478.03;QD=23.09;SB=-556.56 GT:AD:DP:GL:GQ 1/1:5,57:50:-162.89,-15.07,-11.50:35.64 -chr1 1537429 rs4369171 A G 1.14 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=7.54;MQ=57.32;MQ0=0;OQ=2121.87;QD=33.68;SB=-744.31 GT:AD:DP:GL:GQ 1/1:0,62:59:-215.79,-17.77,-0.02:99 -chr1 1537803 . G T 52.70 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=13;HaplotypeScore=28.28;MQ=58.09;MQ0=1;QD=0.71;SB=63.90 GT:AD:DP:GL:GQ 0/1:60,13:55:-25.14,-16.58,-155.96:85.54 -chr1 1537805 . T C 135.64 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=0;HaplotypeScore=41.12;MQ=58.24;MQ0=1;QD=2.02;SB=15.89 GT:AD:DP:GL:GQ 0/1:57,10:56:-33.73,-16.88,-176.73:99 -chr1 1538333 . A G 136.38 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.45;MQ=58.86;MQ0=0;OQ=748.93;QD=13.87;SB=-356.58 GT:AD:DP:GL:GQ 0/1:27,27:53:-94.15,-15.98,-99.69:99 -chr1 1538565 rs9442431 T C 829.64 Indel AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=2;HaplotypeScore=7.58;MQ=50.06;MQ0=1;QD=21.83;SB=-151.73 GT:AD:DP:GL:GQ 1/1:0,37:28:-86.58,-8.45,-0.03:84.18 -chr1 1538664 rs9442430 T C 1.04 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.01;HRun=1;HaplotypeScore=8.39;MQ=59.12;MQ0=0;OQ=2182.53;QD=31.63;SB=-555.08 GT:AD:DP:GL:GQ 1/1:0,68:67:-221.88,-20.20,-0.05:99 -chr1 1539012 rs34501155 C T 24.47 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=2;HaplotypeScore=0.10;MQ=59.44;MQ0=0;OQ=1523.49;QD=20.31;SB=-698.38 GT:AD:DP:GL:GQ 0/1:29,46:74:-177.93,-22.30,-104.96:99 -chr1 1539217 rs12066 G A 112.48 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=2269.66;QD=38.47;SB=-1077.37 GT:AD:DP:GL:GQ 1/1:0,59:57:-230.57,-17.17,-0.02:99 -chr1 1539583 . C T 13.58 PASS AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=2;HaplotypeScore=2.17;MQ=59.69;MQ0=0;OQ=849.58;QD=14.16;SB=-408.41 GT:AD:DP:GL:GQ 0/1:34,26:60:-106.31,-18.07,-125.62:99 -chr1 1540565 rs4648611 A G 1.07 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=2;HaplotypeScore=4.13;MQ=58.95;MQ0=0;OQ=632.46;QD=28.75;SB=-329.75 GT:AD:DP:GL:GQ 1/1:0,22:20:-66.85,-6.03,-0.02:60.13 -chr1 1541790 rs7418389 T C 9.16 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=60.00;MQ0=0;OQ=644.37;QD=28.02;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,23:21:-68.04,-6.33,-0.01:63.14 -chr1 1542618 rs6604985 T C 187.42 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.49;MQ0=0;OQ=2789.66;QD=34.02;SB=-860.05 GT:AD:DP:GL:GQ 1/1:0,82:81:-282.58,-24.40,-0.03:99 -chr1 1543361 rs28546565 G A 262.71 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=59.46;MQ0=0;OQ=627.76;QD=14.60;SB=-285.20 GT:AD:DP:GL:GQ 0/1:20,23:40:-78.11,-12.05,-70.94:99 -chr1 1543456 rs28623434 C G 8.50 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=2.93;MQ=59.20;MQ0=0;OQ=2332.23;QD=40.21;SB=-1030.14 GT:AD:DP:GL:GQ 1/1:0,58:55:-236.83,-16.57,-0.02:99 -chr1 1543533 rs9442410 G C 82.06 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=2713.47;QD=43.07;SB=-1108.14 GT:AD:DP:GL:GQ 1/1:0,63:62:-274.95,-18.68,-0.02:99 -chr1 1544225 rs9442425 G A 33.58 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=2.11;MQ=59.22;MQ0=0;OQ=1855.01;QD=38.65;SB=-869.17 GT:AD:DP:GL:GQ 1/1:0,48:47:-189.10,-14.16,-0.01:99 -chr1 1545229 rs9329576 T C 4.58 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=2.58;MQ=60.00;MQ0=0;OQ=1266.55;QD=28.15;SB=-625.18 GT:AD:DP:GL:GQ 1/1:0,45:39:-130.27,-11.76,-0.03:99 -chr1 1545852 rs7543265 G A 8.95 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=6.32;MQ=58.20;MQ0=0;OQ=611.29;QD=15.67;SB=-238.27 GT:AD:DP:GL:GQ 0/1:17,20:35:-74.97,-10.56,-46.23:99 -chr1 1546595 rs34983251 G A 45.65 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=2.69;MQ=59.23;MQ0=0;OQ=349.98;QD=11.67;SB=-133.57 GT:AD:DP:GL:GQ 0/1:16,14:26:-46.12,-7.83,-51.50:99 -chr1 1547538 rs28710339 G C 59.83 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=3.45;MQ=58.50;MQ0=0;OQ=866.08;QD=15.47;SB=-347.43 GT:AD:DP:GL:GQ 0/1:31,25:53:-105.89,-16.00,-107.63:99 -chr1 1547753 . C T 52.88 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=58.60;MQ0=0;OQ=1139.64;QD=19.99;SB=-512.06 GT:AD:DP:GL:GQ 0/1:22,35:54:-133.53,-16.28,-63.46:99 -chr1 1548655 rs12755088 T C 97.70 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=439.27;QD=24.40;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,18:16:-47.54,-4.84,-0.03:48.08 -chr1 1548983 . C G 40.73 LowQual AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;HRun=5;HaplotypeScore=1.58;MQ=47.12;MQ0=0;QD=6.79;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,5:2:-7.48,-0.61,-0.00:6.02 -chr1 1549329 rs28617190 G A 97.62 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=1.74;MQ=57.37;MQ0=0;OQ=547.08;QD=16.09;SB=-253.53 GT:AD:DP:GL:GQ 0/1:16,18:32:-67.63,-9.64,-54.05:99 -chr1 1549834 rs12748433 C T 442.94 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.23;MQ0=0;OQ=1400.65;QD=37.86;SB=-569.32 GT:AD:DP:GL:GQ 1/1:0,37:36:-143.66,-10.85,-0.01:99 -chr1 1549963 rs28441650 G A 319.81 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.05;MQ0=0;OQ=739.99;QD=15.10;SB=-342.91 GT:AD:DP:GL:GQ 0/1:25,24:48:-91.75,-14.47,-81.34:99 -chr1 1551048 . G A 13.72 PASS AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=55.20;MQ0=0;OQ=331.40;QD=13.81;SB=-96.94 GT:AD:DP:GL:GQ 0/1:12,12:21:-42.75,-6.33,-33.17:99 -chr1 1551194 . G A 9.75 PASS AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=59.45;MQ0=0;OQ=497.08;QD=14.62;SB=-108.95 GT:AD:DP:GL:GQ 0/1:18,16:33:-62.94,-9.95,-55.65:99 -chr1 1552758 rs12735861 C T 11.10 PASS AC=1;AF=0.50;AN=2;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=56.58;MQ0=0;OQ=143.44;QD=15.94;SB=-6.99 GT:AD:DP:GL:GQ 0/1:3,6:8:-20.04,-2.41,-9.16:67.50 -chr1 1553652 . C A 57.28 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=59.52;MQ0=0;OQ=736.76;QD=15.35;SB=-347.43 GT:AD:DP:GL:GQ 0/1:23,25:44:-90.22,-13.26,-60.84:99 -chr1 1554057 rs3935032 C T 0.35 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=1.82;MQ=59.31;MQ0=0;OQ=580.92;QD=21.52;SB=-104.60 GT:AD:DP:GL:GQ 0/1:9,18:26:-69.21,-7.83,-32.29:99 -chr1 1555931 rs28730454 A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=7;HaplotypeScore=0.32;MQ=55.21;MQ0=0;OQ=59.16;QD=11.83;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,5:3:-9.41,-0.90,-0.00:9.02 -chr1 1556023 rs28464684 T C 13.91 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=73.72;QD=24.57;SB=-40.68 GT:AD:DP:GL:GQ 1/1:0,3:3:-10.86,-0.90,-0.00:9.03 -chr1 1556952 rs28451771 T C 12.66 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.78;MQ0=0;OQ=601.05;QD=31.63;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,19:19:-63.70,-5.72,-0.01:57.14 -chr1 1561503 rs61774909 G T 0.68 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.92;MQ=9.65;MQ0=29;OQ=78.96;QD=2.47;SB=-10.00 GT:AD:DP:GL:GQ 1/1:16,16:3:-11.38,-0.90,-0.00:9.03 -chr1 1563882 rs61774911 A G 1.20 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=39.06;MQ0=5;OQ=124.38;QD=2.76;SB=-85.66 GT:AD:DP:GL:GQ 0/1:34,10:35:-26.27,-10.55,-104.24:99 -chr1 1563939 rs9442413 G A 8.49 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=40.26;MQ0=2;OQ=315.22;QD=4.50;SB=-153.56 GT:AD:DP:GL:GQ 0/1:51,19:59:-52.60,-17.79,-143.72:99 -chr1 1564183 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=20;HaplotypeScore=14.98;MQ=46.49;MQ0=5;OQ=64.66;QD=1.80;SB=35.13 GT:AD:DP:GL:GQ 0/1:31,5:28:-18.18,-8.44,-79.86:97.49 -chr1 1564572 rs28401288 T G 29.42 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=41.92;MQ0=1;OQ=1158.48;QD=27.58;SB=-476.97 GT:AD:DP:GL:GQ 1/1:0,42:35:-119.45,-10.55,-0.02:99 -chr1 1565479 rs28394074 T C 98.76 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=12.86;MQ0=16;OQ=207.25;QD=7.68;SB=-36.94 GT:AD:DP:GL:GQ 1/1:0,27:7:-24.31,-2.11,-0.00:21.06 -chr1 1565699 . C G 5.41 PASS AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=1;HaplotypeScore=2.34;MQ=26.47;MQ0=10;OQ=657.44;QD=8.65;SB=-346.42 GT:AD:DP:GL:GQ 0/1:55,21:62:-87.73,-18.71,-164.80:99 -chr1 1566499 rs3765908 G A 18.31 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=2.75;MQ=37.81;MQ0=3;OQ=1730.84;QD=29.34;SB=-752.15 GT:AD:DP:GL:GQ 1/1:8,51:54:-192.27,-16.27,-15.84:4.30 -chr1 1566866 rs3819995 C T 33.13 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=17.30;MQ0=34;OQ=418.63;QD=7.34;SB=-10.00 GT:AD:DP:GL:GQ 0/1:21,36:18:-50.57,-5.43,-18.99:99 -chr1 1567043 rs1137001 C T 0.22 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=9.65;MQ0=38;OQ=66.77;QD=1.34;SB=-10.00 GT:AD:DP:GL:GQ 0/1:35,15:6:-11.77,-1.81,-10.91:90.99 -chr1 1569585 rs61774912 C T 0.10 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=8.98;MQ=13.84;MQ0=43;OQ=132.92;QD=1.51;SB=-3.99 GT:AD:DP:GL:GQ 0/1:64,24:26:-24.41,-7.83,-74.67:99 -chr1 1569917 rs6688326 C A 0.25 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=2.45;MQ=26.34;MQ0=26;OQ=227.69;QD=3.04;SB=-87.75 GT:AD:DP:GL:GQ 0/1:58,17:44:-39.31,-13.26,-117.30:99 -chr1 1570601 rs4648767 T A 243.47 PASS AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=1.76;MQ=24.85;MQ0=18;OQ=1006.84;QD=11.57;SB=-380.53 GT:AD:DP:GL:GQ 0/1:42,45:58:-121.45,-17.48,-87.58:99 -chr1 1570928 . G C 0.90 PASS AC=1;AF=0.50;AN=2;DP=153;Dels=0.00;HRun=0;HaplotypeScore=3.62;MQ=32.27;MQ0=14;OQ=845.01;QD=5.52;SB=-333.79 GT:AD:DP:GL:GQ 0/1:113,40:123:-124.85,-37.07,-408.45:99 -chr1 1570959 . C T 0.27 PASS AC=1;AF=0.50;AN=2;DP=165;Dels=0.00;HRun=2;HaplotypeScore=4.89;MQ=34.90;MQ0=12;OQ=2272.40;QD=13.77;SB=-727.55 GT:AD:DP:GL:GQ 0/1:85,80:144:-273.90,-43.38,-268.43:99 -chr1 1571421 rs61774913 C T 442.63 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=18.06;MQ0=31;OQ=744.27;QD=14.31;SB=-218.78 GT:AD:DP:GL:GQ 1/1:0,52:19:-78.02,-5.72,-0.00:57.19 -chr1 1571449 rs61774914 T C 385.68 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=19.48;MQ0=37;OQ=993.50;QD=14.19;SB=-324.14 GT:AD:DP:GL:GQ 1/1:0,70:28:-102.94,-8.43,-0.01:84.26 -chr1 1571467 . G A 0.11 PASS AC=1;AF=0.50;AN=2;DP=88;Dels=0.00;HRun=0;HaplotypeScore=5.46;MQ=31.83;MQ0=25;OQ=330.51;QD=3.76;SB=-146.19 GT:AD:DP:GL:GQ 0/1:69,19:55:-52.91,-16.58,-135.58:99 -chr1 1571576 . A C 50.03 PASS AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=35.58;MQ0=13;OQ=1974.59;QD=21.23;SB=-847.56 GT:AD:DP:GL:GQ 1/1:0,61:79:-282.59,-90.56,-81.54:90.13 -chr1 1571744 rs61774916 T C 0.32 PASS AC=1;AF=0.50;AN=2;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=43.65;MQ0=18;OQ=618.53;QD=4.99;SB=-195.46 GT:AD:DP:GL:GQ 0/1:91,33:103:-96.17,-31.03,-294.76:99 -chr1 1571789 rs61774917 G T 99.17 PASS AC=1;AF=0.50;AN=2;DB;DP=114;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=40.38;MQ0=17;OQ=858.73;QD=7.53;SB=-166.41 GT:AD:DP:GL:GQ 0/1:66,48:94:-117.47,-28.31,-223.12:99 -chr1 1571821 rs4279785 T C 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=125;Dels=0.00;HRun=1;HaplotypeScore=1.20;MQ=33.09;MQ0=22;OQ=74.70;QD=0.60;SB=13.40 GT:AD:DP:GL:GQ 0/1:103,22:85:-36.35,-25.60,-306.33:99 -chr1 1571969 rs4648753 T C 252.37 PASS AC=2;AF=1.00;AN=2;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=33.21;MQ0=23;OQ=2308.47;QD=23.08;SB=-928.73 GT:AD:DP:GL:GQ 1/1:1,99:73:-234.50,-22.02,-0.07:99 -chr1 1572065 rs61774918 C T 271.62 PASS AC=1;AF=0.50;AN=2;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=40.98;MQ0=5;OQ=1993.46;QD=16.08;SB=-715.20 GT:AD:DP:GL:GQ 0/1:57,67:116:-237.58,-34.95,-201.11:99 -chr1 1572318 rs61774919 G A 28.59 PASS AC=1;AF=0.50;AN=2;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=4.27;MQ=26.57;MQ0=15;OQ=1639.76;QD=9.48;SB=-550.56 GT:AD:DP:GL:GQ 0/1:104,69:121:-203.75,-36.49,-222.67:99 -chr1 1572479 . T C 0.14 PASS AC=1;AF=0.50;AN=2;DP=143;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=45.14;MQ0=0;OQ=1750.04;QD=12.24;SB=-888.87 GT:AD:DP:GL:GQ 0/1:83,60:141:-220.76,-42.47,-332.08:99 -chr1 1572504 . T C 0.71 PASS AC=1;AF=0.50;AN=2;DP=136;Dels=0.00;HRun=0;HaplotypeScore=1.61;MQ=42.33;MQ0=3;OQ=1049.29;QD=7.72;SB=-546.16 GT:AD:DP:GL:GQ 0/1:84,52:129:-147.09,-38.88,-337.66:99 -chr1 1572657 rs4648754 C A 97.80 PASS AC=2;AF=1.00;AN=2;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=3.13;MQ=39.40;MQ0=0;OQ=4131.60;QD=35.01;SB=-1448.13 GT:AD:DP:GL:GQ 1/1:1,117:114:-412.16,-34.34,-0.04:99 -chr1 1572704 rs61774920 A G 0.40 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=29.04;MQ0=13;OQ=131.71;QD=1.78;SB=23.25 GT:AD:DP:GL:GQ 0/1:54,20:56:-33.33,-16.87,-184.69:99 -chr1 1572707 rs61774921 G T 0.96 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=28.52;MQ0=13;OQ=177.56;QD=2.50;SB=-37.61 GT:AD:DP:GL:GQ 0/1:52,19:55:-37.61,-16.57,-159.55:99 -chr1 1572743 rs3820000 G C 38.18 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=26.84;MQ0=19;OQ=650.68;QD=7.75;SB=38.16 GT:AD:DP:GL:GQ 0/1:50,34:58:-85.85,-17.49,-156.24:99 -chr1 1572824 rs3820001 G C 184.22 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=3.61;MQ=41.82;MQ0=4;OQ=1359.68;QD=17.43;SB=-597.25 GT:AD:DP:GL:GQ 0/1:31,47:67:-159.47,-20.22,-110.10:99 -chr1 1572866 rs61776849 C T 39.28 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=4.48;MQ=49.73;MQ0=0;OQ=1155.72;QD=12.70;SB=-351.36 GT:AD:DP:GL:GQ 0/1:50,41:84:-144.17,-25.32,-161.47:99 -chr1 1572951 . A G 0.08 PASS AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=47.33;MQ0=7;OQ=238.29;QD=2.91;SB=26.27 GT:AD:DP:GL:GQ 0/1:60,22:73:-49.11,-21.99,-235.06:99 -chr1 1573358 rs61774952 T C 32.21 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=47.33;MQ0=8;QD=0.37;SB=67.42 GT:AD:DP:GL:GQ 0/1:70,16:71:-27.89,-21.39,-252.84:65.04 -chr1 1573532 . C T 35.47 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=10.41;MQ0=15;QD=1.97;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,3:3:-7.73,-0.90,-3.80:28.93 -chr1 1573550 . T C 24.36 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=33.97;MQ0=17;QD=0.72;SB=-17.89 GT:AD:DP:GL:GQ 0/1:23,11:14:-9.94,-4.22,-42.08:57.18 -chr1 1573618 . C T 2.54 PASS AC=1;AF=0.50;AN=2;DP=105;Dels=0.00;HRun=0;HaplotypeScore=5.35;MQ=45.15;MQ0=15;OQ=814.16;QD=7.75;SB=-232.64 GT:AD:DP:GL:GQ 0/1:66,38:82:-109.43,-24.73,-173.93:99 -chr1 1573625 . G A 3.56 PASS AC=1;AF=0.50;AN=2;DP=106;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=45.17;MQ0=14;OQ=654.74;QD=6.18;SB=-207.09 GT:AD:DP:GL:GQ 0/1:70,36:84:-94.09,-25.34,-189.03:99 -chr1 1573865 rs6691927 A G 0.48 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=13.93;MQ=47.63;MQ0=8;OQ=1026.45;QD=17.40;SB=-411.69 GT:AD:DP:GL:GQ 0/1:13,46:46:-119.80,-13.87,-37.07:99 -chr1 1573965 rs28525262 G A 126.85 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.29;MQ=48.13;MQ0=7;OQ=3091.70;QD=33.97;SB=-1505.87 GT:AD:DP:GL:GQ 1/1:7,83:80:-316.25,-24.10,-3.49:99 -chr1 1573980 rs4648756 G C 18.18 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=4.39;MQ=47.15;MQ0=6;OQ=3392.36;QD=38.99;SB=-1642.01 GT:AD:DP:GL:GQ 1/1:0,87:79:-338.24,-23.81,-0.03:99 -chr1 1574055 rs4648606 G A 59.73 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=37.73;MQ0=7;OQ=2424.32;QD=33.21;SB=-1231.00 GT:AD:DP:GL:GQ 1/1:0,72:61:-246.03,-18.38,-0.02:99 -chr1 1574081 rs4648607 T C 84.11 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=40.76;MQ0=4;OQ=2240.23;QD=31.55;SB=-1072.45 GT:AD:DP:GL:GQ 1/1:0,71:63:-227.63,-18.98,-0.02:99 -chr1 1574087 rs4648757 G C 98.21 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=43.14;MQ0=1;OQ=2791.35;QD=39.31;SB=-1268.99 GT:AD:DP:GL:GQ 1/1:0,71:65:-282.74,-19.59,-0.02:99 -chr1 1574123 . A C 149.77 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=0;HaplotypeScore=169.77;MQ=39.72;MQ0=1;QD=1.63;SB=83.29 GT:AD:DP:GL:GQ 0/1:79,13:73:-40.25,-21.99,-225.95:99 -chr1 1574124 . A G 50.98 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=0;HaplotypeScore=170.51;MQ=39.99;MQ0=1;QD=0.55;SB=86.31 GT:AD:DP:GL:GQ 0/1:80,13:72:-30.08,-21.70,-250.90:83.81 -chr1 1574131 . A G 472.59 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=2;HaplotypeScore=66.93;MQ=41.08;MQ0=1;QD=5.25;SB=86.31 GT:AD:DP:GL:GQ 0/1:61,29:78:-74.04,-23.50,-234.93:99 -chr1 1574135 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=0;HaplotypeScore=78.57;MQ=41.20;MQ0=1;OQ=155.65;QD=1.75;SB=86.32 GT:AD:DP:GL:GQ 0/1:76,13:71:-40.23,-21.39,-240.65:99 -chr1 1574143 . A G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.67;MQ=43.74;MQ0=1;OQ=78.06;QD=1.07;SB=89.31 GT:AD:DP:GL:GQ 0/1:60,13:65:-30.68,-19.59,-219.52:99 -chr1 1574152 . C T 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.44;MQ=43.30;MQ0=0;OQ=130.78;QD=1.92;SB=41.52 GT:AD:DP:GL:GQ 0/1:58,10:59:-34.15,-17.79,-160.93:99 -chr1 1574339 . T A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=78;Dels=0.00;HRun=0;HaplotypeScore=12.88;MQ=42.39;MQ0=0;OQ=429.14;QD=5.50;SB=104.35 GT:AD:DP:GL:GQ 0/1:59,19:76:-69.09,-22.90,-217.44:99 -chr1 1574367 rs12749208 C T 7.96 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=36.29;MQ0=0;OQ=733.94;QD=10.48;SB=80.18 GT:AD:DP:GL:GQ 0/1:43,27:66:-96.58,-19.90,-132.61:99 -chr1 1574398 rs12756960 A G 17.43 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.82;MQ=34.26;MQ0=0;QD=0.28;SB=39.57 GT:AD:DP:GL:GQ 0/1:29,33:32:-14.67,-9.65,-103.72:50.18 -chr1 1574404 rs12756961 A T 204.46 Indel AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=1.82;MQ=35.46;MQ0=0;QD=3.01;SB=-19.65 GT:AD:DP:GL:GQ 0/1:32,36:41:-36.08,-12.35,-112.04:99 -chr1 1574410 rs12749336 C G 884.89 Indel AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=10.32;MQ=35.72;MQ0=0;QD=12.82;SB=-17.81 GT:AD:DP:GL:GQ 0/1:40,29:35:-102.33,-10.56,-39.37:99 -chr1 1574434 rs61774954 A C 428.65 DPFilter;Indel AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=8.25;MQ=34.95;MQ0=1;QD=6.30;SB=56.20 GT:AD:DP:GL:GQ 0/1:39,29:57:-63.32,-17.18,-124.62:99 -chr1 1574437 rs61774955 A C 431.78 DPFilter;Indel AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=7.93;MQ=34.95;MQ0=1;QD=6.35;SB=56.19 GT:AD:DP:GL:GQ 0/1:38,30:51:-61.82,-15.36,-118.50:99 -chr1 1574456 rs12749364 C A 1380.74 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=20.46;MQ=37.20;MQ0=1;QD=17.26;SB=-577.01 GT:AD:DP:GL:GQ 1/1:30,50:46:-152.08,-13.86,-10.42:34.36 -chr1 1574458 . G C 45.27 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=79;Dels=0.01;HRun=0;HaplotypeScore=10.44;MQ=37.76;MQ0=1;QD=0.57;SB=71.27 GT:AD:DP:GL:GQ 0/1:52,26:51:-22.87,-15.06,-200.14:78.10 -chr1 1574459 . G A 19.52 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=78;Dels=0.01;HRun=1;HaplotypeScore=9.38;MQ=37.85;MQ0=1;QD=0.25;SB=68.24 GT:AD:DP:GL:GQ 0/1:50,27:51:-20.29,-15.06,-165.60:52.31 -chr1 1574490 . C T 446.32 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=13.97;MQ=40.46;MQ0=1;QD=6.11;SB=62.20 GT:AD:DP:GL:GQ 0/1:48,25:59:-65.69,-17.77,-151.07:99 -chr1 1574491 . A G 363.54 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=14.98;MQ=40.79;MQ0=1;QD=4.91;SB=65.24 GT:AD:DP:GL:GQ 0/1:48,26:58:-57.11,-17.48,-164.32:99 -chr1 1574495 . G A 435.54 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=16.96;MQ=40.97;MQ0=1;QD=5.73;SB=65.16 GT:AD:DP:GL:GQ 0/1:50,26:61:-65.23,-18.39,-146.68:99 -chr1 1574611 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=41.66;MQ0=2;OQ=80.08;QD=1.13;SB=68.24 GT:AD:DP:GL:GQ 0/1:54,17:60:-29.38,-18.09,-195.87:99 -chr1 1574622 . G A 0.30 PASS AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=40.91;MQ0=2;OQ=251.34;QD=3.44;SB=59.11 GT:AD:DP:GL:GQ 0/1:55,18:61:-46.81,-18.39,-160.50:99 -chr1 1574627 . C T 0.19 PASS AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=42.21;MQ0=2;OQ=221.98;QD=2.88;SB=74.24 GT:AD:DP:GL:GQ 0/1:61,16:67:-45.68,-20.20,-184.31:99 -chr1 1574705 rs12753686 C T 533.95 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=47.26;MQ0=1;OQ=2577.15;QD=38.46;SB=-1301.71 GT:AD:DP:GL:GQ 1/1:1,66:64:-261.31,-19.28,-0.01:99 -chr1 1574781 rs12753729 C T 0.96 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=7.51;MQ=55.74;MQ0=0;OQ=2039.46;QD=37.77;SB=-910.24 GT:AD:DP:GL:GQ 1/1:1,53:52:-207.55,-15.67,-0.02:99 -chr1 1575120 rs4648758 A G 435.58 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.79;MQ0=0;OQ=1070.30;QD=28.93;SB=-511.19 GT:AD:DP:GL:GQ 1/1:0,37:35:-110.65,-10.56,-0.04:99 -chr1 1575210 rs4648760 T C 43.48 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=0.47;MQ=63.90;MQ0=0;OQ=1693.31;QD=34.56;SB=-784.12 GT:AD:DP:GL:GQ 1/1:0,49:49:-172.94,-14.76,-0.02:99 -chr1 1575251 rs4648761 A G 5.46 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=60.80;MQ0=0;OQ=1436.67;QD=28.17;SB=-671.85 GT:AD:DP:GL:GQ 1/1:0,51:45:-147.29,-13.57,-0.04:99 -chr1 1575460 rs7531938 A G 536.50 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.20;MQ0=0;OQ=2059.81;QD=30.29;SB=-875.65 GT:AD:DP:GL:GQ 1/1:0,68:66:-209.63,-19.91,-0.06:99 -chr1 1575505 rs3936009 G T 209.53 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.70;MQ=57.75;MQ0=0;OQ=2310.00;QD=35.54;SB=-1127.37 GT:AD:DP:GL:GQ 1/1:0,65:65:-234.60,-19.58,-0.02:99 -chr1 1576615 rs11486023 T C 106.32 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=57.19;MQ0=0;OQ=1526.39;QD=31.15;SB=-484.14 GT:AD:DP:GL:GQ 1/1:0,49:47:-156.26,-14.17,-0.04:99 -chr1 1577178 rs4648762 A G 161.07 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=54.74;MQ0=0;OQ=2251.82;QD=30.85;SB=-761.70 GT:AD:DP:GL:GQ 1/1:0,72:69:-228.82,-20.80,-0.05:99 -chr1 1578533 rs61774958 G A 209.68 PASS AC=1;AF=0.50;AN=2;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=45.20;MQ0=11;OQ=1051.54;QD=7.73;SB=-56.39 GT:AD:DP:GL:GQ 0/1:86,50:122:-145.19,-36.75,-299.83:99 -chr1 1578580 rs61774959 G A 15.52 PASS AC=1;AF=0.50;AN=2;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=42.73;MQ0=4;OQ=297.29;QD=2.89;SB=-52.85 GT:AD:DP:GL:GQ 0/1:73,30:83:-58.01,-25.00,-251.41:99 -chr1 1578600 rs61776760 C T 0.35 PASS AC=1;AF=0.50;AN=2;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=43.98;MQ0=2;OQ=158.49;QD=1.69;SB=-47.28 GT:AD:DP:GL:GQ 0/1:69,25:74:-41.42,-22.29,-233.46:99 -chr1 1579194 rs28530622 C G 155.54 PASS AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.72;MQ0=1;OQ=430.39;QD=33.11;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,13:10:-46.62,-3.01,-0.00:30.10 -chr1 1579428 rs61776762 A G 153.73 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=25.52;MQ0=1;OQ=97.37;QD=13.91;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,7:4:-13.27,-1.21,-0.00:12.02 -chr1 1580015 rs11486024 G A 46.74 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=22.93;MQ0=7;OQ=160.84;QD=5.96;SB=11.04 GT:AD:DP:GL:GQ 0/1:15,12:15:-23.90,-4.53,-24.75:99 -chr1 1580190 rs7547516 A G 298.92 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=32.87;MQ0=6;OQ=291.00;QD=13.23;SB=-79.37 GT:AD:DP:GL:GQ 1/1:0,22:11:-32.70,-3.32,-0.02:33.05 -chr1 1580389 rs9329573 G C 27.04 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.40;MQ=38.23;MQ0=0;OQ=1419.74;QD=36.40;SB=-378.04 GT:AD:DP:GL:GQ 1/1:0,39:37:-145.59,-11.17,-0.03:99 -chr1 1580438 rs9661285 G A 38.22 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=39.42;MQ0=4;OQ=1274.78;QD=31.87;SB=-484.63 GT:AD:DP:GL:GQ 1/1:2,38:33:-131.07,-9.94,-0.01:99 -chr1 1580544 rs9661500 G A 46.95 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=56.47;MQ0=0;OQ=1331.19;QD=35.03;SB=-445.09 GT:AD:DP:GL:GQ 1/1:0,38:35:-136.72,-10.55,-0.02:99 -chr1 1581642 . C T 0.06 PASS AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.20;MQ=10.78;MQ0=31;OQ=96.64;QD=2.06;SB=-42.54 GT:AD:DP:GL:GQ 0/1:28,19:6:-14.76,-1.81,-6.20:43.86 -chr1 1581652 rs61776763 A G 3.75 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=2.07;MQ=12.19;MQ0=23;OQ=234.90;QD=5.87;SB=-48.96 GT:AD:DP:GL:GQ 1/1:0,40:8:-27.08,-2.41,-0.00:24.06 -chr1 1581732 . C T 10.55 PASS AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=19.72;MQ0=12;OQ=388.23;QD=16.18;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,24:11:-42.41,-3.31,-0.00:33.10 -chr1 1581758 rs61776764 C G 0.40 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=4.17;MQ=24.63;MQ0=12;OQ=1218.98;QD=26.50;SB=-184.87 GT:AD:DP:GL:GQ 1/1:2,44:29:-125.50,-8.74,-0.02:87.29 -chr1 1582007 rs28625763 T C 180.58 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.96;MQ0=0;OQ=1011.19;QD=29.74;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,34:31:-104.72,-9.34,-0.02:93.23 -chr1 1582130 rs4648770 T G 609.06 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=44.32;MQ0=0;OQ=2027.74;QD=33.24;SB=-1018.12 GT:AD:DP:GL:GQ 1/1:1,60:58:-206.38,-17.47,-0.02:99 -chr1 1582744 rs4648774 A C 3.99 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=4.26;MQ=37.79;MQ0=0;OQ=1971.73;QD=29.87;SB=-941.08 GT:AD:DP:GL:GQ 1/1:1,65:56:-200.78,-16.87,-0.02:99 -chr1 1582886 rs1062088 G C 0.12 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=28.33;MQ0=1;OQ=872.58;QD=39.66;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,22:20:-90.85,-6.03,-0.01:60.20 -chr1 1584178 rs1061892 C T 196.43 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=53.48;MQ0=0;OQ=3220.76;QD=38.34;SB=-1363.82 GT:AD:DP:GL:GQ 1/1:0,84:80:-325.67,-24.10,-0.02:99 -chr1 1584256 rs6659270 T A 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=6;HaplotypeScore=1.24;MQ=50.39;MQ0=3;OQ=904.07;QD=12.05;SB=-396.42 GT:AD:DP:GL:GQ 0/1:40,35:71:-115.08,-21.39,-150.96:99 -chr1 1584361 rs7416520 C T 137.41 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=54.09;MQ0=1;OQ=651.60;QD=13.86;SB=-179.69 GT:AD:DP:GL:GQ 0/1:25,22:41:-80.80,-12.36,-66.61:99 -chr1 1585061 rs4307513 A G 66.26 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=51.44;MQ0=9;OQ=1311.89;QD=23.85;SB=-662.93 GT:AD:DP:GL:GQ 1/1:0,55:42:-134.81,-12.67,-0.04:99 -chr1 1585263 rs4313339 A G 2.76 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=25.65;MQ0=5;OQ=594.23;QD=25.84;SB=-123.88 GT:AD:DP:GL:GQ 1/1:0,23:18:-63.01,-5.42,-0.01:54.15 -chr1 1585730 rs4443835 C A 38.28 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=31.44;MQ0=8;OQ=878.16;QD=23.73;SB=-366.86 GT:AD:DP:GL:GQ 1/1:0,37:25:-91.41,-7.53,-0.01:75.22 -chr1 1586059 rs1109644 C T 45.13 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=26.30;MQ0=10;OQ=1336.40;QD=26.73;SB=-334.34 GT:AD:DP:GL:GQ 1/1:3,47:35:-137.24,-10.55,-0.01:99 -chr1 1586167 rs1109645 G A 15.01 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=25.64;MQ0=10;OQ=920.81;QD=25.58;SB=-127.66 GT:AD:DP:GL:GQ 1/1:5,31:24:-95.67,-7.23,-0.01:72.23 -chr1 1586837 rs4074020 C T 96.36 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=59.56;MQ0=0;OQ=1972.50;QD=37.93;SB=-886.69 GT:AD:DP:GL:GQ 1/1:0,52:51:-200.86,-15.37,-0.02:99 -chr1 1588296 . A C 37.76 DPFilter;Indel;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=1;HaplotypeScore=3.93;MQ=44.22;MQ0=1;QD=2.36;SB=20.08 GT:AD:DP:GL:GQ 0/1:12,4:13:-10.98,-3.92,-35.85:70.59 -chr1 1588297 . C T 55.71 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=2;HaplotypeScore=3.93;MQ=44.22;MQ0=1;QD=3.48;SB=17.08 GT:AD:DP:GL:GQ 0/1:12,4:12:-12.47,-3.61,-34.17:88.55 -chr1 1588300 . G T 70.59 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=2;HaplotypeScore=3.93;MQ=44.22;MQ0=1;QD=4.41;SB=-0.98 GT:AD:DP:GL:GQ 0/1:12,4:13:-14.26,-3.92,-32.75:99 -chr1 1588313 . A G 0.48 PASS AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=34.54;MQ0=0;OQ=106.39;QD=17.73;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,6:4:-14.17,-1.20,-0.00:12.04 -chr1 1588430 . A C 41.05 HARD_TO_VALIDATE;LowQual;SnpCluster AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;HRun=1;HaplotypeScore=7.96;MQ=16.51;MQ0=4;QD=5.86;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,5:2:-7.51,-0.60,-0.00:6.02 -chr1 1588435 . G A 88.13 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=3.96;MQ=17.24;MQ0=5;QD=8.81;SB=-10.00 GT:AD:DP:GL:GQ 1/1:5,5:3:-12.30,-0.90,-0.00:9.03 -chr1 1588436 . C T 85.79 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=17.47;MQ0=5;QD=9.53;SB=-10.00 GT:AD:DP:GL:GQ 1/1:4,5:3:-12.07,-0.90,-0.00:9.03 -chr1 1588443 . T A 229.32 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=32.72;MQ0=5;QD=15.29;SB=-115.17 GT:AD:DP:GL:GQ 1/1:5,10:7:-26.51,-2.11,-0.00:21.07 -chr1 1589024 rs6604981 A G 620.61 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.22;MQ0=0;OQ=1995.26;QD=35.00;SB=-949.98 GT:AD:DP:GL:GQ 1/1:0,57:56:-203.13,-16.87,-0.02:99 -chr1 1589224 rs6662227 A G 24.79 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=48.28;MQ0=4;OQ=837.14;QD=23.92;SB=-301.43 GT:AD:DP:GL:GQ 1/1:0,35:27:-87.33,-8.14,-0.03:81.18 -chr1 1589250 . A G 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=2;HaplotypeScore=3.35;MQ=44.60;MQ0=6;OQ=197.93;QD=4.95;SB=-12.85 GT:AD:DP:GL:GQ 0/1:24,16:34:-33.32,-10.25,-92.46:99 -chr1 1589410 rs12725286 C T 1.49 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=10.99;MQ=39.64;MQ0=8;OQ=1191.02;QD=13.38;SB=-569.58 GT:AD:DP:GL:GQ 0/1:50,39:71:-143.77,-21.38,-134.51:99 -chr1 1589675 rs12729295 C T 309.36 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.48;MQ0=3;OQ=671.60;QD=8.72;SB=-350.30 GT:AD:DP:GL:GQ 0/1:53,24:68:-90.94,-20.50,-145.90:99 -chr1 1589751 rs2072923 A G 247.26 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=29.67;MQ0=6;OQ=1186.35;QD=17.98;SB=-547.83 GT:AD:DP:GL:GQ 0/1:14,52:56:-138.81,-16.89,-48.69:99 -chr1 1589844 . C T 0.07 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=10.53;MQ=52.48;MQ0=3;OQ=898.69;QD=17.28;SB=-297.81 GT:AD:DP:GL:GQ 0/1:24,28:47:-107.32,-14.16,-70.31:99 -chr1 1589914 . C G 0.11 PASS AC=1;AF=0.50;AN=2;DP=88;Dels=0.00;HRun=2;HaplotypeScore=0.33;MQ=46.80;MQ0=0;OQ=573.53;QD=6.52;SB=39.39 GT:AD:DP:GL:GQ 0/1:67,21:88:-87.20,-26.56,-264.39:99 -chr1 1589924 . G A 1.33 PASS AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=1;HaplotypeScore=0.49;MQ=46.92;MQ0=0;OQ=633.71;QD=6.67;SB=49.65 GT:AD:DP:GL:GQ 0/1:70,25:92:-94.37,-27.71,-247.48:99 -chr1 1590019 . C G 30.30 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=49.37;MQ0=3;OQ=641.05;QD=9.29;SB=-314.06 GT:AD:DP:GL:GQ 0/1:47,21:64:-90.20,-22.81,-187.56:99 -chr1 1590023 . C T 0.46 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=8.72;MQ=48.76;MQ0=3;OQ=551.31;QD=8.89;SB=-275.75 GT:AD:DP:GL:GQ 0/1:40,22:54:-74.68,-16.27,-125.00:99 -chr1 1590878 . G A 29.06 PASS AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=58.63;MQ0=0;OQ=418.19;QD=12.30;SB=-160.22 GT:AD:DP:GL:GQ 0/1:18,16:32:-54.75,-9.64,-59.96:99 -chr1 1590915 . G A 47.89 PASS AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=58.20;MQ0=0;OQ=322.06;QD=8.26;SB=-141.18 GT:AD:DP:GL:GQ 0/1:27,12:38:-46.95,-11.46,-84.40:99 -chr1 1592399 rs4648609 G C 54.97 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=906.62;QD=20.60;SB=-310.97 GT:AD:DP:GL:GQ 0/1:19,25:42:-106.61,-12.66,-75.02:99 -chr1 1592450 rs4233029 C T 90.67 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=60.00;MQ0=0;OQ=849.63;QD=19.76;SB=-437.98 GT:AD:DP:GL:GQ 0/1:15,28:37:-99.40,-11.15,-39.71:99 -chr1 1592650 rs4639697 G T 61.57 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=1.87;MQ=58.92;MQ0=0;OQ=2757.17;QD=35.35;SB=-1369.99 GT:AD:DP:GL:GQ 1/1:1,77:76:-279.32,-22.89,-0.02:99 -chr1 1593099 rs11523819 G A 285.98 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.60;MQ0=0;OQ=1010.41;QD=14.43;SB=-280.29 GT:AD:DP:GL:GQ 0/1:39,31:68:-124.83,-20.51,-114.09:99 -chr1 1593297 rs6699975 G T 40.53 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=6.04;MQ=58.42;MQ0=0;OQ=872.27;QD=15.58;SB=-424.16 GT:AD:DP:GL:GQ 0/1:24,32:48:-104.97,-14.46,-59.27:99 -chr1 1594362 rs36048328 G A 212.33 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=53.76;MQ0=0;OQ=936.15;QD=14.86;SB=-437.40 GT:AD:DP:GL:GQ 0/1:33,30:61:-115.28,-18.38,-109.00:99 -chr1 1595120 rs12736155 A C 482.21 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=48.94;MQ0=1;OQ=857.21;QD=13.61;SB=-454.19 GT:AD:DP:GL:GQ 0/1:31,32:60:-107.08,-18.07,-108.87:99 -chr1 1595458 . A G 4.92 PASS AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=5.30;MQ=27.16;MQ0=16;OQ=685.03;QD=9.01;SB=-336.52 GT:AD:DP:GL:GQ 0/1:42,34:52:-87.45,-15.67,-106.28:99 -chr1 1595935 . C A 13.79 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=13;HaplotypeScore=5.11;MQ=47.25;MQ0=0;QD=0.27;SB=44.14 GT:AD:DP:GL:GQ 0/1:44,8:42:-17.30,-12.66,-119.04:46.44 -chr1 1596150 rs28678861 G C 0.01 FDRtranche2.00to10.00 AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=6;HaplotypeScore=0.16;MQ=35.71;MQ0=1;OQ=1428.28;QD=37.59;SB=-739.75 GT:AD:DP:GL:GQ 1/1:0,38:34:-146.42,-10.25,-0.01:99 -chr1 1596170 rs61776786 G A 218.03 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.46;MQ=33.82;MQ0=1;OQ=367.66;QD=11.86;SB=-172.25 GT:AD:DP:GL:GQ 0/1:17,14:26:-47.89,-7.84,-41.82:99 -chr1 1596393 . A G 1.96 PASS AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=2;HaplotypeScore=1.79;MQ=38.63;MQ0=2;OQ=223.84;QD=8.95;SB=-123.74 GT:AD:DP:GL:GQ 0/1:13,12:22:-32.30,-6.64,-46.25:99 -chr1 1596434 rs61776787 A G 239.06 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.20;MQ=27.74;MQ0=11;OQ=461.68;QD=12.82;SB=-213.08 GT:AD:DP:GL:GQ 1/1:0,36:16:-49.77,-4.83,-0.02:48.10 -chr1 1598092 rs61776790 C T 85.65 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=16.88;MQ0=18;OQ=268.46;QD=6.88;SB=-142.62 GT:AD:DP:GL:GQ 0/1:27,12:20:-36.16,-6.04,-33.65:99 -chr1 1599022 rs12724172 T G 248.35 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=48.86;MQ0=1;OQ=792.00;QD=12.00;SB=-236.82 GT:AD:DP:GL:GQ 0/1:30,36:59:-100.27,-17.78,-99.33:99 -chr1 1599028 rs12757736 A T 344.72 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=49.16;MQ0=1;OQ=842.96;QD=13.82;SB=-342.44 GT:AD:DP:GL:GQ 0/1:27,34:53:-103.55,-15.97,-87.26:99 -chr1 1600387 rs7544851 T C 182.79 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=59.17;MQ0=0;OQ=618.77;QD=11.05;SB=-250.34 GT:AD:DP:GL:GQ 0/1:28,28:48:-79.63,-14.47,-94.46:99 -chr1 1601295 rs6700884 A G 128.62 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=57.79;MQ0=0;OQ=747.49;QD=15.90;SB=-253.32 GT:AD:DP:GL:GQ 0/1:21,26:46:-91.89,-13.86,-83.83:99 -chr1 1601516 rs6695303 T C 234.37 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.59;MQ=57.63;MQ0=0;OQ=837.86;QD=14.45;SB=-344.58 GT:AD:DP:GL:GQ 0/1:27,31:54:-103.34,-16.27,-95.10:99 -chr1 1601858 rs4074196 A G 175.78 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=56.26;MQ0=0;OQ=386.06;QD=8.39;SB=-209.64 GT:AD:DP:GL:GQ 0/1:26,20:39:-53.65,-11.76,-84.70:99 -chr1 1601974 rs4074197 C T 305.80 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.98;MQ0=0;OQ=818.07;QD=17.41;SB=-411.47 GT:AD:DP:GL:GQ 0/1:22,25:46:-98.95,-13.86,-71.35:99 -chr1 1602466 rs4074198 G A 258.82 PASS AC=1;AF=0.50;AN=2;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.07;MQ0=0;OQ=1998.12;QD=19.98;SB=-732.09 GT:AD:DP:GL:GQ 0/1:43,57:99:-232.92,-29.82,-143.69:99 -chr1 1602672 rs4076580 T G 4.32 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=6.99;MQ=58.71;MQ0=0;OQ=379.11;QD=10.53;SB=-115.90 GT:AD:DP:GL:GQ 0/1:20,16:35:-51.74,-10.54,-71.19:99 -chr1 1603230 . C A 105.90 PASS AC=1;AF=0.50;AN=2;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=59.30;MQ0=0;OQ=439.60;QD=13.32;SB=-227.94 GT:AD:DP:GL:GQ 0/1:17,16:31:-56.59,-9.34,-45.91:99 -chr1 1605211 rs7520934 A C 437.30 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=732.80;QD=12.42;SB=-285.83 GT:AD:DP:GL:GQ 0/1:28,31:56:-93.43,-16.87,-99.80:99 -chr1 1605568 rs28774670 T C 204.99 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=58.50;MQ0=0;OQ=582.27;QD=9.87;SB=-203.22 GT:AD:DP:GL:GQ 0/1:33,26:57:-78.69,-17.18,-127.49:99 -chr1 1605610 rs28435953 G C 130.21 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=58.73;MQ0=0;OQ=779.25;QD=14.17;SB=-322.40 GT:AD:DP:GL:GQ 0/1:29,26:52:-96.88,-15.68,-122.76:99 -chr1 1605921 rs28464677 G A 40.24 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=6.09;MQ=58.05;MQ0=1;OQ=855.32;QD=14.50;SB=-377.37 GT:AD:DP:GL:GQ 0/1:31,28:56:-105.70,-16.88,-92.60:99 -chr1 1606119 rs61776792 G C 0.17 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=15.64;MQ=49.02;MQ0=1;OQ=469.22;QD=9.02;SB=-238.10 GT:AD:DP:GL:GQ 0/1:28,21:33:-60.17,-9.96,-72.09:99 -chr1 1606735 . G A 20.16 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=18;HaplotypeScore=5.53;MQ=52.51;MQ0=0;QD=0.29;SB=62.21 GT:AD:DP:GL:GQ 0/1:55,14:41:-17.65,-12.36,-123.60:52.96 -chr1 1607449 rs28736713 T G 133.05 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=2.99;MQ=58.63;MQ0=0;OQ=1023.89;QD=16.00;SB=-507.80 GT:AD:DP:GL:GQ 0/1:29,35:64:-124.95,-19.28,-105.76:99 -chr1 1607623 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=18;HaplotypeScore=7.66;MQ=51.83;MQ0=1;OQ=52.14;QD=1.00;SB=0.53 GT:AD:DP:GL:GQ 0/1:41,11:37:-19.66,-11.16,-103.64:84.98 -chr1 1608184 rs28367203 T C 304.04 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=56.41;MQ0=0;OQ=680.60;QD=12.15;SB=-333.30 GT:AD:DP:GL:GQ 0/1:31,25:55:-87.91,-16.57,-127.27:99 -chr1 1608363 rs28463291 C T 163.50 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1453.08;QD=22.02;SB=-689.01 GT:AD:DP:GL:GQ 0/1:22,44:66:-168.48,-19.89,-77.76:99 -chr1 1608455 rs28366981 A G 89.05 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=1.13;MQ=57.97;MQ0=0;OQ=661.92;QD=12.98;SB=-317.10 GT:AD:DP:GL:GQ 0/1:21,30:45:-83.04,-13.57,-76.52:99 -chr1 1608461 rs28561498 G T 18.93 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=3.73;MQ=57.75;MQ0=0;OQ=745.42;QD=16.20;SB=-317.33 GT:AD:DP:GL:GQ 0/1:20,26:44:-91.08,-13.26,-59.03:99 -chr1 1608538 rs28541555 T G 156.62 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=57.89;MQ0=0;OQ=606.69;QD=12.91;SB=-204.78 GT:AD:DP:GL:GQ 0/1:20,27:44:-77.21,-13.26,-75.77:99 -chr1 1608823 rs4648780 T C 124.64 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=58.99;MQ0=0;OQ=1965.86;QD=28.49;SB=-779.58 GT:AD:DP:GL:GQ 1/1:0,69:63:-200.23,-19.00,-0.06:99 -chr1 1608945 rs7524863 G A 246.35 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=57.51;MQ0=0;OQ=796.58;QD=15.03;SB=-348.35 GT:AD:DP:GL:GQ 0/1:28,25:52:-98.61,-15.67,-100.29:99 -chr1 1609404 rs28487995 G A 270.45 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=56.05;MQ0=0;OQ=943.08;QD=14.97;SB=-428.82 GT:AD:DP:GL:GQ 0/1:34,29:58:-115.07,-17.48,-93.42:99 -chr1 1609630 rs9442411 T C 340.52 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=54.02;MQ0=2;OQ=562.05;QD=9.37;SB=-254.95 GT:AD:DP:GL:GQ 0/1:29,31:53:-75.47,-15.98,-117.16:99 -chr1 1609711 rs61776794 G C 177 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=50.27;MQ0=2;OQ=557.29;QD=11.15;SB=-303.13 GT:AD:DP:GL:GQ 0/1:25,25:40:-71.08,-12.07,-91.96:99 -chr1 1609833 . C T 8.33 PASS AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.64;MQ=46.17;MQ0=4;OQ=546.56;QD=9.42;SB=-24.96 GT:AD:DP:GL:GQ 0/1:34,24:50:-73.01,-15.07,-102.31:99 -chr1 1609872 . T A 2.74 PASS AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=43.11;MQ0=2;OQ=308.49;QD=7.17;SB=35.14 GT:AD:DP:GL:GQ 0/1:26,17:38:-45.58,-11.45,-97.07:99 -chr1 1609888 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=6.91;MQ=43.11;MQ0=0;OQ=145.44;QD=3.93;SB=26.10 GT:AD:DP:GL:GQ 0/1:23,14:31:-27.18,-9.35,-84.75:99 -chr1 1609946 . A G 0.35 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=42.17;MQ0=4;OQ=138.81;QD=3.39;SB=-12.69 GT:AD:DP:GL:GQ 0/1:29,12:37:-28.31,-11.14,-120.75:99 -chr1 1610085 rs61776797 A G 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=4;HaplotypeScore=1.23;MQ=52.83;MQ0=0;OQ=168.50;QD=4.32;SB=29.12 GT:AD:DP:GL:GQ 0/1:29,10:36:-30.98,-10.85,-111.33:99 -chr1 1610720 rs3737622 A G 151.65 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=52.83;MQ0=0;OQ=742.56;QD=16.14;SB=-328.41 GT:AD:DP:GL:GQ 0/1:21,25:45:-91.09,-13.55,-80.03:99 -chr1 1610745 rs3737623 C T 272.53 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=54.47;MQ0=0;OQ=1103.20;QD=18.09;SB=-448.99 GT:AD:DP:GL:GQ 0/1:28,33:59:-131.40,-17.79,-81.29:99 -chr1 1610764 rs3737624 G A 559.02 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.35;MQ0=0;OQ=1181.67;QD=16.88;SB=-410.16 GT:AD:DP:GL:GQ 0/1:34,36:69:-142.24,-20.78,-119.02:99 -chr1 1612040 . T A 0.13 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=3;HaplotypeScore=1.10;MQ=42.64;MQ0=1;OQ=306.88;QD=6.39;SB=17.08 GT:AD:DP:GL:GQ 0/1:34,14:39:-45.73,-11.76,-89.73:99 -chr1 1612676 rs1855706 C T 48.38 PASS AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=18.63;MQ0=42;OQ=747.37;QD=8.59;SB=-370.40 GT:AD:DP:GL:GQ 0/1:52,35:41:-90.38,-12.36,-60.67:99 -chr1 1612716 rs61776798 T C 0.25 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=7.54;MQ0=54;OQ=87.83;QD=1.39;SB=-10.00 GT:AD:DP:GL:GQ 0/1:40,23:6:-13.87,-1.81,-8.21:64.05 -chr1 1613585 rs7542306 C A 20.92 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=2.83;MQ=15.32;MQ0=21;QD=0.67;SB=-10.00 GT:AD:DP:GL:GQ 0/1:18,13:6:-7.18,-1.81,-14.53:53.72 -chr1 1614256 rs368915 T G 26.47 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=20.52;MQ0=9;QD=2.04;SB=-32.98 GT:AD:DP:GL:GQ 1/1:0,13:2:-6.06,-0.60,-0.00:6 -chr1 1614726 rs4648651 G A 96.84 PASS AC=1;AF=0.50;AN=2;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=24.04;MQ0=5;OQ=94.30;QD=5.55;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,5:9:-15.42,-2.71,-17.14:99 -chr1 1615466 rs35947799 G A 107.06 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=52.41;MQ0=0;OQ=601.60;QD=18.23;SB=-258.27 GT:AD:DP:GL:GQ 0/1:13,20:32:-73.09,-9.64,-46.27:99 -chr1 1616758 rs28587348 A G 239 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=22.66;MQ0=5;OQ=648.18;QD=9.53;SB=-227.25 GT:AD:DP:GL:GQ 0/1:39,28:59:-88.06,-19.96,-129.14:99 -chr1 1617046 rs1932228 C T 15.28 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=15.02;MQ0=16;OQ=210.38;QD=4.29;SB=-111.61 GT:AD:DP:GL:GQ 0/1:30,19:14:-28.54,-4.22,-22.09:99 -chr1 1617416 rs61776801 G A 266.02 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=37.27;MQ0=15;OQ=982.95;QD=15.60;SB=-353.39 GT:AD:DP:GL:GQ 0/1:28,35:47:-115.75,-14.17,-56.63:99 -chr1 1617665 rs601141 A C 373.76 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=54.30;MQ0=0;OQ=987.22;QD=15.19;SB=-461.24 GT:AD:DP:GL:GQ 0/1:31,34:63:-120.98,-18.98,-104.99:99 -chr1 1618057 rs61776802 A G 60.56 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=53.96;MQ0=1;OQ=690.37;QD=9.86;SB=-238.28 GT:AD:DP:GL:GQ 0/1:36,33:62:-91.01,-18.69,-134.09:99 -chr1 1618313 rs61776803 G T 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=3;HaplotypeScore=2.46;MQ=39.85;MQ0=11;OQ=285.62;QD=3.97;SB=-133.03 GT:AD:DP:GL:GQ 0/1:51,21:59:-49.62,-17.77,-159.76:99 -chr1 1618571 rs12081891 G A 12.44 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=28.69;MQ0=14;OQ=348.19;QD=5.36;SB=-177.80 GT:AD:DP:GL:GQ 0/1:47,18:38:-49.56,-11.46,-83.32:99 -chr1 1618766 rs61776804 G A 86.02 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=43.94;MQ0=0;OQ=732.16;QD=19.27;SB=-352.49 GT:AD:DP:GL:GQ 0/1:16,22:37:-87.65,-11.15,-51.61:99 -chr1 1619321 rs4648621 G A 136.25 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=27.57;MQ0=5;OQ=508.21;QD=13.37;SB=-144.61 GT:AD:DP:GL:GQ 0/1:18,20:30:-63.15,-9.04,-45.60:99 -chr1 1619347 rs34716550 T C 0.89 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=6.10;MQ=29.73;MQ0=3;OQ=380.00;QD=9.05;SB=-24.63 GT:AD:DP:GL:GQ 0/1:23,19:33:-51.24,-9.95,-72.01:99 -chr1 1624864 rs874516 T C 339.91 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=46.52;MQ0=1;OQ=784.43;QD=15.38;SB=-383.28 GT:AD:DP:GL:GQ 0/1:22,29:49:-96.49,-14.76,-89.37:99 -chr1 1625479 rs2076329 T C 1.54 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=3.63;MQ=58.85;MQ0=0;OQ=346.77;QD=7.08;SB=-173.37 GT:AD:DP:GL:GQ 0/1:30,19:42:-50.63,-12.67,-103.10:99 -chr1 1625609 rs1136997 C A 28.98 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.88;MQ=49.57;MQ0=0;OQ=129.32;QD=4.62;SB=-74.73 GT:AD:DP:GL:GQ 0/1:19,9:24:-23.45,-7.23,-57.11:99 -chr1 1625904 rs1059822 G A 133.74 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=49.02;MQ0=1;OQ=290.88;QD=7.65;SB=-88.57 GT:AD:DP:GL:GQ 0/1:22,16:33:-42.33,-9.95,-69.30:99 -chr1 1626134 rs2179381 C T 246.87 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=42.93;MQ0=0;OQ=354.22;QD=9.84;SB=-190.16 GT:AD:DP:GL:GQ 0/1:22,14:30:-47.74,-9.04,-64.17:99 -chr1 1626190 . G A 71.25 PASS AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=48.48;MQ0=0;OQ=619.32;QD=15.48;SB=-321.82 GT:AD:DP:GL:GQ 0/1:21,19:40:-77.26,-12.05,-77.19:99 -chr1 1627098 rs61774911 A G 6.01 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=36.86;MQ0=3;OQ=57.73;QD=2.14;SB=17.07 GT:AD:DP:GL:GQ 0/1:19,8:19:-14.79,-5.73,-53.94:90.57 -chr1 1627115 rs9439480 A G 25.79 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=40.42;MQ0=0;QD=1.07;SB=26.10 GT:AD:DP:GL:GQ 0/1:18,5:21:-12.19,-6.33,-66.21:58.62 -chr1 1627865 rs17162876 G C 61.32 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=1.72;MQ=50.90;MQ0=0;OQ=596.59;QD=13.56;SB=-287.98 GT:AD:DP:GL:GQ 0/1:25,19:41:-75.32,-12.38,-88.05:99 -chr1 1628397 . C T 6.47 PASS AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.69;MQ=17.03;MQ0=21;OQ=258.72;QD=7.19;SB=-86.31 GT:AD:DP:GL:GQ 0/1:19,17:11:-32.47,-3.31,-10.93:76.22 -chr1 1628516 . G A 0.42 PASS AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=23.14;MQ0=15;OQ=161.97;QD=3.60;SB=-32.64 GT:AD:DP:GL:GQ 0/1:32,13:24:-26.72,-7.23,-54.65:99 -chr1 1629661 . T C 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=34.50;MQ0=9;OQ=82.09;QD=2.22;SB=-48.26 GT:AD:DP:GL:GQ 0/1:21,16:24:-18.73,-7.24,-70.81:99 -chr1 1631887 rs61776845 C T 226.45 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=35.12;MQ0=0;OQ=487.31;QD=34.81;SB=-143.63 GT:AD:DP:GL:GQ 1/1:0,14:14:-52.32,-4.22,-0.01:42.13 -chr1 1633129 rs6688326 C A 4.88 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=11.56;MQ0=25;OQ=150.41;QD=4.30;SB=-10.00 GT:AD:DP:GL:GQ 0/1:25,10:8:-20.73,-2.41,-7.32:49.07 -chr1 1634432 rs2143105 A G 2.04 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=24.63;MQ0=4;OQ=286.53;QD=16.85;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,17:11:-32.26,-3.33,-0.02:33.05 -chr1 1634696 rs2179382 G A 8.71 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=3.64;MQ=32.34;MQ0=16;OQ=279.13;QD=3.58;SB=-95.45 GT:AD:DP:GL:GQ 0/1:61,16:59:-48.98,-17.78,-155.91:99 -chr1 1634768 rs2179383 C T 205.44 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=11.72;MQ0=13;OQ=127.00;QD=6.35;SB=-51.67 GT:AD:DP:GL:GQ 1/1:0,20:4:-16.23,-1.20,-0.00:12.04 -chr1 1634910 . C T 73.11 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=12.98;MQ0=22;OQ=295.97;QD=9.25;SB=-135.01 GT:AD:DP:GL:GQ 1/1:0,32:8:-33.18,-2.41,-0.00:24.08 -chr1 1634953 . C T 62.81 PASS AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=17.86;MQ0=18;OQ=384.85;QD=13.27;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,29:10:-42.07,-3.01,-0.00:30.10 -chr1 1634973 . T C 4.22 PASS AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=19.05;MQ0=18;OQ=118.84;QD=3.71;SB=-10.00 GT:AD:DP:GL:GQ 0/1:22,10:13:-19.08,-3.92,-33.24:99 -chr1 1634975 . C T 14.66 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=19.05;MQ0=18;OQ=504.84;QD=15.78;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,32:13:-54.07,-3.92,-0.00:39.13 -chr1 1635050 rs4279785 T C 293.02 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=22.94;MQ0=12;OQ=364.98;QD=8.90;SB=-161.33 GT:AD:DP:GL:GQ 0/1:23,18:28:-48.21,-8.43,-62.26:99 -chr1 1635547 rs61774919 G A 162.09 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=14.59;MQ0=11;OQ=173.64;QD=7.55;SB=-50.56 GT:AD:DP:GL:GQ 1/1:6,17:5:-20.92,-1.51,-0.00:15.05 -chr1 1635860 rs3819996 T C 34.28 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=13.67;MQ0=7;QD=3.81;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,9:2:-6.84,-0.60,-0.00:6.02 -chr1 1635866 rs3819997 A G 27.83 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=14.50;MQ0=6;QD=3.48;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,8:2:-6.19,-0.60,-0.00:6.01 -chr1 1635934 rs3819998 A G 17.88 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=5.04;MQ=31.93;MQ0=9;OQ=462.29;QD=12.84;SB=-95.99 GT:AD:DP:GL:GQ 0/1:9,27:21:-55.85,-6.34,-11.59:52.52 -chr1 1635937 rs3819999 G T 0.54 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=5.04;MQ=31.93;MQ0=9;OQ=663.10;QD=18.42;SB=-104.11 GT:AD:DP:GL:GQ 0/1:9,26:24:-76.82,-7.23,-11.28:40.49 -chr1 1635973 rs3820000 G C 54.40 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=28.49;MQ0=15;OQ=883.63;QD=21.55;SB=-127.19 GT:AD:DP:GL:GQ 1/1:8,33:25:-95.91,-7.54,-3.96:35.78 -chr1 1636091 rs3820002 T C 108.62 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=27.55;MQ0=2;OQ=418.10;QD=27.87;SB=-161.84 GT:AD:DP:GL:GQ 1/1:0,15:13:-45.40,-3.92,-0.01:39.10 -chr1 1636096 rs61776849 C T 171.23 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=27.06;MQ0=2;OQ=513.34;QD=30.20;SB=-178.68 GT:AD:DP:GL:GQ 1/1:0,17:14:-54.92,-4.22,-0.01:42.13 -chr1 1636231 rs61776850 G T 45.78 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=2.84;MQ=41.85;MQ0=7;OQ=641.89;QD=13.95;SB=-342.30 GT:AD:DP:GL:GQ 0/1:20,26:39:-79.22,-11.75,-58.73:99 -chr1 1636287 rs61776851 T G 219.44 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.65;MQ=36.80;MQ0=8;OQ=1107.10;QD=20.13;SB=-508.74 GT:AD:DP:GL:GQ 1/1:4,51:37:-114.34,-11.16,-0.05:99 -chr1 1636310 rs3820004 G A 84.02 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=34.50;MQ0=11;OQ=1585.10;QD=27.33;SB=-811.33 GT:AD:DP:GL:GQ 1/1:6,52:41:-162.11,-12.35,-0.01:99 -chr1 1636434 rs56030177 T C 84.71 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=28.90;MQ0=10;OQ=1324.64;QD=27.60;SB=-500.48 GT:AD:DP:GL:GQ 1/1:0,48:38:-136.06,-11.45,-0.01:99 -chr1 1636517 rs760926 T C 66.97 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=26.90;MQ0=7;OQ=976.98;QD=25.05;SB=-384.56 GT:AD:DP:GL:GQ 1/1:1,38:28:-101.29,-8.43,-0.01:84.25 -chr1 1636649 rs760927 T C 127.83 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=25.47;MQ0=5;OQ=898.10;QD=25.66;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,35:25:-93.41,-7.53,-0.01:75.22 -chr1 1636735 . C G 66.44 PASS AC=1;AF=0.50;AN=2;DP=98;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=39.28;MQ0=9;OQ=1254.01;QD=12.80;SB=-309.31 GT:AD:DP:GL:GQ 0/1:56,42:83:-153.70,-25.01,-208.71:99 -chr1 1636777 . C T 31.32 PASS AC=1;AF=0.50;AN=2;DP=97;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=38.96;MQ0=9;OQ=1301.14;QD=13.41;SB=-647.75 GT:AD:DP:GL:GQ 0/1:49,48:84:-158.72,-25.32,-141.36:99 -chr1 1636840 rs61776853 A C 1.58 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=3;HaplotypeScore=0.97;MQ=31.48;MQ0=5;OQ=997.06;QD=27.70;SB=-256.95 GT:AD:DP:GL:GQ 1/1:0,36:30:-103.31,-9.04,-0.02:90.22 -chr1 1636845 rs61776854 C T 13.28 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=31.12;MQ0=5;OQ=595.02;QD=17.50;SB=-27.62 GT:AD:DP:GL:GQ 0/1:11,23:28:-71.23,-8.44,-30.58:99 -chr1 1636852 rs35642458 G A 71.80 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=28.10;MQ0=4;OQ=612.21;QD=24.49;SB=-39.52 GT:AD:DP:GL:GQ 0/1:3,22:20:-70.53,-6.02,-10.71:46.85 -chr1 1637044 rs61073446 G A 19.06 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=48.10;MQ0=1;OQ=604.36;QD=8.06;SB=-316.73 GT:AD:DP:GL:GQ 0/1:54,21:68:-84.21,-20.50,-156.95:99 -chr1 1637060 . G C 0.16 PASS AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=1;HaplotypeScore=3.23;MQ=46.92;MQ0=1;OQ=770.35;QD=8.37;SB=83.29 GT:AD:DP:GL:GQ 0/1:66,26:89:-107.18,-26.86,-257.87:99 -chr1 1637092 . A G 13.80 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=45.24;MQ0=3;OQ=524.47;QD=7.09;SB=62.24 GT:AD:DP:GL:GQ 0/1:50,24:71:-77.11,-21.38,-201.71:99 -chr1 1637137 rs4437818 C T 70.80 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.48;MQ=37.21;MQ0=3;OQ=419.91;QD=7.63;SB=-236.03 GT:AD:DP:GL:GQ 0/1:38,17:49:-60.03,-14.76,-127.40:99 -chr1 1637159 rs760928 C T 610.42 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=38.78;MQ0=3;OQ=1773.57;QD=35.47;SB=-891.67 GT:AD:DP:GL:GQ 1/1:0,50:45:-180.95,-13.56,-0.01:99 -chr1 1637161 rs760929 G A 499.31 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=39.49;MQ0=3;OQ=1819.83;QD=36.40;SB=-852.64 GT:AD:DP:GL:GQ 1/1:0,50:45:-185.58,-13.55,-0.01:99 -chr1 1637349 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=1;HaplotypeScore=12.15;MQ=53.21;MQ0=0;OQ=258.06;QD=3.04;SB=74.27 GT:AD:DP:GL:GQ 0/1:68,17:73:-51.13,-22.04,-238.97:99 -chr1 1637350 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=13.99;MQ=53.21;MQ0=0;OQ=156.60;QD=1.84;SB=74.27 GT:AD:DP:GL:GQ 0/1:68,16:78:-42.44,-23.50,-258.99:99 -chr1 1637384 rs760930 C T 155.40 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=57.38;MQ0=0;OQ=2369.71;QD=38.22;SB=-867.02 GT:AD:DP:GL:GQ 1/1:0,62:60:-240.58,-18.08,-0.02:99 -chr1 1637388 rs760931 G C 174.43 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=56.72;MQ0=0;OQ=2115.79;QD=36.48;SB=-781.25 GT:AD:DP:GL:GQ 1/1:0,58:53:-215.20,-15.99,-0.03:99 -chr1 1637546 rs56081394 A C 94.23 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=52.34;MQ0=0;OQ=2774.94;QD=32.65;SB=-1180.71 GT:AD:DP:GL:GQ 1/1:0,85:81:-281.12,-24.40,-0.04:99 -chr1 1637613 . C T 21.89 LowQual AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=3;HaplotypeScore=1.05;MQ=50.67;MQ0=0;QD=0.27;SB=-29.39 GT:AD:DP:GL:GQ 0/1:68,12:72:-27.16,-21.69,-231.62:54.70 -chr1 1637638 . C G 0.51 PASS AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=4.82;MQ=47.75;MQ0=0;OQ=459.74;QD=4.84;SB=-189.88 GT:AD:DP:GL:GQ 0/1:65,30:83:-74.29,-25.03,-272.64:99 -chr1 1637674 . T C 96.11 PASS AC=1;AF=0.50;AN=2;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=45.42;MQ0=0;OQ=794.87;QD=7.87;SB=-336.87 GT:AD:DP:GL:GQ 0/1:55,46:82:-107.47,-24.70,-217.72:99 -chr1 1637731 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=47.58;MQ0=0;OQ=197.23;QD=2.38;SB=-124.83 GT:AD:DP:GL:GQ 0/1:61,22:74:-45.30,-22.29,-250.27:99 -chr1 1637788 rs1883424 A G 452.02 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=50.70;MQ0=0;OQ=1180.37;QD=13.26;SB=-539.57 GT:AD:DP:GL:GQ 0/1:48,41:89:-148.13,-26.81,-196.69:99 -chr1 1637887 rs61776857 T C 8.97 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=37.62;MQ0=3;OQ=1207.11;QD=23.21;SB=-211.69 GT:AD:DP:GL:GQ 1/1:2,49:41:-124.35,-12.38,-0.05:99 -chr1 1638000 . G C 4.04 PASS AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.80;MQ=49.72;MQ0=1;OQ=363.96;QD=6.17;SB=-28.72 GT:AD:DP:GL:GQ 0/1:37,21:48:-56.87,-17.19,-155.52:99 -chr1 1638008 . G C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.80;MQ=51.97;MQ0=1;OQ=62.73;QD=1.08;SB=29.80 GT:AD:DP:GL:GQ 0/1:41,17:44:-22.82,-13.26,-168.23:95.57 -chr1 1638068 rs61776858 C T 414.28 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=53.78;MQ0=0;OQ=1645.34;QD=38.26;SB=-705.35 GT:AD:DP:GL:GQ 1/1:1,42:42:-168.13,-12.65,-0.01:99 -chr1 1638095 rs28722732 A C 115.66 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.09;MQ=48.13;MQ0=1;OQ=1285.24;QD=32.95;SB=-522.05 GT:AD:DP:GL:GQ 1/1:1,38:38:-132.12,-11.45,-0.02:99 -chr1 1638236 . G A 17.91 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=2;HaplotypeScore=8.77;MQ=38.97;MQ0=0;QD=0.34;SB=23.08 GT:AD:DP:GL:GQ 0/1:43,6:25:-15.81,-10.75,-74.55:50.67 -chr1 1638252 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=56.73;MQ=41.68;MQ0=0;OQ=220.25;QD=3.86;SB=17.08 GT:AD:DP:GL:GQ 0/1:43,13:37:-36.47,-11.16,-97.19:99 -chr1 1638265 rs28669101 A G 1.73 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=5.08;MQ=44.94;MQ0=1;OQ=1841.80;QD=27.49;SB=-530.20 GT:AD:DP:GL:GQ 1/1:1,66:52:-187.79,-15.67,-0.02:99 -chr1 1638282 . T C 372.16 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=2;HaplotypeScore=20.32;MQ=48.81;MQ0=1;QD=5.64;SB=53.20 GT:AD:DP:GL:GQ 0/1:48,18:62:-59.18,-18.68,-176.85:99 -chr1 1638285 . G A 362.16 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=0;HaplotypeScore=22.88;MQ=49.05;MQ0=1;QD=5.57;SB=50.16 GT:AD:DP:GL:GQ 0/1:45,17:60:-57.59,-18.09,-158.00:99 -chr1 1638291 . G T 350.74 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=1;HaplotypeScore=36.28;MQ=47.79;MQ0=1;QD=5.48;SB=47.16 GT:AD:DP:GL:GQ 0/1:46,17:57:-55.53,-17.18,-142.31:99 -chr1 1638353 . T C 4.41 PASS AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=49.10;MQ0=0;OQ=579.45;QD=7.24;SB=-118.38 GT:AD:DP:GL:GQ 0/1:52,28:75:-83.82,-22.59,-209.22:99 -chr1 1638397 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=103;Dels=0.02;HRun=4;HaplotypeScore=13.77;MQ=49.39;MQ0=0;OQ=1251.99;QD=12.16;SB=-214.10 GT:AD:DP:GL:GQ 0/1:54,47:95:-156.50,-28.02,-195.84:99 -chr1 1638484 rs61776859 C A 0.46 PASS AC=1;AF=0.50;AN=2;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=3.66;MQ=44.01;MQ0=0;OQ=2573.54;QD=19.06;SB=-1062.18 GT:AD:DP:GL:GQ 0/1:54,81:126:-298.59,-37.95,-167.48:99 -chr1 1638485 . A G 2.65 PASS AC=1;AF=0.50;AN=2;DP=135;Dels=0.00;HRun=0;HaplotypeScore=2.76;MQ=44.20;MQ0=0;OQ=954.08;QD=7.07;SB=27.40 GT:AD:DP:GL:GQ 0/1:81,54:124:-136.06,-37.37,-329.92:99 -chr1 1638496 . A C 4.42 PASS AC=1;AF=0.50;AN=2;DP=136;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=43.37;MQ0=0;OQ=1281.45;QD=9.42;SB=-10.58 GT:AD:DP:GL:GQ 0/1:80,56:126:-169.38,-37.95,-296.59:99 -chr1 1638502 . T C 3.56 PASS AC=1;AF=0.50;AN=2;DP=134;Dels=0.00;HRun=1;HaplotypeScore=2.76;MQ=44.49;MQ0=0;OQ=1373.44;QD=10.25;SB=-79.40 GT:AD:DP:GL:GQ 0/1:76,58:123:-177.67,-37.05,-300.79:99 -chr1 1638544 . C T 171.39 PASS AC=1;AF=0.50;AN=2;DP=138;Dels=0.00;HRun=0;HaplotypeScore=1.29;MQ=48.39;MQ0=0;OQ=1993.39;QD=14.44;SB=-439.97 GT:AD:DP:GL:GQ 0/1:62,76:123:-239.68,-37.06,-213.30:99 -chr1 1638628 . C T 21.95 PASS AC=1;AF=0.50;AN=2;DP=106;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=49.90;MQ0=0;OQ=1604.78;QD=15.14;SB=-725.65 GT:AD:DP:GL:GQ 0/1:52,53:100:-193.90,-30.14,-170.77:99 -chr1 1638640 . A C 22.88 PASS AC=1;AF=0.50;AN=2;DP=101;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=47.54;MQ0=0;OQ=1027.76;QD=10.18;SB=-470.68 GT:AD:DP:GL:GQ 0/1:56,45:93:-134.07,-28.01,-207.58:99 -chr1 1638645 . G C 1.18 PASS AC=1;AF=0.50;AN=2;DP=98;Dels=0.00;HRun=0;HaplotypeScore=6.44;MQ=47.94;MQ0=0;OQ=1189.28;QD=12.14;SB=-604.90 GT:AD:DP:GL:GQ 0/1:56,42:91:-149.63,-27.42,-247.05:99 -chr1 1638691 rs61777460 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=113;Dels=0.00;HRun=1;HaplotypeScore=70.95;MQ=45.55;MQ0=0;OQ=1598.01;QD=14.14;SB=-702.52 GT:AD:DP:GL:GQ 0/1:53,60:107:-195.32,-32.23,-214.62:99 -chr1 1638728 . T A 0.06 PASS AC=1;AF=0.50;AN=2;DP=153;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=48.71;MQ0=0;OQ=2481.89;QD=16.22;SB=-1020.86 GT:AD:DP:GL:GQ 0/1:71,82:150:-296.65,-45.18,-270.24:99 -chr1 1638806 rs909824 T C 0.61 PASS AC=1;AF=0.50;AN=2;DB;DP=154;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=50.30;MQ0=0;OQ=2209.99;QD=14.35;SB=-996.92 GT:AD:DP:GL:GQ 0/1:79,75:150:-269.47,-45.19,-301.46:99 -chr1 1638825 rs61777461 C T 0.09 PASS AC=1;AF=0.50;AN=2;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=2.68;MQ=50.48;MQ0=0;OQ=2137.82;QD=14.95;SB=-1070.06 GT:AD:DP:GL:GQ 0/1:71,72:135:-257.74,-40.67,-255.42:99 -chr1 1638946 . C T 467.64 SnpCluster AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=0;HaplotypeScore=32.37;MQ=43.71;MQ0=5;QD=7.19;SB=-205.68 GT:AD:DP:GL:GQ 0/1:44,21:47:-64.21,-14.16,-108.79:99 -chr1 1638954 . T C 736.34 SnpCluster AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=21.87;MQ=42.89;MQ0=5;QD=12.70;SB=-358.18 GT:AD:DP:GL:GQ 0/1:23,35:42:-89.58,-12.66,-57.09:99 -chr1 1638955 . G A 193.46 SnpCluster AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=28.88;MQ=42.53;MQ0=5;QD=3.39;SB=-66.48 GT:AD:DP:GL:GQ 0/1:44,13:42:-35.29,-12.66,-112.58:99 -chr1 1638965 rs61777464 A G 0.09 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=17.05;MQ=41.40;MQ0=5;OQ=280.02;QD=5.83;SB=-138.25 GT:AD:DP:GL:GQ 0/1:30,18:32:-40.93,-9.64,-84.27:99 -chr1 1638997 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=10.71;MQ=41.45;MQ0=4;OQ=154.17;QD=3.08;SB=35.12 GT:AD:DP:GL:GQ 0/1:37,12:37:-29.85,-11.15,-98.68:99 -chr1 1639030 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=0;HaplotypeScore=25.29;MQ=40.65;MQ0=7;OQ=247.09;QD=2.75;SB=50.20 GT:AD:DP:GL:GQ 0/1:68,21:63:-46.97,-18.98,-193.46:99 -chr1 1639109 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=0;HaplotypeScore=25.12;MQ=46.53;MQ0=4;OQ=115.22;QD=1.05;SB=83.25 GT:AD:DP:GL:GQ 0/1:96,13:84:-40.14,-25.34,-234.06:99 -chr1 1639113 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=0;HaplotypeScore=24.12;MQ=46.66;MQ0=4;OQ=396.71;QD=3.64;SB=8.10 GT:AD:DP:GL:GQ 0/1:82,27:87:-69.20,-26.24,-219.98:99 -chr1 1639145 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=119;Dels=0.00;HRun=1;HaplotypeScore=44.81;MQ=46.42;MQ0=3;OQ=230.67;QD=1.94;SB=-28.38 GT:AD:DP:GL:GQ 0/1:92,27:94:-54.66,-28.31,-297.41:99 -chr1 1639152 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=120;Dels=0.00;HRun=0;HaplotypeScore=23.68;MQ=46.30;MQ0=1;OQ=1088.67;QD=9.07;SB=-62.94 GT:AD:DP:GL:GQ 0/1:69,50:95:-140.79,-28.64,-195.69:99 -chr1 1639166 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=0;HaplotypeScore=19.38;MQ=46.56;MQ0=1;OQ=479.08;QD=3.89;SB=-121.97 GT:AD:DP:GL:GQ 0/1:92,31:101:-81.65,-30.45,-258.17:99 -chr1 1639203 . C T 59.61 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=106;Dels=0.01;HRun=4;HaplotypeScore=28.93;MQ=49.66;MQ0=0;QD=0.56;SB=37.04 GT:AD:DP:GL:GQ 0/1:84,20:85:-34.85,-25.61,-268.94:92.45 -chr1 1639204 . A G 88.80 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=1;HaplotypeScore=34.26;MQ=50.07;MQ0=0;QD=0.81;SB=122.42 GT:AD:DP:GL:GQ 0/1:87,23:90:-39.28,-27.11,-316.10:99 -chr1 1639210 . T G 106.61 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=119;Dels=0.00;HRun=1;HaplotypeScore=109.94;MQ=48.22;MQ0=0;QD=0.90;SB=107.36 GT:AD:DP:GL:GQ 0/1:99,20:91:-41.35,-27.41,-290.49:99 -chr1 1639221 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=127;Dels=0.00;HRun=0;HaplotypeScore=51.18;MQ=48.34;MQ0=0;OQ=110.59;QD=0.87;SB=-36.37 GT:AD:DP:GL:GQ 0/1:109,18:89:-41.16,-26.82,-305.73:99 -chr1 1639227 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=128;Dels=0.00;HRun=3;HaplotypeScore=53.65;MQ=47.85;MQ0=2;OQ=61.26;QD=0.48;SB=63.76 GT:AD:DP:GL:GQ 0/1:90,38:88:-35.92,-26.51,-284.90:94.09 -chr1 1639237 . A T 220.03 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=144;Dels=0.00;HRun=2;HaplotypeScore=39.50;MQ=47.38;MQ0=3;QD=1.53;SB=98.34 GT:AD:DP:GL:GQ 0/1:108,36:102:-56.01,-30.73,-323.39:99 -chr1 1639238 . T C 363.43 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=145;Dels=0.00;HRun=0;HaplotypeScore=40.62;MQ=46.99;MQ0=4;QD=2.51;SB=-35.37 GT:AD:DP:GL:GQ 0/1:115,29:91:-67.04,-27.41,-296.52:99 -chr1 1639239 . T G 307.74 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=148;Dels=0.00;HRun=0;HaplotypeScore=40.46;MQ=46.55;MQ0=5;QD=2.08;SB=5.35 GT:AD:DP:GL:GQ 0/1:110,36:106:-65.98,-31.93,-325.39:99 -chr1 1639244 . C G 433.01 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=151;Dels=0.00;HRun=0;HaplotypeScore=72.81;MQ=46.68;MQ0=6;QD=2.87;SB=-83.32 GT:AD:DP:GL:GQ 0/1:112,37:109:-82.29,-35.70,-402.49:99 -chr1 1639252 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=152;Dels=0.00;HRun=2;HaplotypeScore=45.12;MQ=45.10;MQ0=7;OQ=932.16;QD=6.13;SB=-397.36 GT:AD:DP:GL:GQ 0/1:117,33:103:-127.53,-31.03,-261.51:99 -chr1 1639301 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=98;Dels=0.00;HRun=0;HaplotypeScore=21.56;MQ=40.71;MQ0=20;OQ=622.52;QD=6.35;SB=-215.64 GT:AD:DP:GL:GQ 0/1:52,46:51:-80.90,-15.37,-137.71:99 -chr1 1639318 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=1;HaplotypeScore=38.28;MQ=34.31;MQ0=28;OQ=125.27;QD=1.35;SB=-14.91 GT:AD:DP:GL:GQ 0/1:76,17:35:-26.35,-10.54,-101.55:99 -chr1 1639325 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=5.46;MQ=33.52;MQ0=28;OQ=116.93;QD=1.38;SB=23.07 GT:AD:DP:GL:GQ 0/1:73,12:33:-24.93,-9.95,-86.29:99 -chr1 1639374 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=88;Dels=0.00;HRun=1;HaplotypeScore=20.02;MQ=34.37;MQ0=20;OQ=192.31;QD=2.19;SB=-88.00 GT:AD:DP:GL:GQ 0/1:73,15:45:-36.07,-13.55,-128.18:99 -chr1 1639407 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=112;Dels=0.00;HRun=0;HaplotypeScore=10.99;MQ=42.54;MQ0=9;OQ=114.05;QD=1.02;SB=-8.75 GT:AD:DP:GL:GQ 0/1:85,19:71:-46.36,-31.67,-236.26:99 -chr1 1639417 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=122;Dels=0.00;HRun=4;HaplotypeScore=17.30;MQ=43.78;MQ0=5;OQ=74.87;QD=0.61;SB=-8.76 GT:AD:DP:GL:GQ 0/1:106,16:83:-35.80,-25.03,-240.05:99 -chr1 1639441 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=142;Dels=0.00;HRun=3;HaplotypeScore=5.23;MQ=45.90;MQ0=8;OQ=109.77;QD=0.77;SB=-10.15 GT:AD:DP:GL:GQ 0/1:120,22:103:-45.28,-31.02,-334.31:99 -chr1 1639479 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=120;Dels=0.00;HRun=0;HaplotypeScore=26.42;MQ=48.72;MQ0=12;OQ=76.35;QD=0.64;SB=70.54 GT:AD:DP:GL:GQ 0/1:100,20:90:-38.04,-27.12,-310.60:99 -chr1 1639492 . C T 15.20 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=112;Dels=0.00;HRun=3;HaplotypeScore=52.40;MQ=48.82;MQ0=15;QD=0.14;SB=67.73 GT:AD:DP:GL:GQ 0/1:90,22:79:-28.59,-23.80,-254.17:47.90 -chr1 1639499 rs36141200 G A 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=107;Dels=0.01;HRun=0;HaplotypeScore=32.74;MQ=48.53;MQ0=15;OQ=2982.80;QD=27.88;SB=-1344.29 GT:AD:DP:GL:GQ 1/1:0,106:74:-301.88,-22.29,-0.02:99 -chr1 1639600 rs36135823 C T 0.07 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.00;HRun=3;HaplotypeScore=14.31;MQ=43.93;MQ0=12;OQ=2247.07;QD=26.44;SB=-416.38 GT:AD:DP:GL:GQ 1/1:10,75:60:-232.21,-18.08,-3.91:99 -chr1 1639610 rs34963151 A T 0.17 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=2;HaplotypeScore=15.64;MQ=43.34;MQ0=11;OQ=1936.12;QD=25.14;SB=-344.48 GT:AD:DP:GL:GQ 1/1:5,72:55:-200.25,-16.56,-3.05:99 -chr1 1639612 rs36137888 T G 0.67 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=11.64;MQ=43.34;MQ0=11;OQ=1831.08;QD=23.78;SB=-311.74 GT:AD:DP:GL:GQ 1/1:2,72:55:-190.04,-16.56,-3.35:99 -chr1 1639702 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=132;Dels=0.00;HRun=0;HaplotypeScore=34.54;MQ=35.32;MQ0=37;OQ=98.37;QD=0.75;SB=39.28 GT:AD:DP:GL:GQ 0/1:59,72:53:-29.08,-15.96,-156.59:99 -chr1 1639726 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=141;Dels=0.00;HRun=0;HaplotypeScore=70.45;MQ=36.36;MQ0=39;OQ=52.18;QD=0.37;SB=48.69 GT:AD:DP:GL:GQ 0/1:67,74:65:-28.09,-19.58,-201.69:85.02 -chr1 1639861 . C T 25.55 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=143;Dels=0.00;HRun=0;HaplotypeScore=57.75;MQ=41.48;MQ0=14;QD=0.18;SB=-23.37 GT:AD:DP:GL:GQ 0/1:90,50:90:-32.98,-27.15,-260.27:58.37 -chr1 1639867 . C T 19.37 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=143;Dels=0.00;HRun=3;HaplotypeScore=75.47;MQ=41.18;MQ0=14;QD=0.14;SB=-17.32 GT:AD:DP:GL:GQ 0/1:97,46:92:-32.93,-27.71,-303.81:52.16 -chr1 1639892 rs61777469 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=134;Dels=0.04;HRun=2;HaplotypeScore=74.14;MQ=41.98;MQ0=12;OQ=2469.47;QD=18.43;SB=-1178.56 GT:AD:DP:GL:GQ 0/1:25,104:86:-276.13,-25.90,-32.75:68.49 -chr1 1639893 rs61777470 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=137.24;MQ=41.98;MQ0=12;OQ=2615.52;QD=19.52;SB=-1204.51 GT:AD:DP:GL:GQ 0/1:44,90:89:-291.64,-26.81,-37.18:99 -chr1 1639911 . G A 14.93 LowQual AC=1;AF=0.50;AN=2;DP=119;Dels=0.00;HRun=0;HaplotypeScore=26.42;MQ=45.76;MQ0=10;QD=0.13;SB=-12.75 GT:AD:DP:GL:GQ 0/1:81,37:78:-28.28,-23.52,-231.19:47.63 -chr1 1639962 rs61777471 C T 260.52 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=54.09;MQ0=1;OQ=1805.36;QD=37.61;SB=-829.34 GT:AD:DP:GL:GQ 1/1:0,48:47:-184.14,-14.16,-0.02:99 -chr1 1640060 rs1969650 A C 38.33 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=47.36;MQ0=0;OQ=1283.12;QD=25.66;SB=-659.19 GT:AD:DP:GL:GQ 1/1:0,50:43:-131.95,-12.97,-0.05:99 -chr1 1640123 rs1967676 G T 619.20 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=52.68;MQ0=0;OQ=2013.64;QD=35.33;SB=-938.04 GT:AD:DP:GL:GQ 1/1:0,57:55:-204.96,-16.56,-0.01:99 -chr1 1640270 rs1967677 T C 0.01 FDRtranche2.00to10.00 AC=2;AF=1.00;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=23.68;MQ=51.29;MQ0=1;OQ=2260.88;QD=25.69;SB=-1076.20 GT:AD:DP:GL:GQ 1/1:7,81:78:-241.90,-23.52,-12.23:99 -chr1 1640284 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=0;HaplotypeScore=21.65;MQ=49.80;MQ0=1;OQ=283.77;QD=2.56;SB=107.23 GT:AD:DP:GL:GQ 0/1:95,16:94:-60.00,-28.34,-253.49:99 -chr1 1640321 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=141;Dels=0.00;HRun=0;HaplotypeScore=250.42;MQ=48.13;MQ0=0;OQ=561.76;QD=3.98;SB=122.35 GT:AD:DP:GL:GQ 0/1:98,27:119:-99.13,-39.67,-333.17:99 -chr1 1640332 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=158;Dels=0.00;HRun=0;HaplotypeScore=133.26;MQ=46.63;MQ0=0;OQ=950.96;QD=6.02;SB=119.36 GT:AD:DP:GL:GQ 0/1:94,64:124:-135.74,-37.36,-315.76:99 -chr1 1640347 . T C 550.46 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=148;Dels=0.00;HRun=0;HaplotypeScore=23.57;MQ=45.32;MQ0=0;QD=3.72;SB=95.35 GT:AD:DP:GL:GQ 0/1:118,30:114:-92.67,-34.34,-350.75:99 -chr1 1640368 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=141;Dels=0.00;HRun=1;HaplotypeScore=38.96;MQ=45.47;MQ0=0;OQ=414.73;QD=2.94;SB=65.22 GT:AD:DP:GL:GQ 0/1:119,22:108:-77.29,-32.53,-317.79:99 -chr1 1640378 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=128;Dels=0.00;HRun=4;HaplotypeScore=21.61;MQ=45.56;MQ0=0;OQ=227.10;QD=1.77;SB=59.14 GT:AD:DP:GL:GQ 0/1:110,18:98:-55.53,-29.53,-284.49:99 -chr1 1640389 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=120;Dels=0.00;HRun=0;HaplotypeScore=23.69;MQ=45.00;MQ0=0;OQ=372.62;QD=3.11;SB=38.14 GT:AD:DP:GL:GQ 0/1:83,37:73:-62.56,-22.01,-186.44:99 -chr1 1640393 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=116;Dels=0.00;HRun=0;HaplotypeScore=31.49;MQ=46.43;MQ0=0;OQ=193.70;QD=1.67;SB=47.18 GT:AD:DP:GL:GQ 0/1:63,52:78:-46.16,-23.50,-255.92:99 -chr1 1640402 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=107;Dels=0.00;HRun=3;HaplotypeScore=44.61;MQ=47.57;MQ0=0;OQ=589.53;QD=5.51;SB=47.18 GT:AD:DP:GL:GQ 0/1:71,36:90:-89.34,-27.11,-243.28:99 -chr1 1640405 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=1;HaplotypeScore=32.67;MQ=47.67;MQ0=0;OQ=576.56;QD=5.54;SB=44.17 GT:AD:DP:GL:GQ 0/1:79,25:85:-86.54,-25.60,-227.82:99 -chr1 1640428 . C T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=1;HaplotypeScore=12.31;MQ=51.68;MQ0=0;OQ=687.66;QD=7.47;SB=59.21 GT:AD:DP:GL:GQ 0/1:63,29:86:-97.95,-25.90,-226.28:99 -chr1 1640435 . T C 0.39 PASS AC=1;AF=0.50;AN=2;DP=97;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=52.41;MQ0=0;OQ=479.95;QD=4.95;SB=65.24 GT:AD:DP:GL:GQ 0/1:69,28:91:-78.69,-27.41,-274.97:99 -chr1 1640479 . C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=102;Dels=0.00;HRun=0;HaplotypeScore=10.56;MQ=53.01;MQ0=0;OQ=125.57;QD=1.23;SB=55.33 GT:AD:DP:GL:GQ 0/1:77,25:89:-42.65,-26.81,-277.44:99 -chr1 1640500 . C A 40.46 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=96;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=52.43;MQ0=0;QD=0.42;SB=79.01 GT:AD:DP:GL:GQ 0/1:71,25:78:-30.82,-23.49,-254.06:73.30 -chr1 1640502 . T G 39.38 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=99;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=52.41;MQ0=0;QD=0.40;SB=58.40 GT:AD:DP:GL:GQ 0/1:73,26:82:-31.92,-24.69,-274.53:72.21 -chr1 1640517 . C G 1.85 PASS AC=1;AF=0.50;AN=2;DP=119;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=50.82;MQ0=0;OQ=540.14;QD=4.54;SB=-210.84 GT:AD:DP:GL:GQ 0/1:81,38:99:-87.13,-29.83,-340.31:99 -chr1 1640647 rs17845218 T C 5.93 PASS AC=1;AF=0.50;AN=2;DB;DP=139;Dels=0.00;HRun=0;HaplotypeScore=1.76;MQ=46.16;MQ0=1;OQ=829.41;QD=5.97;SB=-392.09 GT:AD:DP:GL:GQ 0/1:85,54:124:-123.60,-37.37,-339.83:99 -chr1 1640657 rs1059830 A G 689.07 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=136;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=46.01;MQ0=1;QD=5.07;SB=-273.97 GT:AD:DP:GL:GQ 0/1:84,52:114:-106.55,-34.36,-315.05:99 -chr1 1640661 rs1137004 T C 924.56 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=137;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=45.08;MQ0=1;QD=6.75;SB=-478.80 GT:AD:DP:GL:GQ 0/1:82,55:116:-130.68,-34.94,-330.64:99 -chr1 1640667 rs3200657 T C 2206.14 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=133;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=43.98;MQ0=1;QD=16.59;SB=-708.39 GT:AD:DP:GL:GQ 0/1:59,73:112:-259.82,-35.92,-162.90:99 -chr1 1640692 . A G 15.57 PASS AC=1;AF=0.50;AN=2;DP=127;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=41.55;MQ0=0;OQ=1129.49;QD=8.89;SB=-491.78 GT:AD:DP:GL:GQ 0/1:59,68:99:-146.06,-29.83,-231.81:99 -chr1 1640705 rs1059831 G A 307.80 PASS AC=1;AF=0.50;AN=2;DB;DP=118;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=41.79;MQ0=0;OQ=1854.51;QD=15.72;SB=-686.99 GT:AD:DP:GL:GQ 0/1:63,55:86:-214.65,-25.92,-105.31:99 -chr1 1640780 rs36191908 G A 2.57 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=50.84;MQ0=0;OQ=222.00;QD=2.52;SB=-69.38 GT:AD:DP:GL:GQ 0/1:66,22:78:-49.00,-23.51,-215.31:99 -chr1 1640799 . G A 26.24 LowQual AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=54.16;MQ0=0;QD=0.29;SB=-18.77 GT:AD:DP:GL:GQ 0/1:79,12:87:-32.13,-26.22,-265.70:59.07 -chr1 1640856 . T C 1.18 PASS AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=0;HaplotypeScore=1.67;MQ=51.06;MQ0=0;OQ=537.04;QD=4.84;SB=42.60 GT:AD:DP:GL:GQ 0/1:73,38:93:-85.00,-28.02,-284.38:99 -chr1 1640863 . G A 0.15 PASS AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=2;HaplotypeScore=0.93;MQ=50.41;MQ0=0;OQ=682.37;QD=6.20;SB=40.52 GT:AD:DP:GL:GQ 0/1:69,41:93:-99.55,-28.03,-223.44:99 -chr1 1640907 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=91;Dels=0.01;HRun=2;HaplotypeScore=10.49;MQ=48.20;MQ0=0;OQ=731.52;QD=8.04;SB=71.23 GT:AD:DP:GL:GQ 0/1:53,37:73:-98.42,-21.99,-174.07:99 -chr1 1640923 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=0;HaplotypeScore=64.78;MQ=43.84;MQ0=1;OQ=272.78;QD=3.17;SB=56.20 GT:AD:DP:GL:GQ 0/1:67,19:80:-54.67,-24.11,-250.01:99 -chr1 1640931 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=98.55;MQ=40.13;MQ0=1;OQ=147.14;QD=2.16;SB=38.15 GT:AD:DP:GL:GQ 0/1:57,11:64:-37.28,-19.28,-217.64:99 -chr1 1640986 . A C 0.64 PASS AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.69;MQ=43.40;MQ0=0;OQ=371.72;QD=5.81;SB=77.22 GT:AD:DP:GL:GQ 0/1:47,17:62:-59.13,-18.68,-158.05:99 -chr1 1640996 . C T 0.49 PASS AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=45.56;MQ0=0;OQ=291.78;QD=4.63;SB=80.17 GT:AD:DP:GL:GQ 0/1:49,14:56:-49.34,-16.88,-145.60:99 -chr1 1641016 . C T 53.74 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=51.28;MQ0=0;QD=0.87;SB=74.21 GT:AD:DP:GL:GQ 0/1:47,15:50:-23.72,-15.06,-152.06:86.58 -chr1 1641017 . A G 257.15 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=51.43;MQ0=0;QD=4.08;SB=80.28 GT:AD:DP:GL:GQ 0/1:48,15:61:-47.39,-18.39,-179.46:99 -chr1 1641026 . C T 369.95 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=52.99;MQ0=0;QD=5.97;SB=74.25 GT:AD:DP:GL:GQ 0/1:47,15:60:-58.35,-18.07,-168.55:99 -chr1 1641040 . G C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=2;HaplotypeScore=2.80;MQ=51.94;MQ0=0;OQ=253.54;QD=4.23;SB=74.26 GT:AD:DP:GL:GQ 0/1:44,15:55:-45.26,-16.62,-168.61:99 -chr1 1641126 rs12137617 A G 24.87 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=2.12;MQ=54.87;MQ0=0;OQ=1275.18;QD=31.10;SB=-536.43 GT:AD:DP:GL:GQ 1/1:0,41:37:-131.12,-11.15,-0.02:99 -chr1 1641482 rs11260627 C T 34.89 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.92;MQ=55.33;MQ0=0;OQ=1435.98;QD=36.82;SB=-496.00 GT:AD:DP:GL:GQ 1/1:0,39:37:-147.19,-11.15,-0.01:99 -chr1 1641491 rs12135951 T G 20.84 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.70;MQ=56.50;MQ0=0;OQ=197.57;QD=5.20;SB=-66.56 GT:AD:DP:GL:GQ 0/1:25,13:35:-33.59,-10.55,-90.46:99 -chr1 1641587 rs12044811 G A 0.08 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=15.92;MQ=55.20;MQ0=1;OQ=1462.24;QD=35.66;SB=-578.76 GT:AD:DP:GL:GQ 1/1:1,40:37:-149.82,-11.15,-0.01:99 -chr1 1641608 rs12044814 G C 398.84 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.85;MQ0=0;OQ=998.26;QD=30.25;SB=-358.22 GT:AD:DP:GL:GQ 1/1:1,32:26:-103.43,-7.84,-0.02:78.25 -chr1 1641675 rs4648768 T C 52.50 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.85;MQ=49.39;MQ0=0;OQ=640.24;QD=18.29;SB=-205.57 GT:AD:DP:GL:GQ 1/1:0,32:21:-67.63,-6.34,-0.02:63.13 -chr1 1641761 rs4648772 T C 503.17 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.21;MQ0=0;OQ=1369.78;QD=30.44;SB=-625.00 GT:AD:DP:GL:GQ 1/1:0,45:43:-140.60,-12.97,-0.03:99 -chr1 1641771 rs4648773 C A 18.84 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=2.41;MQ=54.78;MQ0=0;OQ=1559.28;QD=33.90;SB=-751.90 GT:AD:DP:GL:GQ 1/1:0,46:44:-159.53,-13.25,-0.02:99 -chr1 1641797 rs4648775 G A 91.99 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=54.06;MQ0=0;OQ=1591.86;QD=36.18;SB=-734.99 GT:AD:DP:GL:GQ 1/1:0,44:41:-162.79,-12.35,-0.01:99 -chr1 1641822 rs4648776 G A 529.47 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.06;MQ0=0;OQ=1730.65;QD=38.46;SB=-774.66 GT:AD:DP:GL:GQ 1/1:0,45:44:-176.66,-13.26,-0.01:99 -chr1 1642086 rs4648777 A G 238.91 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.56;MQ0=1;OQ=1172.89;QD=24.44;SB=-406.15 GT:AD:DP:GL:GQ 1/1:1,47:39:-120.92,-11.77,-0.04:99 -chr1 1642864 rs36039898 T C 113.78 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=54.55;MQ0=0;OQ=2211.83;QD=36.26;SB=-727.29 GT:AD:DP:GL:GQ 1/1:0,61:61:-224.79,-18.37,-0.02:99 -chr1 1642888 rs16825265 C T 105.46 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=54.90;MQ0=0;OQ=2464.17;QD=40.40;SB=-985.30 GT:AD:DP:GL:GQ 1/1:0,61:61:-250.01,-18.37,-0.01:99 -chr1 1643163 rs35548050 T C 620.20 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.02;MQ0=0;OQ=2383.87;QD=34.06;SB=-1115.83 GT:AD:DP:GL:GQ 1/1:0,70:67:-241.99,-20.18,-0.02:99 -chr1 1643221 rs2206307 C T 629.97 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.40;MQ0=0;OQ=2196.71;QD=34.87;SB=-1116.03 GT:AD:DP:GL:GQ 1/1:0,63:57:-223.28,-17.18,-0.02:99 -chr1 1643274 rs2206308 C T 615.08 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.68;MQ0=0;OQ=2077.20;QD=37.77;SB=-1010.04 GT:AD:DP:GL:GQ 1/1:0,55:53:-211.32,-15.97,-0.02:99 -chr1 1643659 rs2223485 C T 454.72 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=38.70;MQ0=1;OQ=1724.40;QD=36.69;SB=-535.21 GT:AD:DP:GL:GQ 1/1:0,47:43:-176.03,-12.95,-0.01:99 -chr1 1643745 rs61777493 C A 268.51 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=53.15;MQ0=3;OQ=2449.58;QD=34.50;SB=-1240.29 GT:AD:DP:GL:GQ 1/1:3,68:66:-248.56,-19.87,-0.01:99 -chr1 1643867 . A T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=28;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=19.40;MQ0=14;OQ=84.98;QD=3.04;SB=-10.00 GT:AD:DP:GL:GQ 0/1:13,15:12:-15.40,-3.61,-30.71:99 -chr1 1643873 . C G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=27;Dels=0.41;HRun=0;HaplotypeScore=83.92;MQ=18.34;MQ0=14;OQ=350.65;QD=12.99;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,15:10:-42.29,-6.54,-3.64:28.97 -chr1 1643898 rs61777494 G A 157 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=25.17;MQ0=2;OQ=461.81;QD=27.17;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,16:12:-49.77,-3.61,-0.00:36.12 -chr1 1643918 rs61777495 C T 757.85 Indel AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=35.37;MQ0=1;QD=31.58;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,23:19:-79.37,-5.72,-0.00:57.19 -chr1 1643924 . A T 950.73 Indel AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=43.62;MQ0=1;QD=30.67;SB=-180.94 GT:AD:DP:GL:GQ 1/1:1,30:26:-98.67,-7.83,-0.01:78.24 -chr1 1644591 rs61777496 G A 138.94 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=33.34;MQ0=0;OQ=130.88;QD=26.18;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,5:4:-16.62,-1.20,-0.00:12.04 -chr1 1644813 rs2056977 A G 170.73 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=26.65;MQ0=9;OQ=292.06;QD=7.69;SB=-147.83 GT:AD:DP:GL:GQ 1/1:7,31:10:-32.80,-3.01,-0.01:30.08 -chr1 1645334 rs11486024 G A 35.89 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=22.46;MQ0=10;OQ=345.89;QD=5.67;SB=32.11 GT:AD:DP:GL:GQ 0/1:46,15:32:-47.52,-9.65,-66.64:99 -chr1 1645788 rs28649027 G C 26.17 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=2.58;MQ=53.44;MQ0=0;OQ=593.92;QD=15.23;SB=-280.31 GT:AD:DP:GL:GQ 0/1:20,19:36:-73.54,-10.87,-73.49:99 -chr1 1646881 rs61777497 T C 0.39 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=11.68;MQ0=43;OQ=71.62;QD=1.23;SB=-32.65 GT:AD:DP:GL:GQ 0/1:40,18:10:-13.46,-3.01,-23.67:99 -chr1 1646928 . C T 0.40 PASS AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=15.38;MQ0=21;OQ=97.42;QD=2.87;SB=-39.65 GT:AD:DP:GL:GQ 0/1:20,14:7:-15.13,-2.11,-10.71:85.98 -chr1 1646938 rs61776763 A G 17.48 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=2.10;MQ=17.28;MQ0=15;OQ=266.90;QD=8.34;SB=-88.98 GT:AD:DP:GL:GQ 1/1:0,32:9:-30.28,-2.71,-0.01:27.04 -chr1 1646996 rs4648783 T C 206.37 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=31.62;MQ0=1;OQ=494.82;QD=9.00;SB=-214.36 GT:AD:DP:GL:GQ 0/1:25,30:43:-65.73,-12.96,-90.44:99 -chr1 1647044 rs4648784 C G 2.96 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=1.82;MQ=32.49;MQ0=8;OQ=1818.45;QD=23.93;SB=-827.04 GT:AD:DP:GL:GQ 0/1:14,62:58:-202.62,-17.49,-37.52:99 -chr1 1647352 rs9439501 G C 210.43 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=45.38;MQ0=4;OQ=1643.24;QD=34.96;SB=-614.99 GT:AD:DP:GL:GQ 1/1:0,47:39:-167.92,-11.75,-0.01:99 -chr1 1647425 rs11576302 G A 125.25 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=52.45;MQ0=0;OQ=868.24;QD=17.72;SB=-259.77 GT:AD:DP:GL:GQ 0/1:23,26:49:-104.87,-14.76,-83.38:99 -chr1 1647461 rs11589282 T C 44.46 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=0.94;MQ=51.71;MQ0=1;OQ=1927.78;QD=33.24;SB=-715.12 GT:AD:DP:GL:GQ 1/1:0,58:56:-196.39,-16.87,-0.02:99 -chr1 1648203 rs4648785 T C 8.14 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=3.12;MQ=39.29;MQ0=4;OQ=1376.56;QD=30.59;SB=-396.50 GT:AD:DP:GL:GQ 1/1:0,45:38:-141.25,-11.44,-0.01:99 -chr1 1648805 rs1062057 T C 6.42 PASS AC=1;AF=0.50;AN=2;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=3.69;MQ=25.80;MQ0=25;OQ=1469.54;QD=13.86;SB=-734.60 GT:AD:DP:GL:GQ 0/1:45,61:78:-173.74,-23.50,-116.68:99 -chr1 1649970 rs1801781 C A 600.71 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.53;MQ0=0;OQ=2075.47;QD=36.41;SB=-874.83 GT:AD:DP:GL:GQ 1/1:0,57:57:-211.15,-17.17,-0.01:99 -chr1 1650495 rs2377220 T G 497.64 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=28.20;MQ0=1;OQ=1908.80;QD=31.81;SB=-547.03 GT:AD:DP:GL:GQ 1/1:0,60:54:-194.48,-16.27,-0.02:99 -chr1 1650579 . G C 24.29 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=1;HaplotypeScore=9.52;MQ=48.11;MQ0=12;QD=0.34;SB=80.30 GT:AD:DP:GL:GQ 0/1:60,12:43:-18.68,-12.97,-167.36:57.11 -chr1 1650586 rs28662997 T C 0.09 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=7.30;MQ=48.54;MQ0=13;OQ=175.02;QD=2.22;SB=-47.44 GT:AD:DP:GL:GQ 0/1:53,26:60:-38.86,-18.08,-194.29:99 -chr1 1650595 rs1061883 T C 0.11 PASS AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=3.64;MQ=49.38;MQ0=13;OQ=60.20;QD=0.69;SB=-8.74 GT:AD:DP:GL:GQ 0/1:58,29:65:-28.90,-19.59,-216.78:93.04 -chr1 1651158 rs1546882 A G 91.08 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=2;HaplotypeScore=1.86;MQ=36.24;MQ0=1;OQ=1126.99;QD=14.09;SB=-474.67 GT:AD:DP:GL:GQ 0/1:32,48:73:-138.00,-22.01,-116.79:99 -chr1 1651704 rs61777505 G C 26.06 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.62;MQ=32.64;MQ0=2;OQ=1226.35;QD=32.27;SB=-479.52 GT:AD:DP:GL:GQ 1/1:4,34:33:-134.22,-9.95,-8.01:19.39 -chr1 1652175 . C G 107.65 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=35.31;MQ0=18;OQ=446.15;QD=8.42;SB=-112.32 GT:AD:DP:GL:GQ 0/1:32,21:35:-58.45,-10.56,-85.98:99 -chr1 1652288 rs2281171 A G 55.47 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.68;MQ=47.07;MQ0=0;OQ=1046.84;QD=33.77;SB=-483.46 GT:AD:DP:GL:GQ 1/1:0,31:31:-108.28,-9.34,-0.01:93.26 -chr1 1652674 rs61777506 T C 260.73 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=54.10;MQ0=0;OQ=1515.24;QD=32.94;SB=-289.56 GT:AD:DP:GL:GQ 1/1:0,46:45:-155.13,-13.56,-0.02:99 -chr1 1652697 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=17;HaplotypeScore=26.60;MQ=53.41;MQ0=0;OQ=216.45;QD=3.80;SB=47.16 GT:AD:DP:GL:GQ 0/1:42,15:40:-36.99,-12.06,-92.34:99 -chr1 1652700 . G A 48.19 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=2;HaplotypeScore=19.75;MQ=52.95;MQ0=0;QD=0.96;SB=53.18 GT:AD:DP:GL:GQ 0/1:40,10:33:-18.05,-9.95,-95.61:81.03 -chr1 1652755 rs61777507 A G 615.92 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.03;MQ0=0;OQ=1969.12;QD=34.55;SB=-927.86 GT:AD:DP:GL:GQ 1/1:0,57:57:-200.52,-17.17,-0.03:99 -chr1 1653262 rs34298494 A C 3.15 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=4.92;MQ=57.93;MQ0=0;OQ=1820.14;QD=28.89;SB=-933.22 GT:AD:DP:GL:GQ 1/1:0,63:59:-185.65,-17.78,-0.05:99 -chr1 1653465 . A G 0.67 PASS AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;HRun=3;HaplotypeScore=0.82;MQ=58.69;MQ0=0;OQ=1218.77;QD=28.34;SB=-585.02 GT:AD:DP:GL:GQ 1/1:0,43:39:-125.50,-11.76,-0.03:99 -chr1 1653691 rs3817856 C T 262.98 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=59.21;MQ0=0;OQ=2006.29;QD=37.85;SB=-990.80 GT:AD:DP:GL:GQ 1/1:0,53:51:-204.23,-15.37,-0.02:99 -chr1 1653879 rs2294488 T C 118.63 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=52.10;MQ0=0;OQ=1419.75;QD=28.40;SB=-681.96 GT:AD:DP:GL:GQ 1/1:0,49:45:-145.60,-13.57,-0.04:99 -chr1 1653984 rs2294489 T C 14.56 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=3;HaplotypeScore=0.63;MQ=58.58;MQ0=0;OQ=1353.88;QD=31.49;SB=-691.09 GT:AD:DP:GL:GQ 1/1:0,43:40:-138.99,-12.05,-0.02:99 -chr1 1655431 rs61777508 T G 492.95 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=52.47;MQ0=3;OQ=2585.92;QD=31.92;SB=-532.88 GT:AD:DP:GL:GQ 1/1:0,81:75:-262.21,-22.59,-0.04:99 -chr1 1655473 rs4648764 A G 513.83 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=50.46;MQ0=4;OQ=2874.97;QD=29.64;SB=-827.61 GT:AD:DP:GL:GQ 1/1:1,96:86:-291.13,-25.92,-0.05:99 -chr1 1655600 rs2281176 T C 43.16 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=43.78;MQ0=0;OQ=2374.61;QD=30.44;SB=-588.04 GT:AD:DP:GL:GQ 1/1:0,78:71:-241.09,-21.40,-0.04:99 -chr1 1655607 rs2281177 T C 16.19 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=43.12;MQ0=0;OQ=1801.45;QD=22.24;SB=-550.84 GT:AD:DP:GL:GQ 0/1:17,64:75:-206.03,-22.60,-57.34:99 -chr1 1656111 . G A 19.94 PASS AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=24.98;MQ0=9;OQ=1269.10;QD=20.14;SB=-363.89 GT:AD:DP:GL:GQ 0/1:20,43:51:-145.56,-15.37,-46.93:99 -chr1 1656198 rs2072924 G A 130.85 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=-0.06;MQ=29.23;MQ0=3;OQ=1510.31;QD=34.33;SB=-636.84 GT:AD:DP:GL:GQ 1/1:0,44:39:-154.63,-11.75,-0.02:99 -chr1 1656202 rs2072925 A G 35.86 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=31.20;MQ0=3;OQ=1130.90;QD=24.58;SB=-545.87 GT:AD:DP:GL:GQ 1/1:0,46:37:-116.71,-11.16,-0.04:99 -chr1 1656475 rs2076325 C T 114.33 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=50.53;MQ0=0;OQ=1787.32;QD=37.24;SB=-867.16 GT:AD:DP:GL:GQ 1/1:0,48:46:-182.33,-13.86,-0.01:99 -chr1 1657113 rs1474648 T C 589.09 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=48.20;MQ0=0;OQ=2447.49;QD=32.63;SB=-1145.82 GT:AD:DP:GL:GQ 1/1:0,75:68:-248.35,-20.48,-0.02:99 -chr1 1657231 rs1474649 A G 31.11 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=49.42;MQ0=0;OQ=1497.15;QD=33.27;SB=-642.31 GT:AD:DP:GL:GQ 1/1:0,45:43:-153.31,-12.95,-0.02:99 -chr1 1657279 rs2377208 A C 135.92 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=44.04;MQ0=1;OQ=1645.48;QD=30.47;SB=-668.23 GT:AD:DP:GL:GQ 1/1:0,54:48:-168.15,-14.46,-0.02:99 -chr1 1658028 rs28718827 G T 1.42 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=10.14;MQ=51.62;MQ0=0;OQ=1872.10;QD=31.73;SB=-828.68 GT:AD:DP:GL:GQ 1/1:2,57:55:-190.82,-16.57,-0.03:99 -chr1 1658119 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=69;Dels=0.03;HRun=18;HaplotypeScore=24.79;MQ=51.46;MQ0=0;OQ=102.87;QD=1.49;SB=-23.99 GT:AD:DP:GL:GQ 0/1:55,12:49:-28.05,-14.47,-131.71:99 -chr1 1658135 rs2889577 A G 0.64 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=15.54;MQ=53.86;MQ0=0;OQ=1611.78;QD=21.78;SB=-529.45 GT:AD:DP:GL:GQ 1/1:8,66:53:-172.54,-15.98,-7.77:82.05 -chr1 1658803 rs28537345 A C 60.48 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.02;HRun=1;HaplotypeScore=0.16;MQ=51.80;MQ0=0;OQ=1884.76;QD=31.95;SB=-820.50 GT:AD:DP:GL:GQ 1/1:0,58:56:-192.08,-16.57,-0.02:99 -chr1 1659088 rs11485870 T C 2.06 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=5.25;MQ=48.74;MQ0=0;OQ=1314.03;QD=25.77;SB=-582.00 GT:AD:DP:GL:GQ 1/1:2,49:46:-142.54,-13.87,-7.55:63.21 -chr1 1659426 rs9442408 C T 56.19 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=38.94;MQ0=1;OQ=469.40;QD=7.96;SB=-62.79 GT:AD:DP:GL:GQ 0/1:41,18:57:-67.39,-17.17,-141.22:99 -chr1 1659594 rs61777512 G T 329.49 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=48.52;MQ0=1;OQ=761.00;QD=27.18;SB=-349.52 GT:AD:DP:GL:GQ 1/1:2,26:23:-79.70,-6.93,-0.01:69.17 -chr1 1659896 . C A 16.91 PASS AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=18.32;MQ0=25;OQ=324.85;QD=7.55;SB=-33.35 GT:AD:DP:GL:GQ 0/1:14,29:14:-39.99,-4.22,-11.38:71.59 -chr1 1659905 . C T 19.49 PASS AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=18.62;MQ0=24;OQ=356.25;QD=8.28;SB=-31.52 GT:AD:DP:GL:GQ 0/1:14,29:15:-43.43,-4.52,-12.58:80.58 -chr1 1661214 rs2005995 G A 408.17 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=11.78;MQ0=23;OQ=327.72;QD=9.93;SB=-165.22 GT:AD:DP:GL:GQ 1/1:16,17:9:-36.36,-2.71,-0.00:27.09 -chr1 1661590 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=1;HaplotypeScore=3.96;MQ=36.56;MQ0=3;OQ=54.36;QD=1.05;SB=68.26 GT:AD:DP:GL:GQ 0/1:38,14:35:-19.28,-10.56,-129.90:87.20 -chr1 1661642 rs4648793 C T 457.64 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=45.04;MQ0=0;OQ=1470.76;QD=37.71;SB=-587.27 GT:AD:DP:GL:GQ 1/1:0,39:38:-150.68,-11.45,-0.01:99 -chr1 1661726 rs7364986 A T 4.25 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=5.15;MQ=47.34;MQ0=1;OQ=2656.76;QD=33.63;SB=-1106.52 GT:AD:DP:GL:GQ 1/1:0,79:72:-269.28,-21.69,-0.02:99 -chr1 1662002 . C T 0.16 PASS AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=5.72;MQ=52.52;MQ0=1;OQ=1857.08;QD=37.14;SB=-705.36 GT:AD:DP:GL:GQ 1/1:0,50:47:-189.31,-14.16,-0.02:99 -chr1 1662772 . C T 43.11 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=50.80;MQ0=2;QD=0.70;SB=83.20 GT:AD:DP:GL:GQ 0/1:53,9:53:-23.58,-15.98,-150.38:75.94 -chr1 1663032 . T C 46.58 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.24;MQ=53.54;MQ0=2;QD=0.93;SB=38.12 GT:AD:DP:GL:GQ 0/1:38,9:34:-18.20,-10.26,-102.10:79.41 -chr1 1663379 rs35790103 T C 8.23 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=-0.24;MQ=57.22;MQ0=0;OQ=1409.71;QD=33.56;SB=-634.30 GT:AD:DP:GL:GQ 1/1:0,42:41:-144.58,-12.35,-0.02:99 -chr1 1663767 rs35678883 G C 8.07 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=50.72;MQ0=2;OQ=2425.38;QD=39.12;SB=-647.42 GT:AD:DP:GL:GQ 1/1:0,62:56:-246.15,-16.88,-0.03:99 -chr1 1663886 rs36050429 G C 377.70 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.29;MQ0=3;OQ=1259.11;QD=34.03;SB=-328.71 GT:AD:DP:GL:GQ 1/1:0,37:30:-129.51,-9.04,-0.01:90.30 -chr1 1664767 . G C 282.90 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.97;MQ0=0;OQ=606.08;QD=13.77;SB=-320.01 GT:AD:DP:GL:GQ 0/1:24,20:40:-75.96,-12.06,-88.71:99 -chr1 1664855 . A G 129.97 Indel AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=1;HaplotypeScore=9.28;MQ=43.11;MQ0=1;QD=4.06;SB=-24.89 GT:AD:DP:GL:GQ 0/1:24,8:26:-24.12,-7.84,-71.93:99 -chr1 1664856 . G A 433.28 Indel AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=12;HaplotypeScore=9.83;MQ=42.77;MQ0=1;QD=12.74;SB=-25.59 GT:AD:DP:GL:GQ 0/1:18,16:29:-55.35,-8.74,-47.19:99 -chr1 1665027 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=13;HaplotypeScore=3.74;MQ=53.18;MQ0=0;OQ=78.07;QD=1.28;SB=0.76 GT:AD:DP:GL:GQ 0/1:47,14:45:-24.65,-13.56,-131.48:99 -chr1 1665395 . C T 17.70 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=3.53;MQ=22.06;MQ0=30;QD=0.34;SB=14.07 GT:AD:DP:GL:GQ 0/1:42,10:21:-11.37,-6.32,-66.25:50.46 -chr1 1667416 rs16824474 G C 10.38 LowQual AC=1;AF=0.50;AN=2;DB;DP=17;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=47.86;MQ0=3;QD=0.61;SB=-0.97 GT:AD:DP:GL:GQ 0/1:12,5:14:-8.50,-4.22,-50.97:42.79 -chr1 1670869 . G C 14.33 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=45.06;MQ0=4;QD=0.19;SB=74.28 GT:AD:DP:GL:GQ 0/1:64,12:62:-23.39,-18.69,-239.55:47 -chr1 1670881 . G C 19.24 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=0;HaplotypeScore=4.38;MQ=42.81;MQ0=4;QD=0.27;SB=74.28 GT:AD:DP:GL:GQ 0/1:59,12:59:-22.99,-17.79,-226.11:52.02 -chr1 1670904 . C T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=38.22;MQ0=4;OQ=63.86;QD=0.91;SB=56.13 GT:AD:DP:GL:GQ 0/1:50,20:51:-25.06,-15.39,-141.72:96.69 -chr1 1670928 . G A 848.58 HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=30.83;MQ0=10;QD=13.91;SB=-297.25 GT:AD:DP:GL:GQ 0/1:30,31:35:-98.68,-10.54,-33.99:99 -chr1 1670936 . G T 255.10 DPFilter;HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=3;HaplotypeScore=4.00;MQ=28.80;MQ0=12;QD=3.99;SB=20.07 GT:AD:DP:GL:GQ 0/1:33,31:36:-39.64,-10.84,-86.07:99 -chr1 1671525 rs35301881 C T 26.84 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=43.35;MQ0=4;OQ=980.88;QD=30.65;SB=-483.00 GT:AD:DP:GL:GQ 1/1:4,28:26:-101.68,-7.83,-0.01:78.25 -chr1 1672234 rs4648812 G A 127.32 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=26.23;MQ0=1;OQ=275.04;QD=7.86;SB=-150.63 GT:AD:DP:GL:GQ 0/1:24,11:30:-39.83,-9.05,-63.69:99 -chr1 1673187 rs14390 C T 78.82 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=730.68;QD=36.53;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,20:19:-76.66,-5.72,-0.00:57.19 -chr1 1673425 rs12588 G A 34.78 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=30.14;MQ0=16;OQ=466.02;QD=6.66;SB=-83.01 GT:AD:DP:GL:GQ 0/1:47,23:47:-64.06,-14.17,-100.00:99 -chr1 1675073 rs2072928 C G 44.21 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=1.71;MQ=59.55;MQ0=0;OQ=1934.62;QD=37.93;SB=-835.43 GT:AD:DP:GL:GQ 1/1:0,51:47:-197.07,-14.17,-0.02:99 -chr1 1675900 rs4751 G T 24.68 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=1.42;MQ=59.65;MQ0=0;OQ=1889.22;QD=34.99;SB=-617.91 GT:AD:DP:GL:GQ 1/1:0,54:52:-192.52,-15.66,-0.02:99 -chr1 1676803 rs2072929 T C 69.29 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.48;MQ0=0;OQ=1256.22;QD=28.55;SB=-491.53 GT:AD:DP:GL:GQ 1/1:0,44:41:-129.26,-12.37,-0.05:99 -chr1 1676822 rs2076327 C T 34.01 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=58.97;MQ0=0;OQ=1637.49;QD=36.39;SB=-774.03 GT:AD:DP:GL:GQ 1/1:0,45:43:-167.35,-12.96,-0.02:99 -chr1 1677485 rs34306661 T C 77.88 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.61;MQ=60.00;MQ0=0;OQ=1787.88;QD=27.94;SB=-566.94 GT:AD:DP:GL:GQ 1/1:0,64:57:-182.43,-17.19,-0.05:99 -chr1 1677651 . C T 157.32 PASS AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.08;MQ0=0;OQ=1381.04;QD=20.92;SB=-549.37 GT:AD:DP:GL:GQ 0/1:23,43:64:-160.68,-19.29,-80.55:99 -chr1 1677956 . C T 7.81 PASS AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=1;HaplotypeScore=2.35;MQ=59.68;MQ0=0;OQ=1209.30;QD=20.50;SB=-531.10 GT:AD:DP:GL:GQ 0/1:22,37:56:-141.09,-16.88,-73.03:99 -chr1 1678052 rs2281173 A G 576.86 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.42;MQ0=0;OQ=1215.40;QD=30.39;SB=-536.99 GT:AD:DP:GL:GQ 1/1:0,40:39:-125.17,-11.77,-0.04:99 -chr1 1678329 rs4648623 C G 0.20 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=58.16;MQ0=0;OQ=844.68;QD=36.73;SB=-124.74 GT:AD:DP:GL:GQ 1/1:0,23:22:-88.07,-6.64,-0.02:66.21 -chr1 1678373 rs4648624 G T 1.77 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=58.84;MQ0=0;OQ=639.15;QD=31.96;SB=-120.84 GT:AD:DP:GL:GQ 1/1:0,20:19:-67.51,-5.72,-0.01:57.16 -chr1 1679024 rs2235536 C T 173.64 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=58.47;MQ0=0;OQ=2302.66;QD=39.70;SB=-1126.49 GT:AD:DP:GL:GQ 1/1:0,58:58:-233.87,-17.47,-0.02:99 -chr1 1679622 rs2235537 T C 108.22 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.44;MQ=59.56;MQ0=0;OQ=1772.95;QD=33.45;SB=-589.32 GT:AD:DP:GL:GQ 1/1:0,53:52:-180.90,-15.67,-0.02:99 -chr1 1681624 . G A 66.45 PASS AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=58.28;MQ0=0;OQ=379.97;QD=10.00;SB=-141.64 GT:AD:DP:GL:GQ 0/1:24,13:33:-51.23,-9.94,-69.72:99 -chr1 1682181 rs1107910 T C 610.89 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1733.17;QD=30.41;SB=-652.94 GT:AD:DP:GL:GQ 1/1:0,57:55:-176.95,-16.58,-0.05:99 -chr1 1683963 rs2011384 A G 3.98 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=4.20;MQ=58.55;MQ0=0;OQ=1546.21;QD=34.36;SB=-525.21 GT:AD:DP:GL:GQ 1/1:0,45:43:-158.22,-12.95,-0.01:99 -chr1 1684111 . C T 6.27 PASS AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=0;HaplotypeScore=5.81;MQ=58.90;MQ0=0;OQ=1337.84;QD=16.12;SB=-601.14 GT:AD:DP:GL:GQ 0/1:40,41:79:-160.90,-23.83,-119.77:99 -chr1 1685322 rs4648629 C A 210.40 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=58.13;MQ0=0;OQ=2599.96;QD=34.67;SB=-1123.97 GT:AD:DP:GL:GQ 1/1:0,75:71:-263.60,-21.38,-0.02:99 -chr1 1685434 rs876029 G T 83.73 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=1202.21;QD=31.64;SB=-492.27 GT:AD:DP:GL:GQ 1/1:0,38:36:-123.83,-10.85,-0.02:99 -chr1 1685691 rs63093560 C T 514.92 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.49;MQ0=0;OQ=1899.13;QD=37.98;SB=-713.35 GT:AD:DP:GL:GQ 1/1:0,50:49:-193.52,-14.77,-0.02:99 -chr1 1686194 rs35270315 A C 13.33 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=3.38;MQ=58.28;MQ0=0;OQ=2324.40;QD=30.19;SB=-1042.79 GT:AD:DP:GL:GQ 1/1:0,77:73:-236.08,-22.00,-0.06:99 -chr1 1686519 . A G 162.43 PASS AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=1839.98;QD=29.21;SB=-784.98 GT:AD:DP:GL:GQ 1/1:0,63:60:-187.66,-18.11,-0.08:99 -chr1 1687967 rs35086222 C T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=6;HaplotypeScore=6.25;MQ=58.18;MQ0=0;OQ=2341.51;QD=37.77;SB=-1078.61 GT:AD:DP:GL:GQ 1/1:1,61:60:-237.76,-18.08,-0.02:99 -chr1 1688667 rs4648826 C G 14.69 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=1.45;MQ=58.62;MQ0=0;OQ=2540.02;QD=41.64;SB=-864.78 GT:AD:DP:GL:GQ 1/1:0,61:58:-257.61,-17.48,-0.02:99 -chr1 1689061 rs4648827 C A 174 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=2030.67;QD=34.42;SB=-1001.13 GT:AD:DP:GL:GQ 1/1:1,58:58:-206.68,-17.47,-0.02:99 -chr1 1692374 rs6658139 T C 285.34 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.82;MQ0=0;OQ=1093.26;QD=29.55;SB=-273.03 GT:AD:DP:GL:GQ 0/1:3,34:37:-123.62,-11.15,-11.29:1.44 -chr1 1694514 rs61774982 C A 248.31 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=53.73;MQ0=0;OQ=726.51;QD=34.60;SB=-285.07 GT:AD:DP:GL:GQ 1/1:0,21:21:-76.24,-6.33,-0.01:63.18 -chr1 1695016 . T A 11.74 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=37;Dels=0.03;HRun=0;HaplotypeScore=27.67;MQ=32.06;MQ0=0;QD=0.32;SB=-25.92 GT:AD:DP:GL:GQ 0/1:10,26:10:-7.44,-3.01,-29.53:44.28 -chr1 1695024 . T A 13.63 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=9.62;MQ=29.68;MQ0=0;QD=0.39;SB=-25.92 GT:AD:DP:GL:GQ 0/1:9,26:10:-7.64,-3.01,-29.53:46.28 -chr1 1695026 . T A 81.80 SnpCluster AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=32.06;MQ0=0;QD=2.21;SB=-59.89 GT:AD:DP:GL:GQ 0/1:8,29:12:-15.08,-3.61,-28.63:99 -chr1 1695028 . T A 128.81 SnpCluster AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=4.66;MQ=32.06;MQ0=0;QD=3.48;SB=-77.75 GT:AD:DP:GL:GQ 0/1:7,30:9:-18.88,-2.71,-13.92:99 -chr1 1695464 rs61774983 A G 565.11 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.28;MQ0=0;OQ=1675.23;QD=34.19;SB=-712.27 GT:AD:DP:GL:GQ 1/1:0,49:49:-171.13,-14.76,-0.02:99 -chr1 1695607 rs6603809 G A 610.11 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.73;MQ0=0;OQ=1827.34;QD=36.55;SB=-919.23 GT:AD:DP:GL:GQ 1/1:0,50:48:-186.34,-14.47,-0.02:99 -chr1 1695633 rs6603810 A G 70.23 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.63;MQ0=1;OQ=1141.91;QD=27.85;SB=-557.89 GT:AD:DP:GL:GQ 1/1:0,41:37:-117.81,-11.16,-0.04:99 -chr1 1695996 rs6603811 T C 513.06 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1134.00;QD=29.08;SB=-433.18 GT:AD:DP:GL:GQ 1/1:0,39:37:-117.03,-11.17,-0.04:99 -chr1 1696020 rs7531583 A G 565.84 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1293.98;QD=28.76;SB=-649.94 GT:AD:DP:GL:GQ 1/1:0,45:43:-133.03,-12.97,-0.04:99 -chr1 1697600 rs12041925 T G 3.96 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=58.61;MQ0=0;OQ=1724.62;QD=29.73;SB=-619.85 GT:AD:DP:GL:GQ 1/1:0,58:53:-176.09,-15.97,-0.04:99 -chr1 1702090 rs10907194 C T 0.75 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=5.73;MQ=57.94;MQ0=0;OQ=1197.78;QD=35.23;SB=-529.68 GT:AD:DP:GL:GQ 1/1:1,33:31:-123.37,-9.34,-0.01:93.30 -chr1 1703208 rs10907195 C T 76.64 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.55;MQ0=0;OQ=1814.27;QD=37.80;SB=-686.40 GT:AD:DP:GL:GQ 1/1:0,48:45:-185.02,-13.55,-0.01:99 -chr1 1703574 rs454577 T G 67.40 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.89;MQ0=0;OQ=652.72;QD=31.08;SB=-294.53 GT:AD:DP:GL:GQ 1/1:0,21:20:-68.87,-6.03,-0.01:60.16 -chr1 1703729 rs7534617 T G 38.29 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=59.38;MQ0=0;OQ=1200.11;QD=32.44;SB=-519.95 GT:AD:DP:GL:GQ 1/1:0,37:36:-123.61,-10.85,-0.02:99 -chr1 1704871 rs742359 C A 251.57 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.49;MQ0=0;OQ=1398.04;QD=31.07;SB=-698.80 GT:AD:DP:GL:GQ 1/1:0,45:41:-143.41,-12.36,-0.02:99 -chr1 1706848 . G A 26.61 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=2;HaplotypeScore=3.11;MQ=59.44;MQ0=0;QD=0.65;SB=62.22 GT:AD:DP:GL:GQ 0/1:33,8:34:-16.19,-10.25,-103.26:59.43 -chr1 1709327 . C A 45.07 LowQual AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=18;HaplotypeScore=15.97;MQ=51.18;MQ0=0;QD=1.07;SB=-1.26 GT:AD:DP:GL:GQ 0/1:34,8:30:-16.83,-9.04,-86.61:77.90 -chr1 1710980 . G C 20.70 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=1;HaplotypeScore=2.37;MQ=53.66;MQ0=1;QD=0.48;SB=38.15 GT:AD:DP:GL:GQ 0/1:38,5:37:-16.51,-11.16,-138.32:53.50 -chr1 1712688 rs3737627 G A 389.56 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1534.00;QD=37.41;SB=-461.61 GT:AD:DP:GL:GQ 1/1:0,41:41:-157.01,-12.36,-0.03:99 -chr1 1715121 rs7545812 A G 362.56 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.39;MQ0=0;OQ=2055.38;QD=33.69;SB=-1042.38 GT:AD:DP:GL:GQ 1/1:0,61:58:-209.15,-17.47,-0.02:99 -chr1 1715620 rs6690956 C T 11.88 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=5.08;MQ=58.81;MQ0=0;OQ=2937.89;QD=37.67;SB=-1197.36 GT:AD:DP:GL:GQ 1/1:0,77:75:-297.40,-22.60,-0.03:99 -chr1 1716741 . G A 184.26 PASS AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=52.39;MQ0=0;OQ=1148.50;QD=16.18;SB=-579.64 GT:AD:DP:GL:GQ 0/1:37,34:69:-138.94,-20.80,-109.67:99 -chr1 1718547 rs6603794 C G 73.37 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=57.85;MQ0=0;OQ=2921.36;QD=42.96;SB=-1363.94 GT:AD:DP:GL:GQ 1/1:0,68:67:-295.74,-20.18,-0.02:99 -chr1 1722071 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=84;Dels=0.01;HRun=18;HaplotypeScore=24.45;MQ=58.30;MQ0=0;OQ=60.55;QD=0.72;SB=155.39 GT:AD:DP:GL:GQ 0/1:70,13:70:-30.14,-20.80,-197.36:93.38 -chr1 1724830 rs12077553 C T 351.52 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.34;MQ0=0;OQ=2450.74;QD=39.53;SB=-952.27 GT:AD:DP:GL:GQ 1/1:0,62:62:-248.68,-18.68,-0.02:99 -chr1 1726513 rs12134783 T G 35.44 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=3.77;MQ=59.11;MQ0=0;OQ=1936.28;QD=28.47;SB=-959.69 GT:AD:DP:GL:GQ 1/1:0,68:64:-197.28,-19.30,-0.07:99 -chr1 1726715 rs11260613 A G 12.97 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=55.98;MQ0=0;OQ=727.27;QD=23.46;SB=-220.64 GT:AD:DP:GL:GQ 1/1:0,31:24:-76.34,-7.24,-0.02:72.14 -chr1 1728231 rs11585349 C T 444.74 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.78;MQ0=0;OQ=853.44;QD=13.13;SB=-325.29 GT:AD:DP:GL:GQ 0/1:37,28:63:-107.61,-18.98,-131.07:99 -chr1 1728793 . C A 11.24 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=87;Dels=0.01;HRun=20;HaplotypeScore=12.66;MQ=49.01;MQ0=7;QD=0.13;SB=83.42 GT:AD:DP:GL:GQ 0/1:67,19:60:-22.45,-18.07,-182.40:43.74 -chr1 1731385 rs12407008 A G 570.73 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.03;MQ0=0;OQ=1462.68;QD=34.02;SB=-730.24 GT:AD:DP:GL:GQ 1/1:0,43:43:-149.87,-12.95,-0.02:99 -chr1 1733337 rs4648725 G C 64.92 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=54.96;MQ0=0;OQ=2515.07;QD=40.57;SB=-1047.66 GT:AD:DP:GL:GQ 1/1:0,62:59:-255.12,-17.78,-0.02:99 -chr1 1733967 rs6603795 T C 231.72 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.62;MQ0=0;OQ=1265.69;QD=28.77;SB=-184.41 GT:AD:DP:GL:GQ 1/1:0,44:42:-130.20,-12.68,-0.05:99 -chr1 1736016 rs12408690 A G 634.80 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1961.02;QD=35.02;SB=-638.31 GT:AD:DP:GL:GQ 1/1:0,56:56:-199.70,-16.87,-0.02:99 -chr1 1736120 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=20;HaplotypeScore=11.72;MQ=42.99;MQ0=2;OQ=648.30;QD=8.64;SB=8.14 GT:AD:DP:GL:GQ 0/1:44,31:58:-85.60,-17.49,-115.79:99 -chr1 1737932 . A T 32.39 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=5;HaplotypeScore=48.11;MQ=56.04;MQ0=0;QD=0.40;SB=116.40 GT:AD:DP:GL:GQ 0/1:65,15:66:-26.41,-19.89,-217.38:65.23 -chr1 1737943 . C T 27.67 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=20;HaplotypeScore=10.01;MQ=51.69;MQ0=1;QD=0.36;SB=101.33 GT:AD:DP:GL:GQ 0/1:61,16:52:-21.72,-15.67,-162.40:60.50 -chr1 1739272 . T G 33.88 PASS AC=1;AF=0.50;AN=2;DP=79;Dels=0.00;HRun=1;HaplotypeScore=2.35;MQ=58.21;MQ0=0;OQ=1071.30;QD=13.56;SB=-555.72 GT:AD:DP:GL:GQ 0/1:40,39:77:-133.61,-23.19,-145.75:99 -chr1 1741546 rs12140085 T C 459.98 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=59.38;MQ0=0;OQ=960.01;QD=14.12;SB=-398.30 GT:AD:DP:GL:GQ 0/1:32,36:66:-119.17,-19.88,-129.12:99 -chr1 1741636 rs11260615 A G 471.98 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.06;MQ0=1;OQ=1308.14;QD=29.07;SB=-638.27 GT:AD:DP:GL:GQ 1/1:1,44:42:-134.44,-12.67,-0.04:99 -chr1 1742815 rs4648726 C T 274.47 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=3089.56;QD=40.12;SB=-1427.40 GT:AD:DP:GL:GQ 1/1:0,77:77:-312.56,-23.19,-0.02:99 -chr1 1743224 rs7542340 T C 171.92 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=3;HaplotypeScore=-0.06;MQ=58.50;MQ0=0;OQ=2101.69;QD=35.62;SB=-1028.76 GT:AD:DP:GL:GQ 1/1:0,59:59:-213.77,-17.77,-0.02:99 -chr1 1744541 . G A 32.03 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=61;Dels=0.03;HRun=20;HaplotypeScore=23.82;MQ=51.57;MQ0=1;QD=0.53;SB=71.26 GT:AD:DP:GL:GQ 0/1:45,13:49:-20.64,-14.16,-151.56:64.87 -chr1 1748886 rs9786963 T C 652.35 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1920.23;QD=32.55;SB=-686.89 GT:AD:DP:GL:GQ 1/1:0,59:59:-195.65,-17.79,-0.04:99 -chr1 1748914 rs10907187 G A 586.04 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2397.92;QD=36.89;SB=-817.09 GT:AD:DP:GL:GQ 1/1:0,65:65:-243.43,-19.61,-0.05:99 -chr1 1750849 rs12568603 A C 141.73 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=60.00;MQ0=0;OQ=1462.88;QD=34.02;SB=-618.64 GT:AD:DP:GL:GQ 1/1:0,43:43:-149.89,-12.95,-0.02:99 -chr1 1751196 rs1999704 A C 13.93 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=2.14;MQ=56.69;MQ0=1;OQ=2047.05;QD=32.49;SB=-593.04 GT:AD:DP:GL:GQ 1/1:1,62:59:-208.31,-17.77,-0.02:99 -chr1 1751865 rs11260616 A T 0.13 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=6;HaplotypeScore=1.13;MQ=59.11;MQ0=0;OQ=1852.12;QD=35.62;SB=-771.53 GT:AD:DP:GL:GQ 1/1:0,52:52:-188.82,-15.67,-0.02:99 -chr1 1751874 rs7553640 T C 711.95 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=1893.02;QD=35.06;SB=-889.04 GT:AD:DP:GL:GQ 1/1:0,54:53:-192.90,-15.97,-0.02:99 -chr1 1752558 rs6603796 T C 171.81 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=56.20;MQ0=0;OQ=1646.02;QD=32.27;SB=-583.16 GT:AD:DP:GL:GQ 1/1:0,51:48:-168.22,-14.47,-0.03:99 -chr1 1755443 rs6603797 T C 720.20 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.75;MQ0=0;OQ=2694.93;QD=35.46;SB=-935.73 GT:AD:DP:GL:GQ 1/1:0,76:74:-273.10,-22.29,-0.02:99 -chr1 1755954 rs6663586 A C 220.63 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.45;MQ0=0;OQ=1370.69;QD=32.64;SB=-604.02 GT:AD:DP:GL:GQ 1/1:0,42:40:-140.67,-12.05,-0.02:99 -chr1 1756219 rs6603798 A G 29.08 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=55.51;MQ0=2;OQ=1475.64;QD=28.38;SB=-669.92 GT:AD:DP:GL:GQ 1/1:2,50:47:-151.19,-14.18,-0.04:99 -chr1 1757221 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=20;HaplotypeScore=10.23;MQ=53.30;MQ0=1;OQ=618.88;QD=9.67;SB=31.58 GT:AD:DP:GL:GQ 0/1:38,25:58:-82.66,-17.49,-122.37:99 -chr1 1758520 rs10752417 C G 0.14 PASS AC=2;AF=1.00;AN=2;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=5.58;MQ=57.83;MQ0=0;OQ=4550.45;QD=42.93;SB=-2086.29 GT:AD:DP:GL:GQ 1/1:0,106:103:-454.04,-31.03,-0.03:99 -chr1 1758754 rs10907188 C T 32.55 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=2.66;MQ=58.85;MQ0=1;OQ=2558.37;QD=38.18;SB=-882.18 GT:AD:DP:GL:GQ 1/1:1,66:64:-259.44,-19.28,-0.02:99 -chr1 1759918 rs6603799 T C 1.47 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=10.20;MQ=56.09;MQ0=0;OQ=1988.53;QD=33.14;SB=-981.94 GT:AD:DP:GL:GQ 1/1:1,59:56:-202.45,-16.87,-0.02:99 -chr1 1760648 rs6657357 C G 301.74 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=59.38;MQ0=0;OQ=2954.84;QD=38.37;SB=-1347.06 GT:AD:DP:GL:GQ 1/1:0,77:74:-299.12,-22.32,-0.05:99 -chr1 1760649 rs6665287 T A 112.70 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=59.39;MQ0=0;OQ=2934.49;QD=37.15;SB=-1492.41 GT:AD:DP:GL:GQ 1/1:0,79:78:-297.05,-23.49,-0.02:99 -chr1 1762348 rs6603800 T G 88.85 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=59.54;MQ0=0;OQ=1401.85;QD=28.04;SB=-481.90 GT:AD:DP:GL:GQ 1/1:0,50:43:-143.80,-12.96,-0.03:99 -chr1 1762595 rs10907189 T C 215.16 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=58.73;MQ0=1;OQ=2558.08;QD=35.53;SB=-1178.50 GT:AD:DP:GL:GQ 1/1:1,71:71:-259.41,-21.39,-0.02:99 -chr1 1763512 rs11260618 A G 251.61 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=34.24;MQ0=0;OQ=1296.92;QD=19.36;SB=-537.23 GT:AD:DP:GL:GQ 1/1:0,67:42:-133.32,-12.67,-0.05:99 -chr1 1763520 rs11260619 C G 204.70 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=32.31;MQ0=0;OQ=1789.21;QD=27.11;SB=-722.93 GT:AD:DP:GL:GQ 1/1:0,66:41:-182.52,-12.35,-0.01:99 -chr1 1763525 rs11260620 T C 490.04 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.33;MQ0=0;OQ=1197.40;QD=18.42;SB=-469.25 GT:AD:DP:GL:GQ 1/1:0,65:37:-123.35,-11.15,-0.02:99 -chr1 1763536 rs11260621 T C 53.91 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=2.15;MQ=32.77;MQ0=1;OQ=1342.11;QD=19.74;SB=-614.98 GT:AD:DP:GL:GQ 1/1:1,67:42:-137.83,-12.66,-0.03:99 -chr1 1763632 rs10907190 G A 500.76 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.92;MQ0=0;OQ=2342.36;QD=38.40;SB=-955.26 GT:AD:DP:GL:GQ 1/1:0,61:60:-237.85,-18.08,-0.03:99 -chr1 1765035 rs11260622 A G 3.08 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=4.83;MQ=58.68;MQ0=1;OQ=1949.34;QD=28.25;SB=-876.43 GT:AD:DP:GL:GQ 1/1:0,68:61:-198.58,-18.40,-0.06:99 -chr1 1766129 rs4648727 C A 222.67 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=59.39;MQ0=0;OQ=2474.83;QD=35.87;SB=-1254.46 GT:AD:DP:GL:GQ 1/1:0,69:68:-251.09,-20.48,-0.02:99 -chr1 1768896 rs6692959 T C 606.28 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.52;MQ0=0;OQ=2761.38;QD=31.74;SB=-1372.68 GT:AD:DP:GL:GQ 1/1:0,87:87:-279.80,-26.24,-0.08:99 -chr1 1769657 . A T 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=45;Dels=0.02;HRun=0;HaplotypeScore=8.89;MQ=56.00;MQ0=1;OQ=229.76;QD=5.11;SB=-125.76 GT:AD:DP:GL:GQ 0/1:24,18:27:-34.10,-7.84,-57.21:99 -chr1 1770738 rs6603801 T C 614.13 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=1986.61;QD=34.85;SB=-910.02 GT:AD:DP:GL:GQ 1/1:0,57:57:-202.27,-17.17,-0.02:99 -chr1 1771205 rs6664578 G A 696.21 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.39;MQ0=0;OQ=3186.74;QD=38.39;SB=-1518.58 GT:AD:DP:GL:GQ 1/1:0,83:81:-322.28,-24.40,-0.02:99 -chr1 1772480 rs12066667 C T 200.36 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.77;MQ0=0;OQ=1986.28;QD=37.48;SB=-1001.85 GT:AD:DP:GL:GQ 1/1:0,53:51:-202.23,-15.37,-0.02:99 -chr1 1773061 rs12402876 G A 282.08 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=57.70;MQ0=0;OQ=2522.68;QD=37.10;SB=-929.21 GT:AD:DP:GL:GQ 1/1:0,68:65:-255.88,-19.59,-0.03:99 -chr1 1773444 rs7526236 G A 531.06 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.03;MQ0=0;OQ=1822.31;QD=37.96;SB=-748.50 GT:AD:DP:GL:GQ 1/1:0,48:47:-185.83,-14.16,-0.02:99 -chr1 1782409 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=18;HaplotypeScore=10.25;MQ=50.63;MQ0=2;OQ=451.92;QD=7.66;SB=-97.66 GT:AD:DP:GL:GQ 0/1:39,20:52:-64.14,-15.67,-118.24:99 -chr1 1782428 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=65;Dels=0.02;HRun=18;HaplotypeScore=18.34;MQ=52.25;MQ0=1;OQ=88.42;QD=1.36;SB=56.19 GT:AD:DP:GL:GQ 0/1:56,8:49:-26.89,-14.77,-145.13:99 -chr1 1782863 rs1889678 A G 536.70 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.83;MQ0=0;OQ=1352.43;QD=28.18;SB=-598.57 GT:AD:DP:GL:GQ 1/1:0,48:43:-138.86,-12.97,-0.04:99 -chr1 1782931 rs12076620 A G 575.25 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.11;MQ0=0;OQ=1635.06;QD=34.79;SB=-754.18 GT:AD:DP:GL:GQ 1/1:0,47:46:-167.10,-13.85,-0.01:99 -chr1 1782971 rs10907192 A G 594.85 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.51;MQ0=0;OQ=1599.36;QD=34.03;SB=-532.43 GT:AD:DP:GL:GQ 1/1:0,47:46:-163.54,-13.86,-0.02:99 -chr1 1783646 rs7511905 A C 266.52 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=1582.35;QD=31.65;SB=-751.07 GT:AD:DP:GL:GQ 1/1:0,50:47:-161.84,-14.16,-0.02:99 -chr1 1785347 rs6660452 A C 506.81 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.51;MQ0=0;OQ=1748.60;QD=30.15;SB=-666.84 GT:AD:DP:GL:GQ 1/1:0,58:55:-178.49,-16.58,-0.04:99 -chr1 1785613 . C A 22.53 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=20;HaplotypeScore=2.54;MQ=46.56;MQ0=0;QD=0.48;SB=89.31 GT:AD:DP:GL:GQ 0/1:40,7:41:-17.88,-12.35,-133.39:55.34 -chr1 1785636 rs6697311 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=101;Dels=0.01;HRun=20;HaplotypeScore=31.36;MQ=43.36;MQ0=1;OQ=989.12;QD=9.79;SB=-44.45 GT:AD:DP:GL:GQ 0/1:50,49:75:-124.51,-22.31,-136.94:99 -chr1 1785639 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=98;Dels=0.01;HRun=4;HaplotypeScore=41.45;MQ=42.87;MQ0=1;OQ=381.85;QD=3.90;SB=86.26 GT:AD:DP:GL:GQ 0/1:59,38:65:-60.76,-19.29,-163.75:99 -chr1 1785649 rs12036384 C T 5.26 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=10.21;MQ=50.24;MQ0=1;OQ=2105.43;QD=30.96;SB=-932.26 GT:AD:DP:GL:GQ 1/1:2,63:54:-214.14,-16.27,-0.02:99 -chr1 1786577 rs12134553 A C 2.61 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=7.76;MQ=57.97;MQ0=1;OQ=1915.32;QD=26.98;SB=-959.05 GT:AD:DP:GL:GQ 1/1:3,68:63:-201.59,-18.99,-6.48:99 -chr1 1787250 rs6670246 T A 192 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.78;MQ0=0;OQ=2864.46;QD=33.70;SB=-1257.90 GT:AD:DP:GL:GQ 1/1:2,83:84:-296.95,-25.31,-6.91:99 -chr1 1789560 rs4648591 T C 58.31 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=47.68;MQ0=0;OQ=1563.80;QD=30.66;SB=-605.93 GT:AD:DP:GL:GQ 1/1:0,51:49:-160.01,-14.78,-0.04:99 -chr1 1789813 rs7516995 T C 114.34 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=58.57;MQ0=0;OQ=1801.38;QD=30.53;SB=-555.03 GT:AD:DP:GL:GQ 1/1:0,59:55:-183.76,-16.58,-0.04:99 -chr1 1790511 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=100;Dels=0.02;HRun=20;HaplotypeScore=40.13;MQ=50.15;MQ0=2;OQ=70.47;QD=0.70;SB=149.46 GT:AD:DP:GL:GQ 0/1:69,28:73:-32.03,-21.69,-222.30:99 -chr1 1790894 rs4648592 G A 598.36 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.49;MQ0=0;OQ=2599.64;QD=38.23;SB=-928.70 GT:AD:DP:GL:GQ 1/1:0,68:65:-263.57,-19.58,-0.02:99 -chr1 1792032 rs6666068 A G 457.40 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2160.60;QD=28.43;SB=-673.85 GT:AD:DP:GL:GQ 1/1:0,76:67:-219.70,-20.20,-0.05:99 -chr1 1794162 rs3855951 C T 52.04 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=2;HaplotypeScore=2.26;MQ=59.71;MQ0=0;OQ=3179.43;QD=39.74;SB=-1555.57 GT:AD:DP:GL:GQ 1/1:0,80:79:-321.55,-23.80,-0.02:99 -chr1 1795251 rs10907193 G A 266.85 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.20;MQ=60.00;MQ0=0;OQ=1860.92;QD=32.65;SB=-731.44 GT:AD:DP:GL:GQ 1/1:0,56:50:-189.71,-15.08,-0.03:99 -chr1 1796166 rs10399762 A G 54.56 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=58.73;MQ0=0;OQ=1409.98;QD=25.64;SB=-484.50 GT:AD:DP:GL:GQ 1/1:0,55:46:-144.64,-13.88,-0.05:99 -chr1 1798609 . A T 162.96 SnpCluster AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=74.10;MQ=46.50;MQ0=2;QD=4.29;SB=-81.05 GT:AD:DP:GL:GQ 0/1:27,11:32:-29.22,-9.64,-87.24:99 -chr1 1798611 . A T 632.57 SnpCluster AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=43.92;MQ=46.08;MQ0=2;QD=17.10;SB=-306.76 GT:AD:DP:GL:GQ 0/1:10,25:30:-75.58,-9.04,-33.08:99 -chr1 1798613 rs57488553 A T 825.28 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=35.29;MQ=45.64;MQ0=2;QD=22.92;SB=-393.55 GT:AD:DP:GL:GQ 0/1:7,29:31:-95.15,-9.34,-18.41:90.67 -chr1 1798615 rs58263709 A T 846.29 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=33.82;MQ=45.64;MQ0=2;QD=23.51;SB=-402.56 GT:AD:DP:GL:GQ 0/1:6,30:30:-96.95,-9.04,-14.67:56.29 -chr1 1799369 rs11260624 C T 198.24 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.40;MQ0=0;OQ=2735.01;QD=39.07;SB=-1363.94 GT:AD:DP:GL:GQ 1/1:0,69:70:-279.86,-23.72,-2.77:99 -chr1 1799950 rs7525092 C T 160.98 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=59.72;MQ0=0;OQ=3051.79;QD=36.77;SB=-1420.35 GT:AD:DP:GL:GQ 1/1:0,83:79:-308.79,-23.80,-0.03:99 -chr1 1800981 rs12133865 G A 87.68 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=56.12;MQ0=0;OQ=1844.69;QD=38.43;SB=-730.97 GT:AD:DP:GL:GQ 1/1:0,48:48:-188.07,-14.47,-0.02:99 -chr1 1802311 . A G 78.46 Indel AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=3;HaplotypeScore=2.28;MQ=57.45;MQ0=0;QD=1.09;SB=-6.51 GT:AD:DP:GL:GQ 0/1:62,10:70:-32.22,-21.09,-246.49:99 -chr1 1802688 rs6670776 G A 560.73 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.03;MQ0=0;OQ=2301.44;QD=40.38;SB=-996.99 GT:AD:DP:GL:GQ 1/1:0,57:57:-233.74,-17.17,-0.01:99 -chr1 1805482 rs12138152 G A 76.26 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=58.49;MQ0=0;OQ=2306.96;QD=39.10;SB=-1138.66 GT:AD:DP:GL:GQ 1/1:0,59:59:-234.30,-17.78,-0.02:99 -chr1 1807030 rs10796396 G A 291.66 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=49.36;MQ0=0;OQ=1090.79;QD=38.96;SB=-403.67 GT:AD:DP:GL:GQ 1/1:0,28:28:-112.67,-8.43,-0.01:84.28 -chr1 1809238 rs6603804 T C 659.20 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=2030.11;QD=33.84;SB=-689.61 GT:AD:DP:GL:GQ 1/1:0,60:59:-206.62,-17.78,-0.03:99 -chr1 1809966 rs28608797 A C 520.78 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.00;MQ0=0;OQ=1235.99;QD=32.53;SB=-595.06 GT:AD:DP:GL:GQ 1/1:1,37:36:-127.20,-10.84,-0.01:99 -chr1 1813782 rs6688000 A G 233.16 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=58.61;MQ0=0;OQ=1439.33;QD=30.62;SB=-681.87 GT:AD:DP:GL:GQ 1/1:0,46:46:-147.56,-13.87,-0.04:99 -chr1 1818624 rs12045595 G A 59.58 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=59.53;MQ0=0;OQ=1836.38;QD=37.48;SB=-594.97 GT:AD:DP:GL:GQ 1/1:0,49:48:-187.24,-14.46,-0.02:99 -chr1 1821118 rs6603808 A G 79.87 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=60.00;MQ0=0;OQ=1052.30;QD=28.44;SB=-413.55 GT:AD:DP:GL:GQ 1/1:0,37:31:-108.83,-9.34,-0.01:93.27 -chr1 1822217 rs941531 G A 113.99 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=58.68;MQ0=0;OQ=2643.63;QD=39.46;SB=-1073.33 GT:AD:DP:GL:GQ 1/1:0,67:66:-267.97,-19.88,-0.02:99 -chr1 1822410 . A G 49.96 LowQual AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.13;MQ0=0;QD=0.89;SB=-35.78 GT:AD:DP:GL:GQ 0/1:49,7:55:-24.85,-16.57,-195.12:82.80 -chr1 1822442 rs4996032 G A 113.94 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.02;HRun=2;HaplotypeScore=1.09;MQ=59.55;MQ0=0;OQ=884.12;QD=14.03;SB=-419.83 GT:AD:DP:GL:GQ 0/1:35,27:62:-110.37,-18.67,-127.42:99 -chr1 1822448 rs4996031 A G 133.35 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=59.08;MQ0=1;OQ=897.87;QD=14.03;SB=-423.51 GT:AD:DP:GL:GQ 0/1:31,33:61:-111.45,-18.38,-115.75:99 -chr1 1823355 rs10454464 G A 100.58 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=57.95;MQ0=0;OQ=1113.42;QD=34.79;SB=-534.62 GT:AD:DP:GL:GQ 1/1:0,31:31:-117.34,-11.71,-2.42:92.95 -chr1 1824608 rs4648731 A G 30.88 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=54.33;MQ0=0;OQ=891.08;QD=28.74;SB=-233.75 GT:AD:DP:GL:GQ 1/1:0,31:26:-92.71,-7.84,-0.01:78.21 -chr1 1824902 rs11260625 G A 47.11 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=46.58;MQ0=0;OQ=814.82;QD=27.16;SB=-295.36 GT:AD:DP:GL:GQ 1/1:0,25:22:-85.08,-6.64,-0.02:66.19 -chr1 1824916 rs11260626 C T 92.97 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=48.72;MQ0=0;OQ=1289.62;QD=36.85;SB=-588.96 GT:AD:DP:GL:GQ 1/1:0,35:34:-132.56,-10.25,-0.01:99 -chr1 1825136 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=16;HaplotypeScore=8.80;MQ=56.14;MQ0=0;OQ=163.77;QD=3.72;SB=41.15 GT:AD:DP:GL:GQ 0/1:27,17:32:-29.31,-9.65,-83.86:99 -chr1 1826546 rs2748989 C G 308.42 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.60;MQ0=0;OQ=2438.44;QD=41.33;SB=-736.72 GT:AD:DP:GL:GQ 1/1:0,59:58:-247.45,-17.48,-0.02:99 -chr1 1827738 rs4648732 C T 470.86 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.97;MQ0=0;OQ=1741.59;QD=38.70;SB=-666.40 GT:AD:DP:GL:GQ 1/1:0,45:44:-177.75,-13.25,-0.01:99 -chr1 1828376 rs2377037 C A 189.26 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=60.00;MQ0=0;OQ=1605.71;QD=33.45;SB=-826.68 GT:AD:DP:GL:GQ 1/1:1,47:46:-164.17,-13.86,-0.02:99 -chr1 1828498 rs28672079 A G 314.26 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.92;MQ0=0;OQ=1270.30;QD=29.54;SB=-594.88 GT:AD:DP:GL:GQ 1/1:0,43:41:-130.66,-12.37,-0.05:99 -chr1 1829551 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=2;HaplotypeScore=17.55;MQ=56.35;MQ0=0;OQ=57.59;QD=1.48;SB=26.11 GT:AD:DP:GL:GQ 0/1:19,19:17:-14.19,-5.14,-50.87:90.43 -chr1 1829898 rs2474461 T C 40.50 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=579.60;QD=34.09;SB=-105.03 GT:AD:DP:GL:GQ 1/1:0,17:17:-61.55,-5.12,-0.01:51.14 -chr1 1830536 rs28384316 G T 112.96 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=125.10;QD=25.02;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,5:5:-16.07,-1.51,-0.01:15.03 -chr1 1832651 . A G 0.32 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=3;HaplotypeScore=1.47;MQ=60.00;MQ0=0;OQ=742.60;QD=18.11;SB=-247.32 GT:AD:DP:GL:GQ 0/1:17,24:40:-89.59,-12.05,-62.50:99 -chr1 1834219 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=20;HaplotypeScore=9.36;MQ=53.72;MQ0=0;OQ=93.63;QD=2.46;SB=11.06 GT:AD:DP:GL:GQ 0/1:25,13:25:-20.18,-7.53,-63.71:99 -chr1 1834282 . T C 14.27 PASS AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.55;MQ0=0;OQ=417.56;QD=26.10;SB=-221.65 GT:AD:DP:GL:GQ 1/1:0,16:14:-45.35,-4.22,-0.01:42.10 -chr1 1834553 rs28842562 C T 275.34 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.51;MQ0=1;OQ=892.93;QD=34.34;SB=-192.75 GT:AD:DP:GL:GQ 1/1:0,26:23:-92.88,-6.93,-0.01:69.22 -chr1 1836321 rs41306992 C T 57.34 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=59.24;MQ0=0;OQ=2100.54;QD=38.19;SB=-756.01 GT:AD:DP:GL:GQ 1/1:0,55:53:-213.65,-15.97,-0.01:99 -chr1 1836442 rs2748987 A G 431.11 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.71;MQ0=0;OQ=1604.85;QD=34.15;SB=-631.28 GT:AD:DP:GL:GQ 1/1:0,47:47:-164.09,-14.16,-0.02:99 -chr1 1838594 rs941532 A G 20.25 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=58.71;MQ0=0;OQ=477.15;QD=26.51;SB=-129.69 GT:AD:DP:GL:GQ 1/1:0,18:17:-51.32,-5.13,-0.02:51.08 -chr1 1839996 rs2295364 C T 1.07 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=58.59;MQ0=0;OQ=1245.14;QD=37.73;SB=-117.65 GT:AD:DP:GL:GQ 1/1:0,33:32:-128.11,-9.64,-0.01:96.31 -chr1 1841796 rs2474458 C A 22.03 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=3.16;MQ=58.78;MQ0=0;OQ=1243.51;QD=32.72;SB=-630.04 GT:AD:DP:GL:GQ 1/1:0,38:36:-127.95,-10.85,-0.01:99 -chr1 1842344 rs28508199 A G 34.17 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=58.67;MQ0=0;OQ=1404.62;QD=28.67;SB=-672.87 GT:AD:DP:GL:GQ 1/1:0,49:45:-144.09,-13.57,-0.04:99 -chr1 1843148 rs1884454 G T 340.59 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=56.74;MQ0=0;OQ=831.99;QD=14.34;SB=-322.02 GT:AD:DP:GL:GQ 0/1:28,30:55:-103.05,-16.57,-95.32:99 -chr1 1844181 rs2250833 A G 20.17 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.36;MQ0=0;OQ=995.90;QD=27.66;SB=-313.46 GT:AD:DP:GL:GQ 1/1:0,36:31:-103.20,-9.35,-0.02:93.22 -chr1 1845310 rs28423370 A G 170.66 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.78;MQ0=0;OQ=608.06;QD=32.00;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,19:19:-64.40,-5.72,-0.01:57.14 -chr1 1845407 . C A 46.94 LowQual AC=1;AF=0.50;AN=2;DP=5;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=55.21;MQ0=0;QD=9.39;SB=-10.00 GT:AD:DP:GL:GQ 0/1:2,3:5:-9.49,-1.51,-6.80:52.97 -chr1 1845958 rs752965 C T 17.19 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.17;MQ0=0;OQ=985.76;QD=35.21;SB=-88.34 GT:AD:DP:GL:GQ 1/1:0,28:26:-102.17,-7.83,-0.01:78.25 -chr1 1846560 rs2092922 C T 67.91 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=58.95;MQ0=0;OQ=1561.86;QD=36.32;SB=-529.71 GT:AD:DP:GL:GQ 1/1:0,43:41:-159.79,-12.36,-0.02:99 -chr1 1848991 rs4648734 C T 0.80 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=7.13;MQ=58.00;MQ0=0;OQ=1973.99;QD=36.56;SB=-772.04 GT:AD:DP:GL:GQ 1/1:0,53:53:-203.45,-18.19,-2.47:99 -chr1 1849418 rs28670388 T C 0.23 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=3;HaplotypeScore=7.22;MQ=55.28;MQ0=2;OQ=1025.15;QD=29.29;SB=-496.47 GT:AD:DP:GL:GQ 1/1:3,32:30:-106.11,-9.04,-0.01:90.24 -chr1 1850605 rs28685049 C T 18.19 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.84;MQ0=0;OQ=778.38;QD=38.92;SB=-47.56 GT:AD:DP:GL:GQ 1/1:0,20:20:-81.43,-6.03,-0.01:60.20 -chr1 1850678 . T A 0.69 PASS AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=41.96;MQ0=0;OQ=61.03;QD=6.78;SB=5.04 GT:AD:DP:GL:GQ 0/1:6,3:9:-12.10,-2.71,-21.43:93.87 -chr1 1850683 . G A 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=7;Dels=0.00;HRun=0;HaplotypeScore=10.93;MQ=35.14;MQ0=0;OQ=63.11;QD=9.02;SB=-3.99 GT:AD:DP:GL:GQ 0/1:4,3:6:-11.40,-1.81,-10.53:87.27 -chr1 1851012 rs55825112 G A 257.30 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.15;MQ0=0;OQ=1284.14;QD=38.91;SB=-355.97 GT:AD:DP:GL:GQ 1/1:0,33:33:-132.01,-9.94,-0.01:99 -chr1 1852535 rs2474449 C T 115.82 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=42.11;MQ0=1;OQ=2050.54;QD=37.28;SB=-856.64 GT:AD:DP:GL:GQ 1/1:1,54:53:-211.75,-15.96,-3.11:99 -chr1 1852731 . T A 22.37 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=63;Dels=0.05;HRun=20;HaplotypeScore=13.90;MQ=48.22;MQ0=0;QD=0.36;SB=16.21 GT:AD:DP:GL:GQ 0/1:42,18:40:-16.96,-11.45,-121.97:55.18 -chr1 1852818 rs4648595 A G 3.40 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=3.78;MQ=50.34;MQ0=1;OQ=917.27;QD=25.48;SB=-127.78 GT:AD:DP:GL:GQ 1/1:1,35:28:-95.33,-8.44,-0.02:84.22 -chr1 1853042 . C A 10.89 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=20;HaplotypeScore=9.56;MQ=49.02;MQ0=4;QD=0.19;SB=86.27 GT:AD:DP:GL:GQ 0/1:51,7:42:-16.99,-12.66,-132.54:43.35 -chr1 1853068 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=2;HaplotypeScore=13.43;MQ=48.98;MQ0=4;OQ=94.12;QD=1.00;SB=104.36 GT:AD:DP:GL:GQ 0/1:70,24:65:-32.29,-19.60,-195.03:99 -chr1 1853265 rs60147457 T C 26.01 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=56.17;MQ0=0;OQ=1299.21;QD=28.24;SB=-640.40 GT:AD:DP:GL:GQ 1/1:1,45:44:-136.91,-13.28,-3.40:98.74 -chr1 1855559 . C T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=1;HaplotypeScore=1.77;MQ=58.15;MQ0=0;OQ=143.93;QD=1.87;SB=17.18 GT:AD:DP:GL:GQ 0/1:67,10:76:-40.57,-22.90,-237.26:99 -chr1 1855612 rs2748968 C T 224.03 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=2.51;MQ=53.49;MQ0=2;OQ=1207.94;QD=15.10;SB=-597.02 GT:AD:DP:GL:GQ 0/1:40,40:73:-146.08,-22.00,-120.30:99 -chr1 1855646 . T C 0.93 PASS AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=9.48;MQ=53.45;MQ0=2;OQ=1049.44;QD=14.78;SB=-537.98 GT:AD:DP:GL:GQ 0/1:31,40:66:-128.11,-19.89,-114.90:99 -chr1 1855674 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=15.63;MQ=50.86;MQ0=1;OQ=126.19;QD=2.25;SB=-24.71 GT:AD:DP:GL:GQ 0/1:49,7:53:-31.88,-15.98,-189.82:99 -chr1 1855675 . A G 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=14.63;MQ=50.86;MQ0=1;OQ=886.43;QD=15.83;SB=-281.60 GT:AD:DP:GL:GQ 0/1:21,35:52:-107.60,-15.67,-76.26:99 -chr1 1856033 rs34454803 C G 2.87 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=4.56;MQ=48.03;MQ0=9;OQ=1928.44;QD=26.78;SB=-825.04 GT:AD:DP:GL:GQ 1/1:9,62:49:-203.74,-17.80,-7.31:99 -chr1 1856195 rs61775027 C T 136.98 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=55.46;MQ0=1;OQ=2158.57;QD=29.98;SB=-1089.45 GT:AD:DP:GL:GQ 1/1:8,64:59:-222.77,-17.79,-3.33:99 -chr1 1856465 rs34793596 C G 37.34 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=2.87;MQ=54.29;MQ0=1;OQ=3153.75;QD=39.92;SB=-1439.03 GT:AD:DP:GL:GQ 1/1:3,76:75:-323.13,-22.60,-4.17:99 -chr1 1856473 rs35531706 C G 44.13 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=2.23;MQ=55.29;MQ0=1;OQ=2974.48;QD=40.20;SB=-1193.83 GT:AD:DP:GL:GQ 1/1:1,73:71:-301.06,-21.40,-0.03:99 -chr1 1858345 rs28658236 G A 98.82 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=0.98;MQ=60.00;MQ0=0;OQ=1111.27;QD=16.34;SB=-403.37 GT:AD:DP:GL:GQ 0/1:35,33:68:-134.91,-20.49,-114.02:99 -chr1 1859106 . T G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=2;HaplotypeScore=6.59;MQ=57.30;MQ0=0;OQ=100.83;QD=1.80;SB=56.18 GT:AD:DP:GL:GQ 0/1:31,25:39:-25.12,-11.75,-106.73:99 -chr1 1859766 rs28592294 C T 2.76 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=5.60;MQ=57.03;MQ0=0;OQ=2783.58;QD=37.62;SB=-907.72 GT:AD:DP:GL:GQ 1/1:1,72:73:-285.26,-22.00,-3.32:99 -chr1 1860070 rs2803323 G A 91.89 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=58.89;MQ0=0;OQ=1564.69;QD=37.25;SB=-659.28 GT:AD:DP:GL:GQ 1/1:0,42:41:-160.07,-12.36,-0.02:99 -chr1 1861277 rs2803324 T C 62.39 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.17;MQ0=0;OQ=848.26;QD=30.30;SB=-320.13 GT:AD:DP:GL:GQ 1/1:0,28:28:-88.44,-8.45,-0.03:84.18 -chr1 1863485 rs12758705 G A 595.32 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=2263.21;QD=38.36;SB=-926.70 GT:AD:DP:GL:GQ 1/1:0,59:57:-229.92,-17.17,-0.01:99 -chr1 1864441 rs2803329 A G 280.82 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.50;MQ0=0;OQ=1008.85;QD=27.27;SB=-491.17 GT:AD:DP:GL:GQ 1/1:0,37:33:-104.50,-9.95,-0.03:99 -chr1 1864697 rs2803330 A G 60.11 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.49;MQ0=0;OQ=756.37;QD=30.25;SB=-313.68 GT:AD:DP:GL:GQ 1/1:0,25:22:-79.23,-6.63,-0.01:66.20 -chr1 1865005 rs2803331 C T 233.79 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=58.84;MQ0=0;OQ=1354.55;QD=33.86;SB=-668.39 GT:AD:DP:GL:GQ 1/1:0,37:37:-139.06,-11.16,-0.02:99 -chr1 1865127 rs2262190 A G 525.82 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.03;MQ0=0;OQ=948.06;QD=30.58;SB=-404.33 GT:AD:DP:GL:GQ 1/1:0,31:30:-98.41,-9.05,-0.02:90.22 -chr1 1867098 rs2748978 T G 544.45 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.39;MQ0=0;OQ=1416.47;QD=34.55;SB=-657.23 GT:AD:DP:GL:GQ 1/1:0,41:41:-145.24,-12.35,-0.01:99 -chr1 1867212 rs2803339 T C 83.30 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.84;MQ=54.90;MQ0=0;OQ=1104.15;QD=27.60;SB=-492.17 GT:AD:DP:GL:GQ 1/1:1,39:37:-114.04,-11.17,-0.04:99 -chr1 1868944 rs2490543 C T 282.58 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=58.05;MQ0=0;OQ=849.11;QD=14.15;SB=-315.86 GT:AD:DP:GL:GQ 0/1:33,27:55:-104.77,-16.57,-95.97:99 -chr1 1868947 rs28573337 G A 161.30 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=57.95;MQ0=0;OQ=983.65;QD=17.26;SB=-292.79 GT:AD:DP:GL:GQ 0/1:26,31:55:-118.23,-16.58,-80.47:99 -chr1 1869420 rs28498068 T G 172.46 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=56.75;MQ0=0;OQ=395.95;QD=11.31;SB=-182.88 GT:AD:DP:GL:GQ 0/1:18,17:34:-53.12,-10.25,-61.66:99 -chr1 1869908 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=14;HaplotypeScore=14.65;MQ=46.99;MQ0=0;OQ=127.58;QD=2.90;SB=11.06 GT:AD:DP:GL:GQ 0/1:29,15:29:-24.78,-8.74,-71.11:99 -chr1 1870211 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=105;Dels=0.02;HRun=2;HaplotypeScore=156.21;MQ=37.45;MQ0=0;OQ=89.02;QD=0.85;SB=-10.74 GT:AD:DP:GL:GQ 0/1:91,12:93:-39.61,-27.42,-314.70:99 -chr1 1870216 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.13;HRun=3;HaplotypeScore=129.57;MQ=35.88;MQ0=0;OQ=216.82;QD=2.28;SB=-71.49 GT:AD:DP:GL:GQ 0/1:69,14:77:-47.26,-22.30,-241.64:99 -chr1 1870237 . C T 350.17 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=1;HaplotypeScore=136.82;MQ=33.84;MQ0=0;QD=4.38;SB=-96.57 GT:AD:DP:GL:GQ 0/1:64,16:68:-58.79,-20.48,-197.51:99 -chr1 1870241 . T C 795.72 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=2;HaplotypeScore=105.65;MQ=33.28;MQ0=0;QD=10.33;SB=-171.98 GT:AD:DP:GL:GQ 0/1:49,28:68:-103.35,-20.49,-158.12:99 -chr1 1870246 . T C 783.37 SnpCluster AC=1;AF=0.50;AN=2;DP=75;Dels=0.01;HRun=3;HaplotypeScore=106.17;MQ=32.28;MQ0=0;QD=10.44;SB=-190.65 GT:AD:DP:GL:GQ 0/1:44,29:65:-101.22,-19.60,-139.10:99 -chr1 1870249 rs28490251 C T 536.49 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=65.25;MQ=33.25;MQ0=0;QD=8.01;SB=-19.48 GT:AD:DP:GL:GQ 0/1:45,22:60:-75.01,-18.07,-158.51:99 -chr1 1870263 . T C 67.37 SnpCluster AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=2;HaplotypeScore=102.33;MQ=35.77;MQ0=0;QD=1.07;SB=-0.98 GT:AD:DP:GL:GQ 0/1:55,8:53:-25.99,-15.97,-184.95:99 -chr1 1870272 . C T 96.33 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=2;HaplotypeScore=53.42;MQ=40.73;MQ0=0;QD=1.55;SB=5.03 GT:AD:DP:GL:GQ 0/1:52,10:55:-29.48,-16.57,-180.28:99 -chr1 1870273 . T C 72.37 SnpCluster AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=2;HaplotypeScore=53.42;MQ=40.73;MQ0=0;QD=1.17;SB=-0.98 GT:AD:DP:GL:GQ 0/1:55,7:53:-26.49,-15.97,-188.35:99 -chr1 1870281 . C T 187.69 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=1;HaplotypeScore=96.79;MQ=44.56;MQ0=0;QD=3.24;SB=5.04 GT:AD:DP:GL:GQ 0/1:46,12:51:-37.41,-15.36,-160.10:99 -chr1 1870294 . T C 11.65 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=10.99;MQ=47.97;MQ0=0;QD=0.19;SB=8.05 GT:AD:DP:GL:GQ 0/1:55,6:59:-22.20,-17.78,-213.89:44.18 -chr1 1870405 . C A 16.24 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=38.44;MQ0=0;OQ=457.23;QD=8.97;SB=-4.29 GT:AD:DP:GL:GQ 0/1:33,18:50:-64.07,-15.06,-117.59:99 -chr1 1870410 . T C 0.86 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=38.95;MQ0=0;OQ=422.51;QD=8.80;SB=-31.25 GT:AD:DP:GL:GQ 0/1:31,17:47:-59.69,-14.16,-126.57:99 -chr1 1870428 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=1;HaplotypeScore=20.35;MQ=41.74;MQ0=0;OQ=75.20;QD=2.15;SB=23.10 GT:AD:DP:GL:GQ 0/1:27,8:31:-20.14,-9.34,-96.20:99 -chr1 1870432 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=1;HaplotypeScore=16.08;MQ=42.82;MQ0=0;OQ=52.58;QD=1.81;SB=29.11 GT:AD:DP:GL:GQ 0/1:24,5:28:-16.98,-8.43,-86.35:85.42 -chr1 1870446 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=25;Dels=0.04;HRun=2;HaplotypeScore=17.65;MQ=47.45;MQ0=0;OQ=105.58;QD=4.22;SB=-62.85 GT:AD:DP:GL:GQ 0/1:18,6:24:-20.77,-6.93,-68.32:99 -chr1 1871370 rs2490541 C A 191.01 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=58.38;MQ0=1;OQ=2594.06;QD=33.69;SB=-1155.38 GT:AD:DP:GL:GQ 1/1:0,76:73:-263.01,-21.99,-0.02:99 -chr1 1872147 rs2490540 A G 201.87 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=58.87;MQ0=0;OQ=2121.33;QD=34.22;SB=-1028.42 GT:AD:DP:GL:GQ 1/1:0,62:60:-215.74,-18.07,-0.02:99 -chr1 1872797 rs28754760 C T 596.04 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.63;MQ0=0;OQ=2762.82;QD=40.63;SB=-1367.30 GT:AD:DP:GL:GQ 1/1:0,68:68:-279.88,-20.48,-0.01:99 -chr1 1872809 rs2490564 A G 614.38 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.49;MQ0=0;OQ=2664.00;QD=34.60;SB=-1257.66 GT:AD:DP:GL:GQ 1/1:0,77:76:-270.02,-22.89,-0.03:99 -chr1 1872820 rs2490563 C A 537.89 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.73;MQ0=0;OQ=2673.37;QD=36.62;SB=-1103.59 GT:AD:DP:GL:GQ 1/1:0,73:73:-270.94,-21.99,-0.02:99 -chr1 1872941 rs28505085 C T 182.42 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.70;MQ0=0;OQ=3049.13;QD=40.12;SB=-1406.71 GT:AD:DP:GL:GQ 1/1:0,76:76:-308.51,-22.89,-0.02:99 -chr1 1873219 rs2490562 A G 659.58 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.78;MQ0=0;OQ=2029.90;QD=31.23;SB=-828.58 GT:AD:DP:GL:GQ 1/1:0,65:64:-206.63,-19.30,-0.05:99 -chr1 1874915 rs2474455 C T 626.28 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=2935.86;QD=37.64;SB=-1349.01 GT:AD:DP:GL:GQ 1/1:0,78:74:-297.19,-22.29,-0.02:99 -chr1 1876080 rs4648738 C T 622.15 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=38.86;MQ0=0;OQ=2172.76;QD=36.21;SB=-969.30 GT:AD:DP:GL:GQ 1/1:0,60:56:-220.88,-16.87,-0.02:99 -chr1 1876082 rs2803287 T G 577.20 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=38.86;MQ0=0;OQ=1927.37;QD=32.12;SB=-839.09 GT:AD:DP:GL:GQ 1/1:0,60:56:-196.35,-16.87,-0.02:99 -chr1 1876206 . G A 152.24 Indel AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=32.79;MQ=48.52;MQ0=0;QD=4.91;SB=-65.27 GT:AD:DP:GL:GQ 0/1:20,7:27:-34.54,-16.03,-70.20:99 -chr1 1876245 rs2803286 T C 61.43 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.76;MQ=51.77;MQ0=0;OQ=999.35;QD=27.76;SB=-355.43 GT:AD:DP:GL:GQ 1/1:0,36:34:-103.57,-10.26,-0.05:99 -chr1 1876361 rs2748976 C A 113.55 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=45.22;MQ0=0;OQ=179.32;QD=6.90;SB=-106.45 GT:AD:DP:GL:GQ 0/1:18,8:25:-28.75,-7.53,-52.51:99 -chr1 1876371 . C A 48.69 LowQual AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=43.76;MQ0=0;QD=2.03;SB=-50.67 GT:AD:DP:GL:GQ 0/1:20,4:23:-15.08,-6.93,-60.82:81.52 -chr1 1876379 rs2748975 C A 111.71 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=47.73;MQ0=0;OQ=820.31;QD=34.18;SB=-360.86 GT:AD:DP:GL:GQ 1/1:0,24:23:-85.62,-6.93,-0.01:69.21 -chr1 1876719 rs3795290 C T 341.91 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.08;MQ0=0;OQ=1064.55;QD=38.02;SB=-422.06 GT:AD:DP:GL:GQ 1/1:0,28:28:-110.05,-8.44,-0.01:84.27 -chr1 1876879 rs28548017 A G 12.14 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=3.36;MQ=59.09;MQ0=0;OQ=1547.11;QD=33.63;SB=-748.91 GT:AD:DP:GL:GQ 1/1:0,45:45:-158.32,-13.56,-0.02:99 -chr1 1877105 rs28575980 G A 126.28 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=58.88;MQ0=0;OQ=2123.64;QD=39.33;SB=-940.36 GT:AD:DP:GL:GQ 1/1:0,54:54:-215.96,-16.27,-0.02:99 -chr1 1878053 rs3820011 C A 596.21 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1358.01;QD=33.95;SB=-534.23 GT:AD:DP:GL:GQ 1/1:0,40:39:-139.40,-11.75,-0.01:99 -chr1 1878190 rs28535696 C T 4.02 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=5.27;MQ=59.60;MQ0=0;OQ=1961.78;QD=33.82;SB=-651.37 GT:AD:DP:GL:GQ 1/1:0,56:52:-199.79,-15.68,-0.03:99 -chr1 1878229 rs2803285 A G 106.12 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=60.00;MQ0=0;OQ=1952.57;QD=31.49;SB=-789.62 GT:AD:DP:GL:GQ 1/1:0,62:61:-198.90,-18.40,-0.05:99 -chr1 1878313 rs28549710 G A 560.24 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=1883.77;QD=38.44;SB=-852.64 GT:AD:DP:GL:GQ 1/1:0,49:48:-191.98,-14.46,-0.02:99 -chr1 1878885 rs2748974 A G 5.77 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=2.37;MQ=58.15;MQ0=0;OQ=1276.90;QD=26.60;SB=-511.07 GT:AD:DP:GL:GQ 1/1:1,47:40:-131.31,-12.06,-0.03:99 -chr1 1878935 rs941533 C T 78.39 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=58.81;MQ0=0;OQ=1331.51;QD=34.14;SB=-642.34 GT:AD:DP:GL:GQ 1/1:0,39:35:-136.75,-10.55,-0.02:99 -chr1 1879652 rs2748973 A T 145.27 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=60.00;MQ0=0;OQ=1566.33;QD=34.81;SB=-658.70 GT:AD:DP:GL:GQ 1/1:0,44:44:-160.23,-13.26,-0.02:99 -chr1 1881908 rs2803292 G C 343.50 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=1280.73;QD=16.85;SB=-445.74 GT:AD:DP:GL:GQ 0/1:41,35:73:-153.35,-22.00,-166.87:99 -chr1 1882185 rs2803291 T C 583.24 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=1616.58;QD=28.87;SB=-749.95 GT:AD:DP:GL:GQ 1/1:0,56:52:-165.29,-15.68,-0.05:99 -chr1 1883521 rs9777849 T C 52.56 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=58.55;MQ0=0;OQ=2600.99;QD=33.78;SB=-793.15 GT:AD:DP:GL:GQ 1/1:0,77:75:-263.71,-22.59,-0.03:99 -chr1 1883775 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=18;HaplotypeScore=34.55;MQ=54.67;MQ0=0;OQ=115.46;QD=1.72;SB=60.06 GT:AD:DP:GL:GQ 0/1:50,15:53:-37.44,-22.61,-153.19:99 -chr1 1884144 rs4648739 T C 265.60 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=1.29;MQ=56.66;MQ0=0;OQ=1089.11;QD=12.10;SB=-234.30 GT:AD:DP:GL:GQ 0/1:41,48:84:-137.52,-25.33,-160.93:99 -chr1 1884622 . T G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=2;HaplotypeScore=7.50;MQ=53.07;MQ0=0;OQ=108.82;QD=2.02;SB=71.24 GT:AD:DP:GL:GQ 0/1:31,23:39:-25.91,-11.75,-106.64:99 -chr1 1884705 rs9697615 G A 136.68 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=58.71;MQ0=0;OQ=608.41;QD=12.94;SB=-170.23 GT:AD:DP:GL:GQ 0/1:24,22:44:-77.39,-13.26,-79.80:99 -chr1 1884754 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=43.50;MQ=52.44;MQ0=1;OQ=107.17;QD=1.76;SB=65.22 GT:AD:DP:GL:GQ 0/1:47,13:52:-29.66,-15.66,-164.16:99 -chr1 1884755 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=20;HaplotypeScore=45.92;MQ=52.41;MQ0=1;OQ=326.78;QD=5.11;SB=65.23 GT:AD:DP:GL:GQ 0/1:48,16:59:-53.73,-17.77,-157.95:99 -chr1 1884837 rs35817970 T C 556.60 Indel AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.07;MQ=55.91;MQ0=0;QD=10.91;SB=-219.26 GT:AD:DP:GL:GQ 0/1:29,21:48:-73.41,-14.46,-106.68:99 -chr1 1885037 rs7523728 C T 495.93 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.35;MQ0=0;OQ=754.75;QD=13.98;SB=-403.19 GT:AD:DP:GL:GQ 0/1:30,24:50:-93.83,-15.07,-88.75:99 -chr1 1885400 rs28561741 A G 4.33 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=3;HaplotypeScore=1.47;MQ=59.52;MQ0=0;OQ=350.23;QD=7.30;SB=-137.55 GT:AD:DP:GL:GQ 0/1:31,17:46:-52.17,-13.87,-117.69:99 -chr1 1885962 rs13302978 G A 113.63 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=4.25;MQ=53.12;MQ0=0;OQ=689.28;QD=12.53;SB=-222.75 GT:AD:DP:GL:GQ 0/1:26,26:49:-87.00,-14.79,-79.84:99 -chr1 1886045 rs13303324 T C 252.63 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.41;MQ0=0;OQ=434.96;QD=11.15;SB=-181.59 GT:AD:DP:GL:GQ 0/1:18,21:37:-57.94,-11.16,-71.83:99 -chr1 1886083 rs13303202 C T 406.23 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=730.31;QD=16.98;SB=-346.33 GT:AD:DP:GL:GQ 0/1:21,22:43:-89.27,-12.95,-73.96:99 -chr1 1886300 rs16824585 G A 23.99 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=56.05;MQ0=0;OQ=933.53;QD=20.75;SB=-382.89 GT:AD:DP:GL:GQ 0/1:18,27:45:-110.19,-13.56,-62.00:99 -chr1 1886413 rs28625839 C T 106.43 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.20;MQ0=0;OQ=181.47;QD=6.98;SB=-69.07 GT:AD:DP:GL:GQ 0/1:17,9:21:-27.77,-6.34,-42.14:99 -chr1 1887329 rs28523363 A G 314.68 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.33;MQ=60.00;MQ0=0;OQ=843.98;QD=13.40;SB=-333.92 GT:AD:DP:GL:GQ 0/1:32,31:62:-106.36,-18.68,-128.89:99 -chr1 1887451 rs4648599 C T 245.43 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=58.01;MQ0=0;OQ=690.92;QD=14.70;SB=-275.28 GT:AD:DP:GL:GQ 0/1:24,23:44:-85.64,-13.26,-73.07:99 -chr1 1887613 rs4648600 C G 12.90 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=4.38;MQ=58.99;MQ0=0;OQ=734.25;QD=15.96;SB=-239.38 GT:AD:DP:GL:GQ 0/1:23,23:42:-89.37,-12.66,-89.33:99 -chr1 1887905 rs28712827 G A 21.15 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=6.31;MQ=57.89;MQ0=0;OQ=502.21;QD=13.22;SB=-250.22 GT:AD:DP:GL:GQ 0/1:20,17:35:-64.07,-10.57,-52.53:99 -chr1 1888209 rs28414188 C T 21.14 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=2.66;MQ=59.03;MQ0=0;OQ=593.85;QD=13.81;SB=-128.12 GT:AD:DP:GL:GQ 0/1:24,19:42:-75.32,-12.65,-82.23:99 -chr1 1888229 rs28629936 G A 50.03 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.95;MQ0=0;OQ=708.17;QD=17.70;SB=-204.21 GT:AD:DP:GL:GQ 0/1:19,21:39:-85.85,-11.75,-58.81:99 -chr1 1888545 rs17715950 T C 188.94 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=392.93;QD=12.68;SB=-143.27 GT:AD:DP:GL:GQ 0/1:16,15:29:-51.31,-8.74,-58.30:99 -chr1 1888637 rs34506333 G C 174.46 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.80;MQ=57.85;MQ0=0;OQ=1081.48;QD=18.97;SB=-492.64 GT:AD:DP:GL:GQ 0/1:26,30:56:-128.32,-16.89,-103.04:99 -chr1 1888639 rs35698161 C A 246.37 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.80;MQ=57.81;MQ0=0;OQ=901.53;QD=16.10;SB=-413.05 GT:AD:DP:GL:GQ 0/1:26,30:56:-110.30,-16.87,-89.43:99 -chr1 1888688 rs34824947 T C 245.62 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=58.71;MQ0=0;OQ=584.90;QD=12.44;SB=-198.60 GT:AD:DP:GL:GQ 0/1:25,22:46:-75.63,-13.86,-99.35:99 -chr1 1888695 rs34586002 C A 280.09 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.48;MQ0=0;OQ=561.20;QD=12.75;SB=-230.89 GT:AD:DP:GL:GQ 0/1:24,20:42:-72.05,-12.65,-79.10:99 -chr1 1888719 rs35031992 G A 261.38 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=60.00;MQ0=0;OQ=534.91;QD=11.38;SB=-199.88 GT:AD:DP:GL:GQ 0/1:28,19:46:-70.65,-13.87,-88.35:99 -chr1 1888794 rs35186797 T C 29.82 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=2.78;MQ=57.65;MQ0=0;OQ=525.33;QD=10.94;SB=-267.94 GT:AD:DP:GL:GQ 0/1:23,25:43:-68.78,-12.96,-87.05:99 -chr1 1888798 rs13303138 G A 173.43 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=57.75;MQ0=0;OQ=779.95;QD=15.60;SB=-266.18 GT:AD:DP:GL:GQ 0/1:24,26:46:-95.14,-13.87,-72.15:99 -chr1 1888835 rs34940616 G A 9.86 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.88;MQ0=0;OQ=741.91;QD=23.93;SB=-335.86 GT:AD:DP:GL:GQ 0/1:9,22:29:-86.21,-8.74,-25.83:99 -chr1 1889024 rs17778128 G C 179.10 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=57.35;MQ0=0;OQ=668.72;QD=10.79;SB=-360.78 GT:AD:DP:GL:GQ 0/1:38,24:59:-87.94,-17.79,-162.55:99 -chr1 1889139 rs61775058 A T 458.44 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.25;MQ0=0;OQ=787.44;QD=13.58;SB=-299.67 GT:AD:DP:GL:GQ 0/1:31,27:58:-99.50,-17.47,-121.67:99 -chr1 1889179 rs61775059 T C 275.84 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=58.27;MQ0=0;OQ=765.16;QD=11.42;SB=-328.14 GT:AD:DP:GL:GQ 0/1:35,32:66:-99.69,-19.89,-140.70:99 -chr1 1889260 rs13303007 G A 42.33 Indel;LowQual AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=6.98;MQ=52.93;MQ0=0;QD=0.73;SB=-30.38 GT:AD:DP:GL:GQ 0/1:52,6:58:-24.99,-17.47,-182.54:75.16 -chr1 1889721 rs4648601 C T 94.28 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=56.35;MQ0=0;OQ=530.41;QD=10.20;SB=-77.51 GT:AD:DP:GL:GQ 0/1:33,19:47:-70.50,-14.17,-95.11:99 -chr1 1890092 rs16824588 T C 13.33 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=57.02;MQ0=0;OQ=150.77;QD=3.97;SB=-54.71 GT:AD:DP:GL:GQ 0/1:26,12:35:-28.91,-10.55,-104.30:99 -chr1 1890192 rs55709963 A G 31.87 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=56.20;MQ0=0;OQ=293.66;QD=11.75;SB=-65.87 GT:AD:DP:GL:GQ 0/1:12,13:24:-39.88,-7.23,-45.12:99 -chr1 1890199 rs56126097 A G 24.29 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=55.86;MQ0=0;OQ=270.97;QD=11.78;SB=-47.83 GT:AD:DP:GL:GQ 0/1:11,12:22:-37.01,-6.63,-43.67:99 -chr1 1890235 rs55676322 G A 36.70 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=52.45;MQ0=0;QD=2.82;SB=-3.98 GT:AD:DP:GL:GQ 0/1:10,3:12:-10.57,-3.62,-30.38:69.54 -chr1 1890236 . C T 56.05 SnpCluster AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=53.03;MQ0=0;QD=4.00;SB=-3.98 GT:AD:DP:GL:GQ 0/1:11,3:13:-12.81,-3.92,-36.41:88.89 -chr1 1890241 rs55784504 G A 37.70 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=53.95;MQ0=0;QD=2.36;SB=-0.97 GT:AD:DP:GL:GQ 0/1:13,3:15:-11.57,-4.52,-40.91:70.54 -chr1 1890268 rs61776961 A G 12.56 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=1.72;MQ=53.61;MQ0=0;QD=0.66;SB=-31.93 GT:AD:DP:GL:GQ 0/1:15,4:17:-9.64,-5.12,-56.10:45.15 -chr1 1890270 rs61776962 C T 67.49 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=2.55;MQ=53.03;MQ0=0;QD=3.21;SB=-45.25 GT:AD:DP:GL:GQ 0/1:16,5:19:-15.77,-5.74,-45.89:99 -chr1 1890274 rs61776963 T C 59.17 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=2;HaplotypeScore=2.43;MQ=51.33;MQ0=0;QD=2.96;SB=-53.70 GT:AD:DP:GL:GQ 0/1:14,6:19:-14.93,-5.73,-56.51:92.01 -chr1 1890292 rs61776964 T G 172.84 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=50.53;MQ0=0;OQ=263.44;QD=9.08;SB=-95.94 GT:AD:DP:GL:GQ 0/1:17,12:28:-38.07,-8.44,-56.66:99 -chr1 1890305 rs61776965 C T 161.45 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=1.46;MQ=50.32;MQ0=0;OQ=365.34;QD=11.79;SB=-175.70 GT:AD:DP:GL:GQ 0/1:18,13:27:-47.95,-8.13,-56.49:99 -chr1 1890314 rs6681749 A G 143.47 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=50.65;MQ0=0;OQ=306.18;QD=9.57;SB=-129.77 GT:AD:DP:GL:GQ 0/1:17,15:29:-42.64,-8.74,-64.98:99 -chr1 1890507 . T C 42.73 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=2;HaplotypeScore=3.92;MQ=54.77;MQ0=0;QD=1.86;SB=14.07 GT:AD:DP:GL:GQ 0/1:16,7:17:-12.68,-5.13,-48.62:75.57 -chr1 1890548 . A T 8.30 PASS AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=60.00;MQ0=0;OQ=79.81;QD=7.98;SB=-57.71 GT:AD:DP:GL:GQ 0/1:6,4:10:-14.28,-3.01,-22.53:99 -chr1 1890778 rs28707401 G A 84.90 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=58.33;MQ0=0;OQ=401.02;QD=14.32;SB=-129.13 GT:AD:DP:GL:GQ 0/1:13,14:24:-53.53,-10.14,-35.22:99 -chr1 1892326 . A C 112.36 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=59.24;MQ0=0;OQ=852.28;QD=15.50;SB=-429.85 GT:AD:DP:GL:GQ 0/1:26,29:52:-104.18,-15.67,-81.22:99 -chr1 1892422 rs7367171 A G 220.04 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=59.60;MQ0=0;OQ=514.17;QD=9.02;SB=-267.96 GT:AD:DP:GL:GQ 0/1:32,25:54:-70.98,-16.28,-126.05:99 -chr1 1892426 rs7367879 G A 251.13 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=59.60;MQ0=0;OQ=832.91;QD=14.36;SB=-352.38 GT:AD:DP:GL:GQ 0/1:32,26:52:-102.26,-15.68,-81.39:99 -chr1 1892733 rs7366028 C T 234.62 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.35;MQ0=0;OQ=1086.69;QD=15.31;SB=-535.37 GT:AD:DP:GL:GQ 0/1:36,35:67:-132.15,-20.20,-106.68:99 -chr1 1893163 rs4648603 C T 25.39 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.03;MQ=59.48;MQ0=0;OQ=261.75;QD=5.95;SB=-111.10 GT:AD:DP:GL:GQ 0/1:32,12:41:-41.83,-12.38,-90.87:99 -chr1 1893572 rs13303201 C A 360.69 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=57.58;MQ0=0;OQ=726.40;QD=15.46;SB=-340.06 GT:AD:DP:GL:GQ 0/1:22,25:44:-89.18,-13.26,-62.88:99 -chr1 1895166 rs56313717 C A 171.85 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=60.00;MQ0=0;OQ=635.59;QD=15.13;SB=-197.47 GT:AD:DP:GL:GQ 0/1:18,24:41:-79.20,-12.35,-61.36:99 -chr1 1897772 rs7528894 C T 135.70 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=58.63;MQ0=0;OQ=607.52;QD=11.91;SB=-152.65 GT:AD:DP:GL:GQ 0/1:30,21:44:-77.30,-13.26,-84.20:99 -chr1 1897865 rs7536087 T C 25.44 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=54.74;MQ0=0;OQ=378.78;QD=5.83;SB=-147.48 GT:AD:DP:GL:GQ 0/1:38,27:56:-58.05,-16.88,-148.17:99 -chr1 1897872 rs28588807 T C 29.81 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=53.22;MQ0=0;OQ=367.97;QD=6.24;SB=-166.50 GT:AD:DP:GL:GQ 0/1:36,23:50:-55.16,-15.08,-127.98:99 -chr1 1897899 rs4388640 C T 188.74 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=52.25;MQ0=0;OQ=499.97;QD=8.20;SB=-247.55 GT:AD:DP:GL:GQ 0/1:39,22:51:-68.65,-15.37,-112.84:99 -chr1 1897945 rs28410799 A G 3.16 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=5.71;MQ=54.36;MQ0=0;OQ=341.23;QD=5.59;SB=-142.90 GT:AD:DP:GL:GQ 0/1:39,21:52:-53.08,-15.68,-138.70:99 -chr1 1897960 rs28789409 G T 236.91 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=55.27;MQ0=0;OQ=569.89;QD=9.19;SB=-286.60 GT:AD:DP:GL:GQ 0/1:38,24:59:-78.04,-17.77,-137.70:99 -chr1 1898245 rs13303203 C T 367.31 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.47;MQ0=0;OQ=546.46;QD=10.31;SB=-185.87 GT:AD:DP:GL:GQ 0/1:33,20:47:-72.10,-14.17,-90.13:99 -chr1 1898289 rs28545809 T C 170.68 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=55.94;MQ0=0;OQ=320.54;QD=7.82;SB=-173.95 GT:AD:DP:GL:GQ 0/1:24,16:37:-46.49,-11.16,-87.43:99 -chr1 1898563 rs4233027 C G 427.81 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.18;MQ0=0;OQ=977.32;QD=15.27;SB=-297.92 GT:AD:DP:GL:GQ 0/1:36,28:63:-120.00,-18.99,-153.02:99 -chr1 1899064 rs35953639 A G 134.17 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=4.58;MQ=58.52;MQ0=0;OQ=901.65;QD=15.82;SB=-439.15 GT:AD:DP:GL:GQ 0/1:25,32:55:-110.02,-16.57,-94.81:99 -chr1 1899178 rs61776976 G A 36.91 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=59.15;MQ0=0;OQ=1106.44;QD=22.13;SB=-371.92 GT:AD:DP:GL:GQ 0/1:16,34:48:-128.39,-14.47,-53.19:99 -chr1 1899305 rs55863117 A G 206.03 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=59.24;MQ0=0;OQ=872.61;QD=14.31;SB=-340.17 GT:AD:DP:GL:GQ 0/1:25,35:57:-107.73,-17.18,-95.38:99 -chr1 1899354 rs28716654 C T 202.23 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=59.30;MQ0=0;OQ=1176.35;QD=17.82;SB=-612.15 GT:AD:DP:GL:GQ 0/1:31,35:62:-139.59,-18.67,-102.07:99 -chr1 1899413 rs28680595 T A 360.31 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.29;MQ0=0;OQ=1036.44;QD=15.95;SB=-464.88 GT:AD:DP:GL:GQ 0/1:30,35:63:-125.91,-18.98,-108.28:99 -chr1 1899561 rs28613404 C T 21.64 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=5.89;MQ=58.07;MQ0=0;OQ=742.01;QD=16.13;SB=-312.34 GT:AD:DP:GL:GQ 0/1:20,25:42:-90.15,-12.66,-60.03:99 -chr1 1899593 rs28491083 G T 384.56 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.79;MQ0=0;OQ=572.46;QD=14.31;SB=-222.49 GT:AD:DP:GL:GQ 0/1:17,23:37:-71.67,-11.14,-60.73:99 -chr1 1899703 rs28433557 C T 153.68 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=58.28;MQ0=0;OQ=695.04;QD=16.55;SB=-241.74 GT:AD:DP:GL:GQ 0/1:19,23:39:-84.54,-11.75,-59.04:99 -chr1 1899714 rs28448395 G A 59.92 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=57.87;MQ0=0;OQ=975.55;QD=21.68;SB=-411.21 GT:AD:DP:GL:GQ 0/1:16,29:43:-113.79,-12.96,-49.10:99 -chr1 1899728 rs28539219 G A 22.10 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=58.50;MQ0=0;OQ=1039.92;QD=21.66;SB=-531.16 GT:AD:DP:GL:GQ 0/1:16,32:45:-120.83,-13.56,-54.90:99 -chr1 1899861 rs28468541 C G 2.92 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=9.03;MQ=56.76;MQ0=0;OQ=898.89;QD=17.63;SB=-410.04 GT:AD:DP:GL:GQ 0/1:24,26:48:-107.64,-14.46,-99.37:99 -chr1 1899872 rs28588737 T C 12.45 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=3.04;MQ=57.56;MQ0=0;OQ=448.65;QD=9.35;SB=-239.28 GT:AD:DP:GL:GQ 0/1:25,23:43:-61.11,-12.96,-97.10:99 -chr1 1899946 rs28645949 G T 144.20 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=60.00;MQ0=0;OQ=332.80;QD=10.40;SB=-155.69 GT:AD:DP:GL:GQ 0/1:19,13:30:-45.61,-9.04,-50.81:99 -chr1 1900096 rs28651716 T C 225.12 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=54.90;MQ0=0;OQ=686.40;QD=12.71;SB=-338.36 GT:AD:DP:GL:GQ 0/1:28,26:53:-87.90,-15.97,-105.41:99 -chr1 1900231 rs28642304 G A 31.56 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=5.35;MQ=52.67;MQ0=2;OQ=686.17;QD=14.00;SB=-341.85 GT:AD:DP:GL:GQ 0/1:25,24:43:-84.86,-12.96,-72.07:99 -chr1 1900342 . C G 14.82 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=12.94;MQ=53.14;MQ0=2;QD=0.37;SB=26.12 GT:AD:DP:GL:GQ 0/1:35,5:34:-15.00,-10.25,-129.63:47.51 -chr1 1900344 . T C 47.56 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=13.10;MQ=54.07;MQ0=2;QD=1.16;SB=26.11 GT:AD:DP:GL:GQ 0/1:32,9:34:-18.29,-10.25,-109.75:80.39 -chr1 1900366 . T C 19.64 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=56.14;MQ0=0;QD=0.48;SB=17.08 GT:AD:DP:GL:GQ 0/1:34,7:35:-15.79,-10.55,-116.81:52.43 -chr1 1900466 rs7550407 A G 75.71 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=45.89;MQ0=2;OQ=380.59;QD=19.03;SB=-189.68 GT:AD:DP:GL:GQ 1/1:0,20:13:-41.66,-3.92,-0.01:39.09 -chr1 1900518 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=10.99;MQ=35.59;MQ0=6;OQ=55.62;QD=1.29;SB=-13.87 GT:AD:DP:GL:GQ 0/1:29,14:19:-14.57,-5.73,-56.56:88.46 -chr1 1900571 . C T 45.32 LowQual AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=19.95;MQ=36.93;MQ0=3;QD=0.91;SB=-24.62 GT:AD:DP:GL:GQ 0/1:41,9:25:-15.36,-7.54,-65.46:78.16 -chr1 1900816 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=6.83;MQ=47.18;MQ0=2;OQ=71.50;QD=1.79;SB=-42.78 GT:AD:DP:GL:GQ 0/1:30,10:31:-19.78,-9.34,-96.64:99 -chr1 1900861 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=8.07;MQ=42.04;MQ0=5;OQ=136.19;QD=2.67;SB=-39.59 GT:AD:DP:GL:GQ 0/1:31,18:36:-30.43,-13.53,-101.33:99 -chr1 1900880 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=21.93;MQ=42.64;MQ0=5;OQ=81.77;QD=1.99;SB=26.03 GT:AD:DP:GL:GQ 0/1:32,9:28:-19.91,-8.45,-71.11:99 -chr1 1900981 . G A 32.02 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=0;HaplotypeScore=14.77;MQ=47.97;MQ0=0;QD=1.07;SB=20.08 GT:AD:DP:GL:GQ 0/1:27,3:20:-12.51,-6.03,-56.06:64.85 -chr1 1900982 . C T 11.94 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=0;HaplotypeScore=14.77;MQ=47.50;MQ0=0;QD=0.41;SB=35.07 GT:AD:DP:GL:GQ 0/1:26,3:25:-11.99,-7.54,-69.22:44.49 -chr1 1900987 . C G 179.53 SnpCluster AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=1;HaplotypeScore=15.25;MQ=49.14;MQ0=0;QD=5.79;SB=-106.68 GT:AD:DP:GL:GQ 0/1:23,8:22:-27.88,-6.64,-59.47:99 -chr1 1901007 . A G 17.82 PASS AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=50.60;MQ0=0;OQ=269.42;QD=8.42;SB=-129.64 GT:AD:DP:GL:GQ 0/1:19,13:29:-38.97,-8.74,-66.56:99 -chr1 1901025 . T C 1.37 PASS AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=50.85;MQ0=0;OQ=146.63;QD=3.67;SB=-63.91 GT:AD:DP:GL:GQ 0/1:26,13:31:-27.31,-9.36,-79.17:99 -chr1 1901036 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=7.09;MQ=51.49;MQ0=1;OQ=87.37;QD=1.99;SB=-8.61 GT:AD:DP:GL:GQ 0/1:38,6:38:-23.49,-11.46,-98.15:99 -chr1 1901053 . T C 11.36 LowQual AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=52.41;MQ0=1;QD=0.25;SB=-25.22 GT:AD:DP:GL:GQ 0/1:37,8:38:-15.84,-11.45,-126.44:43.87 -chr1 1901418 rs28645431 C T 0.52 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=3.95;MQ=41.39;MQ0=1;OQ=172.22;QD=4.53;SB=-89.91 GT:AD:DP:GL:GQ 0/1:29,9:21:-26.84,-6.33,-42.67:99 -chr1 1901574 rs13303001 G A 41.49 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=7.68;MQ=10.86;MQ0=15;QD=1.66;SB=-10.00 GT:AD:DP:GL:GQ 0/1:20,5:3:-8.34,-0.90,-3.10:21.92 -chr1 1901637 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=1;HaplotypeScore=16.41;MQ=17.84;MQ0=13;OQ=157.79;QD=2.87;SB=-10.00 GT:AD:DP:GL:GQ 0/1:44,10:26:-26.90,-7.83,-65.70:99 -chr1 1901664 . G A 34.02 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.20;MQ=18.33;MQ0=14;QD=0.67;SB=-10.00 GT:AD:DP:GL:GQ 0/1:42,9:17:-11.81,-5.13,-50.35:66.86 -chr1 1901668 . G A 0.06 PASS AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.04;MQ=18.51;MQ0=13;OQ=99.32;QD=2.03;SB=-7.00 GT:AD:DP:GL:GQ 0/1:40,9:16:-18.04,-4.83,-38.64:99 -chr1 1901732 rs13303290 T C 12.82 LowQual AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=50.55;MQ0=0;QD=0.64;SB=-24.62 GT:AD:DP:GL:GQ 0/1:15,5:16:-9.37,-4.82,-51.21:45.43 -chr1 1901798 rs4648740 A G 153 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=48.72;MQ0=0;OQ=495.24;QD=14.15;SB=-240.44 GT:AD:DP:GL:GQ 0/1:16,19:34:-63.06,-10.25,-57.72:99 -chr1 1901828 rs4648741 T A 223.12 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=49.47;MQ0=0;OQ=518.42;QD=14.01;SB=-218.56 GT:AD:DP:GL:GQ 0/1:16,21:33:-65.07,-9.94,-58.68:99 -chr1 1902252 rs35209771 G A 29.20 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=4.72;MQ=59.38;MQ0=0;OQ=570.39;QD=15.42;SB=-188.28 GT:AD:DP:GL:GQ 0/1:17,20:31:-69.66,-9.34,-43.55:99 -chr1 1902361 rs35032062 A G 8.53 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=3;HaplotypeScore=1.19;MQ=56.62;MQ0=0;OQ=288.56;QD=9.31;SB=-81.77 GT:AD:DP:GL:GQ 0/1:15,16:27:-40.29,-8.15,-49.29:99 -chr1 1902443 rs4648742 T G 2.74 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=3;HaplotypeScore=1.88;MQ=52.64;MQ0=0;OQ=307.57;QD=13.98;SB=-102.98 GT:AD:DP:GL:GQ 0/1:8,14:19:-39.76,-5.72,-27.07:99 -chr1 1902590 rs34957887 A G 5.37 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=54.60;MQ0=0;OQ=111.21;QD=3.83;SB=-42.82 GT:AD:DP:GL:GQ 0/1:21,8:27:-22.55,-8.14,-76.38:99 -chr1 1902594 rs34699657 T C 6.89 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=55.30;MQ0=0;OQ=114.19;QD=4.08;SB=-28.64 GT:AD:DP:GL:GQ 0/1:19,9:26:-22.55,-7.85,-71.28:99 -chr1 1902618 rs13302917 G C 80.21 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=55.30;MQ0=0;OQ=235.26;QD=8.40;SB=8.06 GT:AD:DP:GL:GQ 0/1:18,10:26:-34.65,-7.84,-76.52:99 -chr1 1902752 . G A 16.41 LowQual AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=23.04;MQ0=3;QD=0.82;SB=-30.52 GT:AD:DP:GL:GQ 0/1:17,3:9:-7.63,-2.71,-23.66:49.15 -chr1 1902780 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=0;HaplotypeScore=12.84;MQ=20.15;MQ0=3;OQ=68.78;QD=3.62;SB=-7.00 GT:AD:DP:GL:GQ 0/1:14,5:6:-11.97,-1.81,-9.13:73.25 -chr1 1902787 . G A 0.55 PASS AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=20.15;MQ0=3;OQ=103.65;QD=5.46;SB=-46.55 GT:AD:DP:GL:GQ 0/1:13,6:5:-15.16,-1.51,-3.80:22.92 -chr1 1902803 . A G 0.43 PASS AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=19.89;MQ0=3;OQ=59.98;QD=3.75;SB=-6.99 GT:AD:DP:GL:GQ 0/1:11,5:6:-11.09,-1.81,-11.69:92.82 -chr1 1902817 . T C 41.42 LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=9.95;MQ=22.02;MQ0=2;QD=2.96;SB=-35.94 GT:AD:DP:GL:GQ 0/1:9,4:6:-9.23,-1.81,-11.87:74.25 -chr1 1902835 rs61776983 A C 26.37 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=1.55;MQ=20.97;MQ0=2;OQ=78.83;QD=5.63;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,12:3:-11.37,-0.90,-0.00:9.03 -chr1 1903052 . G A 0.07 PASS AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=0;HaplotypeScore=10.18;MQ=21.19;MQ0=5;OQ=185.24;QD=7.12;SB=-114.97 GT:AD:DP:GL:GQ 0/1:13,13:10:-24.83,-3.02,-9.74:67.23 -chr1 1903096 . C T 19.36 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=27.09;MQ=29.12;MQ0=4;QD=0.84;SB=-32.50 GT:AD:DP:GL:GQ 0/1:20,3:10:-8.23,-3.01,-26.23:52.14 -chr1 1903103 . G A 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=11.25;MQ=32.31;MQ0=4;OQ=203.36;QD=8.13;SB=-108.63 GT:AD:DP:GL:GQ 0/1:11,14:13:-27.54,-3.92,-21.98:99 -chr1 1903122 . G A 1.51 PASS AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=5.86;MQ=37.50;MQ0=2;OQ=277.72;QD=11.11;SB=-116.63 GT:AD:DP:GL:GQ 0/1:11,14:14:-35.28,-4.22,-14.88:99 -chr1 1903133 . C T 26.70 DPFilter;HARD_TO_VALIDATE;Indel;LowQual AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=0;HaplotypeScore=14.79;MQ=33.51;MQ0=4;QD=0.92;SB=2.00 GT:AD:DP:GL:GQ 0/1:25,3:16:-10.78,-4.83,-41.60:59.53 -chr1 1903194 . G A 0.17 PASS AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=22.60;MQ0=6;OQ=59.87;QD=3.15;SB=-29.63 GT:AD:DP:GL:GQ 0/1:15,4:8:-11.68,-2.41,-15.55:92.71 -chr1 1903256 rs56273126 A C 0.43 PASS AC=1;AF=0.50;AN=2;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=9.88;MQ=34.34;MQ0=2;OQ=157.91;QD=8.77;SB=-43.00 GT:AD:DP:GL:GQ 0/1:8,10:11:-22.39,-3.31,-17.60:99 -chr1 1903263 rs56067355 C T 0.21 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=9.27;MQ=35.40;MQ0=1;OQ=103.77;QD=4.72;SB=-3.99 GT:AD:DP:GL:GQ 0/1:16,6:17:-18.78,-5.12,-41.68:99 -chr1 1903283 . G A 8.07 PASS AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=3.95;MQ=39.68;MQ0=0;OQ=372.77;QD=10.96;SB=-73.09 GT:AD:DP:GL:GQ 0/1:17,16:22:-47.20,-6.63,-29.71:99 -chr1 1903404 . C T 39.84 LowQual AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=6.15;MQ=48.13;MQ0=1;QD=1.73;SB=-35.65 GT:AD:DP:GL:GQ 0/1:19,4:16:-12.09,-4.83,-40.40:72.68 -chr1 1903423 rs58434854 A G 0.71 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=7.95;MQ=46.73;MQ0=3;OQ=182.58;QD=6.30;SB=-71.95 GT:AD:DP:GL:GQ 0/1:18,11:23:-28.48,-6.94,-51.85:99 -chr1 1903439 rs58923167 C T 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=17.53;MQ=42.29;MQ0=6;OQ=136.42;QD=4.01;SB=-25.62 GT:AD:DP:GL:GQ 0/1:26,8:22:-23.56,-6.63,-53.26:99 -chr1 1903440 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=17.53;MQ=42.29;MQ0=6;OQ=187.84;QD=5.52;SB=-110.54 GT:AD:DP:GL:GQ 0/1:26,8:23:-29.00,-6.94,-48.31:99 -chr1 1903458 rs55879512 A G 0.08 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=7.35;MQ=44.38;MQ0=5;OQ=75.85;QD=1.85;SB=-63.75 GT:AD:DP:GL:GQ 0/1:26,14:24:-18.11,-7.24,-65.52:99 -chr1 1903493 . G A 1.04 PASS AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.77;MQ=47.31;MQ0=2;OQ=168.07;QD=4.31;SB=-57.28 GT:AD:DP:GL:GQ 0/1:31,8:25:-27.63,-7.54,-58.38:99 -chr1 1903509 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=11.62;MQ=39.25;MQ0=5;OQ=92.69;QD=2.73;SB=5.04 GT:AD:DP:GL:GQ 0/1:25,9:18:-17.98,-5.43,-46.46:99 -chr1 1903540 . G A 33.23 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=1;HaplotypeScore=27.81;MQ=22.93;MQ0=9;QD=1.15;SB=-3.98 GT:AD:DP:GL:GQ 0/1:26,3:5:-8.11,-1.51,-11.06:66.06 -chr1 1903547 . T A 34.51 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=0;HaplotypeScore=29.76;MQ=15.81;MQ0=9;QD=1.33;SB=-42.38 GT:AD:DP:GL:GQ 0/1:19,6:3:-7.64,-0.90,-3.64:27.36 -chr1 1903587 rs4648605 C T 0.08 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=14.50;MQ=19.08;MQ0=11;OQ=79.27;QD=1.98;SB=-3.99 GT:AD:DP:GL:GQ 0/1:27,13:10:-14.23,-3.02,-19.87:99 -chr1 1904125 rs4648745 T C 247.21 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=59.25;MQ0=0;OQ=694.34;QD=11.20;SB=-245.29 GT:AD:DP:GL:GQ 0/1:33,29:61:-91.10,-18.39,-129.32:99 -chr1 1904347 rs4648746 A G 176.14 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=59.39;MQ0=0;OQ=338.48;QD=8.91;SB=-150.90 GT:AD:DP:GL:GQ 0/1:21,17:36:-47.98,-10.85,-82.55:99 -chr1 1904465 rs28737396 A T 328.52 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1094.85;QD=18.56;SB=-354.42 GT:AD:DP:GL:GQ 0/1:24,35:59:-130.54,-17.77,-93.43:99 -chr1 1904806 rs61776990 C T 103.75 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=56.91;MQ0=0;OQ=639.60;QD=17.29;SB=-221.92 GT:AD:DP:GL:GQ 0/1:15,22:35:-77.80,-10.56,-46.60:99 -chr1 1905885 rs4648747 G A 213.38 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=54.80;MQ0=0;OQ=758.00;QD=15.16;SB=-295.79 GT:AD:DP:GL:GQ 0/1:26,24:49:-93.85,-14.76,-88.23:99 -chr1 1905894 rs13303091 C T 219.74 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=53.79;MQ0=0;OQ=656.87;QD=13.14;SB=-261.28 GT:AD:DP:GL:GQ 0/1:27,22:45:-82.54,-13.57,-75.64:99 -chr1 1905900 rs13302998 T C 119.27 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=54.88;MQ0=0;OQ=405.99;QD=8.83;SB=-193.60 GT:AD:DP:GL:GQ 0/1:27,19:44:-57.15,-13.26,-102.12:99 -chr1 1906158 rs13302999 C T 171.25 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.70;MQ=58.63;MQ0=0;OQ=813.49;QD=15.95;SB=-262.17 GT:AD:DP:GL:GQ 0/1:25,26:49:-99.40,-14.77,-77.74:99 -chr1 1906389 rs3795284 C T 21.30 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=3;HaplotypeScore=2.33;MQ=60.00;MQ0=0;OQ=758.20;QD=14.04;SB=-278.28 GT:AD:DP:GL:GQ 0/1:28,26:52:-94.77,-15.67,-93.68:99 -chr1 1906447 rs3795283 G T 377.61 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.33;MQ=60.00;MQ0=0;OQ=998.45;QD=16.37;SB=-378.14 GT:AD:DP:GL:GQ 0/1:26,35:60:-121.20,-18.07,-93.96:99 -chr1 1906750 rs3795280 C T 425.49 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.55;MQ0=0;OQ=568.99;QD=13.55;SB=-250.75 GT:AD:DP:GL:GQ 0/1:24,18:42:-72.83,-12.65,-87.72:99 -chr1 1906918 rs34331632 A G 117.25 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=58.45;MQ0=0;OQ=396.71;QD=8.82;SB=-212.27 GT:AD:DP:GL:GQ 0/1:26,19:41:-55.32,-12.36,-92.05:99 -chr1 1907309 rs34567059 T G 9.37 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=3;HaplotypeScore=0.99;MQ=59.28;MQ0=0;OQ=266.80;QD=8.34;SB=-138.72 GT:AD:DP:GL:GQ 0/1:18,13:26:-37.80,-7.84,-51.38:99 -chr1 1907332 rs13303173 G A 219.11 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.91;MQ=59.50;MQ0=0;OQ=402.42;QD=8.75;SB=-215.71 GT:AD:DP:GL:GQ 0/1:30,16:41:-55.89,-12.37,-85.41:99 -chr1 1907475 rs13302992 A T 11.71 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=5.57;MQ=54.24;MQ0=0;OQ=373.16;QD=8.88;SB=-86.42 GT:AD:DP:GL:GQ 0/1:20,21:33:-50.55,-9.95,-63.90:99 -chr1 1907510 rs13302993 T C 10.65 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=3;HaplotypeScore=3.38;MQ=53.93;MQ0=0;OQ=691.42;QD=12.35;SB=-327.29 GT:AD:DP:GL:GQ 0/1:24,32:51:-87.80,-15.38,-95.79:99 -chr1 1907689 rs4648748 T G 25.50 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.34;MQ=60.00;MQ0=0;OQ=189.73;QD=5.93;SB=-95.86 GT:AD:DP:GL:GQ 0/1:21,11:31:-31.60,-9.34,-75.09:99 -chr1 1907731 rs4648749 T A 88.57 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=58.55;MQ0=0;OQ=1056.82;QD=33.03;SB=-482.74 GT:AD:DP:GL:GQ 1/1:0,32:31:-109.29,-9.34,-0.02:93.25 -chr1 1907768 rs4648750 A C 41.15 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.92;MQ=58.69;MQ0=0;OQ=501.71;QD=15.68;SB=-178.91 GT:AD:DP:GL:GQ 0/1:13,18:31:-62.79,-9.34,-46.86:99 -chr1 1908051 rs4233028 A G 0.83 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=11.36;MQ=58.24;MQ0=0;OQ=590.53;QD=10.36;SB=-318.09 GT:AD:DP:GL:GQ 0/1:28,29:51:-77.71,-15.37,-108.19:99 -chr1 1908348 rs4350140 A G 295.92 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=60.00;MQ0=0;OQ=483.27;QD=11.51;SB=-249.48 GT:AD:DP:GL:GQ 0/1:22,19:40:-63.66,-12.05,-87.28:99 -chr1 1908395 rs4535948 A T 243.05 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=60.00;MQ0=0;OQ=561.16;QD=14.03;SB=-291.34 GT:AD:DP:GL:GQ 0/1:20,20:38:-70.85,-11.45,-68.83:99 -chr1 1908444 rs4603072 C T 95.97 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=3.91;MQ=59.00;MQ0=0;OQ=825.49;QD=16.19;SB=-274.16 GT:AD:DP:GL:GQ 0/1:24,27:46:-99.69,-13.86,-72.18:99 -chr1 1908455 rs4466593 G A 154 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=59.00;MQ0=0;OQ=749.94;QD=14.70;SB=-209.69 GT:AD:DP:GL:GQ 0/1:25,26:47:-92.45,-14.17,-73.64:99 -chr1 1910822 rs13303020 T C 316 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=58.07;MQ0=0;OQ=856.90;QD=15.30;SB=-348.06 GT:AD:DP:GL:GQ 0/1:22,34:54:-105.26,-16.29,-79.82:99 -chr1 1912163 rs13303195 C T 281.64 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.42;MQ0=0;OQ=1071.80;QD=15.76;SB=-460.45 GT:AD:DP:GL:GQ 0/1:35,33:67:-130.66,-20.19,-113.97:99 -chr1 1912512 rs13303233 T C 59.35 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=5.24;MQ=56.21;MQ0=1;OQ=632.02;QD=12.15;SB=-238.92 GT:AD:DP:GL:GQ 0/1:24,28:49:-81.26,-14.77,-90.12:99 -chr1 1912694 rs6605075 T C 195.05 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.81;MQ0=0;OQ=3518.98;QD=36.28;SB=-1667.64 GT:AD:DP:GL:GQ 1/1:0,97:97:-350.90,-29.22,-0.04:99 -chr1 1912989 rs13303332 A G 477.80 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.92;MQ0=0;OQ=1063.77;QD=12.66;SB=-392.88 GT:AD:DP:GL:GQ 0/1:42,42:74:-131.95,-22.29,-145.18:99 -chr1 1913060 rs13303315 T C 275.58 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=55.32;MQ0=0;OQ=932.62;QD=13.14;SB=-432.88 GT:AD:DP:GL:GQ 0/1:32,39:67:-116.74,-20.20,-124.71:99 -chr1 1913077 rs7529662 A G 28.09 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=4.09;MQ=51.94;MQ0=0;OQ=415.73;QD=6.60;SB=-158.33 GT:AD:DP:GL:GQ 0/1:37,26:55:-61.45,-16.59,-136.84:99 -chr1 1913121 rs6605076 G A 18.01 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=2.95;MQ=38.45;MQ0=0;OQ=1375.58;QD=22.55;SB=-647.86 GT:AD:DP:GL:GQ 1/1:0,60:36:-143.81,-13.38,-2.67:99 -chr1 1913134 rs6662056 C T 90.11 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=31.19;MQ0=0;OQ=470.14;QD=8.11;SB=-253.79 GT:AD:DP:GL:GQ 0/1:33,25:32:-59.95,-9.65,-52.35:99 -chr1 1913140 rs6605077 T C 265.58 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=26.77;MQ0=0;OQ=931.68;QD=17.25;SB=-415.14 GT:AD:DP:GL:GQ 1/1:0,54:27:-96.76,-8.13,-0.01:81.23 -chr1 1913166 rs6605078 A G 225.40 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=29.40;MQ0=0;OQ=379.61;QD=9.73;SB=-193.70 GT:AD:DP:GL:GQ 1/1:0,39:13:-41.56,-3.92,-0.01:39.09 -chr1 1913525 rs13303140 A G 349.47 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.90;MQ0=0;OQ=337.35;QD=9.92;SB=-170.51 GT:AD:DP:GL:GQ 0/1:16,18:26:-44.86,-7.84,-45.87:99 -chr1 1913541 rs6675865 A G 238.98 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=54.81;MQ0=0;OQ=476.22;QD=12.53;SB=-203.64 GT:AD:DP:GL:GQ 0/1:19,19:32:-60.55,-9.64,-59.13:99 -chr1 1914266 rs35822535 A G 10.16 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=4.48;MQ=52.01;MQ0=0;OQ=172.60;QD=5.57;SB=-106.80 GT:AD:DP:GL:GQ 0/1:17,12:25:-30.72,-10.17,-62.92:99 -chr1 1914406 rs28674034 C A 137.53 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.38;MQ=56.09;MQ0=0;OQ=479.30;QD=11.15;SB=-93.09 GT:AD:DP:GL:GQ 0/1:24,19:37:-62.36,-11.14,-73.40:99 -chr1 1914407 . C G 17.06 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=1;HaplotypeScore=1.38;MQ=56.18;MQ0=0;OQ=578.11;QD=13.14;SB=-126.71 GT:AD:DP:GL:GQ 0/1:24,20:35:-71.66,-10.56,-69.93:99 -chr1 1914645 rs58504758 G A 76.95 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=56.31;MQ0=0;OQ=649.38;QD=14.43;SB=-87.56 GT:AD:DP:GL:GQ 0/1:23,22:44:-81.48,-13.26,-81.33:99 -chr1 1914669 rs57460771 C G 59.99 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=52.90;MQ0=0;OQ=635.24;QD=15.88;SB=-152.79 GT:AD:DP:GL:GQ 0/1:17,23:37:-77.97,-11.16,-71.80:99 -chr1 1915019 rs5021356 C T 38.12 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=38.83;MQ0=0;OQ=299.26;QD=5.16;SB=-51.25 GT:AD:DP:GL:GQ 0/1:26,32:29:-41.96,-8.75,-54.57:99 -chr1 1915025 rs5021357 C T 0.49 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=37.79;MQ0=0;OQ=104.46;QD=1.66;SB=-36.16 GT:AD:DP:GL:GQ 0/1:31,32:32:-23.37,-9.64,-89.65:99 -chr1 1915153 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=0;HaplotypeScore=18.97;MQ=41.21;MQ0=1;OQ=317.64;QD=7.56;SB=-31.63 GT:AD:DP:GL:GQ 0/1:23,16:24:-42.29,-7.24,-39.07:99 -chr1 1915186 rs2377036 C A 0.52 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=2.46;MQ=38.80;MQ0=2;OQ=789.31;QD=23.22;SB=-127.84 GT:AD:DP:GL:GQ 1/1:3,31:25:-82.54,-7.54,-0.02:75.13 -chr1 1915197 . C T 2.41 PASS AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=35.96;MQ0=2;OQ=151.83;QD=4.34;SB=2.02 GT:AD:DP:GL:GQ 0/1:24,11:24:-25.70,-7.23,-56.48:99 -chr1 1915324 rs2889540 C T 459.53 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.97;MQ0=0;OQ=2370.24;QD=35.38;SB=-497.01 GT:AD:DP:GL:GQ 1/1:1,66:63:-240.64,-18.99,-0.03:99 -chr1 1915581 rs6691182 G A 155.40 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=1.77;MQ=58.09;MQ0=0;OQ=1565.00;QD=18.20;SB=-799.86 GT:AD:DP:GL:GQ 0/1:40,46:84:-185.10,-25.32,-125.47:99 -chr1 1915947 rs6661597 T C 434.36 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.43;MQ0=0;OQ=753.37;QD=11.59;SB=-273.59 GT:AD:DP:GL:GQ 0/1:32,33:62:-97.31,-18.69,-126.97:99 -chr1 1915962 rs6675751 G C 346.68 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1124.09;QD=17.56;SB=-315.97 GT:AD:DP:GL:GQ 0/1:34,30:64:-134.99,-19.30,-134.99:99 -chr1 1916138 rs6667687 A T 24.65 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=5.93;MQ=59.44;MQ0=0;OQ=1046.27;QD=14.14;SB=-543.64 GT:AD:DP:GL:GQ 0/1:37,36:71:-129.30,-21.39,-135.06:99 -chr1 1917124 rs13302991 A G 77.08 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=48.19;MQ0=0;OQ=664.15;QD=15.09;SB=-132.68 GT:AD:DP:GL:GQ 0/1:17,27:41:-82.05,-12.36,-62.14:99 -chr1 1918235 rs58325500 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.01;HRun=15;HaplotypeScore=12.28;MQ=47.41;MQ0=2;OQ=54.80;QD=0.68;SB=8.48 GT:AD:DP:GL:GQ 0/1:66,14:56:-25.35,-16.59,-150.42:87.64 -chr1 1918448 rs28827857 G A 289.35 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=57.61;MQ0=0;OQ=1091.40;QD=15.82;SB=-363.89 GT:AD:DP:GL:GQ 0/1:36,33:66:-132.32,-19.90,-105.59:99 -chr1 1918459 rs28770275 C T 156.31 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.33;MQ0=0;OQ=990.70;QD=15.98;SB=-272.19 GT:AD:DP:GL:GQ 0/1:31,31:62:-121.04,-18.69,-98.12:99 -chr1 1919267 rs6672175 T C 222.23 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=3.35;MQ=59.22;MQ0=0;OQ=1139.84;QD=14.61;SB=-513.90 GT:AD:DP:GL:GQ 0/1:38,40:77:-140.46,-23.19,-152.92:99 -chr1 1919526 rs7532409 A G 229.15 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.27;MQ0=0;OQ=832.47;QD=13.21;SB=-385.03 GT:AD:DP:GL:GQ 0/1:26,37:58:-104.01,-17.48,-104.69:99 -chr1 1919694 rs7532529 A C 228.41 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=57.10;MQ0=0;OQ=714.32;QD=14.58;SB=-265.84 GT:AD:DP:GL:GQ 0/1:24,25:47:-88.87,-14.15,-84.13:99 -chr1 1919719 rs7527169 T C 335.23 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.16;MQ0=0;OQ=729.87;QD=16.59;SB=-259.34 GT:AD:DP:GL:GQ 0/1:16,28:43:-89.23,-12.96,-64.51:99 -chr1 1919737 rs7520124 C A 233.30 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.52;MQ0=0;OQ=916.99;QD=20.84;SB=-414.85 GT:AD:DP:GL:GQ 0/1:15,29:44:-108.24,-13.26,-45.66:99 -chr1 1919954 rs7542825 G A 154.86 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.45;MQ=58.01;MQ0=0;OQ=805.39;QD=15.79;SB=-224.54 GT:AD:DP:GL:GQ 0/1:26,25:50:-98.90,-15.08,-78.21:99 -chr1 1920251 rs6605079 C G 333.78 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.95;MQ0=0;OQ=1146.24;QD=15.08;SB=-200.61 GT:AD:DP:GL:GQ 0/1:45,31:76:-140.81,-22.90,-188.17:99 -chr1 1920372 rs6605080 A G 234.56 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=57.79;MQ0=0;OQ=682.29;QD=12.87;SB=-281.00 GT:AD:DP:GL:GQ 0/1:25,28:47:-85.67,-14.16,-99.05:99 -chr1 1920614 rs6605081 C T 426.14 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.03;MQ=58.39;MQ0=0;OQ=1403.83;QD=17.12;SB=-667.29 GT:AD:DP:GL:GQ 0/1:39,43:80:-167.77,-24.10,-135.75:99 -chr1 1920665 rs6605082 G C 238.27 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=58.49;MQ0=0;OQ=1324.95;QD=16.99;SB=-669.29 GT:AD:DP:GL:GQ 0/1:42,36:76:-158.70,-22.92,-158.25:99 -chr1 1920803 rs13303035 C T 159 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=2.47;MQ=59.45;MQ0=0;OQ=1062.14;QD=13.98;SB=-530.37 GT:AD:DP:GL:GQ 0/1:41,35:73:-131.51,-22.01,-125.50:99 -chr1 1920841 rs13303352 T C 445.18 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.82;MQ0=0;OQ=837.48;QD=11.63;SB=-306.06 GT:AD:DP:GL:GQ 0/1:38,34:70:-108.13,-21.10,-146.79:99 -chr1 1921055 rs13303031 G T 88.89 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=1.13;MQ=58.92;MQ0=0;OQ=786.34;QD=15.12;SB=-342.30 GT:AD:DP:GL:GQ 0/1:26,26:52:-97.58,-15.66,-91.48:99 -chr1 1921356 rs6685055 A G 17.33 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=2.97;MQ=59.49;MQ0=0;OQ=448.41;QD=9.96;SB=-237.28 GT:AD:DP:GL:GQ 0/1:26,19:44:-61.39,-13.26,-100.60:99 -chr1 1921389 rs6679335 T G 83.14 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=1.67;MQ=59.13;MQ0=0;OQ=685.03;QD=12.93;SB=-353.06 GT:AD:DP:GL:GQ 0/1:29,24:52:-87.45,-15.66,-100.08:99 -chr1 1922327 rs28588769 G A 183.28 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=58.89;MQ0=1;OQ=778.96;QD=15.58;SB=-259.18 GT:AD:DP:GL:GQ 0/1:25,25:47:-95.35,-14.17,-73.16:99 -chr1 1922868 rs2376808 G A 157.54 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=59.34;MQ0=0;OQ=723.69;QD=10.34;SB=-347.08 GT:AD:DP:GL:GQ 0/1:45,25:64:-94.96,-19.30,-123.08:99 -chr1 1922895 rs2376807 G A 266.63 PASS AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=58.98;MQ0=0;OQ=1217.48;QD=13.99;SB=-488.00 GT:AD:DP:GL:GQ 0/1:49,38:84:-150.33,-25.30,-168.79:99 -chr1 1923727 rs4434797 T C 63.04 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.46;MQ0=0;OQ=1150.76;QD=28.77;SB=-542.44 GT:AD:DP:GL:GQ 1/1:1,39:35:-118.68,-10.55,-0.02:99 -chr1 1923976 rs2376806 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=7;HaplotypeScore=3.79;MQ=59.30;MQ0=0;OQ=886.58;QD=14.78;SB=-242.95 GT:AD:DP:GL:GQ 0/1:31,29:60:-110.01,-18.07,-107.98:99 -chr1 1924507 rs6682175 C G 459.83 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.45;MQ0=0;OQ=1286.38;QD=16.93;SB=-654.00 GT:AD:DP:GL:GQ 0/1:39,37:74:-154.22,-22.30,-163.90:99 -chr1 1925440 . A C 17.47 PASS AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=54.31;MQ0=0;OQ=233.12;QD=9.71;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,12:20:-32.62,-6.03,-38.03:99 -chr1 1925994 rs13303219 G A 173.92 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=58.24;MQ0=0;OQ=2130.07;QD=38.04;SB=-927.23 GT:AD:DP:GL:GQ 1/1:0,56:55:-216.61,-16.57,-0.02:99 -chr1 1927245 . C A 6.32 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.74;MQ=50.81;MQ0=0;OQ=1490.54;QD=26.15;SB=-627.15 GT:AD:DP:GL:GQ 0/1:11,46:54:-168.60,-16.27,-27.03:99 -chr1 1929194 . G A 93.04 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=1;HaplotypeScore=1.76;MQ=54.76;MQ0=0;OQ=934.74;QD=16.40;SB=-478.51 GT:AD:DP:GL:GQ 0/1:29,28:56:-113.63,-16.87,-101.37:99 -chr1 1929934 . G A 0.59 PASS AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=6.95;MQ=58.36;MQ0=1;OQ=902.25;QD=19.20;SB=-435.95 GT:AD:DP:GL:GQ 0/1:20,27:46:-107.37,-13.86,-69.60:99 -chr1 1931518 rs6605072 C T 176.76 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=58.65;MQ0=0;OQ=1960.94;QD=37.71;SB=-913.32 GT:AD:DP:GL:GQ 1/1:0,52:51:-199.70,-15.37,-0.02:99 -chr1 1931688 rs13303071 T C 1556.10 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=48.24;MQ0=0;QD=27.79;SB=-792.66 GT:AD:DP:GL:GQ 1/1:0,56:50:-159.24,-15.08,-0.05:99 -chr1 1931693 . A G 1848.16 SnpCluster AC=2;AF=1.00;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=49.03;MQ0=0;QD=33.60;SB=-934.96 GT:AD:DP:GL:GQ 1/1:0,55:53:-188.42,-15.97,-0.02:99 -chr1 1931694 . T A 1917.61 SnpCluster AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=49.24;MQ0=0;QD=35.51;SB=-952.61 GT:AD:DP:GL:GQ 1/1:0,54:52:-195.36,-15.66,-0.02:99 -chr1 1931789 rs6656398 G A 540.24 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.77;MQ0=0;OQ=2040.90;QD=38.51;SB=-804.04 GT:AD:DP:GL:GQ 1/1:0,53:51:-207.69,-15.36,-0.01:99 -chr1 1931893 rs13303124 C A 616.35 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.54;MQ0=0;OQ=2901.26;QD=36.72;SB=-1390.14 GT:AD:DP:GL:GQ 1/1:0,79:79:-293.73,-23.79,-0.02:99 -chr1 1933151 rs6672254 C T 447.19 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=1292.37;QD=33.14;SB=-431.53 GT:AD:DP:GL:GQ 1/1:0,39:34:-132.84,-10.25,-0.02:99 -chr1 1933961 rs6605073 C G 112.88 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=54.93;MQ0=0;OQ=3433.93;QD=42.39;SB=-1558.19 GT:AD:DP:GL:GQ 1/1:0,81:81:-342.39,-24.42,-0.04:99 -chr1 1936451 rs13303016 G A 86.32 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.29;MQ=58.88;MQ0=0;OQ=2221.58;QD=38.30;SB=-691.42 GT:AD:DP:GL:GQ 1/1:0,56:56:-225.76,-16.87,-0.02:99 -chr1 1936669 rs4648752 C T 217.65 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=60.00;MQ0=0;OQ=2508.96;QD=37.45;SB=-1210.99 GT:AD:DP:GL:GQ 1/1:0,67:64:-254.50,-19.28,-0.02:99 -chr1 1937615 rs2376804 C A 568.58 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.26;MQ0=0;OQ=1581.66;QD=34.38;SB=-723.87 GT:AD:DP:GL:GQ 1/1:0,46:45:-161.77,-13.56,-0.02:99 -chr1 1938260 rs13303344 C A 671.62 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.98;MQ0=0;OQ=1865.08;QD=33.91;SB=-728.87 GT:AD:DP:GL:GQ 1/1:0,55:54:-190.12,-16.27,-0.02:99 -chr1 1938665 rs4481796 T C 1.68 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=7.00;MQ=59.19;MQ0=0;OQ=1999.82;QD=33.90;SB=-790.00 GT:AD:DP:GL:GQ 1/1:1,58:55:-203.58,-16.56,-0.01:99 -chr1 1939404 rs3121818 G T 55.95 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=57.70;MQ0=0;OQ=2038.83;QD=32.88;SB=-977.56 GT:AD:DP:GL:GQ 1/1:1,61:60:-210.75,-18.07,-3.28:99 -chr1 1940481 rs28603108 G A 85.60 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=244.10;QD=30.51;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,8:7:-27.99,-2.11,-0.00:21.07 -chr1 1941687 rs3121819 A G 228.42 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=2020.01;QD=32.58;SB=-994.40 GT:AD:DP:GL:GQ 1/1:0,62:62:-205.63,-18.69,-0.05:99 -chr1 1942465 rs28502222 T C 371.08 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.43;MQ0=0;OQ=1719.40;QD=30.16;SB=-855.54 GT:AD:DP:GL:GQ 1/1:0,57:54:-175.57,-16.29,-0.05:99 -chr1 1942470 rs28407473 T C 563.92 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.48;MQ0=0;OQ=1937.81;QD=31.25;SB=-894.53 GT:AD:DP:GL:GQ 1/1:0,62:60:-197.41,-18.09,-0.05:99 -chr1 1942642 rs3128318 C A 368.40 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.81;MQ0=0;OQ=1363.24;QD=34.95;SB=-493.39 GT:AD:DP:GL:GQ 1/1:0,39:38:-139.92,-11.45,-0.01:99 -chr1 1943112 rs3128321 T C 309.66 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.60;MQ0=0;OQ=865.40;QD=28.85;SB=-224.64 GT:AD:DP:GL:GQ 1/1:0,30:27:-90.14,-8.14,-0.02:81.21 -chr1 1943436 rs28595482 G A 148.08 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.62;MQ0=0;OQ=1902.67;QD=38.83;SB=-885.18 GT:AD:DP:GL:GQ 1/1:0,49:48:-193.87,-14.46,-0.01:99 -chr1 1943672 rs4648614 C T 198.11 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.32;MQ0=0;OQ=2028.99;QD=36.89;SB=-959.37 GT:AD:DP:GL:GQ 1/1:0,55:53:-206.51,-15.97,-0.03:99 -chr1 1944296 rs3128322 G A 216.26 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=59.01;MQ0=0;OQ=2427.18;QD=36.78;SB=-1173.08 GT:AD:DP:GL:GQ 1/1:0,65:64:-246.33,-19.29,-0.03:99 -chr1 1944940 rs3128323 G A 20.33 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=59.13;MQ0=0;OQ=1516.55;QD=28.61;SB=-577.76 GT:AD:DP:GL:GQ 1/1:0,53:41:-155.26,-12.36,-0.02:99 -chr1 1945844 rs2889475 C T 626.28 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.31;MQ0=0;OQ=2161.84;QD=35.44;SB=-988.03 GT:AD:DP:GL:GQ 1/1:0,61:56:-219.79,-16.87,-0.02:99 -chr1 1946222 rs2376805 G A 202.65 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=58.86;MQ0=0;OQ=2273.19;QD=37.27;SB=-1064.36 GT:AD:DP:GL:GQ 1/1:0,61:58:-230.92,-17.47,-0.02:99 -chr1 1946897 rs2229110 T C 11.35 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=1.69;MQ=58.29;MQ0=0;OQ=1169.00;QD=28.51;SB=-410.54 GT:AD:DP:GL:GQ 1/1:1,40:35:-120.50,-10.54,-0.02:99 -chr1 1947159 rs3820007 C T 19.86 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=1.67;MQ=59.17;MQ0=0;OQ=557.21;QD=19.90;SB=-159.09 GT:AD:DP:GL:GQ 1/1:0,24:17:-62.02,-7.79,-2.71:50.81 -chr1 1949121 rs28574670 A G 500.63 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=1666.55;QD=35.46;SB=-850.35 GT:AD:DP:GL:GQ 1/1:0,47:47:-170.25,-14.16,-0.02:99 -chr1 1949838 rs28409373 C T 14.57 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.07;MQ0=0;OQ=1034.54;QD=34.48;SB=-177.68 GT:AD:DP:GL:GQ 1/1:0,30:29:-107.06,-8.75,-0.02:87.26 -chr1 1950786 rs28581504 T C 332.55 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.64;MQ0=0;OQ=1013.22;QD=32.68;SB=-423.78 GT:AD:DP:GL:GQ 1/1:0,31:30:-104.92,-9.04,-0.02:90.23 -chr1 1953035 rs13302932 A G 11.68 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=3.55;MQ=60.00;MQ0=0;OQ=905.11;QD=24.46;SB=-434.83 GT:AD:DP:GL:GQ 1/1:0,37:30:-94.12,-9.05,-0.03:90.20 -chr1 1953275 rs17715203 A G 438.40 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.38;MQ0=0;OQ=1126.75;QD=30.45;SB=-438.29 GT:AD:DP:GL:GQ 1/1:0,37:35:-116.28,-10.55,-0.02:99 -chr1 1955750 . G C 30.56 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=3;HaplotypeScore=5.70;MQ=42.68;MQ0=2;QD=0.27;SB=83.98 GT:AD:DP:GL:GQ 0/1:64,50:68:-26.83,-20.49,-269.17:63.39 -chr1 1955789 . C G 28.79 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=1;HaplotypeScore=3.29;MQ=41.60;MQ0=2;QD=0.26;SB=62.45 GT:AD:DP:GL:GQ 0/1:60,50:64:-25.45,-19.29,-247.08:61.62 -chr1 1956476 rs3128311 A G 7.52 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=2;HaplotypeScore=2.79;MQ=58.13;MQ0=0;OQ=1189.30;QD=33.98;SB=-560.89 GT:AD:DP:GL:GQ 1/1:0,35:34:-122.53,-10.24,-0.01:99 -chr1 1956519 rs3128312 A G 0.03 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=5;HaplotypeScore=2.16;MQ=57.85;MQ0=0;OQ=1010.92;QD=30.63;SB=-251.77 GT:AD:DP:GL:GQ 1/1:0,33:30:-104.69,-9.04,-0.02:90.25 -chr1 1956874 . G A 318.30 PASS AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.05;MQ0=0;OQ=1884.66;QD=38.46;SB=-687.34 GT:AD:DP:GL:GQ 1/1:0,49:48:-192.06,-14.46,-0.01:99 -chr1 1957814 rs2376803 C T 3.63 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=5.41;MQ=59.46;MQ0=0;OQ=1636.24;QD=38.05;SB=-662.40 GT:AD:DP:GL:GQ 1/1:0,43:42:-167.22,-12.65,-0.01:99 -chr1 1958691 rs9442614 A G 93.39 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.19;MQ0=0;OQ=1548.19;QD=27.16;SB=-690.61 GT:AD:DP:GL:GQ 1/1:0,57:50:-158.45,-15.08,-0.05:99 -chr1 1958819 rs13303086 G A 42.72 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=59.38;MQ0=0;OQ=1355.91;QD=36.65;SB=-559.75 GT:AD:DP:GL:GQ 1/1:0,37:35:-139.19,-10.54,-0.01:99 -chr1 1961249 rs3121820 G C 348.51 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.98;MQ0=0;OQ=1964.71;QD=40.10;SB=-703.68 GT:AD:DP:GL:GQ 1/1:0,49:48:-200.08,-14.47,-0.02:99 -chr1 1964088 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=20;HaplotypeScore=27.35;MQ=45.54;MQ0=0;OQ=216.77;QD=4.93;SB=-12.47 GT:AD:DP:GL:GQ 0/1:28,16:30:-34.00,-9.04,-73.59:99 -chr1 1966711 rs28394674 G T 70.40 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=2.59;MQ=58.47;MQ0=0;OQ=2068.09;QD=33.90;SB=-496.39 GT:AD:DP:GL:GQ 1/1:0,60:58:-210.42,-17.47,-0.02:99 -chr1 1974087 rs3128319 C T 215.82 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.90;MQ=59.66;MQ0=0;OQ=974.85;QD=17.72;SB=-353.37 GT:AD:DP:GL:GQ 0/1:25,30:52:-116.43,-15.67,-87.00:99 -chr1 1974552 rs3121826 A G 92.93 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=58.67;MQ0=0;OQ=1020.08;QD=29.15;SB=-506.02 GT:AD:DP:GL:GQ 1/1:0,35:33:-105.63,-9.96,-0.04:99 -chr1 1974671 rs3121827 G T 491.82 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.58;MQ0=0;OQ=1710.64;QD=34.91;SB=-820.86 GT:AD:DP:GL:GQ 1/1:0,49:48:-174.66,-14.46,-0.02:99 -chr1 1975030 rs35020387 G A 113.28 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=1.07;MQ=60.00;MQ0=0;OQ=1769.06;QD=36.10;SB=-889.65 GT:AD:DP:GL:GQ 1/1:0,49:46:-180.51,-13.86,-0.02:99 -chr1 1982066 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=56.20;MQ0=0;OQ=60.60;QD=2.42;SB=35.14 GT:AD:DP:GL:GQ 0/1:18,7:19:-15.09,-5.75,-56.99:93.44 -chr1 1982837 rs17777295 G T 2.34 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=4.79;MQ=57.88;MQ0=0;OQ=1411.52;QD=35.29;SB=-620.56 GT:AD:DP:GL:GQ 1/1:0,40:39:-144.75,-11.75,-0.01:99 -chr1 1987331 rs56136180 A G 202.47 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=1.52;MQ=55.14;MQ0=0;OQ=1346.89;QD=15.85;SB=-685.93 GT:AD:DP:GL:GQ 0/1:38,47:81:-162.37,-24.40,-147.70:99 -chr1 1989540 rs28479788 G A 186.47 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=3.13;MQ=58.66;MQ0=0;OQ=851.87;QD=16.38;SB=-358.89 GT:AD:DP:GL:GQ 0/1:25,27:48:-102.94,-14.47,-69.44:99 -chr1 1995600 rs2459986 T C 313.08 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.14;MQ0=0;OQ=733.38;QD=27.16;SB=-310.12 GT:AD:DP:GL:GQ 1/1:0,27:25:-76.96,-7.55,-0.03:75.14 -chr1 1996588 rs2678943 T C 52.85 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.08;MQ0=0;OQ=1052.54;QD=26.99;SB=-491.16 GT:AD:DP:GL:GQ 1/1:0,38:34:-108.87,-10.26,-0.03:99 -chr1 1997534 rs2803307 A G 10.35 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=3.74;MQ=59.13;MQ0=0;OQ=1580.39;QD=29.82;SB=-788.60 GT:AD:DP:GL:GQ 1/1:0,53:50:-161.67,-15.08,-0.05:99 -chr1 1999411 . C T 1.67 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=5.65;MQ=58.95;MQ0=0;OQ=1145.66;QD=18.48;SB=-378.12 GT:AD:DP:GL:GQ 0/1:25,36:58:-135.32,-17.47,-87.50:99 -chr1 2004056 rs28436686 G A 119.72 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=59.61;MQ0=0;OQ=2326.78;QD=39.44;SB=-1079.37 GT:AD:DP:GL:GQ 1/1:0,59:59:-236.28,-17.77,-0.01:99 -chr1 2014367 rs9729600 T C 414.10 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.74;MQ0=0;OQ=1723.74;QD=27.36;SB=-655.55 GT:AD:DP:GL:GQ 1/1:0,63:57:-176.03,-17.20,-0.07:99 -chr1 2015467 rs61775405 G A 154 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=3.51;MQ=57.06;MQ0=0;OQ=444.57;QD=10.84;SB=-245.22 GT:AD:DP:GL:GQ 0/1:23,18:37:-58.92,-11.18,-62.94:99 -chr1 2015957 . T A 20.13 LowQual AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=22.77;MQ0=3;QD=0.75;SB=-6.99 GT:AD:DP:GL:GQ 0/1:17,10:5:-6.80,-1.51,-8.98:52.92 -chr1 2015991 . G T 43.95 LowQual AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.44;MQ=23.36;MQ0=2;QD=1.19;SB=-6.99 GT:AD:DP:GL:GQ 0/1:34,3:8:-10.09,-2.41,-13.96:76.78 -chr1 2017284 rs12123775 G A 100.24 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=60.00;MQ0=0;OQ=256.85;QD=11.17;SB=-34.51 GT:AD:DP:GL:GQ 0/1:14,9:22:-35.60,-6.63,-46.44:99 -chr1 2019252 rs3128329 T C 18.82 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=2.93;MQ=58.39;MQ0=0;OQ=1634.16;QD=29.71;SB=-754.64 GT:AD:DP:GL:GQ 1/1:0,55:52:-167.05,-15.69,-0.05:99 -chr1 2019320 . T G 18.93 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=4;HaplotypeScore=7.98;MQ=58.04;MQ0=0;QD=0.34;SB=68.22 GT:AD:DP:GL:GQ 0/1:29,26:34:-15.41,-10.24,-102.90:51.71 -chr1 2019693 . T G 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=51.54;MQ0=0;OQ=164.91;QD=4.34;SB=47.17 GT:AD:DP:GL:GQ 0/1:19,19:29:-28.51,-8.74,-68.55:99 -chr1 2023899 rs7521371 A G 276.27 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=55.14;MQ0=0;OQ=762.93;QD=15.26;SB=-284.46 GT:AD:DP:GL:GQ 0/1:23,27:49:-94.34,-14.76,-92.20:99 -chr1 2025239 rs10910029 A G 201.72 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.60;MQ0=0;OQ=1376.71;QD=29.29;SB=-649.94 GT:AD:DP:GL:GQ 1/1:0,47:44:-141.29,-13.27,-0.04:99 -chr1 2025544 rs10910030 C T 525.81 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1279.25;QD=36.55;SB=-479.12 GT:AD:DP:GL:GQ 1/1:0,35:34:-131.53,-10.25,-0.02:99 -chr1 2025659 rs10752741 G A 653.38 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=2163.55;QD=37.96;SB=-800.07 GT:AD:DP:GL:GQ 1/1:0,57:55:-219.96,-16.57,-0.02:99 -chr1 2025837 rs10752742 G T 4.06 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=6.39;MQ=58.92;MQ0=0;OQ=1340.29;QD=31.17;SB=-640.07 GT:AD:DP:GL:GQ 1/1:0,43:38:-137.63,-11.45,-0.01:99 -chr1 2026123 rs10797413 G A 219.84 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=58.78;MQ0=0;OQ=1381.00;QD=36.34;SB=-700.35 GT:AD:DP:GL:GQ 1/1:0,38:36:-141.70,-10.85,-0.01:99 -chr1 2026457 rs3128332 G T 494.54 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.34;MQ0=0;OQ=1536.71;QD=35.74;SB=-400.25 GT:AD:DP:GL:GQ 1/1:0,43:42:-157.27,-12.65,-0.01:99 -chr1 2027806 . A G 242.28 HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=33.01;MQ0=5;QD=9.69;SB=-135.79 GT:AD:DP:GL:GQ 0/1:9,16:13:-31.43,-3.92,-15.54:99 -chr1 2027817 . A G 86.37 HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=28.31;MQ0=5;QD=5.08;SB=-66.32 GT:AD:DP:GL:GQ 0/1:7,10:8:-14.33,-2.41,-15.43:99 -chr1 2027825 rs7364595 T C 235.65 PASS AC=2;AF=1.00;AN=2;DB;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=23.06;MQ0=5;OQ=93.65;QD=7.80;SB=-40.95 GT:AD:DP:GL:GQ 1/1:0,12:4:-12.90,-1.21,-0.00:12.03 -chr1 2027884 . A G 40.99 LowQual AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=37.48;MQ0=2;QD=4.10;SB=-10.00 GT:AD:DP:GL:GQ 0/1:3,7:4:-8.59,-1.21,-3.37:21.64 -chr1 2027902 . C T 0.78 PASS AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=45.01;MQ0=2;OQ=55.77;QD=3.49;SB=-10.00 GT:AD:DP:GL:GQ 0/1:13,3:11:-12.18,-3.32,-23.75:88.60 -chr1 2027903 . A G 47.94 LowQual AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=45.01;MQ0=2;QD=3.00;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,4:11:-11.39,-3.31,-30.54:80.77 -chr1 2027922 rs61775410 A G 254.38 Indel AC=1;AF=0.50;AN=2;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=10.71;MQ=52.34;MQ0=2;QD=12.11;SB=-40.68 GT:AD:DP:GL:GQ 0/1:8,13:15:-33.24,-4.52,-21.40:99 -chr1 2027961 rs12745429 G A 0.31 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=3.42;MQ=51.66;MQ0=4;OQ=50.47;QD=1.58;SB=-46.03 GT:AD:DP:GL:GQ 0/1:27,5:21:-14.67,-6.34,-51.74:83.30 -chr1 2027962 rs12723086 T C 0.38 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=3.42;MQ=51.66;MQ0=4;OQ=55.89;QD=1.75;SB=-41.82 GT:AD:DP:GL:GQ 0/1:25,7:25:-16.41,-7.54,-72.40:88.73 -chr1 2027980 . A G 0.42 PASS AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=49.52;MQ0=4;OQ=96.12;QD=2.75;SB=-41.28 GT:AD:DP:GL:GQ 0/1:27,8:28:-21.34,-8.45,-80.79:99 -chr1 2027991 . A G 34.81 PASS AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.55;MQ=51.01;MQ0=3;OQ=431.23;QD=9.58;SB=-194.62 GT:AD:DP:GL:GQ 0/1:24,21:36:-57.25,-10.85,-78.85:99 -chr1 2028038 rs7349084 A G 0.09 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=50.77;MQ0=1;OQ=115.20;QD=1.99;SB=-64.54 GT:AD:DP:GL:GQ 0/1:47,10:48:-29.27,-14.47,-151.97:99 -chr1 2028049 rs12133181 A G 36.56 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=65.95;MQ=50.10;MQ0=2;QD=0.48;SB=17.41 GT:AD:DP:GL:GQ 0/1:60,12:63:-25.92,-18.99,-218.94:69.39 -chr1 2028057 rs7514664 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=92.07;MQ=50.08;MQ0=4;OQ=1734.98;QD=17.53;SB=-712.36 GT:AD:DP:GL:GQ 0/1:13,84:69:-197.59,-20.81,-27.48:66.63 -chr1 2028096 rs7349113 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=144;Dels=0.00;HRun=1;HaplotypeScore=338.66;MQ=50.60;MQ0=2;OQ=249.31;QD=1.73;SB=17.40 GT:AD:DP:GL:GQ 0/1:107,21:99:-60.23,-32.01,-282.27:99 -chr1 2028116 rs61775411 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=156.17;MQ=50.22;MQ0=2;OQ=1368.71;QD=10.53;SB=-489.55 GT:AD:DP:GL:GQ 0/1:47,78:82:-164.90,-24.74,-105.56:99 -chr1 2028135 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=84;Dels=0.00;HRun=0;HaplotypeScore=77.77;MQ=49.84;MQ0=2;OQ=170.97;QD=2.04;SB=-24.42 GT:AD:DP:GL:GQ 0/1:67,11:63:-39.37,-18.98,-181.92:99 -chr1 2028136 rs12080420 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=76.98;MQ=49.85;MQ0=2;OQ=157.43;QD=1.94;SB=-74.46 GT:AD:DP:GL:GQ 0/1:62,16:61:-37.41,-18.38,-198.10:99 -chr1 2028154 rs3753241 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=33.73;MQ=52.95;MQ0=1;OQ=379.95;QD=7.31;SB=-7.96 GT:AD:DP:GL:GQ 0/1:34,16:44:-54.55,-13.27,-93.77:99 -chr1 2028522 rs3128334 G A 30.30 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=59.44;MQ0=0;OQ=1539.70;QD=37.55;SB=-534.21 GT:AD:DP:GL:GQ 1/1:0,39:39:-157.57,-11.75,-0.01:99 -chr1 2028753 rs908744 G A 89.13 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=3.73;MQ=58.80;MQ0=0;OQ=1922.45;QD=33.15;SB=-549.87 GT:AD:DP:GL:GQ 1/1:0,58:52:-195.86,-15.68,-0.03:99 -chr1 2029096 rs1040231 G T 78.45 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=3.23;MQ=58.48;MQ0=0;OQ=1527.94;QD=33.22;SB=-620.05 GT:AD:DP:GL:GQ 1/1:1,45:45:-156.40,-13.56,-0.02:99 -chr1 2029381 rs16824792 G T 92.11 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=59.28;MQ0=0;OQ=1106.74;QD=34.59;SB=-441.64 GT:AD:DP:GL:GQ 1/1:0,32:31:-114.27,-9.34,-0.01:93.28 -chr1 2029579 rs1878752 G A 107.74 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=58.58;MQ0=0;OQ=1364.65;QD=36.88;SB=-510.18 GT:AD:DP:GL:GQ 1/1:0,37:36:-140.06,-10.85,-0.01:99 -chr1 2029956 rs6666117 T C 57.04 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=967.27;QD=27.64;SB=-467.25 GT:AD:DP:GL:GQ 1/1:0,35:31:-100.34,-9.35,-0.03:93.22 -chr1 2030248 rs6683011 G A 365.12 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.46;MQ0=0;OQ=938.15;QD=36.08;SB=-369.99 GT:AD:DP:GL:GQ 1/1:0,26:24:-97.41,-7.23,-0.01:72.24 -chr1 2030623 rs4648805 G A 629.77 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.87;MQ0=0;OQ=1690.17;QD=38.41;SB=-769.01 GT:AD:DP:GL:GQ 1/1:0,44:44:-172.62,-13.26,-0.02:99 -chr1 2030637 rs4648806 C T 94.85 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=56.04;MQ0=0;OQ=1691.52;QD=35.24;SB=-723.01 GT:AD:DP:GL:GQ 1/1:0,48:44:-172.75,-13.26,-0.02:99 -chr1 2030645 rs6674878 A G 54.62 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=55.66;MQ0=0;OQ=1170.82;QD=26.61;SB=-567.76 GT:AD:DP:GL:GQ 1/1:0,44:39:-120.72,-11.78,-0.06:99 -chr1 2030758 rs4648807 T C 223.06 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.74;MQ=59.17;MQ0=0;OQ=1628.83;QD=29.09;SB=-733.30 GT:AD:DP:GL:GQ 1/1:0,56:52:-166.52,-15.69,-0.05:99 -chr1 2030796 rs4648808 T C 215.31 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=59.65;MQ0=0;OQ=1868.75;QD=28.75;SB=-846.52 GT:AD:DP:GL:GQ 1/1:0,65:59:-190.51,-17.80,-0.05:99 -chr1 2031015 rs10910046 C T 236.58 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=54.92;MQ0=0;OQ=619.66;QD=30.98;SB=-276.86 GT:AD:DP:GL:GQ 1/1:0,20:17:-65.56,-5.12,-0.01:51.16 -chr1 2031321 rs12059660 C T 236.90 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.27;MQ0=0;OQ=1048.92;QD=38.85;SB=-437.08 GT:AD:DP:GL:GQ 1/1:0,27:27:-108.48,-8.13,-0.01:81.26 -chr1 2032403 rs11584491 A G 58.20 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=59.38;MQ0=0;OQ=893.06;QD=29.77;SB=-424.80 GT:AD:DP:GL:GQ 1/1:0,30:30:-92.92,-9.05,-0.03:90.18 -chr1 2032854 rs3128336 C G 73.49 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=1.85;MQ=59.29;MQ0=0;OQ=1394.69;QD=35.76;SB=-622.82 GT:AD:DP:GL:GQ 1/1:0,39:35:-143.08,-10.56,-0.03:99 -chr1 2033844 rs3107141 C T 92.22 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=4.37;MQ=59.25;MQ0=0;OQ=2275.40;QD=36.70;SB=-1025.90 GT:AD:DP:GL:GQ 1/1:0,62:59:-231.15,-17.78,-0.02:99 -chr1 2033897 rs925905 T C 149.67 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.07;MQ0=0;OQ=2152.92;QD=34.17;SB=-821.32 GT:AD:DP:GL:GQ 1/1:0,63:61:-218.90,-18.38,-0.02:99 -chr1 2033914 rs925906 A C 279.99 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.02;HRun=0;HaplotypeScore=0.48;MQ=59.34;MQ0=0;OQ=1986.91;QD=33.12;SB=-865.63 GT:AD:DP:GL:GQ 1/1:0,59:59:-202.29,-17.47,-0.02:99 -chr1 2034402 rs3107142 T C 2.70 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=59.38;MQ0=0;OQ=862.83;QD=28.76;SB=-292.45 GT:AD:DP:GL:GQ 1/1:0,30:25:-89.88,-7.54,-0.02:75.20 -chr1 2035025 rs1467217 G A 101.18 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.80;MQ=58.81;MQ0=0;OQ=1215.26;QD=31.16;SB=-472.57 GT:AD:DP:GL:GQ 1/1:2,37:32:-125.13,-9.65,-0.02:96.30 -chr1 2035232 rs3107143 G C 1383.32 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=3;HaplotypeScore=1.46;MQ=53.42;MQ0=0;QD=40.69;SB=-202.29 GT:AD:DP:GL:GQ 1/1:0,34:32:-141.93,-9.65,-0.01:96.32 -chr1 2035236 rs61775448 A G 957.24 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.20;MQ=52.98;MQ0=0;QD=29.91;SB=-159.74 GT:AD:DP:GL:GQ 1/1:0,32:29:-99.32,-8.74,-0.01:87.24 -chr1 2035240 rs3107144 C A 1108.98 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=53.21;MQ0=0;QD=33.61;SB=-288.09 GT:AD:DP:GL:GQ 1/1:0,33:31:-114.49,-9.34,-0.01:93.28 -chr1 2035742 rs3128337 A G 495.13 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.14;MQ0=0;OQ=2084.14;QD=30.20;SB=-613.59 GT:AD:DP:GL:GQ 1/1:0,69:67:-212.07,-20.22,-0.07:99 -chr1 2036646 rs3128338 G A 633.58 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=2283.85;QD=36.84;SB=-1084.46 GT:AD:DP:GL:GQ 1/1:0,61:60:-232.00,-18.09,-0.03:99 -chr1 2036798 rs3128339 G T 418.21 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.44;MQ0=0;OQ=1615.06;QD=33.65;SB=-604.54 GT:AD:DP:GL:GQ 1/1:0,48:46:-165.11,-13.86,-0.02:99 -chr1 2037356 rs3128340 C G 20.94 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=1.21;MQ=59.34;MQ0=0;OQ=2469.41;QD=39.20;SB=-820.16 GT:AD:DP:GL:GQ 1/1:0,63:62:-250.56,-18.70,-0.04:99 -chr1 2037407 rs3107145 G A 220.34 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.18;MQ=59.05;MQ0=0;OQ=2392.58;QD=37.38;SB=-1173.71 GT:AD:DP:GL:GQ 1/1:0,64:62:-242.87,-18.68,-0.02:99 -chr1 2037444 rs3107146 T C 445.88 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.92;MQ0=0;OQ=1708.25;QD=30.50;SB=-576.98 GT:AD:DP:GL:GQ 1/1:0,56:53:-174.45,-15.98,-0.04:99 -chr1 2038589 rs3107147 G A 179.13 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=59.78;MQ0=0;OQ=3375.92;QD=40.19;SB=-1379.05 GT:AD:DP:GL:GQ 1/1:0,83:83:-336.59,-25.00,-0.02:99 -chr1 2039293 . A T 534.23 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=99;Dels=0.00;HRun=3;HaplotypeScore=26.93;MQ=46.16;MQ0=1;QD=5.40;SB=50.36 GT:AD:DP:GL:GQ 0/1:64,35:82:-81.41,-24.70,-228.25:99 -chr1 2039297 . C T 849.12 Indel AC=1;AF=0.50;AN=2;DP=106;Dels=0.00;HRun=16;HaplotypeScore=37.86;MQ=45.71;MQ0=2;QD=8.01;SB=-44.28 GT:AD:DP:GL:GQ 0/1:72,34:90:-115.31,-27.11,-215.41:99 -chr1 2039368 rs3128290 G T 199.82 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=57.68;MQ0=0;OQ=1893.89;QD=32.65;SB=-943.62 GT:AD:DP:GL:GQ 1/1:0,58:54:-193.00,-16.27,-0.02:99 -chr1 2039459 rs3107148 T C 580.43 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.55;MQ0=0;OQ=1837.96;QD=36.04;SB=-792.00 GT:AD:DP:GL:GQ 1/1:0,51:51:-187.40,-15.36,-0.01:99 -chr1 2040055 rs3107149 A T 0.64 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=7.05;MQ=47.19;MQ0=2;OQ=1180.60;QD=26.83;SB=-338.84 GT:AD:DP:GL:GQ 1/1:1,43:33:-121.66,-9.94,-0.01:99 -chr1 2040785 rs3107150 T A 621.62 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.05;MQ0=0;OQ=2606.94;QD=34.76;SB=-964.53 GT:AD:DP:GL:GQ 1/1:0,75:72:-264.30,-21.69,-0.03:99 -chr1 2041373 rs3107151 T G 405.29 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.29;MQ0=0;OQ=1384.90;QD=30.11;SB=-485.99 GT:AD:DP:GL:GQ 1/1:0,46:41:-142.10,-12.35,-0.02:99 -chr1 2042357 rs3107152 T C 727.24 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=2187.52;QD=34.72;SB=-1010.74 GT:AD:DP:GL:GQ 1/1:0,63:62:-222.36,-18.68,-0.02:99 -chr1 2042782 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=1;HaplotypeScore=3.57;MQ=44.83;MQ0=0;OQ=64.06;QD=1.26;SB=2.03 GT:AD:DP:GL:GQ 0/1:44,7:48:-24.15,-14.46,-148.69:96.90 -chr1 2042814 . C G 7.67 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=3.26;MQ=39.19;MQ0=0;OQ=415.49;QD=7.69;SB=-85.80 GT:AD:DP:GL:GQ 0/1:38,16:51:-60.21,-15.38,-162.70:99 -chr1 2042818 . A G 548.88 SnpCluster AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=2;HaplotypeScore=3.40;MQ=38.13;MQ0=0;QD=9.15;SB=-238.62 GT:AD:DP:GL:GQ 0/1:35,25:55:-74.74,-16.57,-136.02:99 -chr1 2042827 rs56946456 C T 974.86 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=37.16;MQ0=0;QD=15.23;SB=-13.45 GT:AD:DP:GL:GQ 0/1:33,30:59:-118.54,-17.77,-108.89:99 -chr1 2042828 rs59510407 A G 718.63 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=2.75;MQ=36.52;MQ0=0;QD=11.98;SB=-10.84 GT:AD:DP:GL:GQ 0/1:33,26:56:-92.01,-16.87,-122.40:99 -chr1 2042846 rs58866862 A G 74.49 DPFilter;Indel AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=35.77;MQ0=0;QD=1.16;SB=32.14 GT:AD:DP:GL:GQ 0/1:43,21:44:-23.99,-13.25,-151.62:99 -chr1 2042857 rs61526019 C T 19.11 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=37.11;MQ0=1;QD=0.30;SB=35.13 GT:AD:DP:GL:GQ 0/1:49,15:46:-19.05,-13.86,-151.53:51.90 -chr1 2042876 . G T 13.23 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=1;HaplotypeScore=9.69;MQ=38.17;MQ0=2;QD=0.18;SB=41.11 GT:AD:DP:GL:GQ 0/1:58,9:53:-20.55,-15.96,-167.03:45.86 -chr1 2042878 . T C 0.10 PASS AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=0;HaplotypeScore=11.69;MQ=38.38;MQ0=2;OQ=1187.23;QD=16.96;SB=-479.73 GT:AD:DP:GL:GQ 0/1:15,55:50:-137.09,-15.08,-24.25:91.67 -chr1 2042931 . A G 53.02 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=0;HaplotypeScore=15.54;MQ=37.98;MQ0=2;QD=0.69;SB=20.09 GT:AD:DP:GL:GQ 0/1:67,10:63:-27.57,-18.98,-213.37:85.85 -chr1 2042932 . C T 144.76 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=0;HaplotypeScore=10.55;MQ=37.98;MQ0=2;QD=1.88;SB=20.04 GT:AD:DP:GL:GQ 0/1:64,13:62:-36.47,-18.71,-162.72:99 -chr1 2042933 rs61775451 A G 2056.36 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=7.24;MQ=37.41;MQ0=2;QD=27.79;SB=-304.45 GT:AD:DP:GL:GQ 1/1:0,74:61:-209.25,-18.38,-0.03:99 -chr1 2042939 rs61775452 A G 1556.23 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=44.30;MQ=35.88;MQ0=3;QD=19.21;SB=-241.65 GT:AD:DP:GL:GQ 0/1:26,55:67:-179.09,-20.18,-61.01:99 -chr1 2042967 . G A 494.62 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=0;HaplotypeScore=42.03;MQ=31.07;MQ0=2;QD=5.75;SB=-10.00 GT:AD:DP:GL:GQ 0/1:65,21:57:-69.92,-17.17,-132.17:99 -chr1 2042968 . T C 324.84 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=41.51;MQ=30.57;MQ0=2;QD=3.82;SB=-7.00 GT:AD:DP:GL:GQ 0/1:68,17:56:-52.65,-16.88,-157.62:99 -chr1 2042975 . G A 918.15 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=0;HaplotypeScore=43.08;MQ=30.97;MQ0=1;QD=11.92;SB=-7.00 GT:AD:DP:GL:GQ 0/1:43,34:50:-110.16,-15.06,-77.95:99 -chr1 2042993 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=37.83;MQ=26.92;MQ0=1;OQ=262.34;QD=4.60;SB=-10.00 GT:AD:DP:GL:GQ 0/1:38,19:39:-41.26,-11.74,-103.99:99 -chr1 2043003 . A G 593.68 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=39;Dels=0.03;HRun=0;HaplotypeScore=30.47;MQ=26.18;MQ0=1;QD=15.22;SB=-10.00 GT:AD:DP:GL:GQ 0/1:16,22:23:-69.27,-6.63,-8.02:13.91 -chr1 2043004 . C T 763.57 Indel;SnpCluster AC=2;AF=1.00;AN=2;DP=36;Dels=0.06;HRun=0;HaplotypeScore=22.21;MQ=26.52;MQ0=1;QD=21.21;SB=-10.00 GT:AD:DP:GL:GQ 1/1:3,31:22:-82.94,-6.33,-3.00:33.26 -chr1 2043011 . A G 85.38 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=1;HaplotypeScore=13.94;MQ=26.97;MQ0=0;QD=3.28;SB=-10.00 GT:AD:DP:GL:GQ 0/1:19,7:20:-17.84,-6.02,-61.94:99 -chr1 2043025 . C T 0.23 PASS AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=7.88;MQ=23.26;MQ0=0;OQ=89.13;QD=11.14;SB=-10.00 GT:AD:DP:GL:GQ 1/1:3,5:3:-12.40,-0.90,-0.00:9.03 -chr1 2043058 . C T 0.16 PASS AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=7.97;MQ=18.94;MQ0=5;OQ=124.33;QD=12.43;SB=-10.00 GT:AD:DP:GL:GQ 1/1:4,6:4:-15.97,-1.21,-0.00:12.04 -chr1 2043061 . C T 0.16 PASS AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;HRun=0;HaplotypeScore=9.08;MQ=17.30;MQ0=6;OQ=117.32;QD=9.78;SB=-10.00 GT:AD:DP:GL:GQ 1/1:4,8:4:-15.27,-1.21,-0.00:12.04 -chr1 2043097 . C T 1.40 PASS AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=4.78;MQ=17.14;MQ0=7;OQ=117.84;QD=7.86;SB=-10.00 GT:AD:DP:GL:GQ 0/1:11,4:5:-16.57,-1.51,-3.10:15.90 -chr1 2043134 rs62641630 A G 85.81 Indel AC=1;AF=0.50;AN=2;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=34.82;MQ=24.20;MQ0=2;QD=5.36;SB=-10.00 GT:AD:DP:GL:GQ 0/1:8,7:9:-14.57,-2.71,-19.58:99 -chr1 2043141 . T G 143.26 Indel AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=21.33;MQ0=2;QD=11.94;SB=-10.00 GT:AD:DP:GL:GQ 1/1:3,9:5:-17.89,-1.51,-0.00:15.05 -chr1 2043178 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=18.82;MQ=19.76;MQ0=6;OQ=129.40;QD=2.70;SB=-10.00 GT:AD:DP:GL:GQ 0/1:34,14:15:-20.75,-4.53,-30.16:99 -chr1 2043181 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=18.51;MQ=19.26;MQ0=7;OQ=70.77;QD=1.31;SB=-10.00 GT:AD:DP:GL:GQ 0/1:41,12:15:-14.88,-4.52,-41.18:99 -chr1 2043199 . T C 326.46 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=101;Dels=0.00;HRun=0;HaplotypeScore=71.39;MQ=18.51;MQ0=9;QD=3.23;SB=5.04 GT:AD:DP:GL:GQ 0/1:73,28:19:-41.66,-5.73,-27.12:99 -chr1 2043200 . G T 127.31 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=1;HaplotypeScore=109.06;MQ=18.45;MQ0=9;QD=1.24;SB=5.04 GT:AD:DP:GL:GQ 0/1:88,15:19:-21.74,-5.72,-47.36:99 -chr1 2043203 . A G 195.43 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=112;Dels=0.00;HRun=1;HaplotypeScore=58.32;MQ=18.15;MQ0=10;QD=1.74;SB=5.04 GT:AD:DP:GL:GQ 0/1:95,17:20:-28.85,-6.02,-47.43:99 -chr1 2043227 rs61775455 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=139;Dels=0.00;HRun=1;HaplotypeScore=26.18;MQ=17.76;MQ0=15;OQ=512.67;QD=3.69;SB=-282.20 GT:AD:DP:GL:GQ 0/1:22,117:18:-59.98,-5.43,-16.39:99 -chr1 2043250 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=0;HaplotypeScore=40.25;MQ=18.52;MQ0=5;OQ=52.10;QD=0.80;SB=5.03 GT:AD:DP:GL:GQ 0/1:47,18:9:-11.21,-2.71,-18.54:84.93 -chr1 2043253 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=69.74;MQ=17.96;MQ0=6;OQ=126.28;QD=2.18;SB=-31.52 GT:AD:DP:GL:GQ 0/1:37,20:7:-18.02,-2.11,-6.74:46.31 -chr1 2043286 . C T 29.35 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=15.82;MQ=16.30;MQ0=5;QD=1.47;SB=-39.54 GT:AD:DP:GL:GQ 0/1:10,10:4:-7.42,-1.21,-6.19:49.87 -chr1 2043289 . C T 29.39 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=12.80;MQ=15.14;MQ0=5;QD=1.73;SB=-36.53 GT:AD:DP:GL:GQ 0/1:8,8:3:-7.13,-0.91,-2.70:17.92 -chr1 2043333 . T G 28.03 LowQual AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=18.60;MQ0=2;QD=4.00;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,7:2:-6.21,-0.60,-0.00:6.01 -chr1 2043370 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=30.96;MQ=17.94;MQ0=3;OQ=266.78;QD=3.51;SB=-158.18 GT:AD:DP:GL:GQ 0/1:20,55:9:-32.59,-2.71,-3.10:3.86 -chr1 2043387 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=0;HaplotypeScore=305.93;MQ=17.79;MQ0=4;OQ=61.76;QD=0.60;SB=5.03 GT:AD:DP:GL:GQ 0/1:70,33:9:-12.17,-2.71,-18.55:94.59 -chr1 2043399 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=1;HaplotypeScore=80.07;MQ=17.30;MQ0=8;OQ=50.40;QD=0.46;SB=-41.37 GT:AD:DP:GL:GQ 0/1:77,30:6:-10.13,-1.81,-8.76:69.51 -chr1 2043410 . G A 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;HRun=0;HaplotypeScore=62.95;MQ=16.84;MQ0=8;OQ=120.99;QD=1.22;SB=-42.66 GT:AD:DP:GL:GQ 1/1:14,85:4:-15.63,-1.21,-0.00:12.04 -chr1 2043421 . C T 40.51 LowQual AC=1;AF=0.50;AN=2;DP=97;Dels=0.01;HRun=0;HaplotypeScore=78.29;MQ=16.56;MQ0=9;QD=0.42;SB=-7.00 GT:AD:DP:GL:GQ 0/1:75,21:3:-8.24,-0.90,-2.77:18.65 -chr1 2043428 . G A 73.75 Indel AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;HRun=0;HaplotypeScore=65.46;MQ=16.72;MQ0=6;QD=0.88;SB=-10.00 GT:AD:DP:GL:GQ 1/1:16,68:3:-10.87,-0.91,-0.00:9.02 -chr1 2043438 . G A 70.80 Indel AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=64.65;MQ=17.33;MQ0=2;QD=1.00;SB=-10.00 GT:AD:DP:GL:GQ 0/1:44,27:4:-11.57,-1.20,-3.47:22.64 -chr1 2043560 . G C 29.95 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=54.01;MQ=17.20;MQ0=4;QD=0.86;SB=-10.00 GT:AD:DP:GL:GQ 0/1:29,6:4:-7.49,-1.21,-7.00:57.86 -chr1 2043565 . C T 49.25 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=47.09;MQ=17.14;MQ0=4;QD=1.37;SB=-10.00 GT:AD:DP:GL:GQ 1/1:19,17:2:-8.33,-0.60,-0.00:6.02 -chr1 2043572 . G A 46.02 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=33.86;MQ=16.62;MQ0=6;QD=1.18;SB=-10.00 GT:AD:DP:GL:GQ 1/1:22,17:2:-8.01,-0.60,-0.00:6.02 -chr1 2043583 . C T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=32.32;MQ=16.61;MQ0=6;OQ=173.76;QD=4.57;SB=-10.00 GT:AD:DP:GL:GQ 1/1:16,22:5:-20.94,-1.51,-0.00:15.05 -chr1 2043590 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=33;Dels=0.00;HRun=0;HaplotypeScore=28.82;MQ=16.31;MQ0=5;OQ=78.84;QD=2.39;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,18:4:-12.37,-1.20,-2.87:16.64 -chr1 2043797 . C T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=30.70;MQ=15.39;MQ0=12;OQ=90.55;QD=2.66;SB=-10.00 GT:AD:DP:GL:GQ 1/1:10,21:4:-15.80,-4.21,-3.24:9.74 -chr1 2043818 . T C 79 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=39.74;MQ=12.98;MQ0=29;QD=1.39;SB=-10.00 GT:AD:DP:GL:GQ 1/1:42,15:3:-11.39,-0.90,-0.00:9.03 -chr1 2043819 . G T 74.28 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;HRun=1;HaplotypeScore=66.63;MQ=12.86;MQ0=30;QD=1.28;SB=-10.00 GT:AD:DP:GL:GQ 1/1:43,15:3:-10.92,-0.90,-0.00:9.03 -chr1 2043822 . G A 85.78 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=66.31;MQ=12.73;MQ0=32;QD=1.41;SB=-10.00 GT:AD:DP:GL:GQ 1/1:35,26:3:-12.07,-0.90,-0.00:9.03 -chr1 2043840 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=53.86;MQ=13.17;MQ0=31;OQ=75.78;QD=1.28;SB=-3.99 GT:AD:DP:GL:GQ 0/1:33,26:5:-12.37,-1.51,-6.39:48.86 -chr1 2043865 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=1;HaplotypeScore=29.69;MQ=17.30;MQ0=6;OQ=56.87;QD=2.19;SB=-30.92 GT:AD:DP:GL:GQ 0/1:19,7:4:-10.17,-1.21,-3.00:17.97 -chr1 2043873 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=65.88;MQ=20.81;MQ0=0;OQ=78.81;QD=5.63;SB=-7.00 GT:AD:DP:GL:GQ 0/1:7,7:4:-12.37,-1.21,-3.20:19.92 -chr1 2044254 . A G 32.28 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=14.52;MQ0=7;QD=1.90;SB=-10.00 GT:AD:DP:GL:GQ 1/1:8,9:2:-6.64,-0.60,-0.00:6.02 -chr1 2044261 . G T 34.69 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=14.97;MQ0=6;QD=2.17;SB=-10.00 GT:AD:DP:GL:GQ 1/1:8,8:2:-6.88,-0.60,-0.00:6.02 -chr1 2045053 . A G 0.05 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;HRun=1;HaplotypeScore=13.98;MQ=19.49;MQ0=2;OQ=141.20;QD=10.86;SB=-10.00 GT:AD:DP:GL:GQ 1/1:5,8:5:-17.68,-1.51,-0.00:15.04 -chr1 2045060 . G T 46.93 LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=16.54;MQ=19.21;MQ0=2;QD=3.35;SB=-10.00 GT:AD:DP:GL:GQ 0/1:9,5:5:-9.49,-1.51,-6.61:50.97 -chr1 2045064 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=17.54;MQ=18.55;MQ0=3;OQ=51.75;QD=3.45;SB=-10.00 GT:AD:DP:GL:GQ 0/1:6,9:5:-9.97,-1.51,-6.44:49.32 -chr1 2045454 . C T 0.01 FDRtranche2.00to10.00 AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;HRun=0;HaplotypeScore=19.88;MQ=20.43;MQ0=9;OQ=198.28;QD=7.34;SB=-10.00 GT:AD:DP:GL:GQ 1/1:7,20:6:-23.40,-1.81,-0.00:18.06 -chr1 2045469 . C T 0.06 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=12.29;MQ=20.17;MQ0=11;OQ=284.41;QD=8.89;SB=-48.56 GT:AD:DP:GL:GQ 1/1:9,23:8:-32.02,-2.41,-0.00:24.08 -chr1 2045505 . C T 28.68 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=18.97;MQ=24.13;MQ0=5;QD=0.54;SB=11.04 GT:AD:DP:GL:GQ 0/1:44,9:20:-12.18,-6.03,-54.06:61.51 -chr1 2045518 . C G 738.24 SnpCluster AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=1;HaplotypeScore=15.01;MQ=25.23;MQ0=2;QD=13.67;SB=-291.20 GT:AD:DP:GL:GQ 0/1:10,44:25:-84.64,-7.53,-25.69:99 -chr1 2045519 . G A 107.30 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=14.97;MQ=25.69;MQ0=2;QD=1.95;SB=11.06 GT:AD:DP:GL:GQ 0/1:46,9:22:-20.64,-6.63,-60.44:99 -chr1 2045523 rs61775456 C T 1156.65 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=31.40;MQ=26.13;MQ0=1;QD=21.03;SB=-340.35 GT:AD:DP:GL:GQ 1/1:5,50:30:-119.26,-9.04,-0.01:90.29 -chr1 2045530 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=0;HaplotypeScore=38.81;MQ=25.91;MQ0=2;OQ=314.66;QD=4.56;SB=14.05 GT:AD:DP:GL:GQ 0/1:30,39:21:-41.08,-6.33,-36.84:99 -chr1 2045541 rs61775457 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=85.67;MQ=25.28;MQ0=4;OQ=1042.79;QD=14.28;SB=-111.96 GT:AD:DP:GL:GQ 0/1:30,43:36:-118.41,-10.85,-17.33:64.79 -chr1 2045548 rs61775458 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=80.30;MQ=24.94;MQ0=7;OQ=952.67;QD=11.48;SB=11.05 GT:AD:DP:GL:GQ 0/1:35,48:39:-110.31,-11.76,-31.30:99 -chr1 2045552 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=100;Dels=0.00;HRun=3;HaplotypeScore=82.09;MQ=25.54;MQ0=10;OQ=109.35;QD=1.09;SB=14.08 GT:AD:DP:GL:GQ 0/1:83,17:53:-30.20,-15.98,-173.43:99 -chr1 2045562 rs61775459 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=44.83;MQ=25.87;MQ0=15;OQ=1085.84;QD=10.54;SB=-112.96 GT:AD:DP:GL:GQ 0/1:18,82:44:-125.15,-13.28,-24.49:99 -chr1 2045577 rs61776561 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=71.26;MQ=25.93;MQ0=17;OQ=471.38;QD=4.36;SB=-66.29 GT:AD:DP:GL:GQ 0/1:83,25:48:-64.89,-14.47,-100.62:99 -chr1 2045590 rs61776562 C G 1122.80 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=71.62;MQ=27.29;MQ0=12;QD=12.62;SB=-466.47 GT:AD:DP:GL:GQ 0/1:38,51:51:-130.94,-15.38,-82.60:99 -chr1 2045591 . G A 91.87 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=0;HaplotypeScore=67.28;MQ=27.29;MQ0=12;QD=1.03;SB=20.08 GT:AD:DP:GL:GQ 0/1:68,21:39:-24.23,-11.76,-108.70:99 -chr1 2045595 rs61776563 C T 1533.88 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=45.58;MQ=27.30;MQ0=11;QD=17.43;SB=-260.54 GT:AD:DP:GL:GQ 1/1:9,79:49:-170.95,-14.77,-14.14:6.27 -chr1 2045606 . A G 34.51 DPFilter;HARD_TO_VALIDATE;Indel;LowQual AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=3;HaplotypeScore=43.22;MQ=27.00;MQ0=12;QD=0.42;SB=23.11 GT:AD:DP:GL:GQ 0/1:76,7:41:-19.11,-12.37,-129.33:67.35 -chr1 2045616 . T C 78.88 DPFilter;HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=0;HaplotypeScore=250.84;MQ=27.16;MQ0=10;QD=1.21;SB=21.87 GT:AD:DP:GL:GQ 0/1:53,10:39:-22.94,-11.77,-110.81:99 -chr1 2045620 rs61776564 G A 378.54 DPFilter;HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=91.32;MQ=25.99;MQ0=10;QD=7.14;SB=2.03 GT:AD:DP:GL:GQ 0/1:31,22:26:-48.98,-7.84,-44.75:99 -chr1 2045631 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=20.68;MQ=23.69;MQ0=10;OQ=345.67;QD=8.43;SB=-190.29 GT:AD:DP:GL:GQ 0/1:16,25:18:-43.28,-5.43,-21.54:99 -chr1 2045638 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=35.28;MQ=23.82;MQ0=10;OQ=167.44;QD=4.29;SB=-58.06 GT:AD:DP:GL:GQ 0/1:24,15:14:-24.25,-4.23,-24.00:99 -chr1 2045652 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=49.08;MQ=21.77;MQ0=9;OQ=173.85;QD=5.43;SB=-84.31 GT:AD:DP:GL:GQ 0/1:13,19:7:-22.76,-2.11,-3.10:9.89 -chr1 2045656 . G A 40.26 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=0;HaplotypeScore=55.88;MQ=22.32;MQ0=8;QD=1.34;SB=-10.00 GT:AD:DP:GL:GQ 0/1:16,14:3:-8.21,-0.90,-3.07:21.65 -chr1 2045667 . C T 56.78 SnpCluster AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=0;HaplotypeScore=27.04;MQ=25.03;MQ0=2;QD=2.18;SB=-3.99 GT:AD:DP:GL:GQ 0/1:9,17:7:-11.07,-2.11,-11.53:89.62 -chr1 2045670 . C T 22.25 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=24.25;MQ=25.19;MQ0=1;QD=0.93;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,19:3:-6.41,-0.91,-3.37:24.66 -chr1 2045674 . G A 38.46 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=35.09;MQ=29.74;MQ0=1;QD=1.54;SB=-10.00 GT:AD:DP:GL:GQ 0/1:10,15:4:-8.34,-1.21,-6.59:53.87 -chr1 2045688 rs61776565 C T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=37.51;MQ=32.86;MQ0=0;OQ=472.91;QD=12.78;SB=-219.35 GT:AD:DP:GL:GQ 1/1:8,29:13:-50.88,-3.92,-0.00:39.13 -chr1 2045716 rs11589827 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=37.92;MQ=32.79;MQ0=0;OQ=1051.52;QD=19.47;SB=-363.54 GT:AD:DP:GL:GQ 0/1:22,32:36:-119.28,-10.85,-21.22:99 -chr1 2045975 rs56260599 A G 8.24 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=2.17;MQ=48.30;MQ0=0;OQ=1370.04;QD=29.78;SB=-550.86 GT:AD:DP:GL:GQ 1/1:0,45:39:-140.61,-11.75,-0.02:99 -chr1 2047610 rs3107154 A C 149.56 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=57.43;MQ0=0;OQ=1416.93;QD=32.20;SB=-509.01 GT:AD:DP:GL:GQ 1/1:0,44:41:-145.30,-12.35,-0.02:99 -chr1 2047883 rs3128291 A G 544.70 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=1311.92;QD=28.52;SB=-584.18 GT:AD:DP:GL:GQ 1/1:0,46:44:-134.83,-13.28,-0.06:99 -chr1 2050384 rs3107155 T C 5.04 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=1.93;MQ=59.45;MQ0=0;OQ=1167.72;QD=27.80;SB=-528.96 GT:AD:DP:GL:GQ 1/1:0,42:38:-120.40,-11.47,-0.04:99 -chr1 2050490 rs3107156 T C 249.61 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=60.00;MQ0=0;OQ=2021.38;QD=30.17;SB=-957.45 GT:AD:DP:GL:GQ 1/1:0,67:63:-205.77,-19.00,-0.05:99 -chr1 2050592 rs10797427 C T 209.13 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=2020.11;QD=36.73;SB=-999.03 GT:AD:DP:GL:GQ 1/1:0,54:53:-205.62,-15.97,-0.03:99 -chr1 2051236 rs6603815 T C 200 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=58.85;MQ0=0;OQ=2560.21;QD=35.07;SB=-874.04 GT:AD:DP:GL:GQ 1/1:0,73:73:-259.63,-21.99,-0.03:99 -chr1 2051829 rs3107157 T C 631.33 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.47;MQ0=0;OQ=1661.55;QD=30.21;SB=-807.71 GT:AD:DP:GL:GQ 1/1:0,55:52:-169.78,-15.68,-0.04:99 -chr1 2053024 rs2222217 G A 330.52 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=57.94;MQ0=0;OQ=1814.00;QD=39.43;SB=-879.02 GT:AD:DP:GL:GQ 1/1:0,46:46:-185.00,-13.86,-0.01:99 -chr1 2055199 rs3128293 A G 0.17 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=4;HaplotypeScore=2.50;MQ=57.87;MQ0=0;OQ=714.48;QD=32.48;SB=-354.81 GT:AD:DP:GL:GQ 1/1:0,22:21:-75.04,-6.33,-0.01:63.18 -chr1 2055203 rs3128294 G C 31.92 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=2.50;MQ=59.11;MQ0=0;OQ=958.73;QD=36.87;SB=-480.55 GT:AD:DP:GL:GQ 1/1:0,26:24:-99.47,-7.24,-0.01:72.23 -chr1 2056850 rs55958603 C T 1.19 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=3;HaplotypeScore=3.45;MQ=57.77;MQ0=0;OQ=633.04;QD=15.07;SB=-129.09 GT:AD:DP:GL:GQ 0/1:21,21:38:-78.03,-11.45,-68.95:99 -chr1 2058340 rs3128295 C T 135.04 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=57.98;MQ0=0;OQ=1478.85;QD=33.61;SB=-754.65 GT:AD:DP:GL:GQ 1/1:0,43:39:-151.49,-11.75,-0.02:99 -chr1 2058766 rs3128296 G T 62.70 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=59.52;MQ0=0;OQ=1387.47;QD=35.58;SB=-366.86 GT:AD:DP:GL:GQ 1/1:0,39:38:-142.34,-11.45,-0.01:99 -chr1 2060181 rs411021 T C 39.97 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=58.62;MQ0=0;OQ=1893.37;QD=29.58;SB=-877.01 GT:AD:DP:GL:GQ 1/1:0,64:60:-192.98,-18.10,-0.06:99 -chr1 2061200 rs424079 C A 282.41 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=59.70;MQ0=0;OQ=2061.38;QD=33.25;SB=-816.15 GT:AD:DP:GL:GQ 1/1:2,60:59:-209.75,-17.78,-0.03:99 -chr1 2061416 rs436045 A G 341.67 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=1852.88;QD=31.95;SB=-463.52 GT:AD:DP:GL:GQ 1/1:0,58:55:-188.90,-16.57,-0.02:99 -chr1 2061625 rs364677 A G 92.05 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=2.94;MQ=57.88;MQ0=0;OQ=1754.29;QD=33.10;SB=-829.10 GT:AD:DP:GL:GQ 1/1:0,53:50:-179.03,-15.06,-0.02:99 -chr1 2062860 rs2945573 A G 10.32 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=3.09;MQ=53.50;MQ0=0;OQ=1269.78;QD=34.32;SB=-473.51 GT:AD:DP:GL:GQ 1/1:0,37:36:-130.57,-10.84,-0.01:99 -chr1 2063413 rs643076 A G 32.55 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=23.27;MQ0=4;QD=3.26;SB=-41.68 GT:AD:DP:GL:GQ 1/1:0,9:2:-6.66,-0.60,-0.00:6.02 -chr1 2063477 . C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=79;Dels=0.00;HRun=1;HaplotypeScore=9.72;MQ=34.90;MQ0=16;OQ=82.45;QD=1.04;SB=5.04 GT:AD:DP:GL:GQ 0/1:72,7:47:-25.69,-14.16,-141.31:99 -chr1 2063706 rs56038539 T C 3.16 PASS AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=41.37;MQ0=1;OQ=139.38;QD=19.91;SB=-78.92 GT:AD:DP:GL:GQ 1/1:0,7:5:-17.50,-1.51,-0.00:15.04 -chr1 2068664 . C T 1.14 PASS AC=1;AF=0.50;AN=2;DP=87;Dels=0.00;HRun=1;HaplotypeScore=4.59;MQ=58.77;MQ0=0;OQ=1604.59;QD=18.44;SB=-789.85 GT:AD:DP:GL:GQ 0/1:40,47:84:-189.05,-25.30,-139.35:99 -chr1 2076421 rs2459983 A G 9.14 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=6.88;MQ=57.31;MQ0=0;OQ=556.13;QD=9.43;SB=-262.92 GT:AD:DP:GL:GQ 0/1:36,23:54:-75.17,-16.28,-123.64:99 -chr1 2080370 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=2;HaplotypeScore=7.10;MQ=51.87;MQ0=1;OQ=83.25;QD=1.63;SB=68.25 GT:AD:DP:GL:GQ 0/1:34,17:35:-22.19,-10.58,-111.66:99 -chr1 2084392 rs12132341 G A 174.47 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=2.02;MQ=59.31;MQ0=0;OQ=863.52;QD=15.99;SB=-268.13 GT:AD:DP:GL:GQ 0/1:26,28:52:-105.30,-15.67,-88.61:99 -chr1 2089742 rs12137653 G A 181.23 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=1.72;MQ=58.90;MQ0=0;OQ=1123.18;QD=19.04;SB=-544.82 GT:AD:DP:GL:GQ 0/1:23,36:56:-132.48,-16.88,-70.24:99 -chr1 2096700 rs12135175 T C 69.07 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=484.58;QD=34.61;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,14:14:-52.05,-4.22,-0.00:42.13 -chr1 2096756 rs12135178 T C 1.47 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=63.69;QD=21.23;SB=-45.69 GT:AD:DP:GL:GQ 1/1:0,3:3:-9.86,-0.91,-0.00:9.02 -chr1 2097150 . G T 29.88 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=2;HaplotypeScore=4.60;MQ=59.01;MQ0=0;QD=1.57;SB=20.09 GT:AD:DP:GL:GQ 0/1:12,7:13:-10.19,-3.92,-36.97:62.71 -chr1 2103132 . T G 33.73 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=2;HaplotypeScore=13.23;MQ=58.26;MQ0=0;QD=0.50;SB=77.26 GT:AD:DP:GL:GQ 0/1:40,27:45:-20.22,-13.56,-132.60:66.56 -chr1 2103519 . T G 34.88 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=1;HaplotypeScore=24.16;MQ=56.69;MQ0=0;QD=0.66;SB=65.20 GT:AD:DP:GL:GQ 0/1:32,21:34:-17.01,-10.24,-99.26:67.71 -chr1 2110321 rs12145923 A C 0.48 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=12.44;MQ=52.00;MQ0=0;OQ=558.55;QD=9.01;SB=-276.83 GT:AD:DP:GL:GQ 0/1:36,25:56:-76.01,-16.87,-110.27:99 -chr1 2119788 . T C 18.51 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=3;HaplotypeScore=2.86;MQ=58.76;MQ0=0;QD=0.33;SB=56.21 GT:AD:DP:GL:GQ 0/1:41,15:42:-17.79,-12.66,-139.27:51.28 -chr1 2129255 . C G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=12.54;MQ=53.09;MQ0=0;OQ=134.48;QD=3.96;SB=-44.78 GT:AD:DP:GL:GQ 0/1:28,6:25:-24.27,-7.54,-83.09:99 -chr1 2130727 . C A 3.24 PASS AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=60.00;MQ0=0;OQ=883.89;QD=21.05;SB=-232.51 GT:AD:DP:GL:GQ 0/1:13,29:42:-104.32,-12.65,-47.37:99 -chr1 2133967 rs2503715 A G 158.02 PASS AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=60.00;MQ0=0;OQ=295.10;QD=12.30;SB=-168.37 GT:AD:DP:GL:GQ 0/1:13,11:24:-40.02,-7.23,-52.87:99 -chr1 2146787 . G T 26.55 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=20;HaplotypeScore=12.86;MQ=49.19;MQ0=1;QD=0.48;SB=62.22 GT:AD:DP:GL:GQ 0/1:43,12:38:-17.39,-11.45,-117.88:59.38 -chr1 2157661 . T G 18.80 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=2;HaplotypeScore=22.82;MQ=58.47;MQ0=0;QD=0.32;SB=110.33 GT:AD:DP:GL:GQ 0/1:45,13:50:-20.22,-15.06,-154.85:51.58 -chr1 2158219 . G A 102.84 PASS AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=58.11;MQ0=0;OQ=732.58;QD=15.59;SB=-362.51 GT:AD:DP:GL:GQ 0/1:23,24:45:-90.10,-13.56,-76.34:99 -chr1 2159397 . G A 168.87 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.44;MQ0=0;OQ=557.34;QD=13.59;SB=-169.24 GT:AD:DP:GL:GQ 0/1:23,18:39:-70.77,-11.75,-72.68:99 -chr1 2162698 rs55996607 T A 417.68 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=618.41;QD=12.13;SB=-230.72 GT:AD:DP:GL:GQ 0/1:28,23:50:-80.19,-15.06,-104.77:99 -chr1 2164572 rs263525 T C 240.22 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.18;MQ=58.19;MQ0=0;OQ=1470.94;QD=30.02;SB=-709.84 GT:AD:DP:GL:GQ 1/1:0,49:48:-150.72,-14.48,-0.04:99 -chr1 2166877 rs4648817 C T 227.81 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=42.45;MQ0=0;OQ=888.81;QD=15.06;SB=-258.26 GT:AD:DP:GL:GQ 0/1:29,28:53:-108.14,-15.97,-85.30:99 -chr1 2167087 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=78;Dels=0.03;HRun=20;HaplotypeScore=33.19;MQ=45.08;MQ0=3;OQ=60.74;QD=0.78;SB=86.28 GT:AD:DP:GL:GQ 0/1:57,18:48:-23.51,-14.16,-146.86:93.57 -chr1 2172859 rs55827021 G A 215.80 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=60.00;MQ0=0;OQ=711.82;QD=15.47;SB=-343.87 GT:AD:DP:GL:GQ 0/1:21,25:42:-87.13,-12.66,-66.29:99 -chr1 2181828 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=69;Dels=0.01;HRun=5;HaplotypeScore=57.83;MQ=51.68;MQ0=2;OQ=160.28;QD=2.32;SB=74.25 GT:AD:DP:GL:GQ 0/1:46,21:51:-34.38,-15.07,-143.28:99 -chr1 2181834 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=20;HaplotypeScore=10.75;MQ=49.92;MQ0=3;OQ=651.07;QD=8.57;SB=86.24 GT:AD:DP:GL:GQ 0/1:47,28:67:-88.59,-20.20,-142.58:99 -chr1 2190201 rs4648625 G T 81.26 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=2.89;MQ=59.03;MQ0=0;OQ=1500.00;QD=34.88;SB=-738.07 GT:AD:DP:GL:GQ 1/1:0,43:43:-153.60,-12.95,-0.02:99 -chr1 2194650 rs4648819 G A 133.33 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=0.82;MQ=60.00;MQ0=0;OQ=743.48;QD=16.52;SB=-314.80 GT:AD:DP:GL:GQ 0/1:22,23:44:-90.89,-13.26,-76.95:99 -chr1 2200056 rs55778641 A C 21.64 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=4.74;MQ=60.00;MQ0=0;OQ=608.53;QD=12.95;SB=-87.63 GT:AD:DP:GL:GQ 0/1:21,26:44:-77.39,-13.25,-77.32:99 -chr1 2201955 . C T 11.73 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=16.61;MQ=30.48;MQ0=8;QD=0.49;SB=-3.98 GT:AD:DP:GL:GQ 0/1:18,6:8:-6.84,-2.41,-19.02:44.27 -chr1 2202003 . A G 11.74 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=1;HaplotypeScore=7.13;MQ=18.21;MQ0=12;QD=0.30;SB=-3.98 GT:AD:DP:GL:GQ 0/1:31,8:9:-7.14,-2.71,-26.71:44.28 -chr1 2202019 . C A 24.05 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.76;MQ=18.13;MQ0=6;QD=1.05;SB=-6.99 GT:AD:DP:GL:GQ 0/1:15,8:6:-7.50,-1.81,-11.06:56.87 -chr1 2202047 . A G 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=1;HaplotypeScore=10.59;MQ=18.96;MQ0=8;OQ=148.17;QD=5.93;SB=-3.98 GT:AD:DP:GL:GQ 0/1:17,8:9:-20.81,-2.71,-12.59:98.81 -chr1 2202060 . C T 1.87 PASS AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=16.70;MQ0=15;OQ=178.09;QD=5.94;SB=-4.00 GT:AD:DP:GL:GQ 0/1:17,12:9:-23.81,-2.71,-8.44:57.22 -chr1 2202081 . C T 18.49 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=39;Dels=0.03;HRun=0;HaplotypeScore=43.99;MQ=16.84;MQ0=21;QD=0.47;SB=-6.99 GT:AD:DP:GL:GQ 0/1:31,7:8:-7.54,-2.41,-18.75:51.27 -chr1 2202085 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=40;Dels=0.03;HRun=0;HaplotypeScore=35.15;MQ=14.59;MQ0=24;OQ=74.01;QD=1.85;SB=-48.55 GT:AD:DP:GL:GQ 0/1:30,9:6:-12.50,-1.81,-8.79:69.79 -chr1 2202103 . C T 23.47 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=12.67;MQ=15.94;MQ0=20;QD=0.57;SB=-6.99 GT:AD:DP:GL:GQ 0/1:31,9:7:-7.74,-2.11,-15.15:56.28 -chr1 2202167 . C A 13.22 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=1;HaplotypeScore=11.12;MQ=8.91;MQ0=36;QD=0.22;SB=-10.00 GT:AD:DP:GL:GQ 0/1:51,9:4:-5.79,-1.21,-5.41:41.98 -chr1 2202296 . C A 18.94 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=1;HaplotypeScore=9.91;MQ=10.32;MQ0=37;QD=0.39;SB=-10.00 GT:AD:DP:GL:GQ 0/1:36,13:6:-6.98,-1.81,-13.53:51.72 -chr1 2202348 . A G 10.17 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=1;HaplotypeScore=23.55;MQ=13.35;MQ0=40;QD=0.15;SB=-25.65 GT:AD:DP:GL:GQ 0/1:57,8:7:-6.37,-2.11,-18.82:42.57 -chr1 2202364 . C T 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=20.33;MQ0=13;OQ=62.56;QD=1.49;SB=-32.09 GT:AD:DP:GL:GQ 0/1:34,6:7:-15.23,-5.69,-14.13:84.42 -chr1 2202391 . A G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=1;HaplotypeScore=5.05;MQ=22.23;MQ0=9;OQ=175.98;QD=4.09;SB=-54.84 GT:AD:DP:GL:GQ 0/1:26,17:18:-26.30,-5.42,-41.13:99 -chr1 2202434 . A G 21.78 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=1;HaplotypeScore=15.47;MQ=13.87;MQ0=17;QD=0.81;SB=-34.93 GT:AD:DP:GL:GQ 0/1:19,8:5:-6.97,-1.51,-11.89:54.59 -chr1 2202602 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=0;HaplotypeScore=59.56;MQ=10.62;MQ0=43;OQ=145.43;QD=2.24;SB=-6.99 GT:AD:DP:GL:GQ 0/1:30,35:7:-19.94,-2.11,-6.77:46.57 -chr1 2202632 . G T 82.62 HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=11.21;MQ0=49;QD=1.18;SB=-10.00 GT:AD:DP:GL:GQ 0/1:61,9:9:-14.26,-2.71,-18.59:99 -chr1 2202667 . A C 16.33 DPFilter;HARD_TO_VALIDATE;Indel;LowQual AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=25.34;MQ=10.07;MQ0=49;QD=0.22;SB=8.05 GT:AD:DP:GL:GQ 0/1:64,9:8:-7.32,-2.41,-22.67:49.06 -chr1 2202682 . G A 36.23 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=1;HaplotypeScore=78.01;MQ=9.70;MQ0=44;QD=0.48;SB=-3.98 GT:AD:DP:GL:GQ 0/1:63,12:4:-8.11,-1.20,-7.39:61.88 -chr1 2202686 . G A 35.24 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=79.87;MQ=9.88;MQ0=42;QD=0.50;SB=-3.99 GT:AD:DP:GL:GQ 0/1:59,12:4:-8.01,-1.21,-5.99:47.86 -chr1 2202707 . C T 38.48 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=10.09;MQ=9.21;MQ0=26;QD=0.82;SB=-10.00 GT:AD:DP:GL:GQ 0/1:44,3:4:-8.34,-1.21,-5.59:43.85 -chr1 2202728 . T C 26.83 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=9.84;MQ=8.94;MQ0=16;QD=1.07;SB=-10.00 GT:AD:DP:GL:GQ 1/1:12,12:2:-6.09,-0.60,-0.00:6.01 -chr1 2202823 . G A 38.25 LowQual AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=1;HaplotypeScore=5.28;MQ=19.51;MQ0=2;QD=3.82;SB=-10.00 GT:AD:DP:GL:GQ 0/1:2,8:3:-8.01,-0.90,-3.57:26.65 -chr1 2203054 . A C 12.92 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=9.60;MQ0=26;QD=0.31;SB=-27.98 GT:AD:DP:GL:GQ 0/1:36,6:4:-5.76,-1.21,-6.84:45.53 -chr1 2203334 . C T 27.36 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=0;HaplotypeScore=7.10;MQ=12.34;MQ0=21;QD=0.94;SB=-37.65 GT:AD:DP:GL:GQ 0/1:21,8:4:-7.23,-1.21,-5.77:45.59 -chr1 2203377 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=20.17;MQ=13.03;MQ0=22;OQ=140.31;QD=3.79;SB=-42.53 GT:AD:DP:GL:GQ 0/1:23,14:7:-19.42,-2.11,-7.14:50.30 -chr1 2203636 . C T 0.06 PASS AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=18.31;MQ0=12;OQ=75.25;QD=2.03;SB=-3.99 GT:AD:DP:GL:GQ 0/1:28,9:19:-16.53,-5.73,-47.88:99 -chr1 2203679 rs2643914 C T 0.11 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=6.14;MQ=18.30;MQ0=12;OQ=93.96;QD=1.92;SB=-63.48 GT:AD:DP:GL:GQ 0/1:36,12:24:-19.91,-7.23,-64.90:99 -chr1 2203718 rs2645079 T C 32.47 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=22.98;MQ0=8;OQ=123.75;QD=3.75;SB=-10.00 GT:AD:DP:GL:GQ 0/1:13,20:15:-20.18,-4.52,-29.86:99 -chr1 2203765 rs12117574 T C 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=5.02;MQ=32.99;MQ0=11;OQ=133.28;QD=2.18;SB=-88.55 GT:AD:DP:GL:GQ 0/1:50,11:38:-28.07,-11.46,-111.19:99 -chr1 2204009 . C G 47.74 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=47.05;MQ0=0;OQ=366.61;QD=8.94;SB=-120.51 GT:AD:DP:GL:GQ 0/1:27,14:39:-51.71,-11.77,-108.96:99 -chr1 2206228 rs4648821 T G 261.20 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=59.19;MQ0=0;OQ=657.01;QD=12.63;SB=-349.05 GT:AD:DP:GL:GQ 0/1:29,23:51:-84.34,-15.36,-102.93:99 -chr1 2206251 rs6689315 A G 495.75 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.86;MQ0=0;OQ=794.59;QD=13.94;SB=-403.30 GT:AD:DP:GL:GQ 0/1:29,28:56:-99.61,-16.87,-113.15:99 -chr1 2206925 rs61759158 G A 51.82 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.90;MQ=54.01;MQ0=0;OQ=371.96;QD=12.40;SB=-7.00 GT:AD:DP:GL:GQ 0/1:17,13:28:-48.92,-8.45,-48.51:99 -chr1 2207673 . G C 46.34 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=3;HaplotypeScore=11.90;MQ=55.68;MQ0=0;QD=1.03;SB=71.27 GT:AD:DP:GL:GQ 0/1:33,12:36:-18.77,-10.85,-141.59:79.18 -chr1 2207894 . C T 62.11 PASS AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=0;HaplotypeScore=3.51;MQ=60.00;MQ0=0;OQ=1408.04;QD=16.96;SB=-562.41 GT:AD:DP:GL:GQ 0/1:38,45:79:-167.91,-23.82,-117.96:99 -chr1 2208688 rs10910049 G T 213.58 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=47.61;MQ0=2;OQ=399.96;QD=8.89;SB=-196.49 GT:AD:DP:GL:GQ 0/1:28,17:40:-55.33,-12.05,-79.33:99 -chr1 2208825 rs6691983 C T 81.79 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=2.59;MQ=52.03;MQ0=1;OQ=657.40;QD=17.30;SB=-233.73 GT:AD:DP:GL:GQ 0/1:18,20:35:-79.57,-10.55,-49.20:99 -chr1 2208828 rs6682474 G A 54.35 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=53.40;MQ0=1;OQ=696.36;QD=18.33;SB=-278.18 GT:AD:DP:GL:GQ 0/1:17,21:37:-84.07,-11.15,-57.35:99 -chr1 2209299 rs56051051 T G 55.14 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=58.49;MQ0=0;OQ=442.31;QD=9.41;SB=-244.75 GT:AD:DP:GL:GQ 0/1:22,25:42:-60.17,-12.66,-79.16:99 -chr1 2209740 rs17372827 A C 232.76 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=877.78;QD=13.10;SB=-279.93 GT:AD:DP:GL:GQ 0/1:36,31:66:-110.94,-19.88,-129.70:99 -chr1 2209930 rs4648823 T A 295.53 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=3.07;MQ=59.11;MQ0=0;OQ=697.00;QD=13.40;SB=-278.32 GT:AD:DP:GL:GQ 0/1:27,24:50:-88.05,-15.06,-97.62:99 -chr1 2210285 rs2643884 T C 4 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=5.32;MQ=58.60;MQ0=0;OQ=1465.33;QD=29.31;SB=-698.59 GT:AD:DP:GL:GQ 1/1:0,50:47:-150.17,-14.18,-0.05:99 -chr1 2210377 rs1039065 A C 393.22 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.65;MQ0=0;OQ=1107.46;QD=29.14;SB=-383.86 GT:AD:DP:GL:GQ 1/1:0,38:36:-114.37,-10.85,-0.04:99 -chr1 2210509 rs2017143 C T 306.58 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.15;MQ0=0;OQ=1280.02;QD=38.79;SB=-395.53 GT:AD:DP:GL:GQ 1/1:0,33:33:-131.60,-9.94,-0.01:99 -chr1 2211082 rs2643885 A C 289.56 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.73;MQ0=0;OQ=1017.95;QD=35.10;SB=-113.02 GT:AD:DP:GL:GQ 1/1:0,29:29:-105.39,-8.74,-0.01:87.26 -chr1 2211133 rs2843166 C A 247.56 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.20;MQ0=0;OQ=767.67;QD=31.99;SB=-111.83 GT:AD:DP:GL:GQ 1/1:0,24:23:-80.36,-6.93,-0.01:69.19 -chr1 2211394 rs903924 A G 577.26 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=1710.61;QD=33.54;SB=-819.09 GT:AD:DP:GL:GQ 1/1:0,51:49:-174.66,-14.76,-0.02:99 -chr1 2211494 rs903923 G C 2.57 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=5.22;MQ=56.20;MQ0=0;OQ=1828.69;QD=36.57;SB=-846.47 GT:AD:DP:GL:GQ 1/1:0,50:45:-186.48,-13.57,-0.02:99 -chr1 2211496 rs903922 A T 57.75 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.95;MQ=56.42;MQ0=0;OQ=1691.54;QD=31.92;SB=-801.63 GT:AD:DP:GL:GQ 1/1:0,53:49:-172.77,-14.77,-0.03:99 -chr1 2211936 rs903921 G A 86.49 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=57.20;MQ0=0;OQ=1373.97;QD=32.71;SB=-609.72 GT:AD:DP:GL:GQ 1/1:1,40:39:-143.60,-11.76,-2.62:91.42 -chr1 2212420 rs903920 A G 98.07 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.39;MQ0=0;OQ=1274.47;QD=33.54;SB=-555.35 GT:AD:DP:GL:GQ 1/1:0,38:37:-131.05,-11.15,-0.02:99 -chr1 2212443 rs903919 T C 439.40 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=897.63;QD=27.20;SB=-373.47 GT:AD:DP:GL:GQ 1/1:0,33:30:-93.38,-9.05,-0.03:90.19 -chr1 2212983 rs2172900 T C 377 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.42;MQ0=0;OQ=1306.72;QD=32.67;SB=-161.75 GT:AD:DP:GL:GQ 1/1:0,40:40:-134.28,-12.05,-0.02:99 -chr1 2213118 rs2132303 T C 18.89 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=58.55;MQ0=0;OQ=1347.55;QD=32.08;SB=-116.87 GT:AD:DP:GL:GQ 1/1:0,41:39:-138.35,-11.75,-0.01:99 -chr1 2214142 rs903617 A G 32.99 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=2.29;MQ=58.97;MQ0=0;OQ=1261.61;QD=28.04;SB=-567.89 GT:AD:DP:GL:GQ 1/1:0,45:41:-129.80,-12.38,-0.05:99 -chr1 2214469 rs2643886 T G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=5;HaplotypeScore=4.66;MQ=57.70;MQ0=0;OQ=1258.31;QD=26.77;SB=-451.03 GT:AD:DP:GL:GQ 1/1:1,46:38:-129.44,-11.45,-0.02:99 -chr1 2214505 rs2645091 A G 160.46 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=58.58;MQ0=0;OQ=1430.84;QD=31.11;SB=-424.25 GT:AD:DP:GL:GQ 1/1:0,46:44:-146.70,-13.26,-0.03:99 -chr1 2214736 rs10910050 A C 929.01 Indel AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=9;HaplotypeScore=4.06;MQ=59.20;MQ0=0;QD=27.32;SB=-435.82 GT:AD:DP:GL:GQ 1/1:1,33:28:-96.50,-8.43,-0.01:84.23 -chr1 2215144 rs1532385 G A 183.41 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=59.56;MQ0=0;OQ=1969.69;QD=37.88;SB=-987.83 GT:AD:DP:GL:GQ 1/1:1,51:50:-200.57,-15.06,-0.01:99 -chr1 2216193 rs903918 T A 121.47 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=60.00;MQ0=0;OQ=1515.17;QD=34.44;SB=-696.39 GT:AD:DP:GL:GQ 1/1:0,44:41:-155.11,-12.35,-0.01:99 -chr1 2216414 . T G 45.79 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=2;HaplotypeScore=10.58;MQ=58.61;MQ0=0;QD=0.68;SB=86.26 GT:AD:DP:GL:GQ 0/1:37,30:42:-20.52,-12.66,-118.85:78.63 -chr1 2217282 rs2843163 C T 190.11 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=4.18;MQ=57.17;MQ0=0;OQ=844.33;QD=16.89;SB=-357.35 GT:AD:DP:GL:GQ 0/1:22,28:45:-101.28,-13.56,-64.72:99 -chr1 2217535 rs56117572 A C 228.37 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=59.71;MQ0=0;OQ=819.93;QD=12.61;SB=-293.99 GT:AD:DP:GL:GQ 0/1:33,32:61:-103.65,-18.38,-105.35:99 -chr1 2219307 rs2643888 A G 69.82 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=2.64;MQ=59.39;MQ0=0;OQ=1301.49;QD=34.25;SB=-624.24 GT:AD:DP:GL:GQ 1/1:0,38:38:-133.76,-11.45,-0.02:99 -chr1 2219413 rs2843161 C T 101.78 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=60.00;MQ0=0;OQ=1668.32;QD=37.92;SB=-845.15 GT:AD:DP:GL:GQ 1/1:0,44:43:-170.43,-12.96,-0.01:99 -chr1 2219777 . C T 48.76 PASS AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=0;HaplotypeScore=3.44;MQ=59.45;MQ0=0;OQ=599.56;QD=14.28;SB=-283.32 GT:AD:DP:GL:GQ 0/1:19,21:37:-74.40,-11.16,-63.66:99 -chr1 2220425 rs56341331 C G 57.44 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.43;MQ=59.52;MQ0=0;OQ=468.59;QD=12.02;SB=-132.55 GT:AD:DP:GL:GQ 0/1:23,16:35:-60.70,-10.56,-79.04:99 -chr1 2221427 rs1809823 G T 87.22 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=59.54;MQ0=0;OQ=673.61;QD=16.43;SB=-228.53 GT:AD:DP:GL:GQ 0/1:18,23:40:-82.70,-12.05,-57.34:99 -chr1 2221826 rs55710545 G C 290.21 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=59.48;MQ0=0;OQ=503.65;QD=11.45;SB=-276.95 GT:AD:DP:GL:GQ 0/1:26,18:42:-66.31,-12.67,-107.95:99 -chr1 2223172 rs903618 A G 139.54 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=1447.93;QD=30.17;SB=-664.81 GT:AD:DP:GL:GQ 1/1:0,48:47:-148.43,-14.18,-0.05:99 -chr1 2224111 rs1496555 A G 103.05 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=57.88;MQ0=0;OQ=1360.32;QD=32.39;SB=-504.48 GT:AD:DP:GL:GQ 1/1:0,42:39:-139.63,-11.75,-0.01:99 -chr1 2224763 rs2256178 C T 433.01 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.54;MQ0=0;OQ=665.60;QD=16.23;SB=-342.52 GT:AD:DP:GL:GQ 0/1:20,21:41:-82.21,-12.37,-61.19:99 -chr1 2225516 rs11577387 G A 98.98 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=58.87;MQ0=0;OQ=626.11;QD=16.92;SB=-209.93 GT:AD:DP:GL:GQ 0/1:17,20:32:-75.54,-9.65,-40.72:99 -chr1 2226199 rs4648825 T C 63.68 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=59.17;MQ0=0;OQ=999.95;QD=17.24;SB=-492.13 GT:AD:DP:GL:GQ 0/1:22,36:55:-119.85,-16.57,-85.50:99 -chr1 2226557 rs2643904 A G 112.25 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=1.91;MQ=59.50;MQ0=0;OQ=1489.85;QD=32.39;SB=-771.11 GT:AD:DP:GL:GQ 1/1:0,46:44:-152.59,-13.26,-0.02:99 -chr1 2226618 rs2843158 G C 77.30 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.95;MQ0=0;OQ=1399.75;QD=34.99;SB=-297.26 GT:AD:DP:GL:GQ 1/1:0,40:37:-143.60,-11.18,-0.04:99 -chr1 2227108 rs11580302 A G 15.25 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=4.17;MQ=58.99;MQ0=0;OQ=1313.96;QD=28.56;SB=-483.14 GT:AD:DP:GL:GQ 1/1:0,46:42:-135.02,-12.67,-0.04:99 -chr1 2228420 . T C 34.45 PASS AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=59.20;MQ0=0;OQ=345.13;QD=11.90;SB=-158.70 GT:AD:DP:GL:GQ 0/1:16,13:29:-46.53,-8.74,-63.45:99 -chr1 2229866 rs2173049 T C 234.22 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=58.01;MQ0=0;OQ=1791.17;QD=29.36;SB=-845.65 GT:AD:DP:GL:GQ 1/1:0,60:57:-182.75,-17.19,-0.05:99 -chr1 2230243 rs2843157 C T 3.13 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=2;HaplotypeScore=5.43;MQ=58.16;MQ0=0;OQ=293.03;QD=7.71;SB=-52.03 GT:AD:DP:GL:GQ 0/1:21,15:25:-40.13,-7.54,-43.56:99 -chr1 2233378 rs2843156 C T 2.48 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=59.97;MQ0=0;OQ=1676.83;QD=39.00;SB=-476.64 GT:AD:DP:GL:GQ 1/1:0,43:42:-171.28,-12.65,-0.01:99 -chr1 2234765 rs2843154 C T 245.28 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=59.42;MQ0=0;OQ=364.59;QD=11.39;SB=-94.60 GT:AD:DP:GL:GQ 0/1:19,13:29:-48.48,-8.74,-59.24:99 -chr1 2235081 rs2843153 C T 158.69 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.00;MQ0=0;OQ=1550.87;QD=36.93;SB=-657.38 GT:AD:DP:GL:GQ 1/1:0,42:40:-158.69,-12.05,-0.01:99 -chr1 2235299 rs2643902 T C 83.90 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=58.80;MQ0=0;OQ=1694.87;QD=26.90;SB=-805.69 GT:AD:DP:GL:GQ 1/1:0,63:54:-173.12,-16.28,-0.05:99 -chr1 2235430 rs2843152 C G 36.95 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.38;MQ0=0;OQ=1353.71;QD=36.59;SB=-455.86 GT:AD:DP:GL:GQ 1/1:0,37:35:-138.99,-10.57,-0.03:99 -chr1 2235493 rs2843151 C T 341.97 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.95;MQ0=0;OQ=1519.57;QD=37.99;SB=-552.74 GT:AD:DP:GL:GQ 1/1:0,40:39:-155.55,-11.75,-0.01:99 -chr1 2237259 rs2643903 T C 68.22 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=58.78;MQ0=0;OQ=1099.17;QD=28.93;SB=-371.38 GT:AD:DP:GL:GQ 1/1:0,38:35:-113.53,-10.55,-0.03:99 -chr1 2237347 rs2645076 A G 8.05 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=892.74;QD=27.90;SB=-347.40 GT:AD:DP:GL:GQ 1/1:0,32:29:-92.89,-8.75,-0.03:87.17 -chr1 2237604 rs2843150 G C 105.40 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=58.39;MQ0=0;OQ=929.83;QD=32.06;SB=-483.10 GT:AD:DP:GL:GQ 1/1:0,29:23:-96.58,-6.93,-0.01:69.23 -chr1 2237845 rs2643905 T C 349.37 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.39;MQ0=0;OQ=1229.58;QD=32.36;SB=-467.52 GT:AD:DP:GL:GQ 1/1:0,38:37:-126.56,-11.15,-0.02:99 -chr1 2238243 rs60565777 G T 1452.57 Indel AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=60.48;MQ0=0;QD=34.58;SB=-671.66 GT:AD:DP:GL:GQ 1/1:0,42:42:-148.86,-12.66,-0.02:99 -chr1 2238484 rs12035836 A C 189.10 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.53;MQ0=0;OQ=471.85;QD=11.80;SB=-205.81 GT:AD:DP:GL:GQ 0/1:20,20:36:-61.31,-10.85,-64.85:99 -chr1 2239096 rs2645077 G A 27.69 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=2;HaplotypeScore=1.28;MQ=59.32;MQ0=0;OQ=1136.46;QD=33.43;SB=-382.99 GT:AD:DP:GL:GQ 1/1:0,33:31:-117.25,-9.35,-0.02:93.28 -chr1 2241682 . G A 17.89 PASS AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=4.02;MQ=57.94;MQ0=0;OQ=417.19;QD=12.27;SB=-164.16 GT:AD:DP:GL:GQ 0/1:17,17:31:-54.36,-9.35,-49.53:99 -chr1 2243754 rs56393204 G A 58.20 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=58.84;MQ0=0;OQ=282.27;QD=14.11;SB=-81.31 GT:AD:DP:GL:GQ 0/1:7,11:14:-35.73,-4.22,-15.87:99 -chr1 2244770 rs2645075 T C 149.18 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.02;MQ0=0;OQ=1276.49;QD=27.75;SB=-655.75 GT:AD:DP:GL:GQ 1/1:0,46:42:-131.28,-12.68,-0.05:99 -chr1 2245871 rs2645074 A G 281.10 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.11;MQ0=0;OQ=516.48;QD=10.99;SB=-220.38 GT:AD:DP:GL:GQ 0/1:24,23:43:-67.90,-12.97,-87.14:99 -chr1 2246105 rs2843148 A T 522.32 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.70;MQ0=0;OQ=1342.05;QD=33.55;SB=-593.22 GT:AD:DP:GL:GQ 1/1:0,40:36:-137.80,-10.84,-0.01:99 -chr1 2246150 . C T 22.21 PASS AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=51.90;MQ0=0;OQ=477.24;QD=15.39;SB=-219.23 GT:AD:DP:GL:GQ 0/1:15,16:26:-58.85,-7.84,-34.36:99 -chr1 2246331 . T A 1.20 PASS AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.33;MQ=56.18;MQ0=0;OQ=642.82;QD=20.09;SB=-121.93 GT:AD:DP:GL:GQ 0/1:11,21:32:-77.21,-9.64,-40.89:99 -chr1 2246422 . C T 17.03 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=2;HaplotypeScore=46.69;MQ=32.60;MQ0=2;QD=0.46;SB=17.08 GT:AD:DP:GL:GQ 0/1:33,4:25:-12.51,-7.53,-79.77:49.78 -chr1 2246424 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=2;HaplotypeScore=54.85;MQ=32.43;MQ0=2;OQ=173.30;QD=4.56;SB=-18.60 GT:AD:DP:GL:GQ 0/1:26,12:25:-28.15,-7.53,-68.25:99 -chr1 2246439 rs9725291 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=64.95;MQ=33.89;MQ0=1;OQ=86.92;QD=2.12;SB=-39.19 GT:AD:DP:GL:GQ 0/1:33,8:25:-19.51,-7.53,-71.60:99 -chr1 2246445 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=1;HaplotypeScore=48.09;MQ=35.48;MQ0=0;OQ=216.97;QD=4.82;SB=-10.56 GT:AD:DP:GL:GQ 0/1:34,11:29:-33.72,-8.74,-70.74:99 -chr1 2246456 . C T 34.43 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=1;HaplotypeScore=27.71;MQ=37.83;MQ0=0;QD=0.69;SB=1.58 GT:AD:DP:GL:GQ 0/1:43,7:33:-16.67,-9.94,-103.65:67.27 -chr1 2246469 . T C 28.75 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=49;Dels=0.02;HRun=2;HaplotypeScore=77.34;MQ=40.72;MQ0=0;QD=0.59;SB=44.16 GT:AD:DP:GL:GQ 0/1:38,10:28:-14.30,-8.14,-89.44:61.58 -chr1 2246471 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=2;HaplotypeScore=72.35;MQ=42.43;MQ0=0;OQ=76.08;QD=1.58;SB=-6.17 GT:AD:DP:GL:GQ 0/1:36,12:29:-19.64,-8.74,-87.84:99 -chr1 2246484 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=2;HaplotypeScore=51.65;MQ=47.04;MQ0=0;OQ=81.71;QD=2.15;SB=50.19 GT:AD:DP:GL:GQ 0/1:29,8:26:-19.29,-7.83,-83.08:99 -chr1 2246793 . G A 5.64 PASS AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=1;HaplotypeScore=3.91;MQ=55.18;MQ0=1;OQ=1074.55;QD=18.53;SB=-560.61 GT:AD:DP:GL:GQ 0/1:23,35:54:-127.01,-16.27,-81.39:99 -chr1 2247067 rs35006635 C A 47.20 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=58.81;MQ0=0;OQ=1074.59;QD=21.07;SB=-429.40 GT:AD:DP:GL:GQ 1/1:0,28:51:-197.40,-96.91,-86.36:99 -chr1 2247213 rs12566205 C T 241.62 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.55;MQ=57.90;MQ0=0;OQ=759.24;QD=13.09;SB=-368.12 GT:AD:DP:GL:GQ 0/1:33,25:57:-96.39,-17.18,-106.07:99 -chr1 2247351 rs2643892 C T 241.87 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.94;MQ0=0;OQ=665.97;QD=19.59;SB=-340.91 GT:AD:DP:GL:GQ 0/1:14,20:33:-79.82,-9.94,-42.88:99 -chr1 2247555 rs10910051 G A 197.02 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=4.80;MQ=58.86;MQ0=0;OQ=1049.52;QD=16.15;SB=-447.98 GT:AD:DP:GL:GQ 0/1:31,34:61:-126.63,-18.39,-90.57:99 -chr1 2247587 rs2643893 C T 300.53 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=58.44;MQ0=0;OQ=2112.94;QD=35.22;SB=-1052.32 GT:AD:DP:GL:GQ 1/1:0,60:56:-214.91,-16.88,-0.03:99 -chr1 2247723 rs2645092 C T 700.02 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.71;MQ0=0;OQ=2085.22;QD=38.62;SB=-998.04 GT:AD:DP:GL:GQ 1/1:0,54:53:-212.12,-15.97,-0.01:99 -chr1 2247791 rs2645093 G A 189.38 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=60.00;MQ0=0;OQ=700.42;QD=15.92;SB=-289.76 GT:AD:DP:GL:GQ 0/1:22,22:42:-85.99,-12.66,-67.45:99 -chr1 2248183 rs2643894 C T 135.91 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.68;MQ=57.95;MQ0=0;OQ=1940.09;QD=35.27;SB=-797.32 GT:AD:DP:GL:GQ 1/1:0,55:52:-197.62,-15.67,-0.03:99 -chr1 2248333 rs2643895 G A 408.80 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.33;MQ0=0;OQ=2697.00;QD=39.09;SB=-1222.14 GT:AD:DP:GL:GQ 1/1:0,69:68:-273.30,-20.48,-0.02:99 -chr1 2248552 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=5.80;MQ=51.38;MQ0=0;OQ=50.72;QD=0.83;SB=23.47 GT:AD:DP:GL:GQ 0/1:53,7:56:-28.20,-19.84,-214.64:83.56 -chr1 2248554 . G A 35.21 LowQual AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=3;HaplotypeScore=5.80;MQ=51.10;MQ0=0;QD=0.57;SB=-8.06 GT:AD:DP:GL:GQ 0/1:56,6:58:-24.27,-17.47,-188.51:68.04 -chr1 2248658 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=56.92;MQ0=0;OQ=60.63;QD=0.88;SB=6.91 GT:AD:DP:GL:GQ 0/1:61,8:68:-29.84,-20.49,-240.21:93.47 -chr1 2249886 . C T 54.96 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=-0.12;MQ=60.00;MQ0=0;OQ=750.55;QD=14.72;SB=-348.88 GT:AD:DP:GL:GQ 0/1:25,26:44:-91.61,-13.27,-61.40:99 -chr1 2249910 rs2645063 G A 24.12 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=5.82;MQ=59.50;MQ0=0;OQ=758.18;QD=16.48;SB=-336.52 GT:AD:DP:GL:GQ 0/1:22,24:45:-92.67,-13.57,-67.35:99 -chr1 2250405 rs2645064 G A 151.63 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=58.71;MQ0=0;OQ=569.60;QD=15.82;SB=-242.53 GT:AD:DP:GL:GQ 0/1:16,20:34:-70.49,-10.25,-54.37:99 -chr1 2251037 rs35273536 C T 60.30 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=4.05;MQ=58.82;MQ0=0;OQ=1072.47;QD=18.18;SB=-334.93 GT:AD:DP:GL:GQ 0/1:24,34:52:-128.89,-18.36,-63.36:99 -chr1 2253264 . T C 16.56 Indel;LowQual AC=1;AF=0.50;AN=2;DP=6;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=51.77;MQ0=0;QD=2.76;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,2:6:-6.74,-1.81,-16.62:49.30 -chr1 2253282 . C G 16.92 PASS AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=51.16;MQ0=0;OQ=118.58;QD=9.88;SB=-10.00 GT:AD:DP:GL:GQ 0/1:6,6:11:-18.46,-3.32,-24.69:99 -chr1 2253362 rs12752072 T C 172.88 PASS AC=1;AF=0.50;AN=2;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.89;MQ0=0;OQ=253.44;QD=12.07;SB=-10.00 GT:AD:DP:GL:GQ 0/1:10,11:21:-34.96,-6.33,-38.76:99 -chr1 2254886 rs2645066 G A 78.79 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=5.62;MQ=59.17;MQ0=0;OQ=893.72;QD=15.96;SB=-436.47 GT:AD:DP:GL:GQ 0/1:25,31:52:-108.33,-15.67,-85.72:99 -chr1 2255036 rs2645067 T C 87.26 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.60;MQ0=0;OQ=995.78;QD=33.19;SB=-523.42 GT:AD:DP:GL:GQ 1/1:0,30:29:-103.17,-8.74,-0.01:87.25 -chr1 2255079 rs2643898 C T 28.85 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=59.03;MQ0=0;OQ=590.58;QD=13.73;SB=-262.25 GT:AD:DP:GL:GQ 0/1:23,20:42:-75.01,-12.66,-72.41:99 -chr1 2255654 rs7546567 G A 132.53 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=58.73;MQ0=0;OQ=454.68;QD=13.78;SB=-126.36 GT:AD:DP:GL:GQ 0/1:16,16:32:-61.47,-12.72,-52.76:99 -chr1 2255829 rs2843146 T G 0.05 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=5;HaplotypeScore=0.00;MQ=58.55;MQ0=0;OQ=441.34;QD=27.58;SB=-113.02 GT:AD:DP:GL:GQ 1/1:0,16:14:-47.73,-4.22,-0.01:42.10 -chr1 2255938 rs2643899 T C 18.62 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.33;MQ=58.69;MQ0=0;OQ=756.05;QD=23.63;SB=-323.76 GT:AD:DP:GL:GQ 1/1:0,32:26:-79.22,-7.85,-0.03:78.14 -chr1 2256793 rs903905 C T 99.15 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=58.29;MQ0=0;OQ=354.28;QD=16.10;SB=-192.21 GT:AD:DP:GL:GQ 0/1:10,12:21:-45.05,-6.33,-27.84:99 -chr1 2258430 rs12091632 A G 318.94 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.32;MQ0=0;OQ=1030.69;QD=30.31;SB=-507.55 GT:AD:DP:GL:GQ 1/1:0,34:33:-106.69,-9.95,-0.03:99 -chr1 2258440 rs12085675 G A 96.71 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=59.39;MQ0=0;OQ=1318.84;QD=34.71;SB=-520.68 GT:AD:DP:GL:GQ 1/1:0,37:35:-135.49,-10.55,-0.02:99 -chr1 2258510 rs28394874 C G 5.91 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=4.06;MQ=57.77;MQ0=0;OQ=783.94;QD=18.67;SB=-330.90 GT:AD:DP:GL:GQ 0/1:17,25:36:-92.55,-10.88,-48.65:99 -chr1 2258528 rs35986070 A G 102.16 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.27;MQ0=0;OQ=457.65;QD=16.95;SB=-106.83 GT:AD:DP:GL:GQ 0/1:11,16:27:-57.18,-8.13,-41.35:99 -chr1 2258538 rs2645069 T C 177.52 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.13;MQ0=0;OQ=677.36;QD=27.09;SB=-198.05 GT:AD:DP:GL:GQ 1/1:0,25:23:-71.35,-6.94,-0.03:69.14 -chr1 2258598 rs2645070 A G 16.76 PASS AC=1;AF=0.50;AN=2;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=60.00;MQ0=0;OQ=322.02;QD=18.94;SB=-156.34 GT:AD:DP:GL:GQ 0/1:4,13:17:-40.61,-5.13,-15.36:99 -chr1 2258651 rs2843145 A G 4.44 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=3;HaplotypeScore=2.01;MQ=59.14;MQ0=0;OQ=426.64;QD=15.80;SB=-196.02 GT:AD:DP:GL:GQ 0/1:8,19:23:-52.88,-6.93,-31.12:99 -chr1 2258910 . A G 4.11 PASS AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=1;HaplotypeScore=4.17;MQ=58.13;MQ0=0;OQ=457.98;QD=13.09;SB=-246.31 GT:AD:DP:GL:GQ 0/1:17,18:33:-59.02,-9.94,-70.06:99 -chr1 2259759 rs2036085 T C 103.79 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=60.00;MQ0=0;OQ=626.01;QD=14.56;SB=-172.51 GT:AD:DP:GL:GQ 0/1:16,27:40:-77.94,-12.06,-63.91:99 -chr1 2259869 rs12734736 C T 347.07 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=60.00;MQ0=0;OQ=965.34;QD=16.64;SB=-492.13 GT:AD:DP:GL:GQ 0/1:29,29:54:-116.09,-16.28,-80.58:99 -chr1 2259958 rs2843142 A G 263.06 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=2.46;MQ=59.76;MQ0=0;OQ=1095.49;QD=13.87;SB=-502.48 GT:AD:DP:GL:GQ 0/1:40,39:78:-136.33,-23.50,-157.46:99 -chr1 2261724 rs2843141 C T 591.96 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.13;MQ0=0;OQ=1956.29;QD=36.91;SB=-863.62 GT:AD:DP:GL:GQ 1/1:0,53:52:-199.24,-15.68,-0.03:99 -chr1 2262086 rs1472318 C T 44.42 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=57.36;MQ0=0;OQ=484.27;QD=19.37;SB=-215.23 GT:AD:DP:GL:GQ 0/1:8,16:22:-58.34,-6.63,-21.67:99 -chr1 2262763 rs2843139 A G 28.96 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=0.87;MQ=58.77;MQ0=0;OQ=1612.91;QD=30.43;SB=-829.43 GT:AD:DP:GL:GQ 1/1:0,53:52:-164.94,-15.69,-0.06:99 -chr1 2262883 . G A 16 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=49.61;MQ0=5;QD=0.44;SB=-17.46 GT:AD:DP:GL:GQ 0/1:28,8:25:-12.42,-7.54,-69.64:48.73 -chr1 2263004 rs12730050 A G 0.31 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=14.25;MQ=55.46;MQ0=1;OQ=1032.60;QD=11.35;SB=-477.87 GT:AD:DP:GL:GQ 0/1:51,40:84:-131.86,-25.32,-172.18:99 -chr1 2263146 rs2843138 T C 3.27 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.02;HRun=0;HaplotypeScore=5.34;MQ=54.41;MQ0=0;OQ=1335.96;QD=29.04;SB=-625.83 GT:AD:DP:GL:GQ 1/1:0,44:44:-137.23,-12.97,-0.04:99 -chr1 2263291 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=4;HaplotypeScore=15.31;MQ=57.02;MQ0=0;OQ=65.39;QD=1.72;SB=65.25 GT:AD:DP:GL:GQ 0/1:31,7:33:-19.78,-9.96,-120.76:98.22 -chr1 2263292 . A G 14.86 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=3.96;MQ=57.52;MQ0=0;QD=0.41;SB=62.21 GT:AD:DP:GL:GQ 0/1:29,6:31:-14.10,-9.35,-99.44:47.55 -chr1 2263765 rs1472319 T C 33.65 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=3.68;MQ=59.72;MQ0=0;OQ=1846.27;QD=27.56;SB=-842.46 GT:AD:DP:GL:GQ 1/1:0,67:60:-188.28,-18.10,-0.07:99 -chr1 2264170 rs12735747 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=4;HaplotypeScore=15.88;MQ=53.27;MQ0=1;OQ=600.98;QD=16.24;SB=-322.72 GT:AD:DP:GL:GQ 0/1:17,20:33:-73.32,-9.94,-46.93:99 -chr1 2264171 rs12740557 T A 0.25 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=15.88;MQ=53.27;MQ0=1;OQ=596.15;QD=16.11;SB=-294.37 GT:AD:DP:GL:GQ 0/1:17,20:33:-72.84,-9.94,-48.77:99 -chr1 2264298 rs61288374 A G 10.67 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=4.66;MQ=58.45;MQ0=0;OQ=219.39;QD=7.31;SB=-3.98 GT:AD:DP:GL:GQ 0/1:16,13:26:-33.06,-7.84,-58.70:99 -chr1 2264816 rs4648828 G A 38.81 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.55;MQ=58.44;MQ0=0;OQ=661.80;QD=16.97;SB=-286.79 GT:AD:DP:GL:GQ 0/1:17,22:36:-80.32,-10.86,-47.76:99 -chr1 2264998 rs4648829 C T 229.79 PASS AC=1;AF=0.50;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=58.45;MQ0=0;OQ=171.83;QD=11.46;SB=-76.07 GT:AD:DP:GL:GQ 0/1:9,6:13:-24.38,-3.92,-22.89:99 -chr1 2265236 rs4648830 T G 6.90 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=58.55;MQ0=0;OQ=452.22;QD=28.26;SB=-174.97 GT:AD:DP:GL:GQ 1/1:0,16:15:-48.82,-4.52,-0.01:45.09 -chr1 2265809 rs2643909 C G 56 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=57.02;MQ0=0;OQ=1592.56;QD=34.62;SB=-562.49 GT:AD:DP:GL:GQ 1/1:0,46:39:-162.87,-11.76,-0.03:99 -chr1 2265882 . G A 8.69 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.87;MQ0=0;OQ=753.33;QD=18.37;SB=-247.76 GT:AD:DP:GL:GQ 0/1:17,24:37:-89.77,-11.15,-48.26:99 -chr1 2265933 . T C 0.10 PASS AC=1;AF=0.50;AN=2;DP=33;Dels=0.00;HRun=3;HaplotypeScore=2.25;MQ=58.59;MQ0=0;OQ=218.96;QD=6.64;SB=-11.87 GT:AD:DP:GL:GQ 0/1:21,12:30:-34.22,-9.04,-78.51:99 -chr1 2266056 rs11589063 C A 17.26 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=3.57;MQ=58.25;MQ0=0;OQ=453.86;QD=11.35;SB=-250.27 GT:AD:DP:GL:GQ 0/1:23,17:40:-60.72,-12.05,-77.71:99 -chr1 2266060 rs2843137 T A 278.60 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=57.66;MQ0=0;OQ=421.83;QD=10.55;SB=-226.71 GT:AD:DP:GL:GQ 0/1:23,17:37:-56.61,-11.15,-79.80:99 -chr1 2266231 rs11589451 C A 57.46 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=5.26;MQ=58.41;MQ0=0;OQ=597.75;QD=10.67;SB=-255.49 GT:AD:DP:GL:GQ 0/1:32,24:50:-78.13,-15.07,-90.69:99 -chr1 2266279 rs11590175 A G 185.77 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=59.15;MQ0=0;OQ=537.72;QD=10.97;SB=-262.22 GT:AD:DP:GL:GQ 0/1:22,25:41:-69.42,-12.37,-72.12:99 -chr1 2266621 . G A 34.89 PASS AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=3.35;MQ=59.21;MQ0=0;OQ=474.72;QD=13.56;SB=-211.70 GT:AD:DP:GL:GQ 0/1:17,18:29:-59.50,-8.75,-41.35:99 -chr1 2267026 . G A 47.30 PASS AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=58.99;MQ0=0;OQ=613.73;QD=16.59;SB=-254.78 GT:AD:DP:GL:GQ 0/1:17,20:34:-74.91,-10.25,-50.44:99 -chr1 2267073 . T C 188.99 PASS AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.75;MQ0=0;OQ=394.61;QD=9.87;SB=-211.55 GT:AD:DP:GL:GQ 0/1:22,18:38:-54.20,-11.45,-84.44:99 -chr1 2267410 rs61762093 G C 176.11 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=3.35;MQ=56.22;MQ0=0;OQ=747.58;QD=15.26;SB=-308.18 GT:AD:DP:GL:GQ 0/1:27,22:44:-91.30,-13.26,-97.18:99 -chr1 2267687 rs2843134 G A 624.83 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.67;MQ0=0;OQ=2217.24;QD=36.95;SB=-1015.91 GT:AD:DP:GL:GQ 1/1:0,60:58:-225.33,-17.48,-0.02:99 -chr1 2267975 rs12409523 G C 1.77 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=5.47;MQ=59.03;MQ0=0;OQ=822.23;QD=17.13;SB=-209.63 GT:AD:DP:GL:GQ 0/1:24,24:46:-99.39,-13.88,-93.78:99 -chr1 2268100 rs2132595 C T 240.52 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=58.35;MQ0=0;OQ=844.37;QD=16.56;SB=-387.19 GT:AD:DP:GL:GQ 0/1:23,28:47:-101.89,-14.17,-71.24:99 -chr1 2268508 rs2843133 A G 0.07 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=4;HaplotypeScore=2.38;MQ=57.65;MQ0=0;OQ=995.04;QD=26.19;SB=-340.62 GT:AD:DP:GL:GQ 1/1:0,38:30:-103.10,-9.04,-0.01:90.24 -chr1 2268841 rs2643910 C T 6.12 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=3.07;MQ=58.25;MQ0=0;OQ=784.65;QD=19.62;SB=-334.39 GT:AD:DP:GL:GQ 0/1:16,24:39:-93.50,-11.75,-52.91:99 -chr1 2269677 rs56030548 C T 80.69 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=57.12;MQ0=0;OQ=443.83;QD=15.85;SB=-131.12 GT:AD:DP:GL:GQ 0/1:13,15:27:-55.80,-8.14,-42.23:99 -chr1 2269999 rs35941092 C T 0.23 PASS AC=1;AF=0.50;AN=2;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=8.68;MQ=48.71;MQ0=0;OQ=64.58;QD=4.61;SB=-21.48 GT:AD:DP:GL:GQ 0/1:10,4:14:-13.97,-4.23,-30.76:97.42 -chr1 2270100 . T A 5.69 PASS AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=56.04;MQ0=0;OQ=92.13;QD=5.12;SB=-47.85 GT:AD:DP:GL:GQ 0/1:13,5:18:-17.92,-5.42,-46.07:99 -chr1 2270283 rs2645072 A C 0.37 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=4;HaplotypeScore=0.16;MQ=56.22;MQ0=0;OQ=963.23;QD=33.21;SB=-173.01 GT:AD:DP:GL:GQ 1/1:0,29:28:-99.92,-8.44,-0.01:84.24 -chr1 2270521 rs2055204 G A 60.41 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=3.82;MQ=59.66;MQ0=0;OQ=983.74;QD=17.89;SB=-468.43 GT:AD:DP:GL:GQ 0/1:22,33:52:-117.32,-15.67,-79.90:99 -chr1 2271586 rs7527871 A C 436.10 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=60.00;MQ0=0;OQ=784.91;QD=12.08;SB=-319.01 GT:AD:DP:GL:GQ 0/1:36,29:64:-101.05,-19.28,-130.62:99 -chr1 2271838 rs1039063 T G 2.04 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=5;HaplotypeScore=1.22;MQ=60.00;MQ0=0;OQ=495.93;QD=11.27;SB=-259.90 GT:AD:DP:GL:GQ 0/1:22,22:41:-65.23,-12.35,-74.62:99 -chr1 2271995 rs10910053 G A 269.15 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=60.00;MQ0=0;OQ=928.57;QD=18.95;SB=-437.81 GT:AD:DP:GL:GQ 0/1:20,29:47:-110.30,-14.16,-67.66:99 -chr1 2272064 . G A 22.07 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=4.67;MQ=59.48;MQ0=0;OQ=676.05;QD=15.36;SB=-356.51 GT:AD:DP:GL:GQ 0/1:22,22:42:-83.55,-12.66,-69.45:99 -chr1 2272233 . C T 4.84 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=1;HaplotypeScore=3.42;MQ=59.14;MQ0=0;OQ=912.77;QD=16.90;SB=-354.47 GT:AD:DP:GL:GQ 0/1:26,28:53:-110.53,-15.96,-92.85:99 -chr1 2272335 . T G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=2;HaplotypeScore=2.06;MQ=56.98;MQ0=0;OQ=124.90;QD=3.20;SB=56.19 GT:AD:DP:GL:GQ 0/1:24,15:32:-25.41,-9.64,-85.35:99 -chr1 2272540 rs2279704 C T 249.66 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.91;MQ=59.55;MQ0=0;OQ=742.26;QD=14.55;SB=-245.76 GT:AD:DP:GL:GQ 0/1:25,25:47:-91.67,-14.16,-87.05:99 -chr1 2272636 rs2254874 G C 9.15 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=3.74;MQ=56.62;MQ0=0;OQ=1562.16;QD=37.19;SB=-628.86 GT:AD:DP:GL:GQ 1/1:0,42:38:-159.82,-11.46,-0.02:99 -chr1 2272850 rs2036082 C T 429.96 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.50;MQ0=0;OQ=669.32;QD=14.55;SB=-278.20 GT:AD:DP:GL:GQ 0/1:25,21:46:-84.08,-13.87,-81.55:99 -chr1 2273702 rs2643912 G T 414.73 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=338.96;QD=15.41;SB=-195.57 GT:AD:DP:GL:GQ 0/1:9,13:21:-43.50,-6.33,-31.88:99 -chr1 2273756 rs2840528 A G 171.15 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.44;MQ0=0;OQ=666.96;QD=16.27;SB=-294.48 GT:AD:DP:GL:GQ 0/1:18,23:41:-82.33,-12.35,-70.40:99 -chr1 2273863 rs2645082 T C 3.28 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=2.08;MQ=58.41;MQ0=0;OQ=1044.33;QD=23.73;SB=-369.45 GT:AD:DP:GL:GQ 1/1:0,44:35:-108.06,-10.56,-0.04:99 -chr1 2274055 rs3795272 T C 1.91 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=3;HaplotypeScore=4.58;MQ=58.20;MQ0=0;OQ=382.95;QD=8.15;SB=-128.51 GT:AD:DP:GL:GQ 0/1:28,19:44:-54.84,-13.26,-106.89:99 -chr1 2274346 rs12049067 C T 357.23 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=57.77;MQ0=0;OQ=508.21;QD=12.71;SB=-252.25 GT:AD:DP:GL:GQ 0/1:22,18:38:-65.56,-11.45,-75.12:99 -chr1 2274758 rs2840529 T G 24.15 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=3;HaplotypeScore=0.63;MQ=59.39;MQ0=0;OQ=311.73;QD=8.20;SB=-145.73 GT:AD:DP:GL:GQ 0/1:25,13:34:-44.70,-10.25,-72.81:99 -chr1 2275042 rs2036083 A T 221.53 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=3.71;MQ=59.63;MQ0=0;OQ=509.88;QD=10.20;SB=-241.63 GT:AD:DP:GL:GQ 0/1:29,21:43:-67.22,-12.95,-90.87:99 -chr1 2275274 rs2843129 G A 298.24 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.43;MQ0=0;OQ=2821.79;QD=38.65;SB=-1326.28 GT:AD:DP:GL:GQ 1/1:0,73:71:-285.78,-21.39,-0.02:99 -chr1 2276807 rs1039100 A G 434.33 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1195.19;QD=31.45;SB=-467.43 GT:AD:DP:GL:GQ 1/1:0,38:36:-123.12,-10.85,-0.02:99 -chr1 2277377 rs2645083 T C 625.87 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.89;MQ0=0;OQ=1448.36;QD=34.48;SB=-607.22 GT:AD:DP:GL:GQ 1/1:0,42:42:-148.44,-12.65,-0.02:99 -chr1 2277394 rs11577374 C T 128.24 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.08;MQ=58.95;MQ0=0;OQ=767.18;QD=17.44;SB=-322.88 GT:AD:DP:GL:GQ 0/1:20,24:40:-92.06,-12.06,-52.10:99 -chr1 2277476 rs2645085 T C 300.52 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.58;MQ0=0;OQ=627.13;QD=11.40;SB=-216.37 GT:AD:DP:GL:GQ 0/1:27,28:51:-81.37,-15.38,-100.48:99 -chr1 2277708 rs16825067 G C 15.92 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=3.52;MQ=58.92;MQ0=0;OQ=727.07;QD=18.64;SB=-379.89 GT:AD:DP:GL:GQ 0/1:17,22:37:-87.14,-11.15,-70.33:99 -chr1 2278607 rs2645086 T C 275.36 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.11;MQ0=0;OQ=269.17;QD=10.35;SB=-101.72 GT:AD:DP:GL:GQ 0/1:13,13:25:-37.74,-7.54,-47.79:99 -chr1 2279110 rs903912 C G 0.92 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=12.20;MQ=57.42;MQ0=0;OQ=679.10;QD=12.81;SB=-356.81 GT:AD:DP:GL:GQ 0/1:28,25:46:-85.06,-13.87,-109.25:99 -chr1 2279111 rs903913 T C 0.56 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.02;HRun=1;HaplotypeScore=12.09;MQ=57.42;MQ0=0;OQ=643.89;QD=12.15;SB=-297.64 GT:AD:DP:GL:GQ 0/1:27,25:52:-83.04,-15.37,-108.03:99 -chr1 2279181 rs903914 G A 327.01 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.55;MQ=59.27;MQ0=0;OQ=1113.86;QD=17.68;SB=-571.62 GT:AD:DP:GL:GQ 0/1:30,33:61:-133.06,-18.39,-88.20:99 -chr1 2280148 rs2840544 T C 12.55 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=59.49;MQ0=0;OQ=176.15;QD=3.91;SB=-95.61 GT:AD:DP:GL:GQ 0/1:34,11:43:-33.87,-12.97,-121.04:99 -chr1 2280520 rs2645088 T C 494.99 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=961.96;QD=28.29;SB=-437.29 GT:AD:DP:GL:GQ 1/1:0,34:31:-99.81,-9.35,-0.03:93.20 -chr1 2280750 rs2840543 C T 201 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.69;MQ0=0;OQ=2174.81;QD=36.25;SB=-926.73 GT:AD:DP:GL:GQ 1/1:0,60:56:-221.09,-16.88,-0.02:99 -chr1 2280771 rs2645089 G A 262.49 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.63;MQ0=0;OQ=676.44;QD=13.53;SB=-331.88 GT:AD:DP:GL:GQ 0/1:29,21:47:-85.09,-14.16,-84.51:99 -chr1 2281127 rs6424093 A G 144.23 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=59.16;MQ0=0;OQ=492.45;QD=11.73;SB=-156.68 GT:AD:DP:GL:GQ 0/1:23,19:40:-64.58,-12.05,-85.73:99 -chr1 2281540 rs2840542 T C 309.75 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=56.56;MQ0=0;OQ=2607.54;QD=33.86;SB=-1074.11 GT:AD:DP:GL:GQ 1/1:0,77:73:-264.36,-21.99,-0.02:99 -chr1 2282015 rs2840541 T C 311.98 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.30;MQ0=0;OQ=585.20;QD=9.75;SB=-280.12 GT:AD:DP:GL:GQ 0/1:36,24:60:-79.89,-18.08,-145.26:99 -chr1 2282269 rs2645090 T C 432.32 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.38;MQ0=0;OQ=613.50;QD=9.16;SB=-290.16 GT:AD:DP:GL:GQ 0/1:38,29:64:-83.92,-19.29,-153.60:99 -chr1 2283026 rs2250799 G A 138.76 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.62;MQ0=0;OQ=1864.73;QD=38.06;SB=-791.54 GT:AD:DP:GL:GQ 1/1:0,49:48:-190.08,-14.47,-0.02:99 -chr1 2284017 rs10797420 G A 1.04 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=10.89;MQ=55.69;MQ0=1;OQ=1110.47;QD=17.63;SB=-493.05 GT:AD:DP:GL:GQ 0/1:28,34:55:-130.90,-16.57,-82.96:99 -chr1 2284704 rs55873848 C T 485.15 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.27;MQ0=0;OQ=939.68;QD=16.78;SB=-471.48 GT:AD:DP:GL:GQ 0/1:26,30:53:-113.22,-15.97,-82.15:99 -chr1 2284890 rs7530501 T G 19.05 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=5.02;MQ=57.51;MQ0=0;OQ=731.65;QD=13.80;SB=-124.84 GT:AD:DP:GL:GQ 0/1:25,28:51:-91.81,-15.36,-86.72:99 -chr1 2285068 rs57840322 G A 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=6;HaplotypeScore=29.71;MQ=39.31;MQ0=0;OQ=1533.11;QD=35.65;SB=-660.69 GT:AD:DP:GL:GQ 1/1:0,43:40:-156.91,-12.05,-0.01:99 -chr1 2285112 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=42;Dels=0.05;HRun=7;HaplotypeScore=20.40;MQ=45.44;MQ0=0;OQ=661.72;QD=15.76;SB=-259.95 GT:AD:DP:GL:GQ 0/1:19,21:41:-81.21,-11.75,-63.70:99 -chr1 2285126 rs6682345 A T 200.65 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=50.08;MQ0=0;OQ=1898.67;QD=35.16;SB=-880.24 GT:AD:DP:GL:GQ 1/1:1,53:53:-197.20,-15.96,-3.75:99 -chr1 2285128 rs6682346 A T 359.27 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=50.28;MQ0=0;OQ=737.49;QD=13.41;SB=-376.75 GT:AD:DP:GL:GQ 0/1:30,25:55:-93.60,-16.56,-117.95:99 -chr1 2285638 rs10910055 A C 76.19 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=3.44;MQ=49.97;MQ0=2;OQ=838.51;QD=11.65;SB=-398.65 GT:AD:DP:GL:GQ 0/1:39,33:60:-105.20,-18.07,-117.50:99 -chr1 2285783 rs12026746 C T 166.61 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=27.98;MQ=27.61;MQ0=1;QD=3.54;SB=-10.00 GT:AD:DP:GL:GQ 0/1:32,15:30:-28.99,-9.05,-73.71:99 -chr1 2285784 . A G 712.90 SnpCluster AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=27.98;MQ=27.61;MQ0=1;QD=15.17;SB=-10.00 GT:AD:DP:GL:GQ 0/1:13,34:30:-83.61,-9.04,-20.49:99 -chr1 2285789 . T C 107.62 SnpCluster AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=51.95;MQ=27.67;MQ0=1;QD=2.20;SB=-10.00 GT:AD:DP:GL:GQ 0/1:37,12:31:-23.38,-9.34,-102.78:99 -chr1 2285797 . C T 99.87 SnpCluster AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=37.97;MQ=27.29;MQ0=3;QD=1.72;SB=-6.99 GT:AD:DP:GL:GQ 0/1:46,12:38:-24.73,-11.46,-107.35:99 -chr1 2285798 rs6685453 A G 587.05 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=37.13;MQ=27.02;MQ0=4;QD=10.12;SB=-34.94 GT:AD:DP:GL:GQ 0/1:35,23:38:-73.44,-11.45,-64.40:99 -chr1 2285805 rs2840539 G A 1277.62 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=29.98;MQ=27.32;MQ0=3;QD=21.65;SB=-159.63 GT:AD:DP:GL:GQ 0/1:13,46:41:-143.39,-12.35,-21.42:90.69 -chr1 2285956 rs7539098 A T 36.30 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=32.84;MQ0=4;OQ=256.31;QD=4.93;SB=-97.36 GT:AD:DP:GL:GQ 0/1:30,22:31:-38.25,-9.34,-84.38:99 -chr1 2285957 rs7539099 A T 39.69 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=32.84;MQ0=4;OQ=262.32;QD=5.04;SB=-99.37 GT:AD:DP:GL:GQ 0/1:29,23:31:-38.85,-9.34,-83.38:99 -chr1 2286519 rs12029098 A G 0.14 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=10.29;MQ=20.58;MQ0=25;OQ=214.67;QD=3.41;SB=-10.00 GT:AD:DP:GL:GQ 0/1:52,10:32:-34.39,-9.64,-87.93:99 -chr1 2286535 rs10910056 C T 41.85 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=18.11;MQ0=29;OQ=264.94;QD=4.49;SB=-10.00 GT:AD:DP:GL:GQ 0/1:49,10:24:-37.01,-7.23,-58.35:99 -chr1 2286632 rs12062221 G A 163.59 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=18.73;MQ0=23;OQ=318.86;QD=6.13;SB=-122.97 GT:AD:DP:GL:GQ 0/1:37,15:21:-41.50,-6.33,-38.58:99 -chr1 2286682 rs10910057 T C 259.25 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=21.36;MQ0=18;OQ=880.98;QD=17.98;SB=-392.60 GT:AD:DP:GL:GQ 1/1:18,31:25:-91.69,-7.53,-0.01:75.23 -chr1 2287320 rs7366927 T C 67.59 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=20.66;MQ0=24;OQ=467.32;QD=6.97;SB=-192.02 GT:AD:DP:GL:GQ 0/1:40,27:33:-59.96,-9.95,-57.33:99 -chr1 2287795 rs10910058 A T 108.02 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.68;MQ0=0;OQ=672.40;QD=13.18;SB=-131.84 GT:AD:DP:GL:GQ 0/1:26,25:50:-85.58,-15.06,-97.61:99 -chr1 2287854 rs10910059 G C 295.33 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.70;MQ0=0;OQ=1098.70;QD=16.90;SB=-242.39 GT:AD:DP:GL:GQ 0/1:34,31:65:-132.74,-19.58,-150.89:99 -chr1 2288115 rs4648834 A G 229.51 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=58.69;MQ0=0;OQ=974.25;QD=11.88;SB=-367.23 GT:AD:DP:GL:GQ 0/1:45,37:80:-124.81,-24.10,-176.65:99 -chr1 2288354 rs55960350 C A 363.99 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=56.19;MQ0=0;OQ=926.53;QD=15.44;SB=-445.49 GT:AD:DP:GL:GQ 0/1:29,31:60:-114.01,-18.07,-107.19:99 -chr1 2288496 rs10453826 G A 57.25 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=3;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=1349.11;QD=17.75;SB=-668.70 GT:AD:DP:GL:GQ 0/1:36,39:75:-160.78,-22.59,-131.92:99 -chr1 2288624 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=61;Dels=0.02;HRun=18;HaplotypeScore=24.48;MQ=54.73;MQ0=1;OQ=401.02;QD=6.57;SB=-41.45 GT:AD:DP:GL:GQ 0/1:43,17:55:-59.67,-16.28,-122.97:99 -chr1 2288630 rs28792725 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.02;HRun=6;HaplotypeScore=25.44;MQ=54.48;MQ0=1;OQ=211.43;QD=3.92;SB=68.22 GT:AD:DP:GL:GQ 0/1:42,11:47:-38.29,-13.87,-121.95:99 -chr1 2288943 rs6704200 G A 186.62 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.03;MQ0=0;OQ=2659.42;QD=39.69;SB=-1189.57 GT:AD:DP:GL:GQ 1/1:0,67:67:-269.55,-20.19,-0.02:99 -chr1 2289098 rs12069579 C T 14.78 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=4;HaplotypeScore=1.46;MQ=57.20;MQ0=1;OQ=865.75;QD=14.43;SB=-343.49 GT:AD:DP:GL:GQ 0/1:32,28:57:-107.04,-17.18,-97.55:99 -chr1 2289170 rs12069588 C T 455.09 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.87;MQ0=0;OQ=1016.01;QD=15.88;SB=-357.83 GT:AD:DP:GL:GQ 0/1:33,31:64:-124.17,-19.28,-114.93:99 -chr1 2289171 rs12071572 A G 466.33 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.87;MQ0=0;OQ=819.05;QD=12.80;SB=-318.26 GT:AD:DP:GL:GQ 0/1:33,31:63:-104.18,-18.99,-126.28:99 -chr1 2289487 rs7545940 T C 276.29 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=1.92;MQ=59.67;MQ0=0;OQ=618.09;QD=11.04;SB=-316.36 GT:AD:DP:GL:GQ 0/1:32,24:55:-81.66,-16.57,-127.86:99 -chr1 2289511 rs2840538 T C 82.58 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=3.41;MQ=59.24;MQ0=0;OQ=1874.35;QD=34.08;SB=-939.34 GT:AD:DP:GL:GQ 1/1:0,55:54:-191.04,-16.27,-0.02:99 -chr1 2289772 rs7546224 T C 223.24 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=58.97;MQ0=0;OQ=650.32;QD=11.02;SB=-248.17 GT:AD:DP:GL:GQ 0/1:33,26:58:-85.80,-17.48,-124.44:99 -chr1 2290017 rs12070927 C A 51.76 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=3;HaplotypeScore=0.98;MQ=59.12;MQ0=0;OQ=1316.41;QD=19.08;SB=-657.73 GT:AD:DP:GL:GQ 0/1:26,43:67:-155.11,-20.18,-89.64:99 -chr1 2290238 rs7514750 G C 5.37 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=1.63;MQ=56.12;MQ0=0;OQ=999.16;QD=16.93;SB=-161.14 GT:AD:DP:GL:GQ 0/1:29,30:55:-119.78,-16.58,-120.03:99 -chr1 2290509 rs7542190 C T 358.30 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.38;MQ0=0;OQ=592.85;QD=11.62;SB=-156.20 GT:AD:DP:GL:GQ 0/1:31,20:49:-77.34,-14.77,-99.87:99 -chr1 2290635 rs7554609 A G 100.55 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.39;MQ=57.81;MQ0=0;OQ=439.50;QD=11.27;SB=-190.14 GT:AD:DP:GL:GQ 0/1:19,19:37:-60.47,-13.23,-75.89:99 -chr1 2290654 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=20;HaplotypeScore=28.09;MQ=53.25;MQ0=0;OQ=241.28;QD=4.02;SB=92.32 GT:AD:DP:GL:GQ 0/1:44,16:53:-43.38,-15.97,-152.46:99 -chr1 2290675 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=69;Dels=0.01;HRun=20;HaplotypeScore=29.22;MQ=49.62;MQ0=0;OQ=64.81;QD=0.94;SB=71.20 GT:AD:DP:GL:GQ 0/1:52,14:46:-23.33,-13.56,-132.10:97.65 -chr1 2291469 rs2840535 G T 504.16 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=896.75;QD=14.95;SB=-459.55 GT:AD:DP:GL:GQ 0/1:30,30:59:-110.74,-17.78,-88.69:99 -chr1 2291551 rs6665546 G A 392.04 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=60.00;MQ0=0;OQ=1434.00;QD=17.70;SB=-726.06 GT:AD:DP:GL:GQ 0/1:39,42:81:-171.09,-24.41,-128.82:99 -chr1 2292331 rs2453567 C T 202.13 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=54.48;MQ0=0;OQ=1114.28;QD=17.14;SB=-425.43 GT:AD:DP:GL:GQ 0/1:31,34:60:-132.80,-18.08,-88.05:99 -chr1 2292376 rs2453566 T C 254.25 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.09;MQ=52.46;MQ0=0;OQ=498.58;QD=10.18;SB=-208.48 GT:AD:DP:GL:GQ 0/1:22,27:40:-65.21,-12.06,-74.69:99 -chr1 2293426 rs2840534 A G 74.94 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=4.04;MQ=59.63;MQ0=0;OQ=998.53;QD=16.11;SB=-332.38 GT:AD:DP:GL:GQ 0/1:27,35:61:-121.51,-18.38,-106.86:99 -chr1 2297776 rs2843165 A C 120.65 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.92;MQ=60.00;MQ0=0;OQ=714.07;QD=14.28;SB=-105.81 GT:AD:DP:GL:GQ 0/1:23,27:49:-89.45,-14.76,-84.29:99 -chr1 2298377 rs2843162 C G 368.81 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=490.57;QD=15.82;SB=-257.11 GT:AD:DP:GL:GQ 0/1:17,14:31:-61.68,-9.34,-73.31:99 -chr1 2298942 rs2843160 T G 117.23 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=59.17;MQ0=0;OQ=634.08;QD=11.32;SB=-278.70 GT:AD:DP:GL:GQ 0/1:27,29:53:-82.67,-15.98,-90.35:99 -chr1 2302255 rs2643908 C T 314.36 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.96;MQ=59.55;MQ0=0;OQ=684.01;QD=13.41;SB=-309.40 GT:AD:DP:GL:GQ 0/1:26,25:46:-85.54,-13.86,-88.50:99 -chr1 2303400 rs2843132 A G 8.40 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=3.40;MQ=59.58;MQ0=0;OQ=438.03;QD=9.96;SB=-158.56 GT:AD:DP:GL:GQ 0/1:24,20:38:-58.54,-11.45,-84.41:99 -chr1 2304179 rs2643901 T C 196.35 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=59.45;MQ0=0;OQ=721.33;QD=17.17;SB=-281.01 GT:AD:DP:GL:GQ 0/1:15,26:39:-87.17,-11.75,-56.36:99 -chr1 2305298 rs2645060 G A 178.67 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=60.00;MQ0=0;OQ=1082.92;QD=18.05;SB=-486.00 GT:AD:DP:GL:GQ 0/1:25,35:57:-128.76,-17.18,-76.49:99 -chr1 2305540 rs2843128 A G 194.82 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=59.59;MQ0=0;OQ=482.38;QD=10.49;SB=-248.93 GT:AD:DP:GL:GQ 0/1:24,22:42:-64.18,-12.66,-86.34:99 -chr1 2305577 rs2843127 A G 547.43 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.15;MQ0=0;OQ=527.20;QD=11.98;SB=-284.59 GT:AD:DP:GL:GQ 0/1:25,19:44:-69.26,-13.26,-98.42:99 -chr1 2306175 rs2843126 A G 188.97 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.18;MQ=58.39;MQ0=0;OQ=344.67;QD=9.07;SB=-143.56 GT:AD:DP:GL:GQ 0/1:18,19:33:-47.70,-9.95,-71.62:99 -chr1 2306848 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=13;HaplotypeScore=4.17;MQ=55.00;MQ0=0;OQ=100.30;QD=4.18;SB=17.09 GT:AD:DP:GL:GQ 0/1:17,7:16:-18.14,-4.82,-46.21:99 -chr1 2309288 rs903903 A G 560.94 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1265.25;QD=17.33;SB=-657.78 GT:AD:DP:GL:GQ 0/1:28,45:70:-150.90,-21.10,-100.41:99 -chr1 2309390 rs2645061 G T 558.68 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=773.84;QD=12.28;SB=-380.71 GT:AD:DP:GL:GQ 0/1:36,27:63:-99.64,-18.97,-129.32:99 -chr1 2310428 . G A 99.95 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=70;Dels=0.04;HRun=15;HaplotypeScore=39.00;MQ=46.05;MQ0=0;QD=1.43;SB=52.68 GT:AD:DP:GL:GQ 0/1:53,14:55:-29.56,-16.28,-149.90:99 -chr1 2313868 rs2840533 C T 252.17 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.46;MQ=59.24;MQ0=0;OQ=794.28;QD=14.44;SB=-234.49 GT:AD:DP:GL:GQ 0/1:29,26:54:-98.98,-16.27,-105.03:99 -chr1 2314319 . A G 42.45 LowQual AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=50.37;MQ0=0;QD=0.63;SB=-7.70 GT:AD:DP:GL:GQ 0/1:58,9:63:-26.51,-18.98,-220.77:75.28 -chr1 2314326 . A G 0.25 PASS AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=50.58;MQ0=0;OQ=173.32;QD=2.44;SB=-79.68 GT:AD:DP:GL:GQ 0/1:59,12:69:-41.40,-20.79,-226.63:99 -chr1 2314333 rs41315342 C T 21.24 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.90;MQ=49.96;MQ0=0;OQ=309.71;QD=4.62;SB=-180.11 GT:AD:DP:GL:GQ 0/1:53,14:62:-52.95,-18.70,-157.19:99 -chr1 2315408 . G A 4.80 PASS AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=1;HaplotypeScore=3.55;MQ=59.13;MQ0=0;OQ=1258.74;QD=16.78;SB=-356.05 GT:AD:DP:GL:GQ 0/1:37,38:74:-151.46,-22.30,-126.73:99 -chr1 2315869 rs1123571 G A 390.91 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=58.65;MQ0=0;OQ=976.67;QD=13.95;SB=-457.41 GT:AD:DP:GL:GQ 0/1:38,32:64:-120.23,-19.28,-120.05:99 -chr1 2316672 rs903911 A G 4.65 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=4.83;MQ=58.81;MQ0=0;OQ=646.68;QD=16.58;SB=-230.30 GT:AD:DP:GL:GQ 0/1:16,22:38:-79.40,-11.45,-61.89:99 -chr1 2317675 rs2840532 C T 230.75 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=59.63;MQ0=0;OQ=2453.68;QD=38.95;SB=-993.83 GT:AD:DP:GL:GQ 1/1:0,63:62:-248.97,-18.68,-0.02:99 -chr1 2318574 rs2645081 A G 8.21 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=6.83;MQ=58.95;MQ0=0;OQ=2467.67;QD=30.85;SB=-995.94 GT:AD:DP:GL:GQ 1/1:0,79:71:-250.38,-21.39,-0.03:99 -chr1 2319521 rs6698680 A G 273.51 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=59.27;MQ0=0;OQ=618.22;QD=12.12;SB=-195.44 GT:AD:DP:GL:GQ 0/1:27,24:49:-79.88,-14.77,-98.83:99 -chr1 2319668 rs3001344 A G 117.65 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=59.27;MQ0=0;OQ=3223.06;QD=35.42;SB=-1436.46 GT:AD:DP:GL:GQ 1/1:0,91:90:-325.91,-27.11,-0.03:99 -chr1 2319862 rs6698978 A G 270.88 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=53.38;MQ0=0;OQ=935.78;QD=15.60;SB=-478.67 GT:AD:DP:GL:GQ 0/1:27,33:58:-114.34,-17.47,-100.10:99 -chr1 2319876 rs6685829 C T 18.19 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=6.10;MQ=50.59;MQ0=0;OQ=722.12;QD=12.24;SB=-192.86 GT:AD:DP:GL:GQ 0/1:35,24:57:-92.67,-17.18,-109.45:99 -chr1 2320050 rs6693447 T G 274.62 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=59.41;MQ0=0;OQ=1099.08;QD=15.48;SB=-483.82 GT:AD:DP:GL:GQ 0/1:33,38:70:-134.27,-21.08,-119.27:99 -chr1 2321898 rs55912310 A G 16.38 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=2;HaplotypeScore=6.30;MQ=59.22;MQ0=0;OQ=1063.46;QD=13.63;SB=-443.56 GT:AD:DP:GL:GQ 0/1:40,38:76:-132.53,-22.90,-155.79:99 -chr1 2322251 rs12037485 C T 255.22 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.77;MQ=54.76;MQ0=0;OQ=603.45;QD=12.57;SB=-317.81 GT:AD:DP:GL:GQ 0/1:27,21:45:-77.19,-13.56,-84.03:99 -chr1 2322525 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=3;HaplotypeScore=18.90;MQ=37.53;MQ0=0;OQ=105.39;QD=3.90;SB=-31.65 GT:AD:DP:GL:GQ 0/1:20,7:25:-21.36,-7.54,-75.64:99 -chr1 2322526 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=1;HaplotypeScore=17.62;MQ=38.02;MQ0=0;OQ=76.24;QD=2.63;SB=-0.98 GT:AD:DP:GL:GQ 0/1:23,6:24:-18.14,-7.23,-69.35:99 -chr1 2322566 . C T 184.67 Indel AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=0;HaplotypeScore=7.93;MQ=44.33;MQ0=0;QD=9.72;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,7:16:-26.58,-4.82,-31.47:99 -chr1 2322586 . T C 43.94 LowQual AC=1;AF=0.50;AN=2;DP=13;Dels=0.00;HRun=2;HaplotypeScore=6.02;MQ=50.39;MQ0=0;QD=3.38;SB=-10.00 GT:AD:DP:GL:GQ 0/1:9,4:11:-10.99,-3.32,-30.04:76.77 -chr1 2322650 . T C 18.09 LowQual AC=1;AF=0.50;AN=2;DP=6;Dels=0.00;HRun=2;HaplotypeScore=5.99;MQ=43.00;MQ0=0;QD=3.01;SB=-3.98 GT:AD:DP:GL:GQ 0/1:4,2:6:-6.89,-1.81,-15.35:50.86 -chr1 2322668 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=1;HaplotypeScore=16.47;MQ=36.20;MQ0=0;OQ=99.28;QD=6.62;SB=-3.98 GT:AD:DP:GL:GQ 0/1:11,4:11:-16.52,-3.31,-24.94:99 -chr1 2322705 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=1;HaplotypeScore=18.95;MQ=39.10;MQ0=0;OQ=127.82;QD=7.99;SB=-6.99 GT:AD:DP:GL:GQ 0/1:11,5:12:-19.68,-3.62,-24.01:99 -chr1 2322711 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=2;HaplotypeScore=13.96;MQ=44.08;MQ0=0;OQ=161.06;QD=8.05;SB=-38.94 GT:AD:DP:GL:GQ 0/1:13,7:16:-24.21,-4.82,-34.51:99 -chr1 2322848 rs3001337 T C 21.54 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.78;MQ0=0;OQ=436.82;QD=19.86;SB=-71.91 GT:AD:DP:GL:GQ 1/1:0,22:15:-47.28,-4.52,-0.02:45.08 -chr1 2322891 rs3001336 G A 52.42 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.61;MQ=57.77;MQ0=0;OQ=1380.55;QD=34.51;SB=-210.77 GT:AD:DP:GL:GQ 1/1:0,39:36:-141.66,-10.85,-0.02:99 -chr1 2324121 . G T 2.67 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=60.00;MQ0=0;OQ=1012.17;QD=19.85;SB=-217.60 GT:AD:DP:GL:GQ 0/1:19,32:51:-119.87,-15.37,-54.76:99 -chr1 2324716 rs41315648 C T 55.76 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=58.50;MQ0=0;OQ=419.39;QD=13.53;SB=-59.02 GT:AD:DP:GL:GQ 0/1:17,14:29:-53.97,-8.74,-50.19:99 -chr1 2325536 rs1129333 A G 283.63 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.63;MQ0=0;OQ=1733.67;QD=33.99;SB=-802.65 GT:AD:DP:GL:GQ 1/1:0,51:50:-176.97,-15.06,-0.02:99 -chr1 2327137 rs11586985 C T 102.53 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=60.00;MQ0=0;OQ=429.81;QD=12.28;SB=-139.15 GT:AD:DP:GL:GQ 0/1:21,14:35:-56.82,-10.56,-64.66:99 -chr1 2327397 rs2494426 C G 233.81 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=927.58;QD=37.10;SB=-342.73 GT:AD:DP:GL:GQ 1/1:0,25:23:-96.36,-6.94,-0.02:69.23 -chr1 2327420 rs55746053 G A 222.42 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.19;MQ0=0;OQ=251.55;QD=10.94;SB=-144.16 GT:AD:DP:GL:GQ 0/1:13,10:21:-34.77,-6.33,-37.00:99 -chr1 2327986 rs3795269 C A 81.57 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=3.48;MQ=59.11;MQ0=0;OQ=721.54;QD=13.88;SB=-337.19 GT:AD:DP:GL:GQ 0/1:25,27:47:-89.60,-14.16,-76.64:99 -chr1 2328429 rs2494427 T C 699.34 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.11;MQ0=0;OQ=1614.58;QD=34.35;SB=-832.33 GT:AD:DP:GL:GQ 1/1:0,47:46:-165.06,-13.86,-0.02:99 -chr1 2328739 rs6671420 G A 245.45 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.24;MQ=58.64;MQ0=0;OQ=433.47;QD=13.98;SB=-240.76 GT:AD:DP:GL:GQ 0/1:16,15:30:-55.68,-9.05,-50.08:99 -chr1 2328934 rs2494428 C T 252.86 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=60.00;MQ0=0;OQ=2537.82;QD=38.45;SB=-908.73 GT:AD:DP:GL:GQ 1/1:0,66:65:-257.39,-19.59,-0.03:99 -chr1 2328975 rs2494599 T C 150.34 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=60.00;MQ0=0;OQ=1601.93;QD=34.08;SB=-647.90 GT:AD:DP:GL:GQ 1/1:0,47:46:-163.80,-13.86,-0.02:99 -chr1 2328999 rs6671730 G A 141.04 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=617.02;QD=15.43;SB=-196.85 GT:AD:DP:GL:GQ 0/1:20,20:39:-76.74,-11.75,-69.55:99 -chr1 2329255 rs2494429 A G 318.55 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.40;MQ0=0;OQ=347.51;QD=11.21;SB=-114.76 GT:AD:DP:GL:GQ 0/1:16,15:29:-46.78,-8.74,-56.84:99 -chr1 2329287 rs4648634 C T 185.49 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.86;MQ=59.06;MQ0=0;OQ=270.55;QD=13.53;SB=-158.18 GT:AD:DP:GL:GQ 0/1:11,9:17:-35.47,-5.13,-24.67:99 -chr1 2329933 . C G 22.59 PASS AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=4.69;MQ=58.67;MQ0=0;OQ=614.01;QD=12.53;SB=-287.97 GT:AD:DP:GL:GQ 0/1:22,27:40:-76.76,-12.08,-83.82:99 -chr1 2330060 rs2494598 T C 290.44 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.12;MQ=58.95;MQ0=0;OQ=481.10;QD=12.03;SB=-246.32 GT:AD:DP:GL:GQ 0/1:19,21:39:-63.16,-11.76,-72.17:99 -chr1 2332427 . C T 0.21 PASS AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=10.66;MQ=58.03;MQ0=0;OQ=1034.47;QD=16.96;SB=-503.70 GT:AD:DP:GL:GQ 0/1:28,33:58:-124.21,-17.48,-97.70:99 -chr1 2333054 rs2494597 T C 55.95 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.08;MQ=59.48;MQ0=0;OQ=1376.62;QD=31.29;SB=-454.42 GT:AD:DP:GL:GQ 1/1:0,44:41:-141.27,-12.35,-0.02:99 -chr1 2334551 rs2494595 A G 104.16 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=58.99;MQ0=0;OQ=304.12;QD=13.22;SB=-164.34 GT:AD:DP:GL:GQ 0/1:12,11:22:-40.32,-6.63,-44.91:99 -chr1 2334785 rs9424320 T C 95.96 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=59.20;MQ0=0;OQ=385.94;QD=13.31;SB=-75.78 GT:AD:DP:GL:GQ 0/1:11,17:25:-49.42,-7.54,-38.41:99 -chr1 2335959 rs7556447 C G 349.75 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=56.82;MQ0=0;OQ=713.10;QD=13.71;SB=-329.23 GT:AD:DP:GL:GQ 0/1:30,22:47:-88.76,-14.16,-115.39:99 -chr1 2336342 rs4648839 T C 24.11 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=49.60;MQ0=0;OQ=479.90;QD=20.87;SB=-161.36 GT:AD:DP:GL:GQ 1/1:1,22:17:-51.60,-5.13,-0.02:51.09 -chr1 2336383 rs10910065 G C 120.25 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=52.63;MQ0=0;OQ=649.76;QD=18.05;SB=-286.56 GT:AD:DP:GL:GQ 0/1:17,19:34:-78.51,-10.25,-66.28:99 -chr1 2336384 rs10910066 T C 189.89 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=52.63;MQ0=0;OQ=539.82;QD=14.99;SB=-236.31 GT:AD:DP:GL:GQ 0/1:17,19:36:-68.12,-10.85,-65.37:99 -chr1 2336612 . G A 111.33 PASS AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=53.01;MQ0=0;OQ=620.89;QD=13.80;SB=-302.81 GT:AD:DP:GL:GQ 0/1:24,21:40:-77.43,-12.05,-71.03:99 -chr1 2337326 rs12746918 C T 6.83 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=7.69;MQ=54.86;MQ0=0;OQ=484.18;QD=9.68;SB=-259.25 GT:AD:DP:GL:GQ 0/1:29,21:42:-64.36,-12.66,-87.95:99 -chr1 2337359 . C T 7.61 PASS AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=4.85;MQ=55.32;MQ0=0;OQ=435.73;QD=9.68;SB=-169.11 GT:AD:DP:GL:GQ 0/1:27,17:41:-59.22,-12.37,-82.09:99 -chr1 2337436 . G T 34.30 PASS AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=57.73;MQ0=0;OQ=368.11;QD=11.87;SB=-146.62 GT:AD:DP:GL:GQ 0/1:16,15:30:-49.13,-9.04,-55.91:99 -chr1 2337592 rs12184328 G A 0.69 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=8.46;MQ=57.94;MQ0=0;OQ=510.09;QD=15.00;SB=-111.95 GT:AD:DP:GL:GQ 0/1:17,16:33:-64.24,-9.94,-57.68:99 -chr1 2337900 rs10910068 T C 14.61 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=3;HaplotypeScore=1.32;MQ=56.47;MQ0=0;OQ=310.27;QD=9.13;SB=-165.49 GT:AD:DP:GL:GQ 0/1:15,19:29:-43.06,-8.75,-59.62:99 -chr1 2339629 rs2494432 G A 402.74 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.15;MQ0=0;OQ=824.63;QD=16.83;SB=-334.87 GT:AD:DP:GL:GQ 0/1:23,26:44:-99.01,-13.26,-63.50:99 -chr1 2339896 . C T 167.28 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=60.00;MQ0=0;OQ=715.32;QD=13.50;SB=-333.31 GT:AD:DP:GL:GQ 0/1:31,22:52:-90.49,-15.68,-97.09:99 -chr1 2340772 rs10910070 G A 197.79 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=60.00;MQ0=0;OQ=631.24;QD=14.35;SB=-260.25 GT:AD:DP:GL:GQ 0/1:23,21:43:-79.37,-12.96,-74.56:99 -chr1 2340956 rs11577147 A G 10.98 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=289.51;QD=8.77;SB=-78.79 GT:AD:DP:GL:GQ 0/1:19,14:32:-41.88,-9.65,-72.03:99 -chr1 2341435 rs11590507 G A 0.61 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=5.72;MQ=57.66;MQ0=0;OQ=472.75;QD=15.76;SB=-44.54 GT:AD:DP:GL:GQ 0/1:14,15:29:-59.30,-8.74,-51.63:99 -chr1 2341559 rs3935659 T C 7.79 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=2;HaplotypeScore=3.23;MQ=59.25;MQ0=0;OQ=287.36;QD=11.49;SB=-29.91 GT:AD:DP:GL:GQ 0/1:13,12:25:-39.55,-7.53,-50.79:99 -chr1 2341739 rs3935660 C T 165.26 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=58.09;MQ0=0;OQ=670.17;QD=13.68;SB=-195.21 GT:AD:DP:GL:GQ 0/1:27,21:42:-82.97,-12.67,-64.00:99 -chr1 2342006 rs12731309 C T 203.63 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.33;MQ=58.88;MQ0=0;OQ=846.80;QD=15.68;SB=-399.13 GT:AD:DP:GL:GQ 0/1:28,26:51:-103.32,-15.36,-93.02:99 -chr1 2342252 . A T 13.40 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=20.03;MQ=56.40;MQ0=0;QD=0.29;SB=20.83 GT:AD:DP:GL:GQ 0/1:37,6:32:-14.24,-9.64,-106.31:46.04 -chr1 2342253 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=16;HaplotypeScore=7.92;MQ=56.40;MQ0=0;OQ=132.41;QD=2.82;SB=14.63 GT:AD:DP:GL:GQ 0/1:39,8:37:-27.67,-11.15,-101.20:99 -chr1 2342945 rs10910071 A G 300.82 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=58.83;MQ0=0;OQ=1016.43;QD=13.20;SB=-494.01 GT:AD:DP:GL:GQ 0/1:41,36:76:-127.82,-22.90,-155.86:99 -chr1 2343155 rs12143389 C T 127 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=2.76;MQ=58.70;MQ0=1;OQ=925.95;QD=15.69;SB=-402.44 GT:AD:DP:GL:GQ 0/1:31,28:58:-113.35,-17.47,-107.32:99 -chr1 2343729 rs35799953 G T 69.33 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=59.02;MQ0=0;OQ=852.19;QD=13.75;SB=-419.16 GT:AD:DP:GL:GQ 0/1:33,29:62:-107.18,-18.68,-104.15:99 -chr1 2343876 rs34574702 C T 503.31 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.74;MQ0=0;OQ=1119.07;QD=15.54;SB=-507.56 GT:AD:DP:GL:GQ 0/1:37,35:71:-136.60,-21.41,-114.39:99 -chr1 2344230 rs12022832 T C 209.47 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=1.97;MQ=58.42;MQ0=0;OQ=1122.84;QD=12.62;SB=-438.76 GT:AD:DP:GL:GQ 0/1:44,45:86:-141.48,-25.92,-179.52:99 -chr1 2344260 rs12096965 C T 229.98 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=58.88;MQ0=0;OQ=1606.93;QD=18.26;SB=-801.37 GT:AD:DP:GL:GQ 0/1:41,47:83:-188.99,-25.01,-117.57:99 -chr1 2344423 rs12097032 C T 484.25 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.75;MQ0=0;OQ=986.20;QD=13.33;SB=-465.97 GT:AD:DP:GL:GQ 0/1:43,31:74:-124.19,-22.29,-159.47:99 -chr1 2344746 rs10797421 G A 65.48 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.32;MQ0=1;OQ=3166.01;QD=39.09;SB=-1482.03 GT:AD:DP:GL:GQ 1/1:0,81:79:-320.20,-23.80,-0.02:99 -chr1 2345260 . A G 75.95 PASS AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=59.23;MQ0=0;OQ=680.86;QD=11.35;SB=-282.57 GT:AD:DP:GL:GQ 0/1:36,24:58:-88.84,-17.47,-139.70:99 -chr1 2346437 rs4648840 A G 47.43 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=56.94;MQ0=0;OQ=537.49;QD=18.53;SB=-194.00 GT:AD:DP:GL:GQ 0/1:11,18:29:-65.77,-8.74,-43.90:99 -chr1 2346772 rs2494433 G A 58.11 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=3.58;MQ=56.91;MQ0=0;OQ=1163.67;QD=17.63;SB=-493.51 GT:AD:DP:GL:GQ 0/1:29,36:61:-138.03,-18.37,-99.55:99 -chr1 2347335 rs2494434 T C 559.97 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.75;MQ0=0;OQ=1472.38;QD=29.45;SB=-544.87 GT:AD:DP:GL:GQ 1/1:0,50:48:-150.87,-14.48,-0.05:99 -chr1 2347933 rs2494588 C T 188.87 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=57.48;MQ0=0;OQ=702.34;QD=16.33;SB=-327.35 GT:AD:DP:GL:GQ 0/1:19,24:41:-85.88,-12.36,-61.93:99 -chr1 2348381 rs55852252 G A 9.22 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=6.28;MQ=58.74;MQ0=0;OQ=406.10;QD=10.98;SB=-128.60 GT:AD:DP:GL:GQ 0/1:20,16:33:-53.85,-9.96,-60.26:99 -chr1 2348618 rs2494587 C T 128.74 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=58.45;MQ0=0;OQ=376.88;QD=12.56;SB=-173.14 GT:AD:DP:GL:GQ 0/1:17,13:28:-49.41,-8.44,-50.72:99 -chr1 2348708 rs12116913 G C 294.62 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.74;MQ0=0;OQ=640.63;QD=17.31;SB=-259.09 GT:AD:DP:GL:GQ 0/1:14,23:34:-77.61,-10.26,-60.10:99 -chr1 2349777 rs2494436 T C 163.31 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=59.34;MQ0=0;OQ=309.46;QD=8.84;SB=-92.69 GT:AD:DP:GL:GQ 0/1:19,16:32:-43.87,-9.64,-70.50:99 -chr1 2349800 rs7515934 C T 251.15 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=58.83;MQ0=0;OQ=424.25;QD=11.78;SB=-175.26 GT:AD:DP:GL:GQ 0/1:19,17:28:-54.15,-8.45,-42.69:99 -chr1 2350992 rs10910075 C T 473.62 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.99;MQ0=0;OQ=647.50;QD=14.08;SB=-334.47 GT:AD:DP:GL:GQ 0/1:24,22:45:-81.60,-13.57,-79.99:99 -chr1 2351241 . T G 21.83 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=2;HaplotypeScore=2.69;MQ=59.58;MQ0=0;QD=0.40;SB=68.21 GT:AD:DP:GL:GQ 0/1:36,19:40:-17.52,-12.05,-117.29:54.64 -chr1 2351880 rs4531246 G T 25.70 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=6.77;MQ=57.66;MQ0=0;OQ=504.52;QD=12.61;SB=-172.18 GT:AD:DP:GL:GQ 0/1:16,23:33:-63.68,-9.95,-50.73:99 -chr1 2352624 rs10797424 A T 924.88 Indel AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=6.64;MQ=59.45;MQ0=0;QD=16.52;SB=-353.59 GT:AD:DP:GL:GQ 0/1:25,31:52:-111.44,-15.67,-81.17:99 -chr1 2352687 rs2494641 C T 290.78 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=59.48;MQ0=0;OQ=558.90;QD=11.89;SB=-269.24 GT:AD:DP:GL:GQ 0/1:28,19:43:-72.14,-12.96,-80.82:99 -chr1 2353187 rs2494640 G C 26.97 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=4.41;MQ=59.56;MQ0=0;OQ=532.94;QD=10.25;SB=-240.06 GT:AD:DP:GL:GQ 0/1:33,18:51:-71.97,-15.39,-132.20:99 -chr1 2361858 rs12756220 T C 1.74 PASS AC=1;AF=0.50;AN=2;DB;DP=140;Dels=0.00;HRun=2;HaplotypeScore=7.14;MQ=34.26;MQ0=3;OQ=1721.38;QD=12.30;SB=-137.87 GT:AD:DP:GL:GQ 0/1:41,97:98:-204.99,-29.57,-118.98:99 -chr1 2361893 rs34648463 T G 24.56 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=3.90;MQ=42.90;MQ0=5;OQ=1167.25;QD=12.83;SB=-195.79 GT:AD:DP:GL:GQ 0/1:32,58:69:-140.80,-20.79,-99.18:99 -chr1 2361936 rs28669301 A C 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=2;HaplotypeScore=18.37;MQ=47.88;MQ0=0;OQ=797.11;QD=9.96;SB=-212.34 GT:AD:DP:GL:GQ 0/1:30,48:65:-102.59,-19.60,-99.90:99 -chr1 2361993 rs2494638 G C 0.10 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=2;HaplotypeScore=3.02;MQ=48.10;MQ0=3;OQ=294.71;QD=3.68;SB=53.21 GT:AD:DP:GL:GQ 0/1:57,23:60:-50.84,-18.09,-206.36:99 -chr1 2363043 . G A 28.79 PASS AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=1;HaplotypeScore=1.42;MQ=59.14;MQ0=0;OQ=346.36;QD=12.83;SB=-157.68 GT:AD:DP:GL:GQ 0/1:14,13:24:-45.16,-7.24,-42.35:99 -chr1 2380627 . C G 34.70 LowQual AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=57.50;MQ0=0;QD=0.48;SB=-30.39 GT:AD:DP:GL:GQ 0/1:66,6:63:-25.74,-18.99,-243.93:67.54 -chr1 2380700 rs28508164 T C 2.51 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.08;MQ0=1;OQ=73.76;QD=1.76;SB=-56.90 GT:AD:DP:GL:GQ 0/1:36,6:33:-20.60,-9.94,-107.88:99 -chr1 2380723 . G C 46.32 LowQual AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=2;HaplotypeScore=2.29;MQ=49.69;MQ0=1;QD=2.72;SB=-23.39 GT:AD:DP:GL:GQ 0/1:12,5:11:-11.23,-3.32,-34.81:79.16 -chr1 2380725 . C T 43.06 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=4.03;MQ=49.69;MQ0=1;QD=2.53;SB=5.04 GT:AD:DP:GL:GQ 0/1:12,5:11:-10.90,-3.32,-27.83:75.90 -chr1 2380739 . G C 31.92 LowQual AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=2;HaplotypeScore=1.16;MQ=44.53;MQ0=1;QD=1.88;SB=-3.98 GT:AD:DP:GL:GQ 0/1:10,7:9:-9.19,-2.71,-29.02:64.75 -chr1 2380741 . C T 23.47 LowQual AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=43.38;MQ0=1;QD=1.47;SB=-3.99 GT:AD:DP:GL:GQ 0/1:10,6:8:-8.04,-2.42,-18.12:56.29 -chr1 2380787 . C G 11.87 PASS AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=41.08;MQ0=2;OQ=228.10;QD=9.12;SB=-107.32 GT:AD:DP:GL:GQ 0/1:13,12:14:-30.31,-4.22,-31.36:99 -chr1 2380789 . T C 0.06 PASS AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=2;HaplotypeScore=3.66;MQ=41.08;MQ0=2;OQ=146.59;QD=5.86;SB=-69.76 GT:AD:DP:GL:GQ 0/1:13,12:14:-22.16,-4.22,-27.36:99 -chr1 2380812 . C T 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=33;Dels=0.00;HRun=1;HaplotypeScore=13.92;MQ=46.38;MQ0=1;OQ=329.40;QD=9.98;SB=-91.91 GT:AD:DP:GL:GQ 0/1:15,18:19:-41.95,-5.73,-28.82:99 -chr1 2380819 . C G 37.83 LowQual AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=9.81;MQ=46.57;MQ0=1;QD=1.08;SB=-27.83 GT:AD:DP:GL:GQ 0/1:27,8:18:-12.49,-5.42,-65.92:70.67 -chr1 2382567 . A G 10.80 PASS AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.42;MQ0=0;OQ=573.70;QD=14.34;SB=-186.56 GT:AD:DP:GL:GQ 0/1:16,24:36:-71.50,-10.85,-55.65:99 -chr1 2390539 rs56368227 C T 147.22 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.76;MQ=58.63;MQ0=0;OQ=772.55;QD=15.15;SB=-231.31 GT:AD:DP:GL:GQ 0/1:25,25:47:-96.89,-16.35,-71.90:99 -chr1 2391510 rs942818 T C 169.46 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=58.03;MQ0=0;OQ=1503.43;QD=30.07;SB=-692.23 GT:AD:DP:GL:GQ 1/1:0,50:44:-153.95,-13.26,-0.02:99 -chr1 2393714 rs10910080 G A 120.05 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=2.52;MQ=58.38;MQ0=0;OQ=343.05;QD=13.19;SB=-140.60 GT:AD:DP:GL:GQ 0/1:13,13:24:-44.83,-7.24,-36.59:99 -chr1 2394116 rs2494626 C T 263.72 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.65;MQ=58.95;MQ0=0;OQ=492.85;QD=12.32;SB=-207.19 GT:AD:DP:GL:GQ 0/1:23,17:37:-63.72,-11.16,-67.50:99 -chr1 2398521 rs1536155 A G 7.46 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=3;HaplotypeScore=2.26;MQ=58.44;MQ0=0;OQ=280.60;QD=10.39;SB=-38.80 GT:AD:DP:GL:GQ 0/1:14,13:25:-38.88,-7.54,-51.71:99 -chr1 2399136 rs12049628 A G 275.01 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=58.16;MQ0=0;OQ=457.42;QD=9.94;SB=-243.30 GT:AD:DP:GL:GQ 0/1:24,22:43:-61.98,-12.96,-96.02:99 -chr1 2399220 rs59417818 G A 58.40 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=60.00;MQ0=0;OQ=406.26;QD=15.63;SB=-103.61 GT:AD:DP:GL:GQ 0/1:12,13:24:-51.14,-7.23,-38.48:99 -chr1 2399752 rs12727342 A G 0.92 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=4.77;MQ=57.40;MQ0=0;OQ=225.70;QD=6.10;SB=-108.60 GT:AD:DP:GL:GQ 0/1:20,17:31:-35.20,-9.35,-75.95:99 -chr1 2399993 . G C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=1;HaplotypeScore=4.11;MQ=57.31;MQ0=0;OQ=125.38;QD=3.58;SB=53.21 GT:AD:DP:GL:GQ 0/1:25,10:27:-23.96,-8.14,-94.75:99 -chr1 2400649 rs11799501 C T 116.65 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=4.89;MQ=60.00;MQ0=0;OQ=748.36;QD=14.39;SB=-393.78 GT:AD:DP:GL:GQ 0/1:28,24:51:-93.50,-15.38,-86.98:99 -chr1 2401311 rs10797428 A G 76.46 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=3;HaplotypeScore=1.05;MQ=59.53;MQ0=0;OQ=638.41;QD=15.96;SB=-314.23 GT:AD:DP:GL:GQ 0/1:15,25:38:-78.58,-11.46,-54.60:99 -chr1 2402139 rs4648638 A T 283.51 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.43;MQ0=0;OQ=382.69;QD=11.60;SB=-121.80 GT:AD:DP:GL:GQ 0/1:19,14:31:-50.89,-9.34,-63.99:99 -chr1 2403494 rs942817 G C 329.65 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=58.68;MQ0=0;OQ=865.92;QD=18.82;SB=-441.92 GT:AD:DP:GL:GQ 0/1:21,25:43:-102.83,-12.96,-79.86:99 -chr1 2404788 rs4995304 G A 54.16 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=55.45;MQ0=0;OQ=801.00;QD=19.54;SB=-282.18 GT:AD:DP:GL:GQ 0/1:16,24:39:-95.13,-11.75,-53.28:99 -chr1 2405062 . T G 6.04 PASS AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=55.86;MQ0=0;OQ=164.49;QD=7.15;SB=2.04 GT:AD:DP:GL:GQ 0/1:15,8:23:-26.66,-6.93,-55.71:99 -chr1 2405078 . C T 5.98 PASS AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=52.76;MQ0=0;OQ=151.99;QD=6.61;SB=-0.99 GT:AD:DP:GL:GQ 0/1:16,7:20:-24.51,-6.03,-50.27:99 -chr1 2405106 . G T 34.21 LowQual AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=1;HaplotypeScore=4.38;MQ=49.04;MQ0=0;QD=1.63;SB=-10.00 GT:AD:DP:GL:GQ 0/1:16,5:14:-10.92,-4.22,-37.23:67.05 -chr1 2405179 . T G 0.09 PASS AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=3;HaplotypeScore=3.52;MQ=52.14;MQ0=0;OQ=147.78;QD=8.21;SB=-98.66 GT:AD:DP:GL:GQ 0/1:11,7:13:-21.98,-3.92,-24.09:99 -chr1 2405189 . T C 0.04 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;HRun=3;HaplotypeScore=5.56;MQ=47.05;MQ0=0;OQ=344.28;QD=18.12;SB=-173.40 GT:AD:DP:GL:GQ 1/1:0,19:11:-38.02,-3.32,-0.01:33.08 -chr1 2405210 . C A 0.76 PASS AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=39.01;MQ0=0;OQ=86.77;QD=6.20;SB=-60.75 GT:AD:DP:GL:GQ 0/1:10,4:8:-14.37,-2.41,-11.67:92.61 -chr1 2405220 . G C 0.99 PASS AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=2.07;MQ=39.01;MQ0=0;OQ=62.38;QD=4.46;SB=-40.43 GT:AD:DP:GL:GQ 0/1:10,4:7:-11.64,-2.12,-15.93:95.21 -chr1 2405254 . T C 25.50 LowQual AC=1;AF=0.50;AN=2;DP=7;Dels=0.00;HRun=3;HaplotypeScore=1.85;MQ=37.93;MQ0=1;QD=3.64;SB=-6.99 GT:AD:DP:GL:GQ 0/1:3,4:4:-7.04,-1.21,-6.92:57.17 -chr1 2405275 . C A 10.07 PASS AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;HRun=1;HaplotypeScore=2.14;MQ=32.15;MQ0=1;OQ=98.76;QD=10.97;SB=-39.94 GT:AD:DP:GL:GQ 1/1:5,4:4:-13.41,-1.21,-0.00:12.03 -chr1 2405285 . G C 5.32 PASS AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=37.51;MQ0=1;OQ=185.89;QD=12.39;SB=-10.00 GT:AD:DP:GL:GQ 0/1:8,7:7:-23.98,-2.11,-4.50:23.85 -chr1 2405307 . G C 0.94 PASS AC=1;AF=0.50;AN=2;DP=13;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=44.11;MQ0=0;OQ=225.33;QD=17.33;SB=-6.99 GT:AD:DP:GL:GQ 0/1:5,8:9:-28.53,-2.71,-8.94:62.30 -chr1 2405357 rs61763948 T C 6.42 PASS AC=1;AF=0.50;AN=2;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=1.39;MQ=58.63;MQ0=0;OQ=296.15;QD=17.42;SB=-3.98 GT:AD:DP:GL:GQ 0/1:4,13:16:-37.72,-4.82,-15.46:99 -chr1 2406217 rs4648639 G A 225.22 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=51.38;MQ0=0;OQ=834.51;QD=18.14;SB=-265.24 GT:AD:DP:GL:GQ 0/1:20,26:45:-100.29,-13.55,-72.00:99 -chr1 2407818 rs4648640 G A 162.08 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=1.42;MQ=59.09;MQ0=0;OQ=709.86;QD=15.43;SB=-272.15 GT:AD:DP:GL:GQ 0/1:23,23:44:-87.53,-13.26,-76.87:99 -chr1 2408795 rs10910082 C T 122.37 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=59.49;MQ0=0;OQ=319.86;QD=7.11;SB=-107.45 GT:AD:DP:GL:GQ 0/1:33,12:44:-48.52,-13.25,-117.65:99 -chr1 2410450 rs10752744 T C 140.49 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=1.65;MQ=60.00;MQ0=0;OQ=499.26;QD=10.62;SB=-158.91 GT:AD:DP:GL:GQ 0/1:28,19:47:-67.37,-14.16,-113.54:99 -chr1 2410773 rs6668720 A G 120.35 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=58.84;MQ0=0;OQ=320.90;QD=8.02;SB=-52.83 GT:AD:DP:GL:GQ 0/1:24,16:36:-46.22,-10.85,-86.61:99 -chr1 2412474 rs2477699 G A 360.42 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=58.60;MQ0=0;OQ=676.25;QD=13.52;SB=-318.34 GT:AD:DP:GL:GQ 0/1:25,25:46:-84.77,-13.86,-87.14:99 -chr1 2413426 rs3001349 C G 122.02 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=59.07;MQ0=0;OQ=984.04;QD=19.68;SB=-507.27 GT:AD:DP:GL:GQ 0/1:22,28:50:-116.76,-15.07,-93.45:99 -chr1 2414277 rs2477701 T C 471.99 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.44;MQ0=0;OQ=1313.31;QD=32.03;SB=-482.12 GT:AD:DP:GL:GQ 1/1:0,41:41:-134.95,-12.36,-0.03:99 -chr1 2414754 rs2477702 T C 257.38 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=58.58;MQ0=0;OQ=407.32;QD=11.31;SB=-181.54 GT:AD:DP:GL:GQ 0/1:18,17:33:-53.96,-9.95,-62.99:99 -chr1 2415234 . G A 52.54 PASS AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=3.50;MQ=58.25;MQ0=0;OQ=558.86;QD=13.97;SB=-294.85 GT:AD:DP:GL:GQ 0/1:20,20:36:-70.03,-10.86,-54.36:99 -chr1 2415852 rs2477703 C T 47.65 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=7.69;MQ=58.80;MQ0=0;OQ=763.15;QD=13.16;SB=-352.50 GT:AD:DP:GL:GQ 0/1:34,24:57:-96.78,-17.18,-104.35:99 -chr1 2416626 rs3001347 A G 166.06 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=58.74;MQ0=0;OQ=303.26;QD=8.20;SB=-170.50 GT:AD:DP:GL:GQ 0/1:20,17:33:-43.56,-9.95,-71.18:99 -chr1 2417572 rs3762444 C T 276.23 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=60.00;MQ0=0;OQ=447.88;QD=14.93;SB=-199.90 GT:AD:DP:GL:GQ 0/1:15,15:29:-56.82,-8.74,-44.39:99 -chr1 2418734 rs2477706 T C 40.91 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=58.67;MQ0=0;OQ=224.99;QD=6.43;SB=-131.52 GT:AD:DP:GL:GQ 0/1:20,15:30:-34.83,-9.05,-71.11:99 -chr1 2422191 rs4648641 C A 142.70 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.65;MQ0=0;OQ=139.36;QD=6.33;SB=-88.78 GT:AD:DP:GL:GQ 0/1:13,9:20:-23.25,-6.03,-44.88:99 -chr1 2422622 rs4648642 G A 142.31 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=59.39;MQ0=0;OQ=411.20;QD=10.82;SB=-172.27 GT:AD:DP:GL:GQ 0/1:23,15:36:-55.26,-10.86,-70.83:99 -chr1 2422899 . G A 37.84 PASS AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=59.45;MQ0=0;OQ=458.87;QD=13.50;SB=-199.87 GT:AD:DP:GL:GQ 0/1:18,16:31:-58.52,-9.34,-51.58:99 -chr1 2423328 . G A 53.96 PASS AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=296.62;QD=12.90;SB=-35.64 GT:AD:DP:GL:GQ 0/1:13,10:22:-39.58,-6.63,-40.93:99 -chr1 2423754 rs55874156 G A 35.47 LowQual AC=1;AF=0.50;AN=2;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;QD=5.91;SB=-7.00 GT:AD:DP:GL:GQ 0/1:3,3:5:-8.34,-1.51,-8.96:68.30 -chr1 2423760 rs12736998 C T 230.21 PASS AC=1;AF=0.50;AN=2;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=70.89;QD=11.81;SB=-46.66 GT:AD:DP:GL:GQ 0/1:3,3:6:-12.18,-1.81,-9.71:78.98 -chr1 2424604 rs3814298 C T 190.56 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=60.00;MQ0=0;OQ=798.59;QD=18.57;SB=-384.92 GT:AD:DP:GL:GQ 0/1:19,24:41:-95.50,-12.36,-53.02:99 -chr1 2428628 rs12725663 C T 86.80 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.60;MQ=59.46;MQ0=0;OQ=892.70;QD=20.76;SB=-466.01 GT:AD:DP:GL:GQ 0/1:16,27:41:-104.92,-12.36,-47.45:99 -chr1 2429459 rs2494621 C A 2.75 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=3;HaplotypeScore=1.26;MQ=59.48;MQ0=0;OQ=889.11;QD=20.21;SB=-361.22 GT:AD:DP:GL:GQ 0/1:15,29:43:-105.15,-12.95,-49.46:99 -chr1 2429541 rs4648559 C T 370.29 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=862.47;QD=17.60;SB=-340.86 GT:AD:DP:GL:GQ 0/1:22,27:49:-104.31,-14.78,-68.65:99 -chr1 2429545 rs3791180 G C 362.92 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.63;MQ0=0;OQ=669.25;QD=13.12;SB=-329.42 GT:AD:DP:GL:GQ 0/1:24,27:45:-83.79,-13.58,-96.76:99 -chr1 2434274 rs7535528 G A 398.69 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=57.41;MQ0=0;OQ=974.09;QD=16.23;SB=-447.47 GT:AD:DP:GL:GQ 0/1:29,31:55:-117.28,-16.58,-80.59:99 -chr1 2440170 rs56168662 G C 440.84 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.50;MQ0=0;OQ=641.06;QD=13.94;SB=-291.00 GT:AD:DP:GL:GQ 0/1:24,22:44:-80.67,-13.28,-95.39:99 -chr1 2442429 rs2985862 T C 118.89 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=58.11;MQ0=0;OQ=446.59;QD=12.07;SB=-57.29 GT:AD:DP:GL:GQ 0/1:20,17:36:-58.79,-10.85,-82.58:99 -chr1 2442985 . C G 26.50 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=2.73;MQ=57.66;MQ0=0;QD=0.66;SB=53.21 GT:AD:DP:GL:GQ 0/1:27,13:28:-14.38,-8.45,-107.19:59.33 -chr1 2443996 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=124;Dels=0.00;HRun=0;HaplotypeScore=42.41;MQ=51.42;MQ0=0;OQ=532.54;QD=4.29;SB=-103.57 GT:AD:DP:GL:GQ 0/1:93,31:115:-91.18,-34.64,-325.86:99 -chr1 2444008 rs12757829 A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=24.89;MQ=51.04;MQ0=0;OQ=890.38;QD=6.31;SB=-413.05 GT:AD:DP:GL:GQ 0/1:89,52:127:-130.59,-38.27,-352.78:99 -chr1 2444025 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=153;Dels=0.00;HRun=0;HaplotypeScore=101.62;MQ=51.11;MQ0=0;OQ=575.04;QD=3.76;SB=-161.02 GT:AD:DP:GL:GQ 0/1:119,34:145:-104.47,-43.68,-467.68:99 -chr1 2444046 rs11582708 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=169;Dels=0.00;HRun=3;HaplotypeScore=36.45;MQ=48.57;MQ0=0;OQ=119.48;QD=0.71;SB=230.81 GT:AD:DP:GL:GQ 0/1:152,17:154:-61.64,-46.41,-606.32:99 -chr1 2444064 rs11583446 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=165;Dels=0.00;HRun=0;HaplotypeScore=21.72;MQ=47.52;MQ0=0;OQ=2894.91;QD=17.54;SB=-1278.77 GT:AD:DP:GL:GQ 0/1:56,109:148:-337.38,-44.60,-196.45:99 -chr1 2444078 rs2494629 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=179;Dels=0.00;HRun=0;HaplotypeScore=85.91;MQ=46.23;MQ0=1;OQ=3166.59;QD=17.69;SB=-903.91 GT:AD:DP:GL:GQ 0/1:79,100:143:-363.06,-43.11,-245.67:99 -chr1 2444084 rs11583448 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=146.19;MQ=45.66;MQ0=1;OQ=1337.56;QD=7.31;SB=32.08 GT:AD:DP:GL:GQ 0/1:128,54:167:-187.36,-50.32,-447.47:99 -chr1 2444090 rs11582711 C T 0.69 PASS AC=1;AF=0.50;AN=2;DB;DP=184;Dels=0.00;HRun=1;HaplotypeScore=9.96;MQ=45.23;MQ0=1;OQ=1767.35;QD=9.61;SB=-110.22 GT:AD:DP:GL:GQ 0/1:119,64:165:-229.73,-49.72,-378.76:99 -chr1 2444114 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=167;Dels=0.00;HRun=1;HaplotypeScore=224.24;MQ=44.82;MQ0=1;OQ=1189.56;QD=7.12;SB=-484.53 GT:AD:DP:GL:GQ 0/1:105,62:153:-168.35,-46.11,-399.99:99 -chr1 2444123 rs60947977 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=164;Dels=0.00;HRun=1;HaplotypeScore=187.19;MQ=44.56;MQ0=1;OQ=222.03;QD=1.35;SB=140.46 GT:AD:DP:GL:GQ 0/1:146,18:145:-69.17,-43.68,-451.95:99 -chr1 2444144 rs12735280 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=41.21;MQ=45.78;MQ0=2;OQ=126.97;QD=0.80;SB=158.55 GT:AD:DP:GL:GQ 0/1:146,13:126:-53.98,-38.00,-474.20:99 -chr1 2444156 rs61763952 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=143;Dels=0.00;HRun=1;HaplotypeScore=50.63;MQ=44.65;MQ0=2;OQ=841.78;QD=5.89;SB=-177.38 GT:AD:DP:GL:GQ 0/1:107,36:119:-123.33,-35.87,-307.59:99 -chr1 2444175 . A G 1992.57 SnpCluster AC=1;AF=0.50;AN=2;DP=119;Dels=0.00;HRun=1;HaplotypeScore=57.72;MQ=43.73;MQ0=1;QD=16.74;SB=-969.28 GT:AD:DP:GL:GQ 0/1:46,73:107:-234.78,-32.23,-167.74:99 -chr1 2444179 . C T 733.69 SnpCluster AC=1;AF=0.50;AN=2;DP=108;Dels=0.00;HRun=1;HaplotypeScore=94.68;MQ=43.15;MQ0=1;QD=6.79;SB=-249.70 GT:AD:DP:GL:GQ 0/1:79,29:94:-104.98,-28.32,-236.84:99 -chr1 2444180 . T C 74.50 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=1;HaplotypeScore=102.88;MQ=43.30;MQ0=1;QD=0.72;SB=40.74 GT:AD:DP:GL:GQ 0/1:89,15:92:-38.46,-27.73,-318.94:99 -chr1 2444188 . C T 230.63 SnpCluster AC=1;AF=0.50;AN=2;DP=99;Dels=0.00;HRun=1;HaplotypeScore=69.58;MQ=42.94;MQ0=1;QD=2.33;SB=-68.96 GT:AD:DP:GL:GQ 0/1:80,18:83:-51.35,-25.01,-254.74:99 -chr1 2444203 rs12723596 A G 0.31 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=13.04;MQ=41.89;MQ0=1;OQ=932.46;QD=10.25;SB=-166.34 GT:AD:DP:GL:GQ 0/1:48,43:72:-118.23,-21.70,-146.57:99 -chr1 2444214 . T G 33.51 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=1;HaplotypeScore=90.11;MQ=41.94;MQ0=0;QD=0.39;SB=20.19 GT:AD:DP:GL:GQ 0/1:75,10:71:-28.02,-21.39,-222.83:66.35 -chr1 2444236 rs3001351 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=107;Dels=0.00;HRun=1;HaplotypeScore=44.56;MQ=42.21;MQ0=1;OQ=1478.32;QD=13.82;SB=-341.03 GT:AD:DP:GL:GQ 0/1:32,75:79:-174.93,-23.81,-103.79:99 -chr1 2444239 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=1;HaplotypeScore=57.18;MQ=42.22;MQ0=1;OQ=253.01;QD=2.32;SB=-45.72 GT:AD:DP:GL:GQ 0/1:94,15:81:-52.98,-24.40,-242.61:99 -chr1 2444569 rs2494625 T C 30.67 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.30;MQ0=0;OQ=234.27;QD=7.10;SB=-122.64 GT:AD:DP:GL:GQ 0/1:20,13:30:-35.75,-9.04,-76.61:99 -chr1 2445722 rs12131236 C T 283.83 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.73;MQ0=0;OQ=971.15;QD=13.87;SB=-406.34 GT:AD:DP:GL:GQ 0/1:39,31:69:-121.19,-20.79,-133.37:99 -chr1 2446063 rs3122922 A G 422.66 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=58.95;MQ0=0;OQ=840.10;QD=14.48;SB=-338.93 GT:AD:DP:GL:GQ 0/1:28,30:57:-104.46,-17.17,-113.53:99 -chr1 2452678 rs2494603 T C 117.86 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.28;MQ0=0;OQ=471.49;QD=14.73;SB=-130.66 GT:AD:DP:GL:GQ 0/1:12,20:28:-58.88,-8.44,-38.02:99 -chr1 2452695 rs10910087 A G 48.63 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=0.47;MQ=58.97;MQ0=0;OQ=650.54;QD=14.46;SB=-235.28 GT:AD:DP:GL:GQ 0/1:22,23:45:-81.90,-13.56,-89.06:99 -chr1 2453274 rs11583602 G A 37.53 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=59.57;MQ0=0;OQ=1048.89;QD=19.42;SB=-532.12 GT:AD:DP:GL:GQ 0/1:23,31:52:-123.83,-15.66,-80.52:99 -chr1 2453609 rs4648645 G T 421.56 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.61;MQ0=0;OQ=634.41;QD=13.22;SB=-255.25 GT:AD:DP:GL:GQ 0/1:25,23:48:-81.19,-14.46,-89.13:99 -chr1 2453905 rs6694195 G A 6.21 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=641.00;QD=22.10;SB=-187.27 GT:AD:DP:GL:GQ 0/1:9,20:26:-75.22,-7.83,-25.34:99 -chr1 2454427 rs12406506 G T 168.99 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=59.39;MQ0=0;OQ=384.63;QD=10.12;SB=-161.15 GT:AD:DP:GL:GQ 0/1:22,16:36:-52.59,-10.85,-75.30:99 -chr1 2454955 rs11585747 C T 158.41 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=58.68;MQ0=0;OQ=442.85;QD=9.63;SB=-209.92 GT:AD:DP:GL:GQ 0/1:30,16:43:-60.53,-12.97,-87.57:99 -chr1 2455004 rs9803764 C T 21.92 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.43;MQ0=0;OQ=718.09;QD=21.76;SB=-255.79 GT:AD:DP:GL:GQ 0/1:12,21:31:-84.43,-9.34,-35.39:99 -chr1 2455189 rs11584295 G A 326.39 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.20;MQ=59.30;MQ0=0;OQ=897.10;QD=14.95;SB=-369.89 GT:AD:DP:GL:GQ 0/1:30,30:57:-110.18,-17.19,-92.60:99 -chr1 2455531 rs4648561 T C 59.57 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=4.71;MQ=60.00;MQ0=0;OQ=506.09;QD=9.04;SB=-221.92 GT:AD:DP:GL:GQ 0/1:28,28:51:-69.27,-15.38,-110.78:99 -chr1 2455652 rs3001339 C T 0.17 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=4;HaplotypeScore=3.44;MQ=59.16;MQ0=0;OQ=1028.71;QD=18.70;SB=-294.19 GT:AD:DP:GL:GQ 0/1:22,32:53:-122.12,-15.97,-77.91:99 -chr1 2455772 rs6661956 C T 143.28 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=60.00;MQ0=0;OQ=537.50;QD=14.93;SB=-189.16 GT:AD:DP:GL:GQ 0/1:19,17:35:-67.58,-10.55,-58.49:99 -chr1 2455810 rs2494605 A G 6.95 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=3.59;MQ=59.41;MQ0=0;OQ=1343.57;QD=34.45;SB=-641.25 GT:AD:DP:GL:GQ 1/1:0,39:38:-137.96,-11.45,-0.01:99 -chr1 2456285 rs2985860 T G 0.20 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=9.84;MQ=58.13;MQ0=0;OQ=394.22;QD=7.88;SB=-79.96 GT:AD:DP:GL:GQ 0/1:20,30:34:-52.96,-10.25,-63.38:99 -chr1 2456493 rs2494606 A G 522.55 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.55;MQ0=0;OQ=1382.51;QD=30.72;SB=-394.30 GT:AD:DP:GL:GQ 1/1:0,45:44:-141.87,-13.27,-0.04:99 -chr1 2460535 . T C 626.63 Indel AC=1;AF=0.50;AN=2;DP=47;Dels=0.04;HRun=0;HaplotypeScore=9.81;MQ=45.54;MQ0=0;QD=13.33;SB=-234.30 GT:AD:DP:GL:GQ 0/1:22,23:45:-78.90,-12.95,-84.01:99 -chr1 2460708 rs12042279 G A 153.95 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=58.99;MQ0=0;OQ=696.74;QD=15.15;SB=-237.53 GT:AD:DP:GL:GQ 0/1:24,22:46:-86.83,-13.87,-76.84:99 -chr1 2461941 rs1886731 T C 87.33 PASS AC=1;AF=0.50;AN=2;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=203.62;QD=14.54;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,9:14:-27.87,-4.22,-19.55:99 -chr1 2462004 rs4487972 G C 44.05 PASS AC=1;AF=0.50;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=1.24;MQ=56.62;MQ0=0;OQ=71.85;QD=10.26;SB=-10.00 GT:AD:DP:GL:GQ 0/1:3,4:6:-12.28,-1.81,-12.84:99 -chr1 2464065 rs942824 T C 72.36 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.60;MQ=59.36;MQ0=0;OQ=370.87;QD=10.30;SB=-61.73 GT:AD:DP:GL:GQ 0/1:20,16:34:-50.61,-10.24,-77.88:99 -chr1 2465072 rs10797429 G C 201.07 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=57.71;MQ0=0;OQ=487.96;QD=13.19;SB=-257.25 GT:AD:DP:GL:GQ 0/1:21,16:34:-62.33,-10.25,-80.32:99 -chr1 2465334 rs55929178 C T 11.28 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=4.63;MQ=56.91;MQ0=0;OQ=721.66;QD=14.73;SB=-233.74 GT:AD:DP:GL:GQ 0/1:26,23:43:-88.40,-12.95,-74.05:99 -chr1 2467218 rs12097268 T A 23.21 PASS AC=1;AF=0.50;AN=2;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=190.70;QD=11.22;SB=-35.94 GT:AD:DP:GL:GQ 0/1:9,8:17:-27.48,-5.13,-30.96:99 -chr1 2468371 rs2477678 T A 119.20 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=60.00;MQ0=0;OQ=463.47;QD=13.24;SB=-147.88 GT:AD:DP:GL:GQ 0/1:17,17:32:-59.27,-9.64,-59.80:99 -chr1 2469843 rs1974044 A G 45.39 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=3.40;MQ=59.34;MQ0=0;OQ=371.34;QD=10.61;SB=-193.60 GT:AD:DP:GL:GQ 0/1:21,14:32:-50.06,-9.64,-71.49:99 -chr1 2471303 . C T 62.24 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=41.42;MQ0=6;OQ=776.47;QD=14.38;SB=-282.22 GT:AD:DP:GL:GQ 0/1:29,25:42:-93.59,-12.66,-60.88:99 -chr1 2472781 rs2147905 T C 210.38 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=57.08;MQ0=0;OQ=779.17;QD=15.90;SB=-258.93 GT:AD:DP:GL:GQ 0/1:21,26:47:-95.36,-14.16,-80.25:99 -chr1 2473130 rs3748825 T C 24.77 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=50.53;MQ0=0;OQ=489.49;QD=14.40;SB=-174.97 GT:AD:DP:GL:GQ 0/1:17,17:34:-62.48,-10.24,-67.15:99 -chr1 2473158 rs2985858 C G 170.01 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.64;MQ=52.63;MQ0=0;OQ=759.64;QD=17.67;SB=-375.14 GT:AD:DP:GL:GQ 0/1:22,21:42:-91.90,-12.65,-91.93:99 -chr1 2474608 rs4449972 T C 1.07 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=17.16;MQ0=14;OQ=59.70;QD=2.60;SB=-42.68 GT:AD:DP:GL:GQ 0/1:13,10:7:-11.36,-2.11,-16.47:92.53 -chr1 2474629 rs2764846 G T 13.02 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=13.44;MQ0=12;OQ=72.28;QD=4.25;SB=-10.00 GT:AD:DP:GL:GQ 1/1:7,10:3:-10.72,-0.90,-0.00:9.03 -chr1 2474959 rs10910088 A G 3.08 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=22.58;MQ0=15;OQ=106.75;QD=3.44;SB=-10.00 GT:AD:DP:GL:GQ 0/1:16,14:12:-17.58,-3.63,-21.51:99 -chr1 2475164 rs2182176 C T 397.56 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=48.51;MQ0=0;OQ=552.02;QD=13.14;SB=-223.69 GT:AD:DP:GL:GQ 0/1:24,18:39:-70.24,-11.76,-69.97:99 -chr1 2475556 rs1555791 C G 11.33 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=3;HaplotypeScore=2.88;MQ=58.58;MQ0=0;OQ=550.02;QD=11.96;SB=-241.08 GT:AD:DP:GL:GQ 0/1:27,19:40:-70.37,-12.08,-87.80:99 -chr1 2475800 rs10910089 C A 3.66 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=9.04;MQ=58.28;MQ0=0;OQ=671.47;QD=13.70;SB=-238.39 GT:AD:DP:GL:GQ 0/1:23,26:46:-84.29,-13.86,-77.00:99 -chr1 2476366 rs61054170 G A 7.02 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=6.03;MQ=57.64;MQ0=0;OQ=224.60;QD=8.64;SB=-97.61 GT:AD:DP:GL:GQ 0/1:16,10:23:-32.68,-6.93,-48.70:99 -chr1 2476391 rs2495365 T C 262.15 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=56.62;MQ0=0;OQ=373.37;QD=12.04;SB=-190.59 GT:AD:DP:GL:GQ 0/1:16,15:29:-49.36,-8.74,-57.56:99 -chr1 2476740 rs11577783 T C 207.60 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=58.69;MQ0=0;OQ=459.72;QD=9.19;SB=-194.29 GT:AD:DP:GL:GQ 0/1:30,20:49:-64.03,-14.78,-111.22:99 -chr1 2476777 rs7550231 C T 162.70 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.21;MQ0=0;OQ=483.70;QD=13.44;SB=-69.05 GT:AD:DP:GL:GQ 0/1:20,15:32:-61.30,-9.65,-52.93:99 -chr1 2477765 rs7515633 T C 23.90 PASS AC=1;AF=0.50;AN=2;DB;DP=18;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=58.71;MQ0=0;OQ=253.35;QD=14.07;SB=-51.83 GT:AD:DP:GL:GQ 0/1:8,10:18:-34.04,-5.43,-30.81:99 -chr1 2477769 rs7544646 G C 297.66 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=18;Dels=0.00;HRun=2;HaplotypeScore=6.07;MQ=56.04;MQ0=0;QD=16.54;SB=-32.86 GT:AD:DP:GL:GQ 0/1:9,9:14:-37.27,-4.22,-20.23:99 -chr1 2477776 . G C 10.29 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=1;HaplotypeScore=18.19;MQ=56.92;MQ0=0;QD=0.45;SB=20.10 GT:AD:DP:GL:GQ 0/1:13,10:13:-8.19,-3.92,-49.87:42.70 -chr1 2477778 . A C 172 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=2;HaplotypeScore=22.60;MQ=57.66;MQ0=0;QD=5.73;SB=23.08 GT:AD:DP:GL:GQ 0/1:12,18:21:-26.81,-6.33,-40.53:99 -chr1 2477836 rs2843396 C G 11.98 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=3.04;MQ=59.36;MQ0=0;OQ=1290.53;QD=35.85;SB=-556.54 GT:AD:DP:GL:GQ 1/1:0,36:34:-132.68,-10.27,-0.04:99 -chr1 2478204 rs10910090 G A 182.29 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=59.53;MQ0=0;OQ=449.68;QD=11.24;SB=-202.69 GT:AD:DP:GL:GQ 0/1:23,17:38:-59.71,-11.46,-71.62:99 -chr1 2479633 rs8725 C T 49.19 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=1.46;MQ=59.51;MQ0=0;OQ=577.64;QD=12.29;SB=-219.70 GT:AD:DP:GL:GQ 0/1:27,20:42:-73.71,-12.66,-80.51:99 -chr1 2480088 rs2234167 C T 215.09 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=60.00;MQ0=0;OQ=519.75;QD=13.33;SB=-131.13 GT:AD:DP:GL:GQ 0/1:22,17:38:-66.72,-11.46,-63.96:99 -chr1 2481753 rs11573988 C A 159.02 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=59.54;MQ0=0;OQ=542.33;QD=13.23;SB=-158.65 GT:AD:DP:GL:GQ 0/1:20,21:37:-68.66,-11.14,-62.61:99 -chr1 2483213 rs2234161 G A 326.82 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=58.71;MQ0=0;OQ=435.68;QD=12.10;SB=-173.67 GT:AD:DP:GL:GQ 0/1:20,16:32:-56.50,-9.65,-56.89:99 -chr1 2483476 rs2281852 G T 352.55 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=59.50;MQ0=0;OQ=604.05;QD=13.13;SB=-299.46 GT:AD:DP:GL:GQ 0/1:23,23:43:-76.65,-12.96,-66.34:99 -chr1 2483520 rs2257763 G T 186.21 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.87;MQ=58.41;MQ0=0;OQ=599.64;QD=13.63;SB=-190.60 GT:AD:DP:GL:GQ 0/1:21,23:41:-75.60,-12.36,-64.98:99 -chr1 2485488 rs2495366 C T 214.98 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=59.54;MQ0=0;OQ=410.34;QD=10.01;SB=-177.87 GT:AD:DP:GL:GQ 0/1:24,17:33:-54.27,-9.95,-57.69:99 -chr1 2485810 rs1886730 A G 395.82 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=201.47;QD=10.07;SB=-95.61 GT:AD:DP:GL:GQ 0/1:11,9:20:-29.46,-6.03,-42.35:99 -chr1 2486265 rs4870 T C 17.43 PASS AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=53.94;MQ0=0;OQ=133.00;QD=5.54;SB=-10.85 GT:AD:DP:GL:GQ 0/1:16,8:22:-23.21,-6.63,-59.96:99 -chr1 2486652 rs2227313 A G 323.64 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.95;MQ0=0;OQ=361.41;QD=9.04;SB=-171.95 GT:AD:DP:GL:GQ 0/1:24,16:39:-51.18,-11.76,-90.45:99 -chr1 2486755 rs2227312 G T 192.71 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.51;MQ0=0;OQ=435.37;QD=11.46;SB=-199.58 GT:AD:DP:GL:GQ 0/1:21,17:35:-57.36,-10.54,-70.01:99 -chr1 2489670 rs4449972 A G 6.05 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=14.84;MQ0=21;OQ=104.96;QD=3.09;SB=-10.00 GT:AD:DP:GL:GQ 0/1:18,15:5:-15.28,-1.51,-4.27:27.62 -chr1 2489758 rs4385650 G C 16.53 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=2;HaplotypeScore=2.00;MQ=35.98;MQ0=1;OQ=450.14;QD=15.00;SB=-208.64 GT:AD:DP:GL:GQ 0/1:17,13:27:-56.44,-8.15,-54.66:99 -chr1 2490753 rs4648647 G A 26.84 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=1.33;MQ=50.09;MQ0=0;OQ=371.65;QD=10.04;SB=-147.20 GT:AD:DP:GL:GQ 0/1:24,13:35:-51.00,-10.56,-68.63:99 -chr1 2490924 . G A 58.67 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=40.19;MQ0=3;OQ=773.22;QD=14.59;SB=-281.28 GT:AD:DP:GL:GQ 0/1:27,26:42:-93.26,-12.65,-67.56:99 -chr1 2491198 rs10797432 C T 12.45 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=7.73;MQ=51.44;MQ0=1;OQ=449.43;QD=8.48;SB=-221.51 GT:AD:DP:GL:GQ 0/1:35,17:47:-62.39,-14.17,-101.99:99 -chr1 2491376 rs10910092 A G 353.95 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=58.86;MQ0=0;OQ=953.50;QD=15.89;SB=-479.29 GT:AD:DP:GL:GQ 0/1:27,33:59:-116.41,-17.77,-105.03:99 -chr1 2491870 rs10797433 T C 399.98 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.09;MQ0=0;OQ=643.74;QD=13.99;SB=-281.26 GT:AD:DP:GL:GQ 0/1:20,26:45:-81.22,-13.56,-79.26:99 -chr1 2492640 rs6667605 C T 284.33 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=60.00;MQ0=0;OQ=1076.76;QD=20.32;SB=-511.53 GT:AD:DP:GL:GQ 0/1:22,31:53:-126.92,-15.96,-81.92:99 -chr1 2492694 rs6672381 A G 59.10 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=2.96;MQ=59.67;MQ0=0;OQ=836.72;QD=14.68;SB=-261.21 GT:AD:DP:GL:GQ 0/1:25,31:56:-103.83,-16.88,-100.88:99 -chr1 2493042 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=3;HaplotypeScore=24.29;MQ=58.55;MQ0=0;OQ=229.07;QD=5.45;SB=41.17 GT:AD:DP:GL:GQ 0/1:24,18:31:-35.54,-9.35,-97.62:99 -chr1 2494094 rs6671426 C A 112.49 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=782.65;QD=13.98;SB=-297.63 GT:AD:DP:GL:GQ 0/1:30,26:56:-98.41,-16.86,-108.17:99 -chr1 2494223 rs28734787 T C 285.54 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.94;MQ=59.74;MQ0=0;OQ=1016.84;QD=14.32;SB=-488.08 GT:AD:DP:GL:GQ 0/1:37,34:71:-126.35,-21.38,-153.97:99 -chr1 2495573 rs10910093 C T 602.04 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1162.34;QD=15.92;SB=-466.49 GT:AD:DP:GL:GQ 0/1:38,35:73:-141.53,-22.01,-121.32:99 -chr1 2496089 rs55658746 T C 89.31 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=0.87;MQ=57.64;MQ0=0;OQ=790.54;QD=12.35;SB=-411.26 GT:AD:DP:GL:GQ 0/1:36,28:63:-101.32,-18.98,-139.07:99 -chr1 2496219 rs2477685 G T 165.82 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=55.91;MQ0=0;OQ=1646.89;QD=32.29;SB=-779.73 GT:AD:DP:GL:GQ 1/1:1,50:48:-168.30,-14.46,-0.02:99 -chr1 2496348 rs10910094 C T 138.18 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=47.91;MQ0=1;OQ=444.30;QD=9.66;SB=-141.63 GT:AD:DP:GL:GQ 0/1:26,19:40:-59.77,-12.06,-79.45:99 -chr1 2497303 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=4;HaplotypeScore=6.77;MQ=59.20;MQ0=0;OQ=63.06;QD=2.17;SB=17.06 GT:AD:DP:GL:GQ 0/1:13,16:15:-14.11,-4.52,-33.25:95.89 -chr1 2497798 rs10752745 A G 23.19 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=2.74;MQ=53.22;MQ0=0;OQ=566.34;QD=12.59;SB=-208.51 GT:AD:DP:GL:GQ 0/1:24,21:42:-72.57,-12.65,-89.49:99 -chr1 2498203 rs6675676 G C 138.01 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=30.17;MQ0=2;OQ=540.65;QD=15.02;SB=-227.70 GT:AD:DP:GL:GQ 0/1:18,18:32:-67.01,-9.66,-62.30:99 -chr1 2500615 rs10910095 G A 293.14 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=53.83;MQ0=0;OQ=619.40;QD=15.49;SB=-326.87 GT:AD:DP:GL:GQ 0/1:18,21:35:-75.77,-10.55,-51.15:99 -chr1 2501140 rs10797434 C T 359.97 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=59.72;MQ0=0;OQ=1006.21;QD=15.25;SB=-442.36 GT:AD:DP:GL:GQ 0/1:35,31:65:-123.49,-19.58,-121.16:99 -chr1 2501248 rs12129508 G A 509.24 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1099.72;QD=18.33;SB=-426.78 GT:AD:DP:GL:GQ 0/1:28,32:59:-131.03,-17.77,-95.59:99 -chr1 2502312 rs4648648 G A 10.75 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=5.67;MQ=56.86;MQ0=0;OQ=538.80;QD=17.96;SB=-254.77 GT:AD:DP:GL:GQ 0/1:13,17:27:-65.30,-8.13,-39.62:99 -chr1 2502510 rs4648649 T C 255.66 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=58.39;MQ0=0;OQ=590.46;QD=13.42;SB=-228.32 GT:AD:DP:GL:GQ 0/1:17,27:40:-74.40,-12.07,-60.31:99 -chr1 2502570 rs10910096 T C 112.48 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.22;MQ0=0;OQ=671.99;QD=19.20;SB=-218.66 GT:AD:DP:GL:GQ 0/1:13,22:35:-81.03,-10.54,-52.21:99 -chr1 2502755 . G A 190.59 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=20;HaplotypeScore=16.86;MQ=48.05;MQ0=1;QD=2.32;SB=89.22 GT:AD:DP:GL:GQ 0/1:62,20:60:-40.44,-18.10,-157.12:99 -chr1 2502759 . G A 95.63 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=4;HaplotypeScore=8.02;MQ=49.03;MQ0=1;QD=1.15;SB=92.21 GT:AD:DP:GL:GQ 0/1:62,21:60:-30.94,-18.09,-170.87:99 -chr1 2502764 . G A 61.94 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=4;HaplotypeScore=11.73;MQ=52.06;MQ0=1;QD=0.77;SB=101.27 GT:AD:DP:GL:GQ 0/1:64,16:66:-29.37,-19.89,-196.86:94.78 -chr1 2502769 . G A 36.83 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=4;HaplotypeScore=29.21;MQ=54.00;MQ0=1;QD=0.49;SB=101.32 GT:AD:DP:GL:GQ 0/1:66,9:67:-27.16,-20.19,-206.36:69.66 -chr1 2502915 rs4486391 A T 575.38 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=706.11;QD=12.61;SB=-348.36 GT:AD:DP:GL:GQ 0/1:31,25:55:-90.46,-16.56,-121.47:99 -chr1 2502965 rs735000 C T 134.95 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=59.41;MQ0=0;OQ=774.05;QD=19.85;SB=-347.38 GT:AD:DP:GL:GQ 0/1:16,23:37:-91.84,-11.15,-44.36:99 -chr1 2503076 rs734999 C T 284.99 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=51.96;MQ0=0;OQ=837.38;QD=13.51;SB=-164.65 GT:AD:DP:GL:GQ 0/1:35,27:61:-105.40,-18.37,-127.82:99 -chr1 2503492 rs2016175 C G 123.40 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.61;MQ=50.82;MQ0=0;OQ=1084.11;QD=19.71;SB=-398.00 GT:AD:DP:GL:GQ 0/1:24,31:54:-127.97,-16.28,-102.13:99 -chr1 2503538 rs2016366 A T 76.85 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=3.79;MQ=51.20;MQ0=0;OQ=1061.50;QD=16.33;SB=-509.95 GT:AD:DP:GL:GQ 0/1:31,34:63:-128.41,-18.98,-104.88:99 -chr1 2504435 rs2094074 C T 20.77 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=6.13;MQ=59.30;MQ0=0;OQ=1039.69;QD=17.04;SB=-426.84 GT:AD:DP:GL:GQ 0/1:29,32:61:-125.64,-18.39,-96.67:99 -chr1 2506299 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=2;HaplotypeScore=15.52;MQ=57.83;MQ0=0;OQ=93.19;QD=2.39;SB=56.19 GT:AD:DP:GL:GQ 0/1:27,12:31:-21.95,-9.34,-90.63:99 -chr1 2511290 rs10910097 C T 251.37 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.33;MQ=59.70;MQ0=0;OQ=1148.10;QD=18.52;SB=-511.69 GT:AD:DP:GL:GQ 0/1:27,35:61:-136.47,-18.38,-99.00:99 -chr1 2512252 rs2296443 G A 195.68 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=59.53;MQ0=0;OQ=544.43;QD=13.61;SB=-235.74 GT:AD:DP:GL:GQ 0/1:18,22:33:-67.68,-9.95,-51.18:99 -chr1 2515036 . A C 42.97 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=58.51;MQ0=0;OQ=337.76;QD=7.68;SB=-183.81 GT:AD:DP:GL:GQ 0/1:27,17:42:-49.72,-12.66,-93.24:99 -chr1 2517538 rs2260976 A G 4.94 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=2.14;MQ=56.76;MQ0=0;OQ=1272.91;QD=31.05;SB=-372.36 GT:AD:DP:GL:GQ 1/1:0,41:39:-130.90,-11.76,-0.03:99 -chr1 2517993 rs2843401 T C 105.48 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=57.77;MQ0=0;OQ=962.33;QD=26.73;SB=-342.23 GT:AD:DP:GL:GQ 1/1:0,36:31:-99.85,-9.36,-0.04:93.19 -chr1 2518542 rs2843402 T C 221.44 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=3.08;MQ=60.00;MQ0=0;OQ=1968.59;QD=35.79;SB=-942.98 GT:AD:DP:GL:GQ 1/1:0,55:55:-200.46,-16.56,-0.01:99 -chr1 2518859 rs2764845 G T 123.68 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.65;MQ=60.00;MQ0=0;OQ=1822.58;QD=33.75;SB=-893.66 GT:AD:DP:GL:GQ 1/1:0,54:52:-185.86,-15.67,-0.02:99 -chr1 2518957 rs2843403 T C 21.95 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=2;HaplotypeScore=1.02;MQ=56.17;MQ0=0;OQ=926.62;QD=29.89;SB=-317.56 GT:AD:DP:GL:GQ 1/1:0,31:28:-96.27,-8.44,-0.02:84.21 -chr1 2519052 rs2764842 A G 76.78 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=1201.00;QD=30.79;SB=-460.21 GT:AD:DP:GL:GQ 1/1:0,39:38:-123.72,-11.46,-0.03:99 -chr1 2519220 rs2764841 G A 268.55 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=59.01;MQ0=0;OQ=1602.47;QD=34.10;SB=-756.02 GT:AD:DP:GL:GQ 1/1:0,46:43:-163.85,-12.96,-0.02:99 -chr1 2519297 rs2764840 C T 22.50 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=57.55;MQ0=0;OQ=1701.90;QD=37.00;SB=-691.34 GT:AD:DP:GL:GQ 1/1:0,46:43:-173.78,-12.95,-0.01:99 -chr1 2520418 rs2843404 T C 200.03 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.75;MQ0=0;OQ=2535.27;QD=33.80;SB=-857.06 GT:AD:DP:GL:GQ 1/1:0,75:73:-257.13,-21.99,-0.02:99 -chr1 2520554 rs2764848 G A 508.37 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2620.71;QD=40.32;SB=-1288.71 GT:AD:DP:GL:GQ 1/1:0,65:65:-265.67,-19.58,-0.01:99 -chr1 2521232 rs2985855 A C 625.35 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.53;MQ0=0;OQ=2344.13;QD=34.47;SB=-1125.14 GT:AD:DP:GL:GQ 1/1:0,68:67:-238.02,-20.18,-0.02:99 -chr1 2521327 rs6689711 T C 152.61 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.71;MQ0=0;OQ=2140.18;QD=32.93;SB=-405.31 GT:AD:DP:GL:GQ 1/1:0,65:64:-217.64,-19.29,-0.04:99 -chr1 2521365 rs6681973 C T 205.20 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.81;MQ0=0;OQ=1951.81;QD=38.27;SB=-716.95 GT:AD:DP:GL:GQ 1/1:0,51:50:-198.79,-15.07,-0.02:99 -chr1 2521374 rs6682043 C A 555.65 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.76;MQ0=0;OQ=1757.71;QD=35.87;SB=-715.96 GT:AD:DP:GL:GQ 1/1:0,49:49:-179.37,-14.76,-0.01:99 -chr1 2521839 . A G 1244.02 Indel AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.74;MQ0=0;QD=31.90;SB=-233.75 GT:AD:DP:GL:GQ 1/1:1,38:37:-132.07,-11.15,-4.08:70.65 -chr1 2522276 rs2985859 T C 630.86 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=55.35;MQ0=0;OQ=2205.91;QD=35.58;SB=-1051.93 GT:AD:DP:GL:GQ 1/1:0,62:62:-224.19,-18.67,-0.02:99 -chr1 2522366 rs3001837 G A 528.70 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.76;MQ0=0;OQ=2660.16;QD=39.12;SB=-1251.03 GT:AD:DP:GL:GQ 1/1:0,68:68:-269.62,-20.49,-0.02:99 -chr1 2522484 rs2985857 C T 472.23 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.51;MQ0=0;OQ=3579.52;QD=41.62;SB=-1476.96 GT:AD:DP:GL:GQ 1/1:0,86:86:-356.95,-25.90,-0.02:99 -chr1 2522759 rs6424092 C A 529.01 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2798.98;QD=36.83;SB=-1322.91 GT:AD:DP:GL:GQ 1/1:0,76:75:-283.50,-22.58,-0.01:99 -chr1 2523213 . A C 18.95 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=2;HaplotypeScore=7.65;MQ=59.48;MQ0=0;QD=0.43;SB=47.15 GT:AD:DP:GL:GQ 0/1:27,17:32:-14.82,-9.65,-87.52:51.73 -chr1 2530333 . T C 29.61 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=7.38;MQ=54.61;MQ0=1;QD=0.64;SB=33.57 GT:AD:DP:GL:GQ 0/1:37,5:39:-21.30,-15.06,-133.42:62.44 -chr1 2530381 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=20.91;MQ=54.33;MQ0=2;OQ=131.02;QD=2.85;SB=56.21 GT:AD:DP:GL:GQ 0/1:39,7:40:-28.44,-12.05,-138.25:99 -chr1 2537888 rs4379628 A G 6.62 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=4.46;MQ=59.75;MQ0=0;OQ=2299.26;QD=31.07;SB=-964.39 GT:AD:DP:GL:GQ 1/1:0,74:72:-233.58,-21.72,-0.07:99 -chr1 2541362 . T C 301.82 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.33;MQ0=0;OQ=1099.72;QD=15.94;SB=-567.63 GT:AD:DP:GL:GQ 0/1:31,38:67:-133.44,-20.18,-122.76:99 -chr1 2541645 rs12117343 C T 412.42 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=59.64;MQ0=0;OQ=1073.30;QD=16.77;SB=-513.05 GT:AD:DP:GL:GQ 0/1:32,32:63:-129.60,-18.99,-99.14:99 -chr1 2543980 rs61765771 T G 318.19 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=60.00;MQ0=0;OQ=635.63;QD=14.45;SB=-332.88 GT:AD:DP:GL:GQ 0/1:20,24:43:-79.80,-12.95,-72.63:99 -chr1 2546847 . G A 17.21 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=58.27;MQ0=0;OQ=1072.92;QD=19.87;SB=-329.89 GT:AD:DP:GL:GQ 0/1:19,35:49:-125.34,-14.77,-58.33:99 -chr1 2547051 rs7523364 C T 194.54 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=55.15;MQ0=0;OQ=3310.62;QD=39.41;SB=-1353.31 GT:AD:DP:GL:GQ 1/1:0,84:83:-330.06,-25.01,-0.03:99 -chr1 2547391 rs6422657 C T 186.53 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=60.00;MQ0=0;OQ=2783.42;QD=38.13;SB=-1334.38 GT:AD:DP:GL:GQ 1/1:1,71:72:-284.61,-21.69,-2.69:99 -chr1 2548168 rs6668149 A C 205.71 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.44;MQ0=0;OQ=2627.68;QD=35.04;SB=-1288.37 GT:AD:DP:GL:GQ 1/1:0,75:74:-266.37,-22.29,-0.02:99 -chr1 2548600 rs12748729 C T 627.69 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=2890.24;QD=37.05;SB=-1331.37 GT:AD:DP:GL:GQ 1/1:0,78:77:-292.65,-23.21,-0.04:99 -chr1 2549449 rs12730932 T G 82.44 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.16;MQ0=0;OQ=1601.53;QD=32.03;SB=-737.35 GT:AD:DP:GL:GQ 1/1:0,50:47:-163.76,-14.16,-0.02:99 -chr1 2550595 rs4648657 A G 5.77 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.33;MQ0=0;OQ=350.17;QD=25.01;SB=-43.68 GT:AD:DP:GL:GQ 1/1:0,14:13:-38.62,-3.93,-0.02:39.06 -chr1 2550742 rs4648658 G A 10.42 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.23;MQ0=0;OQ=551.80;QD=32.46;SB=-125.66 GT:AD:DP:GL:GQ 1/1:0,17:15:-58.77,-4.52,-0.01:45.14 -chr1 2550763 rs4648659 T G 0.34 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=55.52;MQ0=0;OQ=309.18;QD=19.32;SB=-86.14 GT:AD:DP:GL:GQ 1/1:0,16:12:-34.52,-3.62,-0.02:36.01 -chr1 2551146 rs28532547 T G 110.03 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=53.21;MQ0=0;OQ=1059.23;QD=30.26;SB=-548.02 GT:AD:DP:GL:GQ 1/1:0,35:32:-109.53,-9.64,-0.02:96.26 -chr1 2552029 rs4648564 C T 0.99 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=7.47;MQ=58.85;MQ0=1;OQ=2625.23;QD=39.18;SB=-1028.39 GT:AD:DP:GL:GQ 1/1:1,66:66:-266.13,-19.88,-0.02:99 -chr1 2553110 rs12749591 G T 349.46 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.95;MQ0=0;OQ=723.50;QD=32.89;SB=-266.61 GT:AD:DP:GL:GQ 1/1:0,22:22:-75.95,-6.63,-0.01:66.17 -chr1 2553270 . G T 45.57 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=1;HaplotypeScore=10.71;MQ=58.27;MQ0=0;QD=1.69;SB=20.06 GT:AD:DP:GL:GQ 0/1:17,10:20:-13.87,-6.03,-50.95:78.40 -chr1 2554043 rs6698817 T C 9.96 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.30;MQ0=0;OQ=887.43;QD=26.89;SB=-424.17 GT:AD:DP:GL:GQ 1/1:0,33:29:-92.36,-8.75,-0.03:87.20 -chr1 2554325 rs12752515 T C 17.47 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.11;MQ0=0;OQ=775.65;QD=29.83;SB=-403.34 GT:AD:DP:GL:GQ 1/1:0,26:25:-81.17,-7.54,-0.02:75.18 -chr1 2554665 rs12723864 A G 160.30 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=60.00;MQ0=0;OQ=414.17;QD=9.86;SB=-197.61 GT:AD:DP:GL:GQ 0/1:26,16:42:-57.35,-12.65,-104.43:99 -chr1 2555187 rs55649610 G T 258.93 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.99;MQ0=0;OQ=951.34;QD=20.68;SB=-431.11 GT:AD:DP:GL:GQ 0/1:14,32:46:-112.28,-13.86,-47.81:99 -chr1 2555885 . C T 1.81 PASS AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=57.89;MQ0=0;OQ=690.84;QD=23.82;SB=-291.84 GT:AD:DP:GL:GQ 0/1:8,21:28:-80.81,-8.44,-25.16:99 -chr1 2556197 . T G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=1;HaplotypeScore=11.22;MQ=54.79;MQ0=0;OQ=66.20;QD=3.31;SB=-59.09 GT:AD:DP:GL:GQ 0/1:16,4:14:-14.12,-4.22,-33.87:99 -chr1 2556342 rs6657378 T G 21.29 LowQual AC=1;AF=0.50;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=3.31;MQ=37.32;MQ0=0;QD=3.04;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,2:5:-6.92,-1.51,-9.22:54.10 -chr1 2556350 rs6671623 G A 0.26 PASS AC=2;AF=1.00;AN=2;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=6.12;MQ=40.03;MQ0=1;OQ=207.84;QD=25.98;SB=-95.34 GT:AD:DP:GL:GQ 1/1:1,7:6:-24.36,-1.81,-0.00:18.06 -chr1 2556357 rs6671625 G A 182.34 PASS AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=43.68;MQ0=1;OQ=89.01;QD=14.84;SB=-50.56 GT:AD:DP:GL:GQ 1/1:1,5:3:-12.39,-0.90,-0.00:9.03 -chr1 2556483 rs61765773 C T 0.15 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=11.29;MQ=45.87;MQ0=1;OQ=153.35;QD=5.11;SB=26.06 GT:AD:DP:GL:GQ 0/1:23,7:20:-24.65,-6.03,-43.69:99 -chr1 2556797 rs61765774 G C 178.56 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.58;MQ0=0;OQ=587.02;QD=17.79;SB=-197.49 GT:AD:DP:GL:GQ 0/1:16,17:32:-71.63,-9.64,-64.58:99 -chr1 2557281 rs12756665 C T 187.45 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.25;MQ=59.28;MQ0=0;OQ=722.29;QD=11.29;SB=-327.75 GT:AD:DP:GL:GQ 0/1:40,24:64:-94.79,-19.28,-146.15:99 -chr1 2557351 rs12739597 A G 96.49 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.40;MQ=59.10;MQ0=0;OQ=470.82;QD=7.03;SB=-215.20 GT:AD:DP:GL:GQ 0/1:44,23:67:-70.56,-20.20,-177.79:99 -chr1 2557360 rs6666788 A G 33.09 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=2.28;MQ=59.11;MQ0=0;OQ=2385.56;QD=35.08;SB=-1067.87 GT:AD:DP:GL:GQ 1/1:0,68:67:-242.16,-20.18,-0.02:99 -chr1 2558285 rs4648661 T C 264.82 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.64;MQ=58.76;MQ0=0;OQ=708.13;QD=11.80;SB=-352.07 GT:AD:DP:GL:GQ 0/1:29,30:58:-91.59,-17.49,-110.76:99 -chr1 2559883 rs4648565 A G 68.89 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.61;MQ0=0;OQ=1657.37;QD=34.53;SB=-734.30 GT:AD:DP:GL:GQ 1/1:0,48:47:-169.34,-14.16,-0.02:99 -chr1 2561683 rs28690427 A G 44.51 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=58.48;MQ0=0;OQ=1625.27;QD=33.17;SB=-564.36 GT:AD:DP:GL:GQ 1/1:0,49:47:-166.13,-14.16,-0.02:99 -chr1 2563059 rs4648662 A G 36.80 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=57.88;MQ0=0;OQ=986.78;QD=31.83;SB=-278.44 GT:AD:DP:GL:GQ 1/1:0,30:28:-102.27,-8.43,-0.01:84.25 -chr1 2563587 rs4648663 A C 432.35 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.55;MQ0=0;OQ=1398.67;QD=33.30;SB=-656.05 GT:AD:DP:GL:GQ 1/1:0,42:41:-143.47,-12.35,-0.02:99 -chr1 2563763 rs12726651 C T 270.02 PASS AC=1;AF=0.50;AN=2;DB;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.90;MQ0=0;OQ=164.81;QD=9.69;SB=-74.06 GT:AD:DP:GL:GQ 0/1:11,6:16:-24.59,-4.82,-34.68:99 -chr1 2563938 rs9970196 T C 22.23 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=0.81;MQ=59.28;MQ0=0;OQ=1014.31;QD=31.70;SB=-295.06 GT:AD:DP:GL:GQ 1/1:0,32:30:-105.04,-9.04,-0.02:90.22 -chr1 2566315 rs6604989 T C 18.73 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.60;MQ0=0;OQ=1647.45;QD=28.40;SB=-794.64 GT:AD:DP:GL:GQ 1/1:0,58:52:-168.38,-15.68,-0.05:99 -chr1 2568080 rs12744876 G T 183.89 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.61;MQ=58.84;MQ0=0;OQ=1106.09;QD=17.02;SB=-318.70 GT:AD:DP:GL:GQ 0/1:29,35:64:-133.17,-19.27,-104.78:99 -chr1 2571402 rs28611770 A G 632.64 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.32;MQ0=1;OQ=2534.42;QD=35.20;SB=-1124.79 GT:AD:DP:GL:GQ 1/1:0,72:70:-257.05,-21.08,-0.02:99 -chr1 2571473 . C T 26.42 PASS AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=54.51;MQ0=1;OQ=420.48;QD=8.58;SB=-192.15 GT:AD:DP:GL:GQ 0/1:33,16:41:-57.68,-12.35,-93.81:99 -chr1 2571476 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=3;HaplotypeScore=3.65;MQ=54.65;MQ0=1;OQ=290.92;QD=5.94;SB=-124.22 GT:AD:DP:GL:GQ 0/1:34,15:41:-44.73,-12.36,-110.26:99 -chr1 2571505 . C T 0.62 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=52.42;MQ0=0;OQ=231.01;QD=4.20;SB=-18.13 GT:AD:DP:GL:GQ 0/1:42,13:52:-42.05,-15.67,-144.47:99 -chr1 2571527 . A T 14.96 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.42;MQ=51.64;MQ0=0;OQ=434.87;QD=7.91;SB=-142.65 GT:AD:DP:GL:GQ 0/1:35,20:51:-62.14,-15.37,-122.01:99 -chr1 2572200 rs12732266 C G 51.91 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=5.49;MQ=58.04;MQ0=0;OQ=559.70;QD=11.91;SB=-261.11 GT:AD:DP:GL:GQ 0/1:26,21:41:-71.62,-12.36,-99.19:99 -chr1 2573315 rs12738064 C T 887.13 DPFilter;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=171.89;MQ=24.26;MQ0=9;QD=6.67;SB=-137.01 GT:AD:DP:GL:GQ 1/1:10,119:25:-96.41,-11.12,-4.11:70.06 -chr1 2573322 . T G 343.20 DPFilter;SnpCluster AC=2;AF=1.00;AN=2;DP=144;Dels=0.01;HRun=0;HaplotypeScore=333.45;MQ=22.10;MQ0=11;QD=2.38;SB=-10.00 GT:AD:DP:GL:GQ 1/1:29,104:11:-37.91,-3.31,-0.00:33.09 -chr1 2573323 . C G 95.88 DPFilter;SnpCluster AC=2;AF=1.00;AN=2;DP=144;Dels=0.01;HRun=1;HaplotypeScore=342.46;MQ=22.10;MQ0=11;QD=0.67;SB=-10.00 GT:AD:DP:GL:GQ 1/1:103,36:3:-13.08,-0.90,-0.00:9.03 -chr1 2573324 . G C 506.46 DPFilter;Indel;SnpCluster AC=2;AF=1.00;AN=2;DP=147;Dels=0.01;HRun=1;HaplotypeScore=339.64;MQ=22.28;MQ0=11;QD=3.45;SB=-10.00 GT:AD:DP:GL:GQ 1/1:15,116:14:-57.88,-7.75,-3.65:41.01 -chr1 2573329 rs12734173 G A 146.94 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=218;Dels=0.00;HRun=1;HaplotypeScore=513.41;MQ=21.01;MQ0=20;QD=0.67;SB=-10.00 GT:AD:DP:GL:GQ 0/1:132,84:24:-25.21,-7.23,-67.73:99 -chr1 2573338 . C G 83.26 DPFilter;HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=290;Dels=0.00;HRun=0;HaplotypeScore=710.09;MQ=20.03;MQ0=40;QD=0.29;SB=-0.97 GT:AD:DP:GL:GQ 0/1:254,26:38:-23.06,-11.45,-135.55:99 -chr1 2573342 . C A 213.70 DPFilter;HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=322;Dels=0.00;HRun=1;HaplotypeScore=673.88;MQ=20.07;MQ0=46;QD=0.66;SB=1.99 GT:AD:DP:GL:GQ 0/1:277,45:41:-37.01,-12.35,-108.15:99 -chr1 2573345 . A C 1425.86 DPFilter;HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=338;Dels=0.02;HRun=3;HaplotypeScore=632.90;MQ=20.26;MQ0=48;QD=4.22;SB=-172.79 GT:AD:DP:GL:GQ 0/1:132,186:90:-176.25,-30.38,-146.77:99 -chr1 2573350 . T C 293.04 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=399;Dels=0.00;HRun=0;HaplotypeScore=691.94;MQ=19.84;MQ0=54;QD=0.73;SB=44.71 GT:AD:DP:GL:GQ 0/1:277,71:78:-104.74,-72.15,-238.43:99 -chr1 2573354 . C A 62.42 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=432;Dels=0.00;HRun=1;HaplotypeScore=848.73;MQ=19.94;MQ0=56;QD=0.14;SB=50.16 GT:AD:DP:GL:GQ 0/1:379,40:51:-24.89,-15.36,-155.69:95.25 -chr1 2573358 . T C 129.61 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=457;Dels=0.00;HRun=1;HaplotypeScore=683.78;MQ=19.93;MQ0=58;QD=0.28;SB=-34.65 GT:AD:DP:GL:GQ 0/1:367,56:52:-42.68,-26.43,-169.09:99 -chr1 2573364 rs55738582 C G 575.47 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=473;Dels=0.00;HRun=1;HaplotypeScore=961.37;MQ=19.71;MQ0=62;QD=1.22;SB=-67.52 GT:AD:DP:GL:GQ 0/1:411,23:43:-73.79,-12.96,-105.12:99 -chr1 2573370 rs55790383 G A 775.08 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=470;Dels=0.00;HRun=1;HaplotypeScore=917.62;MQ=19.72;MQ0=61;QD=1.65;SB=-367.90 GT:AD:DP:GL:GQ 0/1:265,173:48:-98.76,-17.97,-89.48:99 -chr1 2573371 rs55657722 G C 3489.08 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=470;Dels=0.00;HRun=0;HaplotypeScore=944.58;MQ=19.72;MQ0=61;QD=7.42;SB=-1002.13 GT:AD:DP:GL:GQ 1/1:47,398:84:-347.91,-28.85,-3.68:99 -chr1 2573372 . A G 46.25 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=482;Dels=0.00;HRun=2;HaplotypeScore=999.26;MQ=19.79;MQ0=62;QD=0.10;SB=26.11 GT:AD:DP:GL:GQ 0/1:425,48:54:-24.18,-16.27,-184.96:79.08 -chr1 2573374 . C A 193.31 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=490;Dels=0.00;HRun=1;HaplotypeScore=979.59;MQ=19.99;MQ0=60;QD=0.39;SB=-75.64 GT:AD:DP:GL:GQ 0/1:438,45:65:-48.93,-26.32,-189.47:99 -chr1 2573382 . C A 261.06 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=502;Dels=0.01;HRun=1;HaplotypeScore=946.29;MQ=19.95;MQ0=64;QD=0.52;SB=17.04 GT:AD:DP:GL:GQ 0/1:391,72:71:-67.99,-38.60,-197.52:99 -chr1 2573383 . C G 55.13 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=502;Dels=0.00;HRun=0;HaplotypeScore=899.21;MQ=20.04;MQ0=63;QD=0.11;SB=37.79 GT:AD:DP:GL:GQ 0/1:438,33:65:-35.38,-26.59,-240.37:87.97 -chr1 2573385 . C A 145.75 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=503;Dels=0.00;HRun=0;HaplotypeScore=828.45;MQ=20.02;MQ0=64;QD=0.29;SB=-23.06 GT:AD:DP:GL:GQ 0/1:432,48:49:-35.99,-18.13,-141.74:99 -chr1 2573390 . T C 166.49 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=483;Dels=0.01;HRun=0;HaplotypeScore=660.44;MQ=20.15;MQ0=61;QD=0.34;SB=-43.82 GT:AD:DP:GL:GQ 0/1:342,96:43:-35.67,-15.74,-120.66:99 -chr1 2573404 rs56352113 A C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=412;Dels=0.00;HRun=1;HaplotypeScore=785.14;MQ=20.24;MQ0=50;OQ=1746.05;QD=4.24;SB=-272.76 GT:AD:DP:GL:GQ 1/1:48,316:72:-242.08,-66.55,-63.89:26.61 -chr1 2573410 rs12759490 A G 148.65 DPFilter;HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DB;DP=383;Dels=0.00;HRun=0;HaplotypeScore=682.21;MQ=20.35;MQ0=44;QD=0.39;SB=-43.26 GT:AD:DP:GL:GQ 0/1:276,96:57:-35.34,-17.19,-178.84:99 -chr1 2573423 . C A 163.64 DPFilter;HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=284;Dels=0.00;HRun=1;HaplotypeScore=927.03;MQ=21.34;MQ0=33;QD=0.58;SB=26.07 GT:AD:DP:GL:GQ 0/1:224,38:48:-34.11,-14.46,-128.40:99 -chr1 2573426 . C A 487.43 DPFilter;HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=275;Dels=0.00;HRun=0;HaplotypeScore=598.86;MQ=21.74;MQ0=31;QD=1.77;SB=-144.61 GT:AD:DP:GL:GQ 0/1:229,39:67:-72.21,-20.18,-167.89:99 -chr1 2573431 . T A 55.01 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=244;Dels=0.00;HRun=0;HaplotypeScore=414.88;MQ=22.20;MQ0=23;QD=0.23;SB=-37.64 GT:AD:DP:GL:GQ 0/1:198,17:62:-42.64,-33.85,-190.83:87.85 -chr1 2573439 rs12738268 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=199;Dels=0.00;HRun=0;HaplotypeScore=197.41;MQ=23.56;MQ0=17;OQ=1379.28;QD=6.93;SB=-473.52 GT:AD:DP:GL:GQ 0/1:75,107:51:-156.58,-15.37,-36.65:99 -chr1 2573442 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=194;Dels=0.00;HRun=0;HaplotypeScore=181.20;MQ=23.67;MQ0=14;OQ=103.36;QD=0.53;SB=32.13 GT:AD:DP:GL:GQ 0/1:179,11:55:-39.39,-25.77,-162.27:99 -chr1 2573451 . A G 329.45 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=156;Dels=0.00;HRun=0;HaplotypeScore=168.85;MQ=25.71;MQ0=9;QD=2.11;SB=-36.23 GT:AD:DP:GL:GQ 0/1:80,76:54:-52.50,-16.27,-154.97:99 -chr1 2573454 rs55760918 C G 556.39 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=140;Dels=0.00;HRun=0;HaplotypeScore=206.74;MQ=26.90;MQ0=8;QD=3.97;SB=-52.80 GT:AD:DP:GL:GQ 0/1:46,88:51:-74.30,-15.38,-138.45:99 -chr1 2573455 rs56258540 A C 134.39 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=145;Dels=0.00;HRun=1;HaplotypeScore=218.70;MQ=26.73;MQ0=9;QD=0.93;SB=-34.89 GT:AD:DP:GL:GQ 0/1:91,52:51:-34.62,-17.90,-142.52:99 -chr1 2573485 rs55714819 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=241;Dels=0.00;HRun=1;HaplotypeScore=172.11;MQ=27.92;MQ0=9;OQ=766.38;QD=3.18;SB=-61.60 GT:AD:DP:GL:GQ 0/1:152,84:106:-115.24,-35.32,-271.38:99 -chr1 2573510 rs61765777 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=332;Dels=0.00;HRun=1;HaplotypeScore=336.11;MQ=27.14;MQ0=14;OQ=2271.13;QD=6.84;SB=-383.23 GT:AD:DP:GL:GQ 0/1:103,229:130:-269.56,-39.16,-232.28:99 -chr1 2573523 . C T 271.88 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=476;Dels=0.00;HRun=0;HaplotypeScore=388.59;MQ=26.03;MQ0=25;QD=0.57;SB=-54.44 GT:AD:DP:GL:GQ 0/1:421,51:171:-82.00,-51.53,-495.80:99 -chr1 2573524 . G A 673.59 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=489;Dels=0.00;HRun=0;HaplotypeScore=381.72;MQ=26.07;MQ0=26;QD=1.38;SB=-235.66 GT:AD:DP:GL:GQ 0/1:348,136:174:-123.14,-52.50,-452.42:99 -chr1 2573532 . A G 266.78 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=584;Dels=0.00;HRun=0;HaplotypeScore=454.81;MQ=26.29;MQ0=38;QD=0.46;SB=-50.09 GT:AD:DP:GL:GQ 0/1:462,118:225:-100.76,-70.80,-803.69:99 -chr1 2573533 . C T 518.62 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=590;Dels=0.00;HRun=0;HaplotypeScore=454.86;MQ=26.25;MQ0=38;QD=0.88;SB=-177.22 GT:AD:DP:GL:GQ 0/1:555,34:221:-123.94,-68.80,-639.87:99 -chr1 2573545 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=760;Dels=0.00;HRun=0;HaplotypeScore=554.01;MQ=25.28;MQ0=58;OQ=2752.41;QD=3.62;SB=-334.08 GT:AD:DP:GL:GQ 0/1:504,247:275:-368.19,-89.67,-758.94:99 -chr1 2573551 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=816;Dels=0.00;HRun=0;HaplotypeScore=706.82;MQ=24.77;MQ0=61;OQ=92.57;QD=0.11;SB=99.33 GT:AD:DP:GL:GQ 0/1:767,48:306:-104.74,-92.20,-1021.89:99 -chr1 2573560 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=935;Dels=0.00;HRun=0;HaplotypeScore=771.90;MQ=24.19;MQ0=82;OQ=1354.07;QD=1.45;SB=-436.68 GT:AD:DP:GL:GQ 0/1:723,199:339:-248.95,-110.26,-942.99:99 -chr1 2573563 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=967;Dels=0.00;HRun=0;HaplotypeScore=867.36;MQ=23.97;MQ0=86;OQ=1389.93;QD=1.44;SB=161.22 GT:AD:DP:GL:GQ 0/1:819,137:345:-262.46,-120.18,-962.42:99 -chr1 2573572 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1012;Dels=0.00;HRun=0;HaplotypeScore=731.51;MQ=23.62;MQ0=98;OQ=634.63;QD=0.63;SB=-79.47 GT:AD:DP:GL:GQ 0/1:773,210:334:-172.80,-106.05,-1139.69:99 -chr1 2573600 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=878;Dels=0.00;HRun=0;HaplotypeScore=653.71;MQ=23.12;MQ0=120;OQ=1122.68;QD=1.28;SB=-567.08 GT:AD:DP:GL:GQ 0/1:678,154:296:-246.10,-130.55,-807.07:99 -chr1 2573603 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=862;Dels=0.00;HRun=0;HaplotypeScore=618.67;MQ=23.10;MQ0=123;OQ=316.50;QD=0.37;SB=-169.71 GT:AD:DP:GL:GQ 0/1:783,67:305:-136.37,-101.44,-918.41:99 -chr1 2573643 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=406;Dels=0.00;HRun=0;HaplotypeScore=240.70;MQ=22.59;MQ0=105;OQ=101.01;QD=0.25;SB=40.47 GT:AD:DP:GL:GQ 0/1:341,64:133:-53.47,-40.09,-445.02:99 -chr1 2573645 . T G 27.32 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=393;Dels=0.00;HRun=0;HaplotypeScore=214.15;MQ=22.61;MQ0=102;QD=0.07;SB=22.12 GT:AD:DP:GL:GQ 0/1:333,60:125:-43.68,-37.67,-396.83:60.15 -chr1 2573659 rs28581291 G C 4615.63 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=333;Dels=0.00;HRun=1;HaplotypeScore=205.79;MQ=24.13;MQ0=78;QD=13.86;SB=-1212.00 GT:AD:DP:GL:GQ 0/1:35,294:132:-460.56,-39.52,-82.06:99 -chr1 2573662 . C T 559.05 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=354;Dels=0.00;HRun=0;HaplotypeScore=280.21;MQ=24.11;MQ0=79;QD=1.58;SB=-274.91 GT:AD:DP:GL:GQ 0/1:309,45:145:-102.89,-43.70,-398.94:99 -chr1 2573665 . C G 1510.34 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=408;Dels=0.00;HRun=0;HaplotypeScore=325.78;MQ=24.58;MQ0=76;QD=3.70;SB=-297.94 GT:AD:DP:GL:GQ 0/1:264,141:179:-211.73,-57.41,-536.45:99 -chr1 2573688 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=651;Dels=0.00;HRun=2;HaplotypeScore=395.85;MQ=24.99;MQ0=65;OQ=362.26;QD=0.56;SB=-155.57 GT:AD:DP:GL:GQ 0/1:581,65:307:-140.30,-100.79,-1081.14:99 -chr1 2573689 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=665;Dels=0.00;HRun=0;HaplotypeScore=525.06;MQ=24.91;MQ0=65;OQ=1827.67;QD=2.75;SB=-517.28 GT:AD:DP:GL:GQ 0/1:550,112:319:-282.15,-96.10,-903.12:99 -chr1 2573699 rs28514305 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=700;Dels=0.00;HRun=1;HaplotypeScore=627.89;MQ=25.13;MQ0=51;OQ=504.00;QD=0.72;SB=-50.28 GT:AD:DP:GL:GQ 0/1:553,135:325:-164.84,-111.15,-1100.31:99 -chr1 2573722 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=939;Dels=0.00;HRun=0;HaplotypeScore=511.14;MQ=24.55;MQ0=41;OQ=652.05;QD=0.69;SB=-156.78 GT:AD:DP:GL:GQ 0/1:833,100:448:-203.46,-134.97,-1376.56:99 -chr1 2573743 . C A 1376.46 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=920;Dels=0.01;HRun=1;HaplotypeScore=1049.31;MQ=24.03;MQ0=45;QD=1.50;SB=-654.94 GT:AD:DP:GL:GQ 0/1:771,125:393:-273.72,-132.79,-1119.66:99 -chr1 2573744 . C A 2246.36 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=920;Dels=0.00;HRun=0;HaplotypeScore=1100.48;MQ=24.05;MQ0=45;QD=2.44;SB=-774.39 GT:AD:DP:GL:GQ 0/1:696,198:389:-363.03,-135.11,-1033.83:99 -chr1 2573747 . C T 2541.21 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=900;Dels=0.00;HRun=0;HaplotypeScore=1014.50;MQ=23.93;MQ0=43;QD=2.82;SB=-593.64 GT:AD:DP:GL:GQ 0/1:671,157:361:-422.27,-164.86,-953.11:99 -chr1 2573753 . A T 936.20 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=863;Dels=0.00;HRun=0;HaplotypeScore=1289.29;MQ=23.50;MQ0=46;QD=1.08;SB=-444.50 GT:AD:DP:GL:GQ 0/1:735,98:311:-195.18,-98.28,-961.18:99 -chr1 2573759 . C T 306.11 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=786;Dels=0.00;HRun=0;HaplotypeScore=944.88;MQ=23.40;MQ0=46;QD=0.39;SB=80.59 GT:AD:DP:GL:GQ 0/1:568,186:262:-146.29,-112.39,-779.46:99 -chr1 2573762 . C T 1224.46 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=751;Dels=0.00;HRun=0;HaplotypeScore=1008.25;MQ=23.38;MQ0=43;QD=1.63;SB=32.31 GT:AD:DP:GL:GQ 0/1:549,181:260:-207.81,-82.08,-705.47:99 -chr1 2573768 . G A 69.35 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=690;Dels=0.00;HRun=0;HaplotypeScore=1128.47;MQ=23.25;MQ0=39;QD=0.10;SB=181.10 GT:AD:DP:GL:GQ 0/1:645,45:222:-77.09,-66.88,-732.33:99 -chr1 2573775 rs61765778 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=598;Dels=0.00;HRun=0;HaplotypeScore=829.09;MQ=23.11;MQ0=35;OQ=51.56;QD=0.09;SB=-51.39 GT:AD:DP:GL:GQ 0/1:411,178:176:-78.89,-70.45,-552.62:84.40 -chr1 2573784 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=482;Dels=0.00;HRun=0;HaplotypeScore=533.05;MQ=23.86;MQ0=35;OQ=97.06;QD=0.20;SB=-41.06 GT:AD:DP:GL:GQ 0/1:428,39:135:-57.53,-44.54,-428.93:99 -chr1 2573791 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=376;Dels=0.00;HRun=0;HaplotypeScore=279.62;MQ=25.08;MQ0=23;OQ=809.10;QD=2.15;SB=-122.99 GT:AD:DP:GL:GQ 0/1:249,119:103:-122.37,-38.18,-240.78:99 -chr1 2573803 rs61765779 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=238;Dels=0.00;HRun=0;HaplotypeScore=273.29;MQ=27.85;MQ0=11;OQ=738.52;QD=3.10;SB=-305.23 GT:AD:DP:GL:GQ 0/1:82,152:68:-97.64,-20.50,-141.62:99 -chr1 2573809 rs61765805 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=171;Dels=0.00;HRun=1;HaplotypeScore=207.51;MQ=30.86;MQ0=7;OQ=486.71;QD=2.85;SB=-123.47 GT:AD:DP:GL:GQ 0/1:47,107:55:-75.59,-23.64,-159.88:99 -chr1 2573825 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=103;Dels=0.04;HRun=2;HaplotypeScore=133.51;MQ=37.12;MQ0=1;OQ=152.18;QD=1.48;SB=68.24 GT:AD:DP:GL:GQ 0/1:42,51:50:-47.81,-29.31,-160.18:99 -chr1 2573831 rs55855140 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=126.91;MQ=39.65;MQ0=1;OQ=158.89;QD=1.62;SB=62.19 GT:AD:DP:GL:GQ 0/1:53,43:46:-39.96,-20.79,-124.08:99 -chr1 2573842 . A C 115.63 SnpCluster AC=1;AF=0.50;AN=2;DP=99;Dels=0.00;HRun=0;HaplotypeScore=142.04;MQ=40.93;MQ0=1;QD=1.17;SB=-71.86 GT:AD:DP:GL:GQ 0/1:45,45:51:-30.22,-15.37,-141.99:99 -chr1 2573846 rs61765806 C G 427.99 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=128;Dels=0.00;HRun=0;HaplotypeScore=158.02;MQ=39.65;MQ0=2;QD=3.34;SB=50.19 GT:AD:DP:GL:GQ 0/1:94,33:65:-65.70,-19.61,-201.59:99 -chr1 2573851 . G A 820.83 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=140;Dels=0.00;HRun=1;HaplotypeScore=122.19;MQ=40.52;MQ0=2;QD=5.86;SB=-152.15 GT:AD:DP:GL:GQ 0/1:66,72:74:-107.66,-22.30,-166.53:99 -chr1 2573859 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=159;Dels=0.00;HRun=0;HaplotypeScore=126.84;MQ=40.41;MQ0=2;OQ=121.72;QD=0.77;SB=152.53 GT:AD:DP:GL:GQ 0/1:122,36:93:-43.49,-28.03,-346.24:99 -chr1 2573901 rs35515286 G C 550.86 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=206;Dels=0.00;HRun=0;HaplotypeScore=105.96;MQ=43.03;MQ0=1;QD=2.67;SB=237.50 GT:AD:DP:GL:GQ 0/1:135,63:142:-119.31,-60.94,-520.06:99 -chr1 2573904 . G C 824.37 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=204;Dels=0.00;HRun=3;HaplotypeScore=109.03;MQ=42.87;MQ0=2;QD=4.04;SB=193.35 GT:AD:DP:GL:GQ 0/1:129,71:137:-131.62,-45.90,-468.47:99 -chr1 2573907 . C T 232.33 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=234;Dels=0.00;HRun=0;HaplotypeScore=169.38;MQ=41.15;MQ0=2;QD=0.99;SB=246.29 GT:AD:DP:GL:GQ 0/1:198,35:151:-72.01,-45.49,-466.42:99 -chr1 2573937 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=313;Dels=0.00;HRun=2;HaplotypeScore=156.05;MQ=41.48;MQ0=6;OQ=610.21;QD=1.95;SB=184.28 GT:AD:DP:GL:GQ 0/1:179,131:178:-121.09,-56.78,-561.52:99 -chr1 2573955 rs4648664 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=309;Dels=0.01;HRun=0;HaplotypeScore=189.00;MQ=39.75;MQ0=9;OQ=5144.30;QD=16.65;SB=-1373.56 GT:AD:DP:GL:GQ 0/1:99,207:204:-513.43,-64.42,-219.84:99 -chr1 2573957 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=309;Dels=0.00;HRun=0;HaplotypeScore=210.03;MQ=39.51;MQ0=9;OQ=1411.76;QD=4.57;SB=186.52 GT:AD:DP:GL:GQ 0/1:164,144:192:-204.89,-60.43,-482.07:99 -chr1 2573977 rs36074084 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=329;Dels=0.14;HRun=3;HaplotypeScore=420.13;MQ=34.94;MQ0=9;OQ=1855.95;QD=5.64;SB=145.19 GT:AD:DP:GL:GQ 0/1:152,125:193:-244.66,-55.78,-561.08:99 -chr1 2573987 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=436;Dels=0.02;HRun=3;HaplotypeScore=523.62;MQ=29.87;MQ0=18;OQ=97.02;QD=0.22;SB=235.20 GT:AD:DP:GL:GQ 0/1:315,109:216:-76.87,-63.88,-657.84:99 -chr1 2574006 rs56001931 C A 193.50 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=578;Dels=0.00;HRun=0;HaplotypeScore=796.32;MQ=26.82;MQ0=27;QD=0.33;SB=-95.26 GT:AD:DP:GL:GQ 0/1:506,46:197:-84.56,-61.92,-620.37:99 -chr1 2574010 . G A 47.43 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=576;Dels=0.00;HRun=1;HaplotypeScore=936.31;MQ=26.86;MQ0=27;QD=0.08;SB=305.98 GT:AD:DP:GL:GQ 0/1:514,37:196:-70.15,-62.12,-641.00:80.27 -chr1 2574012 . G A 1112.09 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=567;Dels=0.00;HRun=1;HaplotypeScore=881.66;MQ=26.70;MQ0=27;QD=1.96;SB=173.94 GT:AD:DP:GL:GQ 0/1:337,218:205:-176.25,-61.76,-573.77:99 -chr1 2574013 rs35375421 G C 2739.83 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=556;Dels=0.00;HRun=0;HaplotypeScore=907.42;MQ=26.74;MQ0=27;QD=4.93;SB=-98.82 GT:AD:DP:GL:GQ 0/1:185,358:186:-340.69,-63.42,-477.87:99 -chr1 2574046 rs61765808 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=633;Dels=0.00;HRun=1;HaplotypeScore=769.62;MQ=25.77;MQ0=33;OQ=2369.47;QD=3.74;SB=-14.31 GT:AD:DP:GL:GQ 0/1:214,394:219:-332.81,-92.58,-459.77:99 -chr1 2574062 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=571;Dels=0.02;HRun=0;HaplotypeScore=1395.05;MQ=27.31;MQ0=25;OQ=270.74;QD=0.47;SB=9.21 GT:AD:DP:GL:GQ 0/1:393,159:156:-79.45,-49.09,-466.84:99 -chr1 2574081 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=574;Dels=0.00;HRun=0;HaplotypeScore=636.02;MQ=28.62;MQ0=23;OQ=102.79;QD=0.18;SB=258.30 GT:AD:DP:GL:GQ 0/1:339,178:156:-99.87,-86.31,-482.50:99 -chr1 2574099 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=481;Dels=0.01;HRun=2;HaplotypeScore=469.12;MQ=32.08;MQ0=15;OQ=332.15;QD=0.69;SB=-15.43 GT:AD:DP:GL:GQ 0/1:184,278:155:-88.85,-52.35,-456.19:99 -chr1 2574112 rs4648665 A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=407;Dels=0.00;HRun=1;HaplotypeScore=376.40;MQ=32.86;MQ0=13;OQ=5520.38;QD=13.56;SB=-1708.96 GT:AD:DP:GL:GQ 1/1:7,385:151:-551.04,-45.49,-0.05:99 -chr1 2574233 rs6678571 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=482;Dels=0.00;HRun=0;HaplotypeScore=317.44;MQ=37.14;MQ0=103;OQ=51.18;QD=0.11;SB=33.13 GT:AD:DP:GL:GQ 0/1:400,76:222:-75.35,-66.94,-654.61:84.02 -chr1 2574280 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=411;Dels=0.00;HRun=0;HaplotypeScore=206.24;MQ=40.63;MQ0=25;OQ=702.83;QD=1.71;SB=165.25 GT:AD:DP:GL:GQ 0/1:262,145:248:-148.35,-74.78,-882.77:99 -chr1 2574370 rs56005609 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=224;Dels=0.00;HRun=0;HaplotypeScore=51.47;MQ=47.47;MQ0=12;OQ=160.10;QD=0.71;SB=-105.06 GT:AD:DP:GL:GQ 0/1:203,21:172:-71.19,-51.89,-483.26:99 -chr1 2574383 rs4648666 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=215;Dels=0.00;HRun=0;HaplotypeScore=154.22;MQ=48.52;MQ0=8;OQ=4531.65;QD=21.08;SB=-1293.59 GT:AD:DP:GL:GQ 0/1:45,169:169:-452.16,-50.92,-131.50:99 -chr1 2574398 rs4648667 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=297;Dels=0.00;HRun=0;HaplotypeScore=177.69;MQ=43.72;MQ0=17;OQ=1775.91;QD=5.98;SB=-869.96 GT:AD:DP:GL:GQ 0/1:211,86:190:-238.16,-57.29,-446.26:99 -chr1 2574435 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=784;Dels=0.00;HRun=0;HaplotypeScore=476.42;MQ=30.94;MQ0=61;OQ=552.66;QD=0.70;SB=-126.39 GT:AD:DP:GL:GQ 0/1:497,287:235:-129.39,-70.84,-631.70:99 -chr1 2574468 . A C 45.91 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=925;Dels=0.00;HRun=3;HaplotypeScore=499.34;MQ=30.78;MQ0=79;QD=0.05;SB=344.95 GT:AD:DP:GL:GQ 0/1:799,98:301:-105.40,-97.53,-960.73:78.74 -chr1 2574499 . C A 22.95 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=665;Dels=0.00;HRun=2;HaplotypeScore=681.86;MQ=36.15;MQ0=63;QD=0.03;SB=89.36 GT:AD:DP:GL:GQ 0/1:533,92:270:-145.98,-140.40,-853.73:55.76 -chr1 2574516 rs61765812 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=416;Dels=0.00;HRun=0;HaplotypeScore=217.32;MQ=43.57;MQ0=35;OQ=129.59;QD=0.31;SB=68.68 GT:AD:DP:GL:GQ 0/1:278,133:243:-89.48,-73.24,-851.13:99 -chr1 2574566 rs28558799 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=282;Dels=0.00;HRun=0;HaplotypeScore=119.44;MQ=43.46;MQ0=13;OQ=5625.16;QD=19.95;SB=-2459.11 GT:AD:DP:GL:GQ 0/1:49,230:200:-561.52,-60.25,-174.15:99 -chr1 2574594 rs56062029 T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=452;Dels=0.00;HRun=2;HaplotypeScore=294.75;MQ=33.13;MQ0=30;OQ=1117.30;QD=2.47;SB=-453.09 GT:AD:DP:GL:GQ 0/1:369,56:211:-181.97,-66.96,-565.43:99 -chr1 2574621 rs57267388 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=571;Dels=0.00;HRun=0;HaplotypeScore=771.91;MQ=31.23;MQ0=33;OQ=342.14;QD=0.60;SB=-185.77 GT:AD:DP:GL:GQ 0/1:283,102:222:-153.52,-116.02,-729.22:99 -chr1 2574649 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=993;Dels=0.00;HRun=0;HaplotypeScore=693.61;MQ=28.27;MQ0=75;OQ=1079.32;QD=1.09;SB=-556.01 GT:AD:DP:GL:GQ 0/1:844,137:401:-235.64,-124.42,-1471.20:99 -chr1 2574659 . A C 29.66 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=980;Dels=0.00;HRun=3;HaplotypeScore=948.25;MQ=27.73;MQ0=79;QD=0.03;SB=242.38 GT:AD:DP:GL:GQ 0/1:842,123:385:-128.64,-122.39,-1217.71:62.50 -chr1 2574737 rs61765814 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=400;Dels=0.00;HRun=0;HaplotypeScore=203.09;MQ=41.26;MQ0=24;OQ=736.68;QD=1.84;SB=-0.60 GT:AD:DP:GL:GQ 0/1:202,185:205:-145.42,-68.47,-717.91:99 -chr1 2574757 rs61765815 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=370;Dels=0.00;HRun=0;HaplotypeScore=249.27;MQ=42.55;MQ0=25;OQ=384.28;QD=1.04;SB=73.46 GT:AD:DP:GL:GQ 0/1:205,136:201:-108.67,-66.96,-637.57:99 -chr1 2574806 rs61765816 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=433;Dels=0.00;HRun=0;HaplotypeScore=271.20;MQ=41.78;MQ0=23;OQ=447.69;QD=1.03;SB=-108.45 GT:AD:DP:GL:GQ 0/1:271,156:236:-119.20,-71.14,-762.60:99 -chr1 2574851 rs6691639 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=333;Dels=0.00;HRun=0;HaplotypeScore=216.92;MQ=45.13;MQ0=5;OQ=7151.39;QD=21.48;SB=-2958.67 GT:AD:DP:GL:GQ 0/1:25,306:212:-714.14,-63.86,-81.27:99 -chr1 2574904 rs6604990 T C 6413.62 DPFilter;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=427;Dels=0.06;HRun=3;HaplotypeScore=563.84;MQ=34.54;MQ0=9;QD=15.02;SB=-2045.14 GT:AD:DP:GL:GQ 1/1:119,272:189:-640.36,-56.34,-15.02:99 -chr1 2574911 . A C 149.58 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=456;Dels=0.00;HRun=3;HaplotypeScore=557.08;MQ=32.46;MQ0=11;QD=0.33;SB=-79.57 GT:AD:DP:GL:GQ 0/1:298,141:171:-69.76,-51.52,-530.42:99 -chr1 2574914 . A G 786.99 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=464;Dels=0.02;HRun=1;HaplotypeScore=590.68;MQ=31.99;MQ0=11;QD=1.70;SB=-166.87 GT:AD:DP:GL:GQ 0/1:189,264:184:-140.25,-58.27,-581.91:99 -chr1 2574924 rs61765818 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=562;Dels=0.00;HRun=1;HaplotypeScore=584.85;MQ=29.44;MQ0=16;OQ=664.13;QD=1.18;SB=-72.04 GT:AD:DP:GL:GQ 0/1:412,132:178:-126.09,-56.39,-566.98:99 -chr1 2574942 rs60506177 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=681;Dels=0.00;HRun=2;HaplotypeScore=1240.22;MQ=29.22;MQ0=28;OQ=4364.77;QD=6.41;SB=-1487.53 GT:AD:DP:GL:GQ 0/1:160,495:256:-435.48,-89.03,-503.32:99 -chr1 2574956 rs59191334 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=906;Dels=0.00;HRun=0;HaplotypeScore=851.71;MQ=29.72;MQ0=44;OQ=1149.69;QD=1.27;SB=-284.23 GT:AD:DP:GL:GQ 0/1:632,252:274:-200.91,-82.66,-713.01:99 -chr1 2574986 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=944;Dels=0.00;HRun=1;HaplotypeScore=1818.61;MQ=31.01;MQ0=59;OQ=1122.41;QD=1.19;SB=-398.32 GT:AD:DP:GL:GQ 0/1:745,146:351:-246.18,-130.65,-980.48:99 -chr1 2575019 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=719;Dels=0.00;HRun=0;HaplotypeScore=472.84;MQ=36.86;MQ0=62;OQ=2013.75;QD=2.80;SB=-548.67 GT:AD:DP:GL:GQ 0/1:509,205:351:-310.40,-105.75,-919.85:99 -chr1 2575034 rs61763547 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=646;Dels=0.00;HRun=1;HaplotypeScore=246.19;MQ=38.01;MQ0=57;OQ=1218.08;QD=1.89;SB=297.56 GT:AD:DP:GL:GQ 0/1:304,285:351:-300.74,-175.64,-1150.43:99 -chr1 2575068 . C G 824.18 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=841;Dels=0.00;HRun=0;HaplotypeScore=834.43;MQ=32.24;MQ0=93;QD=0.98;SB=69.34 GT:AD:DP:GL:GQ 0/1:592,151:395:-352.89,-267.19,-1451.52:99 -chr1 2575069 rs11510858 C A 2054.73 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=851;Dels=0.00;HRun=0;HaplotypeScore=833.69;MQ=32.03;MQ0=94;QD=2.41;SB=-732.04 GT:AD:DP:GL:GQ 0/1:701,130:386:-337.44,-128.68,-1037.66:99 -chr1 2575076 . C G 56.74 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=869;Dels=0.00;HRun=2;HaplotypeScore=716.58;MQ=31.37;MQ0=95;QD=0.07;SB=276.82 GT:AD:DP:GL:GQ 0/1:773,41:392:-146.00,-137.04,-1458.73:89.57 -chr1 2575191 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=619;Dels=0.01;HRun=3;HaplotypeScore=666.18;MQ=32.68;MQ0=22;OQ=1037.47;QD=1.68;SB=-98.59 GT:AD:DP:GL:GQ 0/1:385,224:265:-186.87,-79.84,-734.84:99 -chr1 2575196 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=669;Dels=0.00;HRun=0;HaplotypeScore=585.81;MQ=31.95;MQ0=25;OQ=410.40;QD=0.61;SB=138.71 GT:AD:DP:GL:GQ 0/1:518,139:278:-128.14,-83.81,-902.17:99 -chr1 2575224 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=936;Dels=0.00;HRun=0;HaplotypeScore=711.05;MQ=30.70;MQ0=52;OQ=206.48;QD=0.22;SB=16.18 GT:AD:DP:GL:GQ 0/1:817,101:399:-165.30,-141.37,-1545.34:99 -chr1 2575246 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=981;Dels=0.00;HRun=1;HaplotypeScore=733.47;MQ=31.11;MQ0=67;OQ=1892.73;QD=1.93;SB=-760.65 GT:AD:DP:GL:GQ 0/1:771,204:430:-322.12,-129.56,-1274.76:99 -chr1 2575261 rs6692051 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=945;Dels=0.00;HRun=3;HaplotypeScore=358.84;MQ=32.03;MQ0=68;OQ=2338.43;QD=2.47;SB=-661.83 GT:AD:DP:GL:GQ 0/1:802,142:427:-365.78,-128.65,-1131.84:99 -chr1 2575299 . G T 161.49 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=614;Dels=0.00;HRun=1;HaplotypeScore=591.39;MQ=37.63;MQ0=50;QD=0.26;SB=20.79 GT:AD:DP:GL:GQ 0/1:494,69:362:-227.05,-207.62,-1136.93:99 -chr1 2575300 rs61765821 T C 1192.57 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=603;Dels=0.00;HRun=0;HaplotypeScore=567.88;MQ=38.04;MQ0=47;QD=1.98;SB=-535.85 GT:AD:DP:GL:GQ 0/1:348,222:348:-246.80,-124.26,-1045.28:99 -chr1 2575308 . C A 283.33 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=591;Dels=0.00;HRun=1;HaplotypeScore=502.16;MQ=39.21;MQ0=53;QD=0.48;SB=90.50 GT:AD:DP:GL:GQ 0/1:465,102:356:-142.06,-110.45,-1099.38:99 -chr1 2575350 rs28411086 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=541;Dels=0.00;HRun=2;HaplotypeScore=281.76;MQ=38.20;MQ0=48;OQ=2021.31;QD=3.74;SB=-545.18 GT:AD:DP:GL:GQ 0/1:247,291:277:-288.88,-83.46,-673.01:99 -chr1 2575391 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=992;Dels=0.00;HRun=2;HaplotypeScore=510.05;MQ=30.36;MQ0=68;OQ=227.39;QD=0.23;SB=145.08 GT:AD:DP:GL:GQ 0/1:854,132:434:-160.44,-134.42,-1359.22:99 -chr1 2575398 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1075;Dels=0.00;HRun=0;HaplotypeScore=310.34;MQ=30.19;MQ0=65;OQ=528.27;QD=0.49;SB=20.12 GT:AD:DP:GL:GQ 0/1:895,162:479:-203.83,-147.72,-1593.06:99 -chr1 2575422 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1315;Dels=0.00;HRun=1;HaplotypeScore=628.02;MQ=29.05;MQ0=70;OQ=417.47;QD=0.32;SB=307.23 GT:AD:DP:GL:GQ 0/1:1146,168:592:-223.40,-178.37,-1814.12:99 -chr1 2575443 rs6678990 C G 1968.81 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=1397;Dels=0.00;HRun=0;HaplotypeScore=834.10;MQ=29.41;MQ0=63;QD=1.41;SB=-880.90 GT:AD:DP:GL:GQ 0/1:1263,104:657:-428.32,-228.16,-2407.74:99 -chr1 2575448 . C T 306.07 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=1347;Dels=0.00;HRun=0;HaplotypeScore=969.72;MQ=29.55;MQ0=58;QD=0.23;SB=98.85 GT:AD:DP:GL:GQ 0/1:1166,127:596:-237.42,-203.53,-1765.67:99 -chr1 2575453 . G A 633.22 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=1324;Dels=0.01;HRun=0;HaplotypeScore=1094.28;MQ=29.55;MQ0=52;QD=0.48;SB=22.83 GT:AD:DP:GL:GQ 0/1:1098,210:631:-255.45,-188.85,-1774.06:99 -chr1 2575459 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1275;Dels=0.00;HRun=1;HaplotypeScore=976.35;MQ=29.72;MQ0=48;OQ=260.30;QD=0.20;SB=456.22 GT:AD:DP:GL:GQ 0/1:1186,88:626:-217.90,-188.59,-2068.65:99 -chr1 2575467 . A T 1827.05 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=1257;Dels=0.00;HRun=0;HaplotypeScore=1002.71;MQ=30.06;MQ0=39;QD=1.45;SB=-471.84 GT:AD:DP:GL:GQ 0/1:1025,208:608:-372.29,-186.30,-1881.69:99 -chr1 2575472 . C A 9687.38 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=1255;Dels=0.00;HRun=1;HaplotypeScore=858.65;MQ=30.07;MQ0=41;QD=7.72;SB=-1503.87 GT:AD:DP:GL:GQ 0/1:729,316:639:-967.74,-542.07,-1662.70:99 -chr1 2575476 rs28479903 C T 328.26 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=1232;Dels=0.00;HRun=0;HaplotypeScore=989.29;MQ=30.12;MQ0=43;QD=0.27;SB=122.56 GT:AD:DP:GL:GQ 0/1:1040,174:572:-219.19,-183.08,-1716.97:99 -chr1 2575484 rs61765822 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1214;Dels=0.00;HRun=0;HaplotypeScore=468.08;MQ=30.51;MQ0=43;OQ=1888.53;QD=1.56;SB=-874.96 GT:AD:DP:GL:GQ 0/1:984,212:602:-396.91,-204.77,-1679.64:99 -chr1 2575509 rs7367485 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1003;Dels=0.00;HRun=3;HaplotypeScore=708.39;MQ=31.59;MQ0=44;OQ=1317.31;QD=1.31;SB=-683.17 GT:AD:DP:GL:GQ 0/1:599,311:447:-397.20,-262.18,-1298.11:99 -chr1 2575527 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=899;Dels=0.00;HRun=1;HaplotypeScore=616.46;MQ=32.40;MQ0=36;OQ=2129.63;QD=2.37;SB=-658.87 GT:AD:DP:GL:GQ 0/1:666,188:432:-362.76,-146.52,-1154.94:99 -chr1 2575536 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=816;Dels=0.00;HRun=1;HaplotypeScore=629.02;MQ=33.06;MQ0=36;OQ=245.82;QD=0.30;SB=187.48 GT:AD:DP:GL:GQ 0/1:660,150:389:-147.61,-119.74,-1232.57:99 -chr1 2575553 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=672;Dels=0.00;HRun=0;HaplotypeScore=869.01;MQ=35.62;MQ0=23;OQ=1048.35;QD=1.56;SB=44.73 GT:AD:DP:GL:GQ 0/1:542,123:340:-220.20,-112.08,-1057.17:99 -chr1 2575577 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=529;Dels=0.00;HRun=0;HaplotypeScore=616.14;MQ=41.10;MQ0=11;OQ=295.55;QD=0.56;SB=93.12 GT:AD:DP:GL:GQ 0/1:363,155:340:-135.27,-102.43,-1079.29:99 -chr1 2575583 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=497;Dels=0.00;HRun=0;HaplotypeScore=739.15;MQ=41.67;MQ0=9;OQ=177.97;QD=0.36;SB=340.79 GT:AD:DP:GL:GQ 0/1:426,63:314:-122.58,-101.50,-1218.09:99 -chr1 2575632 rs6686754 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=363;Dels=0.00;HRun=1;HaplotypeScore=439.13;MQ=46.08;MQ0=4;OQ=7215.73;QD=19.88;SB=-2967.87 GT:AD:DP:GL:GQ 0/1:59,294:248:-720.57,-74.71,-189.55:99 -chr1 2575661 rs28498367 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=482;Dels=0.00;HRun=0;HaplotypeScore=598.03;MQ=41.57;MQ0=4;OQ=4453.10;QD=9.24;SB=-977.05 GT:AD:DP:GL:GQ 0/1:194,269:275:-444.31,-82.91,-730.02:99 -chr1 2575692 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=647;Dels=0.00;HRun=1;HaplotypeScore=594.08;MQ=36.97;MQ0=17;OQ=2155.18;QD=3.33;SB=272.10 GT:AD:DP:GL:GQ 0/1:259,365:295:-329.81,-111.01,-802.38:99 -chr1 2575711 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=667;Dels=0.00;HRun=3;HaplotypeScore=1191.59;MQ=36.49;MQ0=18;OQ=1467.43;QD=2.20;SB=-170.23 GT:AD:DP:GL:GQ 0/1:245,407:245:-231.00,-80.98,-619.30:99 -chr1 2575718 . C T 91.63 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=668;Dels=0.07;HRun=0;HaplotypeScore=726.36;MQ=36.74;MQ0=18;QD=0.14;SB=390.06 GT:AD:DP:GL:GQ 0/1:453,157:278:-93.88,-81.43,-798.07:99 -chr1 2575725 . C T 321.62 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=662;Dels=0.00;HRun=1;HaplotypeScore=724.85;MQ=36.17;MQ0=17;QD=0.49;SB=411.17 GT:AD:DP:GL:GQ 0/1:600,56:323:-132.74,-97.29,-1057.81:99 -chr1 2575728 . A T 148.72 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=660;Dels=0.00;HRun=0;HaplotypeScore=737.53;MQ=36.50;MQ0=17;QD=0.23;SB=417.37 GT:AD:DP:GL:GQ 0/1:600,48:321:-114.85,-96.69,-1096.48:99 -chr1 2575731 . G A 128.25 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=638;Dels=0.00;HRun=1;HaplotypeScore=523.34;MQ=37.45;MQ0=16;QD=0.20;SB=259.66 GT:AD:DP:GL:GQ 0/1:525,83:335:-143.82,-127.71,-1107.68:99 -chr1 2575750 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=473;Dels=0.00;HRun=1;HaplotypeScore=339.24;MQ=40.86;MQ0=6;OQ=314.90;QD=0.67;SB=-156.95 GT:AD:DP:GL:GQ 0/1:417,42:281:-123.25,-88.47,-781.88:99 -chr1 2575766 rs6694964 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=418;Dels=0.00;HRun=0;HaplotypeScore=190.54;MQ=43.00;MQ0=6;OQ=9217.59;QD=22.05;SB=-3555.11 GT:AD:DP:GL:GQ 0/1:33,383:267:-920.76,-80.43,-83.85:34.20 -chr1 2575784 rs28583924 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=426;Dels=0.00;HRun=0;HaplotypeScore=272.61;MQ=42.95;MQ0=8;OQ=181.28;QD=0.43;SB=6.29 GT:AD:DP:GL:GQ 0/1:359,64:257:-98.92,-77.51,-960.45:99 -chr1 2575825 rs6689281 T C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=557;Dels=0.01;HRun=2;HaplotypeScore=469.61;MQ=35.81;MQ0=25;OQ=9475.08;QD=17.01;SB=-3650.18 GT:AD:DP:GL:GQ 1/1:3,541:282:-946.51,-86.27,-2.51:99 -chr1 2575851 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=634;Dels=0.00;HRun=0;HaplotypeScore=686.59;MQ=33.18;MQ0=30;OQ=77.00;QD=0.12;SB=-18.66 GT:AD:DP:GL:GQ 0/1:437,151:251:-86.73,-75.75,-723.32:99 -chr1 2575861 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=670;Dels=0.00;HRun=0;HaplotypeScore=1084.95;MQ=32.16;MQ0=34;OQ=174.30;QD=0.26;SB=144.01 GT:AD:DP:GL:GQ 0/1:448,201:255:-97.68,-76.97,-707.97:99 -chr1 2575918 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=659;Dels=0.00;HRun=0;HaplotypeScore=602.10;MQ=33.55;MQ0=33;OQ=1205.47;QD=1.83;SB=-331.68 GT:AD:DP:GL:GQ 0/1:520,139:294:-212.43,-88.60,-836.61:99 -chr1 2575963 rs61765824 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=414;Dels=0.00;HRun=0;HaplotypeScore=225.65;MQ=45.71;MQ0=16;OQ=175.37;QD=0.42;SB=-3.54 GT:AD:DP:GL:GQ 0/1:256,154:262:-99.81,-78.99,-882.64:99 -chr1 2576027 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=375;Dels=0.00;HRun=0;HaplotypeScore=441.20;MQ=41.08;MQ0=22;OQ=359.44;QD=0.96;SB=-25.38 GT:AD:DP:GL:GQ 0/1:347,27:212:-103.15,-63.92,-790.76:99 -chr1 2576035 rs55917765 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=384;Dels=0.02;HRun=4;HaplotypeScore=406.51;MQ=41.42;MQ0=19;OQ=289.17;QD=0.75;SB=-132.89 GT:AD:DP:GL:GQ 0/1:212,141:214:-106.50,-74.30,-717.21:99 -chr1 2576075 rs57994724 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=300;Dels=0.03;HRun=4;HaplotypeScore=363.80;MQ=42.84;MQ0=2;OQ=76.42;QD=0.25;SB=-28.60 GT:AD:DP:GL:GQ 0/1:192,90:162:-61.96,-51.03,-580.93:99 -chr1 2576111 rs58221160 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=281;Dels=0.00;HRun=1;HaplotypeScore=182.21;MQ=43.93;MQ0=7;OQ=597.72;QD=2.13;SB=-221.46 GT:AD:DP:GL:GQ 0/1:232,45:207:-125.42,-62.37,-596.71:99 -chr1 2576240 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1159;Dels=0.00;HRun=0;HaplotypeScore=623.69;MQ=25.02;MQ0=69;OQ=409.78;QD=0.35;SB=-223.95 GT:AD:DP:GL:GQ 0/1:968,178:369:-162.51,-118.25,-1426.92:99 -chr1 2576263 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1066;Dels=0.00;HRun=1;HaplotypeScore=622.37;MQ=26.52;MQ0=59;OQ=159.54;QD=0.15;SB=19.45 GT:AD:DP:GL:GQ 0/1:984,81:387:-135.82,-116.58,-1209.01:99 -chr1 2576333 . C G 40.07 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=224;Dels=0.00;HRun=1;HaplotypeScore=154.83;MQ=40.65;MQ0=29;QD=0.18;SB=-8.93 GT:AD:DP:GL:GQ 0/1:181,32:158:-64.21,-56.92,-644.64:72.91 -chr1 2576335 . C T 1221.15 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=216;Dels=0.00;HRun=0;HaplotypeScore=167.65;MQ=40.55;MQ0=30;QD=5.65;SB=-581.17 GT:AD:DP:GL:GQ 0/1:122,94:144:-168.83,-43.43,-331.79:99 -chr1 2576336 rs28676518 G A 1105.16 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=214;Dels=0.00;HRun=0;HaplotypeScore=205.71;MQ=40.45;MQ0=30;QD=5.16;SB=-168.80 GT:AD:DP:GL:GQ 0/1:170,44:143:-156.87,-43.08,-364.02:99 -chr1 2576346 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=179;Dels=0.00;HRun=1;HaplotypeScore=74.98;MQ=40.01;MQ0=31;OQ=210.24;QD=1.17;SB=-126.34 GT:AD:DP:GL:GQ 0/1:138,41:111:-57.78,-33.47,-394.51:99 -chr1 2576366 rs61765835 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=158;Dels=0.00;HRun=0;HaplotypeScore=35.61;MQ=33.02;MQ0=57;OQ=96.35;QD=0.61;SB=-36.52 GT:AD:DP:GL:GQ 0/1:92,66:79:-36.73,-23.81,-255.03:99 -chr1 2576428 rs61765837 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=303;Dels=0.00;HRun=2;HaplotypeScore=260.74;MQ=16.89;MQ0=145;OQ=101.18;QD=0.33;SB=-66.11 GT:AD:DP:GL:GQ 0/1:155,144:52:-29.09,-15.69,-174.52:99 -chr1 2576448 rs61765838 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=595;Dels=0.00;HRun=0;HaplotypeScore=426.54;MQ=17.45;MQ0=199;OQ=372.66;QD=0.63;SB=-42.53 GT:AD:DP:GL:GQ 0/1:377,206:114:-74.98,-34.43,-280.80:99 -chr1 2576460 rs61765839 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=687;Dels=0.00;HRun=1;HaplotypeScore=471.75;MQ=17.40;MQ0=212;OQ=453.85;QD=0.66;SB=-3.98 GT:AD:DP:GL:GQ 0/1:511,164:138:-90.25,-41.59,-375.50:99 -chr1 2576472 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=774;Dels=0.03;HRun=1;HaplotypeScore=800.59;MQ=17.54;MQ0=228;OQ=234.98;QD=0.30;SB=-38.37 GT:AD:DP:GL:GQ 0/1:618,98:166:-76.78,-50.00,-493.07:99 -chr1 2576534 rs57105227 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=374;Dels=0.00;HRun=1;HaplotypeScore=347.91;MQ=18.87;MQ0=112;OQ=329.07;QD=0.88;SB=-154.80 GT:AD:DP:GL:GQ 0/1:156,198:111:-73.27,-37.08,-391.39:99 -chr1 2576577 rs4648668 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=122;Dels=0.00;HRun=1;HaplotypeScore=59.62;MQ=22.81;MQ0=26;OQ=851.22;QD=6.98;SB=10.08 GT:AD:DP:GL:GQ 0/1:55,66:69:-109.20,-20.79,-201.97:99 -chr1 2576600 rs4648566 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=135;Dels=0.00;HRun=1;HaplotypeScore=109.15;MQ=20.95;MQ0=39;OQ=455.68;QD=3.38;SB=83.24 GT:AD:DP:GL:GQ 0/1:105,30:52:-64.51,-15.66,-117.10:99 -chr1 2576616 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=143;Dels=0.00;HRun=0;HaplotypeScore=178.18;MQ=20.10;MQ0=38;OQ=374.43;QD=2.62;SB=-39.54 GT:AD:DP:GL:GQ 0/1:116,27:44:-54.00,-13.27,-93.80:99 -chr1 2576848 rs61765840 G T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=22.44;MQ=39.05;MQ0=35;OQ=52.46;QD=0.37;SB=-15.32 GT:AD:DP:GL:GQ 0/1:129,12:77:-31.72,-23.19,-231.93:85.30 -chr1 2577010 rs4648671 A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=239;Dels=0.00;HRun=0;HaplotypeScore=65.16;MQ=37.14;MQ0=12;OQ=5199.52;QD=21.76;SB=-2266.90 GT:AD:DP:GL:GQ 1/1:7,232:163:-518.95,-49.17,-3.73:99 -chr1 2577062 rs28507281 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=295;Dels=0.00;HRun=0;HaplotypeScore=78.67;MQ=40.58;MQ0=11;OQ=1143.65;QD=3.88;SB=-492.64 GT:AD:DP:GL:GQ 0/1:238,57:237:-189.11,-71.46,-605.04:99 -chr1 2577084 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=307;Dels=0.00;HRun=0;HaplotypeScore=72.39;MQ=39.59;MQ0=17;OQ=519.07;QD=1.69;SB=-15.56 GT:AD:DP:GL:GQ 0/1:259,48:248:-129.89,-74.70,-751.71:99 -chr1 2577123 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=291;Dels=0.00;HRun=1;HaplotypeScore=84.53;MQ=39.37;MQ0=26;OQ=265.40;QD=0.91;SB=-39.23 GT:AD:DP:GL:GQ 0/1:250,41:219:-95.80,-65.98,-773.71:99 -chr1 2577397 rs58719822 G C 0.55 PASS AC=2;AF=1.00;AN=2;DB;DP=190;Dels=0.00;HRun=0;HaplotypeScore=14.16;MQ=39.42;MQ0=19;OQ=6097.98;QD=32.09;SB=-764.81 GT:AD:DP:GL:GQ 1/1:1,189:137:-608.80,-41.28,-0.05:99 -chr1 2577433 rs60264562 G C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=207;Dels=0.05;HRun=4;HaplotypeScore=105.46;MQ=35.87;MQ0=25;OQ=5113.11;QD=24.70;SB=-614.98 GT:AD:DP:GL:GQ 1/1:9,184:123:-510.31,-38.53,-16.18:99 -chr1 2577515 . A C 17.95 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=331;Dels=0.00;HRun=3;HaplotypeScore=311.11;MQ=35.94;MQ0=23;QD=0.05;SB=173.50 GT:AD:DP:GL:GQ 0/1:258,71:167:-55.40,-50.33,-521.31:50.72 -chr1 2577549 rs4648567 A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=107.18;MQ=38.40;MQ0=7;OQ=5448.91;QD=18.85;SB=-2125.98 GT:AD:DP:GL:GQ 1/1:24,231:174:-543.89,-82.79,-51.97:99 -chr1 2577655 . G C 44.44 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=135;Dels=0.00;HRun=2;HaplotypeScore=58.73;MQ=26.75;MQ0=23;QD=0.33;SB=26.12 GT:AD:DP:GL:GQ 0/1:116,10:43:-24.31,-16.59,-159.35:77.27 -chr1 2577671 rs58842912 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=128.81;MQ=16.71;MQ0=28;OQ=137.08;QD=1.46;SB=-35.94 GT:AD:DP:GL:GQ 0/1:63,25:12:-20.61,-3.62,-16.30:99 -chr1 2577677 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=3;HaplotypeScore=117.98;MQ=17.54;MQ0=28;OQ=281.66;QD=3.03;SB=-45.56 GT:AD:DP:GL:GQ 0/1:33,58:12:-35.06,-3.61,-7.69:40.79 -chr1 2577682 . T C 14.20 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=98;Dels=0.00;HRun=0;HaplotypeScore=57.79;MQ=17.58;MQ0=34;QD=0.14;SB=-10.00 GT:AD:DP:GL:GQ 0/1:68,26:4:-5.89,-1.21,-7.84:46.86 -chr1 2577700 . T C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=113;Dels=0.00;HRun=0;HaplotypeScore=167.08;MQ=18.58;MQ0=41;OQ=266.89;QD=2.36;SB=-10.00 GT:AD:DP:GL:GQ 1/1:35,36:10:-34.52,-6.65,-4.25:23.97 -chr1 2577709 . C T 15.40 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=131;Dels=0.00;HRun=0;HaplotypeScore=233.03;MQ=18.07;MQ0=48;QD=0.12;SB=-10.00 GT:AD:DP:GL:GQ 0/1:96,13:7:-9.83,-5.02,-17.83:48.10 -chr1 2577721 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=182;Dels=0.00;HRun=0;HaplotypeScore=74.87;MQ=18.10;MQ0=63;OQ=399.60;QD=2.20;SB=-10.00 GT:AD:DP:GL:GQ 0/1:147,35:41:-55.60,-12.35,-87.25:99 -chr1 2577722 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=181;Dels=0.00;HRun=0;HaplotypeScore=54.78;MQ=18.15;MQ0=62;OQ=179.28;QD=0.99;SB=-10.00 GT:AD:DP:GL:GQ 0/1:160,20:38:-32.69,-11.48,-98.33:99 -chr1 2577735 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=191;Dels=0.00;HRun=1;HaplotypeScore=37.61;MQ=17.86;MQ0=65;OQ=262.32;QD=1.37;SB=-10.00 GT:AD:DP:GL:GQ 0/1:173,18:55:-46.08,-16.57,-148.55:99 -chr1 2577740 rs61763463 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=186;Dels=0.00;HRun=1;HaplotypeScore=34.83;MQ=17.84;MQ0=63;OQ=1671.60;QD=8.99;SB=-10.00 GT:AD:DP:GL:GQ 0/1:52,133:54:-186.71,-16.27,-40.75:99 -chr1 2577765 . C A 125.78 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=144;Dels=0.00;HRun=0;HaplotypeScore=41.35;MQ=16.77;MQ0=52;QD=0.87;SB=-10.00 GT:AD:DP:GL:GQ 0/1:91,53:26:-23.70,-7.84,-54.51:99 -chr1 2577769 . C T 71.72 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=134;Dels=0.00;HRun=0;HaplotypeScore=43.82;MQ=16.10;MQ0=52;QD=0.54;SB=-10.00 GT:AD:DP:GL:GQ 0/1:87,47:21:-16.80,-6.34,-49.74:99 -chr1 2577770 . G C 89.65 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=133;Dels=0.00;HRun=1;HaplotypeScore=42.82;MQ=16.09;MQ0=52;QD=0.67;SB=-10.00 GT:AD:DP:GL:GQ 0/1:85,48:21:-18.58,-6.33,-66.40:99 -chr1 2577784 rs61761450 G C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=108;Dels=0.00;HRun=0;HaplotypeScore=93.26;MQ=15.12;MQ0=44;OQ=499.20;QD=4.62;SB=-10.00 GT:AD:DP:GL:GQ 1/1:36,72:12:-53.51,-3.62,-0.00:36.12 -chr1 2577796 rs28368363 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=154.23;MQ=14.20;MQ0=39;OQ=53.95;QD=0.56;SB=-10.00 GT:AD:DP:GL:GQ 0/1:68,23:5:-10.19,-1.51,-6.10:45.96 -chr1 2577799 rs61765844 A C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.00;HRun=4;HaplotypeScore=106.56;MQ=13.50;MQ0=38;OQ=136.44;QD=1.53;SB=-10.00 GT:AD:DP:GL:GQ 1/1:37,52:5:-17.20,-1.51,-0.00:15.04 -chr1 2577815 rs61761446 G A 0.11 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=16.91;MQ=12.99;MQ0=33;OQ=113.87;QD=2.19;SB=-10.00 GT:AD:DP:GL:GQ 1/1:30,21:4:-14.92,-1.21,-0.00:12.04 -chr1 2577825 . G A 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=32.84;MQ=14.16;MQ0=28;OQ=149.17;QD=3.17;SB=-10.00 GT:AD:DP:GL:GQ 1/1:28,19:5:-18.48,-1.51,-0.00:15.04 -chr1 2577833 . C T 42.25 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=22.86;MQ=13.04;MQ0=28;QD=0.98;SB=-10.00 GT:AD:DP:GL:GQ 1/1:33,10:2:-7.63,-0.60,-0.00:6.02 -chr1 2577851 . G T 0.04 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=11.27;MQ=14.57;MQ0=20;OQ=148.54;QD=4.24;SB=-10.00 GT:AD:DP:GL:GQ 1/1:17,14:6:-18.43,-1.81,-0.01:18.02 -chr1 2577883 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=0;HaplotypeScore=114.78;MQ=19.71;MQ0=31;OQ=87.78;QD=0.84;SB=-10.00 GT:AD:DP:GL:GQ 0/1:82,22:16:-16.89,-4.83,-35.06:99 -chr1 2577892 rs61761448 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=139.63;MQ=19.08;MQ0=41;OQ=358.39;QD=3.04;SB=-10.00 GT:AD:DP:GL:GQ 0/1:46,69:13:-43.04,-3.92,-5.80:18.77 -chr1 2577904 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=128;Dels=0.00;HRun=1;HaplotypeScore=169.18;MQ=18.99;MQ0=45;OQ=432.72;QD=3.38;SB=-10.00 GT:AD:DP:GL:GQ 0/1:56,72:16:-51.38,-4.83,-6.85:20.23 -chr1 2577913 . A G 43.14 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=0;HaplotypeScore=228.63;MQ=18.89;MQ0=43;QD=0.37;SB=-10.00 GT:AD:DP:GL:GQ 0/1:102,14:7:-9.71,-2.11,-14.52:75.98 -chr1 2577923 . G A 12.44 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=122;Dels=0.00;HRun=0;HaplotypeScore=139.34;MQ=19.75;MQ0=38;QD=0.10;SB=-10.00 GT:AD:DP:GL:GQ 0/1:84,37:10:-7.51,-3.01,-26.55:45.02 -chr1 2577924 . T C 61.88 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=0;HaplotypeScore=137.09;MQ=19.68;MQ0=38;QD=0.52;SB=-10.00 GT:AD:DP:GL:GQ 0/1:94,23:11:-12.79,-3.32,-26.27:94.71 -chr1 2577931 rs61763465 G C 371.46 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=106.32;MQ=19.54;MQ0=35;QD=3.50;SB=-10.00 GT:AD:DP:GL:GQ 1/1:30,75:9:-40.73,-2.71,-0.00:27.09 -chr1 2577945 rs61765845 G C 1059.87 HARD_TO_VALIDATE;Indel AC=2;AF=1.00;AN=2;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=141.04;MQ=19.73;MQ0=38;QD=10.00;SB=-10.00 GT:AD:DP:GL:GQ 1/1:31,70:26:-113.65,-11.26,-4.08:71.85 -chr1 2577953 . A G 356.53 HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=98;Dels=0.00;HRun=0;HaplotypeScore=136.50;MQ=18.50;MQ0=43;QD=3.64;SB=-10.00 GT:AD:DP:GL:GQ 0/1:78,20:16:-43.76,-4.82,-8.02:32 -chr1 2577977 . G A 20.69 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=1;HaplotypeScore=16.21;MQ=15.79;MQ0=48;QD=0.27;SB=-10.00 GT:AD:DP:GL:GQ 0/1:72,5:20:-11.37,-6.02,-58.36:53.49 -chr1 2579397 rs61761374 C G 193.05 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=3.77;MQ=22.35;MQ0=6;OQ=1341.59;QD=14.91;SB=-551.47 GT:AD:DP:GL:GQ 0/1:44,46:77:-160.66,-23.22,-161.20:99 -chr1 2580726 . T G 35.92 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=5.25;MQ0=59;QD=0.59;SB=-10.00 GT:AD:DP:GL:GQ 1/1:58,2:2:-7.00,-0.60,-0.00:6.02 -chr1 2580768 . T C 36.28 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=5.74;MQ0=49;QD=0.71;SB=-10.00 GT:AD:DP:GL:GQ 1/1:46,5:2:-7.04,-0.60,-0.00:6.02 -chr1 2580784 rs11488598 T A 45.88 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=6.33;MQ0=40;QD=1.09;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,41:2:-8.00,-0.60,-0.00:6.02 -chr1 2581065 rs61761440 A C 33.92 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=9.03;MQ=10.33;MQ0=29;QD=0.71;SB=-10.00 GT:AD:DP:GL:GQ 1/1:28,20:2:-6.80,-0.60,-0.00:6.02 -chr1 2581076 . T A 42.69 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.33;MQ=11.35;MQ0=18;QD=1.33;SB=-10.00 GT:AD:DP:GL:GQ 1/1:16,15:2:-7.68,-0.60,-0.00:6.02 -chr1 2581088 . A C 35.92 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=15.32;MQ0=5;QD=3.27;SB=-10.00 GT:AD:DP:GL:GQ 1/1:3,8:2:-7.00,-0.60,-0.00:6.02 -chr1 2581203 . C G 46.77 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=12.99;MQ=10.81;MQ0=53;QD=0.69;SB=5.05 GT:AD:DP:GL:GQ 0/1:57,11:14:-12.18,-4.22,-47.55:79.61 -chr1 2581221 rs4648702 C A 0.09 PASS AC=1;AF=0.50;AN=2;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=12.38;MQ=17.15;MQ0=42;OQ=109.22;QD=1.11;SB=-5.56 GT:AD:DP:GL:GQ 0/1:80,16:46:-28.07,-13.86,-128.22:99 -chr1 2581257 rs4648701 T A 0.08 PASS AC=2;AF=1.00;AN=2;DB;DP=134;Dels=0.00;HRun=0;HaplotypeScore=5.16;MQ=20.38;MQ0=25;OQ=3859.45;QD=28.80;SB=-1801.06 GT:AD:DP:GL:GQ 1/1:0,134:101:-384.94,-30.42,-0.03:99 -chr1 2587428 . A C 37.49 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=14.36;MQ0=8;QD=1.10;SB=-45.01 GT:AD:DP:GL:GQ 1/1:0,34:2:-7.16,-0.60,-0.00:6.02 -chr1 2593169 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=425;Dels=0.00;HRun=1;HaplotypeScore=105.62;MQ=17.46;MQ0=82;OQ=848.96;QD=2.00;SB=-332.82 GT:AD:DP:GL:GQ 0/1:365,60:163:-137.29,-49.11,-428.79:99 -chr1 2596443 . C T 41.24 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=12.40;MQ0=7;QD=3.75;SB=-10.00 GT:AD:DP:GL:GQ 1/1:7,4:2:-7.53,-0.60,-0.00:6.02 -chr1 2596445 . T G 36.05 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;HRun=1;HaplotypeScore=2.31;MQ=11.87;MQ0=8;QD=3.00;SB=-10.00 GT:AD:DP:GL:GQ 1/1:5,7:2:-7.01,-0.60,-0.00:6.02 -chr1 2596476 . G A 46.02 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;HRun=1;HaplotypeScore=26.89;MQ=5.53;MQ0=56;QD=0.77;SB=-10.00 GT:AD:DP:GL:GQ 1/1:58,2:2:-8.01,-0.60,-0.00:6.02 -chr1 2596850 . G C 35.05 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=11.43;MQ0=28;QD=0.82;SB=-10.00 GT:AD:DP:GL:GQ 0/1:29,14:5:-8.30,-1.51,-13.08:67.88 -chr1 2596943 . C A 49.59 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=50.99;MQ=11.35;MQ0=54;QD=0.70;SB=-6.99 GT:AD:DP:GL:GQ 0/1:65,5:13:-12.16,-3.92,-30.66:82.43 -chr1 2597318 . T C 31.81 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=14.62;MQ=5.54;MQ0=70;QD=0.42;SB=-10.00 GT:AD:DP:GL:GQ 1/1:73,2:2:-6.59,-0.60,-0.00:6.01 -chr1 2598250 . T A 27.90 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=22;Dels=0.00;HRun=1;HaplotypeScore=2.24;MQ=16.56;MQ0=5;QD=1.27;SB=-0.98 GT:AD:DP:GL:GQ 0/1:19,3:5:-7.58,-1.51,-10.62:60.73 -chr1 2598257 . G T 12.16 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=22;Dels=0.00;HRun=0;HaplotypeScore=10.71;MQ=15.61;MQ0=8;QD=0.55;SB=-0.98 GT:AD:DP:GL:GQ 0/1:19,3:5:-5.98,-1.51,-10.70:44.72 -chr1 2598656 . G A 10.26 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=175;Dels=0.00;HRun=1;HaplotypeScore=114.17;MQ=5.78;MQ0=152;QD=0.06;SB=-10.00 GT:AD:DP:GL:GQ 0/1:161,14:1:-4.27,-0.30,-0.00:1.76 -chr1 2598795 . G A 10.26 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=0;HaplotypeScore=47.85;MQ=7.17;MQ0=69;QD=0.12;SB=-10.00 GT:AD:DP:GL:GQ 0/1:84,2:1:-4.27,-0.30,-0.00:1.76 -chr1 2598944 . A C 17.83 HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=1;HaplotypeScore=67.67;MQ=10.48;MQ0=39;QD=0.27;SB=-25.99 GT:AD:DP:GL:GQ 0/1:48,17:3:-5.96,-0.91,-2.50:15.92 -chr1 2598946 . A G 34.06 HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=82.40;MQ=11.36;MQ0=42;QD=0.46;SB=-10.00 GT:AD:DP:GL:GQ 0/1:70,4:3:-7.59,-0.90,-4.17:32.64 -chr1 2598950 . C A 54.26 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=102;Dels=0.00;HRun=0;HaplotypeScore=105.52;MQ=12.29;MQ0=47;QD=0.53;SB=-3.99 GT:AD:DP:GL:GQ 0/1:94,7:7:-10.82,-2.11,-14.32:87.10 -chr1 2599001 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=133;Dels=0.00;HRun=0;HaplotypeScore=31.75;MQ=12.68;MQ0=54;OQ=83.85;QD=0.63;SB=-3.99 GT:AD:DP:GL:GQ 0/1:91,33:10:-18.26,-6.59,-21.60:99 -chr1 2599015 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=141;Dels=0.00;HRun=2;HaplotypeScore=24.68;MQ=11.50;MQ0=72;OQ=64.97;QD=0.46;SB=-43.54 GT:AD:DP:GL:GQ 0/1:128,12:9:-12.49,-2.71,-23.15:97.80 -chr1 2599040 rs61761456 A T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=133;Dels=0.00;HRun=0;HaplotypeScore=87.15;MQ=9.23;MQ0=88;OQ=72.77;QD=0.55;SB=-10.00 GT:AD:DP:GL:GQ 1/1:81,14:5:-17.43,-7.71,-6.64:10.71 -chr1 2599044 rs61761457 T A 33.25 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=131;Dels=0.00;HRun=1;HaplotypeScore=64.29;MQ=9.30;MQ0=86;QD=0.25;SB=-10.00 GT:AD:DP:GL:GQ 0/1:104,11:6:-11.67,-5.06,-13.57:66.08 -chr1 2599198 . C T 23.45 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=16.24;MQ=14.99;MQ0=19;QD=0.50;SB=-3.99 GT:AD:DP:GL:GQ 0/1:29,18:5:-7.14,-1.51,-10.24:56.27 -chr1 2599218 . G A 105.55 HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=1;HaplotypeScore=106.10;MQ=16.73;MQ0=11;QD=2.29;SB=-69.07 GT:AD:DP:GL:GQ 0/1:28,17:6:-15.65,-1.81,-6.14:43.30 -chr1 2599225 . C G 35.32 HARD_TO_VALIDATE;Indel;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=82.64;MQ=16.87;MQ0=11;QD=0.78;SB=-10.88 GT:AD:DP:GL:GQ 0/1:36,6:7:-14.02,-7.20,-19.31:68.16 -chr1 2599228 . G A 323.86 HARD_TO_VALIDATE;Indel;SnpCluster AC=2;AF=1.00;AN=2;DP=46;Dels=0.04;HRun=0;HaplotypeScore=68.32;MQ=16.68;MQ0=12;QD=7.04;SB=-89.34 GT:AD:DP:GL:GQ 1/1:16,28:10:-35.98,-3.02,-0.01:30.08 -chr1 2599239 . T A 19.57 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=43.45;MQ=14.62;MQ0=19;QD=0.36;SB=-4.42 GT:AD:DP:GL:GQ 0/1:49,2:7:-12.49,-7.25,-17.00:52.36 -chr1 2599247 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=40.77;MQ=14.18;MQ0=20;OQ=70.13;QD=1.35;SB=-7.01 GT:AD:DP:GL:GQ 0/1:29,21:6:-12.11,-1.81,-8.56:67.52 -chr1 2599654 . G C 12.35 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=120;Dels=0.00;HRun=1;HaplotypeScore=26.39;MQ=2.65;MQ0=119;QD=0.10;SB=-10.00 GT:AD:DP:GL:GQ 0/1:119,1:1:-4.49,-0.30,-0.00:1.76 -chr1 2601422 . A G 25.82 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;HRun=0;HaplotypeScore=10.71;MQ=4.09;MQ0=110;QD=0.23;SB=-10.00 GT:AD:DP:GL:GQ 1/1:99,14:2:-5.99,-0.60,-0.00:6.01 -chr1 2601437 . T C 35.28 DPFilter;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;HRun=0;HaplotypeScore=12.99;MQ=3.79;MQ0=129;QD=0.27;SB=-10.00 GT:AD:DP:GL:GQ 1/1:103,30:2:-6.94,-0.60,-0.00:6.02 -chr1 2601504 . G A 41.24 DPFilter;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=168;Dels=0.00;HRun=0;HaplotypeScore=19.74;MQ=3.30;MQ0=165;QD=0.25;SB=-10.00 GT:AD:DP:GL:GQ 1/1:158,9:2:-7.53,-0.60,-0.00:6.02 -chr1 2601515 . A C 43.05 DPFilter;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;HRun=2;HaplotypeScore=7.29;MQ=3.29;MQ0=153;QD=0.28;SB=-10.00 GT:AD:DP:GL:GQ 1/1:91,64:2:-7.71,-0.60,-0.00:6.02 -chr1 2601516 . G A 0.02 FDRtranche1.00to2.00 AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;HRun=1;HaplotypeScore=6.38;MQ=3.29;MQ0=153;OQ=51.25;QD=0.33;SB=-10.00 GT:AD:DP:GL:GQ 1/1:89,66:2:-8.53,-0.60,-0.00:6.02 -chr1 2601859 . G A 39.02 DPFilter;HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=164;Dels=0.00;HRun=0;HaplotypeScore=20.82;MQ=4.64;MQ0=146;QD=0.24;SB=-10.00 GT:AD:DP:GL:GQ 1/1:150,13:2:-7.31,-0.60,-0.00:6.02 -chr1 2603248 rs11486046 A C 0.95 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=4;HaplotypeScore=1.14;MQ=19.37;MQ0=3;OQ=283.27;QD=11.33;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,23:9:-31.91,-2.71,-0.00:27.08 -chr1 2603587 . A G 31.28 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;HRun=1;HaplotypeScore=24.46;MQ=5.10;MQ0=81;QD=0.34;SB=-10.00 GT:AD:DP:GL:GQ 1/1:74,19:2:-6.54,-0.60,-0.00:6.01 -chr1 2603630 . C T 0.04 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=4.88;MQ=7.26;MQ0=55;OQ=82.12;QD=1.35;SB=-10.00 GT:AD:DP:GL:GQ 1/1:51,10:3:-11.70,-0.90,-0.00:9.03 -chr1 2603684 . A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=23.79;MQ=8.35;MQ0=58;OQ=160.35;QD=2.36;SB=-10.00 GT:AD:DP:GL:GQ 1/1:55,13:6:-19.61,-1.81,-0.00:18.04 -chr1 2603850 . C G 10.08 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=225;Dels=0.00;HRun=0;HaplotypeScore=68.31;MQ=3.10;MQ0=215;QD=0.04;SB=-10.00 GT:AD:DP:GL:GQ 0/1:213,10:1:-4.25,-0.30,-0.00:1.76 -chr1 2604182 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=169;Dels=0.00;HRun=1;HaplotypeScore=49.21;MQ=7.86;MQ0=143;OQ=70.78;QD=0.42;SB=-10.00 GT:AD:DP:GL:GQ 0/1:162,7:11:-13.68,-3.31,-27.79:99 -chr1 2604202 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=174;Dels=0.00;HRun=0;HaplotypeScore=66.53;MQ=7.81;MQ0=146;OQ=55.73;QD=0.32;SB=-10.00 GT:AD:DP:GL:GQ 0/1:164,10:11:-12.17,-3.31,-27.45:88.56 -chr1 2604211 . C A 34.20 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=202;Dels=0.00;HRun=0;HaplotypeScore=110.16;MQ=8.09;MQ0=168;QD=0.17;SB=-10.00 GT:AD:DP:GL:GQ 0/1:190,11:14:-10.92,-4.22,-40.03:67.04 -chr1 2604257 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=175;Dels=0.00;HRun=0;HaplotypeScore=82.11;MQ=12.16;MQ0=114;OQ=80.38;QD=0.46;SB=32.96 GT:AD:DP:GL:GQ 0/1:146,20:31:-22.91,-11.59,-89.29:99 -chr1 2604263 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=168;Dels=0.00;HRun=1;HaplotypeScore=133.02;MQ=12.71;MQ0=105;OQ=191.66;QD=1.14;SB=50.18 GT:AD:DP:GL:GQ 0/1:122,46:33:-32.40,-9.95,-88.01:99 -chr1 2604269 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=146;Dels=0.00;HRun=0;HaplotypeScore=77.37;MQ=13.05;MQ0=90;OQ=192.77;QD=1.32;SB=17.43 GT:AD:DP:GL:GQ 0/1:70,69:33:-34.89,-12.33,-71.96:99 -chr1 2604305 . T A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=0;HaplotypeScore=7.47;MQ=17.34;MQ0=29;OQ=55.74;QD=0.69;SB=74.25 GT:AD:DP:GL:GQ 0/1:58,22:37:-20.01,-11.15,-121.92:88.58 -chr1 2604310 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=4.63;MQ=18.11;MQ0=23;OQ=69.18;QD=0.93;SB=74.24 GT:AD:DP:GL:GQ 0/1:55,19:37:-21.34,-11.14,-111.00:99 -chr1 2604358 . C T 71.23 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=87;Dels=0.00;HRun=0;HaplotypeScore=145.78;MQ=14.15;MQ0=44;QD=0.82;SB=11.06 GT:AD:DP:GL:GQ 0/1:71,13:12:-14.02,-3.62,-30.75:99 -chr1 2604359 . C A 74.64 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=0;HaplotypeScore=131.89;MQ=14.13;MQ0=41;QD=0.91;SB=5.02 GT:AD:DP:GL:GQ 0/1:26,56:10:-13.76,-3.01,-18.66:99 -chr1 2604363 . G C 180.85 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=2;HaplotypeScore=137.79;MQ=13.57;MQ0=46;QD=2.10;SB=2.04 GT:AD:DP:GL:GQ 0/1:29,40:11:-24.68,-3.31,-21.48:99 -chr1 2604377 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=0;HaplotypeScore=82.82;MQ=13.39;MQ0=50;OQ=54.76;QD=0.61;SB=-10.00 GT:AD:DP:GL:GQ 0/1:65,25:4:-9.97,-1.21,-3.57:23.65 -chr1 2604397 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=1;HaplotypeScore=150.87;MQ=13.17;MQ0=49;OQ=71.12;QD=0.83;SB=-10.00 GT:AD:DP:GL:GQ 0/1:47,38:4:-11.60,-1.21,-3.90:26.92 -chr1 2604403 . T C 38.45 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;HRun=2;HaplotypeScore=145.51;MQ=12.80;MQ0=46;QD=0.47;SB=-10.00 GT:AD:DP:GL:GQ 1/1:13,58:3:-10.84,-4.28,-3.54:7.45 -chr1 2604424 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=48.30;MQ=13.20;MQ0=33;OQ=76.83;QD=1.35;SB=-6.99 GT:AD:DP:GL:GQ 0/1:21,30:6:-12.78,-1.81,-6.73:49.16 -chr1 2604431 . C T 25.24 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=33.49;MQ=13.71;MQ0=25;QD=0.55;SB=-7.01 GT:AD:DP:GL:GQ 0/1:40,3:5:-7.32,-1.51,-9.43:58.07 -chr1 2604444 . G C 43.47 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=1;HaplotypeScore=38.64;MQ=15.55;MQ0=13;QD=1.67;SB=-10.00 GT:AD:DP:GL:GQ 0/1:8,16:4:-12.26,-4.63,-7.13:24.99 -chr1 2604449 . G C 30.45 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=21;Dels=0.10;HRun=4;HaplotypeScore=30.98;MQ=14.63;MQ0=12;QD=1.45;SB=-10.00 GT:AD:DP:GL:GQ 0/1:6,6:4:-11.16,-4.83,-7.63:28 -chr1 2604508 . G C 0.07 PASS AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=11.01;MQ=14.95;MQ0=13;OQ=265.66;QD=7.81;SB=-10.00 GT:AD:DP:GL:GQ 1/1:9,25:7:-30.15,-2.11,-0.00:21.07 -chr1 2604516 . G T 0.07 PASS AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;HRun=1;HaplotypeScore=5.00;MQ=14.42;MQ0=18;OQ=191.90;QD=4.68;SB=-10.00 GT:AD:DP:GL:GQ 1/1:15,26:7:-22.77,-2.11,-0.00:21.05 -chr1 2604535 rs61763522 A G 0.35 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=9.63;MQ=11.76;MQ0=38;OQ=251.64;QD=3.87;SB=-10.00 GT:AD:DP:GL:GQ 1/1:12,53:8:-28.75,-2.41,-0.00:24.07 -chr1 2604555 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=1;HaplotypeScore=35.24;MQ=12.18;MQ0=57;OQ=115.73;QD=1.24;SB=14.08 GT:AD:DP:GL:GQ 0/1:66,27:12:-18.47,-3.62,-35.84:99 -chr1 2604572 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=137;Dels=0.00;HRun=3;HaplotypeScore=50.74;MQ=13.39;MQ0=78;OQ=55.27;QD=0.40;SB=20.07 GT:AD:DP:GL:GQ 0/1:127,10:20:-14.84,-6.03,-56.38:88.11 -chr1 2604579 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=138;Dels=0.00;HRun=1;HaplotypeScore=62.98;MQ=13.28;MQ0=75;OQ=144.76;QD=1.05;SB=20.08 GT:AD:DP:GL:GQ 0/1:125,13:18:-23.19,-5.43,-45.19:99 -chr1 2604585 rs61763523 T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=140;Dels=0.00;HRun=1;HaplotypeScore=70.32;MQ=13.11;MQ0=76;OQ=158.49;QD=1.13;SB=-6.99 GT:AD:DP:GL:GQ 0/1:102,37:9:-21.84,-2.71,-10.97:82.64 -chr1 2604597 . A G 110.83 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=149;Dels=0.00;HRun=0;HaplotypeScore=107.90;MQ=13.27;MQ0=78;QD=0.74;SB=8.05 GT:AD:DP:GL:GQ 0/1:135,14:14:-18.58,-4.22,-35.74:99 -chr1 2604601 . A C 218.40 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=145;Dels=0.00;HRun=0;HaplotypeScore=111.25;MQ=13.41;MQ0=75;QD=1.51;SB=4.22 GT:AD:DP:GL:GQ 0/1:108,36:15:-33.23,-8.10,-26.51:99 -chr1 2604603 . T C 273.40 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=145;Dels=0.00;HRun=2;HaplotypeScore=107.87;MQ=13.23;MQ0=76;QD=1.89;SB=-75.88 GT:AD:DP:GL:GQ 0/1:65,76:14:-34.84,-4.22,-16.55:99 -chr1 2604631 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=169;Dels=0.00;HRun=1;HaplotypeScore=78.83;MQ=15.93;MQ0=66;OQ=130.30;QD=0.77;SB=-43.00 GT:AD:DP:GL:GQ 0/1:129,40:31:-25.65,-9.34,-87.13:99 -chr1 2604640 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=154;Dels=0.00;HRun=0;HaplotypeScore=101.27;MQ=16.99;MQ0=53;OQ=84.42;QD=0.55;SB=-10.00 GT:AD:DP:GL:GQ 0/1:93,61:34:-21.98,-10.25,-116.76:99 -chr1 2604659 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=138;Dels=0.00;HRun=1;HaplotypeScore=114.19;MQ=17.85;MQ0=39;OQ=180.46;QD=1.31;SB=-10.00 GT:AD:DP:GL:GQ 0/1:106,32:34:-31.57,-10.24,-88.52:99 -chr1 2604673 rs7415296 T C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=120;Dels=0.00;HRun=1;HaplotypeScore=73.29;MQ=18.57;MQ0=29;OQ=1125.63;QD=9.38;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,107:33:-116.16,-9.94,-0.01:99 -chr1 2604706 rs6673862 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=39.35;MQ=23.53;MQ0=16;OQ=454.13;QD=4.83;SB=-3.99 GT:AD:DP:GL:GQ 0/1:51,43:41:-61.05,-12.35,-88.54:99 -chr1 2604709 rs6604993 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=41.02;MQ=25.10;MQ0=15;OQ=512.66;QD=5.40;SB=-34.93 GT:AD:DP:GL:GQ 0/1:48,47:45:-68.11,-13.56,-92.92:99 -chr1 2604721 rs61763524 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=115.04;MQ=25.76;MQ0=12;OQ=386.36;QD=4.15;SB=-44.44 GT:AD:DP:GL:GQ 0/1:49,44:40:-53.97,-12.05,-114.41:99 -chr1 2604728 rs61763525 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=150.75;MQ=27.24;MQ0=8;OQ=52.75;QD=0.62;SB=-10.00 GT:AD:DP:GL:GQ 0/1:49,22:37:-19.70,-11.14,-117.15:85.59 -chr1 2604813 rs6687492 A C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.04;HRun=2;HaplotypeScore=47.11;MQ=23.79;MQ0=20;OQ=1537.32;QD=16.53;SB=-154.02 GT:AD:DP:GL:GQ 1/1:2,87:44:-157.33,-12.95,-0.02:99 -chr1 2604848 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=9.77;MQ=17.69;MQ0=30;OQ=71.77;QD=1.30;SB=-10.00 GT:AD:DP:GL:GQ 0/1:37,18:14:-14.68,-4.22,-36.61:99 -chr1 2604864 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=1;HaplotypeScore=28.67;MQ=16.02;MQ0=35;OQ=77.33;QD=1.17;SB=-10.00 GT:AD:DP:GL:GQ 0/1:62,4:12:-14.63,-3.61,-28.91:99 -chr1 2604867 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=0;HaplotypeScore=23.02;MQ=16.18;MQ0=37;OQ=170.35;QD=2.43;SB=-10.00 GT:AD:DP:GL:GQ 0/1:59,11:15:-24.84,-4.52,-31.52:99 -chr1 2604879 . A G 48.78 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=0;HaplotypeScore=25.49;MQ=18.59;MQ0=41;QD=0.57;SB=-6.99 GT:AD:DP:GL:GQ 0/1:79,7:20:-14.19,-6.03,-66.66:81.62 -chr1 2604892 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=1;HaplotypeScore=62.88;MQ=20.71;MQ0=36;OQ=145.34;QD=1.60;SB=-40.00 GT:AD:DP:GL:GQ 0/1:67,21:27:-25.95,-8.13,-71.88:99 -chr1 2604894 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=93;Dels=0.01;HRun=1;HaplotypeScore=55.68;MQ=20.44;MQ0=36;OQ=138.96;QD=1.49;SB=-41.95 GT:AD:DP:GL:GQ 0/1:67,21:26:-25.01,-7.83,-77.06:99 -chr1 2604912 rs61763528 T G 20.95 HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=50.36;MQ=22.66;MQ0=25;QD=0.19;SB=-10.00 GT:AD:DP:GL:GQ 0/1:76,35:29:-14.11,-8.74,-95.07:53.75 -chr1 2604916 rs61763529 T G 194.85 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=113;Dels=0.00;HRun=0;HaplotypeScore=46.31;MQ=24.02;MQ0=23;QD=1.72;SB=-10.00 GT:AD:DP:GL:GQ 0/1:75,37:38:-34.21,-11.44,-107.06:99 -chr1 2604917 rs61763530 C G 1480.34 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=47.31;MQ=24.13;MQ0=22;QD=13.22;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,96:38:-168.50,-25.75,-16.88:88.75 -chr1 2604946 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=236;Dels=0.00;HRun=1;HaplotypeScore=63.84;MQ=27.71;MQ0=21;OQ=79.42;QD=0.34;SB=27.56 GT:AD:DP:GL:GQ 0/1:204,31:106:-43.16,-31.93,-335.49:99 -chr1 2604947 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=236;Dels=0.00;HRun=1;HaplotypeScore=57.70;MQ=27.78;MQ0=20;OQ=56.57;QD=0.24;SB=26.25 GT:AD:DP:GL:GQ 0/1:201,34:107:-41.17,-32.23,-378.22:89.40 -chr1 2604959 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=241;Dels=0.00;HRun=1;HaplotypeScore=113.45;MQ=29.01;MQ0=17;OQ=854.86;QD=3.55;SB=-18.43 GT:AD:DP:GL:GQ 0/1:165,75:109:-121.61,-32.84,-284.29:99 -chr1 2604960 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=240;Dels=0.00;HRun=1;HaplotypeScore=123.76;MQ=29.06;MQ0=17;OQ=593.64;QD=2.47;SB=71.18 GT:AD:DP:GL:GQ 0/1:190,50:108:-95.18,-32.53,-286.72:99 -chr1 2604983 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=224;Dels=0.00;HRun=1;HaplotypeScore=495.52;MQ=29.66;MQ0=13;OQ=71.64;QD=0.32;SB=60.44 GT:AD:DP:GL:GQ 0/1:161,61:71:-31.89,-21.44,-242.50:99 -chr1 2604984 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=225;Dels=0.00;HRun=1;HaplotypeScore=666.90;MQ=29.67;MQ0=14;OQ=53.59;QD=0.24;SB=51.85 GT:AD:DP:GL:GQ 0/1:162,59:73:-33.13,-24.49,-250.82:86.43 -chr1 2604994 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=301;Dels=0.00;HRun=1;HaplotypeScore=445.50;MQ=27.33;MQ0=32;OQ=911.93;QD=3.03;SB=-289.52 GT:AD:DP:GL:GQ 0/1:244,47:103:-139.58,-45.10,-310.97:99 -chr1 2605000 . A G 39.90 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=313;Dels=0.00;HRun=0;HaplotypeScore=296.02;MQ=26.42;MQ0=37;QD=0.13;SB=95.30 GT:AD:DP:GL:GQ 0/1:236,73:110:-42.96,-35.69,-387.52:72.73 -chr1 2605008 . C A 80.14 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=308;Dels=0.00;HRun=1;HaplotypeScore=230.13;MQ=26.37;MQ0=45;QD=0.26;SB=104.26 GT:AD:DP:GL:GQ 0/1:278,18:127:-64.22,-52.92,-396.67:99 -chr1 2605010 . C A 77.92 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=309;Dels=0.00;HRun=1;HaplotypeScore=334.39;MQ=26.26;MQ0=46;QD=0.25;SB=101.18 GT:AD:DP:GL:GQ 0/1:276,18:125:-51.79,-40.71,-371.85:99 -chr1 2605026 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=292;Dels=0.00;HRun=0;HaplotypeScore=503.51;MQ=24.87;MQ0=63;OQ=127.24;QD=0.44;SB=-33.91 GT:AD:DP:GL:GQ 0/1:107,181:82:-40.71,-24.70,-242.51:99 -chr1 2605040 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=333;Dels=0.00;HRun=0;HaplotypeScore=585.35;MQ=23.26;MQ0=69;OQ=164.03;QD=0.49;SB=60.04 GT:AD:DP:GL:GQ 0/1:234,98:87:-48.89,-29.20,-293.13:99 -chr1 2605055 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=394;Dels=0.00;HRun=0;HaplotypeScore=493.35;MQ=22.62;MQ0=80;OQ=367.10;QD=0.93;SB=90.44 GT:AD:DP:GL:GQ 0/1:300,89:126:-77.94,-37.95,-375.51:99 -chr1 2605064 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=394;Dels=0.00;HRun=1;HaplotypeScore=562.83;MQ=22.35;MQ0=77;OQ=111.09;QD=0.28;SB=241.07 GT:AD:DP:GL:GQ 0/1:342,17:127:-65.55,-51.15,-483.41:99 -chr1 2605074 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=367;Dels=0.02;HRun=1;HaplotypeScore=550.64;MQ=22.20;MQ0=72;OQ=1826.16;QD=4.98;SB=11.30 GT:AD:DP:GL:GQ 0/1:140,136:125:-251.01,-65.11,-307.30:99 -chr1 2605078 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=360;Dels=0.00;HRun=1;HaplotypeScore=645.39;MQ=22.69;MQ0=67;OQ=145.82;QD=0.41;SB=80.26 GT:AD:DP:GL:GQ 0/1:281,25:108:-50.40,-32.54,-347.91:99 -chr1 2605087 rs9442451 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=302;Dels=0.00;HRun=1;HaplotypeScore=515.01;MQ=23.21;MQ0=61;OQ=1550.28;QD=5.13;SB=0.26 GT:AD:DP:GL:GQ 0/1:127,172:83:-183.36,-25.04,-152.30:99 -chr1 2605095 rs7411254 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=295;Dels=0.00;HRun=0;HaplotypeScore=864.08;MQ=22.89;MQ0=61;OQ=861.12;QD=2.92;SB=-439.01 GT:AD:DP:GL:GQ 0/1:231,62:100:-119.53,-30.13,-233.73:99 -chr1 2605099 rs61763531 T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=268;Dels=0.03;HRun=1;HaplotypeScore=671.07;MQ=23.34;MQ0=56;OQ=331.54;QD=1.24;SB=62.18 GT:AD:DP:GL:GQ 0/1:101,158:88:-62.36,-25.93,-228.22:99 -chr1 2605116 rs61763532 G T 727.77 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=280;Dels=0.00;HRun=0;HaplotypeScore=340.71;MQ=26.06;MQ0=38;QD=2.60;SB=80.25 GT:AD:DP:GL:GQ 0/1:98,160:86:-122.32,-46.26,-192.83:99 -chr1 2605118 . G A 130.78 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=290;Dels=0.00;HRun=2;HaplotypeScore=353.34;MQ=26.07;MQ0=39;QD=0.45;SB=68.17 GT:AD:DP:GL:GQ 0/1:266,20:82:-41.07,-24.71,-249.92:99 -chr1 2605120 . A G 143.56 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=286;Dels=0.00;HRun=0;HaplotypeScore=391.53;MQ=26.07;MQ0=38;QD=0.50;SB=44.57 GT:AD:DP:GL:GQ 0/1:230,56:92:-45.37,-27.73,-305.63:99 -chr1 2605121 . C A 843.63 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=283;Dels=0.00;HRun=2;HaplotypeScore=384.52;MQ=26.08;MQ0=38;QD=2.98;SB=80.20 GT:AD:DP:GL:GQ 0/1:195,69:112:-123.96,-36.31,-258.00:99 -chr1 2605143 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=261;Dels=0.00;HRun=0;HaplotypeScore=165.80;MQ=26.36;MQ0=57;OQ=2061.60;QD=7.90;SB=82.92 GT:AD:DP:GL:GQ 0/1:135,121:131:-251.29,-41.84,-249.16:99 -chr1 2605152 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=276;Dels=0.00;HRun=0;HaplotypeScore=166.41;MQ=25.95;MQ0=68;OQ=1747.63;QD=6.33;SB=68.24 GT:AD:DP:GL:GQ 0/1:180,94:128:-216.61,-38.56,-254.69:99 -chr1 2605164 rs56278231 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=99.67;MQ=26.36;MQ0=65;OQ=2109.83;QD=7.59;SB=62.23 GT:AD:DP:GL:GQ 0/1:140,134:129:-253.13,-38.87,-210.06:99 -chr1 2605176 rs61763533 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=283;Dels=0.00;HRun=4;HaplotypeScore=192.72;MQ=26.37;MQ0=64;OQ=2285.97;QD=8.08;SB=50.20 GT:AD:DP:GL:GQ 0/1:155,126:135:-272.62,-40.74,-266.81:99 -chr1 2605179 rs7415101 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=293;Dels=0.00;HRun=0;HaplotypeScore=210.05;MQ=26.19;MQ0=65;OQ=1158.68;QD=3.95;SB=-384.91 GT:AD:DP:GL:GQ 0/1:236,57:97:-148.38,-29.23,-220.79:99 -chr1 2605208 . C A 465.30 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=269;Dels=0.00;HRun=1;HaplotypeScore=227.21;MQ=26.15;MQ0=63;QD=1.73;SB=32.07 GT:AD:DP:GL:GQ 0/1:153,116:69:-70.60,-20.78,-175.32:99 -chr1 2605210 . C A 482.33 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=266;Dels=0.00;HRun=1;HaplotypeScore=189.40;MQ=26.42;MQ0=62;QD=1.81;SB=32.08 GT:AD:DP:GL:GQ 0/1:149,115:67:-71.70,-20.18,-161.20:99 -chr1 2605214 rs61082664 T C 967.30 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=276;Dels=0.00;HRun=2;HaplotypeScore=127.28;MQ=27.64;MQ0=60;QD=3.50;SB=23.10 GT:AD:DP:GL:GQ 0/1:97,178:76:-122.91,-22.90,-161.42:99 -chr1 2605243 . G T 751.64 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=305;Dels=0.00;HRun=1;HaplotypeScore=253.27;MQ=31.30;MQ0=36;QD=2.46;SB=71.20 GT:AD:DP:GL:GQ 0/1:173,132:102:-109.18,-30.73,-247.59:99 -chr1 2605244 rs28455054 T C 853.34 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=304;Dels=0.00;HRun=0;HaplotypeScore=224.13;MQ=31.61;MQ0=34;QD=2.81;SB=-69.58 GT:AD:DP:GL:GQ 0/1:99,183:104:-137.17,-48.55,-265.91:99 -chr1 2605247 . C T 78.33 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=307;Dels=0.00;HRun=0;HaplotypeScore=241.73;MQ=32.15;MQ0=30;QD=0.26;SB=92.28 GT:AD:DP:GL:GQ 0/1:261,44:108:-43.66,-32.54,-342.18:99 -chr1 2605252 . C A 302.63 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=316;Dels=0.00;HRun=1;HaplotypeScore=325.23;MQ=32.85;MQ0=33;QD=0.96;SB=113.24 GT:AD:DP:GL:GQ 0/1:197,119:109:-66.39,-32.84,-311.74:99 -chr1 2605255 rs55876897 A C 449.77 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=317;Dels=0.00;HRun=3;HaplotypeScore=260.93;MQ=33.01;MQ0=35;QD=1.42;SB=-150.70 GT:AD:DP:GL:GQ 0/1:239,77:117:-83.21,-34.95,-326.08:99 -chr1 2605259 rs56999649 T G 716.83 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=300;Dels=0.00;HRun=1;HaplotypeScore=227.19;MQ=34.47;MQ0=29;QD=2.39;SB=-184.23 GT:AD:DP:GL:GQ 0/1:116,182:121:-111.42,-36.45,-316.52:99 -chr1 2605264 rs4648676 C T 210.17 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=316;Dels=0.00;HRun=0;HaplotypeScore=557.56;MQ=35.06;MQ0=25;QD=0.67;SB=-21.82 GT:AD:DP:GL:GQ 0/1:289,24:136:-67.74,-43.44,-416.85:99 -chr1 2605334 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=408;Dels=0.00;HRun=4;HaplotypeScore=186.79;MQ=36.75;MQ0=7;OQ=1485.59;QD=3.64;SB=-538.59 GT:AD:DP:GL:GQ 0/1:275,118:294:-243.85,-92.01,-1014.23:99 -chr1 2605341 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=415;Dels=0.00;HRun=0;HaplotypeScore=229.92;MQ=36.33;MQ0=7;OQ=215.75;QD=0.52;SB=102.02 GT:AD:DP:GL:GQ 0/1:365,48:297:-114.34,-89.49,-957.91:99 -chr1 2605353 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=430;Dels=0.00;HRun=0;HaplotypeScore=200.04;MQ=35.29;MQ0=7;OQ=112.93;QD=0.26;SB=60.60 GT:AD:DP:GL:GQ 0/1:389,39:313:-108.94,-94.36,-1191.77:99 -chr1 2605354 rs4648678 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=435;Dels=0.00;HRun=0;HaplotypeScore=203.33;MQ=35.33;MQ0=8;OQ=1038.03;QD=2.39;SB=-273.03 GT:AD:DP:GL:GQ 0/1:373,60:307:-199.57,-92.49,-955.77:99 -chr1 2605374 rs61763535 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=451;Dels=0.00;HRun=4;HaplotypeScore=174.52;MQ=33.98;MQ0=15;OQ=1772.73;QD=3.93;SB=-155.11 GT:AD:DP:GL:GQ 0/1:257,185:286:-266.74,-86.18,-803.52:99 -chr1 2605416 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=641;Dels=0.00;HRun=0;HaplotypeScore=116.73;MQ=29.52;MQ0=38;OQ=101.05;QD=0.16;SB=-26.09 GT:AD:DP:GL:GQ 0/1:592,49:383:-128.76,-115.37,-1229.08:99 -chr1 2605473 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=505;Dels=0.00;HRun=1;HaplotypeScore=72.40;MQ=31.01;MQ0=19;OQ=529.76;QD=1.05;SB=-238.32 GT:AD:DP:GL:GQ 0/1:450,54:383:-171.63,-115.37,-1165.16:99 -chr1 2605495 rs56293461 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=486;Dels=0.00;HRun=0;HaplotypeScore=95.08;MQ=32.56;MQ0=15;OQ=821.52;QD=1.69;SB=-409.31 GT:AD:DP:GL:GQ 0/1:403,80:369:-196.58,-111.15,-1127.43:99 -chr1 2605529 rs28651038 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=428;Dels=0.00;HRun=0;HaplotypeScore=82.79;MQ=34.53;MQ0=16;OQ=2602.34;QD=6.08;SB=-653.43 GT:AD:DP:GL:GQ 0/1:288,123:298:-353.40,-89.88,-659.17:99 -chr1 2605657 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=389;Dels=0.01;HRun=3;HaplotypeScore=175.38;MQ=30.03;MQ0=70;OQ=99.64;QD=0.26;SB=74.25 GT:AD:DP:GL:GQ 0/1:326,61:215:-77.75,-64.51,-660.65:99 -chr1 2605686 . A C 325.50 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=398;Dels=0.00;HRun=0;HaplotypeScore=501.75;MQ=28.89;MQ0=57;QD=0.82;SB=95.28 GT:AD:DP:GL:GQ 0/1:281,115:207:-98.21,-62.38,-634.44:99 -chr1 2605688 . T C 330.54 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=397;Dels=0.00;HRun=2;HaplotypeScore=497.47;MQ=28.92;MQ0=57;QD=0.83;SB=65.64 GT:AD:DP:GL:GQ 0/1:226,152:200:-122.31,-85.97,-661.75:99 -chr1 2605695 rs55827558 C T 892.89 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=401;Dels=0.00;HRun=0;HaplotypeScore=534.98;MQ=29.24;MQ0=57;QD=2.23;SB=9.18 GT:AD:DP:GL:GQ 0/1:315,49:193:-153.53,-60.96,-575.72:99 -chr1 2605725 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=284;Dels=0.00;HRun=0;HaplotypeScore=360.95;MQ=32.85;MQ0=34;OQ=61.42;QD=0.22;SB=89.31 GT:AD:DP:GL:GQ 0/1:168,111:137:-50.75,-41.32,-529.65:94.25 -chr1 2605754 . C T 591.89 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=279;Dels=0.00;HRun=0;HaplotypeScore=467.58;MQ=37.63;MQ0=15;QD=2.12;SB=140.37 GT:AD:DP:GL:GQ 0/1:235,40:127:-100.77,-38.29,-327.93:99 -chr1 2605755 . G A 525.10 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=271;Dels=0.00;HRun=0;HaplotypeScore=436.48;MQ=37.79;MQ0=15;QD=1.94;SB=80.56 GT:AD:DP:GL:GQ 0/1:156,112:135:-96.50,-40.71,-357.83:99 -chr1 2605761 rs61763538 C G 1339.29 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=259;Dels=0.00;HRun=1;HaplotypeScore=254.24;MQ=38.34;MQ0=17;QD=5.17;SB=4.72 GT:AD:DP:GL:GQ 0/1:84,169:121:-173.69,-36.48,-327.29:99 -chr1 2605783 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=297;Dels=0.00;HRun=0;HaplotypeScore=293.73;MQ=35.79;MQ0=20;OQ=562.93;QD=1.90;SB=121.81 GT:AD:DP:GL:GQ 0/1:195,74:123:-135.97,-76.40,-335.89:99 -chr1 2605795 . G A 252.45 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=324;Dels=0.00;HRun=0;HaplotypeScore=499.11;MQ=34.45;MQ0=20;QD=0.78;SB=203.66 GT:AD:DP:GL:GQ 0/1:201,116:126:-66.49,-37.96,-390.94:99 -chr1 2605804 . C T 66.11 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=356;Dels=0.00;HRun=0;HaplotypeScore=268.83;MQ=34.41;MQ0=22;QD=0.19;SB=-31.15 GT:AD:DP:GL:GQ 0/1:312,39:152:-58.55,-48.66,-460.06:98.95 -chr1 2605805 . G A 2340.79 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=356;Dels=0.00;HRun=0;HaplotypeScore=224.04;MQ=34.36;MQ0=23;QD=6.58;SB=164.74 GT:AD:DP:GL:GQ 0/1:199,157:186:-293.46,-56.10,-343.74:99 -chr1 2605831 . C T 1118.55 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=295;Dels=0.00;HRun=0;HaplotypeScore=238.92;MQ=35.23;MQ0=23;QD=3.79;SB=174.98 GT:AD:DP:GL:GQ 0/1:220,69:156:-162.17,-47.03,-376.03:99 -chr1 2605834 . C T 954.45 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=279;Dels=0.00;HRun=0;HaplotypeScore=236.05;MQ=35.80;MQ0=20;QD=3.42;SB=200.51 GT:AD:DP:GL:GQ 0/1:218,59:162:-147.54,-48.81,-432.29:99 -chr1 2605836 . T G 306.78 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=263;Dels=0.00;HRun=0;HaplotypeScore=206.04;MQ=36.89;MQ0=20;QD=1.17;SB=188.58 GT:AD:DP:GL:GQ 0/1:205,52:142:-88.13,-54.17,-440.06:99 -chr1 2605841 . A G 545.99 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=232;Dels=0.00;HRun=1;HaplotypeScore=155.67;MQ=38.58;MQ0=20;QD=2.35;SB=182.62 GT:AD:DP:GL:GQ 0/1:160,70:131:-97.35,-39.47,-411.37:99 -chr1 2605874 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=232;Dels=0.00;HRun=0;HaplotypeScore=124.99;MQ=42.37;MQ0=11;OQ=512.21;QD=2.21;SB=-14.46 GT:AD:DP:GL:GQ 0/1:155,74:147:-102.43,-47.93,-470.53:99 -chr1 2605886 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=201;Dels=0.00;HRun=0;HaplotypeScore=108.30;MQ=44.38;MQ0=8;OQ=363.46;QD=1.81;SB=149.68 GT:AD:DP:GL:GQ 0/1:128,71:139:-81.51,-41.88,-451.45:99 -chr1 2605893 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=197;Dels=0.00;HRun=0;HaplotypeScore=120.52;MQ=42.83;MQ0=17;OQ=327.45;QD=1.66;SB=185.60 GT:AD:DP:GL:GQ 0/1:128,68:129:-77.12,-41.09,-417.50:99 -chr1 2605899 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=204;Dels=0.00;HRun=1;HaplotypeScore=109.97;MQ=40.67;MQ0=24;OQ=225.12;QD=1.10;SB=176.57 GT:AD:DP:GL:GQ 0/1:183,21:132:-65.55,-39.76,-408.38:99 -chr1 2605937 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=199;Dels=0.00;HRun=2;HaplotypeScore=54.75;MQ=35.12;MQ0=33;OQ=125.52;QD=0.63;SB=203.69 GT:AD:DP:GL:GQ 0/1:151,48:110:-48.99,-33.15,-378.43:99 -chr1 2605949 rs55869659 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=295;Dels=0.00;HRun=1;HaplotypeScore=266.34;MQ=30.03;MQ0=43;OQ=1589.71;QD=5.39;SB=-453.79 GT:AD:DP:GL:GQ 0/1:231,64:135:-202.93,-40.67,-294.60:99 -chr1 2605976 rs6683769 G C 6974.39 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=343;Dels=0.02;HRun=3;HaplotypeScore=423.51;MQ=29.44;MQ0=37;QD=20.33;SB=-2874.56 GT:AD:DP:GL:GQ 1/1:19,284:159:-696.44,-51.43,-8.07:99 -chr1 2605977 rs6661848 C T 1027.05 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=358;Dels=0.00;HRun=0;HaplotypeScore=456.32;MQ=29.31;MQ0=37;QD=2.87;SB=-210.09 GT:AD:DP:GL:GQ 0/1:307,50:125:-143.65,-37.67,-316.41:99 -chr1 2605979 . C A 1028.24 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=357;Dels=0.00;HRun=1;HaplotypeScore=354.37;MQ=29.31;MQ0=37;QD=2.88;SB=152.21 GT:AD:DP:GL:GQ 0/1:297,56:154:-152.50,-46.39,-400.06:99 -chr1 2605985 . A G 302.88 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=344;Dels=0.00;HRun=1;HaplotypeScore=327.75;MQ=29.96;MQ0=33;QD=0.88;SB=170.59 GT:AD:DP:GL:GQ 0/1:269,70:128:-72.14,-38.56,-425.79:99 -chr1 2606004 . C T 951.09 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=290;Dels=0.00;HRun=0;HaplotypeScore=672.95;MQ=32.63;MQ0=23;QD=3.28;SB=87.89 GT:AD:DP:GL:GQ 0/1:220,66:128:-136.98,-38.59,-302.88:99 -chr1 2606005 rs6683777 G A 1342.36 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=287;Dels=0.00;HRun=0;HaplotypeScore=631.13;MQ=33.21;MQ0=21;QD=4.68;SB=-76.00 GT:AD:DP:GL:GQ 0/1:85,177:126:-230.50,-92.98,-257.82:99 -chr1 2606006 rs57008511 G T 1549.99 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=289;Dels=0.00;HRun=0;HaplotypeScore=644.99;MQ=33.16;MQ0=21;QD=5.36;SB=-385.70 GT:AD:DP:GL:GQ 0/1:228,60:127:-196.55,-38.27,-243.78:99 -chr1 2606009 . A T 459 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=281;Dels=0.00;HRun=0;HaplotypeScore=430.52;MQ=33.69;MQ0=19;QD=1.63;SB=105.62 GT:AD:DP:GL:GQ 0/1:113,66:123:-152.84,-103.65,-371.87:99 -chr1 2606031 . C G 597.38 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=222;Dels=0.00;HRun=1;HaplotypeScore=164.77;MQ=37.58;MQ0=8;QD=2.69;SB=139.07 GT:AD:DP:GL:GQ 0/1:114,51:127:-143.77,-80.75,-412.83:99 -chr1 2606038 . C A 277.03 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=217;Dels=0.00;HRun=0;HaplotypeScore=107.00;MQ=38.94;MQ0=8;QD=1.28;SB=120.78 GT:AD:DP:GL:GQ 0/1:160,54:121:-67.44,-36.45,-363.09:99 -chr1 2606041 . G T 124.23 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=206;Dels=0.00;HRun=0;HaplotypeScore=125.82;MQ=39.98;MQ0=7;QD=0.60;SB=144.54 GT:AD:DP:GL:GQ 0/1:161,44:113:-49.75,-34.04,-340.70:99 -chr1 2606206 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=315;Dels=0.00;HRun=1;HaplotypeScore=256.44;MQ=28.06;MQ0=39;OQ=155.48;QD=0.49;SB=-29.90 GT:AD:DP:GL:GQ 0/1:209,63:107:-66.50,-47.67,-397.67:99 -chr1 2606217 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=250;Dels=0.00;HRun=3;HaplotypeScore=224.65;MQ=29.86;MQ0=28;OQ=458.20;QD=1.83;SB=-95.78 GT:AD:DP:GL:GQ 0/1:87,160:81:-76.54,-27.44,-208.99:99 -chr1 2606220 rs36162961 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=249;Dels=0.00;HRun=0;HaplotypeScore=180.31;MQ=29.93;MQ0=27;OQ=201.47;QD=0.81;SB=-7.21 GT:AD:DP:GL:GQ 0/1:213,32:103:-54.47,-31.04,-311.81:99 -chr1 2606247 rs6662065 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=58.65;MQ=36.60;MQ0=15;OQ=2337.23;QD=14.98;SB=-1097.47 GT:AD:DP:GL:GQ 0/1:41,86:97:-280.18,-43.17,-102.47:99 -chr1 2606279 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=122;Dels=0.00;HRun=1;HaplotypeScore=25.92;MQ=42.76;MQ0=2;OQ=312.76;QD=2.56;SB=-74.63 GT:AD:DP:GL:GQ 0/1:94,28:104:-65.90,-31.34,-343.27:99 -chr1 2606294 rs28562476 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=129;Dels=0.00;HRun=0;HaplotypeScore=45.48;MQ=41.64;MQ0=3;OQ=158.71;QD=1.23;SB=-91.27 GT:AD:DP:GL:GQ 0/1:99,30:98:-48.69,-29.54,-326.61:99 -chr1 2606300 rs6662172 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=148;Dels=0.00;HRun=1;HaplotypeScore=45.57;MQ=40.35;MQ0=4;OQ=2445.81;QD=16.53;SB=-1064.82 GT:AD:DP:GL:GQ 0/1:63,84:112:-281.60,-33.73,-119.13:99 -chr1 2606379 rs28410393 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=27.63;MQ=39.78;MQ0=6;OQ=368.46;QD=3.02;SB=6.71 GT:AD:DP:GL:GQ 0/1:95,26:92:-67.86,-27.73,-327.77:99 -chr1 2606380 rs28520729 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=27.50;MQ=39.82;MQ0=6;OQ=559.99;QD=4.71;SB=-194.85 GT:AD:DP:GL:GQ 0/1:94,25:96:-88.22,-28.94,-322.33:99 -chr1 2606465 rs28436923 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=131.13;MQ=40.98;MQ0=13;OQ=2035.71;QD=13.85;SB=-905.49 GT:AD:DP:GL:GQ 0/1:80,64:81:-231.26,-24.41,-73.56:99 -chr1 2606518 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=186;Dels=0.00;HRun=0;HaplotypeScore=218.01;MQ=25.24;MQ0=20;OQ=216.97;QD=1.17;SB=68.19 GT:AD:DP:GL:GQ 0/1:119,56:69:-45.78,-20.79,-195.94:99 -chr1 2606520 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=182;Dels=0.01;HRun=1;HaplotypeScore=197.55;MQ=24.90;MQ0=18;OQ=425.87;QD=2.34;SB=7.72 GT:AD:DP:GL:GQ 0/1:98,71:68:-66.40,-20.53,-203.96:99 -chr1 2606555 rs55641610 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=142;Dels=0.00;HRun=0;HaplotypeScore=86.83;MQ=22.44;MQ0=15;OQ=611.31;QD=4.31;SB=-217.67 GT:AD:DP:GL:GQ 0/1:66,72:64:-83.70,-19.29,-186.04:99 -chr1 2606567 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=132;Dels=0.00;HRun=1;HaplotypeScore=115.34;MQ=22.30;MQ0=19;OQ=114.64;QD=0.87;SB=-3.31 GT:AD:DP:GL:GQ 0/1:113,14:59:-32.52,-17.77,-180.72:99 -chr1 2606594 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=120;Dels=0.00;HRun=0;HaplotypeScore=41.70;MQ=23.56;MQ0=16;OQ=75.03;QD=0.63;SB=28.48 GT:AD:DP:GL:GQ 0/1:83,36:66:-30.68,-19.89,-255.45:99 -chr1 2606643 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=112;Dels=0.00;HRun=0;HaplotypeScore=21.80;MQ=30.64;MQ0=12;OQ=1721.23;QD=15.37;SB=-793.00 GT:AD:DP:GL:GQ 0/1:46,66:82:-200.11,-24.70,-94.60:99 -chr1 2606798 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=16.08;MQ=18.33;MQ0=33;OQ=155.22;QD=2.13;SB=-92.26 GT:AD:DP:GL:GQ 0/1:36,34:23:-29.36,-10.56,-75.52:99 -chr1 2607095 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=174;Dels=0.00;HRun=0;HaplotypeScore=115.98;MQ=20.76;MQ0=93;OQ=63.80;QD=0.37;SB=-35.41 GT:AD:DP:GL:GQ 0/1:164,10:54:-25.95,-16.29,-195.04:96.63 -chr1 2607127 rs28555663 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=120;Dels=0.00;HRun=0;HaplotypeScore=71.01;MQ=31.05;MQ0=18;OQ=1628.35;QD=13.57;SB=-397.76 GT:AD:DP:GL:GQ 0/1:27,60:78:-215.41,-49.30,-93.76:99 -chr1 2607162 rs61763542 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=215;Dels=0.00;HRun=1;HaplotypeScore=85.56;MQ=29.70;MQ0=30;OQ=368.13;QD=1.71;SB=-56.56 GT:AD:DP:GL:GQ 0/1:178,35:124:-77.45,-37.35,-360.47:99 -chr1 2607163 . G A 13.12 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=217;Dels=0.00;HRun=2;HaplotypeScore=87.56;MQ=29.61;MQ0=31;QD=0.06;SB=-11.83 GT:AD:DP:GL:GQ 0/1:187,28:129:-43.44,-38.86,-425.52:45.74 -chr1 2607204 . G C 43.54 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=196;Dels=0.00;HRun=0;HaplotypeScore=43.04;MQ=31.64;MQ0=30;QD=0.22;SB=-29.18 GT:AD:DP:GL:GQ 0/1:170,26:109:-40.50,-32.86,-424.67:76.37 -chr1 2607231 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=145;Dels=0.00;HRun=1;HaplotypeScore=72.77;MQ=31.17;MQ0=24;OQ=125.47;QD=0.87;SB=-42.71 GT:AD:DP:GL:GQ 0/1:125,19:75:-38.43,-22.60,-228.94:99 -chr1 2607242 rs61763545 G T 46.85 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=36.90;MQ=31.04;MQ0=29;QD=0.40;SB=43.89 GT:AD:DP:GL:GQ 0/1:84,30:54:-24.25,-16.28,-154.98:79.69 -chr1 2607298 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=148;Dels=0.00;HRun=0;HaplotypeScore=68.12;MQ=14.41;MQ0=82;OQ=66.90;QD=0.45;SB=20.86 GT:AD:DP:GL:GQ 0/1:129,10:21:-19.87,-9.89,-58.18:99 -chr1 2607355 rs61765818 C T 12.91 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=56.37;MQ=16.61;MQ0=62;QD=0.11;SB=29.06 GT:AD:DP:GL:GQ 0/1:90,27:23:-11.49,-6.94,-61.93:45.51 -chr1 2607366 . A G 13.05 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=108;Dels=0.00;HRun=2;HaplotypeScore=34.50;MQ=17.10;MQ0=55;QD=0.12;SB=29.12 GT:AD:DP:GL:GQ 0/1:102,6:22:-11.19,-6.63,-75.23:45.67 -chr1 2607368 rs61763546 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=35.70;MQ=17.26;MQ0=53;OQ=303.93;QD=2.87;SB=-146.92 GT:AD:DP:GL:GQ 0/1:46,59:26:-41.51,-7.84,-47.60:99 -chr1 2607409 . G A 15.60 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=0;HaplotypeScore=56.89;MQ=28.46;MQ0=6;QD=0.24;SB=38.64 GT:AD:DP:GL:GQ 0/1:41,24:37:-15.99,-11.15,-106.07:48.31 -chr1 2607422 rs56133135 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=3;HaplotypeScore=19.37;MQ=32.69;MQ0=0;OQ=693.38;QD=12.61;SB=2.03 GT:AD:DP:GL:GQ 0/1:26,28:39:-84.38,-11.76,-83.37:99 -chr1 2607465 rs61763547 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=40.98;MQ=25.86;MQ0=35;OQ=388.51;QD=4.63;SB=-36.91 GT:AD:DP:GL:GQ 0/1:60,23:42:-54.79,-12.65,-94.92:99 -chr1 2607520 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=176;Dels=0.00;HRun=1;HaplotypeScore=43.55;MQ=22.90;MQ0=79;OQ=121.23;QD=0.69;SB=8.68 GT:AD:DP:GL:GQ 0/1:158,14:67:-35.59,-20.18,-205.83:99 -chr1 2607562 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=147;Dels=0.00;HRun=0;HaplotypeScore=58.31;MQ=31.97;MQ0=28;OQ=222.37;QD=1.51;SB=-108.77 GT:AD:DP:GL:GQ 0/1:118,16:74:-51.32,-25.80,-191.60:99 -chr1 2607568 rs61763549 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=80.59;MQ=33.84;MQ0=16;OQ=1066.74;QD=7.90;SB=-480.14 GT:AD:DP:GL:GQ 0/1:64,70:72:-131.67,-21.72,-176.26:99 -chr1 2607579 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=159;Dels=0.00;HRun=1;HaplotypeScore=59.49;MQ=32.83;MQ0=15;OQ=376.87;QD=2.37;SB=-134.64 GT:AD:DP:GL:GQ 0/1:129,30:89:-67.78,-26.81,-244.98:99 -chr1 2607622 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=166;Dels=0.00;HRun=1;HaplotypeScore=74.61;MQ=28.79;MQ0=41;OQ=121.71;QD=0.73;SB=1.49 GT:AD:DP:GL:GQ 0/1:144,22:68:-35.94,-20.49,-206.61:99 -chr1 2607635 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=177;Dels=0.00;HRun=1;HaplotypeScore=30.67;MQ=24.43;MQ0=69;OQ=168.44;QD=0.95;SB=-26.38 GT:AD:DP:GL:GQ 0/1:144,24:48:-34.61,-14.49,-156.01:99 -chr1 2607650 . G A 36.08 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=194;Dels=0.00;HRun=1;HaplotypeScore=75.42;MQ=22.15;MQ0=92;QD=0.19;SB=17.06 GT:AD:DP:GL:GQ 0/1:183,11:48:-21.35,-14.46,-155.19:68.92 -chr1 2607670 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=229;Dels=0.00;HRun=0;HaplotypeScore=160.50;MQ=16.74;MQ0=141;OQ=99.29;QD=0.43;SB=62.11 GT:AD:DP:GL:GQ 0/1:219,9:33:-23.18,-9.97,-80.62:99 -chr1 2607674 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=226;Dels=0.00;HRun=0;HaplotypeScore=115.26;MQ=15.31;MQ0=147;OQ=144.37;QD=0.64;SB=59.23 GT:AD:DP:GL:GQ 0/1:144,82:32:-27.37,-9.65,-111.07:99 -chr1 2607705 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=307;Dels=0.00;HRun=0;HaplotypeScore=135.41;MQ=9.50;MQ0=238;OQ=88.23;QD=0.29;SB=44.16 GT:AD:DP:GL:GQ 0/1:293,13:26:-19.94,-7.83,-70.73:99 -chr1 2607732 . A G 46.69 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=264;Dels=0.00;HRun=0;HaplotypeScore=160.28;MQ=9.40;MQ0=205;QD=0.18;SB=38.16 GT:AD:DP:GL:GQ 0/1:246,15:21:-14.28,-6.33,-70.03:79.52 -chr1 2607768 . C G 49.76 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=164;Dels=0.00;HRun=0;HaplotypeScore=95.94;MQ=10.01;MQ0=124;QD=0.30;SB=-3.98 GT:AD:DP:GL:GQ 0/1:136,25:16:-13.08,-4.82,-52.20:82.60 -chr1 2607891 rs7416366 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=122;Dels=0.00;HRun=0;HaplotypeScore=58.84;MQ=34.41;MQ0=14;OQ=1644.48;QD=13.48;SB=-506.65 GT:AD:DP:GL:GQ 0/1:59,63:73:-189.73,-22.00,-69.36:99 -chr1 2607919 . C G 24.55 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=221;Dels=0.00;HRun=0;HaplotypeScore=83.78;MQ=30.54;MQ0=25;QD=0.11;SB=109.84 GT:AD:DP:GL:GQ 0/1:205,16:120:-41.91,-36.17,-462.22:57.38 -chr1 2607925 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=225;Dels=0.00;HRun=1;HaplotypeScore=102.41;MQ=29.59;MQ0=28;OQ=208.07;QD=0.92;SB=12.89 GT:AD:DP:GL:GQ 0/1:171,51:116:-59.04,-34.95,-344.67:99 -chr1 2607990 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=215;Dels=0.00;HRun=0;HaplotypeScore=62.53;MQ=19.75;MQ0=60;OQ=143.02;QD=0.67;SB=-11.93 GT:AD:DP:GL:GQ 0/1:169,45:70:-38.68,-21.10,-211.21:99 -chr1 2608016 rs61763552 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=154;Dels=0.00;HRun=1;HaplotypeScore=33.08;MQ=18.38;MQ0=35;OQ=157.73;QD=1.02;SB=-56.91 GT:AD:DP:GL:GQ 0/1:74,80:55:-35.63,-16.57,-153.82:99 -chr1 2608035 rs60386739 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=68.10;MQ=20.23;MQ0=19;OQ=139.83;QD=0.99;SB=-34.61 GT:AD:DP:GL:GQ 0/1:123,11:68:-37.75,-20.49,-226.75:99 -chr1 2608187 . T A 19.78 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=144;Dels=0.00;HRun=0;HaplotypeScore=100.91;MQ=20.82;MQ0=35;QD=0.14;SB=68.21 GT:AD:DP:GL:GQ 0/1:73,68:45:-18.82,-13.56,-139.70:52.57 -chr1 2608269 rs28464857 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=186;Dels=0.00;HRun=0;HaplotypeScore=134.04;MQ=20.25;MQ0=84;OQ=169.32;QD=0.91;SB=-92.57 GT:AD:DP:GL:GQ 0/1:170,15:57:-37.38,-17.17,-176.94:99 -chr1 2608484 rs28436796 C G 0.48 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=9.24;MQ=47.84;MQ0=1;OQ=487.04;QD=5.47;SB=-196.59 GT:AD:DP:GL:GQ 0/1:66,21:74:-74.31,-22.32,-232.63:99 -chr1 2608664 rs4074927 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=182;Dels=0.01;HRun=1;HaplotypeScore=99.89;MQ=34.06;MQ0=19;OQ=2375.90;QD=13.05;SB=-939.83 GT:AD:DP:GL:GQ 0/1:91,85:111:-274.32,-33.45,-107.97:99 -chr1 2608867 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=118;Dels=0.01;HRun=2;HaplotypeScore=20.49;MQ=45.47;MQ0=7;OQ=974.46;QD=8.26;SB=-210.08 GT:AD:DP:GL:GQ 0/1:62,55:87:-126.99,-26.26,-221.81:99 -chr1 2609068 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=221;Dels=0.00;HRun=3;HaplotypeScore=118.35;MQ=34.13;MQ0=24;OQ=526.94;QD=2.38;SB=137.47 GT:AD:DP:GL:GQ 0/1:93,112:118:-95.11,-39.14,-362.67:99 -chr1 2609088 rs6604995 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=244;Dels=0.00;HRun=1;HaplotypeScore=80.61;MQ=35.58;MQ0=31;OQ=2415.96;QD=9.90;SB=-1183.52 GT:AD:DP:GL:GQ 0/1:168,75:136:-285.85,-40.97,-232.15:99 -chr1 2609117 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=242;Dels=0.00;HRun=0;HaplotypeScore=86.85;MQ=40.05;MQ0=22;OQ=564.86;QD=2.33;SB=136.90 GT:AD:DP:GL:GQ 0/1:188,54:147:-104.06,-44.29,-429.75:99 -chr1 2609119 . T A 10.35 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=240;Dels=0.00;HRun=1;HaplotypeScore=66.02;MQ=40.40;MQ0=19;QD=0.04;SB=-13.71 GT:AD:DP:GL:GQ 0/1:216,24:153:-50.36,-46.09,-521.00:42.77 -chr1 2609136 rs6680012 T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=252;Dels=0.00;HRun=0;HaplotypeScore=138.11;MQ=41.19;MQ0=14;OQ=1288.83;QD=5.11;SB=-20.42 GT:AD:DP:GL:GQ 0/1:111,140:159:-180.06,-47.89,-385.06:99 -chr1 2609225 rs61765683 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=279;Dels=0.00;HRun=0;HaplotypeScore=196.30;MQ=28.44;MQ0=55;OQ=715.74;QD=2.57;SB=-196.88 GT:AD:DP:GL:GQ 0/1:215,53:119:-124.19,-49.34,-290.35:99 -chr1 2609273 rs4648680 A T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=189;Dels=0.00;HRun=0;HaplotypeScore=41.61;MQ=19.84;MQ0=34;OQ=2444.19;QD=12.93;SB=-891.61 GT:AD:DP:GL:GQ 1/1:0,186:71:-248.05,-21.40,-0.04:99 -chr1 2609305 rs6672446 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=196;Dels=0.00;HRun=1;HaplotypeScore=44.27;MQ=21.28;MQ0=40;OQ=1443.42;QD=7.36;SB=-313.15 GT:AD:DP:GL:GQ 0/1:121,75:90:-174.74,-27.11,-141.16:99 -chr1 2609332 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=191;Dels=0.00;HRun=1;HaplotypeScore=25.23;MQ=24.42;MQ0=31;OQ=1010.88;QD=5.29;SB=-411.33 GT:AD:DP:GL:GQ 0/1:130,60:101:-134.82,-30.45,-224.41:99 -chr1 2609354 rs61765685 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=264;Dels=0.00;HRun=0;HaplotypeScore=43.36;MQ=26.38;MQ0=47;OQ=877.95;QD=3.33;SB=-290.40 GT:AD:DP:GL:GQ 0/1:123,140:122:-127.86,-36.78,-326.56:99 -chr1 2609381 . C A 220.25 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=378;Dels=0.00;HRun=0;HaplotypeScore=205.42;MQ=26.54;MQ0=63;QD=0.58;SB=-92.16 GT:AD:DP:GL:GQ 0/1:327,50:132:-65.07,-39.76,-400.14:99 -chr1 2609387 . C A 185.57 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=439;Dels=0.00;HRun=0;HaplotypeScore=250.48;MQ=26.77;MQ0=67;QD=0.42;SB=5.95 GT:AD:DP:GL:GQ 0/1:387,52:145:-65.52,-43.68,-445.14:99 -chr1 2609389 . C T 92.18 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=450;Dels=0.00;HRun=0;HaplotypeScore=251.37;MQ=26.71;MQ0=67;QD=0.20;SB=175.01 GT:AD:DP:GL:GQ 0/1:391,58:155:-59.19,-46.69,-504.94:99 -chr1 2609452 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=378;Dels=0.00;HRun=2;HaplotypeScore=241.26;MQ=31.94;MQ0=54;OQ=971.37;QD=2.57;SB=-357.67 GT:AD:DP:GL:GQ 0/1:305,73:146:-144.40,-43.98,-395.70:99 -chr1 2609455 rs58318704 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=356;Dels=0.00;HRun=0;HaplotypeScore=220.51;MQ=31.91;MQ0=49;OQ=2158.97;QD=6.06;SB=-1017.43 GT:AD:DP:GL:GQ 0/1:79,219:141:-270.22,-51.04,-310.17:99 -chr1 2609547 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=187;Dels=0.00;HRun=1;HaplotypeScore=66.94;MQ=35.31;MQ0=17;OQ=674.03;QD=3.60;SB=-244.40 GT:AD:DP:GL:GQ 0/1:135,50:133:-110.75,-40.07,-356.06:99 -chr1 2609555 rs28575476 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=171;Dels=0.00;HRun=0;HaplotypeScore=68.51;MQ=35.35;MQ0=12;OQ=1288.35;QD=7.53;SB=-481.51 GT:AD:DP:GL:GQ 0/1:88,78:120:-168.27,-36.15,-252.36:99 -chr1 2609591 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=172;Dels=0.00;HRun=0;HaplotypeScore=34.97;MQ=33.84;MQ0=11;OQ=2484.13;QD=14.44;SB=-938.03 GT:AD:DP:GL:GQ 0/1:84,88:135:-292.43,-40.73,-257.29:99 -chr1 2609644 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=353;Dels=0.00;HRun=1;HaplotypeScore=213.12;MQ=29.19;MQ0=26;OQ=1530.86;QD=4.34;SB=-311.00 GT:AD:DP:GL:GQ 0/1:205,118:177:-209.80,-53.43,-491.62:99 -chr1 2609668 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=375;Dels=0.01;HRun=0;HaplotypeScore=299.53;MQ=28.31;MQ0=38;OQ=119.51;QD=0.32;SB=-39.52 GT:AD:DP:GL:GQ 0/1:330,33:168:-65.89,-50.66,-484.68:99 -chr1 2609669 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=370;Dels=0.01;HRun=3;HaplotypeScore=295.29;MQ=28.20;MQ0=38;OQ=509.10;QD=1.38;SB=-148.65 GT:AD:DP:GL:GQ 0/1:202,146:144:-97.68,-43.48,-474.43:99 -chr1 2609682 . T C 10.13 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=358;Dels=0.00;HRun=1;HaplotypeScore=318.76;MQ=28.20;MQ0=43;QD=0.03;SB=29.61 GT:AD:DP:GL:GQ 0/1:328,21:141:-56.49,-52.23,-495.36:42.52 -chr1 2609688 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=357;Dels=0.00;HRun=0;HaplotypeScore=304.49;MQ=28.68;MQ0=43;OQ=540.31;QD=1.51;SB=-146.86 GT:AD:DP:GL:GQ 0/1:288,44:135:-97.99,-40.67,-405.76:99 -chr1 2609713 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=325;Dels=0.00;HRun=2;HaplotypeScore=235.46;MQ=29.07;MQ0=50;OQ=183.31;QD=0.56;SB=-70.06 GT:AD:DP:GL:GQ 0/1:293,30:98:-51.18,-29.56,-309.43:99 -chr1 2609764 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=179;Dels=0.00;HRun=1;HaplotypeScore=67.69;MQ=41.15;MQ0=28;OQ=547.70;QD=3.06;SB=-220.32 GT:AD:DP:GL:GQ 0/1:154,22:97:-87.34,-29.29,-296.73:99 -chr1 2609770 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=175;Dels=0.00;HRun=0;HaplotypeScore=51.04;MQ=41.72;MQ0=28;OQ=50.39;QD=0.29;SB=107.80 GT:AD:DP:GL:GQ 0/1:92,83:96:-37.25,-28.93,-332.67:83.23 -chr1 2609843 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=136;Dels=0.00;HRun=0;HaplotypeScore=18.24;MQ=41.49;MQ0=22;OQ=514.69;QD=3.78;SB=-103.96 GT:AD:DP:GL:GQ 0/1:89,47:97:-83.99,-29.23,-261.15:99 -chr1 2609879 rs60995822 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=124;Dels=0.00;HRun=0;HaplotypeScore=53.77;MQ=31.75;MQ0=20;OQ=1688.97;QD=13.62;SB=-590.07 GT:AD:DP:GL:GQ 0/1:21,102:69:-192.97,-20.79,-48.84:99 -chr1 2609938 rs61765691 T C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=210;Dels=0.00;HRun=0;HaplotypeScore=78.06;MQ=23.32;MQ0=40;OQ=3717.12;QD=17.70;SB=-1751.06 GT:AD:DP:GL:GQ 1/1:3,206:105:-370.71,-31.64,-0.05:99 -chr1 2610024 rs60041779 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=93.88;MQ=40.95;MQ0=10;OQ=112.09;QD=0.90;SB=83.51 GT:AD:DP:GL:GQ 0/1:77,47:69:-35.30,-20.81,-248.60:99 -chr1 2610174 rs61765693 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=331;Dels=0.00;HRun=1;HaplotypeScore=45.52;MQ=28.55;MQ0=47;OQ=762.69;QD=2.30;SB=-121.02 GT:AD:DP:GL:GQ 0/1:162,168:127:-117.91,-38.35,-381.81:99 -chr1 2610186 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=354;Dels=0.00;HRun=0;HaplotypeScore=102.42;MQ=26.42;MQ0=47;OQ=1467.29;QD=4.14;SB=-129.66 GT:AD:DP:GL:GQ 0/1:303,49:127:-191.55,-41.54,-284.06:99 -chr1 2610220 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=358;Dels=0.00;HRun=0;HaplotypeScore=158.15;MQ=26.10;MQ0=33;OQ=52.73;QD=0.15;SB=-33.83 GT:AD:DP:GL:GQ 0/1:323,33:128:-47.12,-38.57,-405.99:85.57 -chr1 2610228 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=347;Dels=0.00;HRun=0;HaplotypeScore=258.31;MQ=25.86;MQ0=32;OQ=417.23;QD=1.20;SB=-217.33 GT:AD:DP:GL:GQ 0/1:235,103:129:-86.15,-41.14,-407.87:99 -chr1 2610288 rs61765694 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=240;Dels=0.00;HRun=0;HaplotypeScore=161.76;MQ=34.28;MQ0=24;OQ=460.60;QD=1.92;SB=-235.27 GT:AD:DP:GL:GQ 0/1:119,106:122:-91.58,-42.24,-307.51:99 -chr1 2610304 rs57887432 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=214;Dels=0.00;HRun=1;HaplotypeScore=126.12;MQ=34.24;MQ0=19;OQ=2078.47;QD=9.71;SB=-912.59 GT:AD:DP:GL:GQ 0/1:141,72:106:-243.09,-31.96,-204.85:99 -chr1 2610325 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=155;Dels=0.00;HRun=0;HaplotypeScore=58.60;MQ=38.14;MQ0=8;OQ=610.61;QD=3.94;SB=-307.83 GT:AD:DP:GL:GQ 0/1:117,38:94:-92.67,-28.33,-261.00:99 -chr1 2610342 rs58318302 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=64.33;MQ=41.99;MQ0=6;OQ=1628.60;QD=14.67;SB=-308.68 GT:AD:DP:GL:GQ 0/1:43,66:83:-191.15,-25.00,-121.94:99 -chr1 2610414 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=331;Dels=0.00;HRun=0;HaplotypeScore=235.51;MQ=30.47;MQ0=22;OQ=935.47;QD=2.83;SB=-429.72 GT:AD:DP:GL:GQ 0/1:275,53:139:-142.25,-45.42,-348.13:99 -chr1 2610415 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=337;Dels=0.00;HRun=1;HaplotypeScore=237.48;MQ=30.55;MQ0=22;OQ=1122.12;QD=3.33;SB=-419.64 GT:AD:DP:GL:GQ 0/1:156,170:150:-188.30,-72.80,-443.59:99 -chr1 2610441 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=398;Dels=0.00;HRun=0;HaplotypeScore=305.07;MQ=30.41;MQ0=29;OQ=523.24;QD=1.31;SB=-254.15 GT:AD:DP:GL:GQ 0/1:145,184:159:-118.96,-63.35,-451.63:99 -chr1 2610473 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=351;Dels=0.00;HRun=1;HaplotypeScore=331.68;MQ=29.41;MQ0=37;OQ=1376.69;QD=3.92;SB=-162.02 GT:AD:DP:GL:GQ 0/1:286,64:127:-179.22,-38.27,-253.78:99 -chr1 2610474 rs28418735 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=350;Dels=0.03;HRun=3;HaplotypeScore=309.89;MQ=29.49;MQ0=38;OQ=65.43;QD=0.19;SB=221.76 GT:AD:DP:GL:GQ 0/1:271,68:132:-49.66,-39.83,-486.19:98.27 -chr1 2610506 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=199;Dels=0.00;HRun=0;HaplotypeScore=143.13;MQ=32.96;MQ0=24;OQ=241.48;QD=1.21;SB=-28.90 GT:AD:DP:GL:GQ 0/1:85,107:74:-49.73,-22.29,-227.60:99 -chr1 2610517 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=164;Dels=0.00;HRun=3;HaplotypeScore=142.26;MQ=34.55;MQ0=20;OQ=220.80;QD=1.35;SB=75.68 GT:AD:DP:GL:GQ 0/1:65,82:63:-52.24,-26.88,-202.10:99 -chr1 2610573 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=168;Dels=0.00;HRun=0;HaplotypeScore=104.72;MQ=37.56;MQ0=8;OQ=553.10;QD=3.29;SB=-39.90 GT:AD:DP:GL:GQ 0/1:88,80:80:-82.71,-24.12,-188.70:99 -chr1 2610594 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=122;Dels=0.02;HRun=0;HaplotypeScore=84.91;MQ=43.41;MQ0=3;OQ=1001.55;QD=8.21;SB=-522.00 GT:AD:DP:GL:GQ 0/1:52,66:81:-127.86,-24.42,-216.74:99 -chr1 2610598 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=129;Dels=0.00;HRun=2;HaplotypeScore=59.26;MQ=42.74;MQ0=3;OQ=1239.36;QD=9.61;SB=-593.34 GT:AD:DP:GL:GQ 0/1:51,77:86:-153.17,-25.95,-194.38:99 -chr1 2610632 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=184;Dels=0.00;HRun=0;HaplotypeScore=151.91;MQ=39.51;MQ0=6;OQ=369.19;QD=2.01;SB=-62.83 GT:AD:DP:GL:GQ 0/1:154,30:112:-73.95,-33.75,-316.70:99 -chr1 2610635 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=203;Dels=0.00;HRun=0;HaplotypeScore=139.15;MQ=38.51;MQ0=6;OQ=274.48;QD=1.35;SB=-41.80 GT:AD:DP:GL:GQ 0/1:164,37:123:-67.82,-37.08,-455.22:99 -chr1 2610665 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=215;Dels=0.00;HRun=1;HaplotypeScore=315.73;MQ=36.51;MQ0=11;OQ=1591.77;QD=7.40;SB=-670.77 GT:AD:DP:GL:GQ 0/1:149,65:109:-195.35,-32.89,-252.45:99 -chr1 2610712 rs55957791 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=278;Dels=0.00;HRun=0;HaplotypeScore=331.10;MQ=30.73;MQ0=38;OQ=351.17;QD=1.26;SB=50.69 GT:AD:DP:GL:GQ 0/1:157,116:120:-81.22,-42.82,-389.65:99 -chr1 2610714 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=276;Dels=0.03;HRun=1;HaplotypeScore=276.80;MQ=30.44;MQ0=40;OQ=799.29;QD=2.90;SB=-215.74 GT:AD:DP:GL:GQ 0/1:208,58:112:-116.35,-33.14,-272.42:99 -chr1 2610938 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=175;Dels=0.00;HRun=0;HaplotypeScore=61.08;MQ=40.33;MQ0=9;OQ=2312.34;QD=13.21;SB=-496.11 GT:AD:DP:GL:GQ 0/1:80,95:114:-268.87,-34.35,-152.15:99 -chr1 2610982 rs61765696 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=168;Dels=0.00;HRun=1;HaplotypeScore=77.40;MQ=36.09;MQ0=4;OQ=730.22;QD=4.35;SB=-250.72 GT:AD:DP:GL:GQ 0/1:133,34:93:-104.33,-28.02,-240.35:99 -chr1 2610988 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=177;Dels=0.00;HRun=2;HaplotypeScore=104.66;MQ=37.43;MQ0=4;OQ=180.91;QD=1.02;SB=-14.66 GT:AD:DP:GL:GQ 0/1:124,53:103:-52.42,-31.04,-397.79:99 -chr1 2611005 rs28657620 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=175;Dels=0.00;HRun=0;HaplotypeScore=240.92;MQ=35.09;MQ0=11;OQ=589.04;QD=3.37;SB=-319.71 GT:AD:DP:GL:GQ 0/1:148,26:83:-87.21,-25.02,-177.35:99 -chr1 2611008 rs61765697 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=177;Dels=0.00;HRun=0;HaplotypeScore=268.58;MQ=34.75;MQ0=11;OQ=814.23;QD=4.60;SB=-203.16 GT:AD:DP:GL:GQ 0/1:94,75:81:-109.12,-24.42,-183.44:99 -chr1 2611037 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=212;Dels=0.00;HRun=3;HaplotypeScore=47.75;MQ=33.75;MQ0=25;OQ=310.37;QD=1.46;SB=128.35 GT:AD:DP:GL:GQ 0/1:180,32:105:-65.95,-31.63,-301.79:99 -chr1 2611075 . C A 675.15 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=198;Dels=0.00;HRun=0;HaplotypeScore=289.45;MQ=35.67;MQ0=15;QD=3.41;SB=-245.12 GT:AD:DP:GL:GQ 0/1:138,49:92:-105.75,-34.95,-225.78:99 -chr1 2611076 . C A 59.41 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=199;Dels=0.00;HRun=0;HaplotypeScore=288.77;MQ=35.79;MQ0=15;QD=0.30;SB=-43.36 GT:AD:DP:GL:GQ 0/1:179,20:91:-36.64,-27.42,-281.03:92.25 -chr1 2611077 . T C 1287 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=199;Dels=0.00;HRun=3;HaplotypeScore=272.49;MQ=35.97;MQ0=16;QD=6.47;SB=-518.91 GT:AD:DP:GL:GQ 0/1:56,142:93:-160.01,-28.02,-190.32:99 -chr1 2611149 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=243;Dels=0.00;HRun=0;HaplotypeScore=128.93;MQ=29.89;MQ0=30;OQ=118.35;QD=0.49;SB=-20.53 GT:AD:DP:GL:GQ 0/1:190,53:92:-42.83,-27.72,-276.95:99 -chr1 2611155 rs61765698 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=245;Dels=0.00;HRun=0;HaplotypeScore=130.50;MQ=30.96;MQ0=25;OQ=203.44;QD=0.83;SB=-29.37 GT:AD:DP:GL:GQ 0/1:191,50:97:-52.56,-28.94,-359.64:99 -chr1 2611193 rs61029569 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=154;Dels=0.01;HRun=0;HaplotypeScore=78.67;MQ=38.69;MQ0=8;OQ=1417.86;QD=9.21;SB=-633.08 GT:AD:DP:GL:GQ 0/1:43,100:84:-170.37,-25.30,-121.64:99 -chr1 2611212 rs28774982 C G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=125;Dels=0.00;HRun=0;HaplotypeScore=29.20;MQ=42.14;MQ0=3;OQ=3660.18;QD=29.28;SB=-1724.01 GT:AD:DP:GL:GQ 1/1:0,124:85:-365.02,-25.61,-0.03:99 -chr1 2611218 rs28581654 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=132;Dels=0.00;HRun=1;HaplotypeScore=33.13;MQ=42.84;MQ0=2;OQ=1779.64;QD=13.48;SB=-735.33 GT:AD:DP:GL:GQ 0/1:39,85:92:-211.73,-30.48,-139.53:99 -chr1 2611236 rs61765699 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=181;Dels=0.00;HRun=1;HaplotypeScore=137.95;MQ=39.80;MQ0=14;OQ=1598.49;QD=8.83;SB=-821.38 GT:AD:DP:GL:GQ 0/1:99,78:96:-192.06,-28.93,-137.58:99 -chr1 2611310 . G C 25 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=214;Dels=0.00;HRun=2;HaplotypeScore=68.15;MQ=29.71;MQ0=28;QD=0.12;SB=77.64 GT:AD:DP:GL:GQ 0/1:182,25:80:-33.47,-27.69,-302.15:57.82 -chr1 2611331 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=170;Dels=0.00;HRun=0;HaplotypeScore=171.01;MQ=28.57;MQ0=19;OQ=169.19;QD=1.00;SB=32.13 GT:AD:DP:GL:GQ 0/1:101,40:47:-34.37,-14.17,-141.57:99 -chr1 2611336 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=160;Dels=0.00;HRun=0;HaplotypeScore=142.89;MQ=27.04;MQ0=20;OQ=617.89;QD=3.86;SB=-201.64 GT:AD:DP:GL:GQ 0/1:32,126:45:-78.63,-13.56,-88.17:99 -chr1 2611359 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=160;Dels=0.00;HRun=2;HaplotypeScore=100.78;MQ=27.44;MQ0=19;OQ=605.72;QD=3.79;SB=-223.68 GT:AD:DP:GL:GQ 0/1:36,124:39:-75.62,-11.76,-86.35:99 -chr1 2611360 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=172;Dels=0.01;HRun=0;HaplotypeScore=100.05;MQ=27.08;MQ0=24;OQ=169.30;QD=0.98;SB=23.10 GT:AD:DP:GL:GQ 0/1:135,36:41:-32.56,-12.35,-112.95:99 -chr1 2611385 . A G 25.43 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=202;Dels=0.00;HRun=0;HaplotypeScore=141.90;MQ=28.13;MQ0=36;QD=0.13;SB=77.25 GT:AD:DP:GL:GQ 0/1:184,18:55:-22.41,-16.58,-186.56:58.25 -chr1 2611395 . C A 10.87 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=190;Dels=0.00;HRun=1;HaplotypeScore=214.46;MQ=28.47;MQ0=34;QD=0.06;SB=44.16 GT:AD:DP:GL:GQ 0/1:160,27:48:-18.79,-14.46,-145.75:43.33 -chr1 2611409 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=176;Dels=0.00;HRun=0;HaplotypeScore=170.63;MQ=30.96;MQ0=28;OQ=246.71;QD=1.40;SB=-63.23 GT:AD:DP:GL:GQ 0/1:66,90:51:-46.30,-18.34,-146.08:99 -chr1 2611417 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=179;Dels=0.00;HRun=1;HaplotypeScore=201.92;MQ=31.46;MQ0=25;OQ=276.60;QD=1.55;SB=-61.04 GT:AD:DP:GL:GQ 0/1:50,88:59:-67.59,-36.64,-159.73:99 -chr1 2611440 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=180;Dels=0.00;HRun=0;HaplotypeScore=297.52;MQ=31.70;MQ0=24;OQ=229.57;QD=1.28;SB=65.18 GT:AD:DP:GL:GQ 0/1:152,22:68:-46.74,-20.49,-196.70:99 -chr1 2611441 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=175;Dels=0.00;HRun=4;HaplotypeScore=281.36;MQ=31.83;MQ0=24;OQ=677.61;QD=3.87;SB=-187.78 GT:AD:DP:GL:GQ 0/1:57,116:70:-92.13,-21.09,-155.28:99 -chr1 2611460 . G C 143.72 DPFilter;HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=209;Dels=0.02;HRun=1;HaplotypeScore=206.53;MQ=28.72;MQ0=29;QD=0.69;SB=95.33 GT:AD:DP:GL:GQ 0/1:169,33:67:-37.89,-20.23,-223.47:99 -chr1 2611462 . G C 346.96 DPFilter;HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=206;Dels=0.00;HRun=0;HaplotypeScore=159.36;MQ=28.99;MQ0=26;QD=1.68;SB=95.35 GT:AD:DP:GL:GQ 0/1:176,30:73:-60.00,-22.02,-249.89:99 -chr1 2611473 . C A 226.87 DPFilter;HARD_TO_VALIDATE;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=197;Dels=0.00;HRun=0;HaplotypeScore=716.79;MQ=27.80;MQ0=23;QD=1.15;SB=98.33 GT:AD:DP:GL:GQ 0/1:167,28:68:-46.46,-20.49,-193.68:99 -chr1 2611481 . A C 47.15 DPFilter;HARD_TO_VALIDATE;Indel;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=213;Dels=0.00;HRun=3;HaplotypeScore=376.14;MQ=26.76;MQ0=25;QD=0.22;SB=4.29 GT:AD:DP:GL:GQ 0/1:158,51:68:-32.16,-24.16,-211.95:79.99 -chr1 2611482 rs28657015 C T 493.48 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=216;Dels=0.03;HRun=0;HaplotypeScore=277.76;MQ=26.81;MQ0=24;QD=2.28;SB=-58.33 GT:AD:DP:GL:GQ 0/1:180,23:71:-73.42,-20.79,-178.37:99 -chr1 2611484 . G A 123.65 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=217;Dels=0.00;HRun=1;HaplotypeScore=257.24;MQ=26.43;MQ0=26;QD=0.57;SB=52.66 GT:AD:DP:GL:GQ 0/1:181,35:66:-35.53,-19.88,-208.25:99 -chr1 2611506 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=243;Dels=0.00;HRun=1;HaplotypeScore=227.39;MQ=23.92;MQ0=38;OQ=83.72;QD=0.34;SB=1.08 GT:AD:DP:GL:GQ 0/1:205,36:67:-31.84,-20.19,-209.30:99 -chr1 2611529 . G C 1369.67 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=185;Dels=0.00;HRun=0;HaplotypeScore=198.19;MQ=24.21;MQ0=25;QD=7.40;SB=-595.38 GT:AD:DP:GL:GQ 0/1:36,136:57:-168.20,-27.95,-90.83:99 -chr1 2611531 . T A 49.73 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=186;Dels=0.00;HRun=1;HaplotypeScore=167.31;MQ=24.09;MQ0=26;QD=0.27;SB=30.12 GT:AD:DP:GL:GQ 0/1:175,9:48:-26.14,-17.88,-160.86:82.57 -chr1 2611537 . A C 10.75 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=187;Dels=0.00;HRun=1;HaplotypeScore=150.76;MQ=24.75;MQ0=25;QD=0.06;SB=49.53 GT:AD:DP:GL:GQ 0/1:160,17:47:-21.51,-17.19,-149.44:43.20 -chr1 2611551 . C A 34.16 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=166;Dels=0.02;HRun=1;HaplotypeScore=423.66;MQ=25.51;MQ0=20;QD=0.21;SB=47.16 GT:AD:DP:GL:GQ 0/1:139,17:37:-21.33,-14.63,-112.07:67 -chr1 2611559 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=150;Dels=0.01;HRun=3;HaplotypeScore=531.42;MQ=25.48;MQ0=17;OQ=388.67;QD=2.59;SB=-7.62 GT:AD:DP:GL:GQ 0/1:47,82:45:-90.78,-48.63,-105.70:99 -chr1 2611586 . G A 21.13 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=158;Dels=0.00;HRun=1;HaplotypeScore=127.50;MQ=28.93;MQ0=18;QD=0.13;SB=47.15 GT:AD:DP:GL:GQ 0/1:123,29:42:-18.05,-12.65,-132.34:53.94 -chr1 2611593 . C A 39.57 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=138;Dels=0.00;HRun=0;HaplotypeScore=189.22;MQ=30.35;MQ0=16;QD=0.29;SB=47.17 GT:AD:DP:GL:GQ 0/1:123,13:39:-18.99,-11.75,-120.10:72.41 -chr1 2611600 . T C 291.60 SnpCluster AC=1;AF=0.50;AN=2;DP=113;Dels=0.00;HRun=2;HaplotypeScore=197.17;MQ=32.27;MQ0=10;QD=2.58;SB=-146.84 GT:AD:DP:GL:GQ 0/1:38,66:38:-47.43,-14.99,-100.79:99 -chr1 2611602 . C G 76.87 SnpCluster AC=1;AF=0.50;AN=2;DP=113;Dels=0.00;HRun=0;HaplotypeScore=173.17;MQ=32.76;MQ0=9;QD=0.68;SB=-63.17 GT:AD:DP:GL:GQ 0/1:81,31:39:-22.73,-11.76,-142.68:99 -chr1 2611613 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=0;HaplotypeScore=122.16;MQ=34.85;MQ0=5;OQ=326.72;QD=4.08;SB=-171.57 GT:AD:DP:GL:GQ 0/1:20,59:33:-49.07,-13.11,-79.40:99 -chr1 2611623 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=1;HaplotypeScore=114.07;MQ=31.99;MQ0=3;OQ=59.10;QD=0.57;SB=53.18 GT:AD:DP:GL:GQ 0/1:44,51:42:-30.56,-21.37,-135.55:91.94 -chr1 2611678 . C A 64.73 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=143;Dels=0.00;HRun=1;HaplotypeScore=80.70;MQ=27.19;MQ0=13;QD=0.45;SB=-53.00 GT:AD:DP:GL:GQ 0/1:121,21:50:-24.83,-15.07,-143.50:97.56 -chr1 2611679 . C T 18.94 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=138;Dels=0.00;HRun=0;HaplotypeScore=77.77;MQ=26.46;MQ0=13;QD=0.14;SB=-28.00 GT:AD:DP:GL:GQ 0/1:130,7:48:-19.64,-14.46,-152.87:51.72 -chr1 2611680 . C A 348.12 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=135;Dels=0.00;HRun=0;HaplotypeScore=72.18;MQ=26.57;MQ0=13;QD=2.58;SB=-130.78 GT:AD:DP:GL:GQ 0/1:71,64:46:-51.95,-13.86,-109.26:99 -chr1 2611697 rs28420770 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.01;HRun=1;HaplotypeScore=63.25;MQ=30.55;MQ0=12;OQ=549.37;QD=5.97;SB=-271.47 GT:AD:DP:GL:GQ 0/1:70,21:28:-66.35,-8.13,-30.04:99 -chr1 2611699 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=39.05;MQ=32.12;MQ0=10;OQ=169.31;QD=2.23;SB=14.08 GT:AD:DP:GL:GQ 0/1:20,50:24:-27.45,-7.24,-73.47:99 -chr1 2611710 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=0;HaplotypeScore=70.70;MQ=31.94;MQ0=10;OQ=120.36;QD=1.56;SB=14.06 GT:AD:DP:GL:GQ 0/1:29,48:25:-22.85,-7.53,-69.69:99 -chr1 2611716 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=0;HaplotypeScore=60.36;MQ=32.04;MQ0=11;OQ=222.09;QD=2.71;SB=-31.85 GT:AD:DP:GL:GQ 0/1:24,55:26:-33.33,-7.83,-79.05:99 -chr1 2611761 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=2;HaplotypeScore=77.17;MQ=34.64;MQ0=9;OQ=73.97;QD=1.01;SB=-32.72 GT:AD:DP:GL:GQ 0/1:30,33:31:-23.41,-12.73,-88.75:99 -chr1 2611777 . A C 23.19 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=20.98;MQ=38.72;MQ0=5;QD=0.42;SB=23.10 GT:AD:DP:GL:GQ 0/1:24,30:28:-14.03,-8.43,-89.75:56.01 -chr1 2611805 . A G 44.82 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=1;HaplotypeScore=14.04;MQ=39.70;MQ0=6;QD=0.79;SB=-36.77 GT:AD:DP:GL:GQ 0/1:29,28:32:-17.41,-9.64,-104.85:77.66 -chr1 2611822 . C T 55.46 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=121;Dels=0.00;HRun=0;HaplotypeScore=122.77;MQ=30.12;MQ0=10;QD=0.46;SB=-42.84 GT:AD:DP:GL:GQ 0/1:92,29:48:-23.31,-14.48,-136.72:88.30 -chr1 2611823 . G A 42.96 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=0;HaplotypeScore=122.08;MQ=30.26;MQ0=10;QD=0.35;SB=5.54 GT:AD:DP:GL:GQ 0/1:91,15:51:-29.64,-22.06,-149.48:75.79 -chr1 2611827 . C G 117.16 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=127;Dels=0.00;HRun=1;HaplotypeScore=109.01;MQ=29.94;MQ0=10;QD=0.92;SB=-46.17 GT:AD:DP:GL:GQ 0/1:97,15:52:-50.99,-35.99,-189.94:99 -chr1 2611857 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=244;Dels=0.00;HRun=1;HaplotypeScore=130.70;MQ=25.34;MQ0=25;OQ=261.41;QD=1.07;SB=-55.24 GT:AD:DP:GL:GQ 0/1:221,22:85:-55.03,-25.61,-242.15:99 -chr1 2611880 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=252;Dels=0.00;HRun=0;HaplotypeScore=242.50;MQ=25.49;MQ0=23;OQ=371.36;QD=1.47;SB=-110.03 GT:AD:DP:GL:GQ 0/1:223,22:91:-74.78,-34.36,-326.09:99 -chr1 2611909 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=181;Dels=0.00;HRun=0;HaplotypeScore=117.77;MQ=27.67;MQ0=16;OQ=1593.34;QD=8.80;SB=-695.72 GT:AD:DP:GL:GQ 0/1:25,155:74:-184.91,-22.29,-95.32:99 -chr1 2611913 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=162;Dels=0.01;HRun=0;HaplotypeScore=121.10;MQ=28.43;MQ0=16;OQ=688.73;QD=4.25;SB=-310.55 GT:AD:DP:GL:GQ 0/1:24,47:69:-160.80,-88.65,-165.59:99 -chr1 2611940 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=139;Dels=0.00;HRun=1;HaplotypeScore=46.12;MQ=30.62;MQ0=15;OQ=640.18;QD=4.61;SB=-181.43 GT:AD:DP:GL:GQ 0/1:50,89:56:-84.19,-16.88,-155.00:99 -chr1 2611948 . A C 23.15 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=138;Dels=0.00;HRun=1;HaplotypeScore=36.39;MQ=28.65;MQ0=12;QD=0.17;SB=47.17 GT:AD:DP:GL:GQ 0/1:116,20:55:-22.17,-16.57,-171.47:55.97 -chr1 2612014 rs28499205 G C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=56.64;MQ=32.76;MQ0=15;OQ=1145.21;QD=14.50;SB=-563.07 GT:AD:DP:GL:GQ 1/1:1,78:27:-118.11,-8.13,-0.01:81.27 -chr1 2612058 rs61765702 C T 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=18.96;MQ=27.13;MQ0=31;OQ=323.91;QD=1.80;SB=-155.18 GT:AD:DP:GL:GQ 0/1:143,37:66:-55.56,-19.88,-179.35:99 -chr1 2612062 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=184;Dels=0.00;HRun=0;HaplotypeScore=39.83;MQ=27.44;MQ0=33;OQ=304.96;QD=1.66;SB=-159.14 GT:AD:DP:GL:GQ 0/1:147,37:67:-53.98,-20.20,-229.14:99 -chr1 2612081 rs61765703 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=136;Dels=0.01;HRun=2;HaplotypeScore=85.10;MQ=27.93;MQ0=25;OQ=1205.35;QD=8.86;SB=-216.92 GT:AD:DP:GL:GQ 0/1:19,114:53:-139.78,-15.97,-53.09:99 -chr1 2612085 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=128;Dels=0.00;HRun=1;HaplotypeScore=63.07;MQ=28.64;MQ0=22;OQ=1108.83;QD=8.66;SB=-225.89 GT:AD:DP:GL:GQ 0/1:16,110:51:-129.53,-15.36,-50.00:99 -chr1 2612107 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=161;Dels=0.00;HRun=1;HaplotypeScore=61.85;MQ=27.81;MQ0=21;OQ=276.90;QD=1.72;SB=-68.50 GT:AD:DP:GL:GQ 0/1:116,39:58:-48.45,-17.48,-165.18:99 -chr1 2612151 rs61765704 A C 24.50 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=129;Dels=0.02;HRun=0;HaplotypeScore=220.24;MQ=28.08;MQ0=15;QD=0.19;SB=6.59 GT:AD:DP:GL:GQ 0/1:44,80:28:-14.16,-8.43,-88.22:57.33 -chr1 2612161 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=149;Dels=0.05;HRun=2;HaplotypeScore=289.32;MQ=26.74;MQ0=14;OQ=154.71;QD=1.04;SB=-60.88 GT:AD:DP:GL:GQ 0/1:35,100:29:-27.20,-8.44,-77.78:99 -chr1 2612175 rs61765705 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=189;Dels=0.00;HRun=1;HaplotypeScore=208.27;MQ=26.09;MQ0=18;OQ=54.71;QD=0.29;SB=-8.07 GT:AD:DP:GL:GQ 0/1:131,51:39:-26.91,-18.15,-132.87:87.54 -chr1 2612187 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=207;Dels=0.00;HRun=1;HaplotypeScore=211.77;MQ=24.98;MQ0=26;OQ=72.89;QD=0.35;SB=45.47 GT:AD:DP:GL:GQ 0/1:143,55:44:-28.75,-18.18,-125.97:99 -chr1 2612211 . C A 45.89 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=208;Dels=0.00;HRun=1;HaplotypeScore=262.96;MQ=25.29;MQ0=30;QD=0.22;SB=-5.55 GT:AD:DP:GL:GQ 0/1:190,13:50:-25.52,-17.65,-153.60:78.73 -chr1 2612261 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=101;Dels=0.00;HRun=1;HaplotypeScore=73.22;MQ=36.24;MQ0=2;OQ=156.42;QD=1.55;SB=-48.52 GT:AD:DP:GL:GQ 0/1:66,32:53:-34.90,-15.97,-147.29:99 -chr1 2612283 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=69;Dels=0.01;HRun=4;HaplotypeScore=43.06;MQ=38.47;MQ0=2;OQ=327.02;QD=4.74;SB=-23.62 GT:AD:DP:GL:GQ 0/1:32,34:36:-46.54,-10.55,-82.71:99 -chr1 2612309 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=19.73;MQ=36.93;MQ0=0;OQ=479.11;QD=9.39;SB=-112.96 GT:AD:DP:GL:GQ 0/1:16,33:31:-63.92,-12.72,-54.61:99 -chr1 2612321 rs58055515 A C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.06;HRun=2;HaplotypeScore=36.08;MQ=38.02;MQ0=0;OQ=654.82;QD=13.64;SB=-115.75 GT:AD:DP:GL:GQ 1/1:1,35:27:-89.55,-24.40,-20.49:39.17 -chr1 2612344 . C G 24.81 LowQual AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=2;HaplotypeScore=34.46;MQ=40.80;MQ0=2;QD=0.48;SB=-19.81 GT:AD:DP:GL:GQ 0/1:23,28:23:-12.71,-6.94,-79.49:57.63 -chr1 2612349 rs56814247 A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=26.66;MQ=40.32;MQ0=2;OQ=741.43;QD=14.54;SB=-345.45 GT:AD:DP:GL:GQ 1/1:6,45:24:-77.75,-7.24,-0.02:72.17 -chr1 2612359 . A C 18.09 LowQual AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=26.16;MQ=43.64;MQ0=3;QD=0.33;SB=-28.97 GT:AD:DP:GL:GQ 0/1:34,20:31:-14.42,-9.34,-99.97:50.86 -chr1 2612360 . A C 30.50 LowQual AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=3;HaplotypeScore=20.17;MQ=44.05;MQ0=2;QD=0.58;SB=-0.42 GT:AD:DP:GL:GQ 0/1:26,25:28:-14.77,-8.43,-87.24:63.33 -chr1 2612401 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=2;HaplotypeScore=42.26;MQ=44.22;MQ0=1;OQ=144.16;QD=2.72;SB=-18.17 GT:AD:DP:GL:GQ 0/1:29,20:34:-31.58,-13.88,-103.42:99 -chr1 2612402 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=41.27;MQ=43.87;MQ0=1;OQ=96.43;QD=1.85;SB=-29.80 GT:AD:DP:GL:GQ 0/1:26,21:30:-21.97,-9.04,-85.20:99 -chr1 2612447 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=39.94;MQ=46.94;MQ0=0;OQ=81.12;QD=1.66;SB=23.03 GT:AD:DP:GL:GQ 0/1:31,17:32:-23.40,-12.01,-88.55:99 -chr1 2612451 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=20.86;MQ=47.66;MQ0=0;OQ=53.68;QD=1.14;SB=26.08 GT:AD:DP:GL:GQ 0/1:30,14:32:-18.30,-9.65,-100.77:86.52 -chr1 2612461 . A C 44.60 LowQual AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=1;HaplotypeScore=34.01;MQ=47.11;MQ0=0;QD=0.86;SB=-23.85 GT:AD:DP:GL:GQ 0/1:42,10:33:-17.68,-9.94,-101.23:77.43 -chr1 2612468 . C G 44.05 LowQual AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=46.41;MQ=45.54;MQ0=0;QD=0.76;SB=-1.30 GT:AD:DP:GL:GQ 0/1:51,7:35:-18.24,-10.55,-129.78:76.89 -chr1 2612500 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=0;HaplotypeScore=111.55;MQ=36.58;MQ0=2;OQ=75.18;QD=0.91;SB=-6.47 GT:AD:DP:GL:GQ 0/1:42,40:29:-19.55,-8.75,-75.63:99 -chr1 2612520 . C T 19.28 LowQual AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=0;HaplotypeScore=133.17;MQ=33.82;MQ0=3;QD=0.19;SB=-16.60 GT:AD:DP:GL:GQ 0/1:87,13:36:-16.06,-10.85,-103.87:52.07 -chr1 2612521 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=102;Dels=0.00;HRun=3;HaplotypeScore=133.17;MQ=33.95;MQ0=3;OQ=122.65;QD=1.20;SB=-13.90 GT:AD:DP:GL:GQ 0/1:59,34:32:-39.02,-23.47,-101.66:99 -chr1 2612546 rs56822453 C G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=145.71;MQ=34.54;MQ0=2;OQ=1448.77;QD=15.58;SB=-452.10 GT:AD:DP:GL:GQ 1/1:7,78:40:-172.07,-31.81,-23.61:81.95 -chr1 2612548 . A G 23.46 LowQual AC=1;AF=0.50;AN=2;DP=96;Dels=0.00;HRun=0;HaplotypeScore=130.25;MQ=34.63;MQ0=2;QD=0.24;SB=-12.60 GT:AD:DP:GL:GQ 0/1:76,19:32:-15.27,-9.65,-107.66:56.27 -chr1 2612572 rs61765712 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=119.88;MQ=29.64;MQ0=12;OQ=136.28;QD=1.57;SB=-70.93 GT:AD:DP:GL:GQ 0/1:30,56:22:-23.54,-6.63,-51.28:99 -chr1 2612576 . C G 19.60 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=1;HaplotypeScore=117.65;MQ=28.19;MQ0=14;QD=0.19;SB=-14.55 GT:AD:DP:GL:GQ 0/1:68,14:25:-20.23,-14.99,-84.25:52.39 -chr1 2612600 . A C 31.76 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=221;Dels=0.00;HRun=4;HaplotypeScore=156.76;MQ=23.41;MQ0=28;QD=0.14;SB=30.15 GT:AD:DP:GL:GQ 0/1:163,45:61:-27.98,-21.52,-181.64:64.60 -chr1 2612627 . A C 39.29 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=243;Dels=0.00;HRun=0;HaplotypeScore=198.32;MQ=23.30;MQ0=41;QD=0.16;SB=-11.41 GT:AD:DP:GL:GQ 0/1:198,41:66:-27.09,-19.88,-204.81:72.12 -chr1 2612682 . A C 10.13 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=3;HaplotypeScore=52.92;MQ=47.05;MQ0=0;QD=0.24;SB=14.06 GT:AD:DP:GL:GQ 0/1:27,14:23:-11.18,-6.93,-67.83:42.53 -chr1 2612696 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=1;HaplotypeScore=17.87;MQ=44.37;MQ0=2;OQ=127.11;QD=2.08;SB=-25.83 GT:AD:DP:GL:GQ 0/1:32,29:31:-25.34,-9.35,-104.60:99 -chr1 2612737 rs61765713 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=31.73;MQ=37.37;MQ0=1;OQ=431.17;QD=5.01;SB=-153.88 GT:AD:DP:GL:GQ 0/1:41,45:46:-60.27,-13.87,-108.65:99 -chr1 2612767 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=1;HaplotypeScore=55.42;MQ=39.20;MQ0=1;OQ=525.18;QD=6.48;SB=-145.82 GT:AD:DP:GL:GQ 0/1:30,49:46:-69.66,-13.86,-97.51:99 -chr1 2612773 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=1;HaplotypeScore=50.07;MQ=38.87;MQ0=1;OQ=424.50;QD=5.31;SB=-154.37 GT:AD:DP:GL:GQ 0/1:53,27:45:-59.30,-13.57,-131.50:99 -chr1 2612799 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=27.45;MQ=41.43;MQ0=1;OQ=164.57;QD=2.70;SB=-62.57 GT:AD:DP:GL:GQ 0/1:27,34:35:-30.28,-10.54,-94.10:99 -chr1 2612844 rs55724072 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=94.30;MQ=38.07;MQ0=8;OQ=665.81;QD=9.12;SB=-251.98 GT:AD:DP:GL:GQ 0/1:45,26:28:-81.79,-11.92,-21.81:98.87 -chr1 2612950 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=215;Dels=0.00;HRun=0;HaplotypeScore=255.70;MQ=27.55;MQ0=15;OQ=78.72;QD=0.37;SB=19.51 GT:AD:DP:GL:GQ 0/1:145,61:50:-33.24,-22.08,-169.61:99 -chr1 2612958 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=205;Dels=0.05;HRun=2;HaplotypeScore=345.72;MQ=28.14;MQ0=11;OQ=268.77;QD=1.31;SB=-87.58 GT:AD:DP:GL:GQ 0/1:82,113:44:-43.44,-13.28,-132.37:99 -chr1 2612962 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=206;Dels=0.01;HRun=1;HaplotypeScore=293.73;MQ=28.22;MQ0=11;OQ=53.07;QD=0.26;SB=-7.29 GT:AD:DP:GL:GQ 0/1:160,36:46:-29.48,-20.89,-140.25:85.91 -chr1 2612982 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=165;Dels=0.00;HRun=0;HaplotypeScore=272.98;MQ=28.95;MQ0=11;OQ=81.29;QD=0.49;SB=23.09 GT:AD:DP:GL:GQ 0/1:43,117:27:-19.56,-8.14,-70.61:99 -chr1 2612988 rs28729890 C G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=157;Dels=0.00;HRun=1;HaplotypeScore=282.08;MQ=29.13;MQ0=10;OQ=1088.24;QD=6.93;SB=-426.67 GT:AD:DP:GL:GQ 1/1:3,146:27:-116.69,-11.76,-4.28:74.86 -chr1 2613013 . G A 31.52 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=131;Dels=0.00;HRun=1;HaplotypeScore=164.33;MQ=32.03;MQ0=7;QD=0.24;SB=26.10 GT:AD:DP:GL:GQ 0/1:117,14:35:-16.98,-10.54,-112.15:64.35 -chr1 2613017 . T C 180.98 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=0;HaplotypeScore=137.52;MQ=33.34;MQ0=7;QD=1.65;SB=26.11 GT:AD:DP:GL:GQ 0/1:27,81:34:-31.63,-10.24,-97.73:99 -chr1 2613018 rs28484972 G C 140.73 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=137.35;MQ=33.34;MQ0=7;QD=1.28;SB=31.01 GT:AD:DP:GL:GQ 0/1:28,44:35:-37.27,-19.91,-118.50:99 -chr1 2613040 rs55713073 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=61.60;MQ=39.34;MQ0=3;OQ=876.14;QD=14.13;SB=-413.05 GT:AD:DP:GL:GQ 0/1:33,24:31:-100.24,-9.35,-30.73:99 -chr1 2613043 . T C 38.29 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=3;HaplotypeScore=55.65;MQ=43.83;MQ0=2;QD=0.78;SB=29.13 GT:AD:DP:GL:GQ 0/1:25,20:28:-15.55,-8.44,-93.33:71.12 -chr1 2613090 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=0;HaplotypeScore=62.85;MQ=32.34;MQ0=20;OQ=113.77;QD=0.92;SB=20.02 GT:AD:DP:GL:GQ 0/1:89,34:35:-25.22,-10.56,-90.70:99 -chr1 2613132 . T C 17.83 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=135.62;MQ=34.15;MQ0=7;QD=0.19;SB=20.93 GT:AD:DP:GL:GQ 0/1:49,17:34:-18.39,-13.34,-109.40:50.59 -chr1 2613155 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=0;HaplotypeScore=54.50;MQ=36.94;MQ0=5;OQ=56.13;QD=0.85;SB=-8.31 GT:AD:DP:GL:GQ 0/1:26,40:25:-16.44,-7.54,-66.14:88.97 -chr1 2613166 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=54;Dels=0.04;HRun=0;HaplotypeScore=39.25;MQ=40.07;MQ0=1;OQ=108.06;QD=2.00;SB=-13.35 GT:AD:DP:GL:GQ 0/1:25,27:25:-21.62,-7.53,-86.20:99 -chr1 2613178 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=39.82;MQ=40.42;MQ0=1;OQ=87.18;QD=1.53;SB=-9.45 GT:AD:DP:GL:GQ 0/1:38,18:28:-20.44,-8.44,-74.35:99 -chr1 2613186 rs28398452 A T 0.15 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=19.52;MQ=46.06;MQ0=0;OQ=818.22;QD=19.96;SB=-414.28 GT:AD:DP:GL:GQ 1/1:0,40:23:-85.41,-6.93,-0.01:69.21 -chr1 2613234 . C G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=40.12;MQ=46.29;MQ0=1;OQ=1357.25;QD=31.56;SB=-584.52 GT:AD:DP:GL:GQ 1/1:1,41:32:-139.32,-9.64,-0.01:96.32 -chr1 2613318 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=84;Dels=0.00;HRun=0;HaplotypeScore=61.23;MQ=29.57;MQ0=14;OQ=124.73;QD=1.48;SB=-14.36 GT:AD:DP:GL:GQ 0/1:67,16:36:-26.61,-10.86,-123.23:99 -chr1 2613323 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=155;Dels=0.00;HRun=0;HaplotypeScore=72.34;MQ=25.61;MQ0=20;OQ=95.66;QD=0.62;SB=33.80 GT:AD:DP:GL:GQ 0/1:133,12:61:-34.86,-22.01,-226.45:99 -chr1 2613370 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=400;Dels=0.00;HRun=0;HaplotypeScore=293.23;MQ=21.10;MQ0=61;OQ=714.05;QD=1.79;SB=-288.95 GT:AD:DP:GL:GQ 0/1:327,73:124:-112.05,-37.36,-344.59:99 -chr1 2613374 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=416;Dels=0.00;HRun=0;HaplotypeScore=328.46;MQ=20.95;MQ0=62;OQ=571.93;QD=1.37;SB=-114.36 GT:AD:DP:GL:GQ 0/1:288,118:123:-97.54,-37.07,-375.44:99 -chr1 2613385 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=437;Dels=0.00;HRun=0;HaplotypeScore=225.97;MQ=20.17;MQ0=68;OQ=628.49;QD=1.44;SB=-284.83 GT:AD:DP:GL:GQ 0/1:363,65:125:-113.05,-46.91,-348.87:99 -chr1 2613405 rs61765715 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=430;Dels=0.00;HRun=0;HaplotypeScore=214.90;MQ=20.78;MQ0=65;OQ=1559.54;QD=3.63;SB=-415.95 GT:AD:DP:GL:GQ 0/1:296,132:120:-195.39,-36.15,-225.88:99 -chr1 2613406 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=428;Dels=0.00;HRun=0;HaplotypeScore=190.35;MQ=20.81;MQ0=64;OQ=96.31;QD=0.23;SB=35.50 GT:AD:DP:GL:GQ 0/1:369,32:113:-77.37,-64.46,-359.74:99 -chr1 2613418 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=358;Dels=0.00;HRun=0;HaplotypeScore=49.55;MQ=21.34;MQ0=50;OQ=281.60;QD=0.79;SB=32.81 GT:AD:DP:GL:GQ 0/1:313,45:98:-60.98,-29.53,-359.08:99 -chr1 2613432 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=200;Dels=0.00;HRun=2;HaplotypeScore=59.86;MQ=23.20;MQ0=28;OQ=127.98;QD=0.64;SB=-77.60 GT:AD:DP:GL:GQ 0/1:175,24:60:-37.72,-21.64,-201.76:99 -chr1 2613443 rs61765716 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=4;HaplotypeScore=21.82;MQ=28.33;MQ0=15;OQ=129.32;QD=1.54;SB=2.14 GT:AD:DP:GL:GQ 0/1:37,47:28:-24.65,-8.44,-74.06:99 -chr1 2613523 rs61765738 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=4;HaplotypeScore=30.76;MQ=30.14;MQ0=9;OQ=85.37;QD=1.61;SB=5.05 GT:AD:DP:GL:GQ 0/1:23,13:17:-22.76,-10.94,-45.61:99 -chr1 2613566 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=71;Dels=0.04;HRun=3;HaplotypeScore=57.78;MQ=26.34;MQ0=13;OQ=54.80;QD=0.77;SB=8.05 GT:AD:DP:GL:GQ 0/1:32,29:23:-15.40,-6.63,-70.44:87.64 -chr1 2613630 . G A 0.07 PASS AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;HRun=1;HaplotypeScore=13.24;MQ=22.14;MQ0=5;OQ=193.82;QD=10.20;SB=-82.32 GT:AD:DP:GL:GQ 1/1:2,17:6:-22.96,-1.81,-0.00:18.06 -chr1 2613635 . G A 0.05 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;HRun=0;HaplotypeScore=13.88;MQ=20.75;MQ0=5;OQ=116.09;QD=7.26;SB=-82.32 GT:AD:DP:GL:GQ 1/1:1,15:4:-15.15,-1.21,-0.00:12.04 -chr1 2613646 . G C 10.99 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.07;HRun=2;HaplotypeScore=14.02;MQ=19.81;MQ0=4;QD=0.79;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,8:1:-4.35,-0.30,-0.00:1.76 -chr1 2613690 . T C 13.23 HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=116.33;MQ=18.38;MQ0=8;QD=0.19;SB=-10.00 GT:AD:DP:GL:GQ 0/1:49,18:4:-5.79,-1.21,-8.34:45.86 -chr1 2613693 . G C 35.94 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=1;HaplotypeScore=149.70;MQ=18.45;MQ0=8;QD=0.45;SB=-10.00 GT:AD:DP:GL:GQ 0/1:76,3:6:-8.69,-1.81,-15.69:68.78 -chr1 2613698 . T G 15.64 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=2;HaplotypeScore=190.59;MQ=18.98;MQ0=9;QD=0.16;SB=-10.00 GT:AD:DP:GL:GQ 0/1:64,7:8:-12.71,-7.87,-20.94:48.35 -chr1 2613700 . G A 196.12 SnpCluster AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=236.20;MQ=18.98;MQ0=9;QD=2.06;SB=-10.00 GT:AD:DP:GL:GQ 0/1:6,83:8:-25.29,-2.41,-3.47:10.61 -chr1 2613710 . G A 290.78 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=155;Dels=0.00;HRun=1;HaplotypeScore=258.37;MQ=18.71;MQ0=19;QD=1.88;SB=-45.65 GT:AD:DP:GL:GQ 0/1:71,77:15:-43.35,-10.99,-17.24:62.53 -chr1 2613712 . A G 19.12 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=162;Dels=0.00;HRun=1;HaplotypeScore=303.47;MQ=18.88;MQ0=19;QD=0.12;SB=-3.98 GT:AD:DP:GL:GQ 0/1:153,6:17:-10.32,-5.13,-49.10:51.90 -chr1 2613717 . C G 26.91 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=186;Dels=0.00;HRun=0;HaplotypeScore=408.47;MQ=18.72;MQ0=23;QD=0.14;SB=-6.99 GT:AD:DP:GL:GQ 0/1:167,10:18:-16.44,-10.47,-59.87:59.74 -chr1 2613725 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=210;Dels=0.00;HRun=0;HaplotypeScore=344.41;MQ=18.80;MQ0=26;OQ=51.69;QD=0.25;SB=-6.99 GT:AD:DP:GL:GQ 0/1:188,19:21:-17.15,-8.70,-57.87:84.53 -chr1 2613732 . A C 62.04 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=212;Dels=0.00;HRun=0;HaplotypeScore=339.87;MQ=19.08;MQ0=26;QD=0.29;SB=-6.99 GT:AD:DP:GL:GQ 0/1:184,21:14:-13.71,-4.22,-32.30:94.88 -chr1 2613741 . C T 167.14 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=207;Dels=0.00;HRun=1;HaplotypeScore=432.19;MQ=19.10;MQ0=22;QD=0.81;SB=-10.00 GT:AD:DP:GL:GQ 0/1:175,24:13:-27.15,-7.15,-25.74:99 -chr1 2613742 . T A 554.18 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DP=203;Dels=0.00;HRun=0;HaplotypeScore=437.29;MQ=19.15;MQ0=21;QD=2.73;SB=-10.00 GT:AD:DP:GL:GQ 1/1:10,159:27:-96.09,-42.87,-37.09:57.79 -chr1 2613744 . C T 234.43 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=208;Dels=0.00;HRun=0;HaplotypeScore=584.09;MQ=19.37;MQ0=21;QD=1.13;SB=-10.00 GT:AD:DP:GL:GQ 0/1:171,26:22:-36.59,-9.87,-49.51:99 -chr1 2613745 . C G 76.87 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=207;Dels=0.00;HRun=0;HaplotypeScore=579.63;MQ=19.38;MQ0=20;QD=0.37;SB=-10.00 GT:AD:DP:GL:GQ 0/1:148,19:15:-15.49,-4.52,-49.92:99 -chr1 2613750 . G A 306.03 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=207;Dels=0.00;HRun=1;HaplotypeScore=658.57;MQ=19.32;MQ0=20;QD=1.48;SB=-7.01 GT:AD:DP:GL:GQ 0/1:99,104:19:-39.62,-5.73,-26.69:99 -chr1 2613754 . C A 11.17 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=223;Dels=0.00;HRun=1;HaplotypeScore=578.78;MQ=19.04;MQ0=24;QD=0.05;SB=-7.00 GT:AD:DP:GL:GQ 0/1:199,19:23:-11.29,-6.93,-65.57:43.66 -chr1 2613765 . C A 112.66 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=230;Dels=0.00;HRun=0;HaplotypeScore=358.32;MQ=18.80;MQ0=30;QD=0.49;SB=-6.99 GT:AD:DP:GL:GQ 0/1:192,30:26:-22.38,-7.83,-66.37:99 -chr1 2613766 . C G 145.08 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=229;Dels=0.00;HRun=0;HaplotypeScore=340.83;MQ=18.60;MQ0=30;QD=0.63;SB=-3.99 GT:AD:DP:GL:GQ 0/1:197,20:34:-28.04,-10.25,-119.31:99 -chr1 2613770 . T C 33.51 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=219;Dels=0.00;HRun=0;HaplotypeScore=286.65;MQ=18.56;MQ0=29;QD=0.15;SB=-3.99 GT:AD:DP:GL:GQ 0/1:176,33:38:-18.09,-11.45,-126.83:66.35 -chr1 2613772 . A G 57.20 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=216;Dels=0.00;HRun=1;HaplotypeScore=261.18;MQ=18.59;MQ0=29;QD=0.26;SB=-0.97 GT:AD:DP:GL:GQ 0/1:199,13:41:-24.12,-15.12,-140.12:90.03 -chr1 2613796 . G C 177.04 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=135;Dels=0.04;HRun=2;HaplotypeScore=330.87;MQ=18.33;MQ0=22;QD=1.31;SB=-45.45 GT:AD:DP:GL:GQ 0/1:71,48:21:-34.21,-13.22,-61.82:99 -chr1 2613800 . G A 69.22 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=111;Dels=0.04;HRun=0;HaplotypeScore=218.43;MQ=17.88;MQ0=19;QD=0.62;SB=-7.00 GT:AD:DP:GL:GQ 0/1:92,15:13:-14.13,-3.92,-31.45:99 -chr1 2613801 . C G 13.55 HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=1;HaplotypeScore=246.51;MQ=18.17;MQ0=17;QD=0.12;SB=-7.00 GT:AD:DP:GL:GQ 0/1:104,4:15:-12.67,-8.05,-55.30:46.19 -chr1 2613803 . C A 151.29 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=1;HaplotypeScore=241.51;MQ=18.66;MQ0=17;QD=1.36;SB=-3.98 GT:AD:DP:GL:GQ 0/1:89,19:17:-27.02,-8.61,-39.19:99 -chr1 2613805 . C T 87.71 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=0;HaplotypeScore=208.83;MQ=18.81;MQ0=15;QD=0.80;SB=-0.98 GT:AD:DP:GL:GQ 0/1:93,15:13:-15.97,-3.92,-32.68:99 -chr1 2613807 . C T 57.07 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=107;Dels=0.00;HRun=0;HaplotypeScore=165.36;MQ=18.87;MQ0=15;QD=0.53;SB=-3.99 GT:AD:DP:GL:GQ 0/1:93,9:11:-12.30,-3.31,-28.01:89.90 -chr1 2613812 . G A 29.24 HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=0;HaplotypeScore=106.13;MQ=18.30;MQ0=14;QD=0.32;SB=-3.99 GT:AD:DP:GL:GQ 0/1:75,16:5:-7.71,-1.51,-10.06:62.07 -chr1 2613813 . T C 74.94 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=91.21;MQ=18.35;MQ0=14;QD=0.88;SB=-6.99 GT:AD:DP:GL:GQ 0/1:16,66:5:-12.29,-1.51,-3.76:22.52 -chr1 2613826 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=84;Dels=0.00;HRun=1;HaplotypeScore=36.04;MQ=20.56;MQ0=13;OQ=192.78;QD=2.30;SB=-28.63 GT:AD:DP:GL:GQ 0/1:21,57:13:-29.99,-7.43,-22.77:99 -chr1 2613831 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=1;HaplotypeScore=23.92;MQ=20.73;MQ0=14;OQ=180.38;QD=2.20;SB=-29.94 GT:AD:DP:GL:GQ 0/1:21,61:13:-25.24,-3.92,-19.14:99 -chr1 2613859 . G T 41.43 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=0;HaplotypeScore=24.92;MQ=20.48;MQ0=13;QD=0.62;SB=-43.38 GT:AD:DP:GL:GQ 0/1:19,47:11:-10.74,-3.32,-20.71:74.26 -chr1 2613869 rs28391329 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=60.53;MQ=21.20;MQ0=15;OQ=293.59;QD=2.94;SB=-0.98 GT:AD:DP:GL:GQ 0/1:82,18:19:-38.38,-5.73,-37.90:99 -chr1 2613889 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=1;HaplotypeScore=72.75;MQ=25.64;MQ0=15;OQ=180.19;QD=1.96;SB=-114.68 GT:AD:DP:GL:GQ 0/1:18,61:28:-47.05,-25.75,-76.38:99 -chr1 2613903 rs11486068 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=48.68;MQ=24.40;MQ0=19;OQ=50.76;QD=0.51;SB=-13.14 GT:AD:DP:GL:GQ 0/1:40,15:30:-30.07,-21.71,-94.96:83.60 -chr1 2613959 rs61765741 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=152;Dels=0.00;HRun=0;HaplotypeScore=30.66;MQ=19.75;MQ0=50;OQ=129.32;QD=0.85;SB=-3.99 GT:AD:DP:GL:GQ 0/1:135,11:45:-36.43,-20.22,-129.55:99 -chr1 2613977 rs61765742 T A 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=20.51;MQ=18.10;MQ0=36;OQ=631.54;QD=6.19;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,87:32:-76.08,-9.64,-40.58:99 -chr1 2614061 . C G 47.32 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=9.70;MQ=18.60;MQ0=18;QD=1.05;SB=-42.45 GT:AD:DP:GL:GQ 0/1:29,16:12:-11.64,-3.62,-36.27:80.16 -chr1 2614087 rs61765744 A C 20.16 HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=3;HaplotypeScore=20.71;MQ=12.14;MQ0=19;QD=0.63;SB=-6.99 GT:AD:DP:GL:GQ 0/1:25,7:6:-7.10,-1.81,-13.92:52.96 -chr1 2614090 . A G 19.51 HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=33;Dels=0.00;HRun=1;HaplotypeScore=20.91;MQ=12.88;MQ0=18;QD=0.59;SB=-6.99 GT:AD:DP:GL:GQ 0/1:21,12:7:-7.34,-2.11,-20.39:52.30 -chr1 2614091 . G C 37.94 HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=1;HaplotypeScore=21.91;MQ=12.37;MQ0=20;QD=1.05;SB=-6.99 GT:AD:DP:GL:GQ 0/1:28,8:7:-9.19,-2.11,-21.58:70.77 -chr1 2614114 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=0;HaplotypeScore=32.88;MQ=18.47;MQ0=36;OQ=121.42;QD=1.52;SB=-36.64 GT:AD:DP:GL:GQ 0/1:36,44:20:-21.46,-6.03,-44.98:99 -chr1 2614128 . T C 13.34 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=117;Dels=0.00;HRun=4;HaplotypeScore=47.41;MQ=18.72;MQ0=40;QD=0.11;SB=-2.29 GT:AD:DP:GL:GQ 0/1:78,34:26:-19.39,-14.79,-91.44:45.97 -chr1 2614209 . G A 41.24 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=1;HaplotypeScore=24.29;MQ=22.02;MQ0=31;QD=0.45;SB=-24.59 GT:AD:DP:GL:GQ 0/1:55,36:29:-16.14,-8.74,-87.91:74.08 -chr1 2614364 rs28730517 A C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=4;HaplotypeScore=28.46;MQ=18.26;MQ0=16;OQ=311.67;QD=6.23;SB=-151.28 GT:AD:DP:GL:GQ 1/1:14,32:12:-37.44,-3.62,-2.80:8.16 -chr1 2614590 rs28497985 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=34.12;MQ=28.69;MQ0=18;OQ=755.20;QD=6.74;SB=-383.20 GT:AD:DP:GL:GQ 0/1:87,25:65:-98.40,-19.59,-181.93:99 -chr1 2614771 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=1;HaplotypeScore=33.03;MQ=8.84;MQ0=54;OQ=63.99;QD=0.94;SB=-10.00 GT:AD:DP:GL:GQ 0/1:54,14:6:-11.49,-1.81,-12.10:96.82 -chr1 2614794 . A C 36.23 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=0;HaplotypeScore=12.63;MQ=15.22;MQ0=54;QD=0.39;SB=8.03 GT:AD:DP:GL:GQ 0/1:56,38:25:-14.44,-7.53,-71.85:69.07 -chr1 2614835 rs61765748 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=146;Dels=0.00;HRun=0;HaplotypeScore=67.43;MQ=23.43;MQ0=43;OQ=134.71;QD=0.92;SB=83.23 GT:AD:DP:GL:GQ 0/1:105,39:61:-35.15,-18.40,-166.15:99 -chr1 2615014 . A G 45.47 PASS AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=21.27;MQ0=3;OQ=106.85;QD=8.90;SB=-34.66 GT:AD:DP:GL:GQ 1/1:0,12:5:-14.25,-1.51,-0.01:15.01 -chr1 2615159 . C A 49.14 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=220;Dels=0.00;HRun=2;HaplotypeScore=142.59;MQ=8.79;MQ0=169;QD=0.22;SB=-7.86 GT:AD:DP:GL:GQ 0/1:185,31:17:-13.32,-5.12,-43.12:81.98 -chr1 2615230 . C G 11.72 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=84;Dels=0.00;HRun=1;HaplotypeScore=6.15;MQ=11.52;MQ0=52;QD=0.14;SB=-26.39 GT:AD:DP:GL:GQ 0/1:72,12:14:-8.65,-4.23,-47.78:44.25 -chr1 2615372 . G A 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;HRun=1;HaplotypeScore=29.65;MQ=17.03;MQ0=60;OQ=691.36;QD=8.13;SB=-292.88 GT:AD:DP:GL:GQ 1/1:59,24:18:-72.73,-5.42,-0.01:54.18 -chr1 2615442 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=155;Dels=0.00;HRun=1;HaplotypeScore=52.99;MQ=12.22;MQ0=96;OQ=368.66;QD=2.38;SB=-99.96 GT:AD:DP:GL:GQ 0/1:30,125:25:-47.68,-7.53,-41.84:99 -chr1 2615466 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=145;Dels=0.00;HRun=0;HaplotypeScore=61.50;MQ=14.17;MQ0=69;OQ=112.35;QD=0.77;SB=-18.60 GT:AD:DP:GL:GQ 0/1:116,29:31:-23.86,-9.34,-81.69:99 -chr1 2615470 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=139;Dels=0.00;HRun=0;HaplotypeScore=63.31;MQ=14.07;MQ0=68;OQ=351.94;QD=2.53;SB=-90.74 GT:AD:DP:GL:GQ 0/1:65,72:34:-48.72,-10.24,-70.14:99 -chr1 2615502 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=79;Dels=0.00;HRun=0;HaplotypeScore=32.33;MQ=16.10;MQ0=38;OQ=288.56;QD=3.65;SB=2.03 GT:AD:DP:GL:GQ 0/1:49,30:24:-39.38,-7.24,-59.32:99 -chr1 2615515 . T G 27.54 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=32.70;MQ=13.65;MQ0=43;QD=0.37;SB=-0.98 GT:AD:DP:GL:GQ 0/1:31,13:15:-18.30,-12.26,-45.52:60.37 -chr1 2615553 . G A 21.44 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=1;HaplotypeScore=33.08;MQ=9.60;MQ0=74;QD=0.23;SB=-3.99 GT:AD:DP:GL:GQ 0/1:70,24:9:-8.14,-2.71,-26.22:54.25 -chr1 2615563 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=0;HaplotypeScore=52.83;MQ=8.09;MQ0=76;OQ=64.78;QD=0.70;SB=-10.00 GT:AD:DP:GL:GQ 0/1:82,10:5:-11.27,-1.51,-6.24:47.31 -chr1 2615689 . T C 30.94 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=1;HaplotypeScore=62.56;MQ=10.13;MQ0=88;QD=0.28;SB=-3.98 GT:AD:DP:GL:GQ 0/1:18,89:9:-9.09,-2.71,-22.98:63.77 -chr1 2615717 rs61765669 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=37.80;MQ=10.99;MQ0=80;OQ=103.09;QD=0.95;SB=-3.99 GT:AD:DP:GL:GQ 0/1:26,83:10:-16.61,-3.01,-17.76:99 -chr1 2615757 . C A 39.74 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=1;HaplotypeScore=30.17;MQ=13.18;MQ0=60;QD=0.43;SB=0.17 GT:AD:DP:GL:GQ 0/1:71,20:17:-15.95,-8.69,-48.17:72.57 -chr1 2615837 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=39.99;MQ=26.86;MQ0=21;OQ=73.19;QD=1.33;SB=-36.22 GT:AD:DP:GL:GQ 0/1:29,26:20:-16.63,-6.03,-56.46:99 -chr1 2615892 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=3;HaplotypeScore=44.02;MQ=30.58;MQ0=2;OQ=63.96;QD=1.12;SB=26.10 GT:AD:DP:GL:GQ 0/1:25,32:26:-17.51,-7.83,-73.92:96.79 -chr1 2615945 rs28619423 T C 0.80 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=8.32;MQ=22.59;MQ0=1;OQ=99.94;QD=5.26;SB=-76.91 GT:AD:DP:GL:GQ 1/1:3,15:4:-13.53,-1.21,-0.00:12.03 -chr1 2615949 rs28373809 G A 10.26 LowQual AC=1;AF=0.50;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=9.32;MQ=19.47;MQ0=1;QD=0.68;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,14:1:-4.27,-0.30,-0.00:1.76 -chr1 2615990 . C G 0.11 PASS AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=8.97;MQ=20.31;MQ0=1;OQ=58.76;QD=6.53;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,9:2:-9.28,-0.60,-0.00:6.02 -chr1 2615997 . G A 36.46 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=1;HaplotypeScore=29.63;MQ=20.63;MQ0=6;QD=1.35;SB=-7.00 GT:AD:DP:GL:GQ 0/1:18,9:5:-8.44,-1.51,-10.16:69.30 -chr1 2616009 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=2;HaplotypeScore=37.74;MQ=29.64;MQ0=6;OQ=112.90;QD=3.53;SB=-3.99 GT:AD:DP:GL:GQ 0/1:15,17:12:-18.19,-3.62,-24.59:99 -chr1 2616012 . A C 43.77 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=2;HaplotypeScore=39.70;MQ=31.56;MQ0=5;QD=1.41;SB=-0.98 GT:AD:DP:GL:GQ 0/1:13,18:11:-10.97,-3.31,-27.78:76.61 -chr1 2616021 . C A 30.19 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=1;HaplotypeScore=71.42;MQ=30.54;MQ0=5;QD=0.70;SB=-0.98 GT:AD:DP:GL:GQ 0/1:37,6:16:-11.12,-4.82,-46.67:63.02 -chr1 2616048 . A C 104.33 Indel AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=256.69;MQ=33.48;MQ0=5;QD=1.53;SB=-0.98 GT:AD:DP:GL:GQ 0/1:26,38:27:-21.85,-8.13,-76.79:99 -chr1 2616053 . A C 36.21 Indel;LowQual AC=1;AF=0.50;AN=2;DP=80;Dels=0.06;HRun=3;HaplotypeScore=159.99;MQ=31.20;MQ0=8;QD=0.45;SB=-3.99 GT:AD:DP:GL:GQ 0/1:43,32:27:-15.04,-8.13,-81.51:69.04 -chr1 2616066 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=129;Dels=0.00;HRun=0;HaplotypeScore=127.16;MQ=28.37;MQ0=17;OQ=116.17;QD=0.90;SB=11.03 GT:AD:DP:GL:GQ 0/1:64,41:40:-43.16,-28.26,-112.08:99 -chr1 2616091 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=152;Dels=0.02;HRun=3;HaplotypeScore=245.31;MQ=26.01;MQ0=24;OQ=74.30;QD=0.49;SB=8.05 GT:AD:DP:GL:GQ 0/1:77,30:40:-32.83,-22.11,-117.91:99 -chr1 2616098 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=149;Dels=0.00;HRun=0;HaplotypeScore=238.65;MQ=25.86;MQ0=23;OQ=203.33;QD=1.36;SB=8.03 GT:AD:DP:GL:GQ 0/1:83,65:39:-35.37,-11.76,-97.26:99 -chr1 2616121 rs28707614 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=109;Dels=0.00;HRun=1;HaplotypeScore=348.16;MQ=25.38;MQ0=21;OQ=754.79;QD=6.92;SB=-132.69 GT:AD:DP:GL:GQ 0/1:14,95:27:-86.90,-8.14,-12.11:39.77 -chr1 2616201 rs28495110 G T 0.10 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=18.82;MQ=45.96;MQ0=6;OQ=1088.68;QD=25.92;SB=-422.58 GT:AD:DP:GL:GQ 1/1:8,34:31:-112.47,-9.34,-0.01:93.25 -chr1 2616235 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=1;HaplotypeScore=22.81;MQ=34.27;MQ0=9;OQ=189.73;QD=2.67;SB=-88.83 GT:AD:DP:GL:GQ 0/1:28,43:31:-31.59,-9.34,-82.55:99 -chr1 2616250 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=198;Dels=0.00;HRun=1;HaplotypeScore=98.35;MQ=24.83;MQ0=26;OQ=53.95;QD=0.27;SB=-52.26 GT:AD:DP:GL:GQ 0/1:175,16:77:-39.01,-30.33,-235.94:86.79 -chr1 2616284 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=316;Dels=0.00;HRun=0;HaplotypeScore=207.75;MQ=22.41;MQ0=34;OQ=472.89;QD=1.50;SB=-261.05 GT:AD:DP:GL:GQ 0/1:280,35:108:-83.11,-32.54,-299.84:99 -chr1 2616291 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=308;Dels=0.00;HRun=0;HaplotypeScore=168.73;MQ=22.17;MQ0=35;OQ=503.17;QD=1.63;SB=-147.25 GT:AD:DP:GL:GQ 0/1:228,77:110:-86.74,-33.14,-306.67:99 -chr1 2616303 rs61765755 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=285;Dels=0.00;HRun=0;HaplotypeScore=48.79;MQ=22.14;MQ0=36;OQ=3893.80;QD=13.66;SB=-1294.80 GT:AD:DP:GL:GQ 0/1:13,240:102:-388.38,-54.71,-62.45:77.36 -chr1 2616333 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=234;Dels=0.00;HRun=0;HaplotypeScore=268.36;MQ=23.38;MQ0=29;OQ=127.30;QD=0.54;SB=-30.73 GT:AD:DP:GL:GQ 0/1:215,16:95:-44.63,-28.62,-299.60:99 -chr1 2616354 rs7544898 A C 1854.66 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=113;Dels=0.00;HRun=1;HaplotypeScore=61.29;MQ=28.89;MQ0=15;QD=16.41;SB=-484.04 GT:AD:DP:GL:GQ 1/1:2,105:53:-193.02,-19.43,-3.97:99 -chr1 2616358 . A G 865.25 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=98;Dels=0.00;HRun=1;HaplotypeScore=46.74;MQ=30.83;MQ0=11;QD=8.83;SB=-6.56 GT:AD:DP:GL:GQ 0/1:29,69:51:-105.17,-15.36,-93.21:99 -chr1 2616363 . G C 842.15 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=97;Dels=0.00;HRun=1;HaplotypeScore=46.38;MQ=31.26;MQ0=12;QD=8.68;SB=-14.79 GT:AD:DP:GL:GQ 0/1:55,42:53:-103.48,-15.98,-115.82:99 -chr1 2616398 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=48.31;MQ=34.63;MQ0=12;OQ=554.46;QD=5.84;SB=10.29 GT:AD:DP:GL:GQ 0/1:66,29:54:-75.00,-16.28,-154.28:99 -chr1 2616612 . G C 20.97 LowQual AC=1;AF=0.50;AN=2;DP=70;Dels=0.01;HRun=0;HaplotypeScore=165.26;MQ=30.37;MQ0=2;QD=0.30;SB=-32.74 GT:AD:DP:GL:GQ 0/1:19,45:24:-19.94,-14.57,-91.68:53.77 -chr1 2616615 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=3;HaplotypeScore=70.16;MQ=28.36;MQ0=2;OQ=89.21;QD=1.29;SB=-14.35 GT:AD:DP:GL:GQ 0/1:26,38:19:-17.94,-5.74,-58.45:99 -chr1 2616647 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=137;Dels=0.00;HRun=0;HaplotypeScore=217.54;MQ=24.00;MQ0=30;OQ=94.92;QD=0.69;SB=35.11 GT:AD:DP:GL:GQ 0/1:84,43:37:-23.93,-11.16,-103.88:99 -chr1 2616654 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=181;Dels=0.00;HRun=1;HaplotypeScore=223.04;MQ=23.83;MQ0=42;OQ=359.87;QD=1.99;SB=35.13 GT:AD:DP:GL:GQ 0/1:140,35:44:-52.54,-13.27,-92.39:99 -chr1 2616670 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=198;Dels=0.00;HRun=0;HaplotypeScore=299.99;MQ=23.86;MQ0=44;OQ=60.86;QD=0.31;SB=35.11 GT:AD:DP:GL:GQ 0/1:127,67:50:-24.46,-15.09,-137.52:93.69 -chr1 2616692 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=167;Dels=0.00;HRun=0;HaplotypeScore=231.37;MQ=26.06;MQ0=26;OQ=91.62;QD=0.55;SB=35.13 GT:AD:DP:GL:GQ 0/1:91,73:56:-32.64,-20.19,-183.88:99 -chr1 2616713 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=1;HaplotypeScore=98.28;MQ=31.06;MQ0=12;OQ=565.06;QD=6.81;SB=-40.25 GT:AD:DP:GL:GQ 0/1:27,50:40:-78.76,-18.97,-82.14:99 -chr1 2616803 . G C 11.63 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=76;Dels=0.01;HRun=0;HaplotypeScore=115.33;MQ=32.59;MQ0=10;QD=0.15;SB=23.09 GT:AD:DP:GL:GQ 0/1:27,42:23:-11.36,-6.95,-79.45:44.16 -chr1 2616826 . T C 18.72 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=39.74;MQ=39.24;MQ0=2;QD=0.38;SB=20.09 GT:AD:DP:GL:GQ 0/1:24,24:22:-11.78,-6.63,-68.52:51.50 -chr1 2616954 rs28486014 C A 1246.57 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=172;Dels=0.00;HRun=0;HaplotypeScore=118.85;MQ=19.01;MQ0=19;QD=7.25;SB=-604.12 GT:AD:DP:GL:GQ 1/1:2,165:36:-131.25,-13.77,-3.01:99 -chr1 2616962 . A G 25.32 DPFilter;HARD_TO_VALIDATE;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=218;Dels=0.00;HRun=0;HaplotypeScore=150.59;MQ=18.32;MQ0=25;QD=0.12;SB=17.48 GT:AD:DP:GL:GQ 0/1:179,39:39:-17.57,-11.75,-132.90:58.14 -chr1 2616963 . C G 90.14 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=222;Dels=0.00;HRun=0;HaplotypeScore=167.60;MQ=18.42;MQ0=25;QD=0.41;SB=8.17 GT:AD:DP:GL:GQ 0/1:182,34:40:-27.79,-15.49,-139.11:99 -chr1 2616976 . C A 13.99 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=267;Dels=0.00;HRun=0;HaplotypeScore=283.46;MQ=18.62;MQ0=35;QD=0.05;SB=55.93 GT:AD:DP:GL:GQ 0/1:236,26:51:-20.03,-15.36,-160.20:46.65 -chr1 2616982 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=280;Dels=0.00;HRun=0;HaplotypeScore=251.51;MQ=19.64;MQ0=37;OQ=486.76;QD=1.74;SB=8.99 GT:AD:DP:GL:GQ 0/1:187,73:54:-71.97,-20.01,-131.66:99 -chr1 2617013 . A C 16.86 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=231;Dels=0.00;HRun=5;HaplotypeScore=227.22;MQ=22.36;MQ0=34;QD=0.07;SB=14.07 GT:AD:DP:GL:GQ 0/1:208,22:59:-25.00,-20.04,-187.42:49.60 -chr1 2617015 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=222;Dels=0.00;HRun=0;HaplotypeScore=200.07;MQ=22.66;MQ0=33;OQ=161.89;QD=0.73;SB=20.10 GT:AD:DP:GL:GQ 0/1:186,27:59:-43.12,-23.65,-203.21:99 -chr1 2617028 rs61765757 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=178;Dels=0.00;HRun=0;HaplotypeScore=111.43;MQ=24.75;MQ0=28;OQ=1236.03;QD=6.94;SB=-23.31 GT:AD:DP:GL:GQ 0/1:36,141:55:-143.45,-16.57,-61.22:99 -chr1 2617033 rs61765759 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=173;Dels=0.00;HRun=0;HaplotypeScore=123.68;MQ=24.76;MQ0=29;OQ=945.67;QD=5.47;SB=-60.88 GT:AD:DP:GL:GQ 0/1:19,129:49:-112.61,-14.76,-62.28:99 -chr1 2617058 rs28585375 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=236;Dels=0.00;HRun=0;HaplotypeScore=112.06;MQ=22.97;MQ0=54;OQ=357.80;QD=1.52;SB=-120.52 GT:AD:DP:GL:GQ 0/1:214,20:72:-60.76,-21.69,-192.59:99 -chr1 2617101 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=207;Dels=0.00;HRun=1;HaplotypeScore=89.01;MQ=23.73;MQ0=48;OQ=1884.44;QD=9.10;SB=-387.68 GT:AD:DP:GL:GQ 0/1:34,172:76:-214.63,-22.90,-42.31:99 -chr1 2617123 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=203;Dels=0.00;HRun=0;HaplotypeScore=48.50;MQ=26.08;MQ0=56;OQ=129.18;QD=0.64;SB=-72.20 GT:AD:DP:GL:GQ 0/1:185,17:80:-40.33,-24.13,-284.57:99 -chr1 2617151 . G C 42.86 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=191;Dels=0.00;HRun=2;HaplotypeScore=97.11;MQ=23.22;MQ0=69;QD=0.22;SB=-10.77 GT:AD:DP:GL:GQ 0/1:167,21:55:-24.18,-16.61,-193.30:75.70 -chr1 2617160 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=181;Dels=0.00;HRun=1;HaplotypeScore=68.35;MQ=20.95;MQ0=76;OQ=103.39;QD=0.57;SB=17.08 GT:AD:DP:GL:GQ 0/1:148,32:50:-28.69,-15.07,-157.59:99 -chr1 2617178 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=141;Dels=0.01;HRun=4;HaplotypeScore=67.98;MQ=19.71;MQ0=69;OQ=224.46;QD=1.59;SB=-23.83 GT:AD:DP:GL:GQ 0/1:56,82:32:-35.39,-9.66,-90.46:99 -chr1 2617216 . T C 14.18 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=2;HaplotypeScore=54.33;MQ=16.92;MQ0=58;QD=0.13;SB=5.04 GT:AD:DP:GL:GQ 0/1:54,55:21:-11.01,-6.33,-70.16:46.85 -chr1 2617218 . C G 13.85 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=108;Dels=0.00;HRun=0;HaplotypeScore=69.57;MQ=15.97;MQ0=58;QD=0.13;SB=5.05 GT:AD:DP:GL:GQ 0/1:87,20:21:-10.98,-6.33,-76.68:46.51 -chr1 2617261 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=1;HaplotypeScore=41.53;MQ=20.71;MQ0=16;OQ=109.26;QD=1.79;SB=-48.91 GT:AD:DP:GL:GQ 0/1:26,35:19:-19.93,-5.73,-46.91:99 -chr1 2617273 rs61466658 T C 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=31.65;MQ=19.33;MQ0=33;OQ=744.68;QD=8.97;SB=-307.99 GT:AD:DP:GL:GQ 1/1:6,73:24:-80.83,-7.23,-2.78:44.58 -chr1 2617320 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=383;Dels=0.00;HRun=2;HaplotypeScore=179.89;MQ=20.12;MQ0=69;OQ=511.87;QD=1.34;SB=-192.93 GT:AD:DP:GL:GQ 0/1:271,102:88:-80.98,-26.51,-240.14:99 -chr1 2617333 . A C 189.16 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=412;Dels=0.00;HRun=1;HaplotypeScore=324.51;MQ=20.25;MQ0=68;QD=0.46;SB=-46.42 GT:AD:DP:GL:GQ 0/1:362,48:102:-52.93,-30.73,-310.85:99 -chr1 2617334 . C T 347.52 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=413;Dels=0.00;HRun=0;HaplotypeScore=315.80;MQ=20.22;MQ0=68;QD=0.84;SB=-93.66 GT:AD:DP:GL:GQ 0/1:367,35:98:-67.59,-29.55,-258.47:99 -chr1 2617338 . C G 222.34 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=432;Dels=0.00;HRun=0;HaplotypeScore=396.78;MQ=20.69;MQ0=66;QD=0.51;SB=19.38 GT:AD:DP:GL:GQ 0/1:381,42:103:-66.44,-40.92,-386.05:99 -chr1 2617341 . G T 154.66 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=435;Dels=0.00;HRun=1;HaplotypeScore=393.28;MQ=20.73;MQ0=66;QD=0.36;SB=-27.31 GT:AD:DP:GL:GQ 0/1:377,44:114:-56.17,-37.42,-341.25:99 -chr1 2617354 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=456;Dels=0.00;HRun=0;HaplotypeScore=284.18;MQ=21.50;MQ0=65;OQ=410.45;QD=0.90;SB=-157.97 GT:AD:DP:GL:GQ 0/1:367,88:128:-86.24,-41.91,-394.71:99 -chr1 2617375 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=397;Dels=0.00;HRun=0;HaplotypeScore=286.33;MQ=23.04;MQ0=37;OQ=238.47;QD=0.60;SB=-127.61 GT:AD:DP:GL:GQ 0/1:316,80:131:-66.59,-39.46,-400.07:99 -chr1 2617377 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=393;Dels=0.00;HRun=0;HaplotypeScore=264.38;MQ=23.09;MQ0=38;OQ=52.53;QD=0.13;SB=34.31 GT:AD:DP:GL:GQ 0/1:349,42:132:-48.29,-39.76,-421.34:85.37 -chr1 2617406 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=231;Dels=0.00;HRun=0;HaplotypeScore=150.38;MQ=24.81;MQ0=30;OQ=1026.09;QD=4.44;SB=-81.56 GT:AD:DP:GL:GQ 0/1:71,150:85:-131.52,-25.63,-230.33:99 -chr1 2617434 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=144;Dels=0.00;HRun=0;HaplotypeScore=111.67;MQ=24.27;MQ0=28;OQ=290.81;QD=2.02;SB=-29.80 GT:AD:DP:GL:GQ 0/1:61,70:56:-59.33,-26.96,-156.98:99 -chr1 2617463 rs56282610 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=58.94;MQ=24.92;MQ0=20;OQ=411.11;QD=4.42;SB=-153.67 GT:AD:DP:GL:GQ 0/1:29,63:36:-55.25,-10.85,-76.21:99 -chr1 2617490 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=97;Dels=0.00;HRun=0;HaplotypeScore=85.26;MQ=28.92;MQ0=14;OQ=93.54;QD=0.96;SB=32.09 GT:AD:DP:GL:GQ 0/1:84,12:39:-24.38,-11.75,-112.74:99 -chr1 2617496 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=0;HaplotypeScore=107.91;MQ=30.31;MQ0=12;OQ=102.53;QD=1.11;SB=32.10 GT:AD:DP:GL:GQ 0/1:79,12:38:-24.98,-11.44,-111.78:99 -chr1 2617505 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=0;HaplotypeScore=81.67;MQ=32.33;MQ0=11;OQ=247.78;QD=2.69;SB=-60.73 GT:AD:DP:GL:GQ 0/1:40,39:40:-40.11,-12.05,-107.49:99 -chr1 2617521 rs56279030 G C 42.50 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=51.30;MQ=31.83;MQ0=12;QD=0.40;SB=0.26 GT:AD:DP:GL:GQ 0/1:94,13:44:-20.79,-13.26,-170.49:75.34 -chr1 2617526 rs28536771 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=105;Dels=0.00;HRun=0;HaplotypeScore=63.55;MQ=32.40;MQ0=9;OQ=160.23;QD=1.53;SB=-3.57 GT:AD:DP:GL:GQ 0/1:45,55:37:-30.46,-11.15,-113.20:99 -chr1 2617584 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=146;Dels=0.00;HRun=0;HaplotypeScore=87.31;MQ=28.18;MQ0=10;OQ=524.04;QD=3.59;SB=-151.92 GT:AD:DP:GL:GQ 0/1:49,97:62:-74.37,-18.69,-162.12:99 -chr1 2617611 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=154;Dels=0.01;HRun=0;HaplotypeScore=176.05;MQ=27.08;MQ0=16;OQ=81.66;QD=0.53;SB=-0.83 GT:AD:DP:GL:GQ 0/1:126,24:59:-29.22,-17.77,-179.32:99 -chr1 2617617 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=150;Dels=0.00;HRun=0;HaplotypeScore=177.05;MQ=27.20;MQ0=14;OQ=126.07;QD=0.84;SB=8.21 GT:AD:DP:GL:GQ 0/1:125,25:58:-33.36,-17.47,-170.99:99 -chr1 2617626 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=140;Dels=0.00;HRun=0;HaplotypeScore=162.52;MQ=28.40;MQ0=11;OQ=508.32;QD=3.63;SB=-161.48 GT:AD:DP:GL:GQ 0/1:40,77:57:-73.89,-19.78,-125.32:99 -chr1 2617630 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=143;Dels=0.00;HRun=1;HaplotypeScore=122.08;MQ=28.20;MQ0=11;OQ=734.14;QD=5.13;SB=-361.31 GT:AD:DP:GL:GQ 0/1:73,47:61:-98.65,-21.95,-111.48:99 -chr1 2617659 rs55801140 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=159;Dels=0.00;HRun=0;HaplotypeScore=125.08;MQ=27.55;MQ0=12;OQ=175.93;QD=1.11;SB=23.11 GT:AD:DP:GL:GQ 0/1:141,12:44:-34.15,-13.27,-148.76:99 -chr1 2617668 rs28535687 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=135;Dels=0.00;HRun=0;HaplotypeScore=255.63;MQ=27.99;MQ0=8;OQ=172.40;QD=1.28;SB=-72.12 GT:AD:DP:GL:GQ 0/1:31,69:32:-40.65,-20.12,-107.26:99 -chr1 2617672 . G T 32.81 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=132;Dels=0.00;HRun=0;HaplotypeScore=245.46;MQ=28.29;MQ0=7;QD=0.25;SB=11.06 GT:AD:DP:GL:GQ 0/1:84,46:25:-14.10,-7.54,-64.41:65.64 -chr1 2617713 . C T 25.50 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=172;Dels=0.00;HRun=0;HaplotypeScore=235.92;MQ=23.71;MQ0=16;QD=0.15;SB=11.61 GT:AD:DP:GL:GQ 0/1:80,75:31:-15.18,-9.35,-88.30:58.32 -chr1 2617737 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=203;Dels=0.00;HRun=1;HaplotypeScore=196.10;MQ=25.34;MQ0=20;OQ=242.18;QD=1.19;SB=-124.57 GT:AD:DP:GL:GQ 0/1:154,44:50:-42.56,-15.06,-131.92:99 -chr1 2617767 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=128;Dels=0.00;HRun=0;HaplotypeScore=115.66;MQ=29.10;MQ0=18;OQ=374.38;QD=2.92;SB=-46.69 GT:AD:DP:GL:GQ 0/1:37,72:41:-53.07,-12.35,-97.04:99 -chr1 2617781 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=130;Dels=0.00;HRun=0;HaplotypeScore=110.28;MQ=28.42;MQ0=22;OQ=65.20;QD=0.50;SB=26.12 GT:AD:DP:GL:GQ 0/1:110,18:43:-22.77,-12.97,-156.99:98.03 -chr1 2617809 rs28698520 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=120;Dels=0.01;HRun=1;HaplotypeScore=154.47;MQ=26.46;MQ0=29;OQ=544.53;QD=4.54;SB=20.07 GT:AD:DP:GL:GQ 0/1:74,45:37:-68.88,-11.15,-59.02:99 -chr1 2617834 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=149;Dels=0.00;HRun=1;HaplotypeScore=142.69;MQ=25.75;MQ0=33;OQ=247.39;QD=1.66;SB=-8.79 GT:AD:DP:GL:GQ 0/1:101,20:44:-48.54,-20.52,-132.57:99 -chr1 2617846 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=163;Dels=0.00;HRun=0;HaplotypeScore=110.83;MQ=27.45;MQ0=31;OQ=574.67;QD=3.53;SB=-169.29 GT:AD:DP:GL:GQ 0/1:34,98:52:-84.16,-23.41,-106.75:99 -chr1 2617859 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=258;Dels=0.00;HRun=0;HaplotypeScore=189.65;MQ=26.24;MQ0=36;OQ=661.11;QD=2.56;SB=-188.93 GT:AD:DP:GL:GQ 0/1:183,74:74:-91.72,-22.32,-216.13:99 -chr1 2617878 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=308;Dels=0.00;HRun=0;HaplotypeScore=214.86;MQ=26.40;MQ0=36;OQ=1364.14;QD=4.43;SB=-695.16 GT:AD:DP:GL:GQ 0/1:245,61:100:-169.82,-30.12,-204.71:99 -chr1 2617913 rs61766463 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=276;Dels=0.00;HRun=0;HaplotypeScore=33.34;MQ=34.26;MQ0=23;OQ=345.85;QD=1.25;SB=54.43 GT:AD:DP:GL:GQ 0/1:130,145:134:-78.24,-40.37,-397.42:99 -chr1 2617929 rs61766464 G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=313;Dels=0.00;HRun=0;HaplotypeScore=209.86;MQ=34.59;MQ0=24;OQ=2475.95;QD=7.91;SB=-469.20 GT:AD:DP:GL:GQ 0/1:207,106:147:-295.16,-44.28,-232.82:99 -chr1 2617945 rs61766465 G A 678.02 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=327;Dels=0.00;HRun=0;HaplotypeScore=293.41;MQ=35.76;MQ0=33;QD=2.07;SB=57.72 GT:AD:DP:GL:GQ 0/1:285,42:156:-118.09,-47.00,-457.61:99 -chr1 2617948 . A T 1515.78 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=339;Dels=0.00;HRun=0;HaplotypeScore=339.78;MQ=35.84;MQ0=34;QD=4.47;SB=-315.59 GT:AD:DP:GL:GQ 0/1:267,71:155:-201.56,-46.69,-377.16:99 -chr1 2617953 rs61766466 C A 621.95 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=348;Dels=0.00;HRun=0;HaplotypeScore=257.70;MQ=36.09;MQ0=43;QD=1.79;SB=55.33 GT:AD:DP:GL:GQ 0/1:287,49:168:-116.08,-50.61,-483.68:99 -chr1 2618063 rs28379532 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=143;Dels=0.02;HRun=0;HaplotypeScore=36.25;MQ=31.70;MQ0=29;OQ=1863.52;QD=13.03;SB=-253.52 GT:AD:DP:GL:GQ 0/1:27,111:85:-215.25,-25.61,-83.05:99 -chr1 2618135 rs28499404 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=183;Dels=0.00;HRun=0;HaplotypeScore=48.32;MQ=27.35;MQ0=42;OQ=347.83;QD=1.90;SB=-174.55 GT:AD:DP:GL:GQ 0/1:162,21:105:-69.72,-31.65,-366.58:99 -chr1 2618152 rs61766467 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=192;Dels=0.00;HRun=1;HaplotypeScore=85.82;MQ=26.36;MQ0=44;OQ=458.63;QD=2.39;SB=-15.83 GT:AD:DP:GL:GQ 0/1:151,41:104:-80.48,-31.33,-290.41:99 -chr1 2618186 rs28655771 A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=193;Dels=0.00;HRun=1;HaplotypeScore=114.84;MQ=21.49;MQ0=56;OQ=2645.92;QD=13.71;SB=-1050.69 GT:AD:DP:GL:GQ 1/1:5,188:77:-268.22,-23.20,-0.04:99 -chr1 2618191 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=203;Dels=0.00;HRun=0;HaplotypeScore=161.00;MQ=22.90;MQ0=57;OQ=50.10;QD=0.25;SB=39.02 GT:AD:DP:GL:GQ 0/1:173,30:86:-34.21,-25.91,-268.48:82.93 -chr1 2618226 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=268;Dels=0.00;HRun=0;HaplotypeScore=192.42;MQ=33.49;MQ0=36;OQ=337.18;QD=1.26;SB=-53.39 GT:AD:DP:GL:GQ 0/1:227,40:152:-82.80,-45.80,-457.42:99 -chr1 2618254 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=296;Dels=0.00;HRun=0;HaplotypeScore=166.54;MQ=37.41;MQ0=24;OQ=808.97;QD=2.73;SB=-397.12 GT:AD:DP:GL:GQ 0/1:225,67:181:-140.83,-56.65,-515.36:99 -chr1 2618301 . C A 998.94 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=292;Dels=0.00;HRun=0;HaplotypeScore=277.61;MQ=43.53;MQ0=9;QD=3.42;SB=-458.03 GT:AD:DP:GL:GQ 0/1:215,74:195:-161.93,-58.75,-524.06:99 -chr1 2618303 . C A 591.91 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=295;Dels=0.00;HRun=0;HaplotypeScore=301.39;MQ=43.31;MQ0=10;QD=2.01;SB=-293.38 GT:AD:DP:GL:GQ 0/1:236,56:205:-124.23,-61.75,-600.14:99 -chr1 2618307 . G A 971.72 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=283;Dels=0.00;HRun=0;HaplotypeScore=193.14;MQ=43.47;MQ0=11;QD=3.43;SB=-273.43 GT:AD:DP:GL:GQ 0/1:228,48:199:-160.42,-59.96,-556.19:99 -chr1 2618320 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=309;Dels=0.00;HRun=0;HaplotypeScore=150.76;MQ=41.04;MQ0=29;OQ=452.34;QD=1.46;SB=-151.56 GT:AD:DP:GL:GQ 0/1:223,31:184:-121.13,-72.62,-509.07:99 -chr1 2618366 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=558;Dels=0.00;HRun=0;HaplotypeScore=219.65;MQ=26.44;MQ0=134;OQ=289.23;QD=0.52;SB=167.70 GT:AD:DP:GL:GQ 0/1:454,69:221:-105.97,-73.77,-728.70:99 -chr1 2618375 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=585;Dels=0.00;HRun=0;HaplotypeScore=337.36;MQ=25.16;MQ0=141;OQ=507.21;QD=0.87;SB=196.74 GT:AD:DP:GL:GQ 0/1:487,75:227:-128.47,-74.47,-700.80:99 -chr1 2618378 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=594;Dels=0.00;HRun=0;HaplotypeScore=307.01;MQ=24.92;MQ0=142;OQ=386.51;QD=0.65;SB=-74.59 GT:AD:DP:GL:GQ 0/1:524,66:225:-115.59,-73.65,-670.89:99 -chr1 2618414 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=573;Dels=0.00;HRun=1;HaplotypeScore=206.56;MQ=24.36;MQ0=140;OQ=719.44;QD=1.26;SB=-72.20 GT:AD:DP:GL:GQ 0/1:439,119:210:-138.50,-63.27,-592.09:99 -chr1 2618418 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=531;Dels=0.00;HRun=0;HaplotypeScore=181.25;MQ=24.54;MQ0=131;OQ=939.27;QD=1.77;SB=-76.38 GT:AD:DP:GL:GQ 0/1:427,103:204:-158.68,-61.47,-574.55:99 -chr1 2618432 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=412;Dels=0.00;HRun=0;HaplotypeScore=70.50;MQ=25.62;MQ0=105;OQ=877.24;QD=2.13;SB=-428.33 GT:AD:DP:GL:GQ 0/1:368,44:152:-136.86,-45.86,-364.87:99 -chr1 2618444 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=352;Dels=0.00;HRun=1;HaplotypeScore=46.24;MQ=26.18;MQ0=89;OQ=1301.34;QD=3.70;SB=170.58 GT:AD:DP:GL:GQ 0/1:167,181:143:-176.57,-43.15,-394.32:99 -chr1 2618459 rs61766471 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=309;Dels=0.00;HRun=0;HaplotypeScore=122.77;MQ=27.15;MQ0=60;OQ=430.68;QD=1.39;SB=-167.89 GT:AD:DP:GL:GQ 0/1:283,25:135:-87.04,-40.69,-380.50:99 -chr1 2618482 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=224;Dels=0.00;HRun=0;HaplotypeScore=91.95;MQ=32.62;MQ0=31;OQ=752.10;QD=3.36;SB=-248.53 GT:AD:DP:GL:GQ 0/1:115,107:101:-108.92,-30.43,-254.35:99 -chr1 2618501 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=234;Dels=0.01;HRun=4;HaplotypeScore=341.35;MQ=30.82;MQ0=33;OQ=155.62;QD=0.67;SB=92.01 GT:AD:DP:GL:GQ 0/1:155,66:98:-53.97,-35.12,-329.58:99 -chr1 2618530 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=231;Dels=0.00;HRun=0;HaplotypeScore=168.93;MQ=32.32;MQ0=29;OQ=236.35;QD=1.02;SB=-122.19 GT:AD:DP:GL:GQ 0/1:211,19:107:-59.16,-32.24,-318.05:99 -chr1 2618557 rs28411025 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=156;Dels=0.00;HRun=0;HaplotypeScore=133.44;MQ=39.19;MQ0=9;OQ=2883.82;QD=18.49;SB=-1383.19 GT:AD:DP:GL:GQ 0/1:27,128:92:-319.41,-27.74,-64.72:99 -chr1 2618577 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=228;Dels=0.01;HRun=1;HaplotypeScore=243.04;MQ=34.35;MQ0=14;OQ=206.46;QD=0.91;SB=-125.59 GT:AD:DP:GL:GQ 0/1:119,105:92:-51.66,-27.73,-260.87:99 -chr1 2618590 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=341;Dels=0.00;HRun=0;HaplotypeScore=269.37;MQ=32.40;MQ0=23;OQ=694.60;QD=2.04;SB=-10.03 GT:AD:DP:GL:GQ 0/1:206,129:134:-115.74,-43.00,-326.10:99 -chr1 2618603 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=385;Dels=0.00;HRun=0;HaplotypeScore=742.67;MQ=32.24;MQ0=20;OQ=374.09;QD=0.97;SB=-84.54 GT:AD:DP:GL:GQ 0/1:213,140:157:-94.37,-53.68,-577.68:99 -chr1 2618613 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=414;Dels=0.00;HRun=1;HaplotypeScore=803.50;MQ=31.66;MQ0=23;OQ=626.38;QD=1.51;SB=181.82 GT:AD:DP:GL:GQ 0/1:349,58:175:-118.68,-52.76,-621.84:99 -chr1 2618617 . A C 34.85 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=417;Dels=0.00;HRun=1;HaplotypeScore=645.23;MQ=31.22;MQ0=23;QD=0.08;SB=-15.32 GT:AD:DP:GL:GQ 0/1:232,176:163:-62.01,-55.24,-512.02:67.68 -chr1 2618648 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=485;Dels=0.00;HRun=0;HaplotypeScore=582.18;MQ=29.51;MQ0=32;OQ=1313.91;QD=2.71;SB=163.03 GT:AD:DP:GL:GQ 0/1:367,113:208:-197.35,-62.68,-695.38:99 -chr1 2618651 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=487;Dels=0.00;HRun=0;HaplotypeScore=686.95;MQ=29.46;MQ0=33;OQ=108.10;QD=0.22;SB=256.13 GT:AD:DP:GL:GQ 0/1:431,46:211:-84.08,-69.98,-671.09:99 -chr1 2618685 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=500;Dels=0.00;HRun=1;HaplotypeScore=291.67;MQ=27.86;MQ0=33;OQ=4318.30;QD=8.64;SB=-761.47 GT:AD:DP:GL:GQ 0/1:182,284:216:-430.83,-67.58,-458.35:99 -chr1 2618707 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=462;Dels=0.01;HRun=4;HaplotypeScore=721.39;MQ=29.06;MQ0=34;OQ=2615.02;QD=5.66;SB=-699.35 GT:AD:DP:GL:GQ 0/1:165,282:202:-327.27,-62.48,-383.70:99 -chr1 2618711 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=464;Dels=0.00;HRun=0;HaplotypeScore=458.70;MQ=28.79;MQ0=35;OQ=1658.43;QD=3.57;SB=-180.55 GT:AD:DP:GL:GQ 0/1:156,178:185:-246.74,-77.62,-433.93:99 -chr1 2618743 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=565;Dels=0.00;HRun=1;HaplotypeScore=594.08;MQ=28.52;MQ0=39;OQ=195.57;QD=0.35;SB=27.58 GT:AD:DP:GL:GQ 0/1:503,58:268:-103.62,-80.78,-771.76:99 -chr1 2618776 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=541;Dels=0.00;HRun=0;HaplotypeScore=502.52;MQ=30.93;MQ0=35;OQ=5244.83;QD=9.69;SB=-856.66 GT:AD:DP:GL:GQ 0/1:182,353:279:-523.48,-84.06,-514.94:99 -chr1 2618784 . C T 23.85 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=542;Dels=0.00;HRun=0;HaplotypeScore=612.02;MQ=31.33;MQ0=33;QD=0.04;SB=67.53 GT:AD:DP:GL:GQ 0/1:386,152:218:-71.34,-65.68,-703.92:56.67 -chr1 2618799 rs61766473 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=520;Dels=0.00;HRun=1;HaplotypeScore=456.03;MQ=31.14;MQ0=35;OQ=4809.01;QD=9.25;SB=-828.34 GT:AD:DP:GL:GQ 0/1:169,328:274:-479.90,-94.56,-523.76:99 -chr1 2618813 rs28570043 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=586;Dels=0.00;HRun=0;HaplotypeScore=299.20;MQ=30.92;MQ0=47;OQ=1856.68;QD=3.17;SB=-717.31 GT:AD:DP:GL:GQ 0/1:501,75:250:-270.75,-81.80,-777.18:99 -chr1 2618823 rs61766474 A T 4860.03 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=562;Dels=0.00;HRun=0;HaplotypeScore=709.32;MQ=30.48;MQ0=44;QD=8.65;SB=-560.15 GT:AD:DP:GL:GQ 0/1:287,273:277:-485.00,-83.44,-550.46:99 -chr1 2618832 . C G 1479.75 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=512;Dels=0.00;HRun=2;HaplotypeScore=411.64;MQ=30.81;MQ0=42;QD=2.89;SB=-17.36 GT:AD:DP:GL:GQ 0/1:367,94:241:-231.26,-80.00,-778.36:99 -chr1 2618833 . G C 375.40 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=513;Dels=0.00;HRun=1;HaplotypeScore=505.52;MQ=30.67;MQ0=42;QD=0.73;SB=152.53 GT:AD:DP:GL:GQ 0/1:466,47:236:-112.05,-71.23,-847.97:99 -chr1 2618853 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=470;Dels=0.00;HRun=0;HaplotypeScore=742.82;MQ=31.02;MQ0=40;OQ=917.98;QD=1.95;SB=-4.91 GT:AD:DP:GL:GQ 0/1:336,89:211:-236.75,-141.67,-586.15:99 -chr1 2618854 rs61766475 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=465;Dels=0.00;HRun=1;HaplotypeScore=675.66;MQ=31.14;MQ0=39;OQ=3030.86;QD=6.52;SB=-170.15 GT:AD:DP:GL:GQ 0/1:129,210:216:-470.96,-164.59,-497.24:99 -chr1 2618865 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=505;Dels=0.00;HRun=0;HaplotypeScore=338.61;MQ=30.47;MQ0=44;OQ=342.56;QD=0.68;SB=-14.42 GT:AD:DP:GL:GQ 0/1:439,53:231:-117.83,-80.29,-726.19:99 -chr1 2618904 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=499;Dels=0.00;HRun=4;HaplotypeScore=608.12;MQ=29.15;MQ0=44;OQ=1769.15;QD=3.55;SB=89.28 GT:AD:DP:GL:GQ 0/1:280,197:227:-252.16,-71.97,-553.68:99 -chr1 2618905 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=514;Dels=0.00;HRun=0;HaplotypeScore=596.36;MQ=29.03;MQ0=46;OQ=337.81;QD=0.66;SB=-30.28 GT:AD:DP:GL:GQ 0/1:424,43:227:-138.22,-101.16,-705.27:99 -chr1 2618928 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=624;Dels=0.00;HRun=2;HaplotypeScore=323.04;MQ=29.42;MQ0=49;OQ=696.10;QD=1.12;SB=42.74 GT:AD:DP:GL:GQ 0/1:499,120:322:-169.90,-97.01,-976.27:99 -chr1 2618942 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=632;Dels=0.00;HRun=0;HaplotypeScore=427.92;MQ=29.57;MQ0=51;OQ=1430.20;QD=2.26;SB=-6.35 GT:AD:DP:GL:GQ 0/1:441,177:340:-255.05,-108.75,-1027.84:99 -chr1 2618944 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=660;Dels=0.01;HRun=1;HaplotypeScore=381.00;MQ=29.09;MQ0=58;OQ=94.18;QD=0.14;SB=-52.32 GT:AD:DP:GL:GQ 0/1:544,51:336:-209.60,-196.90,-1072.15:99 -chr1 2619010 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=979;Dels=0.00;HRun=0;HaplotypeScore=447.29;MQ=26.60;MQ0=70;OQ=796.25;QD=0.81;SB=-92.06 GT:AD:DP:GL:GQ 0/1:864,98:425:-220.34,-137.43,-1275.90:99 -chr1 2619053 rs28733941 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=909;Dels=0.00;HRun=0;HaplotypeScore=595.79;MQ=27.09;MQ0=60;OQ=13631.67;QD=15.00;SB=-2975.80 GT:AD:DP:GL:GQ 0/1:104,553:419:-1362.17,-600.80,-836.54:99 -chr1 2619065 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1083;Dels=0.00;HRun=0;HaplotypeScore=883.09;MQ=27.27;MQ0=55;OQ=741.35;QD=0.68;SB=-174.53 GT:AD:DP:GL:GQ 0/1:939,125:552:-281.40,-203.98,-1716.07:99 -chr1 2619068 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1124;Dels=0.00;HRun=1;HaplotypeScore=958.29;MQ=27.28;MQ0=55;OQ=693.79;QD=0.62;SB=-203.14 GT:AD:DP:GL:GQ 0/1:985,132:593:-257.34,-184.67,-1827.88:99 -chr1 2619088 rs28368434 T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=1328;Dels=0.00;HRun=2;HaplotypeScore=334.46;MQ=28.00;MQ0=46;OQ=7035.59;QD=5.30;SB=-1628.81 GT:AD:DP:GL:GQ 0/1:1024,295:793:-702.56,-254.86,-2119.90:99 -chr1 2619105 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=1330;Dels=0.00;HRun=0;HaplotypeScore=932.09;MQ=28.23;MQ0=29;OQ=2367.59;QD=1.78;SB=-1159.72 GT:AD:DP:GL:GQ 0/1:991,151:799:-779.65,-539.60,-2921.50:99 -chr1 2619148 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=990;Dels=0.00;HRun=0;HaplotypeScore=340.48;MQ=27.70;MQ0=55;OQ=2332.09;QD=2.36;SB=-739.43 GT:AD:DP:GL:GQ 0/1:796,178:558:-439.22,-202.73,-1989.78:99 -chr1 2619186 . A C 371.93 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=419;Dels=0.00;HRun=2;HaplotypeScore=464.28;MQ=28.43;MQ0=32;QD=0.89;SB=-209.63 GT:AD:DP:GL:GQ 0/1:320,97:190:-97.71,-57.24,-585.62:99 -chr1 2619187 . A C 430.91 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=400;Dels=0.00;HRun=1;HaplotypeScore=324.16;MQ=28.26;MQ0=30;QD=1.08;SB=-112.57 GT:AD:DP:GL:GQ 0/1:310,88:169:-97.29,-50.91,-502.75:99 -chr1 2619196 rs61766477 C T 639.34 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=339;Dels=0.00;HRun=0;HaplotypeScore=406.21;MQ=29.84;MQ0=24;QD=1.89;SB=-240.09 GT:AD:DP:GL:GQ 0/1:283,37:141:-134.06,-66.84,-411.36:99 -chr1 2619205 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=257;Dels=0.00;HRun=0;HaplotypeScore=259.69;MQ=32.70;MQ0=16;OQ=1928.35;QD=7.50;SB=-426.10 GT:AD:DP:GL:GQ 0/1:80,173:106:-228.05,-31.94,-159.03:99 -chr1 2619218 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=235;Dels=0.00;HRun=1;HaplotypeScore=278.38;MQ=35.10;MQ0=10;OQ=372.83;QD=1.59;SB=-167.14 GT:AD:DP:GL:GQ 0/1:174,58:82:-65.27,-24.71,-216.22:99 -chr1 2619230 . G A 206.96 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=238;Dels=0.00;HRun=1;HaplotypeScore=422.57;MQ=34.96;MQ0=8;QD=0.87;SB=86.30 GT:AD:DP:GL:GQ 0/1:192,38:100:-59.43,-35.45,-312.61:99 -chr1 2619232 . T C 831.94 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=232;Dels=0.00;HRun=0;HaplotypeScore=355.75;MQ=35.18;MQ0=8;QD=3.59;SB=-351.57 GT:AD:DP:GL:GQ 0/1:163,64:87:-112.72,-26.24,-194.80:99 -chr1 2619238 . G T 230.19 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=214;Dels=0.00;HRun=0;HaplotypeScore=374.27;MQ=36.67;MQ0=6;QD=1.08;SB=104.29 GT:AD:DP:GL:GQ 0/1:105,106:92:-54.02,-27.71,-267.56:99 -chr1 2619244 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=201;Dels=0.00;HRun=0;HaplotypeScore=269.42;MQ=37.21;MQ0=7;OQ=1921.19;QD=9.56;SB=-479.90 GT:AD:DP:GL:GQ 0/1:57,142:93:-223.42,-28.02,-104.14:99 -chr1 2619306 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=116;Dels=0.00;HRun=2;HaplotypeScore=23.50;MQ=42.95;MQ0=2;OQ=983.37;QD=8.48;SB=-151.45 GT:AD:DP:GL:GQ 0/1:49,66:80:-128.94,-27.32,-178.83:99 -chr1 2619313 . T G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=97;Dels=0.00;HRun=0;HaplotypeScore=14.58;MQ=45.37;MQ0=2;OQ=717.70;QD=7.40;SB=-61.81 GT:AD:DP:GL:GQ 0/1:47,50:71:-96.45,-21.40,-150.45:99 -chr1 2619324 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=0;HaplotypeScore=29.83;MQ=44.91;MQ0=2;OQ=606.68;QD=6.74;SB=-59.89 GT:AD:DP:GL:GQ 0/1:45,45:58:-81.45,-17.50,-117.39:99 -chr1 2619346 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=198;Dels=0.01;HRun=2;HaplotypeScore=304.95;MQ=34.96;MQ0=2;OQ=1893.09;QD=9.56;SB=62.22 GT:AD:DP:GL:GQ 0/1:48,144:92:-224.02,-31.43,-163.64:99 -chr1 2619351 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=249;Dels=0.00;HRun=1;HaplotypeScore=417.56;MQ=32.10;MQ0=4;OQ=1347.04;QD=5.41;SB=71.23 GT:AD:DP:GL:GQ 0/1:80,143:111:-171.44,-33.46,-209.78:99 -chr1 2619360 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=388;Dels=0.00;HRun=1;HaplotypeScore=438.87;MQ=28.93;MQ0=6;OQ=112.12;QD=0.29;SB=98.35 GT:AD:DP:GL:GQ 0/1:301,77:156:-68.00,-53.51,-526.40:99 -chr1 2619395 rs61766478 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=748;Dels=0.00;HRun=0;HaplotypeScore=964.64;MQ=26.94;MQ0=26;OQ=5287.26;QD=7.07;SB=128.59 GT:AD:DP:GL:GQ 0/1:216,518:288:-527.73,-89.49,-471.13:99 -chr1 2619416 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=775;Dels=0.00;HRun=0;HaplotypeScore=727.49;MQ=27.55;MQ0=26;OQ=6889.43;QD=8.89;SB=178.09 GT:AD:DP:GL:GQ 0/1:249,511:342:-687.94,-103.01,-497.11:99 -chr1 2619432 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=738;Dels=0.01;HRun=0;HaplotypeScore=785.98;MQ=28.56;MQ0=15;OQ=287.49;QD=0.39;SB=162.31 GT:AD:DP:GL:GQ 0/1:586,116:299:-161.89,-129.86,-1001.87:99 -chr1 2619446 rs61766479 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=555;Dels=0.00;HRun=1;HaplotypeScore=580.47;MQ=30.08;MQ0=12;OQ=4833.38;QD=8.71;SB=183.30 GT:AD:DP:GL:GQ 0/1:214,317:283:-482.34,-118.04,-540.99:99 -chr1 2619465 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=306;Dels=0.02;HRun=1;HaplotypeScore=404.44;MQ=32.23;MQ0=6;OQ=129.50;QD=0.42;SB=102.00 GT:AD:DP:GL:GQ 0/1:203,74:120:-64.50,-48.27,-416.86:99 -chr1 2619467 rs61766480 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=303;Dels=0.02;HRun=1;HaplotypeScore=363.13;MQ=31.91;MQ0=6;OQ=4502.12;QD=14.86;SB=-1253.39 GT:AD:DP:GL:GQ 0/1:40,252:153:-449.21,-45.80,-111.82:99 -chr1 2619477 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=279;Dels=0.00;HRun=0;HaplotypeScore=335.87;MQ=32.02;MQ0=7;OQ=542.66;QD=1.95;SB=122.33 GT:AD:DP:GL:GQ 0/1:161,107:129:-96.42,-38.87,-351.57:99 -chr1 2619489 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=268;Dels=0.00;HRun=1;HaplotypeScore=215.67;MQ=32.52;MQ0=8;OQ=1128.11;QD=4.21;SB=95.32 GT:AD:DP:GL:GQ 0/1:114,145:131:-166.02,-49.92,-331.55:99 -chr1 2619505 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=271;Dels=0.00;HRun=0;HaplotypeScore=305.81;MQ=31.15;MQ0=10;OQ=135.21;QD=0.50;SB=68.22 GT:AD:DP:GL:GQ 0/1:237,31:129:-55.67,-38.86,-389.56:99 -chr1 2619511 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=262;Dels=0.00;HRun=0;HaplotypeScore=356.76;MQ=30.03;MQ0=11;OQ=250.01;QD=0.95;SB=47.18 GT:AD:DP:GL:GQ 0/1:212,49:118:-63.84,-35.55,-351.09:99 -chr1 2619524 rs34081960 A G 343.80 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=216;Dels=0.00;HRun=1;HaplotypeScore=217.57;MQ=30.42;MQ0=7;QD=1.59;SB=47.18 GT:AD:DP:GL:GQ 0/1:179,33:102:-68.39,-30.73,-325.69:99 -chr1 2619526 . C A 23.86 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=205;Dels=0.00;HRun=1;HaplotypeScore=236.96;MQ=30.18;MQ0=8;QD=0.12;SB=44.17 GT:AD:DP:GL:GQ 0/1:190,11:95:-34.28,-28.61,-300.58:56.68 -chr1 2619527 . A C 538.74 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=197;Dels=0.00;HRun=1;HaplotypeScore=224.55;MQ=30.05;MQ0=8;QD=2.73;SB=-87.11 GT:AD:DP:GL:GQ 0/1:122,73:87:-83.37,-26.21,-226.60:99 -chr1 2619530 . T G 866.27 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=179;Dels=0.00;HRun=1;HaplotypeScore=215.21;MQ=31.06;MQ0=6;QD=4.84;SB=12.12 GT:AD:DP:GL:GQ 0/1:87,85:86:-126.63,-36.72,-179.70:99 -chr1 2619534 . A G 264.68 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=172;Dels=0.00;HRun=1;HaplotypeScore=280.66;MQ=30.98;MQ0=7;QD=1.54;SB=41.16 GT:AD:DP:GL:GQ 0/1:139,33:74:-52.04,-22.29,-233.98:99 -chr1 2619544 . C T 108.85 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=155;Dels=0.06;HRun=0;HaplotypeScore=267.97;MQ=31.40;MQ0=5;QD=0.70;SB=38.12 GT:AD:DP:GL:GQ 0/1:124,16:57:-34.75,-20.58,-177.62:99 -chr1 2619546 . C G 37.35 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=150;Dels=0.00;HRun=0;HaplotypeScore=251.96;MQ=31.91;MQ0=5;QD=0.25;SB=38.15 GT:AD:DP:GL:GQ 0/1:138,7:61:-25.40,-18.38,-245.36:70.19 -chr1 2619553 . A G 821.41 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=0;HaplotypeScore=113.41;MQ=33.54;MQ0=5;QD=6.96;SB=23.10 GT:AD:DP:GL:GQ 0/1:33,83:56:-102.29,-16.87,-105.73:99 -chr1 2619570 rs12757527 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=61.91;MQ=39.68;MQ0=1;OQ=223.25;QD=2.51;SB=41.15 GT:AD:DP:GL:GQ 0/1:39,49:45:-39.17,-13.56,-132.69:99 -chr1 2619576 rs11516512 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=85.98;MQ=40.41;MQ0=1;OQ=1215.90;QD=15.59;SB=-537.94 GT:AD:DP:GL:GQ 0/1:9,69:47:-139.03,-14.16,-23.39:92.31 -chr1 2619644 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=0;HaplotypeScore=167.24;MQ=38.77;MQ0=11;OQ=65.21;QD=0.53;SB=59.09 GT:AD:DP:GL:GQ 0/1:83,36:47:-23.99,-14.18,-125.75:98.05 -chr1 2619667 rs12757684 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=110;Dels=0.02;HRun=3;HaplotypeScore=150.20;MQ=38.48;MQ0=2;OQ=87.98;QD=0.80;SB=-4.94 GT:AD:DP:GL:GQ 0/1:62,46:39:-23.84,-11.75,-110.18:99 -chr1 2619672 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=2;HaplotypeScore=165.55;MQ=38.18;MQ0=2;OQ=67.69;QD=0.61;SB=56.21 GT:AD:DP:GL:GQ 0/1:58,23:45:-37.64,-27.58,-156.78:99 -chr1 2619717 rs35537872 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=158.55;MQ=37.91;MQ0=1;OQ=82.21;QD=0.81;SB=12.47 GT:AD:DP:GL:GQ 0/1:41,55:41:-23.87,-12.36,-127.50:99 -chr1 2619725 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=0;HaplotypeScore=160.68;MQ=38.53;MQ0=0;OQ=110.57;QD=1.00;SB=59.22 GT:AD:DP:GL:GQ 0/1:96,15:49:-29.10,-14.76,-154.28:99 -chr1 2619755 rs35198281 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=135.67;MQ=40.63;MQ0=1;OQ=77.36;QD=0.78;SB=-26.15 GT:AD:DP:GL:GQ 0/1:44,49:41:-23.37,-12.36,-121.95:99 -chr1 2619802 . G A 11.69 LowQual AC=1;AF=0.50;AN=2;DP=99;Dels=0.00;HRun=1;HaplotypeScore=127.16;MQ=33.63;MQ0=4;QD=0.12;SB=-22.48 GT:AD:DP:GL:GQ 0/1:79,20:38:-15.87,-11.45,-120.55:44.22 -chr1 2619811 rs11516513 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=94.34;MQ=31.96;MQ0=5;OQ=1057.97;QD=11.02;SB=-282.04 GT:AD:DP:GL:GQ 0/1:29,63:37:-120.23,-11.15,-15.87:47.21 -chr1 2619844 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=0;HaplotypeScore=163.21;MQ=35.54;MQ0=9;OQ=150.26;QD=1.60;SB=-85.59 GT:AD:DP:GL:GQ 0/1:35,58:32:-27.96,-9.65,-83.83:99 -chr1 2619873 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=139;Dels=0.00;HRun=1;HaplotypeScore=84.94;MQ=33.03;MQ0=22;OQ=528.32;QD=3.80;SB=-259.93 GT:AD:DP:GL:GQ 0/1:45,94:55:-72.69,-16.57,-137.30:99 -chr1 2619885 rs4648686 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=143;Dels=0.00;HRun=0;HaplotypeScore=76.46;MQ=34.20;MQ0=29;OQ=72.77;QD=0.51;SB=-32.15 GT:AD:DP:GL:GQ 0/1:107,35:58:-28.03,-17.47,-178.69:99 -chr1 2619907 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=129;Dels=0.02;HRun=0;HaplotypeScore=75.23;MQ=35.05;MQ0=37;OQ=78.76;QD=0.61;SB=20.08 GT:AD:DP:GL:GQ 0/1:80,29:48:-28.88,-17.72,-148.42:99 -chr1 2619934 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=0;HaplotypeScore=66.32;MQ=35.85;MQ0=29;OQ=172.74;QD=1.52;SB=-28.24 GT:AD:DP:GL:GQ 0/1:48,66:48:-35.03,-14.47,-147.33:99 -chr1 2619955 rs6604996 C G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=63.40;MQ=33.93;MQ0=36;OQ=1440.37;QD=13.21;SB=-479.54 GT:AD:DP:GL:GQ 1/1:0,108:38:-147.67,-11.48,-0.04:99 -chr1 2620070 rs12740972 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=47.55;MQ=45.30;MQ0=8;OQ=554.48;QD=5.72;SB=-255.88 GT:AD:DP:GL:GQ 0/1:70,21:53:-74.72,-15.98,-142.31:99 -chr1 2620085 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=0;HaplotypeScore=54.16;MQ=39.71;MQ0=11;OQ=120.34;QD=1.02;SB=-33.16 GT:AD:DP:GL:GQ 0/1:69,45:56:-32.19,-16.87,-164.99:99 -chr1 2620124 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=144;Dels=0.00;HRun=0;HaplotypeScore=63.81;MQ=34.92;MQ0=3;OQ=525.60;QD=3.65;SB=47.19 GT:AD:DP:GL:GQ 0/1:42,93:57:-80.08,-24.23,-172.63:99 -chr1 2620133 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=151;Dels=0.00;HRun=1;HaplotypeScore=107.36;MQ=34.37;MQ0=3;OQ=432.59;QD=2.86;SB=-11.69 GT:AD:DP:GL:GQ 0/1:52,96:55:-63.12,-16.58,-172.84:99 -chr1 2620148 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=170;Dels=0.00;HRun=3;HaplotypeScore=138.11;MQ=33.81;MQ0=6;OQ=406.05;QD=2.39;SB=-68.70 GT:AD:DP:GL:GQ 0/1:52,113:57:-61.06,-17.17,-159.71:99 -chr1 2620167 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=206;Dels=0.00;HRun=1;HaplotypeScore=129.33;MQ=31.98;MQ0=15;OQ=238.76;QD=1.16;SB=-5.73 GT:AD:DP:GL:GQ 0/1:136,68:69:-47.94,-20.78,-212.90:99 -chr1 2620268 rs12741311 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=74.94;MQ=48.87;MQ0=0;OQ=615.93;QD=7.90;SB=-166.53 GT:AD:DP:GL:GQ 0/1:39,39:52:-80.54,-15.66,-101.64:99 -chr1 2620338 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=100;Dels=0.00;HRun=0;HaplotypeScore=10.27;MQ=42.72;MQ0=7;OQ=159.57;QD=1.60;SB=-79.74 GT:AD:DP:GL:GQ 0/1:47,53:53:-35.21,-15.97,-154.39:99 -chr1 2620373 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=141;Dels=0.00;HRun=0;HaplotypeScore=37.37;MQ=38.59;MQ0=9;OQ=479.31;QD=3.40;SB=-63.47 GT:AD:DP:GL:GQ 0/1:49,92:64:-70.51,-19.30,-148.48:99 -chr1 2620382 . G A 119.16 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=145;Dels=0.00;HRun=0;HaplotypeScore=95.95;MQ=37.22;MQ0=9;QD=0.82;SB=68.14 GT:AD:DP:GL:GQ 0/1:86,59:65:-34.81,-19.61,-177.00:99 -chr1 2620388 . A C 105.30 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=153;Dels=0.00;HRun=1;HaplotypeScore=83.57;MQ=35.41;MQ0=9;QD=0.69;SB=-45.48 GT:AD:DP:GL:GQ 0/1:132,21:67:-34.00,-20.19,-204.42:99 -chr1 2620390 rs28376921 A C 238.82 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=152;Dels=0.00;HRun=3;HaplotypeScore=84.30;MQ=34.68;MQ0=9;QD=1.57;SB=-137.48 GT:AD:DP:GL:GQ 0/1:57,64:66:-69.75,-42.59,-188.12:99 -chr1 2620438 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=105;Dels=0.00;HRun=0;HaplotypeScore=39.76;MQ=41.64;MQ0=7;OQ=388.27;QD=3.70;SB=-212.33 GT:AD:DP:GL:GQ 0/1:46,59:60:-60.19,-18.08,-149.44:99 -chr1 2620448 . T C 36.03 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=101;Dels=0.00;HRun=0;HaplotypeScore=55.60;MQ=44.75;MQ0=3;QD=0.36;SB=59.63 GT:AD:DP:GL:GQ 0/1:72,27:62:-25.58,-18.69,-209.22:68.86 -chr1 2620451 rs28507126 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=42.59;MQ=44.33;MQ0=4;OQ=207.39;QD=2.07;SB=-2.70 GT:AD:DP:GL:GQ 0/1:56,44:55:-40.61,-16.58,-162.04:99 -chr1 2620498 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=143;Dels=0.00;HRun=0;HaplotypeScore=117.30;MQ=35.77;MQ0=21;OQ=96.72;QD=0.68;SB=-10.89 GT:AD:DP:GL:GQ 0/1:119,24:63:-31.93,-18.98,-196.03:99 -chr1 2620509 . C A 44.02 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=155;Dels=0.00;HRun=1;HaplotypeScore=149.75;MQ=36.71;MQ0=19;QD=0.28;SB=8.48 GT:AD:DP:GL:GQ 0/1:122,32:70:-28.77,-21.09,-215.81:76.85 -chr1 2620530 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=120;Dels=0.01;HRun=0;HaplotypeScore=86.24;MQ=39.02;MQ0=10;OQ=202.63;QD=1.69;SB=-58.78 GT:AD:DP:GL:GQ 0/1:60,45:53:-46.29,-22.74,-131.05:99 -chr1 2620553 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=4;HaplotypeScore=12.66;MQ=42.96;MQ0=4;OQ=154.29;QD=1.66;SB=6.59 GT:AD:DP:GL:GQ 0/1:47,46:55:-35.28,-16.57,-164.62:99 -chr1 2620589 rs4648687 C A 0.07 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=19.10;MQ=49.13;MQ0=2;OQ=495.80;QD=9.01;SB=-265.29 GT:AD:DP:GL:GQ 0/1:36,19:38:-64.31,-11.45,-69.99:99 -chr1 2620786 rs12742092 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=51.45;MQ=48.85;MQ0=1;OQ=289.75;QD=5.57;SB=-99.04 GT:AD:DP:GL:GQ 0/1:36,16:30:-41.30,-9.04,-64.97:99 -chr1 2620835 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=99.62;MQ=36.59;MQ0=7;OQ=441.17;QD=4.64;SB=-224.20 GT:AD:DP:GL:GQ 0/1:74,18:36:-60.73,-13.33,-87.56:99 -chr1 2620875 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=134;Dels=0.00;HRun=0;HaplotypeScore=107.69;MQ=35.97;MQ0=15;OQ=95.46;QD=0.71;SB=-26.90 GT:AD:DP:GL:GQ 0/1:113,19:59:-30.61,-17.78,-174.51:99 -chr1 2620960 . T A 14.94 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=17.98;MQ=48.66;MQ0=1;QD=0.38;SB=38.15 GT:AD:DP:GL:GQ 0/1:35,4:38:-16.21,-11.45,-119.38:47.63 -chr1 2621024 . C A 47.37 LowQual AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=15.73;MQ=45.56;MQ0=1;QD=1.18;SB=-9.87 GT:AD:DP:GL:GQ 0/1:33,7:35:-18.56,-10.54,-104.34:80.21 -chr1 2621154 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=51.59;MQ=53.22;MQ0=2;OQ=488.50;QD=9.77;SB=-206.66 GT:AD:DP:GL:GQ 0/1:29,19:38:-63.61,-11.47,-88.44:99 -chr1 2621346 rs12746691 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=78.63;MQ=48.13;MQ0=0;OQ=876.62;QD=14.61;SB=-440.96 GT:AD:DP:GL:GQ 0/1:34,26:44:-104.20,-13.26,-62.31:99 -chr1 2621414 rs12746841 C G 50.04 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=5.31;MQ=55.95;MQ0=0;OQ=526.83;QD=11.97;SB=-219.19 GT:AD:DP:GL:GQ 0/1:24,20:36:-66.82,-10.85,-82.62:99 -chr1 2621575 rs61766505 T A 0.76 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=9.78;MQ=51.58;MQ0=2;OQ=514.79;QD=12.26;SB=-105.13 GT:AD:DP:GL:GQ 0/1:24,18:33:-64.70,-9.94,-57.89:99 -chr1 2621592 rs11516514 C A 2.97 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=7.05;MQ=51.18;MQ0=2;OQ=412.67;QD=8.78;SB=-93.77 GT:AD:DP:GL:GQ 0/1:31,16:35:-55.10,-10.55,-68.38:99 -chr1 2621664 rs12743419 G A 126.86 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=54.07;MQ0=3;OQ=805.45;QD=17.14;SB=-279.82 GT:AD:DP:GL:GQ 0/1:16,31:40:-95.89,-12.06,-46.66:99 -chr1 2621957 rs12751643 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.02;HRun=1;HaplotypeScore=33.34;MQ=53.32;MQ0=0;OQ=1019.18;QD=17.27;SB=-299.66 GT:AD:DP:GL:GQ 0/1:24,34:54:-121.47,-16.27,-70.01:99 -chr1 2622417 . C G 34.36 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=22.88;MQ0=7;QD=1.01;SB=-10.00 GT:AD:DP:GL:GQ 0/1:28,6:20:-12.75,-6.03,-74.77:67.20 -chr1 2622422 rs11488613 G T 0.62 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=6.76;MQ=21.77;MQ0=7;OQ=525.32;QD=15.45;SB=-10.00 GT:AD:DP:GL:GQ 1/1:3,31:16:-56.12,-4.82,-0.00:48.14 -chr1 2622433 rs12752340 C A 26.89 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=20.67;MQ0=10;QD=0.75;SB=-10.00 GT:AD:DP:GL:GQ 0/1:30,6:16:-10.79,-4.82,-42.41:59.72 -chr1 2674088 . C G 42.96 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=11;Dels=0.00;HRun=0;HaplotypeScore=11.98;MQ=19.55;MQ0=6;QD=3.91;SB=-10.00 GT:AD:DP:GL:GQ 0/1:8,3:5:-9.09,-1.51,-12.64:75.79 -chr1 2674094 . C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=13;Dels=0.00;HRun=0;HaplotypeScore=17.86;MQ=18.47;MQ0=6;OQ=64.31;QD=4.95;SB=-10.00 GT:AD:DP:GL:GQ 0/1:10,3:4:-10.92,-1.20,-3.26:20.53 -chr1 2674111 . T A 27.07 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=32.32;MQ0=6;QD=1.80;SB=-6.99 GT:AD:DP:GL:GQ 0/1:12,3:7:-8.10,-2.11,-18.86:59.90 -chr1 2674112 . A G 16.12 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=32.32;MQ0=6;QD=1.07;SB=-6.99 GT:AD:DP:GL:GQ 0/1:12,3:7:-6.99,-2.11,-20.42:48.85 -chr1 2674407 . A G 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=13.44;MQ=45.39;MQ0=5;OQ=445.12;QD=11.41;SB=-215.68 GT:AD:DP:GL:GQ 0/1:16,22:32:-57.44,-9.65,-56.21:99 -chr1 2674852 rs61766513 G A 450.01 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=13.17;MQ0=18;OQ=519.69;QD=10.39;SB=-286.88 GT:AD:DP:GL:GQ 1/1:0,50:14:-55.56,-4.22,-0.00:42.14 -chr1 2676124 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=88;Dels=0.00;HRun=1;HaplotypeScore=15.64;MQ=24.04;MQ0=14;OQ=178.81;QD=2.03;SB=-90.56 GT:AD:DP:GL:GQ 0/1:59,29:40:-33.21,-12.05,-114.97:99 -chr1 2676150 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=19.23;MQ=23.09;MQ0=22;OQ=221.70;QD=2.33;SB=-83.88 GT:AD:DP:GL:GQ 0/1:54,41:38:-36.91,-11.46,-90.41:99 -chr1 2676190 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=0;HaplotypeScore=39.71;MQ=18.24;MQ0=31;OQ=65.56;QD=0.85;SB=-25.50 GT:AD:DP:GL:GQ 0/1:64,13:22:-16.48,-6.63,-57.54:98.40 -chr1 2676191 . G A 29.02 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=0;HaplotypeScore=39.71;MQ=17.81;MQ0=31;QD=0.39;SB=26.10 GT:AD:DP:GL:GQ 0/1:60,14:18:-11.61,-5.43,-50.51:61.85 -chr1 2676208 . G A 16.39 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=4.26;MQ=15.36;MQ0=32;QD=0.30;SB=-24.49 GT:AD:DP:GL:GQ 0/1:43,10:12:-8.53,-3.62,-33.94:49.13 -chr1 2676293 rs11486072 G T 42.12 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=21.44;MQ0=18;QD=0.68;SB=83.26 GT:AD:DP:GL:GQ 0/1:53,9:41:-19.85,-12.35,-121.85:74.96 -chr1 2676409 . C G 16.08 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=100;Dels=0.00;HRun=0;HaplotypeScore=24.91;MQ=14.80;MQ0=58;QD=0.16;SB=-10.00 GT:AD:DP:GL:GQ 0/1:83,17:12:-8.50,-3.62,-44.92:48.81 -chr1 2677515 . G T 19.05 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=120;Dels=0.00;HRun=0;HaplotypeScore=14.46;MQ=8.37;MQ0=110;QD=0.16;SB=-10.00 GT:AD:DP:GL:GQ 0/1:117,3:8:-7.59,-2.41,-19.90:51.83 -chr1 2677525 . C T 16.29 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=1;HaplotypeScore=20.34;MQ=9.26;MQ0=102;QD=0.14;SB=-10.00 GT:AD:DP:GL:GQ 0/1:110,4:10:-7.91,-3.01,-27.95:49.02 -chr1 2677552 . A T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=0;HaplotypeScore=12.35;MQ=15.52;MQ0=82;OQ=53.71;QD=0.48;SB=0.32 GT:AD:DP:GL:GQ 0/1:89,18:28:-23.83,-15.18,-91.71:86.54 -chr1 2677675 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=104;Dels=0.00;HRun=0;HaplotypeScore=15.33;MQ=33.22;MQ0=25;OQ=57.19;QD=0.55;SB=35.14 GT:AD:DP:GL:GQ 0/1:87,15:66:-28.89,-19.89,-231.82:90.03 -chr1 2677743 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=115;Dels=0.00;HRun=0;HaplotypeScore=4.26;MQ=19.03;MQ0=67;OQ=90.19;QD=0.78;SB=-10.00 GT:AD:DP:GL:GQ 0/1:98,17:39:-24.05,-11.75,-110.96:99 -chr1 2677829 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=128;Dels=0.00;HRun=0;HaplotypeScore=23.79;MQ=23.13;MQ0=70;OQ=279.18;QD=2.18;SB=-0.99 GT:AD:DP:GL:GQ 0/1:107,21:47:-45.38,-14.18,-109.88:99 -chr1 2677890 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=149;Dels=0.00;HRun=0;HaplotypeScore=41.46;MQ=39.72;MQ0=24;OQ=334.00;QD=2.24;SB=-111.40 GT:AD:DP:GL:GQ 0/1:125,24:98:-66.21,-29.53,-281.36:99 -chr1 2677918 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=135;Dels=0.00;HRun=0;HaplotypeScore=22.75;MQ=42.78;MQ0=7;OQ=406.29;QD=3.01;SB=-222.57 GT:AD:DP:GL:GQ 0/1:111,24:99:-73.74,-29.83,-281.76:99 -chr1 2678023 rs4601526 G T 43.97 LowQual AC=1;AF=0.50;AN=2;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=8.77;MQ=39.66;MQ0=3;QD=0.46;SB=-45.56 GT:AD:DP:GL:GQ 0/1:69,27:71:-29.07,-21.39,-211.74:76.81 -chr1 2678153 rs4287119 C T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DB;DP=112;Dels=0.00;HRun=0;HaplotypeScore=21.76;MQ=40.92;MQ0=5;OQ=2547.58;QD=22.75;SB=-1076.65 GT:AD:DP:GL:GQ 0/1:21,91:87:-284.26,-26.22,-47.57:99 -chr1 2679458 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=1;HaplotypeScore=42.73;MQ=34.12;MQ0=11;OQ=188.41;QD=2.36;SB=-47.79 GT:AD:DP:GL:GQ 0/1:51,29:31:-31.49,-9.36,-91.42:99 -chr1 2679642 . C G 45.83 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=102;Dels=0.00;HRun=0;HaplotypeScore=7.58;MQ=33.48;MQ0=11;QD=0.45;SB=71.27 GT:AD:DP:GL:GQ 0/1:93,9:79:-31.68,-23.81,-299.21:78.67 -chr1 2679803 rs56221638 T A 49.73 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=28.41;MQ=20.22;MQ0=17;QD=0.80;SB=-24.63 GT:AD:DP:GL:GQ 0/1:36,25:21:-14.59,-6.33,-59.48:82.57 -chr1 2679816 rs4648571 G A 0.30 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=13.76;MQ=19.63;MQ0=17;OQ=484.56;QD=8.35;SB=18.94 GT:AD:DP:GL:GQ 1/1:9,49:16:-54.94,-4.82,-2.91:19.19 -chr1 2680538 rs58288263 C A 0.59 PASS AC=1;AF=0.50;AN=2;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=19.45;MQ0=42;OQ=235.18;QD=2.28;SB=-135.60 GT:AD:DP:GL:GQ 0/1:70,33:45:-40.37,-13.56,-115.16:99 -chr1 2681143 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=141;Dels=0.00;HRun=0;HaplotypeScore=43.31;MQ=7.59;MQ0=129;OQ=216.62;QD=1.54;SB=-10.00 GT:AD:DP:GL:GQ 0/1:128,12:8:-27.36,-2.41,-6.90:44.81 -chr1 2681205 . C T 16.27 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=134;Dels=0.00;HRun=0;HaplotypeScore=11.46;MQ=9.18;MQ0=122;QD=0.12;SB=-10.00 GT:AD:DP:GL:GQ 0/1:130,4:11:-8.21,-3.31,-32.22:49.01 -chr1 2681386 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=85;Dels=0.02;HRun=1;HaplotypeScore=17.33;MQ=40.82;MQ0=2;OQ=547.52;QD=6.44;SB=26.11 GT:AD:DP:GL:GQ 0/1:58,25:71:-78.82,-20.79,-186.55:99 -chr1 2681420 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=107;Dels=0.00;HRun=0;HaplotypeScore=13.55;MQ=31.27;MQ0=32;OQ=249.95;QD=2.34;SB=17.08 GT:AD:DP:GL:GQ 0/1:90,15:70:-49.36,-21.09,-234.22:99 -chr1 2681440 . T G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=118;Dels=0.00;HRun=2;HaplotypeScore=12.17;MQ=28.00;MQ0=51;OQ=57.67;QD=0.49;SB=-0.98 GT:AD:DP:GL:GQ 0/1:103,11:57:-26.23,-17.18,-176.09:90.51 -chr1 2681463 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=112;Dels=0.00;HRun=0;HaplotypeScore=17.45;MQ=24.10;MQ0=61;OQ=86.42;QD=0.77;SB=-10.00 GT:AD:DP:GL:GQ 0/1:104,8:47:-26.08,-14.16,-135.23:99 -chr1 2681473 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=1;HaplotypeScore=11.36;MQ=22.15;MQ0=63;OQ=86.11;QD=0.79;SB=-10.00 GT:AD:DP:GL:GQ 0/1:101,7:42:-24.54,-12.65,-127.26:99 -chr1 2681679 rs61766519 A T 2.14 PASS AC=1;AF=0.50;AN=2;DB;DP=109;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=46.07;MQ0=2;OQ=403.94;QD=3.71;SB=-208.28 GT:AD:DP:GL:GQ 0/1:86,23:102:-74.40,-30.73,-305.98:99 -chr1 2681697 . C G 10.09 PASS AC=1;AF=0.50;AN=2;DP=117;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=45.11;MQ0=2;OQ=843.38;QD=7.21;SB=-230.77 GT:AD:DP:GL:GQ 0/1:84,33:113:-121.68,-34.06,-367.48:99 -chr1 2681715 rs4430271 G A 32.27 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.00;HRun=1;HaplotypeScore=3.54;MQ=44.60;MQ0=4;OQ=4104.48;QD=36.65;SB=-1313.32 GT:AD:DP:GL:GQ 1/1:1,111:104:-409.45,-31.34,-0.04:99 -chr1 2681869 . T C 23.42 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=42.88;MQ0=2;QD=0.35;SB=71.26 GT:AD:DP:GL:GQ 0/1:51,15:54:-21.90,-16.27,-186.51:56.24 -chr1 2681986 rs11586212 G A 7.71 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.27;MQ=47.82;MQ0=3;OQ=510.08;QD=6.80;SB=56.19 GT:AD:DP:GL:GQ 0/1:53,22:70:-75.38,-21.09,-180.91:99 -chr1 2682337 . G A 7.34 PASS AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=27.22;MQ0=23;OQ=345.10;QD=8.03;SB=-10.00 GT:AD:DP:GL:GQ 0/1:20,23:16:-42.61,-4.82,-16.65:99 -chr1 2682347 . G T 0.70 PASS AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=19.93;MQ0=26;OQ=183.77;QD=4.59;SB=-10.00 GT:AD:DP:GL:GQ 0/1:20,20:10:-24.67,-3.01,-11.27:82.62 -chr1 2682645 . C A 19.07 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=1;HaplotypeScore=2.93;MQ=11.47;MQ0=37;QD=0.33;SB=-0.98 GT:AD:DP:GL:GQ 0/1:31,27:8:-7.60,-2.41,-19.17:51.85 -chr1 2683816 rs10909957 C T 271.77 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.42;MQ=46.26;MQ0=0;OQ=686.46;QD=13.46;SB=-268.23 GT:AD:DP:GL:GQ 0/1:24,27:45:-85.49,-13.56,-81.02:99 -chr1 2684356 rs6424062 G A 144.95 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=59.15;MQ0=0;OQ=655.97;QD=13.39;SB=-112.11 GT:AD:DP:GL:GQ 0/1:26,23:46:-82.76,-13.88,-73.01:99 -chr1 2687573 rs4648459 G T 323.17 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=60.00;MQ0=0;OQ=991.84;QD=18.37;SB=-411.82 GT:AD:DP:GL:GQ 0/1:20,34:49:-117.23,-14.76,-57.58:99 -chr1 2689509 rs4648499 A C 571.48 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=812.32;QD=13.32;SB=-346.80 GT:AD:DP:GL:GQ 0/1:31,30:60:-102.59,-18.07,-113.17:99 -chr1 2689977 rs4648502 C G 37.31 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=4.68;MQ=58.83;MQ0=0;OQ=362.80;QD=11.34;SB=-98.64 GT:AD:DP:GL:GQ 0/1:15,17:26:-47.41,-7.85,-58.24:99 -chr1 2691287 rs10909982 A C 5.74 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=3;HaplotypeScore=1.88;MQ=58.74;MQ0=0;OQ=1314.76;QD=31.30;SB=-536.04 GT:AD:DP:GL:GQ 1/1:0,42:39:-135.08,-11.75,-0.02:99 -chr1 2691405 . T C 26.51 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=1;HaplotypeScore=1.83;MQ=54.55;MQ0=0;QD=0.72;SB=1.18 GT:AD:DP:GL:GQ 0/1:31,6:36:-16.78,-10.85,-121.87:59.34 -chr1 2691676 rs1456462 C G 51.18 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=3.07;MQ=56.36;MQ0=0;OQ=806.36;QD=17.53;SB=-304.60 GT:AD:DP:GL:GQ 0/1:21,25:41:-96.28,-12.36,-77.64:99 -chr1 2694331 rs12748553 C T 3.51 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=8.78;MQ=58.48;MQ0=0;OQ=835.97;QD=17.06;SB=-250.13 GT:AD:DP:GL:GQ 0/1:21,26:46:-100.74,-13.86,-71.99:99 -chr1 2694778 rs55972083 G T 162.91 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.66;MQ0=0;OQ=915.47;QD=16.64;SB=-316.68 GT:AD:DP:GL:GQ 0/1:25,30:54:-111.10,-16.27,-82.95:99 -chr1 2697298 rs7526311 A T 117.22 PASS AC=1;AF=0.50;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=59.01;MQ0=0;OQ=185.29;QD=9.75;SB=-41.37 GT:AD:DP:GL:GQ 0/1:12,7:18:-27.23,-5.42,-39.59:99 -chr1 2697760 . G T 0.81 PASS AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=2;HaplotypeScore=0.96;MQ=60.00;MQ0=0;OQ=344.69;QD=12.77;SB=-29.36 GT:AD:DP:GL:GQ 0/1:13,14:25:-45.29,-7.54,-35.79:99 -chr1 2697817 rs57572926 T A 7.58 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.48;MQ0=0;OQ=773.03;QD=21.47;SB=-134.51 GT:AD:DP:GL:GQ 0/1:11,25:35:-91.13,-10.54,-41.10:99 -chr1 2699252 rs12044475 G A 223.02 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.82;MQ=59.73;MQ0=0;OQ=1184.05;QD=17.41;SB=-586.14 GT:AD:DP:GL:GQ 0/1:32,36:66:-141.59,-19.90,-99.06:99 -chr1 2699436 rs12024170 C T 193.04 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=59.75;MQ0=0;OQ=1445.81;QD=19.54;SB=-655.75 GT:AD:DP:GL:GQ 0/1:31,43:72:-169.56,-21.69,-100.95:99 -chr1 2699862 rs6687680 G A 230.47 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.28;MQ0=0;OQ=1732.28;QD=19.25;SB=-761.79 GT:AD:DP:GL:GQ 0/1:40,50:89:-203.33,-26.82,-125.78:99 -chr1 2700237 . G A 246.23 PASS AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.74;MQ0=0;OQ=1343.35;QD=18.92;SB=-523.75 GT:AD:DP:GL:GQ 0/1:31,40:71:-159.02,-21.40,-102.65:99 -chr1 2702030 rs12731995 A G 434.35 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=677.81;QD=11.11;SB=-347.04 GT:AD:DP:GL:GQ 0/1:33,28:60:-89.15,-18.08,-132.37:99 -chr1 2703187 rs2377041 C T 502.97 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=621.61;QD=15.54;SB=-277.29 GT:AD:DP:GL:GQ 0/1:21,19:39:-77.20,-11.76,-63.03:99 -chr1 2704632 . T C 38.02 LowQual AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=4;HaplotypeScore=7.59;MQ=52.48;MQ0=0;QD=2.38;SB=-19.89 GT:AD:DP:GL:GQ 0/1:10,6:12:-10.71,-3.62,-29.51:70.86 -chr1 2704685 . G A 22.35 LowQual AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=0;HaplotypeScore=7.62;MQ=56.04;MQ0=0;QD=1.86;SB=-34.51 GT:AD:DP:GL:GQ 0/1:9,2:7:-7.63,-2.11,-16.67:55.16 -chr1 2704950 . A G 2.25 PASS AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=48.87;MQ0=0;OQ=588.34;QD=32.69;SB=-143.72 GT:AD:DP:GL:GQ 1/1:0,18:17:-62.42,-5.12,-0.01:51.15 -chr1 2705371 . T C 47.74 LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=60.80;MQ0=0;QD=2.51;SB=-6.99 GT:AD:DP:GL:GQ 0/1:12,6:14:-12.28,-4.22,-38.37:80.58 -chr1 2705380 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=2;HaplotypeScore=2.68;MQ=59.93;MQ0=0;OQ=62.82;QD=3.31;SB=-3.98 GT:AD:DP:GL:GQ 0/1:14,5:17:-14.69,-5.13,-40.99:95.66 -chr1 2706146 . A G 47.67 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=5;HaplotypeScore=3.46;MQ=57.94;MQ0=0;QD=1.40;SB=47.18 GT:AD:DP:GL:GQ 0/1:26,7:27:-16.19,-8.14,-86.26:80.50 -chr1 2706767 rs751358 G C 35.53 PASS AC=1;AF=0.50;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=240.08;QD=16.01;SB=-112.68 GT:AD:DP:GL:GQ 0/1:7,8:15:-31.82,-4.53,-27.47:99 -chr1 2708350 rs897627 T C 68.67 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=59.23;MQ0=0;OQ=241.23;QD=8.04;SB=-88.78 GT:AD:DP:GL:GQ 0/1:18,12:26:-35.25,-7.84,-56.33:99 -chr1 2709162 rs897626 T C 124.16 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=58.50;MQ0=0;OQ=297.67;QD=9.60;SB=-169.49 GT:AD:DP:GL:GQ 0/1:13,16:23:-39.99,-6.94,-39.26:99 -chr1 2709764 rs12725202 C A 209.03 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=59.58;MQ0=0;OQ=806.35;QD=14.66;SB=-275.34 GT:AD:DP:GL:GQ 0/1:27,28:48:-98.38,-14.47,-61.56:99 -chr1 2711436 rs897623 A G 190.36 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=58.98;MQ0=0;OQ=627.29;QD=15.30;SB=-199.45 GT:AD:DP:GL:GQ 0/1:15,26:39:-77.77,-11.76,-60.17:99 -chr1 2712708 rs6692145 C T 11.73 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=7.75;MQ=59.11;MQ0=0;OQ=873.72;QD=16.80;SB=-440.44 GT:AD:DP:GL:GQ 0/1:21,31:48:-105.13,-14.48,-65.51:99 -chr1 2713074 rs4648450 C A 220.10 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.84;MQ=59.19;MQ0=0;OQ=931.32;QD=16.34;SB=-352.41 GT:AD:DP:GL:GQ 0/1:24,33:49:-111.18,-14.76,-58.95:99 -chr1 2713205 rs4648360 C T 362.23 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.64;MQ0=0;OQ=808.14;QD=12.63;SB=-348.52 GT:AD:DP:GL:GQ 0/1:38,26:64:-103.39,-19.29,-126.27:99 -chr1 2713822 rs11588256 T C 179.59 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.44;MQ0=0;OQ=1164.73;QD=28.41;SB=-522.80 GT:AD:DP:GL:GQ 1/1:0,40:39:-122.64,-14.15,-2.58:99 -chr1 2715335 rs7537581 C A 258.05 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=59.30;MQ0=0;OQ=476.92;QD=14.45;SB=-256.43 GT:AD:DP:GL:GQ 0/1:16,17:32:-60.62,-9.64,-51.47:99 -chr1 2715367 rs56038961 C T 199.13 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=58.45;MQ0=0;OQ=479.64;QD=15.99;SB=-264.20 GT:AD:DP:GL:GQ 0/1:12,18:27:-59.39,-8.14,-35.88:99 -chr1 2716724 rs17387572 C G 92.23 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=2.10;MQ=58.95;MQ0=0;OQ=183.11;QD=8.32;SB=-57.73 GT:AD:DP:GL:GQ 0/1:14,8:19:-27.33,-5.74,-48.15:99 -chr1 2717498 rs10909879 G A 568.71 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.17;MQ0=0;OQ=638.90;QD=14.20;SB=-321.91 GT:AD:DP:GL:GQ 0/1:24,21:43:-80.13,-12.96,-77.89:99 -chr1 2717664 rs10909880 C T 111.56 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=3.85;MQ=58.20;MQ0=0;OQ=901.98;QD=16.40;SB=-412.72 GT:AD:DP:GL:GQ 0/1:27,27:53:-109.45,-15.96,-95.84:99 -chr1 2718581 rs2290583 C T 466.48 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.90;MQ0=0;OQ=858.25;QD=15.60;SB=-364.54 GT:AD:DP:GL:GQ 0/1:27,28:51:-104.48,-15.37,-82.61:99 -chr1 2720957 rs56242447 T C 191.02 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=60.00;MQ0=0;OQ=720.09;QD=11.43;SB=-266.23 GT:AD:DP:GL:GQ 0/1:29,34:60:-93.39,-18.10,-112.64:99 -chr1 2725957 rs4648454 C A 155.77 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.82;MQ=59.23;MQ0=0;OQ=2137.84;QD=35.63;SB=-968.57 GT:AD:DP:GL:GQ 1/1:0,60:60:-217.39,-18.07,-0.02:99 -chr1 2727346 rs4515734 C T 401.62 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.28;MQ0=0;OQ=1193.72;QD=37.30;SB=-333.34 GT:AD:DP:GL:GQ 1/1:0,32:32:-122.97,-9.64,-0.01:96.30 -chr1 2728125 rs11584658 C T 220.84 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=58.92;MQ0=0;OQ=363.72;QD=9.33;SB=-203.89 GT:AD:DP:GL:GQ 0/1:25,14:38:-51.11,-11.46,-81.85:99 -chr1 2728509 . C G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=28;Dels=0.00;HRun=2;HaplotypeScore=7.07;MQ=57.48;MQ0=0;OQ=153.44;QD=5.48;SB=38.15 GT:AD:DP:GL:GQ 0/1:17,11:22:-25.28,-6.65,-60.78:99 -chr1 2728983 rs12025517 T C 254.56 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=59.46;MQ0=0;OQ=692.09;QD=16.10;SB=-320.61 GT:AD:DP:GL:GQ 0/1:17,25:42:-87.78,-15.29,-69.40:99 -chr1 2731560 rs897622 T C 5.62 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=1.40;MQ=59.38;MQ0=0;OQ=1158.40;QD=31.31;SB=-281.53 GT:AD:DP:GL:GQ 1/1:0,37:35:-119.44,-10.55,-0.02:99 -chr1 2734276 rs56400103 G A 253.28 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=949.71;QD=17.92;SB=-409.46 GT:AD:DP:GL:GQ 0/1:24,29:51:-113.64,-15.38,-67.18:99 -chr1 2734570 rs12747919 T C 241.01 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=59.34;MQ0=0;OQ=778.48;QD=12.36;SB=-342.05 GT:AD:DP:GL:GQ 0/1:32,31:63:-100.12,-18.99,-128.39:99 -chr1 2734737 rs12125787 G A 71.93 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=3.70;MQ=57.83;MQ0=0;OQ=2028.15;QD=37.56;SB=-957.98 GT:AD:DP:GL:GQ 1/1:0,54:53:-206.42,-15.97,-0.02:99 -chr1 2735743 rs4609377 C T 266.10 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=58.76;MQ0=0;OQ=803.58;QD=14.35;SB=-286.83 GT:AD:DP:GL:GQ 0/1:31,25:54:-99.92,-16.28,-93.51:99 -chr1 2735926 rs1001620 G C 451.59 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=58.61;MQ0=0;OQ=977.15;QD=12.69;SB=-354.56 GT:AD:DP:GL:GQ 0/1:46,31:77:-124.21,-23.21,-202.34:99 -chr1 2739474 rs10797389 G A 308.93 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.84;MQ=60.00;MQ0=0;OQ=750.99;QD=15.65;SB=-309.79 GT:AD:DP:GL:GQ 0/1:23,25:47:-92.55,-14.16,-81.12:99 -chr1 2739576 rs4648481 G T 368.63 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.39;MQ=60.00;MQ0=0;OQ=793.99;QD=14.70;SB=-305.02 GT:AD:DP:GL:GQ 0/1:26,28:52:-98.35,-15.67,-82.42:99 -chr1 2739781 rs4648482 T C 14.80 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=4.29;MQ=58.44;MQ0=0;OQ=365.14;QD=8.69;SB=-69.92 GT:AD:DP:GL:GQ 0/1:24,18:40:-51.86,-12.06,-91.45:99 -chr1 2740297 rs1563471 C T 85.39 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=5.94;MQ=59.22;MQ0=0;OQ=682.02;QD=11.56;SB=-286.79 GT:AD:DP:GL:GQ 0/1:33,26:55:-88.08,-16.60,-99.20:99 -chr1 2740756 rs12132067 G A 288.53 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=2.87;MQ=59.52;MQ0=0;OQ=623.21;QD=12.98;SB=-250.12 GT:AD:DP:GL:GQ 0/1:27,21:48:-80.07,-14.46,-95.69:99 -chr1 2742125 rs7511879 A G 408.25 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=59.68;MQ0=0;OQ=942.16;QD=16.24;SB=-438.99 GT:AD:DP:GL:GQ 0/1:24,34:55:-114.07,-16.57,-91.14:99 -chr1 2742553 rs10797390 C T 146.24 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=59.59;MQ0=0;OQ=1057.36;QD=18.88;SB=-301.83 GT:AD:DP:GL:GQ 0/1:24,32:56:-125.89,-16.87,-83.67:99 -chr1 2743097 rs12031493 A G 99.82 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=5.23;MQ=59.34;MQ0=0;OQ=647.93;QD=9.26;SB=-314.90 GT:AD:DP:GL:GQ 0/1:40,29:67:-88.27,-20.19,-156.45:99 -chr1 2743232 rs11803074 T C 136.13 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=59.52;MQ0=0;OQ=450.58;QD=9.39;SB=-159.47 GT:AD:DP:GL:GQ 0/1:26,22:43:-61.31,-12.96,-94.61:99 -chr1 2743923 rs2377040 G A 85.94 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.57;MQ0=0;OQ=1679.85;QD=39.07;SB=-699.34 GT:AD:DP:GL:GQ 1/1:0,43:43:-171.58,-12.96,-0.02:99 -chr1 2744048 rs6691019 A G 253.73 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=599.61;QD=12.24;SB=-315.28 GT:AD:DP:GL:GQ 0/1:24,25:46:-77.11,-13.87,-86.95:99 -chr1 2744266 rs729045 A G 494.21 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=550.14;QD=10.19;SB=-251.93 GT:AD:DP:GL:GQ 0/1:30,24:53:-74.27,-15.97,-120.98:99 -chr1 2744372 rs6680471 C T 188.10 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=0.73;MQ=58.81;MQ0=0;OQ=743.73;QD=13.52;SB=-388.16 GT:AD:DP:GL:GQ 0/1:30,25:50:-92.73,-15.07,-87.39:99 -chr1 2744840 rs7541827 T G 3.84 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=3.30;MQ=53.60;MQ0=0;OQ=317.87;QD=7.95;SB=-163.88 GT:AD:DP:GL:GQ 0/1:27,13:38:-46.52,-11.45,-85.79:99 -chr1 2745157 rs10909938 C G 278.22 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=58.10;MQ0=0;OQ=946.24;QD=11.98;SB=-426.32 GT:AD:DP:GL:GQ 0/1:47,32:78:-121.44,-23.53,-202.08:99 -chr1 2745633 rs10909941 A G 382.13 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=59.59;MQ0=0;OQ=1890.77;QD=33.76;SB=-793.15 GT:AD:DP:GL:GQ 1/1:0,56:54:-192.68,-16.26,-0.02:99 -chr1 2746148 rs4648382 C T 75.36 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=4.95;MQ=58.25;MQ0=0;OQ=1103.18;QD=17.24;SB=-437.97 GT:AD:DP:GL:GQ 0/1:30,34:62:-132.29,-18.69,-91.91:99 -chr1 2746257 rs4648383 C T 112.72 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=59.45;MQ0=0;OQ=1198.75;QD=17.63;SB=-573.37 GT:AD:DP:GL:GQ 0/1:33,35:67:-143.34,-20.18,-115.97:99 -chr1 2746481 rs4648384 C A 147.70 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=2.23;MQ=58.55;MQ0=0;OQ=974.97;QD=15.98;SB=-482.87 GT:AD:DP:GL:GQ 0/1:29,32:59:-118.55,-17.77,-93.40:99 -chr1 2746667 rs7516014 G T 183 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=1.66;MQ=60.00;MQ0=0;OQ=529.64;QD=10.81;SB=-238.43 GT:AD:DP:GL:GQ 0/1:28,20:47:-70.41,-14.16,-95.06:99 -chr1 2746749 rs7548023 T G 93.22 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=3.08;MQ=57.92;MQ0=0;OQ=762.24;QD=14.12;SB=-346.84 GT:AD:DP:GL:GQ 0/1:27,27:54:-95.77,-16.26,-99.72:99 -chr1 2747056 rs4648495 T C 0.66 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=4;HaplotypeScore=4.04;MQ=53.57;MQ0=0;OQ=334.06;QD=9.83;SB=-158.61 GT:AD:DP:GL:GQ 0/1:15,19:25:-44.23,-7.54,-43.47:99 -chr1 2747271 rs4648496 A T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=20.04;MQ=49.89;MQ0=0;OQ=70.38;QD=0.95;SB=-47.55 GT:AD:DP:GL:GQ 0/1:64,10:68:-30.81,-20.49,-219.78:99 -chr1 2747291 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=65;Dels=0.03;HRun=0;HaplotypeScore=32.13;MQ=46.89;MQ0=0;OQ=444.72;QD=6.84;SB=-168.12 GT:AD:DP:GL:GQ 0/1:44,19:62:-65.84,-18.08,-149.47:99 -chr1 2747315 . A T 0.07 PASS AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=12.70;MQ=47.25;MQ0=0;OQ=757.92;QD=13.53;SB=-390.15 GT:AD:DP:GL:GQ 0/1:29,27:49:-93.84,-14.77,-85.21:99 -chr1 2747334 rs36040910 C G 1014.60 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.02;HRun=0;HaplotypeScore=10.13;MQ=46.42;MQ0=0;QD=19.14;SB=-531.73 GT:AD:DP:GL:GQ 0/1:24,28:52:-120.42,-15.67,-100.79:99 -chr1 2747338 . G C 826.30 SnpCluster AC=1;AF=0.50;AN=2;DP=48;Dels=0.02;HRun=0;HaplotypeScore=9.97;MQ=47.26;MQ0=0;QD=17.21;SB=-358.43 GT:AD:DP:GL:GQ 0/1:23,24:47:-99.78,-13.86,-101.33:99 -chr1 2747339 . A T 752.39 SnpCluster AC=1;AF=0.50;AN=2;DP=48;Dels=0.02;HRun=0;HaplotypeScore=3.00;MQ=47.26;MQ0=0;QD=15.67;SB=-313.68 GT:AD:DP:GL:GQ 0/1:23,24:47:-92.38,-13.86,-82.64:99 -chr1 2747369 . A T 3.22 PASS AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=49.16;MQ0=0;OQ=703.99;QD=14.37;SB=-261.27 GT:AD:DP:GL:GQ 0/1:25,24:47:-87.84,-14.16,-92.00:99 -chr1 2747375 rs61766530 T A 10.44 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=7.95;MQ=48.99;MQ0=0;OQ=615.25;QD=13.37;SB=-274.62 GT:AD:DP:GL:GQ 0/1:24,22:43:-77.76,-12.95,-81.15:99 -chr1 2747387 rs34464542 A T 0.10 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.05;HRun=0;HaplotypeScore=17.99;MQ=50.33;MQ0=0;OQ=475.32;QD=10.80;SB=-181.51 GT:AD:DP:GL:GQ 0/1:25,17:43:-63.16,-12.35,-94.24:99 -chr1 2747397 rs12739189 C T 56.98 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=5.47;MQ=51.77;MQ0=0;OQ=606.36;QD=14.44;SB=-321.86 GT:AD:DP:GL:GQ 0/1:23,19:42:-76.58,-12.66,-74.78:99 -chr1 2747562 rs35401657 A G 338.79 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=54.94;MQ0=0;OQ=916.49;QD=12.73;SB=-443.41 GT:AD:DP:GL:GQ 0/1:37,34:70:-119.52,-24.59,-154.08:99 -chr1 2747592 rs34262355 G A 349.69 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=54.28;MQ0=0;OQ=1032.22;QD=12.74;SB=-451.44 GT:AD:DP:GL:GQ 0/1:45,35:78:-130.02,-23.51,-145.95:99 -chr1 2747610 rs34202711 A G 414.76 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.97;MQ0=0;OQ=1011.04;QD=11.89;SB=-504.68 GT:AD:DP:GL:GQ 0/1:42,43:82:-129.10,-24.71,-172.46:99 -chr1 2747660 rs1456461 C T 603.75 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.82;MQ0=0;OQ=891.16;QD=15.63;SB=-457.95 GT:AD:DP:GL:GQ 0/1:30,27:57:-109.57,-17.17,-111.30:99 -chr1 2748044 rs12740180 C A 413.82 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=606.44;QD=10.83;SB=-262.28 GT:AD:DP:GL:GQ 0/1:33,23:54:-80.19,-16.26,-114.41:99 -chr1 2748753 rs2889541 G A 337.75 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.41;MQ0=0;OQ=1139.69;QD=16.05;SB=-477.50 GT:AD:DP:GL:GQ 0/1:37,34:70:-138.35,-21.10,-115.20:99 -chr1 2749666 rs12037615 A T 1.80 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=5;HaplotypeScore=1.16;MQ=59.20;MQ0=0;OQ=1128.99;QD=14.86;SB=-549.41 GT:AD:DP:GL:GQ 0/1:40,36:76:-139.07,-22.89,-148.90:99 -chr1 2749715 rs12047690 C T 131.06 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.63;MQ0=0;OQ=816.13;QD=12.95;SB=-150.20 GT:AD:DP:GL:GQ 0/1:36,27:60:-102.99,-18.09,-107.52:99 -chr1 2751235 rs12049543 C A 405.31 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=59.56;MQ0=0;OQ=1060.86;QD=12.63;SB=-512.22 GT:AD:DP:GL:GQ 0/1:47,37:84:-134.67,-25.30,-168.73:99 -chr1 2751390 rs1840738 T C 158.28 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=56.95;MQ0=0;OQ=466.03;QD=9.14;SB=-238.28 GT:AD:DP:GL:GQ 0/1:29,21:47:-64.06,-14.17,-105.57:99 -chr1 2751392 rs1840737 T C 150.88 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=56.89;MQ0=0;OQ=432.09;QD=8.64;SB=-211.35 GT:AD:DP:GL:GQ 0/1:30,20:46:-60.36,-13.87,-105.49:99 -chr1 2751468 rs1840736 C T 225.14 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=58.99;MQ0=0;OQ=538.81;QD=11.71;SB=-284.82 GT:AD:DP:GL:GQ 0/1:28,18:46:-71.04,-13.87,-86.92:99 -chr1 2751723 rs1456460 G T 356.16 PASS AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=57.19;MQ0=0;OQ=1157.64;QD=13.31;SB=-342.38 GT:AD:DP:GL:GQ 0/1:48,39:87:-145.25,-26.21,-162.75:99 -chr1 2753129 rs6424080 T C 316.66 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=59.51;MQ0=0;OQ=966.99;QD=12.24;SB=-274.18 GT:AD:DP:GL:GQ 0/1:43,36:77:-123.19,-23.21,-165.41:99 -chr1 2753241 rs6424081 G C 7.87 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=4;HaplotypeScore=2.76;MQ=58.85;MQ0=0;OQ=855.86;QD=17.47;SB=-443.74 GT:AD:DP:GL:GQ 0/1:25,24:49:-103.64,-14.77,-108.86:99 -chr1 2753928 rs10909950 G C 275.97 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.98;MQ0=0;OQ=738.28;QD=13.67;SB=-369.83 GT:AD:DP:GL:GQ 0/1:27,27:50:-92.19,-15.07,-120.46:99 -chr1 2754032 rs7553697 T C 122.97 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=50.90;MQ0=0;OQ=845.37;QD=27.27;SB=-371.38 GT:AD:DP:GL:GQ 1/1:0,31:28:-88.15,-8.45,-0.03:84.18 -chr1 2754183 rs6424082 A G 8.12 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=5.05;MQ=58.51;MQ0=0;OQ=416.20;QD=9.46;SB=-192.43 GT:AD:DP:GL:GQ 0/1:23,21:40:-56.97,-12.06,-83.18:99 -chr1 2754298 rs6424083 C G 173.34 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=55.35;MQ0=0;OQ=1296.80;QD=37.05;SB=-603.86 GT:AD:DP:GL:GQ 1/1:0,35:33:-133.29,-9.95,-0.02:99 -chr1 2754773 . G A 0.64 PASS AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=1;HaplotypeScore=3.22;MQ=60.00;MQ0=0;OQ=1109.61;QD=18.81;SB=-280.74 GT:AD:DP:GL:GQ 0/1:25,34:58:-131.72,-17.47,-86.47:99 -chr1 2754949 rs34133714 C T 67.94 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=57.50;MQ0=0;OQ=577.42;QD=16.98;SB=-168.27 GT:AD:DP:GL:GQ 0/1:16,18:34:-71.28,-10.25,-51.84:99 -chr1 2755031 rs34352177 T C 19.62 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=7.41;MQ=59.06;MQ0=0;OQ=899.29;QD=13.03;SB=-455.95 GT:AD:DP:GL:GQ 0/1:36,31:67:-116.13,-22.92,-145.73:99 -chr1 2755403 rs11806141 T G 18.81 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=6.77;MQ=51.89;MQ0=9;QD=0.27;SB=74.23 GT:AD:DP:GL:GQ 0/1:49,20:51:-20.52,-15.36,-159.70:51.59 -chr1 2755508 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=79;Dels=0.06;HRun=2;HaplotypeScore=38.09;MQ=49.34;MQ0=4;OQ=65.07;QD=0.82;SB=71.26 GT:AD:DP:GL:GQ 0/1:58,15:62:-27.57,-17.78,-196.95:97.90 -chr1 2755529 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=1;HaplotypeScore=65.45;MQ=46.51;MQ0=7;OQ=513.73;QD=7.04;SB=-185.79 GT:AD:DP:GL:GQ 0/1:43,30:51:-70.02,-15.37,-107.03:99 -chr1 2755532 . A G 42.46 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=67.89;MQ=46.23;MQ0=7;QD=0.57;SB=41.14 GT:AD:DP:GL:GQ 0/1:61,13:50:-22.60,-15.07,-170.16:75.29 -chr1 2755579 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=78;Dels=0.00;HRun=0;HaplotypeScore=21.20;MQ=45.33;MQ0=9;OQ=157.48;QD=2.02;SB=-23.25 GT:AD:DP:GL:GQ 0/1:60,12:47:-33.22,-14.19,-119.56:99 -chr1 2755596 rs11806928 A G 0.11 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=12.62;MQ=45.10;MQ0=9;OQ=205.66;QD=2.78;SB=-15.21 GT:AD:DP:GL:GQ 0/1:58,16:54:-40.13,-16.28,-162.81:99 -chr1 2755612 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=11.17;MQ=46.38;MQ0=5;OQ=126.58;QD=1.73;SB=14.62 GT:AD:DP:GL:GQ 0/1:63,10:57:-33.13,-17.19,-158.30:99 -chr1 2755632 rs10909952 C T 0.08 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=10.73;MQ=46.85;MQ0=3;OQ=64.17;QD=0.87;SB=26.06 GT:AD:DP:GL:GQ 0/1:61,13:47:-23.87,-14.17,-131.74:97 -chr1 2755643 . C T 0.06 PASS AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=7.11;MQ=46.66;MQ0=2;OQ=370.42;QD=5.22;SB=-83.91 GT:AD:DP:GL:GQ 0/1:46,20:49:-55.11,-14.78,-108.17:99 -chr1 2755657 rs61763677 G T 0.15 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=8.88;MQ=44.97;MQ0=5;OQ=282.63;QD=3.29;SB=-9.61 GT:AD:DP:GL:GQ 0/1:69,17:72:-53.24,-21.69,-193.61:99 -chr1 2755674 rs61763678 C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=106;Dels=0.00;HRun=0;HaplotypeScore=23.01;MQ=44.47;MQ0=7;OQ=292.56;QD=2.76;SB=-24.23 GT:AD:DP:GL:GQ 0/1:76,27:79:-56.37,-23.83,-203.58:99 -chr1 2755706 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=100;Dels=0.00;HRun=0;HaplotypeScore=46.46;MQ=43.46;MQ0=6;OQ=100.65;QD=1.01;SB=48.33 GT:AD:DP:GL:GQ 0/1:73,19:68:-33.86,-20.51,-216.35:99 -chr1 2755733 rs10909953 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=134.56;MQ=44.60;MQ0=11;OQ=218.03;QD=1.83;SB=-68.77 GT:AD:DP:GL:GQ 0/1:91,18:82:-72.98,-47.89,-237.50:99 -chr1 2755738 rs10909954 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=118;Dels=0.00;HRun=0;HaplotypeScore=94.54;MQ=44.07;MQ0=12;OQ=119.63;QD=1.01;SB=15.66 GT:AD:DP:GL:GQ 0/1:86,29:80:-42.04,-26.79,-256.64:99 -chr1 2755753 . G A 11.77 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=126;Dels=0.00;HRun=1;HaplotypeScore=33.32;MQ=44.33;MQ0=10;QD=0.09;SB=66.29 GT:AD:DP:GL:GQ 0/1:116,10:95:-33.05,-28.62,-308.21:44.31 -chr1 2755755 rs57067996 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=130;Dels=0.00;HRun=1;HaplotypeScore=39.46;MQ=44.65;MQ0=10;OQ=1208.64;QD=9.30;SB=-349.24 GT:AD:DP:GL:GQ 0/1:72,52:91:-151.57,-27.42,-186.87:99 -chr1 2755787 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=209;Dels=0.00;HRun=0;HaplotypeScore=9.86;MQ=44.22;MQ0=18;OQ=212.29;QD=1.02;SB=84.79 GT:AD:DP:GL:GQ 0/1:175,28:147:-68.83,-44.32,-479.03:99 -chr1 2755816 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=216;Dels=0.00;HRun=1;HaplotypeScore=62.94;MQ=43.89;MQ0=23;OQ=172.99;QD=0.80;SB=63.05 GT:AD:DP:GL:GQ 0/1:192,24:159:-68.50,-47.92,-487.91:99 -chr1 2755844 rs4991850 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=164;Dels=0.00;HRun=0;HaplotypeScore=53.96;MQ=43.72;MQ0=16;OQ=1135.99;QD=6.93;SB=-394.17 GT:AD:DP:GL:GQ 0/1:112,52:121:-153.35,-36.47,-275.01:99 -chr1 2755847 rs57868894 T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=161;Dels=0.00;HRun=1;HaplotypeScore=64.38;MQ=43.84;MQ0=16;OQ=859.67;QD=5.34;SB=-128.73 GT:AD:DP:GL:GQ 0/1:103,58:122:-126.01,-36.76,-296.17:99 -chr1 2755864 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=139;Dels=0.00;HRun=0;HaplotypeScore=32.56;MQ=44.46;MQ0=14;OQ=96.62;QD=0.70;SB=30.17 GT:AD:DP:GL:GQ 0/1:117,20:102:-43.73,-30.78,-282.87:99 -chr1 2755889 rs4991849 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=114;Dels=0.04;HRun=2;HaplotypeScore=40.28;MQ=47.08;MQ0=9;OQ=2321.13;QD=20.36;SB=-1120.12 GT:AD:DP:GL:GQ 0/1:18,92:93:-262.51,-27.11,-65.29:99 -chr1 2755910 rs12728224 T G 16.56 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=95;Dels=0.00;HRun=1;HaplotypeScore=2.13;MQ=49.38;MQ0=5;QD=0.17;SB=88.35 GT:AD:DP:GL:GQ 0/1:84,11:79:-28.73,-23.80,-253.95:49.30 -chr1 2755924 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=0;HaplotypeScore=18.40;MQ=49.90;MQ0=6;OQ=1394.92;QD=15.16;SB=-476.13 GT:AD:DP:GL:GQ 0/1:39,53:66:-162.68,-19.90,-75.57:99 -chr1 2755992 . G A 33.66 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=19.55;MQ=45.20;MQ0=8;QD=0.40;SB=27.48 GT:AD:DP:GL:GQ 0/1:73,12:61:-25.05,-18.40,-176.14:66.50 -chr1 2756013 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=17.90;MQ=45.32;MQ0=5;OQ=157.50;QD=2.67;SB=-33.78 GT:AD:DP:GL:GQ 0/1:38,21:37:-30.19,-11.15,-106.30:99 -chr1 2756025 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=1;HaplotypeScore=4.66;MQ=45.60;MQ0=4;OQ=63.13;QD=1.15;SB=26.12 GT:AD:DP:GL:GQ 0/1:45,10:38:-21.07,-11.48,-129.01:95.97 -chr1 2756051 rs4992290 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=36.34;MQ=44.26;MQ0=6;OQ=205.91;QD=3.38;SB=35.13 GT:AD:DP:GL:GQ 0/1:37,24:36:-34.74,-10.86,-87.18:99 -chr1 2756088 rs6676347 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=50.22;MQ=41.73;MQ0=14;OQ=1315.11;QD=15.29;SB=-568.14 GT:AD:DP:GL:GQ 0/1:37,49:48:-149.26,-14.46,-35.10:99 -chr1 2756101 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=84;Dels=0.00;HRun=1;HaplotypeScore=21.36;MQ=40.87;MQ0=15;OQ=73.71;QD=0.88;SB=47.17 GT:AD:DP:GL:GQ 0/1:64,20:51:-26.02,-15.36,-158.57:99 -chr1 2756151 rs4648513 T C 97.75 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=50.77;MQ0=9;OQ=1380.54;QD=20.92;SB=-651.39 GT:AD:DP:GL:GQ 1/1:9,57:48:-150.01,-14.48,-8.38:61.01 -chr1 2756174 rs59048447 G A 70.95 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=5.41;MQ=56.28;MQ0=2;OQ=675.24;QD=12.74;SB=-328.31 GT:AD:DP:GL:GQ 0/1:26,27:46:-84.67,-13.86,-86.53:99 -chr1 2756831 rs4648515 C T 238.63 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.65;MQ=59.11;MQ0=0;OQ=2661.31;QD=39.14;SB=-1337.11 GT:AD:DP:GL:GQ 1/1:1,67:68:-272.30,-20.49,-2.59:99 -chr1 2757061 rs4648518 A G 438.92 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1894.09;QD=32.66;SB=-719.10 GT:AD:DP:GL:GQ 1/1:0,58:55:-193.02,-16.57,-0.02:99 -chr1 2757563 rs4648519 C T 617.31 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.79;MQ0=0;OQ=2063.43;QD=38.21;SB=-1058.93 GT:AD:DP:GL:GQ 1/1:0,54:53:-209.94,-15.97,-0.02:99 -chr1 2758482 . C T 0.54 PASS AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=50.17;MQ0=3;OQ=191.27;QD=4.25;SB=-120.51 GT:AD:DP:GL:GQ 0/1:31,14:38:-33.86,-11.45,-100.08:99 -chr1 2758751 . T G 48.69 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=34.31;MQ0=7;QD=1.62;SB=-11.91 GT:AD:DP:GL:GQ 0/1:21,9:22:-14.78,-6.63,-62.96:81.53 -chr1 2758819 . A G 182.25 PASS AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=42.84;MQ0=2;OQ=868.67;QD=27.15;SB=-395.30 GT:AD:DP:GL:GQ 1/1:1,31:28:-90.48,-8.45,-0.03:84.20 -chr1 2758861 . T C 30.75 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=1;HaplotypeScore=1.14;MQ=44.85;MQ0=1;QD=0.90;SB=29.12 GT:AD:DP:GL:GQ 0/1:26,7:26:-14.19,-7.84,-86.43:63.58 -chr1 2758882 . G A 6.14 PASS AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=35.37;MQ0=5;OQ=748.79;QD=17.41;SB=-255.79 GT:AD:DP:GL:GQ 0/1:14,29:29:-86.90,-8.74,-21.14:99 -chr1 2758933 . T C 5.05 PASS AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=4.40;MQ=30.24;MQ0=6;OQ=270.13;QD=7.50;SB=-156.34 GT:AD:DP:GL:GQ 0/1:9,26:16:-35.12,-4.83,-17.51:99 -chr1 2758959 . T G 27.66 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=27.02;MQ0=8;QD=0.92;SB=-23.52 GT:AD:DP:GL:GQ 0/1:24,6:11:-9.36,-3.32,-25.67:60.48 -chr1 2759011 . T G 0.06 PASS AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=1;HaplotypeScore=3.83;MQ=18.26;MQ0=23;OQ=314.04;QD=4.42;SB=-69.87 GT:AD:DP:GL:GQ 0/1:37,34:26:-42.52,-7.83,-50.68:99 -chr1 2759038 . G T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=0;HaplotypeScore=15.13;MQ=25.49;MQ0=29;OQ=89.07;QD=0.97;SB=-9.29 GT:AD:DP:GL:GQ 0/1:85,7:35:-22.74,-10.55,-90.79:99 -chr1 2759090 . G T 15.10 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=11.61;MQ=28.51;MQ0=10;QD=0.35;SB=-6.99 GT:AD:DP:GL:GQ 0/1:32,11:16:-9.61,-4.83,-35.57:47.80 -chr1 2759130 rs61763686 T C 37.28 LowQual AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=18.78;MQ0=1;QD=12.43;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,3:2:-7.14,-0.60,-0.00:6.02 -chr1 2759142 . G A 1.53 PASS AC=1;AF=0.50;AN=2;DP=6;Dels=0.00;HRun=0;HaplotypeScore=-0.12;MQ=18.78;MQ0=2;OQ=80.16;QD=13.36;SB=-10.00 GT:AD:DP:GL:GQ 0/1:3,3:4:-12.50,-1.21,-3.10:18.91 -chr1 2759167 . G T 2.82 PASS AC=1;AF=0.50;AN=2;DP=22;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=26.71;MQ0=4;OQ=151.71;QD=6.90;SB=-6.99 GT:AD:DP:GL:GQ 0/1:16,6:14:-22.67,-4.22,-28.76:99 -chr1 2759193 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=15.10;MQ=26.07;MQ0=10;OQ=142.00;QD=2.90;SB=-61.29 GT:AD:DP:GL:GQ 0/1:38,11:32:-27.13,-9.65,-83.88:99 -chr1 2759219 . G T 0.58 PASS AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.57;MQ=27.42;MQ0=13;OQ=233.66;QD=3.03;SB=-10.31 GT:AD:DP:GL:GQ 0/1:59,18:48:-41.11,-14.46,-126.09:99 -chr1 2759237 rs10909961 G A 0.07 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=9.56;MQ=30.14;MQ0=15;OQ=68.31;QD=0.77;SB=29.11 GT:AD:DP:GL:GQ 0/1:82,7:55:-26.69,-16.57,-172.16:99 -chr1 2759271 . G T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=31.60;MQ0=17;OQ=103.26;QD=1.09;SB=14.07 GT:AD:DP:GL:GQ 0/1:79,16:53:-29.57,-15.96,-157.88:99 -chr1 2759402 rs10752737 G A 706.16 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=50.81;MQ0=0;OQ=3330.93;QD=38.29;SB=-1475.63 GT:AD:DP:GL:GQ 1/1:0,87:84:-332.09,-25.31,-0.03:99 -chr1 2759793 rs6665646 C T 285.69 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=59.67;MQ0=0;OQ=1210.11;QD=17.54;SB=-511.14 GT:AD:DP:GL:GQ 0/1:33,36:69:-145.09,-20.79,-106.44:99 -chr1 2760042 rs6679343 A T 0.12 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=6;HaplotypeScore=1.76;MQ=59.01;MQ0=0;OQ=2240.29;QD=33.94;SB=-793.89 GT:AD:DP:GL:GQ 1/1:0,66:63:-227.64,-18.99,-0.03:99 -chr1 2761186 . C G 0.63 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=4;HaplotypeScore=1.71;MQ=59.37;MQ0=0;OQ=541.38;QD=12.30;SB=-216.32 GT:AD:DP:GL:GQ 0/1:26,18:41:-69.78,-12.36,-101.99:99 -chr1 2761364 rs12743952 G A 204.61 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=59.65;MQ0=0;OQ=611.70;QD=11.33;SB=-279.20 GT:AD:DP:GL:GQ 0/1:32,22:50:-79.52,-15.07,-100.94:99 -chr1 2761375 rs12743965 G A 240.15 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=59.65;MQ0=0;OQ=726.42;QD=13.45;SB=-307.80 GT:AD:DP:GL:GQ 0/1:31,23:53:-91.89,-15.96,-108.39:99 -chr1 2761483 rs34161193 G A 219.36 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=58.78;MQ0=0;OQ=505.10;QD=13.29;SB=-258.15 GT:AD:DP:GL:GQ 0/1:20,17:37:-64.94,-11.15,-70.90:99 -chr1 2761516 rs35134901 G C 42.78 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=3;HaplotypeScore=0.79;MQ=58.89;MQ0=0;OQ=485.26;QD=11.55;SB=-253.13 GT:AD:DP:GL:GQ 0/1:25,17:38:-63.28,-11.47,-90.46:99 -chr1 2761538 rs35767265 C A 434.92 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=663.44;QD=13.54;SB=-277.32 GT:AD:DP:GL:GQ 0/1:26,23:47:-83.79,-14.16,-83.28:99 -chr1 2761907 rs35313744 A C 3.99 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=4;HaplotypeScore=1.29;MQ=59.00;MQ0=0;OQ=545.25;QD=12.98;SB=-173.29 GT:AD:DP:GL:GQ 0/1:20,22:40:-69.86,-12.05,-71.88:99 -chr1 2762054 rs6694484 G A 356.15 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.79;MQ0=0;OQ=715.90;QD=13.26;SB=-315.29 GT:AD:DP:GL:GQ 0/1:29,25:51:-90.24,-15.37,-99.20:99 -chr1 2762207 rs6675221 C A 216.75 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=59.45;MQ0=0;OQ=527.73;QD=12.57;SB=-249.28 GT:AD:DP:GL:GQ 0/1:21,20:39:-67.80,-11.75,-71.40:99 -chr1 2762658 rs12727394 T C 169.21 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=60.00;MQ0=0;OQ=383.94;QD=11.63;SB=-133.29 GT:AD:DP:GL:GQ 0/1:17,15:29:-50.42,-8.74,-57.72:99 -chr1 2763115 rs12729596 C T 224.28 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=59.16;MQ0=0;OQ=609.66;QD=12.19;SB=-271.12 GT:AD:DP:GL:GQ 0/1:30,20:50:-79.31,-15.06,-107.78:99 -chr1 2763349 rs6660680 C G 206.84 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=2.16;MQ=59.65;MQ0=0;OQ=809.85;QD=15.28;SB=-407.93 GT:AD:DP:GL:GQ 0/1:28,25:49:-99.04,-14.78,-104.68:99 -chr1 2763426 rs6660759 C T 169.45 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=58.89;MQ0=0;OQ=778.20;QD=18.53;SB=-350.90 GT:AD:DP:GL:GQ 0/1:15,27:38:-92.57,-11.46,-40.16:99 -chr1 2763555 rs6674204 A G 358.56 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.38;MQ0=0;OQ=1244.75;QD=33.64;SB=-466.51 GT:AD:DP:GL:GQ 1/1:0,37:36:-128.07,-10.85,-0.01:99 -chr1 2763913 rs7529000 A G 539.75 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=590.27;QD=13.73;SB=-268.99 GT:AD:DP:GL:GQ 0/1:19,24:38:-73.77,-11.46,-59.16:99 -chr1 2765576 . A G 299.17 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.30;MQ0=1;OQ=708.87;QD=14.18;SB=-362.49 GT:AD:DP:GL:GQ 0/1:25,25:46:-88.03,-13.85,-86.85:99 -chr1 2765703 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=40;Dels=0.03;HRun=1;HaplotypeScore=65.65;MQ=34.06;MQ0=6;OQ=224.51;QD=5.61;SB=-69.85 GT:AD:DP:GL:GQ 0/1:16,18:20:-31.76,-6.02,-57.23:99 -chr1 2765716 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=2;HaplotypeScore=45.86;MQ=31.67;MQ0=6;OQ=473.81;QD=11.56;SB=-227.60 GT:AD:DP:GL:GQ 0/1:7,34:22:-57.29,-6.63,-24.20:99 -chr1 2765718 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=49.51;MQ=31.73;MQ0=6;OQ=139.31;QD=3.48;SB=14.07 GT:AD:DP:GL:GQ 0/1:34,6:18:-22.64,-5.42,-43.65:99 -chr1 2765729 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=2;HaplotypeScore=101.24;MQ=39.70;MQ0=5;OQ=348.53;QD=8.30;SB=-73.03 GT:AD:DP:GL:GQ 0/1:25,16:29:-48.99,-10.85,-57.39:99 -chr1 2765740 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=1;HaplotypeScore=21.54;MQ=47.97;MQ0=0;OQ=288.34;QD=9.94;SB=-104.59 GT:AD:DP:GL:GQ 0/1:16,13:26:-39.95,-7.84,-58.99:99 -chr1 2765813 . A G 11.29 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=1;HaplotypeScore=3.58;MQ=51.84;MQ0=0;OQ=780.70;QD=15.61;SB=-390.27 GT:AD:DP:GL:GQ 0/1:21,28:48:-95.81,-14.46,-83.37:99 -chr1 2765894 . A C 0.06 PASS AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=11.31;MQ=45.14;MQ0=0;OQ=337.42;QD=9.37;SB=-140.89 GT:AD:DP:GL:GQ 0/1:21,15:33:-46.96,-9.94,-71.34:99 -chr1 2765910 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=53;Dels=0.02;HRun=1;HaplotypeScore=33.31;MQ=38.51;MQ0=0;OQ=588.92;QD=11.11;SB=23.11 GT:AD:DP:GL:GQ 0/1:28,24:46:-75.73,-13.55,-102.75:99 -chr1 2765957 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=113;Dels=0.00;HRun=2;HaplotypeScore=176.91;MQ=27.98;MQ0=17;OQ=352.77;QD=3.12;SB=2.45 GT:AD:DP:GL:GQ 0/1:85,28:53:-54.54,-15.98,-142.28:99 -chr1 2765968 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=120;Dels=0.00;HRun=1;HaplotypeScore=118.45;MQ=28.99;MQ0=17;OQ=151.04;QD=1.26;SB=-15.93 GT:AD:DP:GL:GQ 0/1:95,25:59:-36.17,-17.78,-173.10:99 -chr1 2765995 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=0;HaplotypeScore=52.19;MQ=34.85;MQ0=7;OQ=128.24;QD=1.78;SB=-51.69 GT:AD:DP:GL:GQ 0/1:61,11:54:-32.38,-16.27,-203.82:99 -chr1 2765996 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=1;HaplotypeScore=51.72;MQ=35.05;MQ0=7;OQ=180.10;QD=2.54;SB=-41.96 GT:AD:DP:GL:GQ 0/1:59,12:54:-37.57,-16.27,-158.22:99 -chr1 2766902 rs34376289 C T 393.03 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.48;MQ0=0;OQ=811.67;QD=17.64;SB=-367.51 GT:AD:DP:GL:GQ 0/1:20,26:45:-98.01,-13.56,-71.88:99 -chr1 2768626 rs10909992 C T 335.77 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=58.57;MQ0=0;OQ=811.02;QD=12.48;SB=-416.42 GT:AD:DP:GL:GQ 0/1:35,29:62:-103.08,-18.70,-112.11:99 -chr1 2768752 rs12409918 A C 74.45 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=2.55;MQ=59.57;MQ0=0;OQ=965.61;QD=17.88;SB=-402.66 GT:AD:DP:GL:GQ 0/1:20,34:50:-114.91,-15.06,-60.43:99 -chr1 2768903 rs12409348 T C 172.05 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.28;MQ=60.00;MQ0=0;OQ=398.89;QD=10.50;SB=-78.75 GT:AD:DP:GL:GQ 0/1:20,17:35:-53.71,-10.54,-80.33:99 -chr1 2769019 rs10909995 C G 17.82 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=58.48;MQ0=0;OQ=1462.05;QD=36.55;SB=-653.43 GT:AD:DP:GL:GQ 1/1:0,40:35:-149.81,-10.55,-0.02:99 -chr1 2769620 rs28600853 C T 67.23 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=57.53;MQ0=0;OQ=1091.29;QD=28.72;SB=-540.63 GT:AD:DP:GL:GQ 0/1:4,33:36:-123.26,-10.85,-13.62:27.66 -chr1 2769674 rs4648542 G A 90.82 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=3.80;MQ=51.80;MQ0=1;OQ=271.91;QD=9.71;SB=-148.61 GT:AD:DP:GL:GQ 0/1:13,15:21:-36.80,-6.33,-39.42:99 -chr1 2769679 rs28367217 C G 36.02 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=51.80;MQ0=1;OQ=209.26;QD=8.37;SB=2.04 GT:AD:DP:GL:GQ 0/1:15,10:18:-29.64,-5.43,-44.14:99 -chr1 2769692 rs28478242 A G 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=21;Dels=0.00;HRun=4;HaplotypeScore=0.82;MQ=53.88;MQ0=1;OQ=89.42;QD=4.26;SB=5.05 GT:AD:DP:GL:GQ 0/1:15,6:17:-17.35,-5.12,-46.13:99 -chr1 2769752 rs7542593 T C 75.28 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=56.77;MQ0=0;OQ=136.56;QD=6.21;SB=-67.76 GT:AD:DP:GL:GQ 0/1:10,12:17:-22.07,-5.13,-38.52:99 -chr1 2769805 rs4648543 T G 0.02 FDRtranche1.00to2.00 AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=4;HaplotypeScore=2.68;MQ=55.12;MQ0=0;OQ=754.89;QD=29.03;SB=-110.69 GT:AD:DP:GL:GQ 1/1:0,26:23:-79.08,-6.93,-0.01:69.18 -chr1 2770855 rs729178 T G 35.70 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=57.97;MQ0=0;OQ=332.17;QD=14.44;SB=-62.09 GT:AD:DP:GL:GQ 0/1:7,16:18:-41.92,-5.42,-18.71:99 -chr1 2770856 rs729177 T C 47.89 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=57.97;MQ0=0;OQ=319.36;QD=13.89;SB=-53.86 GT:AD:DP:GL:GQ 0/1:7,16:20:-41.25,-6.03,-26.63:99 -chr1 2772453 rs12119163 G A 585.03 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1388.32;QD=37.52;SB=-625.84 GT:AD:DP:GL:GQ 1/1:0,37:36:-142.43,-10.85,-0.01:99 -chr1 2772603 rs7551868 T C 19.40 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=3.77;MQ=58.92;MQ0=0;OQ=1140.34;QD=29.24;SB=-578.97 GT:AD:DP:GL:GQ 1/1:0,39:37:-117.66,-11.16,-0.04:99 -chr1 2772900 rs4648402 T C 156.21 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=58.00;MQ0=0;OQ=994.66;QD=28.42;SB=-468.49 GT:AD:DP:GL:GQ 1/1:0,35:33:-103.09,-9.96,-0.03:99 -chr1 2773675 rs12752112 G C 9.49 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=58.95;MQ0=0;OQ=859.11;QD=39.05;SB=-325.45 GT:AD:DP:GL:GQ 1/1:0,22:21:-89.50,-6.33,-0.01:63.21 -chr1 2776554 rs1563470 T C 23.92 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=4.69;MQ=60.00;MQ0=0;OQ=1838.24;QD=33.42;SB=-908.03 GT:AD:DP:GL:GQ 1/1:0,55:52:-187.42,-15.66,-0.02:99 -chr1 2777013 rs897616 C G 7.16 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=3;HaplotypeScore=1.07;MQ=58.26;MQ0=0;OQ=1193.61;QD=34.10;SB=-446.20 GT:AD:DP:GL:GQ 1/1:0,35:30:-122.96,-9.05,-0.02:90.29 -chr1 2777567 rs897620 C G 317.44 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1920.95;QD=42.69;SB=-716.92 GT:AD:DP:GL:GQ 1/1:0,45:44:-195.69,-13.26,-0.01:99 -chr1 2778573 rs56273341 A G 89.85 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.42;MQ0=0;OQ=1164.73;QD=29.12;SB=-590.57 GT:AD:DP:GL:GQ 1/1:0,40:37:-120.09,-11.16,-0.03:99 -chr1 2779035 rs12569164 T C 119.85 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=49.75;MQ0=0;OQ=1623.80;QD=28.49;SB=-755.66 GT:AD:DP:GL:GQ 1/1:0,57:53:-166.02,-15.99,-0.06:99 -chr1 2779347 . T C 140.90 Indel AC=1;AF=0.50;AN=2;DP=70;Dels=0.03;HRun=0;HaplotypeScore=53.64;MQ=31.59;MQ0=1;QD=2.01;SB=-93.61 GT:AD:DP:GL:GQ 0/1:59,9:55:-33.34,-15.96,-177.98:99 -chr1 2779357 rs55740077 T C 137.39 Indel;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=61.84;MQ=29.83;MQ0=1;QD=1.99;SB=-25.89 GT:AD:DP:GL:GQ 0/1:28,41:15:-21.54,-4.52,-37.07:99 -chr1 2779361 rs55927204 T C 380.25 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=52.10;MQ=29.71;MQ0=1;QD=5.51;SB=-184.74 GT:AD:DP:GL:GQ 0/1:7,62:16:-46.13,-4.82,-12.60:77.76 -chr1 2779365 . T C 528.78 SnpCluster AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=50.77;MQ=30.92;MQ0=1;QD=7.24;SB=-289.59 GT:AD:DP:GL:GQ 0/1:6,67:20:-62.19,-6.02,-12.60:65.71 -chr1 2779369 . T C 809.75 SnpCluster AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=0;HaplotypeScore=40.71;MQ=31.11;MQ0=1;QD=10.52;SB=-337.36 GT:AD:DP:GL:GQ 0/1:9,68:31:-93.60,-9.34,-19.91:99 -chr1 2779373 rs56012041 T C 260.44 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=37.08;MQ=32.24;MQ0=1;QD=3.38;SB=-116.63 GT:AD:DP:GL:GQ 0/1:28,49:21:-35.65,-6.33,-44.87:99 -chr1 2779421 rs5023660 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.02;HRun=3;HaplotypeScore=23.36;MQ=40.90;MQ0=1;OQ=1397.64;QD=21.18;SB=-647.72 GT:AD:DP:GL:GQ 0/1:24,41:55:-159.31,-16.27,-52.10:99 -chr1 2779423 rs56155638 T C 0.07 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.02;HRun=0;HaplotypeScore=20.03;MQ=40.90;MQ0=1;OQ=1243.01;QD=18.83;SB=-541.02 GT:AD:DP:GL:GQ 0/1:23,42:56:-144.15,-16.57,-59.53:99 -chr1 2779766 rs2124661 C G 42.55 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=49.71;MQ0=0;OQ=2767.03;QD=41.92;SB=-1222.51 GT:AD:DP:GL:GQ 1/1:0,66:63:-280.30,-18.98,-0.02:99 -chr1 2779832 rs2168531 C T 260.48 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.21;MQ=50.55;MQ0=0;OQ=2553.68;QD=38.69;SB=-1139.52 GT:AD:DP:GL:GQ 1/1:0,66:66:-258.98,-19.89,-0.03:99 -chr1 2780005 . G C 32.52 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=1;HaplotypeScore=15.63;MQ=58.92;MQ0=0;QD=0.76;SB=44.18 GT:AD:DP:GL:GQ 0/1:33,10:29:-15.29,-8.76,-103.60:65.36 -chr1 2781003 rs10910023 C T 121.93 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=59.11;MQ0=0;OQ=1930.80;QD=37.13;SB=-708.95 GT:AD:DP:GL:GQ 1/1:0,52:49:-196.68,-14.76,-0.01:99 -chr1 2781813 rs12131393 C T 195.76 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=701.85;QD=13.76;SB=-265.19 GT:AD:DP:GL:GQ 0/1:28,23:44:-86.73,-13.26,-75.43:99 -chr1 2781975 rs12131450 C T 0.88 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=915.40;QD=20.80;SB=-418.48 GT:AD:DP:GL:GQ 0/1:17,27:44:-108.08,-13.26,-61.20:99 -chr1 2784004 rs10909791 C T 0.07 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=18.57;MQ=55.20;MQ0=0;OQ=554.87;QD=8.95;SB=-141.63 GT:AD:DP:GL:GQ 0/1:38,21:51:-74.16,-15.38,-99.65:99 -chr1 2784009 rs6673503 T C 0.75 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=15.72;MQ=55.44;MQ0=0;OQ=828.36;QD=14.04;SB=-284.66 GT:AD:DP:GL:GQ 0/1:19,40:49:-100.91,-14.79,-59.84:99 -chr1 2784113 rs6658584 G A 324.36 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.61;MQ0=0;OQ=573.55;QD=11.95;SB=-252.51 GT:AD:DP:GL:GQ 0/1:29,19:42:-73.29,-12.65,-86.05:99 -chr1 2784397 rs6668620 C T 83.28 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=58.97;MQ0=0;OQ=989.63;QD=21.99;SB=-434.99 GT:AD:DP:GL:GQ 0/1:12,32:41:-114.60,-12.35,-43.77:99 -chr1 2784411 rs10909793 G T 285.59 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.95;MQ0=0;OQ=987.49;QD=22.44;SB=-485.97 GT:AD:DP:GL:GQ 0/1:11,33:43:-114.99,-12.95,-39.80:99 -chr1 2785397 rs6679954 T C 177.95 PASS AC=1;AF=0.50;AN=2;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=57.39;MQ0=0;OQ=162.89;QD=9.05;SB=-99.99 GT:AD:DP:GL:GQ 0/1:9,8:15:-24.09,-4.52,-32.21:99 -chr1 2785861 rs10797340 G C 110.31 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=0.97;MQ=60.00;MQ0=0;OQ=2067.39;QD=39.01;SB=-1035.13 GT:AD:DP:GL:GQ 1/1:0,53:49:-210.35,-14.77,-0.02:99 -chr1 2786415 rs10752722 A G 154.88 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=59.07;MQ0=0;OQ=1517.85;QD=30.36;SB=-724.72 GT:AD:DP:GL:GQ 1/1:0,50:49:-155.42,-14.78,-0.05:99 -chr1 2786479 rs4648406 T C 92.49 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.34;MQ0=0;OQ=883.04;QD=25.23;SB=-376.38 GT:AD:DP:GL:GQ 1/1:0,35:29:-91.92,-8.75,-0.03:87.18 -chr1 2787126 rs6424057 T G 92.26 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=59.46;MQ0=0;OQ=1311.97;QD=30.51;SB=-464.84 GT:AD:DP:GL:GQ 1/1:0,43:41:-134.82,-12.36,-0.04:99 -chr1 2787716 rs10797342 C T 575.89 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=717.10;QD=14.63;SB=-344.49 GT:AD:DP:GL:GQ 0/1:27,22:49:-89.77,-14.77,-84.62:99 -chr1 2788065 rs2124662 G C 9.64 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=5.21;MQ=57.80;MQ0=0;OQ=437.50;QD=13.67;SB=-215.17 GT:AD:DP:GL:GQ 0/1:15,17:26:-54.88,-7.85,-48.57:99 -chr1 2788136 rs1563472 G A 261.94 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=59.38;MQ0=0;OQ=469.47;QD=12.69;SB=-131.12 GT:AD:DP:GL:GQ 0/1:19,18:28:-58.68,-8.45,-41.51:99 -chr1 2788195 rs1563473 T G 178.79 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=57.45;MQ0=0;OQ=577.74;QD=12.56;SB=-216.84 GT:AD:DP:GL:GQ 0/1:19,27:43:-74.02,-12.96,-66.19:99 -chr1 2788317 rs1563474 G A 94.33 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=3.84;MQ=58.45;MQ0=0;OQ=661.75;QD=14.71;SB=-298.81 GT:AD:DP:GL:GQ 0/1:21,24:41:-81.83,-12.37,-60.24:99 -chr1 2788572 rs4373707 T C 44.63 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=5.22;MQ=58.97;MQ0=0;OQ=526.05;QD=11.69;SB=-185.63 GT:AD:DP:GL:GQ 0/1:22,23:42:-68.55,-12.66,-84.21:99 -chr1 2788907 rs2377038 A G 118.41 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=3.81;MQ=59.09;MQ0=0;OQ=482.56;QD=10.49;SB=-194.43 GT:AD:DP:GL:GQ 0/1:24,21:41:-63.90,-12.36,-79.61:99 -chr1 2789039 rs729965 G C 149.04 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=2442.19;QD=42.11;SB=-956.71 GT:AD:DP:GL:GQ 1/1:0,58:57:-247.82,-17.18,-0.02:99 -chr1 2789321 rs897629 T C 12.44 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=3.68;MQ=58.87;MQ0=0;OQ=1220.90;QD=29.78;SB=-560.89 GT:AD:DP:GL:GQ 1/1:0,40:39:-125.71,-11.76,-0.03:99 -chr1 2789340 rs11580768 C T 285.25 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.21;MQ=58.92;MQ0=0;OQ=699.84;QD=16.28;SB=-316.84 GT:AD:DP:GL:GQ 0/1:20,23:40:-85.33,-12.06,-59.14:99 -chr1 2789623 rs729419 G T 32.76 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=4.03;MQ=56.89;MQ0=0;OQ=1157.82;QD=30.47;SB=-604.54 GT:AD:DP:GL:GQ 1/1:0,38:33:-119.38,-9.94,-0.01:99 -chr1 2789978 rs4233022 T C 8.90 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=58.32;MQ0=0;OQ=1306.00;QD=33.49;SB=-393.50 GT:AD:DP:GL:GQ 1/1:0,38:38:-137.49,-14.36,-3.31:99 -chr1 2790214 rs61763695 G T 159.83 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=59.41;MQ0=0;OQ=678.47;QD=17.40;SB=-357.12 GT:AD:DP:GL:GQ 0/1:15,24:37:-82.28,-11.15,-45.69:99 -chr1 2790614 rs2061229 A G 424.36 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.99;MQ0=0;OQ=1321.60;QD=28.73;SB=-492.17 GT:AD:DP:GL:GQ 1/1:0,46:43:-135.79,-12.97,-0.04:99 -chr1 2791688 rs4648429 A G 0.41 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.02;HRun=3;HaplotypeScore=3.60;MQ=59.05;MQ0=0;OQ=1300.58;QD=29.56;SB=-615.14 GT:AD:DP:GL:GQ 1/1:0,43:39:-133.67,-11.76,-0.03:99 -chr1 2791895 rs10737188 A G 0.06 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=3;HaplotypeScore=11.58;MQ=57.39;MQ0=0;OQ=1158.45;QD=32.18;SB=-423.17 GT:AD:DP:GL:GQ 1/1:0,36:33:-119.44,-9.94,-0.01:99 -chr1 2791912 rs12127835 C T 0.23 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=15.40;MQ=57.73;MQ0=0;OQ=440.23;QD=14.20;SB=-189.24 GT:AD:DP:GL:GQ 0/1:15,16:28:-55.74,-8.44,-48.73:99 -chr1 2791917 rs12124890 G A 0.74 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=10.20;MQ=56.96;MQ0=0;OQ=462.23;QD=14.91;SB=-204.21 GT:AD:DP:GL:GQ 0/1:14,16:28:-57.95,-8.44,-40.79:99 -chr1 2792072 rs10752725 T C 491.80 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.34;MQ0=0;OQ=1748.59;QD=30.68;SB=-570.96 GT:AD:DP:GL:GQ 1/1:0,57:55:-178.49,-16.59,-0.05:99 -chr1 2792208 rs7552943 A G 158.94 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=59.00;MQ0=0;OQ=672.02;QD=16.00;SB=-219.52 GT:AD:DP:GL:GQ 0/1:13,29:36:-81.33,-10.85,-44.36:99 -chr1 2792422 . G A 42.68 PASS AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=59.28;MQ0=0;OQ=1176.82;QD=18.39;SB=-377.70 GT:AD:DP:GL:GQ 0/1:28,36:64:-140.25,-19.29,-99.03:99 -chr1 2793407 rs3001793 G A 9.14 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=1.66;MQ=57.81;MQ0=0;OQ=925.83;QD=30.86;SB=-281.35 GT:AD:DP:GL:GQ 1/1:0,30:25:-96.18,-7.54,-0.02:75.22 -chr1 2793666 rs2377039 C T 77.79 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=60.00;MQ0=0;OQ=452.51;QD=18.10;SB=-252.58 GT:AD:DP:GL:GQ 0/1:10,15:20:-54.56,-6.03,-20.77:99 -chr1 2794138 rs3001794 C G 65.67 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=60.00;MQ0=0;OQ=352.40;QD=13.05;SB=-39.43 GT:AD:DP:GL:GQ 0/1:15,12:26:-46.37,-7.84,-60.81:99 -chr1 2800878 rs2842928 T C 235.55 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=901.11;QD=33.37;SB=-249.77 GT:AD:DP:GL:GQ 1/1:0,27:26:-93.71,-7.83,-0.01:78.23 -chr1 2802104 rs10909834 G C 0.87 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=3;HaplotypeScore=3.91;MQ=59.36;MQ0=0;OQ=721.69;QD=20.05;SB=-360.48 GT:AD:DP:GL:GQ 0/1:15,21:32:-85.11,-9.65,-46.55:99 -chr1 2803334 rs10909835 C A 282.86 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.29;MQ0=0;OQ=1113.78;QD=16.14;SB=-524.88 GT:AD:DP:GL:GQ 0/1:32,37:69:-135.44,-20.78,-115.35:99 -chr1 2809215 . C A 24.19 LowQual AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.13;MQ=33.87;MQ0=3;QD=0.67;SB=-3.99 GT:AD:DP:GL:GQ 0/1:32,3:16:-10.52,-4.82,-48.73:57.01 -chr1 2812608 rs12091184 T C 225.17 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=59.35;MQ0=0;OQ=707.81;QD=11.06;SB=-307.08 GT:AD:DP:GL:GQ 0/1:33,31:62:-92.76,-18.69,-131.04:99 -chr1 2813319 rs12035436 G T 336.68 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.54;MQ0=0;OQ=779.74;QD=15.59;SB=-317.29 GT:AD:DP:GL:GQ 0/1:23,27:47:-95.42,-14.16,-69.60:99 -chr1 2815014 rs880724 C T 302.73 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.57;MQ0=0;OQ=894.47;QD=16.56;SB=-357.16 GT:AD:DP:GL:GQ 0/1:25,29:52:-108.41,-15.68,-73.43:99 -chr1 2816229 rs34114281 G A 56.60 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=59.49;MQ0=0;OQ=818.99;QD=18.20;SB=-240.71 GT:AD:DP:GL:GQ 0/1:20,25:44:-98.44,-13.25,-71.30:99 -chr1 2816447 rs12738063 G A 183.56 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=60.00;MQ0=0;OQ=436.36;QD=11.79;SB=-199.90 GT:AD:DP:GL:GQ 0/1:21,16:33:-56.87,-9.95,-58.54:99 -chr1 2819411 rs1869970 A G 323.79 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=58.68;MQ0=0;OQ=562.16;QD=12.22;SB=-263.95 GT:AD:DP:GL:GQ 0/1:23,23:46:-73.37,-13.87,-93.65:99 -chr1 2819722 rs10797359 G A 80.30 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=0.47;MQ=58.97;MQ0=0;OQ=661.62;QD=14.70;SB=-329.32 GT:AD:DP:GL:GQ 0/1:24,21:45:-83.00,-13.56,-85.88:99 -chr1 2819782 rs10797360 T C 62.98 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=58.11;MQ0=0;OQ=276.31;QD=7.47;SB=-143.57 GT:AD:DP:GL:GQ 0/1:22,15:35:-41.46,-10.55,-86.74:99 -chr1 2821229 rs2606408 T C 106.74 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=3.39;MQ=59.56;MQ0=0;OQ=598.54;QD=11.51;SB=-201.20 GT:AD:DP:GL:GQ 0/1:29,23:50:-78.20,-15.07,-111.31:99 -chr1 2821448 rs1563475 G T 119.77 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=60.00;MQ0=0;OQ=513.38;QD=12.83;SB=-112.67 GT:AD:DP:GL:GQ 0/1:19,21:38:-66.07,-11.45,-67.04:99 -chr1 2821650 rs11590100 A G 136.28 PASS AC=1;AF=0.50;AN=2;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=59.60;MQ0=0;OQ=943.28;QD=10.14;SB=-480.61 GT:AD:DP:GL:GQ 0/1:51,42:88:-124.13,-26.52,-198.52:99 -chr1 2822111 rs3001796 T C 212.38 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.85;MQ=55.14;MQ0=0;OQ=802.13;QD=11.80;SB=-349.06 GT:AD:DP:GL:GQ 0/1:33,34:64:-102.79,-19.29,-127.57:99 -chr1 2822273 rs3001797 G A 0.27 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=14.80;MQ=58.82;MQ0=1;OQ=1009.61;QD=19.42;SB=-317.35 GT:AD:DP:GL:GQ 0/1:22,30:49:-119.01,-14.77,-60.02:99 -chr1 2822628 rs6696129 C T 18.64 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=6.89;MQ=57.91;MQ0=1;OQ=832.22;QD=14.35;SB=-326.29 GT:AD:DP:GL:GQ 0/1:32,26:55:-103.07,-16.57,-105.26:99 -chr1 2823020 rs1869971 C T 374.03 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=57.94;MQ0=0;OQ=535.79;QD=14.48;SB=-291.84 GT:AD:DP:GL:GQ 0/1:19,18:35:-67.42,-10.56,-54.80:99 -chr1 2823154 rs7339944 G A 129.22 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=59.45;MQ0=0;OQ=957.99;QD=19.16;SB=-392.16 GT:AD:DP:GL:GQ 0/1:19,31:48:-113.55,-14.46,-66.11:99 -chr1 2823192 rs7340016 A G 29.60 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=3.35;MQ=59.34;MQ0=0;OQ=422.29;QD=10.05;SB=-179.53 GT:AD:DP:GL:GQ 0/1:21,21:36:-56.37,-10.85,-73.83:99 -chr1 2823287 rs2124663 C T 42.06 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.08;MQ=59.59;MQ0=0;OQ=634.70;QD=14.10;SB=-71.85 GT:AD:DP:GL:GQ 0/1:24,21:45:-80.32,-13.56,-82.96:99 -chr1 2823310 rs1563466 T C 23.75 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.63;MQ=58.92;MQ0=0;OQ=514.85;QD=13.20;SB=-114.69 GT:AD:DP:GL:GQ 0/1:19,20:38:-66.22,-11.45,-76.59:99 -chr1 2823513 rs11587665 C T 40.96 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=6.13;MQ=59.14;MQ0=0;OQ=737.31;QD=13.65;SB=-373.35 GT:AD:DP:GL:GQ 0/1:29,25:51:-92.39,-15.38,-90.11:99 -chr1 2823603 rs1563468 T C 458.79 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.00;MQ0=0;OQ=947.27;QD=14.14;SB=-372.60 GT:AD:DP:GL:GQ 0/1:28,39:64:-117.31,-19.30,-107.37:99 -chr1 2823870 rs11809099 C T 295.64 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.56;MQ0=0;OQ=690.45;QD=13.28;SB=-256.23 GT:AD:DP:GL:GQ 0/1:28,23:49:-87.09,-14.76,-98.54:99 -chr1 2823885 rs2842926 G A 181.65 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=59.53;MQ0=0;OQ=786.09;QD=16.04;SB=-320.86 GT:AD:DP:GL:GQ 0/1:23,26:46:-95.76,-13.86,-71.19:99 -chr1 2825347 rs897633 A C 527.30 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=683.77;QD=14.86;SB=-280.84 GT:AD:DP:GL:GQ 0/1:21,25:45:-85.22,-13.56,-75.45:99 -chr1 2825552 rs897634 T C 95.40 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=1172.99;QD=30.08;SB=-560.88 GT:AD:DP:GL:GQ 1/1:0,39:37:-120.91,-11.16,-0.03:99 -chr1 2825769 rs2606409 A G 32.95 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=5.74;MQ=57.77;MQ0=0;OQ=329.46;QD=7.84;SB=-164.95 GT:AD:DP:GL:GQ 0/1:25,16:40:-48.29,-12.06,-98.69:99 -chr1 2825959 rs2606410 C T 311.17 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.19;MQ=59.57;MQ0=0;OQ=951.03;QD=17.61;SB=-434.47 GT:AD:DP:GL:GQ 0/1:25,29:51:-113.75,-15.36,-82.67:99 -chr1 2827304 rs55855166 G A 337.28 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.37;MQ0=0;OQ=391.24;QD=9.10;SB=-201.88 GT:AD:DP:GL:GQ 0/1:27,16:41:-54.76,-12.35,-93.92:99 -chr1 2828084 rs35844499 A C 0.13 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=8.95;MQ=33.58;MQ0=13;OQ=215.00;QD=4.89;SB=-66.98 GT:AD:DP:GL:GQ 0/1:23,20:16:-29.61,-4.82,-23.59:99 -chr1 2831038 . C T 212.41 PASS AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.03;MQ0=0;OQ=614.63;QD=14.29;SB=-239.55 GT:AD:DP:GL:GQ 0/1:23,20:43:-77.70,-12.96,-79.28:99 -chr1 2833249 . C T 39.44 LowQual AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=0;HaplotypeScore=2.90;MQ=56.74;MQ0=0;QD=1.36;SB=-41.03 GT:AD:DP:GL:GQ 0/1:24,4:19:-12.96,-5.74,-47.17:72.28 -chr1 2833472 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=11.49;MQ=58.05;MQ0=0;OQ=54.69;QD=1.52;SB=-45.69 GT:AD:DP:GL:GQ 0/1:28,8:19:-14.49,-5.74,-59.79:87.52 -chr1 2837348 rs2606411 T C 351.83 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.95;MQ0=0;OQ=583.14;QD=14.58;SB=-128.66 GT:AD:DP:GL:GQ 0/1:14,26:36:-72.45,-10.85,-55.84:99 -chr1 2838116 rs35880479 G A 202.84 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=58.64;MQ0=0;OQ=848.27;QD=13.05;SB=-379.33 GT:AD:DP:GL:GQ 0/1:37,28:62:-106.79,-18.68,-116.44:99 -chr1 2844321 rs12120163 C T 361.45 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.44;MQ0=0;OQ=1226.99;QD=16.58;SB=-528.52 GT:AD:DP:GL:GQ 0/1:36,38:72:-147.69,-21.70,-111.75:99 -chr1 2849584 rs2842909 C T 85.45 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=5.45;MQ=57.20;MQ0=0;OQ=445.80;QD=10.87;SB=-188.84 GT:AD:DP:GL:GQ 0/1:22,19:36:-58.71,-10.85,-74.85:99 -chr1 2850791 rs2925499 C T 367.47 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=59.73;MQ0=0;OQ=1163.55;QD=17.11;SB=-509.17 GT:AD:DP:GL:GQ 0/1:33,35:67:-139.83,-20.19,-105.50:99 -chr1 2856184 . C T 37.47 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=14.17;MQ0=11;QD=1.63;SB=-10.00 GT:AD:DP:GL:GQ 0/1:13,10:4:-8.24,-1.21,-6.09:48.87 -chr1 2856380 rs3010827 T C 18.54 LowQual AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=21.91;MQ0=3;QD=0.66;SB=-6.99 GT:AD:DP:GL:GQ 0/1:20,8:5:-6.64,-1.51,-11.98:51.31 -chr1 2865080 rs2788089 G A 618.40 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2745.57;QD=39.79;SB=-1234.70 GT:AD:DP:GL:GQ 1/1:0,69:69:-278.16,-20.78,-0.02:99 -chr1 2866385 rs10909845 T C 68.38 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=1.49;MQ=58.86;MQ0=0;OQ=1786.40;QD=31.34;SB=-680.16 GT:AD:DP:GL:GQ 1/1:0,57:53:-182.25,-15.97,-0.03:99 -chr1 2866462 rs6663830 A G 10.39 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.42;MQ=57.19;MQ0=0;OQ=455.20;QD=23.96;SB=-149.73 GT:AD:DP:GL:GQ 1/1:1,18:16:-49.13,-4.83,-0.02:48.09 -chr1 2866480 rs12132266 C G 0.75 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.00;HRun=2;HaplotypeScore=2.31;MQ=54.22;MQ0=2;OQ=483.83;QD=32.26;SB=-138.40 GT:AD:DP:GL:GQ 1/1:2,13:12:-51.97,-3.62,-0.01:36.12 -chr1 2866511 rs12129394 G A 181.92 PASS AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=50.76;MQ0=0;OQ=82.01;QD=27.34;SB=-47.56 GT:AD:DP:GL:GQ 1/1:0,3:3:-11.69,-0.90,-0.00:9.03 -chr1 2866552 rs11582761 G A 15.30 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=47.10;MQ0=0;OQ=87.13;QD=17.43;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,4:3:-12.20,-0.90,-0.00:9.03 -chr1 2868226 rs11583804 G A 591.81 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.37;MQ0=0;OQ=1019.85;QD=15.45;SB=-422.44 GT:AD:DP:GL:GQ 0/1:35,31:65:-124.85,-19.58,-125.50:99 -chr1 2872997 rs10909848 G T 338.03 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=59.67;MQ0=0;OQ=904.50;QD=15.87;SB=-468.05 GT:AD:DP:GL:GQ 0/1:25,32:54:-110.00,-16.27,-78.02:99 -chr1 2873890 . G C 11.21 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=4;HaplotypeScore=5.27;MQ=55.45;MQ0=0;QD=0.59;SB=14.08 GT:AD:DP:GL:GQ 0/1:10,9:11:-7.69,-3.32,-38.19:43.71 -chr1 2874116 rs2993507 T C 16.38 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=3;HaplotypeScore=1.05;MQ=58.76;MQ0=0;OQ=1405.38;QD=31.23;SB=-680.25 GT:AD:DP:GL:GQ 1/1:0,45:40:-144.14,-12.05,-0.01:99 -chr1 2876216 rs2842925 A G 411.29 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.51;MQ0=0;OQ=1144.93;QD=30.13;SB=-502.20 GT:AD:DP:GL:GQ 1/1:0,38:36:-118.11,-10.86,-0.03:99 -chr1 2876326 rs12752801 C T 372.85 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=59.51;MQ0=0;OQ=555.75;QD=11.82;SB=-279.71 GT:AD:DP:GL:GQ 0/1:29,18:46:-72.72,-13.86,-94.69:99 -chr1 2876664 rs1104934 C T 153.01 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.11;MQ0=0;OQ=873.37;QD=18.58;SB=-376.40 GT:AD:DP:GL:GQ 0/1:19,28:45:-104.19,-13.57,-58.40:99 -chr1 2876848 rs4072769 G A 397.29 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.29;MQ0=0;OQ=569.53;QD=13.56;SB=-264.25 GT:AD:DP:GL:GQ 0/1:22,20:41:-72.60,-12.36,-71.89:99 -chr1 2877278 rs12731895 T A 88.65 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.47;MQ0=0;OQ=1142.36;QD=32.64;SB=-433.66 GT:AD:DP:GL:GQ 1/1:0,35:33:-117.84,-9.95,-0.02:99 -chr1 2877329 rs12727338 A G 1.05 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=6.87;MQ=57.26;MQ0=0;OQ=1138.52;QD=25.30;SB=-341.40 GT:AD:DP:GL:GQ 1/1:0,45:36:-117.47,-10.86,-0.03:99 -chr1 2877535 rs4648443 G C 93.54 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=59.43;MQ0=0;OQ=1023.89;QD=31.03;SB=-246.78 GT:AD:DP:GL:GQ 1/1:0,33:28:-106.01,-8.47,-0.04:84.26 -chr1 2878321 rs10797371 T C 561.61 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.52;MQ0=0;OQ=1137.37;QD=29.16;SB=-576.99 GT:AD:DP:GL:GQ 1/1:0,39:37:-117.36,-11.16,-0.04:99 -chr1 2878374 rs10797372 A G 151.87 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=58.80;MQ0=0;OQ=958.51;QD=27.39;SB=-485.14 GT:AD:DP:GL:GQ 1/1:0,35:31:-99.47,-9.35,-0.03:93.21 -chr1 2878478 rs57027760 G T 756.85 Indel AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=16.93;MQ=60.84;MQ0=0;QD=20.46;SB=-136.60 GT:AD:DP:GL:GQ 0/1:7,30:29:-87.69,-8.74,-9.78:10.36 -chr1 2879008 rs56619891 G A 46.74 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=58.68;MQ0=0;OQ=1774.48;QD=38.58;SB=-601.31 GT:AD:DP:GL:GQ 1/1:0,46:45:-181.04,-13.56,-0.01:99 -chr1 2879409 rs2495273 T A 230.62 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=58.81;MQ0=0;OQ=1962.54;QD=35.68;SB=-1002.53 GT:AD:DP:GL:GQ 1/1:0,55:54:-199.86,-16.27,-0.02:99 -chr1 2879437 rs12044030 C T 157.06 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=1.24;MQ=58.72;MQ0=0;OQ=1987.31;QD=38.97;SB=-989.84 GT:AD:DP:GL:GQ 1/1:0,51:51:-202.33,-15.37,-0.02:99 -chr1 2880205 rs4648445 G A 0.49 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=7.53;MQ=59.36;MQ0=0;OQ=1380.04;QD=38.33;SB=-528.20 GT:AD:DP:GL:GQ 1/1:1,35:35:-141.60,-10.54,-0.01:99 -chr1 2880574 rs4648446 C T 93.96 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=58.80;MQ0=0;OQ=2154.57;QD=37.15;SB=-942.74 GT:AD:DP:GL:GQ 1/1:0,58:56:-219.07,-16.88,-0.03:99 -chr1 2880814 rs35060945 G T 115.68 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=59.36;MQ0=0;OQ=1511.10;QD=32.85;SB=-647.26 GT:AD:DP:GL:GQ 1/1:0,46:43:-154.71,-12.95,-0.02:99 -chr1 2880975 rs9661752 C T 171.39 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.26;MQ=57.35;MQ0=0;OQ=1967.63;QD=36.44;SB=-881.18 GT:AD:DP:GL:GQ 1/1:0,54:51:-200.37,-15.37,-0.02:99 -chr1 2880988 rs35377179 C A 115.57 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=57.03;MQ0=0;OQ=1298.02;QD=29.50;SB=-650.95 GT:AD:DP:GL:GQ 1/1:1,43:37:-133.40,-11.15,-0.01:99 -chr1 2881030 . C A 0.40 PASS AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=1;HaplotypeScore=3.41;MQ=54.52;MQ0=1;OQ=214.49;QD=8.25;SB=26.09 GT:AD:DP:GL:GQ 0/1:17,8:22:-34.34,-9.60,-47.09:99 -chr1 2881446 rs12046122 C A 164.77 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=56.73;MQ0=0;OQ=1555.86;QD=34.57;SB=-803.87 GT:AD:DP:GL:GQ 1/1:0,45:44:-159.18,-13.25,-0.01:99 -chr1 2881573 rs12046158 C T 78.52 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=60.00;MQ0=0;OQ=1075.02;QD=38.39;SB=-495.01 GT:AD:DP:GL:GQ 1/1:0,28:28:-111.09,-8.43,-0.01:84.27 -chr1 2882784 rs12096719 A G 679.62 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=51.77;MQ0=0;OQ=1529.67;QD=33.99;SB=-756.19 GT:AD:DP:GL:GQ 1/1:0,45:44:-156.57,-13.25,-0.01:99 -chr1 2883117 rs34709641 C A 0.13 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=10.20;MQ=27.00;MQ0=0;OQ=541.23;QD=24.60;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,21:16:-57.72,-4.82,-0.01:48.13 -chr1 2883336 . T C 0.07 PASS AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=0;HaplotypeScore=2.02;MQ=28.41;MQ0=1;OQ=55.83;QD=2.15;SB=35.13 GT:AD:DP:GL:GQ 0/1:19,7:19:-14.60,-5.73,-55.04:88.67 -chr1 2883474 . C T 16.42 PASS AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;HRun=1;HaplotypeScore=1.15;MQ=19.09;MQ0=3;OQ=91.28;QD=9.13;SB=-10.00 GT:AD:DP:GL:GQ 1/1:6,3:4:-15.26,-3.77,-2.60:11.70 -chr1 2883529 . A G 32.82 LowQual AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=16.58;MQ0=2;QD=4.69;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,7:2:-6.69,-0.60,-0.00:6.01 -chr1 2883801 . G C 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=34.13;MQ0=1;OQ=549.05;QD=22.88;SB=-205.68 GT:AD:DP:GL:GQ 0/1:3,21:17:-63.31,-5.13,-9.19:40.68 -chr1 2883821 . C G 1.10 PASS AC=1;AF=0.50;AN=2;DP=22;Dels=0.00;HRun=0;HaplotypeScore=5.35;MQ=22.36;MQ0=5;OQ=186.32;QD=8.47;SB=-39.88 GT:AD:DP:GL:GQ 0/1:7,15:10:-24.93,-3.02,-15.34:99 -chr1 2883940 . C G 0.08 PASS AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=7.32;MQ=24.85;MQ0=3;OQ=119.37;QD=7.02;SB=-3.99 GT:AD:DP:GL:GQ 0/1:4,13:7:-17.34,-2.12,-7.20:50.86 -chr1 2883991 . G A 9.80 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=39.91;MQ0=4;OQ=393.88;QD=7.16;SB=-196.17 GT:AD:DP:GL:GQ 0/1:36,19:38:-54.13,-11.46,-77.08:99 -chr1 2884111 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=2;HaplotypeScore=5.45;MQ=48.57;MQ0=0;OQ=67.53;QD=1.73;SB=-58.84 GT:AD:DP:GL:GQ 0/1:29,10:26:-17.87,-7.84,-79.49:99 -chr1 2884204 . C G 13.82 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=48;Dels=0.02;HRun=0;HaplotypeScore=10.52;MQ=37.87;MQ0=5;QD=0.29;SB=17.09 GT:AD:DP:GL:GQ 0/1:44,3:31:-13.69,-9.05,-110.48:46.47 -chr1 2884224 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=7.14;MQ=33.65;MQ0=6;OQ=99.62;QD=2.69;SB=-73.89 GT:AD:DP:GL:GQ 0/1:22,14:21:-19.58,-6.34,-62.85:99 -chr1 2884275 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=8.64;MQ=43.29;MQ0=0;OQ=54.38;QD=1.36;SB=23.10 GT:AD:DP:GL:GQ 0/1:34,6:34:-18.98,-10.26,-119.97:87.22 -chr1 2884325 . G C 41.80 PASS AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=49.14;MQ0=0;OQ=1253.36;QD=33.87;SB=-646.42 GT:AD:DP:GL:GQ 1/1:0,37:34:-128.97,-10.28,-0.05:99 -chr1 2885060 rs63721360 G T 452.04 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.39;MQ0=0;OQ=1106.85;QD=29.13;SB=-549.16 GT:AD:DP:GL:GQ 1/1:0,38:32:-114.28,-9.64,-0.01:96.27 -chr1 2885413 rs34183832 C T 53.59 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=60.00;MQ0=0;OQ=1297.32;QD=37.07;SB=-499.18 GT:AD:DP:GL:GQ 1/1:0,35:34:-133.33,-10.25,-0.01:99 -chr1 2885666 rs12746525 C T 345.32 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.87;MQ0=0;OQ=771.21;QD=35.05;SB=-307.40 GT:AD:DP:GL:GQ 1/1:0,22:21:-80.72,-6.33,-0.01:63.20 -chr1 2885725 rs12731464 G A 43.96 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.35;MQ=59.36;MQ0=0;OQ=1296.44;QD=36.01;SB=-473.63 GT:AD:DP:GL:GQ 1/1:0,36:34:-133.24,-10.25,-0.01:99 -chr1 2885912 rs12746985 C T 116.03 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=59.54;MQ0=0;OQ=1570.34;QD=38.30;SB=-739.01 GT:AD:DP:GL:GQ 1/1:0,40:40:-160.63,-12.05,-0.01:99 -chr1 2886057 rs12747179 C G 228.04 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1558.47;QD=39.96;SB=-692.89 GT:AD:DP:GL:GQ 1/1:0,39:37:-159.45,-11.15,-0.01:99 -chr1 2886368 rs7519674 G T 104.99 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.51;MQ=58.92;MQ0=0;OQ=1251.61;QD=32.09;SB=-486.26 GT:AD:DP:GL:GQ 1/1:0,39:37:-128.76,-11.15,-0.02:99 -chr1 2886595 rs7533362 A G 145.09 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=59.61;MQ0=0;OQ=2108.67;QD=35.74;SB=-1026.73 GT:AD:DP:GL:GQ 1/1:0,59:59:-214.47,-17.77,-0.02:99 -chr1 2886944 rs10909849 A G 437.20 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.80;MQ0=0;OQ=1258.82;QD=27.97;SB=-649.76 GT:AD:DP:GL:GQ 1/1:0,45:41:-129.52,-12.37,-0.05:99 -chr1 2886953 rs2788088 G A 571.84 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.80;MQ0=0;OQ=615.00;QD=13.67;SB=-320.48 GT:AD:DP:GL:GQ 0/1:23,22:41:-77.15,-12.37,-67.43:99 -chr1 2887315 rs3001801 T C 293.49 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.55;MQ0=0;OQ=285.37;QD=12.41;SB=-113.63 GT:AD:DP:GL:GQ 0/1:11,12:22:-38.45,-6.63,-44.08:99 -chr1 2887325 rs2495272 A G 0.48 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.00;HRun=3;HaplotypeScore=1.25;MQ=56.85;MQ0=0;OQ=451.51;QD=25.08;SB=-251.59 GT:AD:DP:GL:GQ 1/1:0,18:15:-48.75,-4.52,-0.01:45.11 -chr1 2887439 . A G 0.37 PASS AC=1;AF=0.50;AN=2;DP=28;Dels=0.00;HRun=2;HaplotypeScore=3.88;MQ=55.21;MQ0=0;OQ=257.68;QD=9.20;SB=-92.00 GT:AD:DP:GL:GQ 0/1:17,11:26:-36.89,-7.84,-61.45:99 -chr1 2887454 . A G 0.28 PASS AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=2;HaplotypeScore=5.31;MQ=55.54;MQ0=0;OQ=380.48;QD=12.68;SB=-84.99 GT:AD:DP:GL:GQ 0/1:15,15:27:-49.47,-8.14,-52.46:99 -chr1 2887461 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=56.64;MQ0=0;OQ=82.14;QD=2.65;SB=-24.50 GT:AD:DP:GL:GQ 0/1:26,5:30:-20.54,-9.04,-87.21:99 -chr1 2887469 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=2;HaplotypeScore=10.99;MQ=56.64;MQ0=0;OQ=56.39;QD=1.82;SB=-10.59 GT:AD:DP:GL:GQ 0/1:26,5:30:-17.96,-9.04,-99.17:89.23 -chr1 2887476 rs61763639 G A 1.06 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=10.80;MQ=56.85;MQ0=0;OQ=400.87;QD=12.15;SB=-209.95 GT:AD:DP:GL:GQ 0/1:19,13:29:-55.44,-12.07,-58.42:99 -chr1 2887567 rs61763640 G C 352.27 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.34;MQ0=0;OQ=547.00;QD=15.63;SB=-239.40 GT:AD:DP:GL:GQ 0/1:19,16:35:-68.53,-10.55,-82.14:99 -chr1 2887764 rs35529252 C G 80.76 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=1.06;MQ=57.39;MQ0=0;OQ=226.67;QD=8.40;SB=2.03 GT:AD:DP:GL:GQ 0/1:18,9:23:-32.89,-6.94,-62.31:99 -chr1 2887828 rs56335850 C G 110.15 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=58.45;MQ0=0;OQ=748.06;QD=17.40;SB=-393.99 GT:AD:DP:GL:GQ 0/1:21,22:42:-90.75,-12.66,-91.15:99 -chr1 2888083 rs56195961 C T 7.84 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=2.95;MQ=60.00;MQ0=0;OQ=1112.19;QD=20.22;SB=-391.16 GT:AD:DP:GL:GQ 0/1:22,33:55:-131.08,-16.58,-71.48:99 -chr1 2888354 rs17391563 T C 531.46 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=612.67;QD=11.56;SB=-261.21 GT:AD:DP:GL:GQ 0/1:27,26:52:-80.22,-15.67,-108.53:99 -chr1 2888416 rs6681331 C T 397.61 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.65;MQ=59.62;MQ0=0;OQ=831.46;QD=13.63;SB=-416.81 GT:AD:DP:GL:GQ 0/1:34,27:59:-104.22,-17.79,-102.21:99 -chr1 2888820 rs6681741 C T 399.97 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=60.00;MQ0=0;OQ=909.46;QD=13.78;SB=-406.91 GT:AD:DP:GL:GQ 0/1:37,29:64:-113.53,-19.30,-110.49:99 -chr1 2889209 rs12043738 C T 43 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=2.99;MQ=59.70;MQ0=0;OQ=782.92;QD=12.63;SB=-392.82 GT:AD:DP:GL:GQ 0/1:36,26:56:-98.47,-16.89,-96.75:99 -chr1 2889348 rs12046140 T C 210.74 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.64;MQ=58.78;MQ0=0;OQ=758.51;QD=11.67;SB=-309.09 GT:AD:DP:GL:GQ 0/1:33,31:62:-97.83,-18.69,-124.67:99 -chr1 2891988 rs1572657 C T 224.13 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.84;MQ=58.69;MQ0=0;OQ=1966.14;QD=39.32;SB=-982.30 GT:AD:DP:GL:GQ 1/1:0,50:49:-200.21,-14.76,-0.01:99 -chr1 2893019 rs16823303 A G 473.80 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=60.00;MQ0=0;OQ=1016.72;QD=15.17;SB=-513.96 GT:AD:DP:GL:GQ 0/1:31,36:67:-125.14,-20.19,-125.83:99 -chr1 2893437 rs4350139 T C 494.03 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=627.58;QD=13.35;SB=-219.43 GT:AD:DP:GL:GQ 0/1:23,24:46:-79.90,-13.86,-93.15:99 -chr1 2893916 rs10797373 G A 257.26 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=2.18;MQ=59.61;MQ0=0;OQ=845.53;QD=14.33;SB=-302.29 GT:AD:DP:GL:GQ 0/1:31,28:56:-104.72,-16.88,-95.11:99 -chr1 2895465 rs10909852 T C 196.72 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=3.24;MQ=59.46;MQ0=0;OQ=1273.07;QD=16.32;SB=-516.27 GT:AD:DP:GL:GQ 0/1:36,42:76:-153.48,-22.89,-141.76:99 -chr1 2897295 rs7546695 C A 472.44 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=59.44;MQ0=0;OQ=1069.83;QD=15.97;SB=-543.65 GT:AD:DP:GL:GQ 0/1:30,37:66:-130.15,-19.88,-106.29:99 -chr1 2897527 rs12411019 T C 97.34 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.42;MQ0=0;OQ=164.92;QD=5.15;SB=-60.30 GT:AD:DP:GL:GQ 0/1:21,11:29:-28.52,-8.74,-78.99:99 -chr1 2897840 rs58882615 A T 78.36 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=58.81;MQ0=0;OQ=696.78;QD=12.67;SB=-96.85 GT:AD:DP:GL:GQ 0/1:28,27:52:-88.62,-15.66,-107.99:99 -chr1 2897930 rs10909854 A G 302.68 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=59.44;MQ0=0;OQ=922.43;QD=11.25;SB=-327.10 GT:AD:DP:GL:GQ 0/1:45,37:81:-119.94,-24.41,-179.92:99 -chr1 2898248 rs10909855 C T 438.64 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.39;MQ0=0;OQ=1131.76;QD=16.40;SB=-432.83 GT:AD:DP:GL:GQ 0/1:34,35:68:-136.95,-20.49,-112.64:99 -chr1 2898666 . G A 72.98 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=60.00;MQ0=0;OQ=1136.24;QD=18.33;SB=-578.42 GT:AD:DP:GL:GQ 0/1:27,35:58:-134.38,-17.48,-83.03:99 -chr1 2898708 rs56000855 G T 262.99 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=60.00;MQ0=0;OQ=393.56;QD=10.09;SB=-213.51 GT:AD:DP:GL:GQ 0/1:23,16:38:-54.09,-11.45,-79.61:99 -chr1 2899110 rs16823315 A G 251.56 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.58;MQ=58.82;MQ0=0;OQ=851.48;QD=14.43;SB=-403.32 GT:AD:DP:GL:GQ 0/1:28,31:58:-105.90,-17.47,-115.59:99 -chr1 2899231 rs17391750 G A 437.47 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.91;MQ0=0;OQ=1161.97;QD=13.51;SB=-467.04 GT:AD:DP:GL:GQ 0/1:50,36:85:-145.10,-25.62,-160.28:99 -chr1 2899576 rs4335321 A G 105.18 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=58.00;MQ0=0;OQ=946.55;QD=13.52;SB=-144.87 GT:AD:DP:GL:GQ 0/1:37,33:68:-118.42,-20.48,-143.93:99 -chr1 2899597 . A T 1.69 PASS AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=1;HaplotypeScore=3.60;MQ=57.30;MQ0=0;OQ=711.73;QD=11.67;SB=-108.79 GT:AD:DP:GL:GQ 0/1:34,27:58:-91.93,-17.47,-124.49:99 -chr1 2899698 . C A 3.06 PASS AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=964.27;QD=14.39;SB=-495.28 GT:AD:DP:GL:GQ 0/1:34,33:65:-119.29,-19.58,-112.82:99 -chr1 2899893 . T C 127.63 PASS AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.77;MQ=59.43;MQ0=0;OQ=700.47;QD=10.61;SB=-280.59 GT:AD:DP:GL:GQ 0/1:36,30:65:-92.92,-19.59,-144.88:99 -chr1 2900185 rs57720952 A G 235.22 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=59.13;MQ0=0;OQ=624.52;QD=11.78;SB=-194.60 GT:AD:DP:GL:GQ 0/1:27,26:53:-81.72,-15.98,-107.90:99 -chr1 2900204 rs58538272 A G 481.46 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.17;MQ0=0;OQ=755.97;QD=13.50;SB=-350.98 GT:AD:DP:GL:GQ 0/1:26,30:55:-95.46,-16.58,-99.09:99 -chr1 2900256 rs60017523 T C 269.60 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.45;MQ=59.37;MQ0=0;OQ=740.61;QD=11.22;SB=-378.62 GT:AD:DP:GL:GQ 0/1:33,33:62:-96.04,-18.69,-126.33:99 -chr1 2901217 rs58445466 T C 331.41 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=47.93;MQ0=0;OQ=860.37;QD=15.36;SB=-212.50 GT:AD:DP:GL:GQ 0/1:26,30:54:-105.58,-16.26,-101.98:99 -chr1 2901454 rs56337009 G A 18.57 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=49.33;MQ0=1;OQ=975.13;QD=34.83;SB=-240.32 GT:AD:DP:GL:GQ 1/1:2,26:25:-101.11,-7.53,-0.01:75.24 -chr1 2902060 rs12022594 C T 230.71 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=3.13;MQ=53.29;MQ0=0;OQ=1320.21;QD=14.67;SB=-682.37 GT:AD:DP:GL:GQ 0/1:48,42:84:-160.62,-25.31,-148.07:99 -chr1 2902087 rs12059864 C T 220.44 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=4.77;MQ=55.08;MQ0=0;OQ=1120.96;QD=14.95;SB=-477.46 GT:AD:DP:GL:GQ 0/1:41,34:69:-136.16,-20.78,-131.24:99 -chr1 2902707 rs10909856 T C 237.57 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=59.08;MQ0=0;OQ=1121.38;QD=13.04;SB=-473.58 GT:AD:DP:GL:GQ 0/1:47,39:85:-141.02,-25.60,-190.53:99 -chr1 2902862 rs12401989 C A 536.26 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=929.32;QD=11.47;SB=-426.42 GT:AD:DP:GL:GQ 0/1:49,32:81:-120.61,-24.40,-176.66:99 -chr1 2903095 rs60435231 A G 179.93 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=2.39;MQ=59.67;MQ0=0;OQ=920.63;QD=13.15;SB=-378.56 GT:AD:DP:GL:GQ 0/1:39,31:70:-116.43,-21.08,-161.00:99 -chr1 2903159 rs59407673 T C 419.08 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=752.64;QD=11.07;SB=-260.51 GT:AD:DP:GL:GQ 0/1:41,27:66:-98.43,-19.88,-155.58:99 -chr1 2903756 . C T 100.01 PASS AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=59.38;MQ0=0;OQ=1160.57;QD=15.47;SB=-488.46 GT:AD:DP:GL:GQ 0/1:41,34:75:-141.93,-22.59,-152.72:99 -chr1 2903757 . C T 97.23 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=59.38;MQ0=0;OQ=1040.83;QD=14.07;SB=-405.37 GT:AD:DP:GL:GQ 0/1:41,33:72:-129.05,-21.68,-151.62:99 -chr1 2903785 . C T 13.14 PASS AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=3;HaplotypeScore=0.97;MQ=59.68;MQ0=0;OQ=1201.38;QD=16.69;SB=-623.18 GT:AD:DP:GL:GQ 0/1:36,36:71:-144.81,-21.39,-125.25:99 -chr1 2904148 rs34909435 G C 261.36 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.06;MQ0=0;OQ=923.50;QD=16.20;SB=-375.83 GT:AD:DP:GL:GQ 0/1:30,27:56:-112.51,-16.88,-128.89:99 -chr1 2904478 rs34453862 G T 153.72 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=2.73;MQ=59.34;MQ0=0;OQ=843.87;QD=14.80;SB=-424.19 GT:AD:DP:GL:GQ 0/1:29,28:55:-104.24,-16.57,-85.73:99 -chr1 2904922 . G A 6.65 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=986.03;QD=18.26;SB=-298.76 GT:AD:DP:GL:GQ 0/1:24,30:53:-117.86,-15.97,-81.07:99 -chr1 2904988 . G T 192.75 PASS AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=59.69;MQ0=0;OQ=850.19;QD=14.17;SB=-430.19 GT:AD:DP:GL:GQ 0/1:30,30:56:-105.17,-16.87,-90.14:99 -chr1 2905123 rs12049173 C A 190.89 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.62;MQ0=0;OQ=810.47;QD=14.22;SB=-367.40 GT:AD:DP:GL:GQ 0/1:30,27:57:-101.50,-17.17,-107.52:99 -chr1 2905133 rs12046411 G A 347.03 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=60.57;MQ0=0;OQ=1037.17;QD=16.73;SB=-437.83 GT:AD:DP:GL:GQ 0/1:30,32:59:-124.78,-17.78,-92.83:99 -chr1 2905422 rs12049274 C T 603.53 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.95;MQ0=0;OQ=930.71;QD=16.05;SB=-490.47 GT:AD:DP:GL:GQ 0/1:30,28:58:-113.82,-17.47,-110.72:99 -chr1 2905744 . G A 180.07 PASS AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=873.90;QD=13.87;SB=-441.80 GT:AD:DP:GL:GQ 0/1:36,27:62:-109.35,-18.68,-126.71:99 -chr1 2905997 rs12239064 T G 232.27 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=1.56;MQ=59.60;MQ0=0;OQ=846.38;QD=14.85;SB=-338.82 GT:AD:DP:GL:GQ 0/1:27,30:56:-104.79,-16.87,-99.38:99 -chr1 2906020 rs12240128 G A 259.44 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.80;MQ=59.61;MQ0=0;OQ=950.01;QD=16.10;SB=-410.72 GT:AD:DP:GL:GQ 0/1:30,29:59:-116.06,-17.77,-109.83:99 -chr1 2906205 . C T 60.99 PASS AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=2.67;MQ=59.51;MQ0=0;OQ=509.22;QD=13.40;SB=-258.23 GT:AD:DP:GL:GQ 0/1:18,20:34:-64.46,-10.25,-58.74:99 -chr1 2906216 rs59653178 T C 119.56 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=2.26;MQ=59.54;MQ0=0;OQ=444.86;QD=10.85;SB=-210.25 GT:AD:DP:GL:GQ 0/1:22,19:37:-58.92,-11.15,-79.90:99 -chr1 2906318 . G C 294.79 PASS AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=687.54;QD=14.03;SB=-349.42 GT:AD:DP:GL:GQ 0/1:28,21:48:-86.50,-14.46,-122.06:99 -chr1 2906331 . T C 64.13 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=60.00;MQ0=0;OQ=486.38;QD=9.01;SB=-239.89 GT:AD:DP:GL:GQ 0/1:34,20:53:-67.89,-15.97,-133.79:99 -chr1 2906530 rs16823325 A G 170.42 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.48;MQ0=0;OQ=627.60;QD=14.26;SB=-219.26 GT:AD:DP:GL:GQ 0/1:22,22:44:-79.30,-13.26,-90.47:99 -chr1 2906541 rs57711454 A G 139.66 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=59.54;MQ0=0;OQ=394.78;QD=7.90;SB=-84.54 GT:AD:DP:GL:GQ 0/1:29,20:47:-56.93,-14.17,-116.48:99 -chr1 2906996 rs10909857 T C 66.55 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=3.62;MQ=57.79;MQ0=0;OQ=652.62;QD=12.31;SB=-287.16 GT:AD:DP:GL:GQ 0/1:27,26:51:-83.92,-15.38,-97.87:99 -chr1 2907051 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=17;HaplotypeScore=24.33;MQ=55.91;MQ0=0;OQ=72.31;QD=0.98;SB=54.68 GT:AD:DP:GL:GQ 0/1:56,17:51:-25.89,-15.37,-146.19:99 -chr1 2907237 rs12025260 T C 432.13 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=58.22;MQ0=0;OQ=586.66;QD=11.73;SB=-318.24 GT:AD:DP:GL:GQ 0/1:25,25:46:-75.82,-13.87,-89.45:99 -chr1 2907320 rs10797374 C G 183.78 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=56.79;MQ0=0;OQ=866.79;QD=16.35;SB=-401.99 GT:AD:DP:GL:GQ 0/1:26,27:47:-104.13,-14.17,-96.80:99 -chr1 2907323 rs10797375 C T 107.89 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=56.36;MQ0=0;OQ=897.14;QD=16.31;SB=-320.30 GT:AD:DP:GL:GQ 0/1:27,28:53:-108.97,-15.97,-91.39:99 -chr1 2907332 rs10797376 A G 569.46 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.97;MQ0=0;OQ=769.31;QD=13.26;SB=-314.20 GT:AD:DP:GL:GQ 0/1:28,30:54:-96.49,-16.28,-97.60:99 -chr1 2907425 rs17389607 C T 13.36 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=8.86;MQ=57.83;MQ0=0;OQ=822.69;QD=15.82;SB=-373.37 GT:AD:DP:GL:GQ 0/1:24,28:48:-100.02,-14.47,-70.94:99 -chr1 2907558 rs10909859 C T 467.69 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.58;MQ0=0;OQ=759.55;QD=17.26;SB=-317.87 GT:AD:DP:GL:GQ 0/1:21,23:40:-91.30,-12.06,-54.32:99 -chr1 2907881 rs56008028 A G 101.20 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=60.00;MQ0=0;OQ=314.58;QD=9.83;SB=-73.78 GT:AD:DP:GL:GQ 0/1:16,16:27:-42.88,-8.14,-52.46:99 -chr1 2908045 rs12562237 C T 38.60 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=3.04;MQ=57.73;MQ0=0;OQ=402.69;QD=12.99;SB=-180.26 GT:AD:DP:GL:GQ 0/1:14,17:26:-51.39,-7.84,-42.83:99 -chr1 2908055 rs3924055 G A 76.12 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=1.58;MQ=57.57;MQ0=0;OQ=483.15;QD=16.66;SB=-242.76 GT:AD:DP:GL:GQ 0/1:13,16:26:-59.44,-7.84,-34.72:99 -chr1 2908089 rs16823330 C T 124.82 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.14;MQ0=0;OQ=508.46;QD=18.83;SB=-215.91 GT:AD:DP:GL:GQ 0/1:11,16:27:-62.27,-8.14,-34.10:99 -chr1 2908371 . G A 74.23 PASS AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.57;MQ0=0;OQ=788.94;QD=18.35;SB=-397.93 GT:AD:DP:GL:GQ 0/1:18,24:36:-93.03,-10.85,-43.26:99 -chr1 2908432 . T C 8.81 PASS AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=56.92;MQ0=0;OQ=358.32;QD=15.58;SB=-114.66 GT:AD:DP:GL:GQ 0/1:9,14:19:-44.84,-5.73,-23.69:99 -chr1 2908471 . G A 46.40 LowQual AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=4.79;MQ=51.77;MQ0=0;QD=1.93;SB=-32.97 GT:AD:DP:GL:GQ 0/1:20,4:22:-14.55,-6.63,-62.87:79.23 -chr1 2908486 . G A 26.78 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=9.20;MQ=53.95;MQ0=0;QD=1.12;SB=-23.58 GT:AD:DP:GL:GQ 0/1:21,3:20:-11.99,-6.02,-60.39:59.60 -chr1 2908487 . G A 23.81 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=9.20;MQ=53.95;MQ0=0;QD=0.99;SB=-23.59 GT:AD:DP:GL:GQ 0/1:21,3:20:-11.69,-6.03,-57.69:56.63 -chr1 2908489 rs7413322 A G 127.27 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=7.20;MQ=53.67;MQ0=0;QD=5.53;SB=-41.81 GT:AD:DP:GL:GQ 0/1:15,7:21:-22.34,-6.33,-53.28:99 -chr1 2908502 . G A 0.58 PASS AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=3.89;MQ=54.56;MQ0=0;OQ=132.59;QD=4.28;SB=-84.55 GT:AD:DP:GL:GQ 0/1:22,9:26:-24.37,-7.83,-71.82:99 -chr1 2908503 . G A 2.61 PASS AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=3.89;MQ=54.56;MQ0=0;OQ=189.68;QD=6.12;SB=-101.89 GT:AD:DP:GL:GQ 0/1:22,9:28:-30.69,-8.44,-70.32:99 -chr1 2908532 . T C 3.50 PASS AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=3.76;MQ=54.67;MQ0=0;OQ=250.55;QD=6.77;SB=-66.91 GT:AD:DP:GL:GQ 0/1:24,13:35:-38.89,-10.55,-92.28:99 -chr1 2908533 . G A 0.93 PASS AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=4.66;MQ=54.15;MQ0=0;OQ=217.08;QD=5.71;SB=-54.22 GT:AD:DP:GL:GQ 0/1:25,13:33:-34.93,-9.94,-84.25:99 -chr1 2908644 . G A 90.84 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=1;HaplotypeScore=1.24;MQ=55.47;MQ0=0;OQ=799.27;QD=15.67;SB=-377.10 GT:AD:DP:GL:GQ 0/1:25,26:51:-98.58,-15.37,-88.82:99 -chr1 2908650 . T C 65.40 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=55.56;MQ0=0;OQ=744.55;QD=14.32;SB=-322.26 GT:AD:DP:GL:GQ 0/1:26,26:52:-93.41,-15.67,-101.68:99 -chr1 2908671 . T C 96.67 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.84;MQ=55.57;MQ0=0;OQ=663.38;QD=13.01;SB=-328.92 GT:AD:DP:GL:GQ 0/1:26,25:50:-84.69,-15.07,-101.18:99 -chr1 2908691 rs7524813 A G 287.06 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=53.53;MQ0=0;OQ=655.21;QD=13.10;SB=-352.07 GT:AD:DP:GL:GQ 0/1:22,28:47:-82.98,-14.17,-84.04:99 -chr1 2908767 . C T 11.79 PASS AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=50.29;MQ0=0;OQ=630.57;QD=18.02;SB=-203.89 GT:AD:DP:GL:GQ 0/1:14,21:32:-75.99,-9.65,-40.87:99 -chr1 2908798 rs7520336 C T 363.17 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=53.82;MQ0=0;OQ=459.08;QD=13.12;SB=-219.69 GT:AD:DP:GL:GQ 0/1:20,15:31:-58.54,-9.34,-53.07:99 -chr1 2909329 rs6424067 A G 0.51 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=4;HaplotypeScore=3.24;MQ=54.59;MQ0=0;OQ=434.74;QD=9.88;SB=-243.29 GT:AD:DP:GL:GQ 0/1:26,18:41:-59.12,-12.36,-92.44:99 -chr1 2909490 rs12025062 C T 390.05 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=55.85;MQ0=0;OQ=616.92;QD=11.64;SB=-324.31 GT:AD:DP:GL:GQ 0/1:32,21:52:-80.64,-15.67,-112.78:99 -chr1 2909802 rs12022429 G A 318.87 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=1.56;MQ=60.00;MQ0=0;OQ=605.69;QD=12.36;SB=-271.15 GT:AD:DP:GL:GQ 0/1:27,22:47:-78.02,-14.16,-93.88:99 -chr1 2909879 rs12025167 C T 200.91 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=4.12;MQ=58.32;MQ0=0;OQ=594.51;QD=15.24;SB=-283.81 GT:AD:DP:GL:GQ 0/1:20,19:35:-73.29,-10.56,-48.45:99 -chr1 2909902 rs12022456 G A 164.15 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=4.51;MQ=58.51;MQ0=0;OQ=722.60;QD=16.42;SB=-335.48 GT:AD:DP:GL:GQ 0/1:20,24:41:-87.91,-12.37,-56.64:99 -chr1 2910018 rs16823332 C T 243.36 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=942.08;QD=19.23;SB=-418.46 GT:AD:DP:GL:GQ 0/1:20,28:45:-111.06,-13.56,-54.54:99 -chr1 2910291 rs12066017 A G 366.01 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=60.00;MQ0=0;OQ=575.67;QD=14.76;SB=-270.53 GT:AD:DP:GL:GQ 0/1:19,20:38:-72.30,-11.45,-69.20:99 -chr1 2911142 . G A 41.67 PASS AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=1;HaplotypeScore=2.51;MQ=59.36;MQ0=0;OQ=1099.50;QD=16.92;SB=-501.68 GT:AD:DP:GL:GQ 0/1:32,33:61:-131.61,-18.38,-102.89:99 -chr1 2911277 . C G 44.53 PASS AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=1.86;MQ=58.95;MQ0=0;OQ=436.44;QD=10.91;SB=-233.06 GT:AD:DP:GL:GQ 0/1:26,14:40:-58.99,-12.06,-109.38:99 -chr1 2911306 . G C 234.71 PASS AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.10;MQ0=0;OQ=519.44;QD=14.04;SB=-251.08 GT:AD:DP:GL:GQ 0/1:21,16:36:-66.08,-10.85,-90.14:99 -chr1 2911720 rs16823335 G A 261.73 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=2.20;MQ=59.20;MQ0=0;OQ=681.92;QD=11.76;SB=-297.82 GT:AD:DP:GL:GQ 0/1:33,24:53:-87.45,-15.98,-100.90:99 -chr1 2912187 rs12028094 C T 355.65 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.31;MQ0=0;OQ=839.47;QD=15.55;SB=-427.81 GT:AD:DP:GL:GQ 0/1:28,26:51:-102.60,-15.37,-81.01:99 -chr1 2912604 rs10797377 G A 324.39 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=2.07;MQ=59.31;MQ0=0;OQ=1121.19;QD=18.38;SB=-566.38 GT:AD:DP:GL:GQ 0/1:27,34:59:-133.18,-17.78,-89.26:99 -chr1 2913061 . G A 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=0;HaplotypeScore=14.44;MQ=58.67;MQ0=0;OQ=1557.84;QD=18.11;SB=-803.34 GT:AD:DP:GL:GQ 0/1:39,47:82:-183.77,-24.70,-131.16:99 -chr1 2913244 rs12063869 T A 356.59 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.21;MQ0=0;OQ=1259.24;QD=16.35;SB=-327.01 GT:AD:DP:GL:GQ 0/1:37,40:76:-152.10,-22.89,-141.13:99 -chr1 2913685 . T A 78.15 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=72;Dels=0.01;HRun=7;HaplotypeScore=10.99;MQ=58.04;MQ0=0;QD=1.09;SB=89.27 GT:AD:DP:GL:GQ 0/1:54,17:56:-27.67,-16.57,-168.58:99 -chr1 2914586 rs2889476 T C 86.82 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=2;HaplotypeScore=0.47;MQ=59.50;MQ0=0;OQ=1018.41;QD=13.58;SB=-348.57 GT:AD:DP:GL:GQ 0/1:38,37:73:-127.11,-21.99,-156.39:99 -chr1 2915216 . C A 133.06 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.57;MQ0=0;OQ=840.99;QD=15.57;SB=-328.03 GT:AD:DP:GL:GQ 0/1:26,28:54:-103.65,-16.27,-91.36:99 -chr1 2915282 rs946175 A G 382.87 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.34;MQ0=0;OQ=951.27;QD=13.59;SB=-404.30 GT:AD:DP:GL:GQ 0/1:37,33:69:-119.20,-20.78,-144.79:99 -chr1 2915357 rs946176 C T 193.41 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=2.81;MQ=60.00;MQ0=0;OQ=877.87;QD=15.14;SB=-352.31 GT:AD:DP:GL:GQ 0/1:30,28:58:-108.55,-17.48,-106.40:99 -chr1 2915382 rs946177 A G 311.86 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=60.00;MQ0=0;OQ=696.00;QD=12.21;SB=-254.19 GT:AD:DP:GL:GQ 0/1:29,28:55:-89.46,-16.58,-112.38:99 -chr1 2916239 rs2027262 T C 443.46 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=530.92;QD=9.65;SB=-168.92 GT:AD:DP:GL:GQ 0/1:28,27:51:-71.75,-15.38,-111.87:99 -chr1 2916397 rs2027263 A G 6.58 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=3;HaplotypeScore=4.33;MQ=58.92;MQ0=0;OQ=1007.60;QD=17.99;SB=-520.31 GT:AD:DP:GL:GQ 0/1:22,34:54:-120.31,-16.27,-82.47:99 -chr1 2916415 rs2027264 G A 412.83 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.63;MQ0=0;OQ=890.12;QD=17.45;SB=-464.45 GT:AD:DP:GL:GQ 0/1:23,27:49:-107.06,-14.77,-75.59:99 -chr1 2916645 . C T 34.34 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=56.98;MQ0=0;OQ=878.75;QD=16.90;SB=-242.23 GT:AD:DP:GL:GQ 0/1:24,28:50:-106.23,-15.07,-83.70:99 -chr1 2916833 rs11802804 T G 172.47 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=53.08;MQ0=1;OQ=929.71;QD=12.91;SB=-466.74 GT:AD:DP:GL:GQ 0/1:38,34:69:-117.04,-20.78,-128.73:99 -chr1 2916871 . T G 0.62 PASS AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=1;HaplotypeScore=5.93;MQ=46.04;MQ0=1;OQ=612.93;QD=10.57;SB=-101.87 GT:AD:DP:GL:GQ 0/1:33,25:54:-80.84,-16.27,-108.92:99 -chr1 2916874 . G A 4.25 PASS AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=1;HaplotypeScore=3.93;MQ=45.85;MQ0=1;OQ=812.26;QD=13.32;SB=-234.49 GT:AD:DP:GL:GQ 0/1:33,28:56:-101.38,-16.87,-110.18:99 -chr1 2917035 rs12028439 A G 6.74 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=4.28;MQ=54.23;MQ0=0;OQ=1040.90;QD=18.93;SB=-369.97 GT:AD:DP:GL:GQ 0/1:20,35:53:-123.34,-15.97,-76.66:99 -chr1 2917114 rs12024879 G A 187.61 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=55.08;MQ0=0;OQ=934.32;QD=17.30;SB=-362.51 GT:AD:DP:GL:GQ 0/1:25,29:52:-112.38,-15.67,-83.45:99 -chr1 2917331 rs12027818 C T 143.12 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.51;MQ=58.15;MQ0=1;OQ=1252.97;QD=20.21;SB=-536.07 GT:AD:DP:GL:GQ 0/1:25,37:61:-146.97,-18.38,-79.78:99 -chr1 2917538 rs12027883 C T 346.92 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=58.55;MQ0=0;OQ=1081.24;QD=14.42;SB=-345.82 GT:AD:DP:GL:GQ 0/1:42,33:74:-133.70,-22.29,-151.25:99 -chr1 2918836 rs6681651 C T 64.93 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=60.00;MQ0=0;OQ=454.13;QD=15.66;SB=-29.51 GT:AD:DP:GL:GQ 0/1:13,16:27:-56.83,-8.14,-47.37:99 -chr1 2921187 rs6691208 C A 92.06 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=59.63;MQ0=0;OQ=715.52;QD=11.36;SB=-355.27 GT:AD:DP:GL:GQ 0/1:37,26:61:-93.21,-18.38,-116.36:99 -chr1 2921274 rs4357486 G C 320.40 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=59.45;MQ0=0;OQ=673.44;QD=16.03;SB=-361.79 GT:AD:DP:GL:GQ 0/1:20,22:41:-83.00,-12.37,-84.03:99 -chr1 2921300 rs4486390 C T 182.10 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=3.96;MQ=59.45;MQ0=0;OQ=737.41;QD=17.56;SB=-360.43 GT:AD:DP:GL:GQ 0/1:18,24:38:-88.48,-11.46,-48.81:99 -chr1 2922007 rs59869348 T C 59.62 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=2.22;MQ=59.22;MQ0=0;OQ=864.59;QD=16.01;SB=-414.28 GT:AD:DP:GL:GQ 0/1:23,31:52:-105.41,-15.67,-90.49:99 -chr1 2922076 rs59041920 C T 58.92 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=4.59;MQ=59.36;MQ0=0;OQ=1222.53;QD=18.81;SB=-446.93 GT:AD:DP:GL:GQ 0/1:26,38:58:-143.01,-17.47,-78.18:99 -chr1 2922420 . C T 142.55 PASS AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.39;MQ=58.20;MQ0=0;OQ=828.62;QD=13.81;SB=-355.45 GT:AD:DP:GL:GQ 0/1:34,26:58:-103.62,-17.47,-119.28:99 -chr1 2922927 . A G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=28;Dels=0.00;HRun=1;HaplotypeScore=3.70;MQ=45.44;MQ0=1;OQ=81.65;QD=2.92;SB=-41.94 GT:AD:DP:GL:GQ 0/1:20,8:20:-17.47,-6.02,-59.35:99 -chr1 2923073 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=21;Dels=0.05;HRun=1;HaplotypeScore=30.97;MQ=45.34;MQ0=0;OQ=111.92;QD=5.33;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,8:13:-18.39,-3.92,-26.21:99 -chr1 2923110 . A C 47.42 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=13;Dels=0.00;HRun=0;HaplotypeScore=28.91;MQ=36.30;MQ0=0;QD=3.65;SB=5.05 GT:AD:DP:GL:GQ 0/1:6,4:10:-13.77,-5.74,-26.81:80.25 -chr1 2923762 rs6680573 C G 6.28 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=2;HaplotypeScore=3.37;MQ=60.00;MQ0=0;OQ=313.93;QD=10.46;SB=-109.66 GT:AD:DP:GL:GQ 0/1:20,10:28:-43.13,-8.46,-67.50:99 -chr1 2924595 rs56200661 C T 138.23 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=58.81;MQ0=0;OQ=702.85;QD=18.02;SB=-315.84 GT:AD:DP:GL:GQ 0/1:17,22:37:-84.72,-11.16,-50.65:99 -chr1 2924706 . G A 66.14 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.09;MQ0=0;OQ=681.79;QD=16.63;SB=-295.78 GT:AD:DP:GL:GQ 0/1:19,22:39:-83.22,-11.75,-60.51:99 -chr1 2926246 rs12564456 C G 10.43 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=3;HaplotypeScore=2.61;MQ=58.69;MQ0=0;OQ=646.12;QD=12.92;SB=-206.63 GT:AD:DP:GL:GQ 0/1:26,24:45:-81.49,-13.60,-94.41:99 -chr1 2926340 rs10752732 T C 133.80 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.12;MQ=58.78;MQ0=0;OQ=1282.63;QD=33.75;SB=-620.25 GT:AD:DP:GL:GQ 1/1:0,38:38:-131.87,-11.45,-0.02:99 -chr1 2926606 rs55949537 A T 46.15 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=3.14;MQ=59.67;MQ0=0;OQ=1017.41;QD=14.13;SB=-469.52 GT:AD:DP:GL:GQ 0/1:36,35:69:-125.81,-20.79,-130.04:99 -chr1 2926614 rs55784203 G T 254.87 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.49;MQ=59.65;MQ0=0;OQ=972.92;QD=14.31;SB=-412.15 GT:AD:DP:GL:GQ 0/1:33,35:66:-120.46,-19.89,-108.03:99 -chr1 2926663 rs56091202 A G 268.72 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.61;MQ=59.60;MQ0=0;OQ=738.64;QD=12.74;SB=-307.21 GT:AD:DP:GL:GQ 0/1:29,29:57:-94.32,-17.18,-112.23:99 -chr1 2926891 . A G 0.34 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=3;HaplotypeScore=3.44;MQ=59.42;MQ0=0;OQ=538.71;QD=11.22;SB=-143.63 GT:AD:DP:GL:GQ 0/1:27,21:47:-71.31,-14.16,-109.92:99 -chr1 2927088 rs61266721 G A 167.43 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=3.88;MQ=59.23;MQ0=0;OQ=1016.77;QD=16.95;SB=-453.45 GT:AD:DP:GL:GQ 0/1:30,30:57:-122.14,-17.18,-86.53:99 -chr1 2927410 rs12033927 A G 358.86 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=1.45;MQ=59.13;MQ0=0;OQ=706.05;QD=14.71;SB=-368.25 GT:AD:DP:GL:GQ 0/1:23,25:48:-88.35,-14.46,-94.54:99 -chr1 2927411 rs12034794 T G 337.44 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=1.45;MQ=59.15;MQ0=0;OQ=614.57;QD=12.54;SB=-294.80 GT:AD:DP:GL:GQ 0/1:24,25:47:-78.90,-14.16,-89.23:99 -chr1 2928125 rs4576609 C T 277.54 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=4.12;MQ=57.60;MQ0=0;OQ=875.52;QD=14.35;SB=-423.82 GT:AD:DP:GL:GQ 0/1:31,30:59:-108.62,-17.78,-98.44:99 -chr1 2928429 rs35806103 C T 10.78 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=2.15;MQ=59.80;MQ0=0;OQ=886.08;QD=19.69;SB=-315.84 GT:AD:DP:GL:GQ 0/1:17,27:42:-104.54,-12.65,-59.38:99 -chr1 2928557 rs3795262 T G 88 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=58.78;MQ0=0;OQ=296.95;QD=7.81;SB=-58.83 GT:AD:DP:GL:GQ 0/1:21,17:33:-42.92,-9.94,-74.02:99 -chr1 2928784 . T G 4.50 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=2;HaplotypeScore=2.61;MQ=58.98;MQ0=0;OQ=615.11;QD=15.00;SB=-301.85 GT:AD:DP:GL:GQ 0/1:17,24:38:-76.24,-11.45,-59.09:99 -chr1 2929872 rs55873718 A G 218.87 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=59.73;MQ0=0;OQ=845.74;QD=10.07;SB=-404.66 GT:AD:DP:GL:GQ 0/1:48,36:83:-112.88,-25.02,-189.40:99 -chr1 2930858 rs56176404 A G 226.80 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=59.44;MQ0=0;OQ=1022.49;QD=13.82;SB=-491.10 GT:AD:DP:GL:GQ 0/1:38,36:73:-127.52,-21.99,-154.69:99 -chr1 2932289 rs55885250 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.04;HRun=0;HaplotypeScore=32.21;MQ=45.88;MQ0=1;OQ=148.06;QD=1.90;SB=104.37 GT:AD:DP:GL:GQ 0/1:58,16:68:-38.29,-20.20,-216.63:99 -chr1 2932299 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=92;Dels=0.02;HRun=0;HaplotypeScore=97.52;MQ=43.85;MQ0=0;OQ=59.90;QD=0.65;SB=104.31 GT:AD:DP:GL:GQ 0/1:78,12:69:-29.77,-20.49,-208.32:92.74 -chr1 2932325 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=91;Dels=0.02;HRun=1;HaplotypeScore=195.32;MQ=42.40;MQ0=0;OQ=612.63;QD=6.73;SB=-162.19 GT:AD:DP:GL:GQ 0/1:51,38:73:-86.24,-21.70,-183.14:99 -chr1 2932341 . A G 250.48 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=1;HaplotypeScore=40.55;MQ=40.81;MQ0=0;QD=2.04;SB=89.32 GT:AD:DP:GL:GQ 0/1:96,27:107:-60.57,-32.24,-364.33:99 -chr1 2932343 . G A 487.06 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=123;Dels=0.01;HRun=0;HaplotypeScore=44.00;MQ=40.81;MQ0=0;QD=3.96;SB=58.75 GT:AD:DP:GL:GQ 0/1:99,23:108:-84.22,-32.23,-314.56:99 -chr1 2932349 . G A 708.07 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=122;Dels=0.00;HRun=1;HaplotypeScore=35.72;MQ=40.62;MQ0=0;QD=5.80;SB=89.29 GT:AD:DP:GL:GQ 0/1:95,27:119:-109.94,-35.84,-335.64:99 -chr1 2932354 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=126;Dels=0.00;HRun=0;HaplotypeScore=77.99;MQ=40.25;MQ0=0;OQ=691.65;QD=5.49;SB=86.28 GT:AD:DP:GL:GQ 0/1:97,29:123:-109.51,-37.06,-349.27:99 -chr1 2932376 . T G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=129;Dels=0.00;HRun=2;HaplotypeScore=11.36;MQ=39.42;MQ0=0;OQ=679.31;QD=5.27;SB=92.31 GT:AD:DP:GL:GQ 0/1:96,32:117:-106.47,-35.26,-303.35:99 -chr1 2932379 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=125;Dels=0.01;HRun=1;HaplotypeScore=36.27;MQ=39.15;MQ0=0;OQ=716.76;QD=5.73;SB=92.27 GT:AD:DP:GL:GQ 0/1:94,28:121:-111.11,-36.16,-333.12:99 -chr1 2932387 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=113;Dels=0.00;HRun=0;HaplotypeScore=36.67;MQ=38.20;MQ0=0;OQ=140.95;QD=1.25;SB=77.24 GT:AD:DP:GL:GQ 0/1:93,19:101:-47.83,-30.45,-304.67:99 -chr1 2932417 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=0;HaplotypeScore=80.35;MQ=36.74;MQ0=0;OQ=291.45;QD=2.83;SB=86.26 GT:AD:DP:GL:GQ 0/1:76,27:77:-55.63,-23.21,-217.09:99 -chr1 2932437 . G A 14.74 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=0;HaplotypeScore=80.96;MQ=35.05;MQ0=0;QD=0.16;SB=80.26 GT:AD:DP:GL:GQ 0/1:79,12:67:-24.93,-20.19,-214.14:47.43 -chr1 2932441 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=0;HaplotypeScore=78.31;MQ=34.28;MQ0=0;OQ=251.61;QD=2.83;SB=77.24 GT:AD:DP:GL:GQ 0/1:70,19:66:-48.33,-19.89,-185.59:99 -chr1 2932450 rs55992205 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=52.98;MQ=32.53;MQ0=0;OQ=616.18;QD=7.16;SB=92.26 GT:AD:DP:GL:GQ 0/1:64,22:76:-87.80,-22.90,-186.06:99 -chr1 2932474 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=98;Dels=0.05;HRun=0;HaplotypeScore=121.87;MQ=31.47;MQ0=0;OQ=770.86;QD=7.87;SB=104.31 GT:AD:DP:GL:GQ 0/1:66,27:80:-104.48,-24.11,-189.46:99 -chr1 2932495 . A G 458.76 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=100;Dels=0.00;HRun=1;HaplotypeScore=104.10;MQ=35.05;MQ0=0;QD=4.59;SB=98.32 GT:AD:DP:GL:GQ 0/1:77,23:78:-72.67,-23.51,-220.09:99 -chr1 2932498 . G A 771.99 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=96;Dels=0.00;HRun=0;HaplotypeScore=85.95;MQ=35.28;MQ0=0;QD=8.04;SB=59.63 GT:AD:DP:GL:GQ 0/1:70,26:76:-103.38,-22.90,-174.72:99 -chr1 2932501 . G A 15.55 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=78.10;MQ=36.15;MQ0=0;QD=0.16;SB=-7.88 GT:AD:DP:GL:GQ 0/1:82,13:64:-24.12,-19.29,-198.59:48.26 -chr1 2932516 . A G 437.11 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=100;Dels=0.02;HRun=2;HaplotypeScore=90.55;MQ=38.01;MQ0=0;QD=4.37;SB=68.24 GT:AD:DP:GL:GQ 0/1:78,20:76:-69.30,-22.30,-207.20:99 -chr1 2932519 . A G 420.64 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=113;Dels=0.00;HRun=1;HaplotypeScore=127.72;MQ=37.64;MQ0=1;QD=3.72;SB=86.29 GT:AD:DP:GL:GQ 0/1:90,23:88:-71.87,-26.52,-261.50:99 -chr1 2932522 . A G 354.05 SnpCluster AC=1;AF=0.50;AN=2;DP=116;Dels=0.02;HRun=1;HaplotypeScore=155.74;MQ=37.22;MQ0=2;QD=3.05;SB=-178.30 GT:AD:DP:GL:GQ 0/1:89,24:100:-68.22,-29.53,-308.19:99 -chr1 2932531 . G A 40.28 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=127;Dels=0.02;HRun=0;HaplotypeScore=95.96;MQ=37.07;MQ0=3;QD=0.32;SB=-35.75 GT:AD:DP:GL:GQ 0/1:114,11:85:-32.32,-25.01,-255.84:73.11 -chr1 2932543 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=125;Dels=0.00;HRun=0;HaplotypeScore=90.42;MQ=36.51;MQ0=3;OQ=448.17;QD=3.59;SB=-29.75 GT:AD:DP:GL:GQ 0/1:94,23:99:-91.60,-43.50,-272.82:99 -chr1 2932549 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=1;HaplotypeScore=106.24;MQ=36.58;MQ0=3;OQ=776.41;QD=6.81;SB=20.21 GT:AD:DP:GL:GQ 0/1:80,34:91:-108.36,-27.43,-223.52:99 -chr1 2932558 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=105;Dels=0.00;HRun=0;HaplotypeScore=87.01;MQ=36.91;MQ0=2;OQ=55.94;QD=0.53;SB=50.16 GT:AD:DP:GL:GQ 0/1:89,16:77:-32.08,-23.20,-238.58:88.78 -chr1 2932594 . A G 95.90 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=101;Dels=0.01;HRun=2;HaplotypeScore=79.79;MQ=37.41;MQ0=0;QD=0.95;SB=41.16 GT:AD:DP:GL:GQ 0/1:85,15:78:-36.37,-23.50,-267.93:99 -chr1 2932595 . G T 858.77 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=99;Dels=0.01;HRun=0;HaplotypeScore=92.92;MQ=37.56;MQ0=0;QD=8.67;SB=50.17 GT:AD:DP:GL:GQ 0/1:57,41:82:-113.86,-24.70,-181.24:99 -chr1 2932597 . A G 613.75 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=100;Dels=0.01;HRun=2;HaplotypeScore=83.48;MQ=37.85;MQ0=0;QD=6.14;SB=53.19 GT:AD:DP:GL:GQ 0/1:69,29:84:-89.97,-25.31,-224.02:99 -chr1 2932647 . A G 424.25 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=1;HaplotypeScore=36.34;MQ=40.26;MQ0=1;QD=3.82;SB=65.23 GT:AD:DP:GL:GQ 0/1:87,24:95:-74.33,-28.62,-285.65:99 -chr1 2932650 . G A 15.47 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=115;Dels=0.00;HRun=0;HaplotypeScore=35.26;MQ=39.92;MQ0=1;QD=0.13;SB=83.21 GT:AD:DP:GL:GQ 0/1:106,9:104:-36.16,-31.34,-318.46:48.18 -chr1 2932656 . G A 597.61 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=0;HaplotypeScore=41.23;MQ=39.70;MQ0=1;QD=5.24;SB=83.24 GT:AD:DP:GL:GQ 0/1:85,29:104:-94.39,-31.34,-268.84:99 -chr1 2932671 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=128;Dels=0.00;HRun=1;HaplotypeScore=55.64;MQ=38.11;MQ0=1;OQ=790.23;QD=6.17;SB=74.25 GT:AD:DP:GL:GQ 0/1:94,34:113:-116.34,-34.04,-292.03:99 -chr1 2932680 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=128;Dels=0.00;HRun=0;HaplotypeScore=32.69;MQ=37.68;MQ0=1;OQ=1237.37;QD=9.67;SB=74.20 GT:AD:DP:GL:GQ 0/1:85,43:122:-163.79,-36.76,-270.86:99 -chr1 2932682 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=130;Dels=0.00;HRun=0;HaplotypeScore=26.80;MQ=37.61;MQ0=1;OQ=704.94;QD=5.42;SB=71.27 GT:AD:DP:GL:GQ 0/1:103,27:122:-110.54,-36.77,-411.49:99 -chr1 2932721 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=120;Dels=0.00;HRun=0;HaplotypeScore=36.50;MQ=39.93;MQ0=0;OQ=181.45;QD=1.51;SB=92.30 GT:AD:DP:GL:GQ 0/1:93,27:104:-52.76,-31.33,-321.47:99 -chr1 2932727 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=0;HaplotypeScore=27.86;MQ=40.16;MQ0=0;OQ=588.52;QD=5.35;SB=83.30 GT:AD:DP:GL:GQ 0/1:83,27:109:-94.97,-32.83,-329.92:99 -chr1 2932738 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=1;HaplotypeScore=39.11;MQ=39.53;MQ0=0;OQ=873.00;QD=7.94;SB=74.25 GT:AD:DP:GL:GQ 0/1:74,36:108:-123.12,-32.54,-289.99:99 -chr1 2932769 . G A 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=0;HaplotypeScore=7.13;MQ=40.78;MQ0=0;OQ=619.13;QD=6.59;SB=56.17 GT:AD:DP:GL:GQ 0/1:71,23:91:-92.61,-27.42,-231.77:99 -chr1 2933043 rs7412983 A C 563.74 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.39;MQ0=0;OQ=861.61;QD=12.67;SB=-438.69 GT:AD:DP:GL:GQ 0/1:37,31:65:-109.02,-19.58,-126.93:99 -chr1 2933258 rs58265521 C A 261.91 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=59.67;MQ0=0;OQ=928.26;QD=16.29;SB=-439.21 GT:AD:DP:GL:GQ 0/1:24,33:53:-112.08,-15.97,-65.68:99 -chr1 2933528 rs60287244 A G 23.05 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=7.04;MQ=58.03;MQ0=0;OQ=739.69;QD=12.98;SB=-372.23 GT:AD:DP:GL:GQ 0/1:30,27:55:-93.82,-16.57,-116.71:99 -chr1 2933898 rs12034766 A G 35.30 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=3;HaplotypeScore=1.69;MQ=58.27;MQ0=0;OQ=600.73;QD=11.12;SB=-275.56 GT:AD:DP:GL:GQ 0/1:26,28:51:-78.73,-15.38,-104.98:99 -chr1 2933946 rs12033401 C T 155.60 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=3.82;MQ=57.46;MQ0=0;OQ=525.20;QD=14.19;SB=-282.22 GT:AD:DP:GL:GQ 0/1:16,21:31:-65.15,-9.35,-44.32:99 -chr1 2934531 rs57893585 T A 124.36 PASS AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.24;MQ0=0;OQ=372.99;QD=15.54;SB=-168.83 GT:AD:DP:GL:GQ 0/1:10,14:21:-46.91,-6.33,-28.06:99 -chr1 2935764 rs12035292 C T 0.26 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=10.18;MQ=43.51;MQ0=2;OQ=248.84;QD=4.70;SB=-149.59 GT:AD:DP:GL:GQ 0/1:30,23:31:-37.51,-9.34,-74.68:99 -chr1 2935800 rs6693975 G A 0.65 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=6.49;MQ=45.50;MQ0=1;OQ=189.85;QD=4.75;SB=-111.56 GT:AD:DP:GL:GQ 0/1:24,16:23:-29.21,-6.94,-45.54:99 -chr1 2935836 rs6693982 G A 38.33 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=2.48;MQ=49.72;MQ0=2;OQ=286.18;QD=6.36;SB=-139.13 GT:AD:DP:GL:GQ 0/1:25,20:29:-40.65,-8.75,-58.79:99 -chr1 2936586 rs12038530 T A 386.33 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.13;MQ0=0;OQ=538.23;QD=11.21;SB=-193.51 GT:AD:DP:GL:GQ 0/1:29,19:46:-70.96,-13.86,-104.56:99 -chr1 2937616 rs12037307 C A 453.51 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.11;MQ0=0;OQ=785.06;QD=15.10;SB=-326.01 GT:AD:DP:GL:GQ 0/1:25,27:52:-97.46,-15.67,-88.48:99 -chr1 2937769 rs12039548 T C 374.78 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.69;MQ=59.62;MQ0=0;OQ=1018.45;QD=16.97;SB=-485.32 GT:AD:DP:GL:GQ 0/1:25,35:58:-122.60,-17.48,-90.45:99 -chr1 2937880 rs12034573 G A 539.50 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.97;MQ0=0;OQ=601.18;QD=13.36;SB=-263.26 GT:AD:DP:GL:GQ 0/1:25,20:44:-76.67,-13.27,-77.09:99 -chr1 2938038 rs10909864 T C 31.93 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=3.17;MQ=58.15;MQ0=0;OQ=603.85;QD=12.58;SB=-301.61 GT:AD:DP:GL:GQ 0/1:20,28:44:-76.94,-13.27,-79.42:99 -chr1 2938888 rs1890338 C T 331.53 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=59.50;MQ0=0;OQ=622.92;QD=13.54;SB=-315.86 GT:AD:DP:GL:GQ 0/1:22,23:40:-77.64,-12.06,-61.98:99 -chr1 2939215 rs12039132 C T 18.71 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=58.67;MQ0=0;OQ=590.59;QD=16.87;SB=-94.60 GT:AD:DP:GL:GQ 0/1:16,19:32:-71.99,-9.65,-41.59:99 -chr1 2939467 rs7514166 G C 161.11 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=58.11;MQ0=0;OQ=380.76;QD=10.29;SB=-57.73 GT:AD:DP:GL:GQ 0/1:23,14:34:-51.61,-10.25,-87.39:99 -chr1 2939859 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=9;HaplotypeScore=3.75;MQ=51.46;MQ0=0;OQ=333.21;QD=11.49;SB=-54.83 GT:AD:DP:GL:GQ 0/1:17,12:25:-44.15,-7.55,-58.82:99 -chr1 2939927 rs34408665 T C 431.23 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=58.91;MQ0=0;OQ=752.79;QD=11.76;SB=-348.05 GT:AD:DP:GL:GQ 0/1:32,32:61:-96.95,-18.39,-123.70:99 -chr1 2939954 rs58052947 T C 258.56 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.29;MQ=58.84;MQ0=0;OQ=891.02;QD=13.92;SB=-428.88 GT:AD:DP:GL:GQ 0/1:28,36:63:-111.38,-19.00,-108.25:99 -chr1 2940097 rs56398543 G A 185.44 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=57.77;MQ0=0;OQ=622.10;QD=14.81;SB=-266.78 GT:AD:DP:GL:GQ 0/1:21,21:40:-77.55,-12.06,-68.06:99 -chr1 2940194 rs6661908 G A 424.22 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.03;MQ0=0;OQ=1140.17;QD=20.00;SB=-442.95 GT:AD:DP:GL:GQ 0/1:24,33:57:-134.47,-17.17,-86.30:99 -chr1 2940230 rs41334845 G T 113.62 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.36;MQ0=0;OQ=1373.67;QD=21.13;SB=-590.07 GT:AD:DP:GL:GQ 0/1:21,44:63:-159.63,-18.98,-64.63:99 -chr1 2940454 rs6679678 T C 216.89 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=60.00;MQ0=0;OQ=522.35;QD=9.16;SB=-250.32 GT:AD:DP:GL:GQ 0/1:31,26:48:-69.99,-14.47,-101.54:99 -chr1 2940732 rs12042403 T C 312.83 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.74;MQ0=0;OQ=888.06;QD=12.51;SB=-433.91 GT:AD:DP:GL:GQ 0/1:39,32:70:-113.18,-21.09,-157.81:99 -chr1 2940746 rs12041583 A G 452.19 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.72;MQ0=0;OQ=809.95;QD=12.27;SB=-418.24 GT:AD:DP:GL:GQ 0/1:35,31:63:-103.26,-18.98,-134.35:99 -chr1 2940894 rs12041634 A T 208.26 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=886.35;QD=14.77;SB=-371.51 GT:AD:DP:GL:GQ 0/1:30,30:60:-110.00,-18.08,-114.34:99 -chr1 2940901 rs12040299 C T 487.76 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=953.57;QD=15.63;SB=-409.79 GT:AD:DP:GL:GQ 0/1:31,30:60:-116.73,-18.09,-97.56:99 -chr1 2941104 rs10489589 T C 232.05 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=59.67;MQ0=0;OQ=498.13;QD=8.90;SB=-202.46 GT:AD:DP:GL:GQ 0/1:33,23:54:-69.37,-16.27,-132.36:99 -chr1 2941207 . G A 104.13 PASS AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=59.25;MQ0=0;OQ=904.38;QD=16.15;SB=-378.12 GT:AD:DP:GL:GQ 0/1:27,29:55:-110.29,-16.57,-94.24:99 -chr1 2941209 . T C 102.69 PASS AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=59.25;MQ0=0;OQ=663.66;QD=11.85;SB=-280.62 GT:AD:DP:GL:GQ 0/1:26,30:53:-85.63,-15.98,-103.85:99 -chr1 2941371 rs12408197 C T 428.36 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=717.16;QD=12.36;SB=-246.23 GT:AD:DP:GL:GQ 0/1:33,25:52:-90.68,-15.68,-91.34:99 -chr1 2941666 . T C 142.44 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.70;MQ0=0;OQ=433.61;QD=8.50;SB=-223.24 GT:AD:DP:GL:GQ 0/1:30,21:49:-61.42,-14.77,-117.95:99 -chr1 2941694 rs10489588 G A 184.48 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=3.01;MQ=58.17;MQ0=0;OQ=458.21;QD=8.98;SB=-152.21 GT:AD:DP:GL:GQ 0/1:34,17:47:-63.28,-14.17,-98.47:99 -chr1 2941849 . C T 36.18 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=3.75;MQ=59.44;MQ0=0;OQ=1385.60;QD=18.72;SB=-578.48 GT:AD:DP:GL:GQ 0/1:29,44:70:-162.94,-21.10,-91.88:99 -chr1 2942163 rs2017600 A C 566.08 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.37;MQ0=0;OQ=2376.48;QD=32.55;SB=-930.21 GT:AD:DP:GL:GQ 1/1:0,72:69:-241.26,-20.78,-0.03:99 -chr1 2942474 rs1005471 T C 5.22 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=4;HaplotypeScore=1.12;MQ=60.00;MQ0=0;OQ=441.09;QD=10.02;SB=-191.58 GT:AD:DP:GL:GQ 0/1:27,17:44:-60.65,-13.26,-106.56:99 -chr1 2942683 rs9660819 C T 0.66 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=5.17;MQ=58.20;MQ0=0;OQ=155.13;QD=5.97;SB=-65.81 GT:AD:DP:GL:GQ 0/1:19,7:24:-26.03,-7.23,-63.04:99 -chr1 2942700 rs9661525 T G 36.57 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=59.11;MQ0=0;OQ=126.09;QD=4.85;SB=-19.97 GT:AD:DP:GL:GQ 0/1:19,7:25:-23.42,-7.53,-64.66:99 -chr1 2943003 . G A 0.16 PASS AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=2;HaplotypeScore=0.67;MQ=59.14;MQ0=0;OQ=556.71;QD=20.62;SB=-180.72 GT:AD:DP:GL:GQ 0/1:10,17:27:-67.10,-8.14,-31.23:99 -chr1 2943693 rs16823392 C G 180.70 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=1.22;MQ=57.09;MQ0=0;OQ=626.82;QD=16.07;SB=-312.19 GT:AD:DP:GL:GQ 0/1:21,18:38:-77.42,-11.46,-83.70:99 -chr1 2943891 . A G 12.02 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=54.82;MQ0=0;OQ=422.22;QD=8.28;SB=-205.52 GT:AD:DP:GL:GQ 0/1:33,18:49:-60.27,-14.76,-127.83:99 -chr1 2943911 . C T 10.41 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.91;MQ=52.84;MQ0=0;QD=0.25;SB=11.05 GT:AD:DP:GL:GQ 0/1:24,17:24:-11.53,-7.24,-65.03:42.84 -chr1 2943915 . A G 396.79 SnpCluster AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=3;HaplotypeScore=1.74;MQ=53.20;MQ0=0;QD=9.23;SB=-114.71 GT:AD:DP:GL:GQ 0/1:25,18:39:-54.71,-11.75,-89.79:99 -chr1 2943921 . G A 412.53 SnpCluster AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=53.30;MQ0=0;QD=10.31;SB=-110.52 GT:AD:DP:GL:GQ 0/1:23,17:37:-55.69,-11.15,-76.61:99 -chr1 2943983 . T C 18.12 PASS AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.49;MQ=57.65;MQ0=0;OQ=359.40;QD=9.46;SB=-125.65 GT:AD:DP:GL:GQ 0/1:21,17:36:-50.07,-10.85,-82.05:99 -chr1 2944025 . C T 103.45 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=58.94;MQ0=0;OQ=634.89;QD=13.23;SB=-327.90 GT:AD:DP:GL:GQ 0/1:27,21:45:-80.34,-13.56,-81.81:99 -chr1 2944063 . C T 0.51 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=4;HaplotypeScore=2.62;MQ=59.46;MQ0=0;OQ=776.27;QD=15.22;SB=-389.17 GT:AD:DP:GL:GQ 0/1:26,25:47:-95.07,-14.16,-76.30:99 -chr1 2944068 . G A 119.57 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.51;MQ=59.46;MQ0=0;OQ=782.48;QD=15.34;SB=-373.90 GT:AD:DP:GL:GQ 0/1:25,26:49:-96.29,-14.76,-89.91:99 -chr1 2944090 . T C 3.70 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=2;HaplotypeScore=2.56;MQ=59.48;MQ0=0;OQ=656.17;QD=12.38;SB=-215.36 GT:AD:DP:GL:GQ 0/1:27,26:49:-83.67,-14.77,-97.10:99 -chr1 2944157 . T C 29.83 PASS AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.70;MQ=59.30;MQ0=0;OQ=936.38;QD=15.61;SB=-205.50 GT:AD:DP:GL:GQ 0/1:27,33:58:-114.40,-17.47,-101.34:99 -chr1 2944208 rs4996810 A C 0.07 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=3.45;MQ=56.26;MQ0=1;OQ=219.14;QD=3.48;SB=-132.81 GT:AD:DP:GL:GQ 0/1:47,15:56:-42.07,-16.87,-150.42:99 -chr1 2944226 . G A 136.97 PASS AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.40;MQ0=1;OQ=501.67;QD=8.36;SB=-261.69 GT:AD:DP:GL:GQ 0/1:41,19:55:-70.03,-16.58,-122.86:99 -chr1 2944238 . T C 5.54 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=54.51;MQ0=0;OQ=327.91;QD=6.43;SB=-156.50 GT:AD:DP:GL:GQ 0/1:37,14:48:-50.53,-14.46,-136.22:99 -chr1 2944239 . T C 1.08 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=4.23;MQ=54.83;MQ0=0;OQ=279.86;QD=5.18;SB=-104.43 GT:AD:DP:GL:GQ 0/1:40,14:49:-46.04,-14.77,-139.11:99 -chr1 2945018 rs12036378 G A 163.77 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=59.58;MQ0=0;OQ=895.36;QD=16.28;SB=-275.78 GT:AD:DP:GL:GQ 0/1:27,28:53:-108.80,-15.98,-79.65:99 -chr1 2945105 rs55863899 C G 134.28 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.52;MQ0=0;OQ=868.77;QD=18.10;SB=-284.96 GT:AD:DP:GL:GQ 0/1:21,27:46:-104.04,-13.88,-85.12:99 -chr1 2945790 . A G 4.08 PASS AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=57.28;MQ0=0;OQ=318.97;QD=15.19;SB=-83.80 GT:AD:DP:GL:GQ 0/1:8,13:20:-41.21,-6.03,-32.48:99 -chr1 2946023 rs10909865 A G 147.02 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=3.15;MQ=60.00;MQ0=0;OQ=547.73;QD=10.74;SB=-195.64 GT:AD:DP:GL:GQ 0/1:24,27:47:-72.23,-14.17,-93.16:99 -chr1 2946442 . A G 66.31 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.61;MQ0=0;OQ=798.37;QD=10.79;SB=-385.01 GT:AD:DP:GL:GQ 0/1:39,35:70:-104.22,-21.10,-152.02:99 -chr1 2946526 rs2993510 T C 256.19 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=59.44;MQ0=0;OQ=807.53;QD=9.73;SB=-328.89 GT:AD:DP:GL:GQ 0/1:47,36:81:-108.45,-24.41,-191.18:99 -chr1 2946859 rs12567620 T G 251.94 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=59.22;MQ0=0;OQ=588.28;QD=9.97;SB=-221.33 GT:AD:DP:GL:GQ 0/1:35,23:57:-79.28,-17.17,-127.60:99 -chr1 2947460 rs12409277 T C 554.91 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1261.63;QD=14.67;SB=-598.55 GT:AD:DP:GL:GQ 0/1:39,47:86:-155.36,-25.92,-158.90:99 -chr1 2948421 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=83;Dels=0.02;HRun=17;HaplotypeScore=13.52;MQ=50.26;MQ0=0;OQ=57.24;QD=0.69;SB=67.75 GT:AD:DP:GL:GQ 0/1:69,12:60:-26.49,-17.48,-170.55:90.07 -chr1 2948568 rs12044162 A G 115.23 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=57.63;MQ0=0;OQ=498.67;QD=9.23;SB=-105.58 GT:AD:DP:GL:GQ 0/1:33,21:52:-68.82,-15.67,-126.86:99 -chr1 2949062 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=21.05;MQ=49.42;MQ0=0;OQ=103.70;QD=2.53;SB=-31.97 GT:AD:DP:GL:GQ 0/1:35,6:34:-23.91,-10.25,-88.62:99 -chr1 2949076 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=1;HaplotypeScore=103.01;MQ=49.60;MQ0=0;OQ=345.15;QD=7.50;SB=-146.53 GT:AD:DP:GL:GQ 0/1:33,13:40:-49.87,-12.07,-111.45:99 -chr1 2949080 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=47.15;MQ=49.74;MQ0=0;OQ=115.37;QD=2.35;SB=-79.50 GT:AD:DP:GL:GQ 0/1:37,11:45:-31.37,-16.54,-140.93:99 -chr1 2949088 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=39.37;MQ=50.39;MQ0=0;OQ=395.27;QD=7.60;SB=-176.85 GT:AD:DP:GL:GQ 0/1:38,14:46:-56.68,-13.87,-100.52:99 -chr1 2949107 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=1;HaplotypeScore=4.13;MQ=51.92;MQ0=0;OQ=58.43;QD=0.96;SB=-33.78 GT:AD:DP:GL:GQ 0/1:53,8:55:-25.70,-16.57,-188.08:91.26 -chr1 2949470 rs6692292 T C 310.38 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=58.36;MQ0=0;OQ=1146.89;QD=15.93;SB=-322.30 GT:AD:DP:GL:GQ 0/1:33,39:71:-139.36,-21.39,-132.11:99 -chr1 2949881 rs56213325 G A 8.56 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=3;HaplotypeScore=3.87;MQ=58.97;MQ0=0;OQ=1032.99;QD=16.40;SB=-387.12 GT:AD:DP:GL:GQ 0/1:30,33:61:-124.96,-18.37,-109.42:99 -chr1 2950052 rs12045368 A G 278.87 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=53.32;MQ0=0;OQ=936.38;QD=14.41;SB=-275.26 GT:AD:DP:GL:GQ 0/1:28,37:62:-115.61,-18.69,-106.66:99 -chr1 2950232 rs10909866 C T 182.72 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=57.68;MQ0=0;OQ=969.99;QD=15.90;SB=-309.81 GT:AD:DP:GL:GQ 0/1:32,29:61:-118.67,-18.38,-109.12:99 -chr1 2950468 rs12046233 A G 39.17 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=2.71;MQ=59.23;MQ0=0;OQ=754.54;QD=12.58;SB=-279.44 GT:AD:DP:GL:GQ 0/1:30,30:55:-95.31,-16.57,-110.00:99 -chr1 2950650 rs12044848 C T 194.31 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.40;MQ=59.52;MQ0=0;OQ=784.81;QD=16.35;SB=-285.29 GT:AD:DP:GL:GQ 0/1:24,24:47:-95.92,-14.16,-84.23:99 -chr1 2950883 . C A 3.38 PASS AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=1;HaplotypeScore=2.94;MQ=60.00;MQ0=0;OQ=1395.15;QD=16.81;SB=-283.26 GT:AD:DP:GL:GQ 0/1:36,46:82:-170.17,-27.37,-127.09:99 -chr1 2951230 rs56088946 T C 7.58 PASS AC=1;AF=0.50;AN=2;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=59.61;MQ0=0;OQ=1944.95;QD=16.34;SB=-964.49 GT:AD:DP:GL:GQ 0/1:53,66:118:-233.32,-35.54,-213.54:99 -chr1 2951262 rs10909867 G T 333.68 PASS AC=1;AF=0.50;AN=2;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=59.76;MQ0=0;OQ=1581.91;QD=16.48;SB=-612.08 GT:AD:DP:GL:GQ 0/1:44,52:95:-190.09,-28.61,-155.75:99 -chr1 2952067 rs10909868 A C 183.71 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=60.00;MQ0=0;OQ=929.11;QD=14.75;SB=-149.21 GT:AD:DP:GL:GQ 0/1:29,34:62:-114.87,-18.67,-108.28:99 -chr1 2952085 rs12048975 T C 158.31 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=60.00;MQ0=0;OQ=956.32;QD=14.94;SB=-180.58 GT:AD:DP:GL:GQ 0/1:30,34:62:-117.59,-18.68,-121.18:99 -chr1 2952452 rs2981859 G A 525.66 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.65;MQ0=0;OQ=2597.04;QD=39.95;SB=-874.18 GT:AD:DP:GL:GQ 1/1:0,65:65:-263.30,-19.58,-0.02:99 -chr1 2953353 rs7339938 G C 184.28 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1644.05;QD=21.35;SB=-832.89 GT:AD:DP:GL:GQ 0/1:34,43:75:-190.30,-22.61,-128.08:99 -chr1 2954257 rs12044831 A C 328.96 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=59.75;MQ0=0;OQ=969.03;QD=12.75;SB=-480.26 GT:AD:DP:GL:GQ 0/1:35,41:74:-122.48,-22.29,-132.71:99 -chr1 2956899 rs2993479 A T 39.42 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=7.90;MQ=58.88;MQ0=0;OQ=639.75;QD=11.85;SB=-334.02 GT:AD:DP:GL:GQ 0/1:32,22:53:-83.22,-15.96,-119.83:99 -chr1 2958839 . C T 167.01 PASS AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.03;MQ0=0;OQ=1118.18;QD=16.69;SB=-463.99 GT:AD:DP:GL:GQ 0/1:31,36:62:-133.80,-18.70,-86.01:99 -chr1 2958843 . G C 98.75 PASS AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=58.98;MQ0=0;OQ=1122.63;QD=17.54;SB=-409.32 GT:AD:DP:GL:GQ 0/1:29,34:58:-133.03,-17.49,-113.54:99 -chr1 2960143 rs56298939 A T 308.60 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.67;MQ0=0;OQ=788.46;QD=14.08;SB=-295.64 GT:AD:DP:GL:GQ 0/1:29,27:56:-99.00,-16.87,-109.64:99 -chr1 2960324 rs717795 T C 9.89 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=3;HaplotypeScore=2.74;MQ=59.13;MQ0=0;OQ=443.35;QD=8.37;SB=-240.88 GT:AD:DP:GL:GQ 0/1:32,21:49:-62.39,-14.77,-120.82:99 -chr1 2961312 rs56069604 T C 18.15 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=3;HaplotypeScore=0.73;MQ=58.64;MQ0=0;OQ=450.45;QD=14.53;SB=-212.67 GT:AD:DP:GL:GQ 0/1:13,18:29:-57.07,-8.74,-51.18:99 -chr1 2961381 rs2981857 T C 166.54 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.57;MQ=60.00;MQ0=0;OQ=428.10;QD=15.29;SB=-207.68 GT:AD:DP:GL:GQ 0/1:10,18:28:-54.54,-8.45,-38.77:99 -chr1 2962384 rs2981856 T C 282.12 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.73;MQ0=0;OQ=862.73;QD=12.32;SB=-362.96 GT:AD:DP:GL:GQ 0/1:34,36:67:-109.75,-20.19,-134.76:99 -chr1 2963182 rs2993480 C T 393.42 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=959.18;QD=15.72;SB=-400.92 GT:AD:DP:GL:GQ 0/1:31,30:60:-117.29,-18.09,-96.43:99 -chr1 2963293 rs2993481 A T 141.58 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=2.01;MQ=59.62;MQ0=0;OQ=743.23;QD=12.39;SB=-349.56 GT:AD:DP:GL:GQ 0/1:34,26:58:-95.08,-17.48,-119.69:99 -chr1 2963436 rs1109251 G A 197.81 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=1.34;MQ=60.00;MQ0=0;OQ=932.59;QD=15.04;SB=-469.42 GT:AD:DP:GL:GQ 0/1:34,28:62:-115.22,-18.68,-120.45:99 -chr1 2963924 . A G 132.32 PASS AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.54;MQ0=0;OQ=1229.61;QD=13.51;SB=-579.93 GT:AD:DP:GL:GQ 0/1:47,44:90:-153.35,-27.11,-189.83:99 -chr1 2964602 rs1125017 A C 413.02 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=60.00;MQ0=0;OQ=773.70;QD=11.90;SB=-364.77 GT:AD:DP:GL:GQ 0/1:35,30:63:-99.63,-18.98,-121.64:99 -chr1 2964712 rs2376821 T C 458.38 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.91;MQ0=0;OQ=2329.60;QD=30.25;SB=-1071.67 GT:AD:DP:GL:GQ 1/1:0,77:75:-236.63,-22.63,-0.08:99 -chr1 2964979 rs55775305 C G 191.90 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=59.60;MQ0=0;OQ=1095.41;QD=18.89;SB=-526.68 GT:AD:DP:GL:GQ 0/1:27,31:56:-129.70,-16.87,-112.36:99 -chr1 2966676 rs1138513 T C 342.07 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.51;MQ=60.00;MQ0=0;OQ=1004.23;QD=15.45;SB=-395.31 GT:AD:DP:GL:GQ 0/1:29,36:64:-122.99,-19.29,-112.84:99 -chr1 2967377 rs2981855 A G 110.32 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=58.78;MQ0=0;OQ=2017.68;QD=35.40;SB=-766.96 GT:AD:DP:GL:GQ 1/1:0,57:57:-205.37,-17.17,-0.02:99 -chr1 2967903 rs2075969 G C 175.65 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=59.42;MQ0=0;OQ=486.84;QD=12.17;SB=-253.09 GT:AD:DP:GL:GQ 0/1:21,19:36:-62.83,-10.86,-80.92:99 -chr1 2969034 rs41315262 C T 141.67 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=60.00;MQ0=0;OQ=432.24;QD=14.90;SB=-163.20 GT:AD:DP:GL:GQ 0/1:14,15:28:-54.95,-8.44,-49.21:99 -chr1 2970137 rs2072732 T C 36.95 LowQual AC=1;AF=0.50;AN=2;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.39;MQ0=0;QD=4.11;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,4:7:-9.09,-2.11,-16.67:69.79 -chr1 2970438 . C T 1.69 PASS AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=60.00;MQ0=0;OQ=106.79;QD=5.62;SB=-10.00 GT:AD:DP:GL:GQ 0/1:13,5:16:-18.78,-4.82,-35.96:99 -chr1 2973178 rs2788091 T C 354.06 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.65;MQ=59.56;MQ0=0;OQ=657.96;QD=12.65;SB=-286.58 GT:AD:DP:GL:GQ 0/1:29,23:52:-84.74,-15.66,-115.27:99 -chr1 2973823 rs2297828 G A 18.50 PASS AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=95.21;QD=3.97;SB=-16.50 GT:AD:DP:GL:GQ 0/1:18,6:22:-19.43,-6.63,-57.66:99 -chr1 2975672 . C G 0.31 PASS AC=2;AF=1.00;AN=2;DP=9;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=60.00;MQ0=0;OQ=69.47;QD=7.72;SB=-10.00 GT:AD:DP:GL:GQ 1/1:3,6:3:-10.44,-0.91,-0.01:9.02 -chr1 2977743 rs909510 G C 79.39 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=3.50;MQ=58.73;MQ0=0;OQ=593.38;QD=17.98;SB=-309.99 GT:AD:DP:GL:GQ 0/1:15,18:31:-71.97,-9.35,-58.08:99 -chr1 2979403 rs1572656 T G 132.71 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=58.39;MQ0=0;OQ=227.87;QD=7.86;SB=-74.87 GT:AD:DP:GL:GQ 0/1:16,12:27:-34.21,-8.14,-59.65:99 -chr1 2982894 rs2981889 T C 0.49 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=4;HaplotypeScore=3.40;MQ=59.07;MQ0=0;OQ=530.79;QD=10.62;SB=-197.61 GT:AD:DP:GL:GQ 0/1:25,25:44:-69.63,-13.27,-84.86:99 -chr1 2983498 rs2993486 G A 189.84 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=59.11;MQ0=0;OQ=2009.66;QD=38.65;SB=-804.34 GT:AD:DP:GL:GQ 1/1:0,52:51:-204.56,-15.36,-0.01:99 -chr1 2983667 rs2981888 C G 249.66 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=60.00;MQ0=0;OQ=760.63;QD=16.54;SB=-378.87 GT:AD:DP:GL:GQ 0/1:20,26:44:-92.63,-13.28,-85.11:99 -chr1 2984196 rs4648359 G C 304.72 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.03;MQ=59.62;MQ0=0;OQ=739.36;QD=15.09;SB=-327.39 GT:AD:DP:GL:GQ 0/1:26,23:45:-90.79,-13.57,-98.24:99 -chr1 2984400 rs2788092 C G 25.02 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=59.57;MQ0=0;OQ=997.66;QD=18.48;SB=-280.54 GT:AD:DP:GL:GQ 0/1:23,31:51:-118.43,-15.38,-97.87:99 -chr1 2985122 rs2742689 T G 341.54 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=58.79;MQ0=0;OQ=737.00;QD=13.65;SB=-353.07 GT:AD:DP:GL:GQ 0/1:26,28:52:-92.65,-15.66,-91.92:99 -chr1 2985309 rs7515436 G A 254.33 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=59.36;MQ0=0;OQ=1107.59;QD=17.04;SB=-525.74 GT:AD:DP:GL:GQ 0/1:30,35:61:-132.42,-18.38,-99.41:99 -chr1 2985493 rs2788093 C T 164.52 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.49;MQ=52.54;MQ0=0;OQ=672.12;QD=14.61;SB=-188.18 GT:AD:DP:GL:GQ 0/1:25,21:45:-84.06,-13.57,-76.74:99 -chr1 2985947 . G A 42.58 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=2.35;MQ=59.42;MQ0=0;QD=1.06;SB=86.29 GT:AD:DP:GL:GQ 0/1:35,5:38:-18.99,-11.45,-122.25:75.41 -chr1 2986056 rs7525173 C G 198.19 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=57.11;MQ0=0;OQ=1235.82;QD=21.68;SB=-610.55 GT:AD:DP:GL:GQ 0/1:22,35:54:-143.14,-16.27,-91.10:99 -chr1 2986416 rs1569420 C G 131.69 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.22;MQ0=0;OQ=1047.24;QD=19.39;SB=-356.09 GT:AD:DP:GL:GQ 0/1:24,30:53:-123.98,-15.97,-102.98:99 -chr1 2986462 rs1569419 T C 443.07 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=1686.91;QD=29.59;SB=-810.28 GT:AD:DP:GL:GQ 1/1:0,57:54:-172.33,-16.29,-0.05:99 -chr1 2988794 rs2742686 T C 110.98 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=3.81;MQ=59.55;MQ0=0;OQ=633.23;QD=12.42;SB=-265.98 GT:AD:DP:GL:GQ 0/1:26,25:48:-81.08,-14.47,-95.70:99 -chr1 2988858 rs10909873 C G 203.72 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.25;MQ=59.51;MQ0=0;OQ=629.03;QD=13.38;SB=-304.03 GT:AD:DP:GL:GQ 0/1:24,23:43:-79.16,-12.98,-98.92:99 -chr1 2988928 rs2981886 T G 27.89 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=1.77;MQ=60.00;MQ0=0;OQ=713.08;QD=17.39;SB=-342.06 GT:AD:DP:GL:GQ 0/1:16,25:41:-86.94,-12.35,-58.67:99 -chr1 2989062 rs2742685 T C 91.91 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=3.60;MQ=59.38;MQ0=0;OQ=332.13;QD=8.98;SB=-168.61 GT:AD:DP:GL:GQ 0/1:21,16:36:-47.35,-10.86,-77.27:99 -chr1 2989275 rs760570 T C 183.83 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=1.10;MQ=60.00;MQ0=0;OQ=452.99;QD=11.62;SB=-195.61 GT:AD:DP:GL:GQ 0/1:18,21:37:-59.74,-11.16,-71.21:99 -chr1 2989352 rs11580403 C T 17.69 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=6.35;MQ=58.51;MQ0=0;OQ=786.31;QD=16.73;SB=-390.18 GT:AD:DP:GL:GQ 0/1:22,25:44:-95.18,-13.26,-64.65:99 -chr1 2989378 rs11581212 A G 26.01 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=4.12;MQ=58.01;MQ0=0;OQ=610.70;QD=12.99;SB=-220.27 GT:AD:DP:GL:GQ 0/1:23,24:41:-76.70,-12.35,-80.42:99 -chr1 2989575 rs6674036 G T 86.25 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.44;MQ=60.00;MQ0=0;OQ=295.75;QD=8.45;SB=-112.67 GT:AD:DP:GL:GQ 0/1:22,13:32:-42.50,-9.64,-70.40:99 -chr1 2989750 rs6683976 C G 152.72 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.65;MQ=58.25;MQ0=0;OQ=588.86;QD=14.72;SB=-197.30 GT:AD:DP:GL:GQ 0/1:21,19:38:-73.63,-11.46,-80.42:99 -chr1 2989984 rs760569 A G 0.34 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=3;HaplotypeScore=3.04;MQ=55.35;MQ0=1;OQ=203.26;QD=6.78;SB=-13.61 GT:AD:DP:GL:GQ 0/1:16,14:25:-31.15,-7.54,-61.01:99 -chr1 2990301 rs760568 A G 305.79 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=56.76;MQ0=0;OQ=713.37;QD=13.99;SB=-336.34 GT:AD:DP:GL:GQ 0/1:22,29:50:-89.69,-15.07,-88.33:99 -chr1 2990325 rs760567 A G 357.24 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=57.34;MQ0=0;OQ=769.95;QD=14.53;SB=-388.67 GT:AD:DP:GL:GQ 0/1:25,28:52:-95.94,-15.67,-100.59:99 -chr1 2990784 rs6695131 T C 278.73 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.71;MQ=59.69;MQ0=0;OQ=1038.17;QD=17.02;SB=-324.30 GT:AD:DP:GL:GQ 0/1:25,36:59:-124.87,-17.77,-99.97:99 -chr1 2991113 rs760566 T C 528.98 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.67;MQ0=0;OQ=1563.77;QD=31.91;SB=-755.58 GT:AD:DP:GL:GQ 1/1:0,49:46:-159.99,-13.86,-0.02:99 -chr1 2991563 rs6690540 C T 182.97 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=58.34;MQ0=0;OQ=662.57;QD=14.72;SB=-343.52 GT:AD:DP:GL:GQ 0/1:23,22:42:-82.21,-12.67,-65.85:99 -chr1 2991617 rs2742682 T C 232.59 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.38;MQ0=0;OQ=410.76;QD=11.10;SB=-215.29 GT:AD:DP:GL:GQ 0/1:16,19:33:-54.32,-9.96,-57.14:99 -chr1 2991708 rs2742681 T G 14.52 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=0.89;MQ=58.98;MQ0=0;OQ=365.17;QD=8.91;SB=-102.16 GT:AD:DP:GL:GQ 0/1:24,17:38:-51.25,-11.45,-78.22:99 -chr1 2992174 rs2742680 C G 300.14 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=1.13;MQ=58.66;MQ0=0;OQ=934.85;QD=17.98;SB=-447.39 GT:AD:DP:GL:GQ 0/1:22,30:49:-111.56,-14.79,-83.87:99 -chr1 2992195 rs2742679 C T 269.04 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=58.13;MQ0=0;OQ=860.87;QD=17.22;SB=-384.13 GT:AD:DP:GL:GQ 0/1:23,27:48:-103.84,-14.47,-74.36:99 -chr1 2992210 rs2742678 G A 296.42 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=57.39;MQ0=0;OQ=701.27;QD=15.58;SB=-336.35 GT:AD:DP:GL:GQ 0/1:23,22:43:-86.37,-12.96,-74.58:99 -chr1 2993392 rs11801109 G A 5.62 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=59.59;MQ0=0;OQ=759.83;QD=16.52;SB=-91.91 GT:AD:DP:GL:GQ 0/1:23,23:45:-92.82,-13.56,-77.23:99 -chr1 2993874 rs2981883 T C 12.34 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=4.37;MQ=58.95;MQ0=0;OQ=1316.25;QD=29.91;SB=-475.45 GT:AD:DP:GL:GQ 1/1:0,44:39:-135.23,-11.75,-0.02:99 -chr1 2994092 rs2981882 A G 168.83 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=59.63;MQ0=0;OQ=1897.54;QD=30.61;SB=-828.34 GT:AD:DP:GL:GQ 1/1:0,62:61:-193.40,-18.40,-0.06:99 -chr1 2994217 rs2981881 T C 270.84 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=58.88;MQ0=0;OQ=1946.57;QD=31.40;SB=-838.62 GT:AD:DP:GL:GQ 1/1:1,61:56:-198.26,-16.87,-0.02:99 -chr1 2994648 rs2981880 T C 6.41 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=4.30;MQ=56.36;MQ0=0;OQ=1597.03;QD=34.72;SB=-433.18 GT:AD:DP:GL:GQ 1/1:0,45:44:-163.30,-13.25,-0.01:99 -chr1 2994734 rs2981879 T C 43.37 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.75;MQ0=0;OQ=1057.22;QD=35.24;SB=-208.08 GT:AD:DP:GL:GQ 1/1:0,30:30:-109.32,-9.04,-0.01:90.26 -chr1 2994945 rs34014659 G A 271.04 PASS AC=1;AF=0.50;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=51.59;MQ0=1;OQ=187.11;QD=9.85;SB=-73.30 GT:AD:DP:GL:GQ 0/1:11,8:17:-27.12,-5.12,-33.00:99 -chr1 2995445 rs2981878 A G 132.19 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=56.06;MQ0=1;OQ=382.82;QD=11.96;SB=-131.28 GT:AD:DP:GL:GQ 0/1:16,16:31:-50.91,-9.34,-62.42:99 -chr1 2995487 rs6676479 G A 196.19 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=57.97;MQ0=1;OQ=534.41;QD=14.06;SB=-244.76 GT:AD:DP:GL:GQ 0/1:21,17:34:-66.98,-10.25,-53.48:99 -chr1 2995498 rs34884268 C T 260.47 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=626.01;QD=14.90;SB=-317.32 GT:AD:DP:GL:GQ 0/1:22,20:41:-78.24,-12.36,-68.94:99 -chr1 2995610 rs34782467 G A 183.72 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.56;MQ0=0;OQ=857.05;QD=16.48;SB=-325.85 GT:AD:DP:GL:GQ 0/1:26,26:50:-104.07,-15.08,-74.92:99 -chr1 2995991 rs926246 T C 314.46 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=57.39;MQ0=0;OQ=671.24;QD=12.43;SB=-260.51 GT:AD:DP:GL:GQ 0/1:30,24:53:-86.37,-15.96,-115.93:99 -chr1 2996058 rs926245 C A 105.01 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=53.36;MQ0=0;OQ=705.06;QD=12.82;SB=-99.80 GT:AD:DP:GL:GQ 0/1:29,26:52:-89.45,-15.66,-93.51:99 -chr1 2996143 rs926244 A G 215.10 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=3.07;MQ=58.61;MQ0=0;OQ=1978.79;QD=31.92;SB=-947.90 GT:AD:DP:GL:GQ 1/1:0,60:58:-201.49,-17.47,-0.03:99 -chr1 2996175 rs926243 T G 426.34 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.31;MQ0=0;OQ=690.75;QD=11.32;SB=-265.78 GT:AD:DP:GL:GQ 0/1:31,30:58:-89.83,-17.48,-108.47:99 -chr1 2996487 rs55932943 C T 3.20 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=10.54;MQ=58.03;MQ0=1;OQ=1021.25;QD=14.80;SB=-443.45 GT:AD:DP:GL:GQ 0/1:37,31:63:-124.40,-18.99,-104.76:99 -chr1 2996899 rs2817165 A G 93.99 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=1.58;MQ=58.80;MQ0=0;OQ=288.71;QD=8.25;SB=-166.95 GT:AD:DP:GL:GQ 0/1:21,13:29:-40.90,-8.74,-67.04:99 -chr1 2997535 rs34300623 G A 185.66 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=59.69;MQ0=0;OQ=968.84;QD=15.88;SB=-326.31 GT:AD:DP:GL:GQ 0/1:32,29:60:-118.25,-18.08,-106.92:99 -chr1 2997956 rs6693385 C T 247.24 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.12;MQ=59.55;MQ0=0;OQ=876.50;QD=17.19;SB=-364.90 GT:AD:DP:GL:GQ 0/1:22,29:45:-104.50,-13.57,-57.88:99 -chr1 2998547 rs2376820 C G 2318.28 Indel AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=17.39;MQ=51.50;MQ0=0;QD=40.67;SB=-1149.31 GT:AD:DP:GL:GQ 1/1:0,55:56:-238.28,-19.61,-2.86:99 -chr1 3000177 rs760565 A T 219.18 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=60.00;MQ0=0;OQ=708.84;QD=15.75;SB=-333.07 GT:AD:DP:GL:GQ 0/1:21,24:41:-86.52,-12.35,-66.91:99 -chr1 3001189 rs2981873 T C 24.60 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=57.66;MQ0=0;OQ=381.92;QD=12.73;SB=-154.31 GT:AD:DP:GL:GQ 0/1:16,14:30:-50.52,-9.04,-62.50:99 -chr1 3002186 rs12135325 T C 1.38 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=4.32;MQ=58.67;MQ0=0;OQ=210.96;QD=6.03;SB=-111.21 GT:AD:DP:GL:GQ 0/1:22,13:32:-34.02,-9.64,-84.87:99 -chr1 3002840 rs6666748 A G 255.15 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.28;MQ=60.00;MQ0=0;OQ=801.41;QD=14.84;SB=-400.31 GT:AD:DP:GL:GQ 0/1:21,33:50:-98.50,-15.08,-74.39:99 -chr1 3003005 rs2788097 A C 59.19 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=3.07;MQ=59.05;MQ0=0;OQ=463.07;QD=10.52;SB=-200.91 GT:AD:DP:GL:GQ 0/1:25,19:39:-61.34,-11.75,-74.66:99 -chr1 3005383 rs2981870 G A 337.06 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.65;MQ=59.45;MQ0=0;OQ=532.89;QD=12.69;SB=-258.26 GT:AD:DP:GL:GQ 0/1:23,19:40:-68.63,-12.06,-71.78:99 -chr1 3005452 rs55674255 C T 63.22 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=3.20;MQ=60.00;MQ0=0;OQ=640.76;QD=14.56;SB=-293.19 GT:AD:DP:GL:GQ 0/1:24,20:44:-80.62,-13.26,-82.30:99 -chr1 3005702 rs55784774 G A 50.92 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=2.79;MQ=59.56;MQ0=0;OQ=701.05;QD=13.23;SB=-358.53 GT:AD:DP:GL:GQ 0/1:30,23:49:-88.16,-14.77,-89.46:99 -chr1 3005947 . C T 228.82 PASS AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.77;MQ0=0;OQ=514.40;QD=13.54;SB=-233.73 GT:AD:DP:GL:GQ 0/1:21,17:37:-65.88,-11.16,-63.18:99 -chr1 3005977 . G A 25.43 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=57.94;MQ0=0;OQ=561.32;QD=13.69;SB=-151.18 GT:AD:DP:GL:GQ 0/1:21,20:37:-70.56,-11.15,-69.03:99 -chr1 3006143 rs2981869 C T 155.48 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=58.84;MQ0=0;OQ=588.68;QD=14.72;SB=-230.75 GT:AD:DP:GL:GQ 0/1:19,21:38:-73.61,-11.45,-64.86:99 -chr1 3007018 . G A 13.33 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=4.77;MQ=59.05;MQ0=0;OQ=465.01;QD=10.57;SB=-225.50 GT:AD:DP:GL:GQ 0/1:25,18:41:-64.52,-14.73,-86.50:99 -chr1 3008086 rs2993492 G A 197.87 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=59.53;MQ0=0;OQ=913.42;QD=18.64;SB=-406.43 GT:AD:DP:GL:GQ 0/1:20,29:46:-108.49,-13.86,-62.00:99 -chr1 3009487 rs12131890 G A 77.41 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.17;MQ0=0;OQ=935.16;QD=20.78;SB=-364.90 GT:AD:DP:GL:GQ 0/1:15,30:42:-109.46,-12.66,-48.94:99 -chr1 3010048 rs56029998 T C 182.76 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.92;MQ=59.24;MQ0=0;OQ=609.91;QD=11.09;SB=-261.57 GT:AD:DP:GL:GQ 0/1:31,24:54:-80.54,-16.27,-125.83:99 -chr1 3010106 rs2993493 C A 285.53 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=59.63;MQ0=0;OQ=789.70;QD=15.48;SB=-315.68 GT:AD:DP:GL:GQ 0/1:25,26:51:-97.62,-15.36,-86.35:99 -chr1 3010923 rs2993494 G A 362.80 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.94;MQ0=0;OQ=449.17;QD=13.21;SB=-177.14 GT:AD:DP:GL:GQ 0/1:18,16:33:-58.15,-9.95,-61.38:99 -chr1 3011156 rs55898371 A C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=5;HaplotypeScore=4.00;MQ=58.74;MQ0=0;OQ=420.03;QD=11.35;SB=-193.92 GT:AD:DP:GL:GQ 0/1:18,19:33:-55.23,-9.95,-57.05:99 -chr1 3011412 rs12133978 G A 162.16 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=59.34;MQ0=0;OQ=429.68;QD=12.28;SB=-187.26 GT:AD:DP:GL:GQ 0/1:20,15:33:-56.20,-9.95,-61.55:99 -chr1 3011547 rs11808136 C T 5.88 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=1.91;MQ=59.52;MQ0=0;OQ=731.81;QD=18.76;SB=-195.18 GT:AD:DP:GL:GQ 0/1:16,23:36:-87.31,-10.85,-49.60:99 -chr1 3012571 rs2993495 A G 13.64 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=58.78;MQ0=0;OQ=549.01;QD=28.90;SB=-194.71 GT:AD:DP:GL:GQ 1/1:0,19:18:-58.50,-5.43,-0.01:54.13 -chr1 3012575 rs2993496 T C 83.64 PASS AC=1;AF=0.50;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=58.78;MQ0=0;OQ=196.75;QD=10.36;SB=-98.00 GT:AD:DP:GL:GQ 0/1:9,10:18:-28.39,-5.43,-32.68:99 -chr1 3012992 rs2993497 G A 7 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=1.90;MQ=59.59;MQ0=0;OQ=932.60;QD=20.72;SB=-424.82 GT:AD:DP:GL:GQ 0/1:16,29:42:-109.20,-12.66,-48.01:99 -chr1 3013111 rs56363358 C A 42.53 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=58.28;MQ0=0;OQ=749.52;QD=19.72;SB=-289.38 GT:AD:DP:GL:GQ 0/1:12,26:36:-89.08,-10.85,-37.10:99 -chr1 3013255 rs2993498 T C 497.69 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.78;MQ0=0;OQ=1211.16;QD=31.87;SB=-545.88 GT:AD:DP:GL:GQ 1/1:0,38:36:-124.72,-10.85,-0.02:99 -chr1 3013565 rs6667850 A C 171.48 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=59.41;MQ0=0;OQ=400.63;QD=10.27;SB=-101.88 GT:AD:DP:GL:GQ 0/1:20,19:37:-54.50,-11.15,-69.04:99 -chr1 3013819 rs1890337 A G 45.08 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=1.68;MQ=58.49;MQ0=0;OQ=1788.78;QD=31.38;SB=-712.22 GT:AD:DP:GL:GQ 1/1:0,56:52:-182.49,-15.67,-0.02:99 -chr1 3014125 rs1890336 A C 168.89 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=58.71;MQ0=0;OQ=1775.96;QD=32.89;SB=-886.08 GT:AD:DP:GL:GQ 1/1:0,54:51:-181.20,-15.36,-0.02:99 -chr1 3014227 rs2993499 T C 143.46 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=0.04;MQ=59.50;MQ0=0;OQ=1217.03;QD=32.89;SB=-587.31 GT:AD:DP:GL:GQ 1/1:0,37:36:-125.31,-10.85,-0.02:99 -chr1 3014565 rs2993500 C T 15.68 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=2;HaplotypeScore=4.44;MQ=59.65;MQ0=0;OQ=1234.24;QD=18.99;SB=-544.80 GT:AD:DP:GL:GQ 0/1:29,36:64:-145.99,-19.28,-92.77:99 -chr1 3015706 rs12137954 T A 122.03 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=57.40;MQ0=0;OQ=345.66;QD=6.91;SB=-177.77 GT:AD:DP:GL:GQ 0/1:35,15:48:-52.31,-14.46,-129.85:99 -chr1 3015846 rs2993501 A C 217.20 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.65;MQ=57.44;MQ0=0;OQ=1649.50;QD=29.99;SB=-596.80 GT:AD:DP:GL:GQ 1/1:0,55:53:-168.59,-15.98,-0.05:99 -chr1 3015960 rs12135664 C T 346.44 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.35;MQ=60.00;MQ0=0;OQ=1146.10;QD=16.85;SB=-550.79 GT:AD:DP:GL:GQ 0/1:34,34:67:-138.08,-20.19,-108.20:99 -chr1 3016120 rs2981868 T A 119.84 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=4.10;MQ=59.44;MQ0=0;OQ=1114.65;QD=15.06;SB=-570.99 GT:AD:DP:GL:GQ 0/1:37,36:67:-134.93,-20.18,-118.55:99 -chr1 3016369 rs59909070 G A 353.97 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.69;MQ0=0;OQ=434.09;QD=10.10;SB=-171.10 GT:AD:DP:GL:GQ 0/1:27,16:42:-59.35,-12.65,-95.52:99 -chr1 3016502 . T C 0.18 PASS AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=2;HaplotypeScore=5.91;MQ=44.72;MQ0=3;OQ=351.94;QD=7.65;SB=-166.48 GT:AD:DP:GL:GQ 0/1:25,21:36:-49.33,-10.85,-81.52:99 -chr1 3016606 . A C 15.74 PASS AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=3.75;MQ=48.95;MQ0=1;OQ=373.22;QD=9.82;SB=-133.20 GT:AD:DP:GL:GQ 0/1:18,17:27:-48.74,-8.13,-43.17:99 -chr1 3016839 rs56010213 A T 12.71 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=38.33;MQ0=7;QD=0.33;SB=20.09 GT:AD:DP:GL:GQ 0/1:34,5:23:-11.46,-6.93,-70.69:45.31 -chr1 3017201 rs2993502 C T 589.72 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.38;MQ0=0;OQ=2029.57;QD=38.29;SB=-936.75 GT:AD:DP:GL:GQ 1/1:0,53:51:-206.56,-15.36,-0.01:99 -chr1 3017765 . T C 156.29 PASS AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.89;MQ0=0;OQ=257.37;QD=12.26;SB=-133.69 GT:AD:DP:GL:GQ 0/1:7,14:18:-34.45,-5.43,-28.78:99 -chr1 3017780 . C T 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=1;HaplotypeScore=2.01;MQ=59.03;MQ0=0;OQ=567.81;QD=23.66;SB=-154.18 GT:AD:DP:GL:GQ 0/1:6,18:22:-66.70,-6.63,-18.59:99 -chr1 3018779 rs11808946 C T 272.66 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=60.00;MQ0=0;OQ=781.20;QD=16.62;SB=-355.56 GT:AD:DP:GL:GQ 0/1:22,25:44:-94.67,-13.26,-66.92:99 -chr1 3018847 rs2993503 A G 82.10 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=59.16;MQ0=0;OQ=1494.14;QD=27.17;SB=-767.73 GT:AD:DP:GL:GQ 1/1:0,55:49:-153.05,-14.78,-0.05:99 -chr1 3018941 rs2072733 C T 12.61 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=2;HaplotypeScore=2.15;MQ=59.46;MQ0=0;OQ=605.93;QD=14.09;SB=-165.23 GT:AD:DP:GL:GQ 0/1:22,21:41:-76.24,-12.36,-69.17:99 -chr1 3019072 rs10909875 C T 272.35 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.03;MQ0=0;OQ=534.00;QD=11.12;SB=-208.44 GT:AD:DP:GL:GQ 0/1:28,20:45:-70.25,-13.56,-92.78:99 -chr1 3019517 rs12136745 G A 248.92 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=59.62;MQ0=0;OQ=984.07;QD=16.40;SB=-470.51 GT:AD:DP:GL:GQ 0/1:28,32:55:-118.26,-16.57,-87.88:99 -chr1 3019842 rs58968988 G A 56.19 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=4.37;MQ=58.92;MQ0=0;OQ=590.92;QD=13.74;SB=-159.22 GT:AD:DP:GL:GQ 0/1:22,21:39:-74.13,-11.75,-67.01:99 -chr1 3020484 rs2981867 G C 387.41 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.97;MQ0=0;OQ=547.74;QD=12.17;SB=-190.58 GT:AD:DP:GL:GQ 0/1:29,16:44:-71.32,-13.26,-119.60:99 -chr1 3020597 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=37.34;MQ=39.25;MQ0=1;OQ=144.44;QD=4.25;SB=-87.67 GT:AD:DP:GL:GQ 0/1:24,10:27:-25.87,-8.14,-74.17:99 -chr1 3020599 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=45.49;MQ=39.25;MQ0=1;OQ=360.48;QD=10.60;SB=-127.10 GT:AD:DP:GL:GQ 0/1:21,13:31:-48.68,-9.35,-60.35:99 -chr1 3020611 . A G 19.24 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=21.97;MQ=37.81;MQ0=1;QD=0.62;SB=-30.78 GT:AD:DP:GL:GQ 0/1:24,7:24:-12.43,-7.23,-80.13:52.02 -chr1 3020613 rs6691894 A G 41.97 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=22.61;MQ=37.81;MQ0=1;QD=1.35;SB=-10.86 GT:AD:DP:GL:GQ 0/1:24,7:20:-13.51,-6.02,-64.69:74.80 -chr1 3020615 rs6691895 A G 400.54 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=24.36;MQ=38.97;MQ0=1;QD=12.92;SB=-173.99 GT:AD:DP:GL:GQ 0/1:14,17:24:-50.58,-7.24,-30.30:99 -chr1 3020629 . A G 22.23 LowQual AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=0;HaplotypeScore=19.42;MQ=38.02;MQ0=1;QD=0.85;SB=-32.78 GT:AD:DP:GL:GQ 0/1:21,5:22:-12.14,-6.63,-70.51:55.04 -chr1 3020688 rs6691996 A G 381.91 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.90;MQ0=0;OQ=370.45;QD=11.58;SB=-184.01 GT:AD:DP:GL:GQ 0/1:14,18:30:-49.38,-9.05,-56.94:99 -chr1 3020691 rs6695017 T C 343.03 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.28;MQ0=0;OQ=495.78;QD=14.58;SB=-192.66 GT:AD:DP:GL:GQ 0/1:16,18:34:-63.11,-10.25,-58.83:99 -chr1 3020744 rs6687292 C T 95.65 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=3.34;MQ=56.56;MQ0=0;OQ=522.71;QD=9.33;SB=-137.11 GT:AD:DP:GL:GQ 0/1:34,22:53:-71.53,-15.97,-120.29:99 -chr1 3020924 rs2981866 G A 33.28 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=57.17;MQ0=0;OQ=1933.34;QD=38.67;SB=-489.14 GT:AD:DP:GL:GQ 1/1:0,50:49:-196.94,-14.76,-0.02:99 -chr1 3020982 rs10909876 A G 347.22 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=54.47;MQ0=0;OQ=796.80;QD=13.06;SB=-340.94 GT:AD:DP:GL:GQ 0/1:29,32:61:-101.36,-18.40,-112.11:99 -chr1 3020998 rs10909877 T A 2173.88 Indel AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=54.79;MQ0=0;QD=36.23;SB=-1033.22 GT:AD:DP:GL:GQ 1/1:0,60:59:-220.99,-17.77,-0.02:99 -chr1 3021182 . G A 53.76 PASS AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.49;MQ=59.25;MQ0=0;OQ=405.03;QD=13.07;SB=-180.66 GT:AD:DP:GL:GQ 0/1:18,13:30:-52.83,-9.04,-54.54:99 -chr1 3022425 rs2981865 G C 1.40 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=57.81;MQ0=0;OQ=743.56;QD=24.79;SB=-346.46 GT:AD:DP:GL:GQ 0/1:9,21:29:-86.39,-8.75,-34.33:99 -chr1 3024466 rs10909878 A G 299.96 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=58.18;MQ0=0;OQ=619.53;QD=13.18;SB=-324.31 GT:AD:DP:GL:GQ 0/1:20,27:45:-78.81,-13.57,-80.16:99 -chr1 3024530 rs12141827 T C 99.60 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=53.26;MQ0=0;OQ=329.91;QD=8.25;SB=-169.50 GT:AD:DP:GL:GQ 0/1:24,16:37:-47.43,-11.15,-87.85:99 -chr1 3025087 rs6690373 A G 254.01 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.67;MQ0=0;OQ=819.31;QD=14.63;SB=-343.19 GT:AD:DP:GL:GQ 0/1:23,33:54:-101.49,-16.28,-89.82:99 -chr1 3025597 rs2981864 A G 2.03 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=1.66;MQ=59.23;MQ0=0;OQ=762.15;QD=25.41;SB=-232.49 GT:AD:DP:GL:GQ 1/1:0,28:25:-82.46,-10.02,-2.66:73.60 -chr1 3025622 rs12409836 A G 68.57 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=58.74;MQ0=0;OQ=225.89;QD=6.11;SB=-44.83 GT:AD:DP:GL:GQ 0/1:23,14:30:-34.92,-9.04,-72.62:99 -chr1 3025639 rs2472822 C G 79.91 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.42;MQ0=0;OQ=1446.74;QD=36.17;SB=-602.98 GT:AD:DP:GL:GQ 1/1:0,40:36:-148.28,-10.86,-0.02:99 -chr1 3027473 rs876740 C T 271.81 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=60.00;MQ0=0;OQ=2215.19;QD=38.19;SB=-1128.00 GT:AD:DP:GL:GQ 1/1:0,58:56:-225.12,-16.87,-0.02:99 -chr1 3028483 rs2742672 A G 23.82 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.51;MQ0=0;OQ=1087.23;QD=28.61;SB=-502.17 GT:AD:DP:GL:GQ 1/1:0,38:36:-112.35,-10.86,-0.04:99 -chr1 3029008 rs2817171 C A 191.92 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.83;MQ=59.65;MQ0=0;OQ=733.04;QD=13.57;SB=-391.11 GT:AD:DP:GL:GQ 0/1:29,25:54:-92.85,-16.26,-102.92:99 -chr1 3030045 rs2981863 G C 66.05 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=59.63;MQ0=0;OQ=889.03;QD=17.78;SB=-256.52 GT:AD:DP:GL:GQ 0/1:23,27:46:-106.06,-13.87,-86.32:99 -chr1 3030624 rs2012731 G A 16.06 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=4.70;MQ=59.61;MQ0=0;OQ=1536.02;QD=32.00;SB=-433.32 GT:AD:DP:GL:GQ 1/1:0,48:41:-157.21,-12.36,-0.02:99 -chr1 3031379 rs2817172 T C 144.04 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=60.00;MQ0=0;OQ=1381.66;QD=30.70;SB=-636.88 GT:AD:DP:GL:GQ 1/1:0,45:44:-141.79,-13.27,-0.04:99 -chr1 3032241 rs2472820 G A 108.60 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=58.74;MQ0=0;OQ=572.26;QD=15.47;SB=-176.66 GT:AD:DP:GL:GQ 0/1:19,18:36:-71.36,-10.85,-60.89:99 -chr1 3032694 . C T 55.78 PASS AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=60.00;MQ0=0;OQ=546.49;QD=14.77;SB=-205.90 GT:AD:DP:GL:GQ 0/1:19,18:36:-68.78,-10.85,-58.80:99 -chr1 3033426 rs12410830 A G 6.05 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=3;HaplotypeScore=3.60;MQ=59.16;MQ0=0;OQ=614.56;QD=12.29;SB=-235.29 GT:AD:DP:GL:GQ 0/1:27,23:49:-79.50,-14.76,-107.00:99 -chr1 3034041 rs2817174 T C 277.92 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.38;MQ0=0;OQ=1499.60;QD=26.78;SB=-664.93 GT:AD:DP:GL:GQ 1/1:0,56:48:-153.59,-14.48,-0.05:99 -chr1 3034512 rs35529420 C T 72.11 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=4.41;MQ=59.18;MQ0=0;OQ=899.04;QD=15.77;SB=-264.19 GT:AD:DP:GL:GQ 0/1:27,29:53:-109.16,-15.97,-86.82:99 -chr1 3034731 rs35951269 T C 58.31 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=2.40;MQ=58.97;MQ0=0;OQ=780.41;QD=12.39;SB=-339.30 GT:AD:DP:GL:GQ 0/1:36,27:63:-100.30,-18.98,-146.89:99 -chr1 3035225 rs2742670 A G 75.82 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=1.62;MQ=60.00;MQ0=0;OQ=1811.56;QD=33.55;SB=-920.03 GT:AD:DP:GL:GQ 1/1:0,54:51:-184.76,-15.36,-0.02:99 -chr1 3035475 rs2817175 T C 135.77 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=57.17;MQ0=0;OQ=1487.18;QD=29.74;SB=-663.57 GT:AD:DP:GL:GQ 1/1:0,50:49:-152.36,-14.79,-0.06:99 -chr1 3035871 rs2817176 A G 10.06 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=4.69;MQ=58.80;MQ0=0;OQ=1642.91;QD=28.33;SB=-799.47 GT:AD:DP:GL:GQ 1/1:0,58:54:-167.94,-16.30,-0.07:99 -chr1 3036323 rs2817177 T C 492.31 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.36;MQ0=0;OQ=1385.60;QD=34.64;SB=-536.41 GT:AD:DP:GL:GQ 1/1:0,40:39:-142.16,-11.75,-0.01:99 -chr1 3036571 rs35625823 T G 1.28 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.02;HRun=1;HaplotypeScore=8.04;MQ=58.17;MQ0=0;OQ=682.10;QD=13.37;SB=-105.91 GT:AD:DP:GL:GQ 0/1:25,25:50:-86.26,-14.76,-86.59:99 -chr1 3036686 rs35201154 G T 212.09 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=58.64;MQ0=0;OQ=542.18;QD=11.30;SB=-157.49 GT:AD:DP:GL:GQ 0/1:27,21:48:-71.97,-14.46,-93.11:99 -chr1 3037032 rs2788086 A G 87.83 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=59.14;MQ0=0;OQ=1440.07;QD=26.67;SB=-745.96 GT:AD:DP:GL:GQ 1/1:1,53:49:-151.81,-14.78,-4.21:99 -chr1 3037112 rs2817178 T C 138.65 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=1.50;MQ=59.01;MQ0=0;OQ=1783.83;QD=33.66;SB=-780.99 GT:AD:DP:GL:GQ 1/1:0,53:51:-182.00,-15.37,-0.03:99 -chr1 3037307 rs10797378 T C 263.69 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.49;MQ=57.77;MQ0=0;OQ=673.03;QD=12.02;SB=-270.24 GT:AD:DP:GL:GQ 0/1:24,31:50:-85.66,-15.07,-91.32:99 -chr1 3037312 rs2788087 A G 5.84 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=3;HaplotypeScore=4.61;MQ=57.43;MQ0=0;OQ=719.26;QD=12.40;SB=-323.12 GT:AD:DP:GL:GQ 0/1:28,30:54:-91.49,-16.28,-101.63:99 -chr1 3037323 rs10909881 G A 169.28 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=4.31;MQ=57.69;MQ0=0;OQ=859.60;QD=14.57;SB=-445.45 GT:AD:DP:GL:GQ 0/1:30,29:55:-105.83,-16.59,-85.38:99 -chr1 3038158 rs2817180 T C 101.32 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.60;MQ0=0;OQ=1662.63;QD=29.17;SB=-686.71 GT:AD:DP:GL:GQ 1/1:0,57:52:-169.90,-15.69,-0.05:99 -chr1 3038602 rs35360783 A G 220.53 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.65;MQ0=0;OQ=463.18;QD=8.74;SB=-235.89 GT:AD:DP:GL:GQ 0/1:32,21:53:-65.58,-15.98,-127.69:99 -chr1 3039222 rs12024620 C T 40.79 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=4.42;MQ=59.20;MQ0=0;OQ=839.66;QD=14.48;SB=-156.21 GT:AD:DP:GL:GQ 0/1:32,26:56:-104.13,-16.88,-98.69:99 -chr1 3039241 rs12021948 G C 56.36 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.56;MQ0=0;OQ=946.79;QD=17.86;SB=-223.20 GT:AD:DP:GL:GQ 0/1:25,28:53:-113.94,-15.98,-109.97:99 -chr1 3039433 rs12740389 C T 216.94 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.36;MQ0=0;OQ=1244.61;QD=19.15;SB=-628.67 GT:AD:DP:GL:GQ 0/1:28,37:63:-146.73,-18.98,-86.83:99 -chr1 3039715 rs35999894 C T 445.61 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1131.40;QD=18.86;SB=-581.12 GT:AD:DP:GL:GQ 0/1:26,34:58:-133.91,-17.48,-78.73:99 -chr1 3039945 rs34733164 A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=4;HaplotypeScore=2.38;MQ=59.17;MQ0=0;OQ=103.23;QD=3.69;SB=-48.95 GT:AD:DP:GL:GQ 0/1:18,10:23:-20.53,-6.93,-62.39:99 -chr1 3040081 rs12022170 G A 254.38 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.17;MQ0=0;OQ=717.02;QD=15.93;SB=-327.88 GT:AD:DP:GL:GQ 0/1:23,22:43:-87.95,-12.96,-65.92:99 -chr1 3040191 rs12028027 T C 223.73 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.03;MQ0=0;OQ=428.68;QD=8.93;SB=-212.28 GT:AD:DP:GL:GQ 0/1:28,20:45:-59.72,-13.57,-97.74:99 -chr1 3040222 rs12027117 A G 229.27 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=59.46;MQ0=0;OQ=557.56;QD=12.97;SB=-281.47 GT:AD:DP:GL:GQ 0/1:21,22:42:-71.69,-12.65,-82.66:99 -chr1 3040357 rs10909883 A G 344.92 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.62;MQ0=0;OQ=754.58;QD=12.37;SB=-348.58 GT:AD:DP:GL:GQ 0/1:28,33:59:-96.53,-17.79,-109.54:99 -chr1 3040454 rs12120879 C G 45.73 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=2.33;MQ=58.92;MQ0=0;OQ=1009.80;QD=18.03;SB=-357.43 GT:AD:DP:GL:GQ 0/1:27,29:53:-120.25,-15.98,-106.43:99 -chr1 3040798 rs35848773 T C 267.80 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.49;MQ=59.65;MQ0=0;OQ=685.07;QD=12.69;SB=-277.27 GT:AD:DP:GL:GQ 0/1:21,33:48:-86.26,-14.47,-82.32:99 -chr1 3040900 rs12731315 G C 3.75 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=3;HaplotypeScore=3.13;MQ=60.00;MQ0=0;OQ=656.27;QD=17.74;SB=-310.23 GT:AD:DP:GL:GQ 0/1:18,19:37:-80.07,-11.16,-76.94:99 -chr1 3041210 rs12724921 T A 454.48 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=611.82;QD=12.00;SB=-313.55 GT:AD:DP:GL:GQ 0/1:28,23:48:-78.92,-14.46,-101.94:99 -chr1 3041481 rs909509 A G 48.89 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=4.12;MQ=59.51;MQ0=0;OQ=373.32;QD=7.94;SB=-138.54 GT:AD:DP:GL:GQ 0/1:28,18:38:-52.08,-11.46,-81.04:99 -chr1 3041609 rs12725529 T C 111.43 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=58.62;MQ0=0;OQ=287.04;QD=7.76;SB=-113.62 GT:AD:DP:GL:GQ 0/1:21,16:34:-42.24,-10.25,-81.99:99 -chr1 3042125 rs7535865 A C 10.52 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=7.89;MQ=58.97;MQ0=0;OQ=623.66;QD=13.86;SB=-308.90 GT:AD:DP:GL:GQ 0/1:18,27:40:-77.70,-12.05,-63.90:99 -chr1 3042361 rs4648363 C T 227.69 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=59.42;MQ0=0;OQ=413.64;QD=10.34;SB=-159.64 GT:AD:DP:GL:GQ 0/1:26,14:37:-55.80,-11.16,-73.37:99 -chr1 3043023 rs35794895 G A 293.61 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=58.64;MQ0=0;OQ=693.50;QD=14.45;SB=-320.87 GT:AD:DP:GL:GQ 0/1:21,26:42:-85.30,-12.67,-60.57:99 -chr1 3043817 rs12741594 A T 497.03 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.30;MQ0=0;OQ=877.02;QD=14.62;SB=-406.56 GT:AD:DP:GL:GQ 0/1:31,29:60:-109.06,-18.07,-115.07:99 -chr1 3043966 rs2235176 T C 337.32 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=60.00;MQ0=0;OQ=677.48;QD=12.55;SB=-208.33 GT:AD:DP:GL:GQ 0/1:27,27:53:-87.00,-15.97,-104.05:99 -chr1 3044349 rs35877876 C T 270.74 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=59.61;MQ0=0;OQ=969.79;QD=16.44;SB=-358.48 GT:AD:DP:GL:GQ 0/1:30,29:59:-118.04,-17.77,-107.71:99 -chr1 3045481 rs10797379 T C 126.05 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=58.62;MQ0=0;OQ=1290.17;QD=29.32;SB=-604.23 GT:AD:DP:GL:GQ 1/1:0,44:42:-132.64,-12.67,-0.04:99 -chr1 3045736 rs10797380 A G 12.13 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=4.39;MQ=59.03;MQ0=0;OQ=1384.53;QD=28.84;SB=-697.60 GT:AD:DP:GL:GQ 1/1:0,48:44:-142.08,-13.27,-0.04:99 -chr1 3046509 rs7354964 C G 181.06 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.06;MQ0=0;OQ=756.10;QD=18.90;SB=-387.98 GT:AD:DP:GL:GQ 0/1:19,21:40:-90.95,-12.05,-80.97:99 -chr1 3047001 rs2817181 A G 378.95 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.74;MQ0=0;OQ=2402.64;QD=34.32;SB=-979.90 GT:AD:DP:GL:GQ 1/1:0,70:68:-243.87,-20.48,-0.03:99 -chr1 3047521 rs7538096 T C 291.96 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=59.64;MQ0=0;OQ=861.01;QD=13.45;SB=-250.18 GT:AD:DP:GL:GQ 0/1:31,33:64:-108.67,-19.29,-124.47:99 -chr1 3048093 rs2742666 T C 36.97 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=6.22;MQ=57.02;MQ0=0;OQ=594.94;QD=12.93;SB=-209.63 GT:AD:DP:GL:GQ 0/1:23,23:42:-75.43,-12.65,-85.93:99 -chr1 3048098 rs2742665 A C 100.54 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=57.17;MQ0=0;OQ=617.42;QD=15.44;SB=-256.42 GT:AD:DP:GL:GQ 0/1:17,23:38:-76.47,-11.45,-58.49:99 -chr1 3048109 rs2817183 A G 380.39 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.05;MQ0=0;OQ=578.38;QD=14.46;SB=-222.56 GT:AD:DP:GL:GQ 0/1:19,21:39:-72.87,-11.75,-75.47:99 -chr1 3048230 rs2817184 G A 543.37 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.51;MQ0=0;OQ=743.48;QD=15.82;SB=-334.86 GT:AD:DP:GL:GQ 0/1:23,24:46:-91.50,-13.86,-76.30:99 -chr1 3050041 rs6684093 C T 40.49 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=5.68;MQ=58.71;MQ0=0;OQ=937.27;QD=17.36;SB=-475.05 GT:AD:DP:GL:GQ 0/1:24,30:51:-112.38,-15.37,-76.51:99 -chr1 3051143 rs1875449 C A 6.39 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=5.78;MQ=59.44;MQ0=0;OQ=367.51;QD=8.96;SB=-206.89 GT:AD:DP:GL:GQ 0/1:23,18:37:-51.19,-11.15,-77.66:99 -chr1 3052735 rs2817187 G T 176.34 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.61;MQ0=0;OQ=2057.17;QD=34.87;SB=-1041.53 GT:AD:DP:GL:GQ 1/1:0,59:58:-209.32,-17.47,-0.02:99 -chr1 3066300 . C T 85.23 PASS AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=59.28;MQ0=0;OQ=957.84;QD=16.51;SB=-344.34 GT:AD:DP:GL:GQ 0/1:29,29:58:-116.54,-17.47,-102.34:99 -chr1 3068821 . G A 12.77 PASS AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=4.86;MQ=59.41;MQ0=0;OQ=492.51;QD=12.63;SB=-226.54 GT:AD:DP:GL:GQ 0/1:19,20:34:-62.79,-10.25,-59.33:99 -chr1 3069601 rs34175350 G C 4.56 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=15.60;MQ0=24;OQ=307.57;QD=4.16;SB=-10.00 GT:AD:DP:GL:GQ 0/1:61,13:26:-41.87,-7.83,-71.98:99 -chr1 3071991 . T C 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=1;HaplotypeScore=7.33;MQ=54.00;MQ0=2;OQ=261.16;QD=5.02;SB=-67.51 GT:AD:DP:GL:GQ 0/1:33,19:40:-41.45,-12.05,-111.58:99 -chr1 3072015 . C T 17.95 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=6.27;MQ=51.72;MQ0=4;QD=0.46;SB=-17.49 GT:AD:DP:GL:GQ 0/1:29,10:20:-11.10,-6.03,-56.69:50.72 -chr1 3077233 rs10909887 A T 53.28 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=3.52;MQ=59.65;MQ0=0;OQ=1671.94;QD=31.55;SB=-810.23 GT:AD:DP:GL:GQ 1/1:0,53:48:-170.81,-14.47,-0.03:99 -chr1 3078302 rs2817127 C G 3.71 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=0.67;MQ=58.92;MQ0=0;OQ=1590.78;QD=40.79;SB=-669.44 GT:AD:DP:GL:GQ 1/1:0,39:38:-162.68,-11.46,-0.02:99 -chr1 3078602 rs2651936 C T 556.62 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1763.78;QD=38.34;SB=-617.01 GT:AD:DP:GL:GQ 1/1:0,46:45:-179.97,-13.55,-0.01:99 -chr1 3078803 rs2817128 T C 41.66 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=3;HaplotypeScore=0.92;MQ=58.79;MQ0=0;OQ=1700.76;QD=31.50;SB=-627.85 GT:AD:DP:GL:GQ 1/1:0,54:53:-173.71,-15.98,-0.05:99 -chr1 3078920 rs2817129 G C 420.84 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2270.90;QD=42.85;SB=-927.24 GT:AD:DP:GL:GQ 1/1:0,53:53:-230.70,-15.98,-0.02:99 -chr1 3079836 rs3795268 G A 518.97 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2012.53;QD=38.70;SB=-765.66 GT:AD:DP:GL:GQ 1/1:0,52:51:-204.85,-15.36,-0.01:99 -chr1 3082486 rs61759169 A T 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=17.96;MQ=49.98;MQ0=1;OQ=467.66;QD=5.85;SB=-63.76 GT:AD:DP:GL:GQ 0/1:57,23:74:-72.34,-22.29,-212.74:99 -chr1 3082576 rs59307218 T C 89.31 Indel AC=1;AF=0.50;AN=2;DB;DP=106;Dels=0.00;HRun=1;HaplotypeScore=16.28;MQ=58.32;MQ0=0;QD=0.84;SB=-6.84 GT:AD:DP:GL:GQ 0/1:94,12:100:-42.34,-30.13,-353.31:99 -chr1 3082715 rs61759170 T C 0.15 PASS AC=1;AF=0.50;AN=2;DB;DP=94;Dels=0.00;HRun=1;HaplotypeScore=13.70;MQ=54.13;MQ0=0;OQ=433.59;QD=4.61;SB=-120.39 GT:AD:DP:GL:GQ 0/1:66,28:84:-71.95,-25.31,-255.13:99 -chr1 3082724 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=0;HaplotypeScore=20.17;MQ=53.56;MQ0=0;OQ=265.77;QD=3.09;SB=-1.90 GT:AD:DP:GL:GQ 0/1:64,21:77:-55.36,-25.50,-226.03:99 -chr1 3082730 rs61759171 A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=25.02;MQ=53.60;MQ0=0;OQ=115.19;QD=1.46;SB=35.65 GT:AD:DP:GL:GQ 0/1:62,16:69:-35.59,-20.79,-209.49:99 -chr1 3083610 rs2817131 T C 1.92 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=7.31;MQ=58.76;MQ0=0;OQ=2679.05;QD=35.25;SB=-1269.49 GT:AD:DP:GL:GQ 1/1:0,76:75:-271.51,-22.59,-0.03:99 -chr1 3086215 rs868718 G A 224.01 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=59.60;MQ0=0;OQ=2257.57;QD=38.92;SB=-929.74 GT:AD:DP:GL:GQ 1/1:0,58:57:-229.36,-17.17,-0.02:99 -chr1 3086338 rs2817132 T C 256.47 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.55;MQ0=0;OQ=1749.39;QD=34.30;SB=-792.14 GT:AD:DP:GL:GQ 1/1:0,51:49:-178.54,-14.76,-0.01:99 -chr1 3086971 . G A 6.54 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=1;HaplotypeScore=3.12;MQ=59.63;MQ0=0;OQ=869.92;QD=17.06;SB=-366.15 GT:AD:DP:GL:GQ 0/1:23,28:49:-105.05,-14.78,-70.17:99 -chr1 3087284 rs28576654 G A 0.62 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=8.45;MQ=55.21;MQ0=0;OQ=1827.21;QD=37.29;SB=-761.03 GT:AD:DP:GL:GQ 1/1:1,48:47:-186.32,-14.16,-0.02:99 -chr1 3087324 rs36042320 A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=36.16;MQ=53.71;MQ0=0;OQ=1199.13;QD=20.32;SB=-596.19 GT:AD:DP:GL:GQ 1/1:10,49:47:-136.03,-14.18,-12.56:16.27 -chr1 3087368 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=62.15;MQ=52.02;MQ0=2;OQ=84.05;QD=0.99;SB=68.22 GT:AD:DP:GL:GQ 0/1:64,20:65:-31.27,-19.58,-199.12:99 -chr1 3087405 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=124;Dels=0.00;HRun=0;HaplotypeScore=113.18;MQ=45.62;MQ0=12;OQ=152.20;QD=1.23;SB=83.17 GT:AD:DP:GL:GQ 0/1:93,25:100:-54.91,-36.41,-286.94:99 -chr1 3087421 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=108;Dels=0.01;HRun=1;HaplotypeScore=157.91;MQ=45.44;MQ0=13;OQ=317.87;QD=2.94;SB=62.22 GT:AD:DP:GL:GQ 0/1:65,42:72:-56.46,-21.39,-222.98:99 -chr1 3087430 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=100;Dels=0.09;HRun=0;HaplotypeScore=131.45;MQ=45.35;MQ0=13;OQ=71.40;QD=0.71;SB=68.23 GT:AD:DP:GL:GQ 0/1:57,34:61:-28.82,-18.40,-174.57:99 -chr1 3087432 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=0;HaplotypeScore=125.43;MQ=44.68;MQ0=16;OQ=349.00;QD=3.39;SB=68.23 GT:AD:DP:GL:GQ 0/1:85,18:67:-58.39,-20.20,-173.08:99 -chr1 3087446 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=0;HaplotypeScore=34.86;MQ=42.41;MQ0=15;OQ=253.15;QD=2.81;SB=53.16 GT:AD:DP:GL:GQ 0/1:47,43:54:-44.89,-16.29,-135.66:99 -chr1 3087456 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=0;HaplotypeScore=33.91;MQ=40.94;MQ0=15;OQ=574.41;QD=6.38;SB=41.15 GT:AD:DP:GL:GQ 0/1:47,43:59:-78.52,-17.79,-127.78:99 -chr1 3087469 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=37.75;MQ=38.93;MQ0=14;OQ=420.06;QD=4.94;SB=41.09 GT:AD:DP:GL:GQ 0/1:56,29:63:-64.29,-19.00,-146.93:99 -chr1 3087482 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=75.90;MQ=37.38;MQ0=13;OQ=93.48;QD=1.23;SB=56.14 GT:AD:DP:GL:GQ 0/1:55,21:54:-28.92,-16.29,-150.91:99 -chr1 3087484 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=59.86;MQ=36.69;MQ0=13;OQ=224.49;QD=2.95;SB=47.15 GT:AD:DP:GL:GQ 0/1:64,12:51:-41.12,-15.38,-130.32:99 -chr1 3087496 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=57;Dels=0.18;HRun=0;HaplotypeScore=92.35;MQ=35.16;MQ0=7;OQ=80.55;QD=1.41;SB=-35.75 GT:AD:DP:GL:GQ 0/1:30,16:29:-20.09,-8.75,-100.50:99 -chr1 3087498 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=70.78;MQ=33.76;MQ0=7;OQ=147.15;QD=2.58;SB=-95.04 GT:AD:DP:GL:GQ 0/1:41,16:33:-27.95,-9.95,-82.07:99 -chr1 3087509 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=61;Dels=0.05;HRun=0;HaplotypeScore=74.81;MQ=32.58;MQ0=5;OQ=64.70;QD=1.06;SB=56.11 GT:AD:DP:GL:GQ 0/1:52,6:35:-20.32,-10.56,-93.36:97.54 -chr1 3087512 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=54.96;MQ=31.97;MQ0=5;OQ=503.11;QD=8.11;SB=-236.10 GT:AD:DP:GL:GQ 0/1:31,31:45:-67.16,-13.57,-94.41:99 -chr1 3087536 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=0;HaplotypeScore=33.03;MQ=32.40;MQ0=3;OQ=59.37;QD=0.74;SB=89.25 GT:AD:DP:GL:GQ 0/1:72,7:63:-28.22,-18.99,-181.57:92.21 -chr1 3087538 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=0;HaplotypeScore=37.44;MQ=32.40;MQ0=3;OQ=247.27;QD=3.09;SB=80.25 GT:AD:DP:GL:GQ 0/1:65,15:63:-46.99,-18.98,-180.33:99 -chr1 3087608 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=168;Dels=0.01;HRun=0;HaplotypeScore=54.40;MQ=37.28;MQ0=13;OQ=1887.72;QD=11.24;SB=-729.24 GT:AD:DP:GL:GQ 0/1:104,63:145:-235.47,-43.42,-271.37:99 -chr1 3087617 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=185;Dels=0.00;HRun=0;HaplotypeScore=53.68;MQ=37.94;MQ0=15;OQ=1635.04;QD=8.84;SB=-493.28 GT:AD:DP:GL:GQ 0/1:114,71:160:-215.01,-48.22,-344.93:99 -chr1 3087664 . A G 18.84 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=189;Dels=0.01;HRun=0;HaplotypeScore=131.51;MQ=40.84;MQ0=15;QD=0.10;SB=241.96 GT:AD:DP:GL:GQ 0/1:170,18:163:-53.97,-48.81,-580.79:51.62 -chr1 3087667 . C T 165.92 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=188;Dels=0.01;HRun=0;HaplotypeScore=132.64;MQ=41.11;MQ0=15;QD=0.88;SB=179.60 GT:AD:DP:GL:GQ 0/1:167,20:158:-67.18,-47.30,-486.26:99 -chr1 3087668 . A G 310.08 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=187;Dels=0.01;HRun=1;HaplotypeScore=124.54;MQ=41.17;MQ0=15;QD=1.66;SB=124.04 GT:AD:DP:GL:GQ 0/1:158,28:160:-82.20,-47.90,-540.31:99 -chr1 3087734 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=114;Dels=0.00;HRun=1;HaplotypeScore=13.23;MQ=44.53;MQ0=2;OQ=55.34;QD=0.49;SB=-14.90 GT:AD:DP:GL:GQ 0/1:101,11:104:-40.16,-31.34,-369.37:88.18 -chr1 3087747 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=105;Dels=0.00;HRun=0;HaplotypeScore=23.95;MQ=43.49;MQ0=2;OQ=1649.29;QD=15.71;SB=-709.98 GT:AD:DP:GL:GQ 0/1:48,57:100:-198.34,-30.13,-180.84:99 -chr1 3087772 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=133;Dels=0.00;HRun=0;HaplotypeScore=99.40;MQ=37.75;MQ0=7;OQ=762.57;QD=5.73;SB=-239.63 GT:AD:DP:GL:GQ 0/1:102,30:117:-114.83,-35.29,-281.68:99 -chr1 3087833 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=152;Dels=0.00;HRun=1;HaplotypeScore=261.50;MQ=29.30;MQ0=7;OQ=1486.23;QD=9.78;SB=-676.51 GT:AD:DP:GL:GQ 0/1:100,52:130:-191.07,-39.17,-253.74:99 -chr1 3087850 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=146;Dels=0.00;HRun=0;HaplotypeScore=106.63;MQ=29.08;MQ0=7;OQ=1055.92;QD=7.23;SB=-459.23 GT:AD:DP:GL:GQ 0/1:100,46:125:-146.56,-37.68,-289.33:99 -chr1 3087853 . C A 11.81 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=148;Dels=0.00;HRun=0;HaplotypeScore=84.96;MQ=29.13;MQ0=6;QD=0.08;SB=22.69 GT:AD:DP:GL:GQ 0/1:134,14:133:-44.49,-40.06,-434.86:44.36 -chr1 3087861 . A C 168.29 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=135;Dels=0.00;HRun=0;HaplotypeScore=23.28;MQ=29.00;MQ0=4;QD=1.25;SB=-17.42 GT:AD:DP:GL:GQ 0/1:115,20:120:-56.26,-36.15,-379.05:99 -chr1 3087900 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=1;HaplotypeScore=22.94;MQ=28.28;MQ0=1;OQ=423.78;QD=5.81;SB=-214.40 GT:AD:DP:GL:GQ 0/1:51,22:68:-66.15,-20.49,-189.92:99 -chr1 3087911 . C T 880.08 SnpCluster AC=1;AF=0.50;AN=2;DP=69;Dels=0.03;HRun=0;HaplotypeScore=32.89;MQ=28.46;MQ0=0;QD=12.75;SB=-315.83 GT:AD:DP:GL:GQ 0/1:40,27:49:-105.45,-14.16,-69.50:99 -chr1 3087912 . A G 1267.81 SnpCluster AC=1;AF=0.50;AN=2;DP=68;Dels=0.03;HRun=1;HaplotypeScore=32.88;MQ=28.45;MQ0=0;QD=18.64;SB=-474.20 GT:AD:DP:GL:GQ 0/1:22,44:48:-143.92,-13.86,-20.32:64.59 -chr1 3087920 . G A 574.31 SnpCluster AC=1;AF=0.50;AN=2;DP=74;Dels=0.04;HRun=0;HaplotypeScore=182.60;MQ=28.60;MQ0=0;QD=7.76;SB=-289.69 GT:AD:DP:GL:GQ 0/1:50,21:71:-81.21,-20.50,-157.25:99 -chr1 3087952 . G A 1075.62 Indel AC=1;AF=0.50;AN=2;DP=79;Dels=0.00;HRun=0;HaplotypeScore=58.78;MQ=31.99;MQ0=0;QD=13.62;SB=-555.39 GT:AD:DP:GL:GQ 0/1:45,34:75:-133.45,-22.61,-136.49:99 -chr1 3087978 . A G 38.22 DPFilter;Indel;LowQual AC=1;AF=0.50;AN=2;DP=109;Dels=0.02;HRun=1;HaplotypeScore=54.40;MQ=36.04;MQ0=0;QD=0.35;SB=94.63 GT:AD:DP:GL:GQ 0/1:93,14:103:-37.54,-30.43,-360.90:71.06 -chr1 3088004 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=141;Dels=0.00;HRun=0;HaplotypeScore=30.72;MQ=40.10;MQ0=2;OQ=423.13;QD=3.00;SB=9.29 GT:AD:DP:GL:GQ 0/1:121,20:123:-82.68,-37.08,-335.63:99 -chr1 3088013 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=142;Dels=0.03;HRun=0;HaplotypeScore=47.98;MQ=41.19;MQ0=4;OQ=426.97;QD=3.01;SB=-54.18 GT:AD:DP:GL:GQ 0/1:112,26:133:-84.85,-38.87,-412.97:99 -chr1 3088015 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=145;Dels=0.00;HRun=0;HaplotypeScore=42.51;MQ=41.21;MQ0=4;OQ=465.21;QD=3.21;SB=-60.11 GT:AD:DP:GL:GQ 0/1:116,29:131:-89.28,-39.48,-409.01:99 -chr1 3088100 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=132;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=40.45;MQ0=11;OQ=130.52;QD=0.99;SB=-31.41 GT:AD:DP:GL:GQ 0/1:119,13:106:-48.30,-31.97,-302.63:99 -chr1 3088101 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=129;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=40.49;MQ0=10;OQ=71.07;QD=0.55;SB=-5.78 GT:AD:DP:GL:GQ 0/1:117,11:111:-47.37,-36.98,-326.83:99 -chr1 3088217 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=80;Dels=0.01;HRun=0;HaplotypeScore=17.08;MQ=42.86;MQ0=1;OQ=126.54;QD=1.58;SB=-85.23 GT:AD:DP:GL:GQ 0/1:66,13:74:-37.94,-22.00,-241.16:99 -chr1 3088220 rs34886760 A G 0.65 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.01;HRun=1;HaplotypeScore=12.97;MQ=43.96;MQ0=1;OQ=1584.16;QD=20.84;SB=-521.89 GT:AD:DP:GL:GQ 0/1:11,64:65:-181.29,-19.59,-39.63:99 -chr1 3088304 rs61759175 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=118;Dels=0.08;HRun=0;HaplotypeScore=55.59;MQ=46.00;MQ0=11;OQ=251.71;QD=2.13;SB=81.71 GT:AD:DP:GL:GQ 0/1:90,18:102:-58.89,-30.43,-301.97:99 -chr1 3088575 rs2817134 T C 3.03 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=5.64;MQ=59.45;MQ0=0;OQ=1472.39;QD=35.06;SB=-604.20 GT:AD:DP:GL:GQ 1/1:0,42:42:-150.84,-12.65,-0.02:99 -chr1 3088745 rs2651931 C T 32.64 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=1.49;MQ=59.44;MQ0=0;OQ=1502.67;QD=36.65;SB=-632.85 GT:AD:DP:GL:GQ 1/1:0,40:38:-153.86,-11.45,-0.01:99 -chr1 3088761 rs2817135 T C 98.95 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.39;MQ0=0;OQ=1114.54;QD=29.33;SB=-484.51 GT:AD:DP:GL:GQ 1/1:0,38:36:-115.07,-10.86,-0.04:99 -chr1 3089054 rs950200 A G 135.40 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.38;MQ0=0;OQ=1494.35;QD=33.21;SB=-586.20 GT:AD:DP:GL:GQ 1/1:0,45:43:-153.04,-12.95,-0.02:99 -chr1 3091593 rs9660914 G A 174.18 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.63;MQ0=0;OQ=2157.13;QD=34.24;SB=-1073.97 GT:AD:DP:GL:GQ 1/1:0,63:58:-219.33,-17.49,-0.04:99 -chr1 3093686 rs4233024 C T 199.19 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.75;MQ0=0;OQ=1964.65;QD=37.78;SB=-829.97 GT:AD:DP:GL:GQ 1/1:0,52:51:-200.08,-15.37,-0.03:99 -chr1 3094490 rs10752733 A G 125.27 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=1561.08;QD=30.61;SB=-635.88 GT:AD:DP:GL:GQ 1/1:0,51:49:-159.74,-14.78,-0.04:99 -chr1 3094942 rs2817136 G A 89.99 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=1690.06;QD=36.74;SB=-568.32 GT:AD:DP:GL:GQ 1/1:0,46:44:-172.61,-13.26,-0.02:99 -chr1 3095136 rs2817138 T G 4.52 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=58.92;MQ0=0;OQ=1072.43;QD=24.94;SB=-511.45 GT:AD:DP:GL:GQ 1/1:0,43:37:-110.87,-11.16,-0.04:99 -chr1 3095423 rs2651919 G T 722.39 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=2110.88;QD=35.78;SB=-952.39 GT:AD:DP:GL:GQ 1/1:0,59:58:-214.69,-17.47,-0.02:99 -chr1 3095697 rs2651918 T C 14.21 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=3.68;MQ=59.20;MQ0=0;OQ=1955.56;QD=33.72;SB=-956.98 GT:AD:DP:GL:GQ 1/1:0,58:55:-199.16,-16.57,-0.02:99 -chr1 3095769 rs2817139 A G 514.86 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.29;MQ0=0;OQ=1684.86;QD=27.18;SB=-755.66 GT:AD:DP:GL:GQ 1/1:0,62:53:-172.12,-15.99,-0.05:99 -chr1 3095922 rs7530075 G A 526.13 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=1784.81;QD=39.66;SB=-851.64 GT:AD:DP:GL:GQ 1/1:0,45:45:-182.08,-13.55,-0.01:99 -chr1 3096128 rs2651917 C G 97.32 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=58.80;MQ0=0;OQ=1717.27;QD=36.54;SB=-542.46 GT:AD:DP:GL:GQ 1/1:0,47:42:-175.34,-12.67,-0.03:99 -chr1 3096165 rs7545798 A G 335.50 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.06;MQ0=0;OQ=1218.45;QD=30.46;SB=-546.04 GT:AD:DP:GL:GQ 1/1:0,40:39:-125.47,-11.76,-0.04:99 -chr1 3096243 rs7545871 A G 179.87 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.45;MQ0=0;OQ=1274.76;QD=30.35;SB=-481.26 GT:AD:DP:GL:GQ 1/1:0,42:39:-131.09,-11.76,-0.02:99 -chr1 3096257 rs2651916 C T 670.34 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.07;MQ0=0;OQ=1810.18;QD=36.20;SB=-763.02 GT:AD:DP:GL:GQ 1/1:0,50:47:-184.62,-14.16,-0.02:99 -chr1 3096476 rs2817140 A G 6.35 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.36;MQ0=0;OQ=1038.30;QD=28.84;SB=-515.16 GT:AD:DP:GL:GQ 1/1:0,36:34:-107.45,-10.26,-0.04:99 -chr1 3096661 rs61759179 G A 1.83 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=5.55;MQ=53.62;MQ0=2;OQ=1172.74;QD=30.07;SB=-520.65 GT:AD:DP:GL:GQ 1/1:8,31:31:-120.87,-9.34,-0.01:93.29 -chr1 3096814 rs2817141 T C 22.79 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=1.30;MQ=59.19;MQ0=0;OQ=1269.17;QD=27.59;SB=-620.79 GT:AD:DP:GL:GQ 1/1:0,46:42:-130.56,-12.68,-0.06:99 -chr1 3097140 rs1875451 C T 277.41 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=59.63;MQ0=0;OQ=1807.86;QD=35.45;SB=-805.30 GT:AD:DP:GL:GQ 1/1:0,51:46:-184.39,-13.86,-0.02:99 -chr1 3098276 rs2651914 T G 143.53 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=0.87;MQ=60.00;MQ0=0;OQ=2148.66;QD=35.22;SB=-1029.38 GT:AD:DP:GL:GQ 1/1:0,61:61:-218.47,-18.37,-0.02:99 -chr1 3098356 rs10737190 G A 615.19 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.78;MQ0=0;OQ=3298.92;QD=39.75;SB=-1410.68 GT:AD:DP:GL:GQ 1/1:0,83:81:-328.89,-24.40,-0.02:99 -chr1 3098377 rs6685614 G A 280.84 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=59.78;MQ0=0;OQ=3233.06;QD=38.95;SB=-1261.68 GT:AD:DP:GL:GQ 1/1:0,83:82:-327.11,-24.71,-0.03:99 -chr1 3099011 rs7539775 G A 230.88 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=59.47;MQ0=0;OQ=1818.76;QD=34.98;SB=-678.01 GT:AD:DP:GL:GQ 1/1:1,51:49:-188.18,-14.77,-2.72:99 -chr1 3100277 rs2651913 C G 465.83 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1755.38;QD=41.79;SB=-899.81 GT:AD:DP:GL:GQ 1/1:0,42:41:-179.13,-12.35,-0.01:99 -chr1 3100595 rs2651912 T C 68.37 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=4.22;MQ=58.95;MQ0=0;OQ=646.58;QD=10.43;SB=-279.12 GT:AD:DP:GL:GQ 0/1:33,29:56:-84.82,-16.88,-119.30:99 -chr1 3104232 . G A 37.52 PASS AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=60.00;MQ0=0;OQ=572.60;QD=16.36;SB=-260.57 GT:AD:DP:GL:GQ 0/1:16,19:33:-70.49,-9.94,-51.89:99 -chr1 3105581 rs950449 C G 114.98 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=1.91;MQ=60.00;MQ0=0;OQ=352.20;QD=14.09;SB=-136.76 GT:AD:DP:GL:GQ 0/1:14,11:24:-45.74,-7.23,-56.39:99 -chr1 3106518 rs2651923 T C 555.63 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.18;MQ0=0;OQ=1262.70;QD=28.70;SB=-607.93 GT:AD:DP:GL:GQ 1/1:0,44:40:-129.89,-12.07,-0.04:99 -chr1 3110061 rs2817142 T C 84.27 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=58.76;MQ0=0;OQ=950.22;QD=27.95;SB=-463.20 GT:AD:DP:GL:GQ 1/1:1,33:31:-98.64,-9.35,-0.03:93.20 -chr1 3113619 rs2817143 T C 475.54 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.53;MQ0=0;OQ=1485.25;QD=30.31;SB=-541.01 GT:AD:DP:GL:GQ 1/1:0,49:46:-152.15,-13.87,-0.04:99 -chr1 3119305 . C T 6.85 PASS AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=2;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=482.22;QD=12.06;SB=-197.28 GT:AD:DP:GL:GQ 0/1:23,17:38:-62.96,-11.45,-76.10:99 -chr1 3119433 rs60892783 T A 341.04 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.85;MQ0=0;OQ=778.15;QD=15.26;SB=-381.44 GT:AD:DP:GL:GQ 0/1:26,25:51:-96.46,-15.36,-96.60:99 -chr1 3124191 rs12124147 C T 18.37 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=4;HaplotypeScore=1.41;MQ=60.00;MQ0=0;OQ=2106.36;QD=38.30;SB=-923.21 GT:AD:DP:GL:GQ 1/1:0,55:54:-214.24,-16.27,-0.02:99 -chr1 3125697 . G A 48.02 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=3.90;MQ=59.58;MQ0=0;OQ=894.40;QD=16.26;SB=-426.44 GT:AD:DP:GL:GQ 0/1:28,27:53:-108.70,-15.98,-81.48:99 -chr1 3133804 rs10737191 T C 216.08 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.05;MQ0=0;OQ=1310.90;QD=29.79;SB=-629.85 GT:AD:DP:GL:GQ 1/1:0,44:43:-134.73,-12.98,-0.05:99 -chr1 3137939 rs2651921 T C 31.09 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=1.62;MQ=57.88;MQ0=0;OQ=1318.12;QD=31.38;SB=-539.87 GT:AD:DP:GL:GQ 1/1:0,42:38:-135.41,-11.45,-0.01:99 -chr1 3139859 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=4;HaplotypeScore=1.59;MQ=58.84;MQ0=0;OQ=177.35;QD=4.43;SB=56.21 GT:AD:DP:GL:GQ 0/1:24,16:34:-31.27,-10.25,-94.47:99 -chr1 3140395 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=1;HaplotypeScore=11.19;MQ=58.95;MQ0=0;OQ=93.28;QD=2.12;SB=71.27 GT:AD:DP:GL:GQ 0/1:31,13:33:-22.56,-9.95,-125.01:99 -chr1 3146326 rs2455112 A G 135.43 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=2.76;MQ=60.00;MQ0=0;OQ=1096.93;QD=16.88;SB=-503.18 GT:AD:DP:GL:GQ 0/1:28,37:65:-132.56,-19.58,-110.95:99 -chr1 3151094 . T G 27.85 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=2;HaplotypeScore=10.51;MQ=58.72;MQ0=0;QD=0.55;SB=62.22 GT:AD:DP:GL:GQ 0/1:29,22:34:-16.31,-10.24,-101.82:60.68 -chr1 3154977 . C T 20.55 PASS AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=59.05;MQ0=0;OQ=960.26;QD=19.60;SB=-359.36 GT:AD:DP:GL:GQ 0/1:20,29:48:-113.77,-14.46,-73.03:99 -chr1 3155966 rs1105111 C A 740.08 Indel AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=6;HaplotypeScore=0.00;MQ=60.39;MQ0=0;QD=13.46;SB=-187.60 GT:AD:DP:GL:GQ 0/1:28,27:54:-93.56,-16.26,-102.62:99 -chr1 3156860 . C A 1.29 PASS AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=2;HaplotypeScore=2.70;MQ=59.41;MQ0=0;OQ=714.68;QD=18.33;SB=-335.33 GT:AD:DP:GL:GQ 0/1:15,24:39:-86.50,-11.75,-50.10:99 -chr1 3157063 rs60443258 C G 197.93 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.43;MQ0=0;OQ=467.30;QD=14.16;SB=-190.23 GT:AD:DP:GL:GQ 0/1:18,15:33:-59.97,-9.95,-75.73:99 -chr1 3158034 rs11589327 C T 221.90 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=55.82;MQ0=0;OQ=602.02;QD=14.68;SB=-226.92 GT:AD:DP:GL:GQ 0/1:22,19:39:-75.24,-11.75,-65.81:99 -chr1 3158063 rs61759183 G A 105.26 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.23;MQ=54.25;MQ0=0;OQ=859.64;QD=18.29;SB=-349.39 GT:AD:DP:GL:GQ 0/1:17,30:44:-102.53,-13.28,-49.01:99 -chr1 3158107 rs55987640 G A 184.91 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=55.61;MQ0=0;OQ=836.43;QD=16.73;SB=-292.80 GT:AD:DP:GL:GQ 0/1:21,29:42:-99.58,-12.65,-57.74:99 -chr1 3158110 rs10909910 G C 37.93 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=55.78;MQ0=0;OQ=2043.92;QD=39.31;SB=-983.24 GT:AD:DP:GL:GQ 1/1:0,52:49:-208.00,-14.77,-0.02:99 -chr1 3158140 rs10797386 A G 147.32 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=58.66;MQ0=0;OQ=1752.75;QD=33.71;SB=-820.65 GT:AD:DP:GL:GQ 1/1:0,52:49:-178.87,-14.76,-0.02:99 -chr1 3158322 rs12143201 C T 107.15 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=58.81;MQ0=0;OQ=1087.80;QD=19.78;SB=-426.85 GT:AD:DP:GL:GQ 0/1:23,32:54:-128.34,-16.28,-69.54:99 -chr1 3158948 rs7539489 G A 212.35 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.64;MQ=59.50;MQ0=0;OQ=701.66;QD=15.25;SB=-203.89 GT:AD:DP:GL:GQ 0/1:22,24:42:-86.11,-12.66,-64.73:99 -chr1 3160428 rs56015432 C G 319.35 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=42.71;MQ0=18;OQ=1056.37;QD=11.61;SB=-361.10 GT:AD:DP:GL:GQ 0/1:52,38:68:-131.78,-22.86,-160.18:99 -chr1 3160647 rs2376494 T C 490.07 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=51.54;MQ0=5;OQ=1049.98;QD=13.46;SB=-449.81 GT:AD:DP:GL:GQ 0/1:34,44:69:-129.08,-20.80,-121.01:99 -chr1 3160969 rs61691507 T C 83.17 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=3;HaplotypeScore=0.96;MQ=48.88;MQ0=0;OQ=936.08;QD=14.18;SB=-414.90 GT:AD:DP:GL:GQ 0/1:32,34:63:-115.87,-18.98,-126.60:99 -chr1 3161244 rs28883366 T C 328.67 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=20.07;MQ0=44;OQ=827.10;QD=11.18;SB=-204.07 GT:AD:DP:GL:GQ 1/1:25,49:28:-86.33,-8.45,-0.03:84.18 -chr1 3161789 rs4648464 G A 197.91 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.39;MQ=53.22;MQ0=0;OQ=1078.68;QD=20.35;SB=-414.45 GT:AD:DP:GL:GQ 0/1:21,32:51:-126.53,-15.37,-60.62:99 -chr1 3161922 rs4648465 G A 93.86 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=50.73;MQ0=0;OQ=1117.60;QD=22.35;SB=-454.98 GT:AD:DP:GL:GQ 0/1:18,32:50:-130.11,-15.06,-59.43:99 -chr1 3162133 rs2455100 T C 1.91 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=5.09;MQ=58.24;MQ0=0;OQ=1353.88;QD=28.21;SB=-366.45 GT:AD:DP:GL:GQ 1/1:0,48:45:-139.02,-13.58,-0.05:99 -chr1 3162911 rs6699624 G C 272.84 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.50;MQ0=0;OQ=1093.08;QD=16.07;SB=-449.43 GT:AD:DP:GL:GQ 0/1:32,35:63:-131.59,-19.00,-134.16:99 -chr1 3163088 rs1971330 C T 114.07 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=49.78;MQ0=0;OQ=900.72;QD=19.58;SB=-445.49 GT:AD:DP:GL:GQ 0/1:19,27:44:-106.61,-13.25,-68.73:99 -chr1 3163142 rs1971331 A G 155.18 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=39.25;MQ0=0;OQ=1400.23;QD=30.44;SB=-715.29 GT:AD:DP:GL:GQ 1/1:0,46:45:-143.65,-13.57,-0.04:99 -chr1 3165231 rs10909912 T G 383.69 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.06;MQ0=0;OQ=430.36;QD=10.76;SB=-234.78 GT:AD:DP:GL:GQ 0/1:20,20:39:-58.07,-11.75,-73.52:99 -chr1 3165588 rs2455101 A G 194.31 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=58.36;MQ0=0;OQ=514.34;QD=12.86;SB=-185.55 GT:AD:DP:GL:GQ 0/1:18,22:37:-65.87,-11.15,-65.63:99 -chr1 3165783 . C T 13.80 PASS AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=427.64;QD=9.30;SB=-160.18 GT:AD:DP:GL:GQ 0/1:30,16:42:-58.70,-12.66,-94.89:99 -chr1 3166230 . C G 139.63 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=825.87;QD=15.88;SB=-367.51 GT:AD:DP:GL:GQ 0/1:23,29:49:-100.65,-14.78,-100.14:99 -chr1 3167106 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=0;HaplotypeScore=181.43;MQ=36.47;MQ0=0;OQ=530.53;QD=4.31;SB=-209.32 GT:AD:DP:GL:GQ 0/1:66,39:92:-95.27,-38.93,-253.94:99 -chr1 3167116 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=174;Dels=0.01;HRun=1;HaplotypeScore=260.94;MQ=34.61;MQ0=0;OQ=942.41;QD=5.42;SB=-369.43 GT:AD:DP:GL:GQ 0/1:66,57:123:-208.12,-110.59,-323.19:99 -chr1 3167119 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=191;Dels=0.00;HRun=1;HaplotypeScore=217.51;MQ=34.08;MQ0=0;OQ=198.48;QD=1.04;SB=93.36 GT:AD:DP:GL:GQ 0/1:148,42:118:-61.70,-38.57,-398.62:99 -chr1 3167131 . G A 38.92 DPFilter;Indel;LowQual AC=1;AF=0.50;AN=2;DP=216;Dels=0.00;HRun=0;HaplotypeScore=418.78;MQ=33.67;MQ0=0;QD=0.18;SB=-15.26 GT:AD:DP:GL:GQ 0/1:171,44:118:-42.73,-35.55,-373.47:71.75 -chr1 3167160 . G A 609.50 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=190;Dels=0.00;HRun=0;HaplotypeScore=319.28;MQ=32.32;MQ0=1;QD=3.21;SB=-149.32 GT:AD:DP:GL:GQ 0/1:134,56:72:-85.93,-21.70,-173.92:99 -chr1 3167161 . T C 245.51 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=188;Dels=0.00;HRun=0;HaplotypeScore=318.96;MQ=32.30;MQ0=1;QD=1.31;SB=53.20 GT:AD:DP:GL:GQ 0/1:174,14:59:-45.63,-17.79,-171.10:99 -chr1 3167162 . G A 200.87 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=187;Dels=0.00;HRun=0;HaplotypeScore=336.60;MQ=32.32;MQ0=1;QD=1.07;SB=56.18 GT:AD:DP:GL:GQ 0/1:174,10:62:-51.08,-27.71,-180.52:99 -chr1 3167163 . G A 107.11 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=184;Dels=0.00;HRun=0;HaplotypeScore=325.93;MQ=32.20;MQ0=1;QD=0.58;SB=-62.93 GT:AD:DP:GL:GQ 0/1:163,18:64:-33.28,-19.29,-195.22:99 -chr1 3167166 . A G 243.37 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=179;Dels=0.00;HRun=1;HaplotypeScore=314.12;MQ=31.98;MQ0=1;QD=1.36;SB=56.35 GT:AD:DP:GL:GQ 0/1:138,41:62:-46.30,-18.68,-187.52:99 -chr1 3167169 . A G 120.84 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=185;Dels=0.00;HRun=1;HaplotypeScore=387.92;MQ=32.13;MQ0=1;QD=0.65;SB=76.41 GT:AD:DP:GL:GQ 0/1:141,44:79:-39.18,-23.81,-262.75:99 -chr1 3167180 rs57179041 G A 114.65 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=141;Dels=0.00;HRun=1;HaplotypeScore=408.58;MQ=31.71;MQ0=1;QD=0.81;SB=86.30 GT:AD:DP:GL:GQ 0/1:118,23:43:-27.70,-12.95,-132.25:99 -chr1 3167181 . A G 38.85 DPFilter;Indel;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=141;Dels=0.00;HRun=1;HaplotypeScore=419.93;MQ=31.63;MQ0=1;QD=0.28;SB=86.30 GT:AD:DP:GL:GQ 0/1:108,33:42:-19.82,-12.66,-143.77:71.68 -chr1 3167187 . T C 11.48 DPFilter;Indel;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=120;Dels=0.41;HRun=0;HaplotypeScore=330.20;MQ=31.90;MQ0=1;QD=0.10;SB=5.04 GT:AD:DP:GL:GQ 0/1:52,5:44:-17.05,-12.65,-148.02:44 -chr1 3167189 . G A 33.08 DPFilter;Indel;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=123;Dels=0.12;HRun=1;HaplotypeScore=208.65;MQ=32.18;MQ0=1;QD=0.27;SB=8.05 GT:AD:DP:GL:GQ 0/1:103,5:46:-20.45,-13.86,-154.58:65.91 -chr1 3167200 rs57648616 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=119;Dels=0.00;HRun=0;HaplotypeScore=125.27;MQ=33.30;MQ0=1;OQ=406.22;QD=3.41;SB=39.53 GT:AD:DP:GL:GQ 0/1:44,74:56:-63.73,-19.82,-152.72:99 -chr1 3167205 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=115;Dels=0.00;HRun=1;HaplotypeScore=95.81;MQ=33.44;MQ0=1;OQ=560.09;QD=4.87;SB=72.41 GT:AD:DP:GL:GQ 0/1:70,45:71:-80.68,-21.39,-190.32:99 -chr1 3167222 rs57879698 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=105.67;MQ=36.94;MQ0=1;OQ=371.38;QD=4.08;SB=65.41 GT:AD:DP:GL:GQ 0/1:54,36:67:-60.61,-20.18,-198.91:99 -chr1 3167226 . A G 25.97 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=1;HaplotypeScore=94.17;MQ=37.02;MQ0=1;QD=0.29;SB=104.36 GT:AD:DP:GL:GQ 0/1:77,13:68:-26.37,-20.49,-239.07:58.80 -chr1 3167247 . A G 94.62 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=1;HaplotypeScore=9.30;MQ=43.30;MQ0=0;QD=1.30;SB=66.40 GT:AD:DP:GL:GQ 0/1:60,13:64:-32.03,-19.29,-213.53:99 -chr1 3167248 rs61151413 C T 166.25 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=15.29;MQ=43.46;MQ0=0;QD=2.31;SB=80.73 GT:AD:DP:GL:GQ 0/1:59,13:65:-39.51,-19.60,-174.44:99 -chr1 3167253 . A G 43.60 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=78;Dels=0.00;HRun=1;HaplotypeScore=18.65;MQ=43.75;MQ0=0;QD=0.56;SB=110.39 GT:AD:DP:GL:GQ 0/1:68,10:69:-28.43,-20.79,-243.20:76.44 -chr1 3167258 . G A 29.42 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=78;Dels=0.00;HRun=1;HaplotypeScore=29.46;MQ=43.75;MQ0=0;QD=0.38;SB=107.33 GT:AD:DP:GL:GQ 0/1:71,7:70:-27.32,-21.09,-225.20:62.25 -chr1 3167340 rs3002685 A G 235.56 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=44.86;MQ0=0;OQ=812.94;QD=11.29;SB=-432.88 GT:AD:DP:GL:GQ 0/1:35,37:64:-103.87,-19.29,-131.86:99 -chr1 3167551 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=15;HaplotypeScore=12.64;MQ=52.48;MQ0=0;OQ=368.96;QD=5.95;SB=77.28 GT:AD:DP:GL:GQ 0/1:44,18:52:-55.84,-15.67,-137.44:99 -chr1 3168576 . C T 188.74 PASS AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.69;MQ0=0;OQ=823.49;QD=13.72;SB=-404.84 GT:AD:DP:GL:GQ 0/1:34,26:58:-103.11,-17.48,-109.21:99 -chr1 3169081 . C T 79.34 PASS AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=0;HaplotypeScore=3.08;MQ=59.66;MQ0=0;OQ=1096.77;QD=16.37;SB=-547.56 GT:AD:DP:GL:GQ 0/1:32,35:63:-131.94,-18.98,-108.41:99 -chr1 3169567 rs1501611 G A 10.13 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=8.26;MQ=58.29;MQ0=0;OQ=520.16;QD=12.69;SB=-281.22 GT:AD:DP:GL:GQ 0/1:21,20:36:-66.15,-10.85,-62.40:99 -chr1 3169746 rs2455106 G C 285.96 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.48;MQ0=0;OQ=1036.68;QD=23.56;SB=-535.79 GT:AD:DP:GL:GQ 0/1:15,29:43:-119.91,-12.96,-65.17:99 -chr1 3170018 rs2455107 T G 277.10 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=3.18;MQ=59.50;MQ0=0;OQ=669.75;QD=14.56;SB=-280.87 GT:AD:DP:GL:GQ 0/1:21,25:42:-82.91,-12.65,-66.12:99 -chr1 3170493 rs2455102 A G 356.81 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=58.62;MQ0=0;OQ=653.73;QD=10.21;SB=-205.32 GT:AD:DP:GL:GQ 0/1:37,27:63:-87.64,-18.99,-144.47:99 -chr1 3170958 . C T 1.10 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=5.86;MQ=59.55;MQ0=0;OQ=1035.67;QD=20.31;SB=-528.11 GT:AD:DP:GL:GQ 0/1:20,31:50:-121.92,-15.07,-64.72:99 -chr1 3171559 rs2500250 T C 389.53 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=60.00;MQ0=0;OQ=559.12;QD=10.55;SB=-252.33 GT:AD:DP:GL:GQ 0/1:30,23:52:-74.86,-15.66,-123.43:99 -chr1 3171782 rs10909913 A G 116.69 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=2.90;MQ=59.63;MQ0=0;OQ=1003.48;QD=15.93;SB=-509.29 GT:AD:DP:GL:GQ 0/1:27,35:61:-122.01,-18.38,-106.15:99 -chr1 3172391 rs2455096 A C 43.29 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=60.00;MQ0=0;OQ=287.98;QD=8.47;SB=-120.97 GT:AD:DP:GL:GQ 0/1:18,16:31:-41.43,-9.34,-63.22:99 -chr1 3172429 rs56042628 C T 96.48 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=60.00;MQ0=0;OQ=280.31;QD=9.34;SB=-80.59 GT:AD:DP:GL:GQ 0/1:19,11:28:-39.76,-8.44,-58.47:99 -chr1 3173020 rs2455094 G A 166.70 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.67;MQ=59.53;MQ0=0;OQ=444.07;QD=11.10;SB=-203.69 GT:AD:DP:GL:GQ 0/1:22,17:34:-57.94,-10.25,-64.34:99 -chr1 3173727 rs2455093 A G 256.03 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=832.24;QD=16.98;SB=-357.94 GT:AD:DP:GL:GQ 0/1:20,29:47:-100.67,-14.16,-75.12:99 -chr1 3174715 rs2455119 G T 285.04 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.49;MQ0=0;OQ=576.42;QD=12.81;SB=-209.45 GT:AD:DP:GL:GQ 0/1:23,22:42:-73.58,-12.65,-77.54:99 -chr1 3176001 . C T 83.35 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.70;MQ0=0;OQ=696.01;QD=13.92;SB=-293.84 GT:AD:DP:GL:GQ 0/1:26,23:46:-86.76,-13.88,-73.45:99 -chr1 3176267 . T G 76.55 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=1;HaplotypeScore=2.02;MQ=60.00;MQ0=0;OQ=841.56;QD=14.76;SB=-394.65 GT:AD:DP:GL:GQ 0/1:27,30:56:-104.31,-16.87,-93.27:99 -chr1 3177045 rs3002687 T G 225.19 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=1.21;MQ=59.59;MQ0=0;OQ=571.62;QD=12.43;SB=-258.88 GT:AD:DP:GL:GQ 0/1:24,22:45:-74.00,-13.56,-84.05:99 -chr1 3177468 . C T 3.04 PASS AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=59.42;MQ0=0;OQ=538.59;QD=16.83;SB=-100.92 GT:AD:DP:GL:GQ 0/1:14,18:31:-66.48,-9.34,-49.83:99 -chr1 3177939 rs2500308 A G 95.88 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=1.13;MQ=59.39;MQ0=0;OQ=763.00;QD=10.04;SB=-332.88 GT:AD:DP:GL:GQ 0/1:45,31:71:-100.98,-21.39,-171.46:99 -chr1 3178661 . G A 33.39 PASS AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=60.00;MQ0=0;OQ=796.34;QD=18.96;SB=-401.21 GT:AD:DP:GL:GQ 0/1:18,24:42:-95.58,-12.66,-58.00:99 -chr1 3178998 rs2455127 A G 173.30 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=58.67;MQ0=0;OQ=507.17;QD=14.49;SB=-257.35 GT:AD:DP:GL:GQ 0/1:11,24:30:-63.05,-9.05,-41.23:99 -chr1 3179379 . A G 65.56 PASS AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=58.32;MQ0=0;OQ=481.41;QD=12.34;SB=-241.93 GT:AD:DP:GL:GQ 0/1:18,21:37:-62.58,-11.16,-65.22:99 -chr1 3179574 rs2455128 A G 108.65 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=0.83;MQ=59.62;MQ0=0;OQ=838.70;QD=13.98;SB=-378.24 GT:AD:DP:GL:GQ 0/1:31,29:59:-104.93,-17.77,-121.27:99 -chr1 3179592 rs2500307 T A 726.45 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=2101.50;QD=36.23;SB=-987.86 GT:AD:DP:GL:GQ 1/1:0,58:58:-213.75,-17.47,-0.02:99 -chr1 3182386 rs2500304 T C 246 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=59.51;MQ0=0;OQ=550.86;QD=11.72;SB=-174.37 GT:AD:DP:GL:GQ 0/1:23,24:45:-71.94,-13.57,-90.75:99 -chr1 3182819 rs2455131 A G 160.52 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=53.72;MQ0=0;OQ=380.67;QD=9.28;SB=-185.58 GT:AD:DP:GL:GQ 0/1:26,15:41:-53.71,-12.35,-99.70:99 -chr1 3183091 . T G 31.12 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=4.54;MQ=48.96;MQ0=0;QD=0.80;SB=16.16 GT:AD:DP:GL:GQ 0/1:34,5:37:-17.54,-11.14,-116.34:63.95 -chr1 3183092 . C A 30.14 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=9.54;MQ=48.87;MQ0=0;QD=0.74;SB=14.77 GT:AD:DP:GL:GQ 0/1:36,5:37:-17.45,-11.16,-100.79:62.97 -chr1 3183861 rs55923982 G C 139.29 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=57.45;MQ0=0;OQ=542.30;QD=11.79;SB=-148.38 GT:AD:DP:GL:GQ 0/1:27,19:44:-70.78,-13.27,-111.52:99 -chr1 3184193 rs2455115 A G 314.03 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=53.52;MQ0=0;OQ=598.87;QD=12.22;SB=-281.59 GT:AD:DP:GL:GQ 0/1:25,24:48:-77.64,-14.47,-94.87:99 -chr1 3185401 . G T 101.68 PASS AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=59.51;MQ0=0;OQ=440.43;QD=11.59;SB=-233.97 GT:AD:DP:GL:GQ 0/1:19,19:33:-57.27,-9.94,-56.75:99 -chr1 3187015 . G A 77.56 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=1;HaplotypeScore=1.20;MQ=59.67;MQ0=0;OQ=971.62;QD=17.05;SB=-421.44 GT:AD:DP:GL:GQ 0/1:28,29:55:-117.01,-16.57,-95.93:99 -chr1 3188693 rs905137 A G 186.40 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=59.61;MQ0=0;OQ=484.36;QD=10.09;SB=-266.22 GT:AD:DP:GL:GQ 0/1:25,23:44:-64.98,-13.26,-96.26:99 -chr1 3189244 rs905136 A G 4.18 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=4;HaplotypeScore=2.03;MQ=60.00;MQ0=0;OQ=654.87;QD=15.97;SB=-328.31 GT:AD:DP:GL:GQ 0/1:18,23:38:-80.22,-11.45,-60.36:99 -chr1 3189344 rs905135 A C 1.64 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=6.41;MQ=59.54;MQ0=0;OQ=215.02;QD=4.30;SB=-100.13 GT:AD:DP:GL:GQ 0/1:35,15:44:-38.04,-13.26,-114.24:99 -chr1 3189859 rs2500302 T C 241.97 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=58.92;MQ0=0;OQ=339.74;QD=8.71;SB=-144.67 GT:AD:DP:GL:GQ 0/1:23,16:37:-48.41,-11.15,-86.58:99 -chr1 3190143 rs56004439 G A 2.42 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=8.41;MQ=57.37;MQ0=0;OQ=401.65;QD=8.37;SB=-155.21 GT:AD:DP:GL:GQ 0/1:33,15:46:-57.32,-13.87,-99.82:99 -chr1 3190754 . G A 32.75 PASS AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.74;MQ=60.00;MQ0=0;OQ=1225.08;QD=18.85;SB=-426.92 GT:AD:DP:GL:GQ 0/1:29,36:64:-145.07,-19.28,-99.09:99 -chr1 3190930 rs6685398 C A 88.85 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=4.12;MQ=60.00;MQ0=0;OQ=531.21;QD=13.28;SB=-273.35 GT:AD:DP:GL:GQ 0/1:21,19:39:-68.15,-11.75,-68.57:99 -chr1 3190993 rs6690217 A C 128.36 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.55;MQ0=0;OQ=1454.60;QD=28.52;SB=-648.68 GT:AD:DP:GL:GQ 1/1:0,51:48:-149.09,-14.47,-0.05:99 -chr1 3192051 . C T 11.01 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.25;MQ0=0;OQ=927.90;QD=18.56;SB=-215.90 GT:AD:DP:GL:GQ 0/1:20,30:48:-110.53,-14.46,-70.14:99 -chr1 3192870 rs10797387 A C 142.29 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=1.89;MQ=59.80;MQ0=0;OQ=775.82;QD=12.93;SB=-322.85 GT:AD:DP:GL:GQ 0/1:30,30:54:-97.13,-16.27,-96.18:99 -chr1 3193262 . A G 27.47 PASS AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=60.00;MQ0=0;OQ=435.09;QD=14.04;SB=-158.61 GT:AD:DP:GL:GQ 0/1:13,18:29:-55.53,-8.74,-48.24:99 -chr1 3193691 rs12024838 G C 0.85 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=9.20;MQ=52.13;MQ0=0;OQ=313.95;QD=12.08;SB=-105.65 GT:AD:DP:GL:GQ 0/1:16,10:19:-40.41,-5.73,-35.18:99 -chr1 3193692 rs61759191 C T 0.47 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=9.20;MQ=52.13;MQ0=0;OQ=179.56;QD=6.91;SB=-26.50 GT:AD:DP:GL:GQ 0/1:18,8:19:-26.97,-5.73,-38.66:99 -chr1 3193738 rs10909916 C G 2.42 PASS AC=1;AF=0.50;AN=2;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=6.33;MQ=40.46;MQ0=4;OQ=154.87;QD=11.06;SB=-44.90 GT:AD:DP:GL:GQ 0/1:9,5:7:-20.88,-2.11,-8.99:68.77 -chr1 3194086 rs6687930 T C 3.78 PASS AC=1;AF=0.50;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=48.01;MQ0=1;OQ=344.21;QD=18.12;SB=-6.99 GT:AD:DP:GL:GQ 0/1:2,17:14:-41.92,-4.22,-8.13:39.10 -chr1 3194355 rs2134119 C G 59.27 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=4.23;MQ=54.23;MQ0=0;OQ=781.76;QD=15.95;SB=-353.76 GT:AD:DP:GL:GQ 0/1:22,27:44:-94.74,-13.28,-81.77:99 -chr1 3194394 rs2455117 T A 339.54 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=56.31;MQ0=0;OQ=679.10;QD=15.43;SB=-276.72 GT:AD:DP:GL:GQ 0/1:22,22:42:-83.84,-12.65,-73.08:99 -chr1 3197040 rs2250291 C T 260.09 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=59.34;MQ0=0;OQ=469.67;QD=13.42;SB=-216.70 GT:AD:DP:GL:GQ 0/1:18,17:34:-60.50,-10.25,-62.96:99 -chr1 3197640 rs55866132 G A 241.93 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=1.46;MQ=60.00;MQ0=0;OQ=793.46;QD=13.45;SB=-307.77 GT:AD:DP:GL:GQ 0/1:34,25:59:-100.40,-17.77,-123.91:99 -chr1 3197902 rs2500297 C T 238.37 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=60.00;MQ0=0;OQ=756.06;QD=14.00;SB=-170.24 GT:AD:DP:GL:GQ 0/1:30,24:49:-93.65,-14.77,-87.43:99 -chr1 3198235 rs10909918 A G 238.34 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.77;MQ=60.00;MQ0=0;OQ=490.49;QD=8.92;SB=-208.46 GT:AD:DP:GL:GQ 0/1:32,23:51:-67.70,-15.37,-121.94:99 -chr1 3198466 . G A 262.64 PASS AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=604.73;QD=12.34;SB=-281.22 GT:AD:DP:GL:GQ 0/1:28,21:46:-77.62,-13.87,-86.11:99 -chr1 3199356 rs2500295 T C 571.16 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.75;MQ0=0;OQ=1482.44;QD=28.51;SB=-763.58 GT:AD:DP:GL:GQ 1/1:0,52:48:-151.88,-14.48,-0.05:99 -chr1 3199491 rs4648376 G A 14.27 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=4.90;MQ=58.90;MQ0=0;OQ=2231.72;QD=37.83;SB=-1015.37 GT:AD:DP:GL:GQ 1/1:0,59:58:-226.79,-17.49,-0.03:99 -chr1 3199627 rs2500294 C T 622.47 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.99;MQ0=0;OQ=2326.22;QD=38.77;SB=-1091.37 GT:AD:DP:GL:GQ 1/1:0,60:58:-236.22,-17.47,-0.02:99 -chr1 3199783 rs1553291 A G 564.79 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.57;MQ0=0;OQ=1581.83;QD=29.29;SB=-575.98 GT:AD:DP:GL:GQ 1/1:0,54:51:-161.82,-15.38,-0.05:99 -chr1 3200187 . C T 35.88 PASS AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.26;MQ=59.60;MQ0=0;OQ=491.30;QD=10.45;SB=-217.71 GT:AD:DP:GL:GQ 0/1:29,18:43:-65.37,-12.96,-91.60:99 -chr1 3200810 rs4648468 A G 447.48 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.09;MQ0=0;OQ=1398.57;QD=30.40;SB=-596.06 GT:AD:DP:GL:GQ 1/1:0,46:43:-143.47,-12.96,-0.03:99 -chr1 3201105 rs10047257 C T 220.48 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=596.34;QD=15.29;SB=-318.86 GT:AD:DP:GL:GQ 0/1:20,19:38:-74.37,-11.45,-63.70:99 -chr1 3201318 rs4648377 A C 538.98 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.13;MQ0=0;OQ=1615.09;QD=33.65;SB=-661.05 GT:AD:DP:GL:GQ 1/1:0,48:47:-165.11,-14.16,-0.02:99 -chr1 3201410 rs4648469 A G 202.17 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.42;MQ0=0;OQ=1230.36;QD=30.76;SB=-513.23 GT:AD:DP:GL:GQ 1/1:0,39:38:-126.64,-11.45,-0.02:99 -chr1 3201613 rs4648470 C T 79.16 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=60.00;MQ0=0;OQ=1081.89;QD=24.59;SB=-515.59 GT:AD:DP:GL:GQ 0/1:12,32:43:-124.44,-12.96,-36.35:99 -chr1 3202053 rs2500292 A G 471 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.05;MQ0=0;OQ=1432.25;QD=32.55;SB=-511.16 GT:AD:DP:GL:GQ 1/1:0,44:41:-146.83,-12.35,-0.02:99 -chr1 3202174 rs2500291 C T 728.69 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=2429.46;QD=38.56;SB=-1207.61 GT:AD:DP:GL:GQ 1/1:1,62:61:-246.55,-18.37,-0.01:99 -chr1 3202451 rs2500290 G C 18.43 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=0.98;MQ=58.98;MQ0=0;OQ=1616.44;QD=39.43;SB=-797.54 GT:AD:DP:GL:GQ 1/1:0,41:39:-165.25,-11.76,-0.02:99 -chr1 3202782 rs1875452 C G 157.50 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.36;MQ=59.54;MQ0=0;OQ=2035.33;QD=40.71;SB=-884.21 GT:AD:DP:GL:GQ 1/1:0,50:48:-207.14,-14.47,-0.02:99 -chr1 3202806 rs2500289 A G 260.23 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=59.19;MQ0=0;OQ=1923.10;QD=33.74;SB=-724.29 GT:AD:DP:GL:GQ 1/1:0,57:54:-195.91,-16.27,-0.02:99 -chr1 3203962 rs2500288 T C 186.16 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=59.58;MQ0=0;OQ=1801.36;QD=32.75;SB=-828.32 GT:AD:DP:GL:GQ 1/1:0,55:51:-183.74,-15.36,-0.02:99 -chr1 3204030 rs7553849 T C 226.01 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=56.20;MQ0=0;OQ=1684.70;QD=29.05;SB=-851.52 GT:AD:DP:GL:GQ 1/1:0,58:53:-172.10,-15.99,-0.05:99 -chr1 3204380 rs10442593 A G 67.15 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.28;MQ0=0;OQ=958.98;QD=29.97;SB=-369.57 GT:AD:DP:GL:GQ 1/1:0,32:28:-99.49,-8.43,-0.01:84.24 -chr1 3204592 rs2455144 A G 617.75 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.05;MQ0=0;OQ=2332.51;QD=29.90;SB=-1027.75 GT:AD:DP:GL:GQ 1/1:0,78:74:-236.91,-22.33,-0.08:99 -chr1 3204835 . G A 53.06 PASS AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=60.00;MQ0=0;OQ=892.55;QD=15.13;SB=-296.23 GT:AD:DP:GL:GQ 0/1:30,29:55:-109.11,-16.57,-93.52:99 -chr1 3204852 rs2500287 G T 86 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=60.00;MQ0=0;OQ=2470.97;QD=33.85;SB=-613.02 GT:AD:DP:GL:GQ 1/1:1,71:71:-250.71,-21.39,-0.03:99 -chr1 3205054 . A G 35.05 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=1;HaplotypeScore=2.07;MQ=60.00;MQ0=0;OQ=563.88;QD=10.44;SB=-299.62 GT:AD:DP:GL:GQ 0/1:29,25:52:-75.34,-15.67,-118.24:99 -chr1 3205180 rs2455143 A T 124.60 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=2.69;MQ=58.71;MQ0=0;OQ=2383.23;QD=36.67;SB=-1091.65 GT:AD:DP:GL:GQ 1/1:0,65:64:-241.93,-19.28,-0.02:99 -chr1 3205492 rs2455142 T G 512.17 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=49.74;MQ0=0;OQ=2083.81;QD=29.77;SB=-759.91 GT:AD:DP:GL:GQ 1/1:0,70:70:-212.03,-21.10,-0.07:99 -chr1 3205734 rs2455141 A C 27.67 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=40.69;MQ0=0;OQ=504.37;QD=19.40;SB=-155.27 GT:AD:DP:GL:GQ 1/1:2,24:21:-57.94,-6.33,-3.92:24.11 -chr1 3205761 rs2455140 T G 0.29 PASS AC=1;AF=0.50;AN=2;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=2.39;MQ=22.97;MQ0=1;OQ=235.32;QD=18.10;SB=-39.00 GT:AD:DP:GL:GQ 0/1:2,10:9:-29.50,-2.71,-3.64:9.30 -chr1 3205805 rs12728296 T C 26.83 LowQual AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=13.68;MQ0=0;QD=1.79;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,15:2:-6.09,-0.60,-0.00:6.01 -chr1 3205846 . G A 232.99 PASS AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=22.36;MQ0=0;OQ=538.85;QD=13.47;SB=-237.77 GT:AD:DP:GL:GQ 0/1:19,21:21:-63.50,-6.33,-16.25:99 -chr1 3206300 rs12036713 A G 35.28 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=14.04;MQ0=4;QD=5.04;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,7:2:-6.94,-0.60,-0.00:6.02 -chr1 3206493 . T G 46.28 PASS AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=17.34;MQ0=4;OQ=70.14;QD=6.38;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,10:3:-10.50,-0.90,-0.00:9.03 -chr1 3206505 . T C 3.40 PASS AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=18.66;MQ0=4;OQ=95.85;QD=6.85;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,9:5:-14.37,-1.51,-4.06:25.51 -chr1 3206506 . A G 5.49 PASS AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=18.66;MQ0=4;OQ=74.94;QD=5.35;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,9:5:-12.29,-1.51,-3.97:24.63 -chr1 3206538 . G A 1.11 PASS AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=18.43;MQ0=3;OQ=73.15;QD=5.23;SB=-10.00 GT:AD:DP:GL:GQ 0/1:7,7:4:-11.80,-1.21,-3.10:18.92 -chr1 3206554 rs56276321 T G 10.51 LowQual AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=19.60;MQ0=3;QD=0.53;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,5:8:-6.70,-2.41,-21.47:42.94 -chr1 3206566 . T C 28.09 PASS AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=22.53;MQ0=2;OQ=145.15;QD=6.91;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,9:12:-21.41,-3.62,-22.84:99 -chr1 3206567 . A G 6.01 PASS AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=22.53;MQ0=2;OQ=85.83;QD=4.09;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,9:11:-15.19,-3.32,-21.71:99 -chr1 3206577 . C T 7.20 PASS AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=22.19;MQ0=2;OQ=218.94;QD=10.43;SB=-10.00 GT:AD:DP:GL:GQ 0/1:10,11:11:-28.49,-3.31,-13.17:98.62 -chr1 3206588 . A C 10.65 LowQual AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=1;HaplotypeScore=2.88;MQ=22.98;MQ0=0;QD=0.59;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,6:7:-6.42,-2.11,-14.50:43.09 -chr1 3206599 . G A 2.11 PASS AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=22.00;MQ0=0;OQ=65.71;QD=4.11;SB=-10.00 GT:AD:DP:GL:GQ 0/1:7,9:7:-11.98,-2.12,-8.40:62.78 -chr1 3206700 . A G 0.69 PASS AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=24.64;MQ0=1;OQ=276.82;QD=18.45;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,14:12:-34.36,-3.62,-3.48:2.36 -chr1 3206761 . A G 22.65 LowQual AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=26.60;MQ0=1;QD=0.54;SB=-10.00 GT:AD:DP:GL:GQ 0/1:32,10:32:-15.20,-9.65,-103.92:55.47 -chr1 3206926 rs61759194 A G 113.52 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=2.49;MQ=46.00;MQ0=0;OQ=649.36;QD=10.82;SB=-346.23 GT:AD:DP:GL:GQ 0/1:29,31:46:-82.08,-13.86,-88.11:99 -chr1 3207011 rs2455137 C T 379.46 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=48.62;MQ0=0;OQ=1983.22;QD=35.41;SB=-860.00 GT:AD:DP:GL:GQ 1/1:0,56:50:-201.92,-15.06,-0.01:99 -chr1 3207294 rs2500284 G A 102.13 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=1.30;MQ=58.88;MQ0=0;OQ=2616.26;QD=39.05;SB=-1335.76 GT:AD:DP:GL:GQ 1/1:1,66:66:-265.23,-19.89,-0.02:99 -chr1 3208189 rs2455136 A T 142.28 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=2.14;MQ=59.12;MQ0=0;OQ=2529.01;QD=36.65;SB=-1261.52 GT:AD:DP:GL:GQ 1/1:0,69:68:-256.50,-20.48,-0.02:99 -chr1 3208783 rs2500283 G C 612.26 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2831.75;QD=42.91;SB=-1184.48 GT:AD:DP:GL:GQ 1/1:0,66:66:-286.78,-19.89,-0.02:99 -chr1 3209357 rs2500282 A G 594.44 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.69;MQ0=0;OQ=1981.22;QD=32.48;SB=-526.13 GT:AD:DP:GL:GQ 1/1:0,61:61:-201.75,-18.39,-0.04:99 -chr1 3209761 rs2455135 A G 63.74 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1623.95;QD=30.64;SB=-619.36 GT:AD:DP:GL:GQ 1/1:0,53:46:-165.99,-13.85,-0.01:99 -chr1 3210242 rs2500281 G A 563.38 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=51.01;MQ0=0;OQ=1613.10;QD=35.07;SB=-716.96 GT:AD:DP:GL:GQ 1/1:0,46:42:-164.91,-12.65,-0.01:99 -chr1 3210275 rs2455134 A G 102.15 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=34.21;MQ0=0;OQ=983.95;QD=25.89;SB=-399.50 GT:AD:DP:GL:GQ 1/1:0,38:28:-101.99,-8.43,-0.01:84.26 -chr1 3210353 rs2455133 C G 65.09 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=35.62;MQ0=2;OQ=1518.72;QD=29.78;SB=-723.73 GT:AD:DP:GL:GQ 1/1:4,47:41:-164.26,-12.36,-8.80:35.57 -chr1 3210943 rs2455132 T C 34.33 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=58.65;MQ0=0;OQ=1292.96;QD=28.73;SB=-546.03 GT:AD:DP:GL:GQ 1/1:1,44:43:-137.07,-12.97,-4.19:87.75 -chr1 3211298 rs56357655 G T 236.14 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.31;MQ0=0;OQ=570.69;QD=13.59;SB=-286.33 GT:AD:DP:GL:GQ 0/1:20,22:39:-72.10,-11.75,-66.92:99 -chr1 3211481 rs4648378 A T 264.07 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=1968.99;QD=35.80;SB=-994.60 GT:AD:DP:GL:GQ 1/1:0,55:54:-200.50,-16.27,-0.02:99 -chr1 3212566 rs3923081 A G 604.08 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1445.27;QD=30.75;SB=-602.58 GT:AD:DP:GL:GQ 1/1:0,47:46:-148.15,-13.87,-0.04:99 -chr1 3213090 rs4648471 A G 181.27 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=3.77;MQ=58.96;MQ0=0;OQ=1176.67;QD=14.53;SB=-570.90 GT:AD:DP:GL:GQ 0/1:40,41:78:-144.45,-23.50,-149.52:99 -chr1 3213140 rs4233025 C T 288.86 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.52;MQ0=0;OQ=3371.29;QD=38.75;SB=-1393.36 GT:AD:DP:GL:GQ 1/1:0,86:84:-336.13,-25.31,-0.03:99 -chr1 3213393 rs4648472 G A 290.65 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.49;MQ=58.95;MQ0=0;OQ=2168.73;QD=34.98;SB=-915.32 GT:AD:DP:GL:GQ 1/1:0,61:56:-220.48,-16.87,-0.02:99 -chr1 3213624 rs4648473 A G 299.83 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=60.00;MQ0=0;OQ=2351.35;QD=35.09;SB=-1180.73 GT:AD:DP:GL:GQ 1/1:0,67:67:-238.75,-20.18,-0.03:99 -chr1 3213815 rs4145901 A G 578.32 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.24;MQ0=0;OQ=1913.13;QD=34.78;SB=-765.19 GT:AD:DP:GL:GQ 1/1:0,55:55:-194.92,-16.57,-0.02:99 -chr1 3214070 rs4145900 C T 633.07 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.20;MQ0=0;OQ=2312.37;QD=39.87;SB=-883.19 GT:AD:DP:GL:GQ 1/1:0,58:58:-234.84,-17.47,-0.01:99 -chr1 3214663 rs2483258 A G 141.81 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.74;MQ=58.20;MQ0=0;OQ=1545.60;QD=32.89;SB=-781.14 GT:AD:DP:GL:GQ 1/1:0,47:45:-158.16,-13.56,-0.02:99 -chr1 3215654 rs2500279 A G 10.26 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=3;HaplotypeScore=1.05;MQ=60.00;MQ0=0;OQ=1630.84;QD=29.65;SB=-792.65 GT:AD:DP:GL:GQ 1/1:0,55:51:-166.71,-15.38,-0.04:99 -chr1 3215800 rs2500278 C T 196.13 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=3.49;MQ=60.00;MQ0=0;OQ=2097.43;QD=35.55;SB=-1034.29 GT:AD:DP:GL:GQ 1/1:1,57:55:-213.35,-16.58,-0.03:99 -chr1 3216399 rs59127130 T A 71.30 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=3.18;MQ=59.01;MQ0=0;OQ=500.47;QD=10.65;SB=-267.66 GT:AD:DP:GL:GQ 0/1:27,19:45:-66.90,-13.56,-91.26:99 -chr1 3218505 . G T 13.88 PASS AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=1.49;MQ=59.42;MQ0=0;OQ=562.03;QD=14.05;SB=-143.82 GT:AD:DP:GL:GQ 0/1:17,23:34:-69.73,-10.24,-51.47:99 -chr1 3223491 rs2500277 T C 605.12 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1039.56;QD=14.85;SB=-437.57 GT:AD:DP:GL:GQ 0/1:34,36:70:-128.33,-21.09,-137.20:99 -chr1 3227069 rs2500274 G A 733.97 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2547.84;QD=38.03;SB=-1230.64 GT:AD:DP:GL:GQ 1/1:0,67:65:-258.39,-19.58,-0.02:99 -chr1 3231689 rs2500271 A G 65.84 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=6.09;MQ=58.05;MQ0=0;OQ=618.77;QD=12.89;SB=-326.13 GT:AD:DP:GL:GQ 0/1:22,25:43:-80.91,-15.74,-76.88:99 -chr1 3232314 rs2500270 C T 276.80 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=58.93;MQ0=0;OQ=890.12;QD=13.69;SB=-466.96 GT:AD:DP:GL:GQ 0/1:37,28:63:-111.27,-18.97,-132.21:99 -chr1 3232391 rs7521865 T C 80.12 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=0.89;MQ=59.46;MQ0=0;OQ=581.07;QD=12.11;SB=-302.66 GT:AD:DP:GL:GQ 0/1:25,23:45:-74.95,-13.56,-94.63:99 -chr1 3232424 rs11576578 C T 337.83 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.37;MQ0=0;OQ=583.63;QD=16.21;SB=-245.53 GT:AD:DP:GL:GQ 0/1:18,18:35:-72.19,-10.55,-57.05:99 -chr1 3232513 rs2500268 C T 2.29 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=60.10;MQ0=0;OQ=81.92;QD=2.64;SB=-51.23 GT:AD:DP:GL:GQ 0/1:26,5:28:-19.91,-8.44,-80.68:99 -chr1 3232545 rs7550743 G C 135.04 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=204.00;QD=6.18;SB=-89.25 GT:AD:DP:GL:GQ 0/1:25,8:26:-31.53,-7.85,-72.48:99 -chr1 3233210 rs2483268 C T 55.97 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=59.45;MQ0=0;OQ=685.34;QD=20.16;SB=-292.33 GT:AD:DP:GL:GQ 0/1:13,21:31:-81.16,-9.34,-34.58:99 -chr1 3233282 rs2483269 C T 150.37 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=59.51;MQ0=0;OQ=931.05;QD=19.81;SB=-450.84 GT:AD:DP:GL:GQ 0/1:20,27:46:-110.24,-13.86,-67.60:99 -chr1 3234117 rs2483270 T C 92.91 PASS AC=1;AF=0.50;AN=2;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=1.03;MQ=54.48;MQ0=0;OQ=186.80;QD=8.90;SB=-89.99 GT:AD:DP:GL:GQ 0/1:13,8:21:-28.30,-6.33,-49.94:99 -chr1 3235659 rs56368529 T G 3.22 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=4.81;MQ=58.01;MQ0=0;OQ=299.04;QD=9.06;SB=-59.90 GT:AD:DP:GL:GQ 0/1:16,17:27:-41.32,-8.14,-54.29:99 -chr1 3236031 rs55929121 A G 111.89 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=59.44;MQ0=0;OQ=382.21;QD=9.32;SB=-138.40 GT:AD:DP:GL:GQ 0/1:24,17:41:-53.86,-12.36,-96.85:99 -chr1 3237249 rs2483272 T C 227.71 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=58.89;MQ0=0;OQ=695.19;QD=16.55;SB=-364.39 GT:AD:DP:GL:GQ 0/1:17,25:40:-84.86,-12.05,-61.97:99 -chr1 3237696 rs11577229 A C 60.92 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=1.98;MQ=59.46;MQ0=0;OQ=605.90;QD=14.09;SB=-151.87 GT:AD:DP:GL:GQ 0/1:20,23:42:-76.53,-12.66,-70.16:99 -chr1 3237725 rs2483273 C T 273.62 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=60.00;MQ0=0;OQ=458.56;QD=11.46;SB=-253.26 GT:AD:DP:GL:GQ 0/1:23,17:37:-60.29,-11.15,-74.02:99 -chr1 3237958 rs2483274 A G 334.60 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=60.00;MQ0=0;OQ=489.91;QD=10.42;SB=-162.48 GT:AD:DP:GL:GQ 0/1:24,23:45:-65.84,-13.57,-92.79:99 -chr1 3238582 rs56033677 T C 21.15 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=2;HaplotypeScore=0.89;MQ=59.43;MQ0=0;OQ=296.91;QD=9.00;SB=-160.33 GT:AD:DP:GL:GQ 0/1:18,15:30:-42.02,-9.04,-67.71:99 -chr1 3238892 rs55807399 G T 41.07 PASS AC=1;AF=0.50;AN=2;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=58.83;MQ0=0;OQ=103.10;QD=6.44;SB=-69.87 GT:AD:DP:GL:GQ 0/1:10,6:13:-17.51,-3.92,-27.55:99 -chr1 3239158 . C T 1.04 PASS AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=59.48;MQ0=0;OQ=666.04;QD=18.50;SB=-35.64 GT:AD:DP:GL:GQ 0/1:16,20:35:-80.44,-10.55,-47.82:99 -chr1 3239323 . G A 79.22 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=60.00;MQ0=0;OQ=885.68;QD=16.10;SB=-289.76 GT:AD:DP:GL:GQ 0/1:28,27:52:-107.52,-15.67,-84.40:99 -chr1 3240283 rs1889121 A G 183.83 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=58.44;MQ0=0;OQ=423.56;QD=10.86;SB=-163.96 GT:AD:DP:GL:GQ 0/1:18,20:36:-60.24,-14.60,-67.49:99 -chr1 3241019 rs1110307 T C 317.91 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=59.03;MQ0=0;OQ=790.39;QD=11.80;SB=-362.96 GT:AD:DP:GL:GQ 0/1:34,33:66:-102.22,-19.90,-132.82:99 -chr1 3241835 rs4648477 G A 340.85 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.63;MQ0=0;OQ=880.63;QD=17.27;SB=-457.99 GT:AD:DP:GL:GQ 0/1:24,27:48:-105.81,-14.46,-75.34:99 -chr1 3241867 rs4648478 C T 165.67 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.81;MQ=58.72;MQ0=0;OQ=927.39;QD=18.18;SB=-291.79 GT:AD:DP:GL:GQ 0/1:22,29:49:-110.80,-14.77,-66.95:99 -chr1 3241964 rs2483278 C T 199.87 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=4.49;MQ=58.47;MQ0=0;OQ=815.99;QD=11.33;SB=-270.80 GT:AD:DP:GL:GQ 0/1:44,28:65:-104.47,-19.59,-130.43:99 -chr1 3242641 rs10797388 C T 87.31 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=2.82;MQ=59.66;MQ0=0;OQ=1468.23;QD=21.91;SB=-716.28 GT:AD:DP:GL:GQ 0/1:24,43:63:-169.09,-18.98,-69.99:99 -chr1 3243022 rs4648479 C G 270.01 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=59.32;MQ0=0;OQ=1259.62;QD=18.52;SB=-604.54 GT:AD:DP:GL:GQ 0/1:33,35:68:-149.74,-20.49,-145.47:99 -chr1 3243475 rs2500264 A G 371.99 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=57.70;MQ0=0;OQ=965.24;QD=13.04;SB=-435.59 GT:AD:DP:GL:GQ 0/1:35,39:72:-121.52,-21.71,-132.46:99 -chr1 3243538 rs2500263 C T 449.25 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=59.43;MQ0=0;OQ=1163.15;QD=14.36;SB=-551.30 GT:AD:DP:GL:GQ 0/1:44,37:79:-143.40,-23.80,-157.59:99 -chr1 3243563 rs10909933 A T 21.76 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=5.38;MQ=58.82;MQ0=0;OQ=1256.33;QD=15.90;SB=-624.35 GT:AD:DP:GL:GQ 0/1:39,40:77:-152.11,-23.19,-142.90:99 -chr1 3243699 rs7516137 C G 384.73 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=58.95;MQ0=1;OQ=1414.58;QD=19.38;SB=-612.10 GT:AD:DP:GL:GQ 0/1:31,42:71:-166.15,-21.41,-133.01:99 -chr1 3243749 rs7516150 C T 110.03 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=4.27;MQ=59.28;MQ0=0;OQ=1059.88;QD=16.56;SB=-511.08 GT:AD:DP:GL:GQ 0/1:31,33:63:-128.25,-18.98,-110.55:99 -chr1 3243801 rs7552331 G A 50.88 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=3.37;MQ=59.68;MQ0=0;OQ=1395.05;QD=19.38;SB=-586.45 GT:AD:DP:GL:GQ 0/1:31,41:71:-164.18,-21.39,-100.20:99 -chr1 3244201 rs1572038 G A 223.38 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=60.00;MQ0=0;OQ=849.89;QD=14.40;SB=-320.28 GT:AD:DP:GL:GQ 0/1:33,26:58:-105.75,-17.48,-105.23:99 -chr1 3244229 rs1572037 T C 103.02 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=1.14;MQ=59.74;MQ0=0;OQ=759.65;QD=10.70;SB=-211.19 GT:AD:DP:GL:GQ 0/1:40,31:70:-100.34,-21.09,-160.53:99 -chr1 3245634 . G A 2.67 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=2;HaplotypeScore=5.38;MQ=59.21;MQ0=0;OQ=768.53;QD=14.50;SB=-362.88 GT:AD:DP:GL:GQ 0/1:27,25:49:-94.91,-14.77,-78.82:99 -chr1 3245968 rs1999527 C A 270.72 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.55;MQ0=0;OQ=832.76;QD=16.33;SB=-309.70 GT:AD:DP:GL:GQ 0/1:20,31:46:-100.42,-13.86,-57.62:99 -chr1 3246110 rs1999526 G A 145.25 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=60.00;MQ0=0;OQ=722.36;QD=13.89;SB=-206.02 GT:AD:DP:GL:GQ 0/1:25,26:46:-91.77,-16.25,-79.35:99 -chr1 3247225 rs944819 T G 210.34 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=59.73;MQ0=0;OQ=1004.82;QD=11.68;SB=-427.67 GT:AD:DP:GL:GQ 0/1:50,36:86:-129.67,-25.90,-183.72:99 -chr1 3247599 rs2483281 C T 240.23 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=58.98;MQ0=0;OQ=504.82;QD=12.31;SB=-180.16 GT:AD:DP:GL:GQ 0/1:24,17:38:-65.21,-11.45,-77.36:99 -chr1 3251376 rs4648379 C T 354.38 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=1.15;MQ=59.76;MQ0=0;OQ=1302.21;QD=16.91;SB=-654.31 GT:AD:DP:GL:GQ 0/1:37,40:76:-156.40,-22.89,-133.27:99 -chr1 3251542 rs4415513 C T 583.60 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.25;MQ0=0;OQ=1033.27;QD=16.67;SB=-449.45 GT:AD:DP:GL:GQ 0/1:31,31:61:-125.00,-18.39,-98.88:99 -chr1 3252129 rs12564920 A G 258.43 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.38;MQ0=0;OQ=448.15;QD=9.96;SB=-222.39 GT:AD:DP:GL:GQ 0/1:23,22:39:-59.86,-11.76,-74.90:99 -chr1 3253722 . G A 5.82 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=951.14;QD=18.65;SB=-376.90 GT:AD:DP:GL:GQ 0/1:22,29:50:-113.46,-15.06,-78.22:99 -chr1 3254050 rs2483289 A C 189.02 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=0.83;MQ=60.00;MQ0=0;OQ=800.56;QD=13.80;SB=-367.58 GT:AD:DP:GL:GQ 0/1:28,30:55:-99.91,-16.57,-92.54:99 -chr1 3254157 rs2500257 A G 11.73 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=2;HaplotypeScore=3.42;MQ=59.13;MQ0=0;OQ=570.29;QD=13.26;SB=-176.97 GT:AD:DP:GL:GQ 0/1:21,22:40:-72.37,-12.05,-79.78:99 -chr1 3257948 . G C 98.91 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=35.14;MQ0=0;QD=7.07;SB=14.07 GT:AD:DP:GL:GQ 0/1:10,4:12:-16.79,-3.62,-31.08:99 -chr1 3257994 rs60920916 T C 0.33 PASS AC=1;AF=0.50;AN=2;DB;DP=17;Dels=0.00;HRun=2;HaplotypeScore=2.63;MQ=42.15;MQ0=0;OQ=77.87;QD=4.58;SB=20.08 GT:AD:DP:GL:GQ 0/1:13,4:15:-15.59,-4.52,-39.62:99 -chr1 3258005 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=3;HaplotypeScore=6.10;MQ=42.12;MQ0=0;OQ=65.85;QD=3.29;SB=23.09 GT:AD:DP:GL:GQ 0/1:16,4:17:-15.00,-5.13,-47.65:98.69 -chr1 3258920 . C T 2.85 PASS AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=553.46;QD=12.87;SB=-213.92 GT:AD:DP:GL:GQ 0/1:24,19:40:-70.69,-12.06,-71.24:99 -chr1 3262401 rs7550526 G A 60.02 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.60;MQ=58.89;MQ0=0;OQ=1567.02;QD=37.31;SB=-629.85 GT:AD:DP:GL:GQ 1/1:0,42:40:-160.30,-12.05,-0.01:99 -chr1 3262685 rs946759 C A 62.68 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=-0.12;MQ=57.75;MQ0=0;OQ=630.41;QD=19.70;SB=-314.39 GT:AD:DP:GL:GQ 1/1:3,29:21:-69.14,-6.33,-2.51:38.17 -chr1 3262923 rs946758 G A 287.49 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.91;MQ=59.58;MQ0=0;OQ=2113.36;QD=38.42;SB=-1046.71 GT:AD:DP:GL:GQ 1/1:0,55:53:-214.93,-15.96,-0.01:99 -chr1 3263976 rs55805251 C T 94.04 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=58.59;MQ0=0;OQ=518.72;QD=15.72;SB=-142.59 GT:AD:DP:GL:GQ 0/1:15,18:30:-64.20,-9.04,-43.17:99 -chr1 3264566 rs2483265 T C 43.57 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=60.00;MQ0=0;OQ=868.82;QD=26.33;SB=-460.17 GT:AD:DP:GL:GQ 1/1:0,33:29:-90.50,-8.75,-0.03:87.17 -chr1 3265009 rs12748963 C T 26.51 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=5.21;MQ=58.97;MQ0=0;OQ=826.30;QD=18.36;SB=-347.35 GT:AD:DP:GL:GQ 0/1:19,25:43:-98.87,-12.96,-59.86:99 -chr1 3266234 rs12073172 G A 592.78 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.50;MQ0=0;OQ=1102.37;QD=35.56;SB=-562.26 GT:AD:DP:GL:GQ 1/1:0,31:30:-113.84,-9.05,-0.02:90.27 -chr1 3266600 rs2500280 G C 2.70 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=8.93;MQ=59.31;MQ0=0;OQ=2375.28;QD=38.94;SB=-992.26 GT:AD:DP:GL:GQ 1/1:0,60:56:-241.13,-16.87,-0.02:99 -chr1 3266936 . G A 52.38 PASS AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.54;MQ=59.62;MQ0=0;OQ=518.77;QD=10.59;SB=-162.22 GT:AD:DP:GL:GQ 0/1:32,17:48:-69.63,-14.47,-101.23:99 -chr1 3267606 rs884308 C T 94.95 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=1579.42;QD=39.49;SB=-771.63 GT:AD:DP:GL:GQ 1/1:0,40:40:-161.54,-12.05,-0.01:99 -chr1 3268390 rs11583116 G A 130.53 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=58.33;MQ0=0;OQ=690.56;QD=13.81;SB=-242.25 GT:AD:DP:GL:GQ 0/1:26,24:43:-85.30,-12.96,-65.77:99 -chr1 3269184 rs7524171 A G 11.38 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=5.01;MQ=59.60;MQ0=0;OQ=1781.26;QD=30.71;SB=-880.26 GT:AD:DP:GL:GQ 1/1:0,58:53:-181.75,-15.98,-0.04:99 -chr1 3269881 rs2500262 T C 201.27 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.45;MQ=59.11;MQ0=0;OQ=1534.16;QD=29.50;SB=-546.01 GT:AD:DP:GL:GQ 1/1:0,52:49:-157.05,-14.78,-0.05:99 -chr1 3271322 . C T 58.72 PASS AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.80;MQ=59.40;MQ0=0;OQ=375.26;QD=12.11;SB=-208.89 GT:AD:DP:GL:GQ 0/1:17,14:28:-49.26,-8.45,-45.56:99 -chr1 3273388 rs4648485 G A 602.36 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=2075.89;QD=37.74;SB=-912.72 GT:AD:DP:GL:GQ 1/1:0,55:53:-211.19,-15.97,-0.02:99 -chr1 3275010 rs4648486 C T 123.41 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=58.75;MQ0=0;OQ=2039.90;QD=39.23;SB=-914.69 GT:AD:DP:GL:GQ 1/1:0,52:51:-207.59,-15.36,-0.01:99 -chr1 3275164 rs4648487 T C 21.75 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=5.20;MQ=59.14;MQ0=0;OQ=1843.56;QD=34.14;SB=-799.67 GT:AD:DP:GL:GQ 1/1:0,54:53:-187.96,-15.97,-0.02:99 -chr1 3275488 rs6424073 G A 234.48 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=2488.63;QD=39.50;SB=-1214.11 GT:AD:DP:GL:GQ 1/1:0,63:63:-252.47,-18.98,-0.02:99 -chr1 3277411 rs12138292 A G 1.83 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=4.96;MQ=56.17;MQ0=0;OQ=1416.27;QD=24.85;SB=-414.15 GT:AD:DP:GL:GQ 1/1:0,57:48:-145.28,-14.50,-0.07:99 -chr1 3279384 rs12135987 G A 273.93 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.39;MQ0=0;OQ=2572.74;QD=37.83;SB=-927.33 GT:AD:DP:GL:GQ 1/1:0,68:65:-260.88,-19.58,-0.02:99 -chr1 3279467 rs6688949 T C 3.82 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=2.45;MQ=57.66;MQ0=0;OQ=1297.10;QD=25.94;SB=-450.26 GT:AD:DP:GL:GQ 1/1:0,50:40:-133.33,-12.06,-0.03:99 -chr1 3279589 rs1333190 C T 668.27 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=1807.78;QD=36.89;SB=-784.69 GT:AD:DP:GL:GQ 1/1:0,49:46:-184.37,-13.86,-0.01:99 -chr1 3279831 rs1333189 C T 229.74 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=57.13;MQ0=0;OQ=1483.34;QD=36.18;SB=-765.52 GT:AD:DP:GL:GQ 1/1:0,40:38:-151.93,-11.45,-0.01:99 -chr1 3280999 rs2249860 A C 81.57 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=57.93;MQ0=0;OQ=1454.60;QD=33.83;SB=-752.07 GT:AD:DP:GL:GQ 1/1:0,43:42:-149.06,-12.65,-0.01:99 -chr1 3281067 rs2368593 G T 64.28 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=3.86;MQ=58.09;MQ0=0;OQ=2257.03;QD=31.79;SB=-1064.90 GT:AD:DP:GL:GQ 1/1:0,70:66:-229.32,-19.89,-0.04:99 -chr1 3281249 . G A 160.30 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.53;MQ0=0;OQ=717.46;QD=13.54;SB=-318.84 GT:AD:DP:GL:GQ 0/1:27,26:46:-88.90,-13.87,-75.19:99 -chr1 3282736 rs4648488 C T 347.36 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=59.52;MQ0=0;OQ=841.46;QD=17.53;SB=-434.81 GT:AD:DP:GL:GQ 0/1:21,27:46:-101.29,-13.86,-70.83:99 -chr1 3283525 rs4648489 A G 474.54 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=1662.64;QD=30.23;SB=-834.46 GT:AD:DP:GL:GQ 1/1:0,55:53:-169.90,-15.99,-0.06:99 -chr1 3284832 rs1538693 G A 695.45 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1980.96;QD=38.10;SB=-939.35 GT:AD:DP:GL:GQ 1/1:0,52:51:-201.70,-15.37,-0.02:99 -chr1 3285724 . G A 0.22 PASS AC=1;AF=0.50;AN=2;DP=8;Dels=0.00;HRun=1;HaplotypeScore=6.56;MQ=21.51;MQ0=1;OQ=72.03;QD=9.00;SB=-40.54 GT:AD:DP:GL:GQ 0/1:2,5:4:-11.69,-1.21,-3.37:21.64 -chr1 3285990 . G A 25.35 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=1;HaplotypeScore=5.35;MQ=15.41;MQ0=12;QD=0.85;SB=-32.52 GT:AD:DP:GL:GQ 0/1:21,9:5:-7.32,-1.51,-9.51:58.18 -chr1 3286144 . A G 36.06 LowQual AC=1;AF=0.50;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=14.48;MQ0=3;QD=4.51;SB=-6.99 GT:AD:DP:GL:GQ 0/1:4,3:3:-7.79,-0.90,-4.06:31.52 -chr1 3286152 . A C 0.09 PASS AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=27.22;MQ0=3;OQ=114.38;QD=16.34;SB=-46.01 GT:AD:DP:GL:GQ 1/1:0,7:4:-14.97,-1.20,-0.00:12.04 -chr1 3286284 . G A 36.93 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=1;HaplotypeScore=3.77;MQ=31.49;MQ0=4;QD=1.27;SB=-29.53 GT:AD:DP:GL:GQ 0/1:22,7:15:-11.50,-4.52,-41.17:69.76 -chr1 3286312 . G A 19.94 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=1;HaplotypeScore=9.31;MQ=28.36;MQ0=5;QD=0.59;SB=-24.50 GT:AD:DP:GL:GQ 0/1:27,6:17:-10.40,-5.13,-47.64:52.73 -chr1 3286320 . C A 227.39 HARD_TO_VALIDATE;Indel AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=8.75;MQ=31.04;MQ0=4;QD=5.98;SB=-25.91 GT:AD:DP:GL:GQ 0/1:27,11:20:-32.05,-6.03,-35.21:99 -chr1 3286354 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=1;HaplotypeScore=6.21;MQ=33.14;MQ0=5;OQ=87.60;QD=2.92;SB=-62.36 GT:AD:DP:GL:GQ 0/1:22,7:14:-19.10,-7.05,-34.67:99 -chr1 3286558 rs61043152 G A 1.11 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=8.99;MQ=54.01;MQ0=1;OQ=487.76;QD=11.09;SB=-75.56 GT:AD:DP:GL:GQ 0/1:23,21:40:-64.12,-12.06,-79.70:99 -chr1 3286811 . T C 44.59 PASS AC=2;AF=1.00;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=60.00;MQ0=0;OQ=1964.33;QD=34.46;SB=-944.38 GT:AD:DP:GL:GQ 1/1:0,57:56:-200.04,-16.87,-0.02:99 -chr1 3287141 rs11584942 G A 391.20 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=59.82;MQ0=0;OQ=780.63;QD=15.31;SB=-324.32 GT:AD:DP:GL:GQ 0/1:25,26:47:-95.51,-14.16,-75.83:99 -chr1 3287246 rs11584967 G A 573.67 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.25;MQ0=0;OQ=877.40;QD=15.67;SB=-384.91 GT:AD:DP:GL:GQ 0/1:28,28:54:-107.29,-16.27,-98.41:99 -chr1 3287659 rs4648490 A C 117.52 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=3.24;MQ=58.26;MQ0=0;OQ=1692.37;QD=33.18;SB=-840.06 GT:AD:DP:GL:GQ 1/1:0,51:50:-172.85,-15.06,-0.02:99 -chr1 3290667 rs868688 C T 279.51 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.13;MQ=58.44;MQ0=0;OQ=2018.08;QD=35.40;SB=-933.25 GT:AD:DP:GL:GQ 1/1:0,57:52:-205.41,-15.67,-0.02:99 -chr1 3290990 rs868689 T G 679.66 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.27;MQ0=0;OQ=1815.91;QD=31.86;SB=-898.65 GT:AD:DP:GL:GQ 1/1:0,57:52:-185.19,-15.66,-0.02:99 -chr1 3292591 rs11810266 C G 73.61 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=59.54;MQ0=0;OQ=822.36;QD=20.06;SB=-350.43 GT:AD:DP:GL:GQ 0/1:18,23:40:-97.58,-12.06,-74.61:99 -chr1 3293306 rs2245703 T C 622.87 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2385.34;QD=35.60;SB=-962.70 GT:AD:DP:GL:GQ 1/1:0,67:67:-242.14,-20.18,-0.02:99 -chr1 3293627 rs6676024 C T 186.96 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=58.97;MQ0=0;OQ=1016.67;QD=17.23;SB=-303.79 GT:AD:DP:GL:GQ 0/1:29,30:58:-122.43,-17.48,-92.51:99 -chr1 3293798 rs2065525 C G 62.72 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=58.34;MQ0=0;OQ=2298.73;QD=40.33;SB=-651.91 GT:AD:DP:GL:GQ 1/1:0,56:54:-233.47,-16.27,-0.01:99 -chr1 3294876 rs17399998 C T 445.68 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.75;MQ0=0;OQ=1142.20;QD=15.23;SB=-563.39 GT:AD:DP:GL:GQ 0/1:40,35:73:-139.51,-22.00,-126.39:99 -chr1 3295312 rs6687463 A G 1.44 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=5.24;MQ=59.03;MQ0=0;OQ=1175.21;QD=27.33;SB=-477.09 GT:AD:DP:GL:GQ 1/1:0,42:38:-121.14,-11.46,-0.04:99 -chr1 3295326 . C A 16.33 PASS AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=58.87;MQ0=0;OQ=469.13;QD=12.68;SB=-130.80 GT:AD:DP:GL:GQ 0/1:19,18:34:-60.44,-10.25,-57.03:99 -chr1 3295820 . C T 40.94 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=60.00;MQ0=0;OQ=844.76;QD=17.60;SB=-369.85 GT:AD:DP:GL:GQ 0/1:21,27:46:-101.62,-13.86,-70.72:99 -chr1 3296384 rs6686140 C A 6.91 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=6.50;MQ=59.17;MQ0=0;OQ=324.87;QD=11.60;SB=-121.49 GT:AD:DP:GL:GQ 0/1:8,20:20:-41.81,-6.04,-18.74:99 -chr1 3296715 rs2151350 T G 0.13 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=4;HaplotypeScore=2.18;MQ=58.99;MQ0=0;OQ=1168.63;QD=25.41;SB=-611.86 GT:AD:DP:GL:GQ 1/1:0,46:39:-120.49,-11.76,-0.04:99 -chr1 3297308 rs2493281 A G 8.42 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=1.21;MQ=58.18;MQ0=1;OQ=1041.73;QD=26.04;SB=-499.54 GT:AD:DP:GL:GQ 1/1:1,39:33:-107.79,-9.95,-0.03:99 -chr1 3297606 rs2493278 T C 732.40 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.88;MQ0=0;OQ=2573.66;QD=35.26;SB=-1043.85 GT:AD:DP:GL:GQ 1/1:0,73:73:-260.97,-21.99,-0.02:99 -chr1 3298358 rs2493268 T C 154.09 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.44;MQ=58.22;MQ0=0;OQ=1688.23;QD=33.76;SB=-851.05 GT:AD:DP:GL:GQ 1/1:0,50:48:-172.42,-14.46,-0.02:99 -chr1 3298817 rs12139767 G C 583.17 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.72;MQ0=0;OQ=898.96;QD=13.62;SB=-383.19 GT:AD:DP:GL:GQ 0/1:39,27:65:-112.80,-19.62,-153.47:99 -chr1 3299326 rs35864014 G A 497.53 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.73;MQ0=0;OQ=1037.02;QD=15.25;SB=-535.48 GT:AD:DP:GL:GQ 0/1:36,32:68:-127.47,-20.48,-131.88:99 -chr1 3301121 rs6702992 C T 313.10 PASS AC=1;AF=0.50;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.53;MQ0=0;OQ=194.21;QD=10.22;SB=-113.94 GT:AD:DP:GL:GQ 0/1:12,7:19:-28.43,-5.72,-42.63:99 -chr1 3301284 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=11;HaplotypeScore=19.15;MQ=56.72;MQ0=0;OQ=88.35;QD=1.38;SB=59.21 GT:AD:DP:GL:GQ 0/1:53,11:56:-28.99,-16.87,-158.63:99 -chr1 3301891 rs883678 C G 91.33 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.56;MQ0=0;OQ=812.38;QD=19.34;SB=-299.58 GT:AD:DP:GL:GQ 0/1:20,22:42:-97.18,-12.66,-83.21:99 -chr1 3302116 rs17822575 T G 316.41 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.54;MQ0=0;OQ=510.49;QD=12.45;SB=-250.83 GT:AD:DP:GL:GQ 0/1:20,21:40:-66.39,-12.05,-67.05:99 -chr1 3302296 rs10909937 C T 502.18 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1321.67;QD=36.71;SB=-625.01 GT:AD:DP:GL:GQ 1/1:0,36:34:-135.76,-10.24,-0.01:99 -chr1 3302524 rs56378103 C T 103.94 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.67;MQ=58.71;MQ0=0;OQ=1572.33;QD=29.12;SB=-689.92 GT:AD:DP:GL:GQ 1/1:0,52:42:-160.84,-12.66,-0.02:99 -chr1 3302527 . C T 6.09 PASS AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=5.35;MQ=58.33;MQ0=0;OQ=1011.78;QD=18.07;SB=-471.49 GT:AD:DP:GL:GQ 0/1:25,31:52:-120.14,-15.67,-71.42:99 -chr1 3302823 rs12726710 C T 452.04 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.58;MQ0=0;OQ=952.26;QD=17.31;SB=-305.83 GT:AD:DP:GL:GQ 0/1:25,30:55:-115.09,-16.58,-80.89:99 -chr1 3303142 rs7535965 G A 141.77 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=58.64;MQ0=0;OQ=1848.10;QD=38.50;SB=-836.62 GT:AD:DP:GL:GQ 1/1:0,48:47:-188.41,-14.16,-0.02:99 -chr1 3304456 rs17822581 A G 359.73 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=58.93;MQ0=0;OQ=1113.18;QD=17.13;SB=-574.04 GT:AD:DP:GL:GQ 0/1:27,38:62:-133.28,-18.68,-95.39:99 -chr1 3304922 rs57432749 C T 181.83 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=2.15;MQ=59.75;MQ0=0;OQ=993.31;QD=13.07;SB=-496.07 GT:AD:DP:GL:GQ 0/1:41,34:74:-127.49,-24.88,-150.46:99 -chr1 3305219 rs12144338 C T 131.32 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=59.67;MQ0=0;OQ=987.68;QD=17.33;SB=-284.79 GT:AD:DP:GL:GQ 0/1:26,31:53:-118.03,-15.98,-72.20:99 -chr1 3305551 . G A 103.37 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=59.39;MQ0=0;OQ=1099.92;QD=15.94;SB=-511.04 GT:AD:DP:GL:GQ 0/1:36,33:68:-133.77,-20.49,-112.10:99 -chr1 3305678 rs7542793 G A 440.42 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.35;MQ0=0;OQ=1064.35;QD=16.63;SB=-455.47 GT:AD:DP:GL:GQ 0/1:30,34:62:-128.41,-18.69,-93.40:99 -chr1 3305692 rs12737284 G A 493.84 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.31;MQ0=0;OQ=901.95;QD=14.79;SB=-398.19 GT:AD:DP:GL:GQ 0/1:31,30:59:-111.27,-17.79,-96.32:99 -chr1 3305845 rs12117228 T C 284.95 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=60.00;MQ0=0;OQ=892.28;QD=11.74;SB=-260.21 GT:AD:DP:GL:GQ 0/1:38,38:73:-114.51,-22.00,-150.21:99 -chr1 3305873 rs7551733 C G 174.37 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=2.43;MQ=60.00;MQ0=0;OQ=1089.18;QD=17.02;SB=-530.69 GT:AD:DP:GL:GQ 0/1:32,32:62:-130.89,-18.69,-134.52:99 -chr1 3306535 rs10909939 T C 528.42 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=956.73;QD=17.08;SB=-375.64 GT:AD:DP:GL:GQ 0/1:23,33:55:-115.53,-16.57,-90.24:99 -chr1 3306616 rs10909940 G A 39.73 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=60.00;MQ0=0;OQ=1181.64;QD=23.63;SB=-497.15 GT:AD:DP:GL:GQ 0/1:15,35:49:-136.22,-14.77,-45.61:99 -chr1 3306995 rs12743248 G A 92.64 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=59.54;MQ0=0;OQ=921.67;QD=15.36;SB=-465.48 GT:AD:DP:GL:GQ 0/1:29,31:55:-112.03,-16.58,-86.62:99 -chr1 3307093 rs12747145 G A 172.06 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=59.50;MQ0=0;OQ=526.33;QD=14.23;SB=-229.52 GT:AD:DP:GL:GQ 0/1:18,17:34:-69.44,-13.52,-51.06:99 -chr1 3307640 rs6424074 A G 354.64 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.52;MQ0=0;OQ=483.77;QD=10.08;SB=-196.29 GT:AD:DP:GL:GQ 0/1:28,20:48:-66.12,-14.46,-114.20:99 -chr1 3307747 rs6424075 G T 374.77 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.24;MQ0=0;OQ=884.55;QD=14.04;SB=-359.35 GT:AD:DP:GL:GQ 0/1:31,32:59:-109.52,-17.78,-88.61:99 -chr1 3308193 rs7551796 G A 363.24 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=59.69;MQ0=0;OQ=1293.28;QD=17.24;SB=-465.48 GT:AD:DP:GL:GQ 0/1:35,40:71:-154.00,-21.39,-119.84:99 -chr1 3308294 rs11576794 C T 278.53 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=4.09;MQ=57.73;MQ0=0;OQ=809.01;QD=14.19;SB=-410.42 GT:AD:DP:GL:GQ 0/1:31,26:56:-101.07,-16.88,-98.51:99 -chr1 3308295 rs11577526 A G 45.03 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=4.09;MQ=57.69;MQ0=0;OQ=1861.63;QD=33.24;SB=-741.99 GT:AD:DP:GL:GQ 1/1:0,56:55:-189.77,-16.57,-0.03:99 -chr1 3308392 rs11578011 T C 195.41 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=59.80;MQ0=0;OQ=1812.46;QD=30.21;SB=-790.65 GT:AD:DP:GL:GQ 1/1:0,59:59:-188.08,-20.60,-3.25:99 -chr1 3308574 rs5024246 G A 333.57 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.97;MQ0=0;OQ=876.20;QD=19.47;SB=-325.85 GT:AD:DP:GL:GQ 0/1:19,26:45:-104.46,-13.56,-63.60:99 -chr1 3308629 rs10909942 C G 63.18 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.03;HRun=0;HaplotypeScore=2.61;MQ=58.12;MQ0=0;OQ=1384.57;QD=36.44;SB=-590.68 GT:AD:DP:GL:GQ 1/1:0,37:37:-142.07,-10.86,-0.03:99 -chr1 3308702 rs56148282 G A 636.18 Indel AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.59;MQ0=0;QD=19.28;SB=-248.56 GT:AD:DP:GL:GQ 0/1:12,21:30:-75.94,-9.04,-37.32:99 -chr1 3308921 rs1889124 A G 16.57 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.23;MQ=58.83;MQ0=0;OQ=1016.70;QD=28.24;SB=-485.51 GT:AD:DP:GL:GQ 1/1:0,36:33:-105.29,-9.95,-0.03:99 -chr1 3309492 rs4353034 G A 0.09 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=16.76;MQ=57.87;MQ0=0;OQ=200.25;QD=6.07;SB=-37.01 GT:AD:DP:GL:GQ 0/1:23,8:31:-40.02,-16.71,-79.20:99 -chr1 3309534 rs12562397 C T 380.45 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.05;MQ0=0;OQ=1380.14;QD=38.34;SB=-494.65 GT:AD:DP:GL:GQ 1/1:0,36:35:-141.61,-10.54,-0.01:99 -chr1 3309541 rs12562399 C G 28.59 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.39;MQ0=0;OQ=1543.76;QD=40.63;SB=-639.90 GT:AD:DP:GL:GQ 1/1:0,38:37:-157.97,-11.15,-0.01:99 -chr1 3309637 rs4471209 G A 344.14 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.51;MQ0=0;OQ=382.91;QD=10.08;SB=-184.19 GT:AD:DP:GL:GQ 0/1:25,13:37:-52.73,-11.16,-73.72:99 -chr1 3309732 rs6664364 C T 134.87 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.91;MQ0=0;OQ=1699.09;QD=36.15;SB=-803.59 GT:AD:DP:GL:GQ 1/1:0,47:44:-173.51,-13.26,-0.01:99 -chr1 3309737 rs6664369 C T 130.20 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.53;MQ0=0;OQ=1859.42;QD=37.95;SB=-907.23 GT:AD:DP:GL:GQ 1/1:0,49:48:-189.54,-14.46,-0.02:99 -chr1 3309924 rs6669407 A G 328.05 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=995.86;QD=29.29;SB=-353.80 GT:AD:DP:GL:GQ 1/1:0,34:32:-103.20,-9.65,-0.03:96.22 -chr1 3310023 rs2493286 G C 420.47 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1672.06;QD=40.78;SB=-718.73 GT:AD:DP:GL:GQ 1/1:0,41:40:-170.80,-12.05,-0.01:99 -chr1 3310336 rs6657675 G A 148.97 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=58.38;MQ0=0;OQ=936.76;QD=20.36;SB=-332.89 GT:AD:DP:GL:GQ 0/1:17,29:43:-109.92,-12.96,-52.69:99 -chr1 3310582 rs55820208 C T 260.28 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=862.76;QD=19.61;SB=-355.48 GT:AD:DP:GL:GQ 0/1:19,25:43:-102.51,-12.95,-64.90:99 -chr1 3311027 rs41315264 C A 149.68 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=59.45;MQ0=0;OQ=411.02;QD=12.09;SB=-182.52 GT:AD:DP:GL:GQ 0/1:19,15:31:-53.72,-9.34,-57.20:99 -chr1 3311596 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=4;HaplotypeScore=11.58;MQ=54.22;MQ0=0;OQ=65.40;QD=1.42;SB=47.17 GT:AD:DP:GL:GQ 0/1:36,10:29:-18.61,-8.78,-88.90:98.24 -chr1 3312969 rs2483222 T C 325.01 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.04;MQ0=0;OQ=585.55;QD=11.71;SB=-306.07 GT:AD:DP:GL:GQ 0/1:25,25:48:-76.31,-14.47,-93.64:99 -chr1 3313057 rs2483223 T G 88.19 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.28;MQ0=0;OQ=1723.37;QD=26.93;SB=-826.52 GT:AD:DP:GL:GQ 1/1:0,64:57:-175.98,-17.18,-0.06:99 -chr1 3313337 rs2493304 A G 110.36 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=1.72;MQ=57.61;MQ0=0;OQ=687.56;QD=10.91;SB=-122.49 GT:AD:DP:GL:GQ 0/1:35,28:61:-90.42,-18.38,-140.37:99 -chr1 3313476 rs2483224 C T 77.82 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=3.15;MQ=58.48;MQ0=0;OQ=742.74;QD=16.15;SB=-389.41 GT:AD:DP:GL:GQ 0/1:21,25:42:-90.21,-12.66,-65.08:99 -chr1 3314069 rs2493303 G C 188.15 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=4.50;MQ=59.20;MQ0=0;OQ=943.60;QD=16.27;SB=-364.47 GT:AD:DP:GL:GQ 0/1:29,29:57:-114.83,-17.19,-120.69:99 -chr1 3314293 rs2493302 A T 133.12 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.49;MQ=59.50;MQ0=0;OQ=1593.32;QD=34.64;SB=-633.61 GT:AD:DP:GL:GQ 1/1:0,46:43:-162.93,-12.95,-0.01:99 -chr1 3314897 rs2483225 T C 612.21 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.62;MQ0=0;OQ=1899.06;QD=30.14;SB=-687.73 GT:AD:DP:GL:GQ 1/1:0,63:60:-193.54,-18.10,-0.05:99 -chr1 3315120 rs12063572 A G 188.23 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.59;MQ0=0;OQ=550.32;QD=9.83;SB=-278.26 GT:AD:DP:GL:GQ 0/1:32,24:53:-74.29,-15.98,-116.93:99 -chr1 3315180 rs12063579 A G 62.82 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=5.22;MQ=57.82;MQ0=1;OQ=599.80;QD=10.91;SB=-262.60 GT:AD:DP:GL:GQ 0/1:27,28:47:-77.44,-14.18,-83.26:99 -chr1 3315190 rs2493301 G C 0.26 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=15.61;MQ=57.11;MQ0=1;OQ=860.03;QD=14.83;SB=-355.44 GT:AD:DP:GL:GQ 0/1:31,27:50:-104.37,-15.08,-104.68:99 -chr1 3315194 rs12063613 A G 1.95 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=10.46;MQ=56.06;MQ0=1;OQ=577.86;QD=9.47;SB=-271.10 GT:AD:DP:GL:GQ 0/1:30,31:51:-76.46,-15.39,-99.42:99 -chr1 3315219 . C T 17.67 DPFilter;Indel;LowQual AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=15.64;MQ=52.76;MQ0=1;QD=0.26;SB=34.67 GT:AD:DP:GL:GQ 0/1:62,6:62:-23.74,-18.70,-180.77:50.43 -chr1 3315354 rs12065021 T C 254.87 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=59.68;MQ0=0;OQ=519.08;QD=13.66;SB=-277.27 GT:AD:DP:GL:GQ 0/1:17,21:38:-66.65,-11.46,-65.47:99 -chr1 3315386 rs2493300 A G 19.22 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=60.00;MQ0=0;OQ=1158.12;QD=28.95;SB=-549.05 GT:AD:DP:GL:GQ 1/1:0,40:37:-119.43,-11.16,-0.04:99 -chr1 3315441 rs2493299 A G 105.98 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.81;MQ=60.00;MQ0=0;OQ=1355.37;QD=28.24;SB=-603.93 GT:AD:DP:GL:GQ 1/1:0,48:44:-139.17,-13.27,-0.04:99 -chr1 3315528 rs55929648 C T 143.11 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=56.18;MQ0=0;OQ=1041.13;QD=18.59;SB=-362.91 GT:AD:DP:GL:GQ 0/1:25,31:52:-123.07,-15.67,-66.96:99 -chr1 3315772 rs2493298 C A 135.74 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=2.28;MQ=60.00;MQ0=0;OQ=850.76;QD=17.72;SB=-447.55 GT:AD:DP:GL:GQ 0/1:19,29:48:-102.82,-14.46,-64.75:99 -chr1 3315954 rs36070715 C G 3.94 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=2.72;MQ=51.04;MQ0=0;OQ=1102.41;QD=21.62;SB=-424.97 GT:AD:DP:GL:GQ 0/1:21,30:46:-127.39,-13.87,-69.58:99 -chr1 3316002 rs60965010 G A 53.41 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=3;HaplotypeScore=0.89;MQ=53.52;MQ0=0;OQ=683.65;QD=15.19;SB=-341.33 GT:AD:DP:GL:GQ 0/1:23,22:41:-84.00,-12.35,-71.37:99 -chr1 3316048 rs59831144 A G 16.76 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=6.55;MQ=58.48;MQ0=0;OQ=584.41;QD=12.70;SB=-233.93 GT:AD:DP:GL:GQ 0/1:24,22:41:-74.08,-12.36,-76.23:99 -chr1 3316091 rs2493297 G A 148.61 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=59.53;MQ0=0;OQ=1649.32;QD=33.66;SB=-643.25 GT:AD:DP:GL:GQ 1/1:0,49:44:-168.54,-13.26,-0.02:99 -chr1 3316251 . G A 182.76 SnpCluster AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=43.92;MQ0=0;QD=3.10;SB=-111.51 GT:AD:DP:GL:GQ 0/1:47,12:54:-37.83,-16.27,-156.64:99 -chr1 3316256 . T C 219.54 SnpCluster AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=43.18;MQ0=0;QD=3.66;SB=-32.48 GT:AD:DP:GL:GQ 0/1:44,16:55:-41.82,-16.58,-163.02:99 -chr1 3316258 rs7364679 G T 370 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=43.51;MQ0=0;QD=6.07;SB=-108.68 GT:AD:DP:GL:GQ 0/1:43,18:56:-57.15,-16.87,-140.13:99 -chr1 3316271 . G T 44.21 PASS AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=42.99;MQ0=0;OQ=836.87;QD=13.72;SB=-249.23 GT:AD:DP:GL:GQ 0/1:29,32:52:-102.65,-15.68,-71.94:99 -chr1 3316274 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=55.35;MQ=42.03;MQ0=0;OQ=122.20;QD=2.07;SB=-76.97 GT:AD:DP:GL:GQ 0/1:47,12:53:-31.48,-15.98,-148.32:99 -chr1 3316287 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=56;Dels=0.04;HRun=0;HaplotypeScore=28.34;MQ=46.39;MQ0=0;OQ=249.44;QD=4.45;SB=13.22 GT:AD:DP:GL:GQ 0/1:42,12:52:-43.29,-15.07,-133.82:99 -chr1 3316288 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=1;HaplotypeScore=24.35;MQ=46.92;MQ0=0;OQ=241.94;QD=4.17;SB=40.21 GT:AD:DP:GL:GQ 0/1:44,14:54:-43.75,-16.27,-150.33:99 -chr1 3316304 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=2;HaplotypeScore=31.71;MQ=50.98;MQ0=0;OQ=105.86;QD=1.79;SB=47.12 GT:AD:DP:GL:GQ 0/1:51,8:50:-28.93,-15.06,-145.13:99 -chr1 3316355 . A G 40.11 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=6.42;MQ=53.40;MQ0=0;QD=0.79;SB=24.53 GT:AD:DP:GL:GQ 0/1:42,9:48:-21.76,-14.47,-159.00:72.94 -chr1 3316370 . G A 1.13 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=7.87;MQ=52.81;MQ0=0;OQ=530.25;QD=10.40;SB=-291.29 GT:AD:DP:GL:GQ 0/1:31,20:45:-69.88,-13.57,-88.85:99 -chr1 3316500 rs4648494 A G 396.15 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.41;MQ0=0;OQ=1411.68;QD=27.15;SB=-591.87 GT:AD:DP:GL:GQ 1/1:0,52:46:-144.80,-13.88,-0.05:99 -chr1 3316656 rs6670123 C G 292.55 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=1.36;MQ=56.33;MQ0=0;OQ=1404.84;QD=19.79;SB=-673.50 GT:AD:DP:GL:GQ 0/1:33,38:68:-164.26,-20.49,-128.05:99 -chr1 3316892 rs2493296 C T 338.29 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=59.07;MQ0=0;OQ=702.09;QD=14.04;SB=-332.51 GT:AD:DP:GL:GQ 0/1:27,23:46:-87.37,-13.87,-76.76:99 -chr1 3317409 rs1106270 A G 118.06 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.41;MQ0=0;OQ=1192.84;QD=30.59;SB=-537.44 GT:AD:DP:GL:GQ 1/1:0,39:35:-122.88,-10.54,-0.02:99 -chr1 3317462 rs1106271 T G 1.72 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=4;HaplotypeScore=1.32;MQ=56.98;MQ0=0;OQ=1224.22;QD=31.39;SB=-406.92 GT:AD:DP:GL:GQ 1/1:0,39:38:-126.04,-11.45,-0.03:99 -chr1 3317665 rs57382922 C T 121.84 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=3.88;MQ=57.50;MQ0=0;OQ=526.20;QD=15.48;SB=-279.22 GT:AD:DP:GL:GQ 0/1:15,19:32:-65.55,-9.65,-47.15:99 -chr1 3318218 rs870124 T C 46.45 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=2.76;MQ=58.35;MQ0=0;OQ=987.47;QD=31.85;SB=-495.44 GT:AD:DP:GL:GQ 1/1:0,30:29:-102.35,-8.74,-0.01:87.24 -chr1 3318519 rs2493292 C T 35.55 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=5.38;MQ=58.81;MQ0=0;OQ=410.88;QD=10.54;SB=-213.48 GT:AD:DP:GL:GQ 0/1:22,17:36:-55.22,-10.85,-74.55:99 -chr1 3319244 rs2493291 C T 128.26 PASS AC=1;AF=0.50;AN=2;DB;DP=13;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=57.07;MQ0=0;OQ=113.91;QD=8.76;SB=-36.64 GT:AD:DP:GL:GQ 0/1:8,5:13:-18.59,-3.92,-28.88:99 -chr1 3319441 . G A 108.40 PASS AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.89;MQ0=0;OQ=283.86;QD=13.52;SB=-108.97 GT:AD:DP:GL:GQ 0/1:11,10:21:-38.00,-6.33,-35.64:99 -chr1 3320120 . C T 102.17 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=60.00;MQ0=0;OQ=709.62;QD=14.78;SB=-362.53 GT:AD:DP:GL:GQ 0/1:24,23:45:-87.81,-13.57,-69.77:99 -chr1 3320537 rs2493290 G A 97.62 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=2.41;MQ=59.54;MQ0=0;OQ=872.79;QD=17.46;SB=-392.92 GT:AD:DP:GL:GQ 0/1:24,26:48:-105.02,-14.46,-80.60:99 -chr1 3320607 rs11578951 G A 205.49 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=56.45;MQ0=0;OQ=183.21;QD=9.16;SB=-114.08 GT:AD:DP:GL:GQ 0/1:13,7:17:-26.73,-5.12,-34.52:99 -chr1 3320622 rs2493289 A G 29.59 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=56.62;MQ0=0;OQ=591.39;QD=28.16;SB=-179.75 GT:AD:DP:GL:GQ 1/1:0,20:19:-62.74,-5.73,-0.02:57.13 -chr1 3320744 rs2493288 G A 319.17 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.00;MQ0=0;OQ=558.26;QD=13.29;SB=-286.76 GT:AD:DP:GL:GQ 0/1:23,19:41:-71.47,-12.36,-76.00:99 -chr1 3321412 rs60973157 G C 340.30 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=59.61;MQ0=0;OQ=1008.01;QD=17.08;SB=-510.27 GT:AD:DP:GL:GQ 0/1:31,28:58:-121.57,-17.48,-125.42:99 -chr1 3321593 rs2483228 T C 57.78 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=59.17;MQ0=0;OQ=862.49;QD=30.80;SB=-342.44 GT:AD:DP:GL:GQ 1/1:0,28:27:-89.85,-8.14,-0.02:81.21 -chr1 3321759 rs1999528 A G 88.85 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=1263.70;QD=30.82;SB=-424.24 GT:AD:DP:GL:GQ 1/1:0,41:41:-129.99,-12.37,-0.04:99 -chr1 3322543 rs2483229 T C 158.61 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.98;MQ0=0;OQ=401.83;QD=7.31;SB=-190.61 GT:AD:DP:GL:GQ 0/1:33,22:50:-58.54,-15.08,-123.40:99 -chr1 3322811 rs1889123 T C 57.71 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.68;MQ=60.00;MQ0=0;OQ=1553.51;QD=34.52;SB=-743.30 GT:AD:DP:GL:GQ 1/1:0,45:44:-158.95,-13.25,-0.01:99 -chr1 3323101 rs55713431 A G 0.68 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=4;HaplotypeScore=1.93;MQ=59.65;MQ0=0;OQ=422.62;QD=7.97;SB=-123.50 GT:AD:DP:GL:GQ 0/1:32,21:47:-59.71,-14.17,-112.42:99 -chr1 3323323 rs2068354 A G 160.11 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.65;MQ0=0;OQ=738.34;QD=11.36;SB=-391.91 GT:AD:DP:GL:GQ 0/1:34,31:64:-96.41,-19.29,-135.43:99 -chr1 3324752 rs2483230 A G 139.58 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=59.42;MQ0=0;OQ=1229.51;QD=30.74;SB=-406.34 GT:AD:DP:GL:GQ 1/1:0,40:38:-126.56,-11.45,-0.03:99 -chr1 3326060 rs1984069 C T 66.93 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=0.95;MQ=60.00;MQ0=0;OQ=2062.28;QD=37.50;SB=-721.47 GT:AD:DP:GL:GQ 1/1:0,55:53:-209.83,-15.97,-0.02:99 -chr1 3327403 rs1572040 A G 479.17 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1561.86;QD=33.95;SB=-803.63 GT:AD:DP:GL:GQ 1/1:0,46:45:-159.79,-13.56,-0.02:99 -chr1 3327481 . A G 13.29 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=1;HaplotypeScore=3.51;MQ=58.78;MQ0=0;OQ=805.84;QD=11.68;SB=-333.16 GT:AD:DP:GL:GQ 0/1:35,34:66:-103.76,-19.89,-136.42:99 -chr1 3327496 rs11579873 G A 76.54 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=5.52;MQ=59.07;MQ0=0;OQ=1231.78;QD=17.60;SB=-403.19 GT:AD:DP:GL:GQ 0/1:34,36:67:-146.65,-20.19,-102.53:99 -chr1 3328305 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=2;HaplotypeScore=9.54;MQ=57.05;MQ0=0;OQ=81.44;QD=1.66;SB=56.21 GT:AD:DP:GL:GQ 0/1:35,13:31:-20.79,-9.36,-100.83:99 -chr1 3328931 rs2483231 A G 0.45 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=2.58;MQ=57.64;MQ0=0;OQ=961.69;QD=26.71;SB=-96.83 GT:AD:DP:GL:GQ 1/1:0,35:29:-99.77,-8.74,-0.01:87.24 -chr1 3329199 rs10492937 C A 94.15 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=591.17;QD=15.16;SB=-220.88 GT:AD:DP:GL:GQ 0/1:18,21:38:-73.85,-11.45,-60.07:99 -chr1 3329740 . G T 6.44 PASS AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=1;HaplotypeScore=3.49;MQ=59.36;MQ0=0;OQ=539.79;QD=14.99;SB=-294.29 GT:AD:DP:GL:GQ 0/1:15,21:33:-67.21,-9.94,-47.46:99 -chr1 3329976 rs2483232 A G 146.59 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.83;MQ=59.54;MQ0=0;OQ=1387.79;QD=27.76;SB=-682.70 GT:AD:DP:GL:GQ 1/1:0,49:45:-142.42,-13.58,-0.05:99 -chr1 3330129 rs4648385 C T 62.27 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=59.51;MQ0=0;OQ=1421.02;QD=37.40;SB=-712.36 GT:AD:DP:GL:GQ 1/1:0,38:36:-145.70,-10.84,-0.01:99 -chr1 3330207 rs2483233 A G 536.88 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1265.03;QD=33.29;SB=-631.30 GT:AD:DP:GL:GQ 1/1:0,38:37:-130.10,-11.15,-0.02:99 -chr1 3330527 rs2483234 A G 229.57 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1088.75;QD=27.92;SB=-544.02 GT:AD:DP:GL:GQ 1/1:0,38:35:-112.49,-10.56,-0.04:99 -chr1 3330619 rs2483235 A G 461.47 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.29;MQ0=0;OQ=1699.01;QD=28.80;SB=-626.83 GT:AD:DP:GL:GQ 1/1:0,59:55:-173.55,-16.59,-0.06:99 -chr1 3330715 rs4648500 A C 461.04 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=59.69;MQ0=0;OQ=953.20;QD=15.63;SB=-476.30 GT:AD:DP:GL:GQ 0/1:28,33:61:-116.98,-18.37,-104.31:99 -chr1 3331400 rs2483236 C T 56.26 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=55.81;MQ0=0;OQ=1168.69;QD=36.52;SB=-534.21 GT:AD:DP:GL:GQ 1/1:0,31:30:-120.46,-9.04,-0.01:90.29 -chr1 3331651 rs1970118 A G 69.34 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=50.87;MQ0=0;OQ=938.62;QD=27.61;SB=-452.46 GT:AD:DP:GL:GQ 1/1:0,34:32:-97.49,-9.66,-0.04:96.17 -chr1 3331969 rs41303861 G T 165.88 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.33;MQ=56.82;MQ0=0;OQ=610.74;QD=12.99;SB=-193.66 GT:AD:DP:GL:GQ 0/1:23,24:44:-77.62,-13.26,-67.40:99 -chr1 3332390 rs2244013 G A 343.87 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.76;MQ=59.53;MQ0=0;OQ=624.83;QD=12.75;SB=-319.81 GT:AD:DP:GL:GQ 0/1:27,22:47:-79.93,-14.16,-96.24:99 -chr1 3332664 rs870171 G T 453.17 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.38;MQ0=0;OQ=726.05;QD=12.10;SB=-151.13 GT:AD:DP:GL:GQ 0/1:34,26:59:-93.67,-17.78,-105.77:99 -chr1 3333105 rs7549050 A G 414.31 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.44;MQ0=0;OQ=796.44;QD=10.62;SB=-292.01 GT:AD:DP:GL:GQ 0/1:42,33:74:-105.23,-22.30,-168.30:99 -chr1 3333795 rs55833861 T C 103.98 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=2.59;MQ=58.97;MQ0=0;OQ=717.11;QD=11.38;SB=-232.86 GT:AD:DP:GL:GQ 0/1:36,27:59:-92.78,-17.78,-129.42:99 -chr1 3333920 rs56196310 G T 246.95 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=59.56;MQ0=0;OQ=564.40;QD=10.65;SB=-293.98 GT:AD:DP:GL:GQ 0/1:32,21:49:-74.48,-14.76,-99.79:99 -chr1 3334336 rs61759212 A G 99.75 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.03;MQ=59.13;MQ0=0;OQ=418.37;QD=9.73;SB=-116.62 GT:AD:DP:GL:GQ 0/1:23,20:40:-57.18,-12.06,-85.13:99 -chr1 3334647 rs2483240 A G 15.04 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=55.38;MQ0=1;OQ=79.23;QD=3.96;SB=-53.29 GT:AD:DP:GL:GQ 0/1:13,7:16:-16.03,-4.82,-44.27:99 -chr1 3335005 rs2483242 A T 508.54 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.64;MQ0=0;OQ=469.82;QD=13.82;SB=-232.91 GT:AD:DP:GL:GQ 0/1:18,16:34:-60.51,-10.24,-69.68:99 -chr1 3335714 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=2;HaplotypeScore=9.36;MQ=57.49;MQ0=0;OQ=205.84;QD=4.57;SB=56.19 GT:AD:DP:GL:GQ 0/1:25,20:36:-34.71,-10.85,-86.86:99 -chr1 3336208 rs2493277 C G 559.81 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.46;MQ0=0;OQ=642.22;QD=14.94;SB=-326.21 GT:AD:DP:GL:GQ 0/1:23,20:42:-80.17,-12.66,-97.68:99 -chr1 3336263 rs11583353 C T 94.14 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.90;MQ0=0;OQ=708.85;QD=18.65;SB=-324.84 GT:AD:DP:GL:GQ 0/1:17,21:37:-85.32,-11.15,-51.45:99 -chr1 3339994 rs10752734 T C 155.05 PASS AC=2;AF=1.00;AN=2;DB;DP=17;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=27.27;MQ0=2;OQ=107.39;QD=6.32;SB=-10.00 GT:AD:DP:GL:GQ 1/1:8,9:4:-14.27,-1.20,-0.00:12.04 -chr1 3342087 rs1537406 T C 266.84 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=59.23;MQ0=0;OQ=2135.99;QD=33.90;SB=-825.32 GT:AD:DP:GL:GQ 1/1:0,63:60:-217.21,-18.07,-0.02:99 -chr1 3342088 rs12735779 G C 80.32 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=59.25;MQ0=0;OQ=2678.31;QD=41.20;SB=-987.13 GT:AD:DP:GL:GQ 1/1:0,65:62:-271.44,-18.68,-0.02:99 -chr1 3342207 rs1537405 T C 92.45 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.80;MQ=60.00;MQ0=0;OQ=1223.31;QD=28.45;SB=-485.50 GT:AD:DP:GL:GQ 1/1:0,43:40:-125.96,-12.07,-0.04:99 -chr1 3342363 rs1537404 G C 0.18 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=4;HaplotypeScore=2.53;MQ=57.71;MQ0=0;OQ=1605.19;QD=37.33;SB=-574.94 GT:AD:DP:GL:GQ 1/1:0,43:39:-164.12,-11.76,-0.02:99 -chr1 3342401 rs1065247 T C 218.93 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=58.89;MQ0=0;OQ=523.80;QD=12.47;SB=-250.33 GT:AD:DP:GL:GQ 0/1:20,21:38:-67.12,-11.46,-67.07:99 -chr1 3342439 rs1537402 T C 329.15 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.61;MQ0=0;OQ=1390.94;QD=29.59;SB=-663.80 GT:AD:DP:GL:GQ 1/1:0,47:44:-142.72,-13.27,-0.04:99 -chr1 3342644 rs2493267 A G 426.47 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=1871.16;QD=31.71;SB=-785.23 GT:AD:DP:GL:GQ 1/1:0,59:54:-190.73,-16.27,-0.03:99 -chr1 3342725 rs35015571 C T 160.86 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=59.43;MQ0=0;OQ=266.00;QD=8.06;SB=-157.61 GT:AD:DP:GL:GQ 0/1:23,10:28:-38.32,-8.44,-61.48:99 -chr1 3342732 rs2236518 A C 16.29 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=2;HaplotypeScore=2.32;MQ=59.45;MQ0=0;OQ=611.30;QD=17.98;SB=-246.93 GT:AD:DP:GL:GQ 0/1:10,24:30:-73.45,-9.04,-31.78:99 -chr1 3343497 rs35837267 G A 179.26 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=1.81;MQ=58.20;MQ0=0;OQ=412.37;QD=12.13;SB=-230.72 GT:AD:DP:GL:GQ 0/1:20,14:34:-54.77,-10.25,-72.54:99 -chr1 3343750 rs2493265 A G 92.52 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.09;MQ0=0;OQ=1343.75;QD=27.42;SB=-616.98 GT:AD:DP:GL:GQ 1/1:0,49:43:-138.00,-12.97,-0.04:99 -chr1 3343809 rs2493264 A G 123.80 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.40;MQ=58.91;MQ0=0;OQ=1865.11;QD=29.14;SB=-622.24 GT:AD:DP:GL:GQ 1/1:0,64:61:-190.17,-18.41,-0.07:99 -chr1 3344455 rs2483249 T C 577.76 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2266.24;QD=31.92;SB=-1078.24 GT:AD:DP:GL:GQ 1/1:0,71:70:-230.26,-21.11,-0.05:99 -chr1 3344475 rs2493263 T C 726.67 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2858.56;QD=35.29;SB=-1249.13 GT:AD:DP:GL:GQ 1/1:0,81:80:-289.47,-24.10,-0.03:99 -chr1 3345122 rs55729137 G A 38.39 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=59.48;MQ0=0;OQ=807.80;QD=18.36;SB=-199.91 GT:AD:DP:GL:GQ 0/1:20,24:42:-96.73,-12.66,-57.09:99 -chr1 3346265 rs2483250 A C 12.02 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=3;HaplotypeScore=0.89;MQ=59.52;MQ0=0;OQ=1256.35;QD=32.21;SB=-315.07 GT:AD:DP:GL:GQ 1/1:0,39:37:-129.23,-11.15,-0.01:99 -chr1 3346495 rs2483251 T C 2.80 PASS AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;HRun=2;HaplotypeScore=1.13;MQ=60.00;MQ0=0;OQ=525.69;QD=27.67;SB=-225.75 GT:AD:DP:GL:GQ 1/1:0,19:16:-56.16,-4.82,-0.01:48.13 -chr1 3346655 rs2493262 C G 18.99 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=2;HaplotypeScore=2.19;MQ=59.17;MQ0=0;OQ=878.66;QD=31.38;SB=-427.67 GT:AD:DP:GL:GQ 1/1:0,27:23:-91.47,-6.94,-0.02:69.23 -chr1 3346875 rs12745100 C T 10.66 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=496.33;QD=18.38;SB=-39.63 GT:AD:DP:GL:GQ 0/1:12,15:27:-61.05,-8.13,-42.91:99 -chr1 3347097 rs55892133 A G 803.11 Indel AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=3.17;MQ=58.79;MQ0=0;QD=12.55;SB=-200.20 GT:AD:DP:GL:GQ 0/1:34,30:60:-101.69,-18.09,-118.87:99 -chr1 3347896 rs10797392 T G 467.03 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.49;MQ0=1;OQ=720.09;QD=12.20;SB=-372.76 GT:AD:DP:GL:GQ 0/1:27,32:54:-91.57,-16.27,-88.57:99 -chr1 3348782 rs2483252 G C 20.05 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=1.07;MQ=58.41;MQ0=0;OQ=1754.48;QD=39.87;SB=-676.45 GT:AD:DP:GL:GQ 1/1:0,43:42:-179.05,-12.66,-0.02:99 -chr1 3348792 rs35536718 C G 187.57 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=58.60;MQ0=0;OQ=722.68;QD=14.45;SB=-275.28 GT:AD:DP:GL:GQ 0/1:28,22:46:-89.42,-13.87,-106.46:99 -chr1 3349040 rs2493261 C G 241.62 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.46;MQ0=0;OQ=2328.68;QD=40.85;SB=-454.11 GT:AD:DP:GL:GQ 1/1:0,57:55:-236.48,-16.59,-0.03:99 -chr1 3349142 rs56009352 G T 195.97 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=58.75;MQ0=0;OQ=381.64;QD=9.09;SB=-161.15 GT:AD:DP:GL:GQ 0/1:24,18:38:-52.90,-11.45,-81.46:99 -chr1 3349843 rs11588737 T C 126.31 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.70;MQ0=0;OQ=680.83;QD=8.96;SB=-348.93 GT:AD:DP:GL:GQ 0/1:44,32:72:-93.07,-21.70,-169.44:99 -chr1 3349896 rs9424295 C A 298.32 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=58.90;MQ0=0;OQ=883.58;QD=12.27;SB=-371.71 GT:AD:DP:GL:GQ 0/1:40,32:69:-112.42,-20.78,-136.87:99 -chr1 3350654 . A G 19.67 PASS AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=0;HaplotypeScore=4.82;MQ=58.94;MQ0=0;OQ=752.06;QD=11.22;SB=-353.94 GT:AD:DP:GL:GQ 0/1:36,30:64:-97.78,-19.29,-134.25:99 -chr1 3350874 rs2493260 A T 152.74 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=1881.55;QD=33.01;SB=-813.90 GT:AD:DP:GL:GQ 1/1:0,54:52:-191.76,-15.67,-0.02:99 -chr1 3351164 rs2483254 G A 165.18 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.02;MQ=57.99;MQ0=0;OQ=1923.46;QD=34.35;SB=-708.45 GT:AD:DP:GL:GQ 1/1:0,56:52:-195.97,-15.68,-0.04:99 -chr1 3351668 rs61759222 T C 292.32 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.16;MQ0=0;OQ=649.71;QD=12.99;SB=-320.27 GT:AD:DP:GL:GQ 0/1:27,23:50:-83.32,-15.07,-104.64:99 -chr1 3351675 rs61759223 T C 215.70 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.56;MQ0=0;OQ=453.74;QD=8.73;SB=-214.35 GT:AD:DP:GL:GQ 0/1:31,21:51:-64.03,-15.38,-121.39:99 -chr1 3351951 rs61759224 A G 132.94 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=58.69;MQ0=0;OQ=462.74;QD=9.25;SB=-204.32 GT:AD:DP:GL:GQ 0/1:29,21:49:-64.32,-14.77,-119.90:99 -chr1 3352116 rs867814 C T 338.36 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.66;MQ0=0;OQ=1015.19;QD=15.15;SB=-259.14 GT:AD:DP:GL:GQ 0/1:34,33:66:-124.69,-19.89,-112.54:99 -chr1 3352233 rs55781247 C T 0.43 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=12.27;MQ=55.55;MQ0=1;OQ=438.31;QD=8.59;SB=-227.00 GT:AD:DP:GL:GQ 0/1:27,22:35:-60.74,-13.63,-60.12:99 -chr1 3352662 . G C 94.32 PASS AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=58.30;MQ0=0;OQ=750.60;QD=12.94;SB=-224.33 GT:AD:DP:GL:GQ 0/1:34,23:56:-95.22,-16.87,-149.91:99 -chr1 3353096 rs11808277 C G 337.37 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.63;MQ0=0;OQ=1053.89;QD=17.00;SB=-489.21 GT:AD:DP:GL:GQ 0/1:30,32:59:-126.45,-17.78,-131.54:99 -chr1 3353132 . G A 167.12 PASS AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.73;MQ0=0;OQ=1096.75;QD=16.13;SB=-431.84 GT:AD:DP:GL:GQ 0/1:34,34:67:-133.15,-20.19,-109.37:99 -chr1 3353327 rs10158332 A T 108.69 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=58.82;MQ0=0;OQ=1002.21;QD=14.12;SB=-515.47 GT:AD:DP:GL:GQ 0/1:38,33:71:-124.89,-21.39,-148.24:99 -chr1 3353449 rs10157570 G A 490.96 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=905.02;QD=15.88;SB=-430.82 GT:AD:DP:GL:GQ 0/1:30,27:56:-110.66,-16.88,-93.98:99 -chr1 3353662 rs2483255 A T 46.49 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=4.02;MQ=59.30;MQ0=0;OQ=2470.87;QD=37.44;SB=-912.35 GT:AD:DP:GL:GQ 1/1:0,66:64:-250.68,-19.27,-0.01:99 -chr1 3353786 rs2493258 A G 307.10 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.56;MQ0=0;OQ=1182.18;QD=13.91;SB=-595.40 GT:AD:DP:GL:GQ 0/1:39,46:85:-147.12,-25.62,-159.37:99 -chr1 3354380 rs61759225 T C 235.67 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=60.00;MQ0=0;OQ=921.81;QD=12.29;SB=-424.06 GT:AD:DP:GL:GQ 0/1:42,33:74:-117.76,-22.29,-166.03:99 -chr1 3354597 rs2263010 T C 533.81 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=2222.94;QD=35.85;SB=-1114.11 GT:AD:DP:GL:GQ 1/1:0,62:62:-225.90,-18.68,-0.02:99 -chr1 3354829 rs61759226 A T 251.14 PASS AC=1;AF=0.50;AN=2;DB;DP=100;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.16;MQ0=0;OQ=1748.33;QD=17.48;SB=-874.02 GT:AD:DP:GL:GQ 0/1:46,54:99:-207.93,-29.81,-176.30:99 -chr1 3355107 rs4648386 A G 12.08 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=59.31;MQ0=0;OQ=1773.45;QD=34.77;SB=-505.48 GT:AD:DP:GL:GQ 1/1:0,51:51:-180.95,-15.36,-0.02:99 -chr1 3355113 rs61759227 G A 0.86 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=6.85;MQ=58.80;MQ0=0;OQ=911.32;QD=18.60;SB=-216.88 GT:AD:DP:GL:GQ 0/1:22,27:48:-108.87,-14.46,-75.78:99 -chr1 3355993 rs55913848 G T 115.65 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=58.15;MQ0=0;OQ=1046.84;QD=16.62;SB=-492.93 GT:AD:DP:GL:GQ 0/1:29,34:61:-126.34,-18.38,-91.26:99 -chr1 3356353 rs2096102 C A 344.49 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.20;MQ=61.19;MQ0=0;OQ=1204.86;QD=17.21;SB=-565.00 GT:AD:DP:GL:GQ 0/1:30,40:67:-143.95,-20.18,-94.79:99 -chr1 3356461 . G A 34.92 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=0;HaplotypeScore=63.59;MQ=46.78;MQ0=1;QD=0.83;SB=-40.97 GT:AD:DP:GL:GQ 0/1:36,6:34:-17.03,-10.25,-100.31:67.76 -chr1 3356464 . T G 27.11 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=13.28;MQ=49.36;MQ0=1;QD=0.85;SB=-38.91 GT:AD:DP:GL:GQ 0/1:28,4:29:-14.73,-8.74,-84.74:59.94 -chr1 3356466 . G T 324.76 SnpCluster AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=0;HaplotypeScore=10.60;MQ=48.57;MQ0=1;QD=10.83;SB=-127.64 GT:AD:DP:GL:GQ 0/1:15,15:26:-43.60,-7.84,-42.90:99 -chr1 3357640 rs2487679 A G 123.35 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.76;MQ=59.32;MQ0=0;OQ=2260.98;QD=33.25;SB=-697.21 GT:AD:DP:GL:GQ 1/1:0,68:67:-229.71,-20.18,-0.03:99 -chr1 3357895 rs6697669 T C 43.42 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.03;HRun=0;HaplotypeScore=3.79;MQ=57.15;MQ0=0;OQ=335.02;QD=10.15;SB=-38.93 GT:AD:DP:GL:GQ 0/1:18,13:30:-45.82,-9.04,-67.57:99 -chr1 3357991 rs4648501 G A 122.29 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.97;MQ0=0;OQ=545.72;QD=10.70;SB=-291.79 GT:AD:DP:GL:GQ 0/1:33,18:50:-72.92,-15.06,-113.74:99 -chr1 3358003 rs2487670 G A 120.25 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=59.77;MQ0=0;OQ=1144.78;QD=22.01;SB=-472.53 GT:AD:DP:GL:GQ 0/1:18,34:50:-132.83,-15.07,-51.40:99 -chr1 3358201 rs55902179 A G 118.16 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=60.00;MQ0=0;OQ=620.71;QD=14.78;SB=-241.29 GT:AD:DP:GL:GQ 0/1:20,22:41:-77.71,-12.35,-78.03:99 -chr1 3359613 rs2487668 G A 227.96 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=59.61;MQ0=0;OQ=985.10;QD=16.70;SB=-425.79 GT:AD:DP:GL:GQ 0/1:26,32:57:-118.97,-17.18,-94.23:99 -chr1 3359684 rs34681041 A G 13.72 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=2;HaplotypeScore=1.71;MQ=60.00;MQ0=0;OQ=330.72;QD=8.70;SB=-110.60 GT:AD:DP:GL:GQ 0/1:21,17:34:-46.60,-10.25,-79.14:99 -chr1 3361330 . G C 0.29 PASS AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=68.48;QD=6.85;SB=-10.00 GT:AD:DP:GL:GQ 0/1:6,4:9:-12.85,-2.72,-22.16:99 -chr1 3361841 rs55858614 G C 94.38 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=58.70;MQ0=0;OQ=503.58;QD=17.36;SB=-238.39 GT:AD:DP:GL:GQ 0/1:14,15:29:-62.38,-8.74,-58.19:99 -chr1 3362331 rs10909946 A C 12.50 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=3;HaplotypeScore=2.71;MQ=58.18;MQ0=0;OQ=655.84;QD=12.15;SB=-228.89 GT:AD:DP:GL:GQ 0/1:26,28:47:-83.03,-14.16,-81.70:99 -chr1 3362529 rs61759232 T C 1.77 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=3;HaplotypeScore=3.67;MQ=58.99;MQ0=0;OQ=549.81;QD=11.95;SB=-107.61 GT:AD:DP:GL:GQ 0/1:22,24:42:-70.93,-12.66,-83.77:99 -chr1 3362717 . A G 41.71 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=1;HaplotypeScore=2.52;MQ=59.65;MQ0=0;OQ=773.42;QD=14.59;SB=-374.28 GT:AD:DP:GL:GQ 0/1:23,30:49:-95.39,-14.76,-86.55:99 -chr1 3363471 rs56365322 C G 249.90 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.24;MQ0=0;OQ=638.66;QD=11.61;SB=-240.06 GT:AD:DP:GL:GQ 0/1:30,25:50:-82.23,-15.08,-125.58:99 -chr1 3363827 rs2493256 A G 265.69 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=58.48;MQ0=0;OQ=531.11;QD=12.35;SB=-221.59 GT:AD:DP:GL:GQ 0/1:23,19:42:-71.22,-14.82,-89.22:99 -chr1 3364220 rs12745860 C T 264.50 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=58.78;MQ0=0;OQ=718.26;QD=12.60;SB=-212.70 GT:AD:DP:GL:GQ 0/1:33,24:53:-91.09,-15.98,-94.23:99 -chr1 3364244 rs12758368 T A 250.46 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=1.60;MQ=59.27;MQ0=0;OQ=910.80;QD=14.46;SB=-359.58 GT:AD:DP:GL:GQ 0/1:33,30:62:-113.04,-18.68,-119.17:99 -chr1 3364803 rs56242281 A G 70.18 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=3.36;MQ=59.30;MQ0=0;OQ=300.82;QD=9.12;SB=-84.67 GT:AD:DP:GL:GQ 0/1:18,14:30:-42.41,-9.04,-64.59:99 -chr1 3365228 rs61759235 A G 136.44 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=58.63;MQ0=0;OQ=478.85;QD=9.39;SB=-239.48 GT:AD:DP:GL:GQ 0/1:30,21:48:-65.63,-14.46,-116.95:99 -chr1 3365583 rs61759236 C G 131.55 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=835.90;QD=18.58;SB=-383.86 GT:AD:DP:GL:GQ 0/1:22,23:43:-99.85,-12.97,-77.78:99 -chr1 3366053 rs61759237 C T 131.92 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=735.43;QD=17.10;SB=-313.83 GT:AD:DP:GL:GQ 0/1:21,22:42:-89.48,-12.65,-70.75:99 -chr1 3366393 rs12059504 T C 302.48 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=60.00;MQ0=0;OQ=609.78;QD=12.70;SB=-240.29 GT:AD:DP:GL:GQ 0/1:24,24:48:-78.73,-14.47,-96.53:99 -chr1 3366983 rs59183260 C T 199.73 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.76;MQ=59.56;MQ0=0;OQ=586.61;QD=13.97;SB=-272.28 GT:AD:DP:GL:GQ 0/1:22,20:39:-73.71,-11.76,-62.95:99 -chr1 3367203 rs2487681 T C 222.79 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.70;MQ=60.00;MQ0=0;OQ=351.40;QD=8.79;SB=-154.93 GT:AD:DP:GL:GQ 0/1:22,18:38:-49.88,-11.46,-85.17:99 -chr1 3372040 rs10909947 G T 39.70 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=58.75;MQ0=0;OQ=1667.04;QD=35.47;SB=-355.84 GT:AD:DP:GL:GQ 1/1:0,47:46:-170.30,-13.86,-0.01:99 -chr1 3372773 . T G 28.89 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=2;HaplotypeScore=4.07;MQ=59.49;MQ0=0;QD=0.64;SB=56.17 GT:AD:DP:GL:GQ 0/1:32,13:34:-16.42,-10.24,-99.13:61.72 -chr1 3372898 rs947351 G A 372.12 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.19;MQ0=0;OQ=649.44;QD=12.49;SB=-216.21 GT:AD:DP:GL:GQ 0/1:28,24:49:-83.00,-14.77,-93.12:99 -chr1 3373453 rs3893316 G T 349.34 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=441.10;QD=14.70;SB=-201.58 GT:AD:DP:GL:GQ 0/1:13,17:29:-56.13,-8.74,-43.76:99 -chr1 3373525 rs7550948 G A 64.51 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.53;MQ0=0;OQ=1066.26;QD=21.76;SB=-418.80 GT:AD:DP:GL:GQ 0/1:18,31:47:-124.08,-14.17,-50.84:99 -chr1 3373758 rs6424078 A G 63.51 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=2.28;MQ=58.45;MQ0=0;OQ=303.09;QD=10.10;SB=-109.62 GT:AD:DP:GL:GQ 0/1:15,15:29:-42.34,-8.75,-57.35:99 -chr1 3373912 rs45512802 C T 115.92 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=1.77;MQ=58.81;MQ0=0;OQ=487.90;QD=12.51;SB=-154.65 GT:AD:DP:GL:GQ 0/1:21,18:37:-63.22,-11.15,-77.33:99 -chr1 3374091 rs6667361 A G 15.86 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=3;HaplotypeScore=1.91;MQ=58.45;MQ0=0;OQ=441.93;QD=9.82;SB=-196.52 GT:AD:DP:GL:GQ 0/1:26,19:43:-60.43,-12.96,-100.55:99 -chr1 3374466 rs7522513 A G 114.35 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=58.36;MQ0=0;OQ=449.01;QD=11.23;SB=-195.64 GT:AD:DP:GL:GQ 0/1:20,20:37:-59.34,-11.16,-69.75:99 -chr1 3374989 rs2493250 G A 285.91 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=59.52;MQ0=0;OQ=823.07;QD=17.15;SB=-412.42 GT:AD:DP:GL:GQ 0/1:23,25:48:-100.06,-14.47,-73.79:99 -chr1 3374999 rs2487673 G T 438.47 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.49;MQ0=0;OQ=759.07;QD=16.87;SB=-384.82 GT:AD:DP:GL:GQ 0/1:19,26:45:-92.75,-13.56,-63.83:99 -chr1 3375110 rs1417897 C A 224.44 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=57.71;MQ0=0;OQ=613.48;QD=15.73;SB=-271.51 GT:AD:DP:GL:GQ 0/1:18,21:37:-75.78,-11.15,-51.34:99 -chr1 3375116 rs1891143 A G 122.77 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=57.71;MQ0=0;OQ=346.85;QD=8.89;SB=-128.27 GT:AD:DP:GL:GQ 0/1:22,17:35:-48.52,-10.55,-81.11:99 -chr1 3375190 rs2493249 T C 0.27 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=3;HaplotypeScore=2.59;MQ=59.45;MQ0=0;OQ=889.42;QD=26.16;SB=-381.39 GT:AD:DP:GL:GQ 1/1:0,34:28:-92.55,-8.44,-0.02:84.20 -chr1 3377520 . G A 54.48 PASS AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.18;MQ=60.00;MQ0=0;OQ=404.10;QD=10.92;SB=-123.57 GT:AD:DP:GL:GQ 0/1:21,16:32:-53.34,-9.65,-57.04:99 -chr1 3379133 rs2298082 T C 273.90 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=1.53;MQ=58.32;MQ0=0;OQ=528.06;QD=13.20;SB=-222.68 GT:AD:DP:GL:GQ 0/1:19,21:37:-67.24,-11.15,-73.98:99 -chr1 3379181 rs2487687 C T 16.32 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=60.00;MQ0=0;OQ=545.94;QD=21.00;SB=-232.27 GT:AD:DP:GL:GQ 0/1:9,17:25:-65.41,-7.53,-31.41:99 -chr1 3379587 rs2185639 C T 119.32 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=58.13;MQ0=0;OQ=232.01;QD=9.28;SB=-26.61 GT:AD:DP:GL:GQ 0/1:14,10:22:-33.12,-6.63,-45.28:99 -chr1 3380098 rs2493323 T A 210.96 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.76;MQ0=0;OQ=1873.41;QD=38.23;SB=-364.88 GT:AD:DP:GL:GQ 1/1:0,49:49:-190.94,-14.76,-0.01:99 -chr1 3380882 rs2493322 G A 155.52 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.57;MQ0=0;OQ=666.25;QD=12.34;SB=-269.17 GT:AD:DP:GL:GQ 0/1:33,21:52:-85.58,-15.67,-103.39:99 -chr1 3381466 . A G 34.09 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=1;HaplotypeScore=1.23;MQ=18.93;MQ0=48;QD=0.47;SB=2.04 GT:AD:DP:GL:GQ 0/1:58,15:13:-10.61,-3.92,-40.00:66.92 -chr1 3381536 rs2493320 G A 66.96 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=9.35;MQ0=30;OQ=163.18;QD=3.98;SB=-10.00 GT:AD:DP:GL:GQ 1/1:12,29:5:-19.88,-1.51,-0.00:15.05 -chr1 3381776 rs56863381 G A 0.39 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=12.80;MQ0=34;OQ=57.75;QD=1.03;SB=5.02 GT:AD:DP:GL:GQ 0/1:40,16:11:-12.38,-3.32,-24.49:90.59 -chr1 3382016 . A G 35.80 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=12.28;MQ0=39;QD=0.55;SB=-10.00 GT:AD:DP:GL:GQ 0/1:54,11:16:-11.69,-4.82,-49.41:68.63 -chr1 3382186 rs2493318 A G 275.57 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=47.26;MQ0=1;OQ=747.71;QD=13.35;SB=-372.26 GT:AD:DP:GL:GQ 0/1:27,29:52:-93.72,-15.67,-105.01:99 -chr1 3382897 rs12124163 G T 198.71 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=59.56;MQ0=0;OQ=598.86;QD=14.26;SB=-222.53 GT:AD:DP:GL:GQ 0/1:21,21:41:-75.52,-12.35,-66.44:99 -chr1 3383727 rs10797394 G A 171.07 DPFilter;Indel AC=1;AF=0.50;AN=2;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=49.26;MQ0=0;QD=13.16;SB=8.03 GT:AD:DP:GL:GQ 0/1:7,6:12:-24.01,-3.62,-19.11:99 -chr1 3383981 rs56341824 G T 14.44 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=1.70;MQ=59.25;MQ0=0;OQ=147.62;QD=5.90;SB=-6.99 GT:AD:DP:GL:GQ 0/1:17,8:23:-24.98,-6.93,-50.77:99 -chr1 3384110 rs10909948 C T 220.05 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=54.75;MQ0=0;OQ=493.02;QD=17.00;SB=-263.55 GT:AD:DP:GL:GQ 0/1:13,16:28:-61.02,-8.44,-45.99:99 -chr1 3384316 rs4638054 T C 12.90 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.07;MQ0=0;OQ=1239.78;QD=27.55;SB=-421.16 GT:AD:DP:GL:GQ 1/1:0,45:41:-127.61,-12.37,-0.05:99 -chr1 3384500 rs4422946 A G 10.27 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=2;HaplotypeScore=1.93;MQ=60.00;MQ0=0;OQ=259.70;QD=9.27;SB=-73.94 GT:AD:DP:GL:GQ 0/1:16,12:25:-36.79,-7.54,-56.39:99 -chr1 3384534 rs4534324 T C 47.15 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.99;MQ0=0;OQ=674.08;QD=29.31;SB=-343.44 GT:AD:DP:GL:GQ 1/1:0,23:22:-71.01,-6.63,-0.02:66.16 -chr1 3384899 rs10797395 G A 51.14 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=4.52;MQ=59.38;MQ0=0;OQ=712.83;QD=19.27;SB=-338.87 GT:AD:DP:GL:GQ 0/1:16,21:35:-85.11,-10.54,-50.14:99 -chr1 3385089 rs4553117 T C 310.38 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.76;MQ0=0;OQ=892.31;QD=26.24;SB=-387.26 GT:AD:DP:GL:GQ 1/1:0,34:29:-92.85,-8.75,-0.03:87.19 -chr1 3385248 rs28568519 C G 124.68 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=2.55;MQ=59.45;MQ0=0;OQ=725.71;QD=17.28;SB=-286.30 GT:AD:DP:GL:GQ 0/1:20,22:38:-87.31,-11.46,-71.37:99 -chr1 3386469 rs881978 C T 144.12 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=2.64;MQ=59.25;MQ0=0;OQ=1109.69;QD=19.82;SB=-578.43 GT:AD:DP:GL:GQ 0/1:23,33:55:-130.82,-16.57,-79.57:99 -chr1 3386922 rs56309807 G A 10.71 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=6.20;MQ=58.23;MQ0=0;OQ=434.23;QD=11.74;SB=-179.25 GT:AD:DP:GL:GQ 0/1:20,16:31:-56.05,-9.34,-54.39:99 -chr1 3387048 rs2487677 T C 22.85 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=1.93;MQ=58.11;MQ0=0;OQ=1498.47;QD=31.88;SB=-723.23 GT:AD:DP:GL:GQ 1/1:0,46:43:-153.45,-12.96,-0.02:99 -chr1 3387315 rs1051515 G A 124.17 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.61;MQ=59.55;MQ0=0;OQ=661.19;QD=15.03;SB=-242.52 GT:AD:DP:GL:GQ 0/1:21,23:41:-81.76,-12.36,-69.63:99 -chr1 3387424 rs1051517 C T 185.79 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=59.57;MQ0=0;OQ=722.32;QD=16.80;SB=-358.40 GT:AD:DP:GL:GQ 0/1:21,22:42:-88.17,-12.66,-71.34:99 -chr1 3387765 rs2487676 G C 0.92 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=1.72;MQ=59.56;MQ0=0;OQ=985.55;QD=23.47;SB=-402.96 GT:AD:DP:GL:GQ 0/1:13,29:39:-113.61,-11.77,-48.31:99 -chr1 3387785 rs10797396 G A 343.20 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.58;MQ0=0;OQ=869.16;QD=19.75;SB=-452.50 GT:AD:DP:GL:GQ 0/1:15,29:41:-102.56,-12.36,-46.08:99 -chr1 3388739 . G C 3.92 PASS AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=47.12;MQ0=0;OQ=99.91;QD=7.14;SB=-0.98 GT:AD:DP:GL:GQ 0/1:10,4:13:-17.20,-3.93,-33.90:99 -chr1 3388844 rs11579276 C T 89.01 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=60.00;MQ0=0;OQ=228.92;QD=8.80;SB=-0.98 GT:AD:DP:GL:GQ 0/1:16,10:21:-32.51,-6.33,-40.91:99 -chr1 3389315 rs2493316 T C 332.07 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.28;MQ0=0;OQ=364.79;QD=11.40;SB=-143.65 GT:AD:DP:GL:GQ 0/1:18,14:32:-49.41,-9.65,-68.22:99 -chr1 3390585 rs12124659 C T 210.63 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.96;MQ0=0;OQ=1350.80;QD=37.52;SB=-227.30 GT:AD:DP:GL:GQ 1/1:0,36:35:-138.68,-10.55,-0.01:99 -chr1 3391131 rs2487674 A G 49.46 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=60.00;MQ0=0;OQ=2482.25;QD=31.82;SB=-1068.16 GT:AD:DP:GL:GQ 1/1:0,78:76:-251.87,-22.92,-0.06:99 -chr1 3392093 rs4648504 C T 77.49 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=3.60;MQ=53.45;MQ0=1;OQ=1952.99;QD=36.17;SB=-850.15 GT:AD:DP:GL:GQ 1/1:1,53:50:-198.90,-15.06,-0.02:99 -chr1 3394087 rs2821041 C T 330.28 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=59.75;MQ0=0;OQ=1098.32;QD=14.64;SB=-325.80 GT:AD:DP:GL:GQ 0/1:41,34:73:-135.10,-21.99,-140.04:99 -chr1 3394997 rs61759244 C G 135 PASS AC=1;AF=0.50;AN=2;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=59.37;MQ0=0;OQ=1716.91;QD=17.88;SB=-792.82 GT:AD:DP:GL:GQ 0/1:43,53:93:-203.04,-28.07,-171.23:99 -chr1 3395156 rs4648505 T C 309 PASS AC=1;AF=0.50;AN=2;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=59.51;MQ0=0;OQ=921.20;QD=9.70;SB=-319.80 GT:AD:DP:GL:GQ 0/1:57,38:95:-124.03,-28.62,-233.81:99 -chr1 3401826 rs2821034 T C 25.42 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=5.69;MQ=57.22;MQ0=0;OQ=336.60;QD=15.30;SB=-157.73 GT:AD:DP:GL:GQ 1/1:0,21:12:-37.26,-3.62,-0.02:36.06 -chr1 3406983 . G A 147.34 PASS AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=493.27;QD=14.51;SB=-172.20 GT:AD:DP:GL:GQ 0/1:17,17:33:-62.55,-9.94,-60.75:99 -chr1 3408031 rs7516662 A G 45.84 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=1.10;MQ=59.41;MQ0=0;OQ=599.81;QD=15.38;SB=-119.66 GT:AD:DP:GL:GQ 0/1:18,21:37:-74.41,-11.15,-64.16:99 -chr1 3408425 rs2821030 T C 291.53 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=44.95;MQ0=0;OQ=775.65;QD=13.61;SB=-335.17 GT:AD:DP:GL:GQ 0/1:17,40:43:-93.82,-12.97,-49.21:99 -chr1 3408438 rs56284135 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=5;HaplotypeScore=43.60;MQ=44.49;MQ0=0;OQ=630.57;QD=9.70;SB=-139.40 GT:AD:DP:GL:GQ 0/1:28,36:49:-81.11,-14.77,-94.33:99 -chr1 3408476 rs57408931 G C 181.30 DPFilter;Indel AC=1;AF=0.50;AN=2;DB;DP=164;Dels=0.03;HRun=1;HaplotypeScore=218.91;MQ=41.51;MQ0=3;QD=1.11;SB=-63.16 GT:AD:DP:GL:GQ 0/1:117,24:115:-89.58,-68.17,-379.21:99 -chr1 3408478 rs57082253 G A 513.03 DPFilter;Indel AC=1;AF=0.50;AN=2;DB;DP=180;Dels=0.00;HRun=0;HaplotypeScore=193.59;MQ=41.21;MQ0=2;QD=2.85;SB=-274.73 GT:AD:DP:GL:GQ 0/1:134,38:129:-95.85,-41.26,-324.12:99 -chr1 3408517 rs7368034 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=115;Dels=0.00;HRun=0;HaplotypeScore=120.54;MQ=42.22;MQ0=3;OQ=514.65;QD=4.48;SB=-116.36 GT:AD:DP:GL:GQ 0/1:73,33:82:-88.72,-33.97,-192.96:99 -chr1 3411446 rs6669870 C T 607.77 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.14;MQ0=0;OQ=1485.27;QD=36.23;SB=-614.81 GT:AD:DP:GL:GQ 1/1:0,41:39:-152.13,-11.76,-0.02:99 -chr1 3411518 rs2821009 A T 529.19 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=51.77;MQ0=0;OQ=1252.41;QD=34.79;SB=-623.61 GT:AD:DP:GL:GQ 1/1:0,36:35:-128.84,-10.55,-0.01:99 -chr1 3411757 rs2821008 A G 31.18 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=1.15;MQ=59.41;MQ0=0;OQ=238.32;QD=6.11;SB=-110.60 GT:AD:DP:GL:GQ 0/1:25,14:37:-38.27,-11.15,-99.52:99 -chr1 3413327 rs947344 C T 169.75 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=3.94;MQ=58.66;MQ0=0;OQ=1006.19;QD=19.35;SB=-478.56 GT:AD:DP:GL:GQ 0/1:21,31:45:-117.47,-13.57,-45.94:99 -chr1 3413493 rs2821006 A G 514.34 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=1416.92;QD=30.15;SB=-704.80 GT:AD:DP:GL:GQ 1/1:0,47:45:-145.32,-13.57,-0.04:99 -chr1 3413602 rs10797397 C A 230.35 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.01;MQ=59.11;MQ0=0;OQ=969.58;QD=16.43;SB=-386.82 GT:AD:DP:GL:GQ 0/1:25,34:55:-116.81,-16.57,-75.73:99 -chr1 3414248 rs947345 G A 253.45 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.28;MQ=59.23;MQ0=0;OQ=855.83;QD=14.26;SB=-381.90 GT:AD:DP:GL:GQ 0/1:31,29:53:-104.84,-15.98,-85.70:99 -chr1 3415290 rs2794358 A G 117.33 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1082.49;QD=30.93;SB=-492.45 GT:AD:DP:GL:GQ 1/1:0,35:32:-111.85,-9.64,-0.02:96.25 -chr1 3416927 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=1;HaplotypeScore=20.42;MQ=57.31;MQ0=0;OQ=341.32;QD=7.11;SB=-84.89 GT:AD:DP:GL:GQ 0/1:26,19:38:-51.91,-14.49,-87.40:99 -chr1 3416981 rs56310990 G C 2.17 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=51.26;MQ0=0;OQ=93.69;QD=3.02;SB=-14.81 GT:AD:DP:GL:GQ 0/1:25,6:25:-20.20,-7.54,-81.40:99 -chr1 3416998 . C T 35.62 PASS AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=49.93;MQ0=0;OQ=473.15;QD=15.77;SB=-230.75 GT:AD:DP:GL:GQ 0/1:10,20:24:-57.83,-7.23,-29.03:99 -chr1 3418020 rs2820999 T G 23.07 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=1.35;MQ=59.30;MQ0=0;OQ=1099.49;QD=33.32;SB=-419.27 GT:AD:DP:GL:GQ 1/1:0,32:32:-113.54,-9.64,-0.01:96.28 -chr1 3418284 rs4648391 G T 480.48 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.84;MQ0=0;OQ=1326.40;QD=33.16;SB=-497.29 GT:AD:DP:GL:GQ 1/1:0,40:39:-136.24,-11.75,-0.02:99 -chr1 3418288 rs4648514 C T 298.40 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.81;MQ0=0;OQ=1504.64;QD=38.58;SB=-514.18 GT:AD:DP:GL:GQ 1/1:0,39:39:-154.07,-11.75,-0.02:99 -chr1 3418468 rs11585362 G A 504.11 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1061.06;QD=36.59;SB=-446.58 GT:AD:DP:GL:GQ 1/1:0,29:29:-109.71,-8.74,-0.02:87.27 -chr1 3419555 rs11587354 C A 388.99 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.09;MQ0=0;OQ=2174.38;QD=35.07;SB=-358.82 GT:AD:DP:GL:GQ 1/1:0,62:58:-221.04,-17.47,-0.02:99 -chr1 3420506 . T A 214.92 PASS AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1094.09;QD=36.47;SB=-408.28 GT:AD:DP:GL:GQ 1/1:0,30:30:-113.00,-9.04,-0.01:90.28 -chr1 3422067 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=4;HaplotypeScore=5.56;MQ=56.93;MQ0=0;OQ=142.54;QD=3.85;SB=26.11 GT:AD:DP:GL:GQ 0/1:17,20:22:-24.18,-6.64,-53.52:99 -chr1 3422138 rs12045137 C G 147.05 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.45;MQ0=0;OQ=1703.92;QD=40.57;SB=-765.63 GT:AD:DP:GL:GQ 1/1:0,42:41:-174.00,-12.36,-0.02:99 -chr1 3422853 rs11587498 G A 175.29 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=60.00;MQ0=0;OQ=415.52;QD=12.22;SB=-203.18 GT:AD:DP:GL:GQ 0/1:20,14:31:-54.19,-9.35,-54.52:99 -chr1 3424377 rs2820995 A G 162.79 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=58.66;MQ0=0;OQ=1805.64;QD=27.36;SB=-525.83 GT:AD:DP:GL:GQ 1/1:0,66:60:-184.23,-18.11,-0.08:99 -chr1 3424844 rs2794362 G C 500.34 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.07;MQ0=0;OQ=1899.04;QD=42.20;SB=-801.86 GT:AD:DP:GL:GQ 1/1:0,45:44:-193.50,-13.26,-0.01:99 -chr1 3427795 rs2794365 T C 272.59 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.56;MQ0=0;OQ=540.74;QD=12.87;SB=-223.28 GT:AD:DP:GL:GQ 0/1:22,20:39:-69.11,-11.75,-73.06:99 -chr1 3428053 rs11587384 G A 58.66 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=58.59;MQ0=0;OQ=656.10;QD=19.88;SB=-350.39 GT:AD:DP:GL:GQ 0/1:13,20:30:-77.94,-9.05,-31.18:99 -chr1 3428530 rs10909958 C T 169.55 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.67;MQ=60.00;MQ0=0;OQ=649.49;QD=10.31;SB=-164.81 GT:AD:DP:GL:GQ 0/1:40,23:61:-86.62,-18.39,-128.91:99 -chr1 3429888 rs10797398 G C 1.63 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=0.26;MQ=58.87;MQ0=0;OQ=1501.66;QD=40.59;SB=-598.80 GT:AD:DP:GL:GQ 1/1:0,37:37:-153.77,-11.16,-0.02:99 -chr1 3430507 rs2794322 T C 118.81 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=864.34;QD=26.19;SB=-416.15 GT:AD:DP:GL:GQ 1/1:0,33:29:-90.06,-8.75,-0.04:87.16 -chr1 3430803 rs12049449 A C 10.61 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=3;HaplotypeScore=1.13;MQ=59.39;MQ0=0;OQ=1279.24;QD=33.66;SB=-506.06 GT:AD:DP:GL:GQ 1/1:0,38:37:-131.52,-11.15,-0.02:99 -chr1 3431124 rs12093117 G A 200.25 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=2.17;MQ=59.61;MQ0=0;OQ=828.18;QD=17.25;SB=-263.28 GT:AD:DP:GL:GQ 0/1:20,28:45:-99.67,-13.57,-58.69:99 -chr1 3432615 rs11589895 G A 209.87 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=58.89;MQ0=0;OQ=771.91;QD=18.38;SB=-386.90 GT:AD:DP:GL:GQ 0/1:19,23:42:-93.13,-12.66,-62.18:99 -chr1 3433053 . C T 70.11 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=58.26;MQ0=0;OQ=707.05;QD=13.86;SB=-362.49 GT:AD:DP:GL:GQ 0/1:26,25:48:-88.45,-14.46,-91.49:99 -chr1 3435213 rs2821068 G C 38.82 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=2.67;MQ=58.11;MQ0=0;OQ=1371.97;QD=37.08;SB=-540.03 GT:AD:DP:GL:GQ 1/1:0,36:33:-140.79,-9.95,-0.01:99 -chr1 3435771 rs883427 G A 416.41 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.00;MQ0=0;OQ=1899.02;QD=38.76;SB=-741.50 GT:AD:DP:GL:GQ 1/1:0,49:48:-193.50,-14.46,-0.01:99 -chr1 3436171 rs11589175 G A 118.39 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=494.22;QD=9.88;SB=-114.31 GT:AD:DP:GL:GQ 0/1:32,17:48:-69.83,-17.13,-113.83:99 -chr1 3436855 rs11811714 C T 197.39 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.64;MQ=58.93;MQ0=0;OQ=2210.05;QD=36.23;SB=-988.23 GT:AD:DP:GL:GQ 1/1:0,61:58:-224.62,-17.49,-0.03:99 -chr1 3436977 rs56103034 G C 151.47 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=60.00;MQ0=0;OQ=361.61;QD=12.91;SB=-169.18 GT:AD:DP:GL:GQ 0/1:15,13:27:-47.59,-8.14,-66.07:99 -chr1 3437069 . A C 13.05 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=2;HaplotypeScore=6.13;MQ=58.68;MQ0=0;QD=0.25;SB=74.24 GT:AD:DP:GL:GQ 0/1:37,15:37:-15.71,-11.15,-109.98:45.67 -chr1 3438669 rs61762171 G A 197.19 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.08;MQ=59.50;MQ0=0;OQ=831.35;QD=18.07;SB=-356.42 GT:AD:DP:GL:GQ 0/1:21,25:43:-99.38,-12.97,-55.25:99 -chr1 3438727 rs55762450 C A 163.97 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=3.39;MQ=59.54;MQ0=0;OQ=660.37;QD=13.21;SB=-236.28 GT:AD:DP:GL:GQ 0/1:20,30:45:-82.89,-13.57,-69.96:99 -chr1 3440115 rs2493313 T C 297.46 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=56.74;MQ0=0;OQ=1008.77;QD=34.79;SB=-528.20 GT:AD:DP:GL:GQ 1/1:0,29:29:-104.47,-8.74,-0.01:87.25 -chr1 3444452 rs9970944 G T 111.06 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=2.08;MQ=58.11;MQ0=0;OQ=1564.30;QD=32.59;SB=-784.47 GT:AD:DP:GL:GQ 1/1:1,47:45:-160.04,-13.56,-0.02:99 -chr1 3445102 rs12049456 G A 432 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.32;MQ0=0;OQ=1256.64;QD=36.96;SB=-508.18 GT:AD:DP:GL:GQ 1/1:0,34:33:-129.26,-9.95,-0.01:99 -chr1 3445120 . C G 39.08 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=55.59;MQ0=2;QD=0.85;SB=59.22 GT:AD:DP:GL:GQ 0/1:40,6:41:-19.55,-12.36,-150.78:71.92 -chr1 3448511 rs2821064 A T 100.60 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=4.44;MQ=58.81;MQ0=0;OQ=526.36;QD=13.50;SB=-238.77 GT:AD:DP:GL:GQ 0/1:20,19:39:-67.67,-11.75,-70.26:99 -chr1 3448541 rs2794331 G C 111.94 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=0.83;MQ=58.71;MQ0=0;OQ=556.37;QD=15.45;SB=-245.10 GT:AD:DP:GL:GQ 0/1:19,17:32:-68.58,-9.65,-62.08:99 -chr1 3448992 rs12065874 C T 177.16 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.40;MQ=59.46;MQ0=0;OQ=793.34;QD=18.45;SB=-374.15 GT:AD:DP:GL:GQ 0/1:19,24:39:-94.38,-11.76,-47.24:99 -chr1 3452764 rs10797401 T C 166.54 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=1.03;MQ=59.52;MQ0=0;OQ=647.76;QD=16.61;SB=-319.33 GT:AD:DP:GL:GQ 0/1:16,23:38:-79.51,-11.45,-58.06:99 -chr1 3453088 rs28479691 G A 97.36 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=55.43;MQ0=1;OQ=249.39;QD=11.34;SB=-131.56 GT:AD:DP:GL:GQ 0/1:11,11:18:-33.65,-5.43,-32.56:99 -chr1 3453209 rs13374309 C G 5.21 PASS AC=1;AF=0.50;AN=2;DB;DP=19;Dels=0.00;HRun=2;HaplotypeScore=3.14;MQ=57.20;MQ0=0;OQ=292.98;QD=15.42;SB=-154.58 GT:AD:DP:GL:GQ 0/1:9,10:17:-37.71,-5.13,-33.06:99 -chr1 3455556 rs7539836 A G 113.09 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=60.00;MQ0=0;OQ=359.37;QD=13.82;SB=-189.55 GT:AD:DP:GL:GQ 0/1:12,14:25:-46.76,-7.53,-43.20:99 -chr1 3458010 rs7533321 G A 155.67 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=59.46;MQ0=0;OQ=810.48;QD=18.85;SB=-428.48 GT:AD:DP:GL:GQ 0/1:17,25:39:-96.09,-11.75,-47.40:99 -chr1 3458818 rs6413780 A C 146.27 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.53;MQ0=0;OQ=401.98;QD=8.20;SB=-115.74 GT:AD:DP:GL:GQ 0/1:29,20:47:-57.64,-14.16,-107.92:99 -chr1 3458949 rs7355038 G A 151.46 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=59.19;MQ0=0;OQ=998.13;QD=19.19;SB=-471.50 GT:AD:DP:GL:GQ 0/1:22,30:52:-118.77,-15.67,-71.64:99 -chr1 3460223 rs10909965 T G 23.16 PASS AC=1;AF=0.50;AN=2;DB;DP=19;Dels=0.00;HRun=1;HaplotypeScore=2.59;MQ=58.78;MQ0=0;OQ=201.44;QD=10.60;SB=-54.94 GT:AD:DP:GL:GQ 0/1:10,9:17:-28.55,-5.12,-30.64:99 -chr1 3460241 rs12078542 T C 57.79 PASS AC=1;AF=0.50;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=58.39;MQ0=0;OQ=207.08;QD=7.14;SB=-117.62 GT:AD:DP:GL:GQ 0/1:17,12:22:-30.63,-6.64,-46.05:99 -chr1 3460729 rs1557089 T G 340.61 PASS AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.05;MQ0=0;OQ=311.87;QD=12.99;SB=-162.75 GT:AD:DP:GL:GQ 0/1:12,12:20:-40.49,-6.02,-30.26:99 -chr1 3462253 rs7516641 A G 481.67 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.57;MQ0=0;OQ=514.29;QD=11.96;SB=-180.52 GT:AD:DP:GL:GQ 0/1:23,20:43:-67.67,-12.96,-92.19:99 -chr1 3466443 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=45;Dels=0.02;HRun=17;HaplotypeScore=21.57;MQ=53.85;MQ0=0;OQ=205.19;QD=4.56;SB=-78.83 GT:AD:DP:GL:GQ 0/1:24,20:32:-33.15,-9.34,-78.96:99 -chr1 3466697 . C G 64.69 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.65;MQ=58.96;MQ0=0;OQ=671.74;QD=12.44;SB=-259.12 GT:AD:DP:GL:GQ 0/1:31,23:50:-85.55,-15.09,-116.59:99 -chr1 3474782 rs56410789 G A 184.63 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.77;MQ=59.61;MQ0=0;OQ=703.19;QD=14.65;SB=-349.63 GT:AD:DP:GL:GQ 0/1:25,22:45:-89.80,-16.20,-75.19:99 -chr1 3480873 . T C 0.25 PASS AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=3;HaplotypeScore=1.82;MQ=59.06;MQ0=0;OQ=234.33;QD=11.72;SB=-33.65 GT:AD:DP:GL:GQ 0/1:10,10:19:-32.44,-5.72,-41.44:99 -chr1 3480967 rs4431782 T C 9.06 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=2.79;MQ=59.14;MQ0=0;OQ=141.27;QD=5.23;SB=-37.66 GT:AD:DP:GL:GQ 0/1:16,11:24:-24.65,-7.24,-64.66:99 -chr1 3482056 rs2821057 A G 50.28 Indel AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.04;HRun=0;HaplotypeScore=40.06;MQ=43.76;MQ0=3;QD=0.93;SB=-23.61 GT:AD:DP:GL:GQ 0/1:44,8:48:-22.18,-13.87,-154.71:83.12 -chr1 3483124 rs2821056 A T 583.97 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.89;MQ0=0;OQ=1839.69;QD=37.54;SB=-868.96 GT:AD:DP:GL:GQ 1/1:0,49:49:-187.56,-14.76,-0.01:99 -chr1 3483560 rs2821055 T C 111.86 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=57.13;MQ0=0;OQ=1375.27;QD=31.98;SB=-687.18 GT:AD:DP:GL:GQ 1/1:0,43:41:-141.13,-12.35,-0.02:99 -chr1 3483710 rs2821054 G T 266.86 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.07;MQ0=0;OQ=1733.58;QD=34.67;SB=-747.08 GT:AD:DP:GL:GQ 1/1:0,50:50:-176.97,-15.07,-0.02:99 -chr1 3484389 rs2794348 A G 1.13 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=6.39;MQ=58.05;MQ0=0;OQ=1127.20;QD=31.31;SB=-545.88 GT:AD:DP:GL:GQ 1/1:0,36:34:-116.33,-10.25,-0.02:99 -chr1 3484478 rs2794347 G C 132.33 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=58.47;MQ0=0;OQ=1529.91;QD=34.77;SB=-715.91 GT:AD:DP:GL:GQ 1/1:0,44:40:-156.62,-12.09,-0.05:99 -chr1 3484580 rs2794346 G A 64.20 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=980.89;QD=28.85;SB=-342.41 GT:AD:DP:GL:GQ 1/1:1,32:27:-101.70,-8.14,-0.02:81.23 -chr1 3485237 rs2794344 G A 227.50 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=58.20;MQ0=0;OQ=1135.92;QD=18.03;SB=-434.44 GT:AD:DP:GL:GQ 0/1:26,37:58:-134.36,-17.49,-77.46:99 -chr1 3485276 rs2794343 G T 262.44 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.65;MQ=58.14;MQ0=0;OQ=635.86;QD=12.00;SB=-319.27 GT:AD:DP:GL:GQ 0/1:28,25:50:-81.94,-15.07,-81.25:99 -chr1 3485297 rs2794342 T C 164.76 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=2.19;MQ=55.76;MQ0=0;OQ=873.19;QD=16.17;SB=-382.03 GT:AD:DP:GL:GQ 0/1:20,34:51:-105.98,-15.38,-70.34:99 -chr1 3485317 . C T 0.61 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.60;MQ=55.51;MQ0=0;OQ=217.69;QD=4.03;SB=-62.86 GT:AD:DP:GL:GQ 0/1:42,11:46:-38.92,-13.87,-116.02:99 -chr1 3485320 . C T 0.57 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=55.81;MQ0=0;OQ=186.10;QD=3.58;SB=-62.80 GT:AD:DP:GL:GQ 0/1:41,10:44:-35.15,-13.26,-125.21:99 -chr1 3485329 rs56044258 C G 8.19 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=4.19;MQ=55.35;MQ0=0;OQ=1813.27;QD=38.58;SB=-922.42 GT:AD:DP:GL:GQ 1/1:0,47:43:-184.93,-12.96,-0.02:99 -chr1 3485401 rs2821053 T C 608.29 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.09;MQ0=0;OQ=2115.06;QD=34.11;SB=-1060.08 GT:AD:DP:GL:GQ 1/1:0,62:60:-215.11,-18.07,-0.02:99 -chr1 3485841 rs2794341 T C 133.27 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.28;MQ=59.57;MQ0=0;OQ=1280.08;QD=29.77;SB=-579.98 GT:AD:DP:GL:GQ 1/1:0,43:41:-131.63,-12.37,-0.04:99 -chr1 3485914 rs2821052 G C 139.61 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=59.60;MQ0=0;OQ=1918.65;QD=40.82;SB=-901.42 GT:AD:DP:GL:GQ 1/1:0,47:46:-195.47,-13.86,-0.02:99 -chr1 3486188 rs2821051 T C 180.06 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.51;MQ0=0;OQ=1502.08;QD=31.96;SB=-651.24 GT:AD:DP:GL:GQ 1/1:0,47:44:-153.81,-13.26,-0.02:99 -chr1 3486339 rs2794340 T C 195.59 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=747.54;QD=27.69;SB=-185.41 GT:AD:DP:GL:GQ 1/1:0,27:25:-78.37,-7.54,-0.03:75.17 -chr1 3486805 rs2794339 G A 3.01 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=790.02;QD=34.35;SB=-39.54 GT:AD:DP:GL:GQ 1/1:0,23:21:-82.60,-6.33,-0.01:63.20 -chr1 3486898 . C G 23.94 LowQual AC=1;AF=0.50;AN=2;DP=11;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=60.00;MQ0=0;QD=2.18;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,7:5:-7.19,-1.52,-10.35:56.76 -chr1 3486969 rs2821050 A G 170.61 PASS AC=2;AF=1.00;AN=2;DB;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.66;MQ0=0;OQ=230.85;QD=23.09;SB=-101.03 GT:AD:DP:GL:GQ 1/1:0,10:9:-26.68,-2.72,-0.01:27.04 -chr1 3487085 rs2821049 G A 44.18 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.41;MQ0=1;OQ=1103.43;QD=35.59;SB=-441.32 GT:AD:DP:GL:GQ 1/1:0,31:29:-113.94,-8.74,-0.01:87.28 -chr1 3487785 rs2821048 T C 3.27 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=3;HaplotypeScore=0.79;MQ=59.07;MQ0=0;OQ=795.96;QD=29.48;SB=-323.61 GT:AD:DP:GL:GQ 1/1:0,26:24:-83.19,-7.23,-0.01:72.20 -chr1 3488346 rs2821047 A C 41.05 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=59.50;MQ0=0;OQ=1833.45;QD=33.34;SB=-923.21 GT:AD:DP:GL:GQ 1/1:0,55:53:-186.95,-15.96,-0.02:99 -chr1 3488543 rs2794338 G A 5.07 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=2.25;MQ=59.38;MQ0=0;OQ=1108.21;QD=36.94;SB=-425.07 GT:AD:DP:GL:GQ 1/1:0,30:29:-114.42,-8.74,-0.01:87.27 -chr1 3488600 rs2821046 T C 153.98 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=59.16;MQ0=0;OQ=1640.68;QD=29.83;SB=-825.95 GT:AD:DP:GL:GQ 1/1:0,55:53:-167.70,-15.99,-0.05:99 -chr1 3488885 rs2794337 T G 92.94 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=58.67;MQ0=0;OQ=1036.65;QD=29.62;SB=-469.86 GT:AD:DP:GL:GQ 1/1:0,35:34:-107.28,-10.25,-0.03:99 -chr1 3488911 rs2794336 C A 491.72 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.38;MQ0=0;OQ=1159.72;QD=31.34;SB=-543.79 GT:AD:DP:GL:GQ 1/1:0,37:35:-119.58,-10.55,-0.02:99 -chr1 3489106 rs2821045 A G 0.45 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=15.70;MQ=58.09;MQ0=0;OQ=1342.02;QD=27.39;SB=-607.24 GT:AD:DP:GL:GQ 1/1:1,48:44:-137.83,-13.27,-0.05:99 -chr1 3489389 rs2794335 C G 104.49 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=56.91;MQ0=0;OQ=2044.98;QD=41.73;SB=-1038.63 GT:AD:DP:GL:GQ 1/1:0,49:48:-208.10,-14.46,-0.02:99 -chr1 3489541 rs2821044 A G 154.02 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=51.93;MQ0=0;OQ=1856.46;QD=32.01;SB=-939.38 GT:AD:DP:GL:GQ 1/1:0,58:53:-189.25,-15.96,-0.02:99 -chr1 3489730 . G A 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=0;HaplotypeScore=5.70;MQ=38.46;MQ0=13;OQ=219.88;QD=2.71;SB=-20.96 GT:AD:DP:GL:GQ 0/1:65,15:58:-42.77,-17.50,-145.53:99 -chr1 3489856 rs61762194 A G 22.79 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=13.90;MQ=6.46;MQ0=57;QD=0.35;SB=-34.94 GT:AD:DP:GL:GQ 0/1:19,46:3:-6.46,-0.90,-4.17:32.64 -chr1 3490108 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=122;Dels=0.00;HRun=0;HaplotypeScore=22.57;MQ=11.21;MQ0=79;OQ=52.09;QD=0.43;SB=2.03 GT:AD:DP:GL:GQ 0/1:64,55:12:-12.11,-3.62,-27.46:84.92 -chr1 3490124 . G C 37.51 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=1;HaplotypeScore=28.89;MQ=9.24;MQ0=69;QD=0.40;SB=-36.43 GT:AD:DP:GL:GQ 0/1:52,37:3:-7.94,-0.91,-4.59:36.89 -chr1 3490204 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=9.07;MQ=18.33;MQ0=40;OQ=221.10;QD=2.91;SB=-48.02 GT:AD:DP:GL:GQ 0/1:38,34:16:-30.22,-4.83,-23.80:99 -chr1 3490220 . G C 14.47 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=102;Dels=0.00;HRun=1;HaplotypeScore=18.26;MQ=21.29;MQ0=44;QD=0.14;SB=5.04 GT:AD:DP:GL:GQ 0/1:89,13:27:-12.87,-8.16,-91.89:47.15 -chr1 3490238 . G C 29.48 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=124;Dels=0.00;HRun=1;HaplotypeScore=19.99;MQ=24.83;MQ0=54;QD=0.24;SB=65.23 GT:AD:DP:GL:GQ 0/1:92,32:39:-18.02,-11.79,-132.68:62.32 -chr1 3490274 rs61762197 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=195;Dels=0.00;HRun=0;HaplotypeScore=31.55;MQ=26.52;MQ0=97;OQ=140.78;QD=0.72;SB=53.20 GT:AD:DP:GL:GQ 0/1:172,21:60:-35.47,-18.11,-209.36:99 -chr1 3490294 rs61762198 G A 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=144;Dels=0.00;HRun=0;HaplotypeScore=18.88;MQ=30.38;MQ0=61;OQ=410.69;QD=2.85;SB=-6.44 GT:AD:DP:GL:GQ 0/1:110,32:48:-58.84,-14.49,-102.11:99 -chr1 3490309 rs61762199 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=126;Dels=0.00;HRun=0;HaplotypeScore=43.37;MQ=33.08;MQ0=48;OQ=683.06;QD=5.42;SB=-30.63 GT:AD:DP:GL:GQ 0/1:101,25:47:-85.76,-14.17,-79.46:99 -chr1 3490312 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=117;Dels=0.00;HRun=0;HaplotypeScore=46.24;MQ=34.26;MQ0=40;OQ=200.77;QD=1.72;SB=-32.50 GT:AD:DP:GL:GQ 0/1:85,31:40:-35.43,-12.07,-95.25:99 -chr1 3490435 rs2995009 G A 597.77 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.35;MQ0=0;OQ=1467.09;QD=38.61;SB=-711.36 GT:AD:DP:GL:GQ 1/1:0,38:38:-150.31,-11.45,-0.01:99 -chr1 3491040 rs2995008 T C 284.33 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=60.00;MQ0=0;OQ=1828.19;QD=32.07;SB=-897.29 GT:AD:DP:GL:GQ 1/1:0,57:55:-186.44,-16.58,-0.04:99 -chr1 3492147 . G A 23.72 PASS AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=55.26;MQ0=1;OQ=1679.66;QD=32.93;SB=-585.96 GT:AD:DP:GL:GQ 1/1:1,50:45:-171.57,-13.56,-0.02:99 -chr1 3492404 rs2487682 G A 109.67 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=55.97;MQ0=0;OQ=1664.54;QD=34.68;SB=-566.34 GT:AD:DP:GL:GQ 1/1:2,46:43:-170.05,-12.95,-0.01:99 -chr1 3493214 rs10909977 C T 290.65 PASS AC=2;AF=1.00;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.46;MQ0=0;OQ=982.44;QD=37.79;SB=-341.35 GT:AD:DP:GL:GQ 1/1:0,26:26:-101.84,-7.83,-0.01:78.25 -chr1 3493427 rs12133810 G A 0.43 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=6.10;MQ=60.00;MQ0=0;OQ=1731.58;QD=36.07;SB=-586.35 GT:AD:DP:GL:GQ 1/1:0,47:45:-176.76,-13.56,-0.02:99 -chr1 3493933 rs12139206 T C 718.86 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.76;MQ0=0;OQ=2133.52;QD=33.87;SB=-1000.69 GT:AD:DP:GL:GQ 1/1:0,63:61:-216.96,-18.38,-0.03:99 -chr1 3494278 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=29.95;MQ=39.18;MQ0=0;OQ=57.06;QD=1.00;SB=32.12 GT:AD:DP:GL:GQ 0/1:51,6:50:-24.05,-15.06,-154.00:89.90 -chr1 3494280 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=31.95;MQ=39.34;MQ0=0;OQ=98.32;QD=1.76;SB=29.10 GT:AD:DP:GL:GQ 0/1:46,10:49:-27.88,-14.76,-138.47:99 -chr1 3494307 . T G 201.76 SnpCluster AC=1;AF=0.50;AN=2;DP=58;Dels=0.10;HRun=2;HaplotypeScore=112.88;MQ=32.38;MQ0=0;QD=3.48;SB=-117.62 GT:AD:DP:GL:GQ 0/1:34,18:28:-31.59,-8.13,-64.60:99 -chr1 3494310 rs61762200 C A 192.29 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=121.85;MQ=30.79;MQ0=0;QD=3.43;SB=-60.75 GT:AD:DP:GL:GQ 0/1:36,18:28:-30.95,-8.43,-66.22:99 -chr1 3494317 . G T 32.47 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=81.33;MQ=29.05;MQ0=0;QD=0.60;SB=-10.00 GT:AD:DP:GL:GQ 0/1:41,11:25:-14.06,-7.53,-79.10:65.31 -chr1 3494320 . G A 676.99 SnpCluster AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=53.82;MQ=29.06;MQ0=0;QD=13.02;SB=-10.00 GT:AD:DP:GL:GQ 0/1:6,41:24:-78.21,-7.23,-14.28:70.50 -chr1 3494331 . C T 224.74 SnpCluster AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=74.35;MQ=28.87;MQ0=0;QD=4.68;SB=-10.00 GT:AD:DP:GL:GQ 0/1:29,19:11:-29.07,-3.31,-14.19:99 -chr1 3494338 . G A 223.95 SnpCluster AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=78.36;MQ=28.88;MQ0=0;QD=4.76;SB=-10.00 GT:AD:DP:GL:GQ 0/1:25,22:10:-28.69,-3.01,-9.91:68.95 -chr1 3494340 . G A 250.50 SnpCluster AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=74.35;MQ=28.88;MQ0=0;QD=5.33;SB=-10.00 GT:AD:DP:GL:GQ 0/1:9,38:10:-31.35,-3.01,-6.64:36.27 -chr1 3494344 . G A 85.25 SnpCluster AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=1;HaplotypeScore=68.88;MQ=28.67;MQ0=0;QD=1.85;SB=-10.00 GT:AD:DP:GL:GQ 0/1:41,5:14:-16.03,-4.22,-34.38:99 -chr1 3494347 . A T 143.02 SnpCluster AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=0;HaplotypeScore=69.92;MQ=28.59;MQ0=0;QD=3.87;SB=-10.00 GT:AD:DP:GL:GQ 0/1:2,19:7:-19.69,-2.11,-6.98:48.71 -chr1 3494357 . G T 24.90 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=73.10;MQ=28.56;MQ0=0;QD=0.73;SB=-10.00 GT:AD:DP:GL:GQ 0/1:18,15:5:-7.28,-1.51,-10.87:57.73 -chr1 3494360 . G A 23.23 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=81.86;MQ=28.53;MQ0=0;QD=0.73;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,11:6:-7.41,-1.81,-14.17:56.05 -chr1 3494364 . G A 65.76 SnpCluster AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=1;HaplotypeScore=67.04;MQ=28.12;MQ0=1;QD=1.93;SB=-10.00 GT:AD:DP:GL:GQ 0/1:29,5:7:-11.97,-2.11,-13.57:98.60 -chr1 3494367 . G T 116.01 SnpCluster AC=1;AF=0.50;AN=2;DP=34;Dels=0.03;HRun=0;HaplotypeScore=76.86;MQ=28.12;MQ0=1;QD=3.41;SB=-10.00 GT:AD:DP:GL:GQ 0/1:14,19:9:-17.59,-2.71,-15.13:99 -chr1 3494370 . G C 77.61 SnpCluster AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=1;HaplotypeScore=62.98;MQ=28.25;MQ0=1;QD=2.87;SB=-10.00 GT:AD:DP:GL:GQ 0/1:8,7:9:-20.69,-9.65,-24.68:99 -chr1 3494377 . G T 26.91 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=0;HaplotypeScore=64.80;MQ=28.23;MQ0=1;QD=1.03;SB=-10.00 GT:AD:DP:GL:GQ 0/1:20,4:4:-7.18,-1.20,-7.71:59.73 -chr1 3494378 . G A 98.30 SnpCluster AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=0;HaplotypeScore=59.24;MQ=28.44;MQ0=1;QD=3.78;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,11:7:-15.22,-2.11,-10.61:84.98 -chr1 3494380 . G A 43.51 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=0;HaplotypeScore=65.22;MQ=28.44;MQ0=1;QD=1.67;SB=-10.00 GT:AD:DP:GL:GQ 0/1:8,15:4:-12.40,-4.77,-6.87:20.98 -chr1 3494384 . G A 26.23 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=1;HaplotypeScore=51.99;MQ=28.44;MQ0=1;QD=1.01;SB=-10.00 GT:AD:DP:GL:GQ 0/1:20,6:7:-8.02,-2.11,-15.94:59.06 -chr1 3494390 . G A 130.87 SnpCluster AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=39.84;MQ=28.27;MQ0=1;QD=6.54;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,12:6:-18.18,-1.81,-3.67:18.63 -chr1 3494414 . G A 19.25 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=1;HaplotypeScore=22.06;MQ=28.20;MQ0=1;QD=1.13;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,2:8:-7.61,-2.41,-20.11:52.04 -chr1 3494416 . G C 113.75 SnpCluster AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=18.24;MQ=27.40;MQ0=1;QD=6.32;SB=-10.00 GT:AD:DP:GL:GQ 0/1:14,4:8:-17.07,-2.41,-16.09:99 -chr1 3494417 . A T 24.41 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=25.18;MQ=27.40;MQ0=1;QD=1.36;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,5:8:-14.34,-8.61,-21.17:57.23 -chr1 3494420 . C A 17.09 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=28.79;MQ=27.40;MQ0=1;QD=0.95;SB=-10.00 GT:AD:DP:GL:GQ 0/1:7,11:6:-6.79,-1.81,-13.20:49.84 -chr1 3494428 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=21.58;MQ=27.57;MQ0=1;OQ=101.33;QD=5.07;SB=-10.00 GT:AD:DP:GL:GQ 0/1:14,6:9:-16.13,-2.71,-15.44:99 -chr1 3494440 . A G 20.51 LowQual AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=4;HaplotypeScore=16.99;MQ=27.20;MQ0=1;QD=1.28;SB=-10.00 GT:AD:DP:GL:GQ 0/1:14,2:6:-7.14,-1.81,-14.72:53.31 -chr1 3494450 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=19.98;MQ=27.07;MQ0=1;OQ=136.86;QD=9.12;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,11:7:-19.08,-2.11,-6.94:48.30 -chr1 3494456 . G A 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=17;Dels=0.12;HRun=1;HaplotypeScore=13.10;MQ=27.31;MQ0=1;OQ=95.30;QD=5.61;SB=-10.00 GT:AD:DP:GL:GQ 0/1:10,5:11:-16.13,-3.31,-22.08:99 -chr1 3494463 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=11;Dels=0.00;HRun=1;HaplotypeScore=15.99;MQ=27.75;MQ0=0;OQ=76.78;QD=6.98;SB=-10.00 GT:AD:DP:GL:GQ 0/1:8,3:5:-12.47,-1.51,-7.14:56.32 -chr1 3494470 . G A 37.25 LowQual AC=1;AF=0.50;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=9.99;MQ=29.00;MQ0=0;QD=4.66;SB=-10.00 GT:AD:DP:GL:GQ 0/1:2,6:3:-7.91,-0.90,-3.57:26.65 -chr1 3494476 . C G 10.99 LowQual AC=1;AF=0.50;AN=2;DP=6;Dels=0.00;HRun=0;HaplotypeScore=6.99;MQ=29.00;MQ0=0;QD=1.83;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,3:1:-4.35,-0.30,-0.00:1.76 -chr1 3494500 . C A 20.04 LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=24.21;MQ=29.00;MQ0=0;QD=1.43;SB=-10.00 GT:AD:DP:GL:GQ 0/1:6,8:6:-7.09,-1.81,-14.10:52.83 -chr1 3494506 . G A 17.29 LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.05;HRun=1;HaplotypeScore=32.64;MQ=29.00;MQ0=0;QD=0.91;SB=-10.00 GT:AD:DP:GL:GQ 0/1:14,4:10:-8.02,-3.01,-25.65:50.04 -chr1 3494513 . G A 25.23 LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=1;HaplotypeScore=41.45;MQ=31.40;MQ0=0;QD=1.33;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,4:6:-7.61,-1.81,-13.27:58.06 -chr1 3494520 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=37.55;MQ=33.42;MQ0=0;OQ=64.77;QD=3.24;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,13:7:-11.87,-2.11,-12.97:97.60 -chr1 3494524 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=1;HaplotypeScore=27.25;MQ=33.22;MQ0=0;OQ=65.77;QD=3.13;SB=-10.00 GT:AD:DP:GL:GQ 0/1:18,3:5:-11.37,-1.51,-6.04:45.31 -chr1 3494544 . G A 102.31 SnpCluster AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=1;HaplotypeScore=60.62;MQ=32.58;MQ0=0;QD=4.09;SB=-10.00 GT:AD:DP:GL:GQ 0/1:21,4:9:-16.23,-2.71,-16.04:99 -chr1 3494547 . G T 87.64 SnpCluster AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=65.61;MQ=32.58;MQ0=0;QD=3.51;SB=-10.00 GT:AD:DP:GL:GQ 0/1:19,5:8:-14.46,-2.41,-14.43:99 -chr1 3494550 . A C 79.94 SnpCluster AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=1;HaplotypeScore=55.04;MQ=32.72;MQ0=0;QD=3.33;SB=-10.00 GT:AD:DP:GL:GQ 0/1:14,6:8:-16.58,-5.30,-13.73:84.35 -chr1 3494557 . G T 60.29 SnpCluster AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=39.81;MQ=31.18;MQ0=0;QD=2.87;SB=-10.00 GT:AD:DP:GL:GQ 0/1:11,8:4:-10.52,-1.20,-3.86:26.53 -chr1 3494560 . G A 91.28 SnpCluster AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=38.65;MQ=31.18;MQ0=0;QD=4.35;SB=-10.00 GT:AD:DP:GL:GQ 1/1:7,11:4:-16.06,-4.57,-3.40:11.70 -chr1 3494564 . G A 29.24 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=1;HaplotypeScore=32.50;MQ=31.29;MQ0=0;QD=1.46;SB=-10.00 GT:AD:DP:GL:GQ 0/1:18,2:6:-8.02,-1.81,-12.47:62.07 -chr1 3494574 . A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=26.98;MQ=29.00;MQ0=0;OQ=69.17;QD=4.94;SB=-10.00 GT:AD:DP:GL:GQ 1/1:6,8:3:-10.41,-0.90,-0.00:9.03 -chr1 3494590 . G A 142.91 SnpCluster AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=22.40;MQ=29.00;MQ0=0;QD=9.53;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,8:6:-19.38,-1.81,-3.57:17.63 -chr1 3494597 . G T 106.99 SnpCluster AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=25.38;MQ=29.00;MQ0=0;QD=7.64;SB=-10.00 GT:AD:DP:GL:GQ 0/1:9,5:11:-17.30,-3.31,-21.74:99 -chr1 3494600 . G A 30.23 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=11.39;MQ=29.00;MQ0=0;QD=3.02;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,6:5:-7.81,-1.51,-10.71:63.06 -chr1 3494624 . A G 3.02 PASS AC=1;AF=0.50;AN=2;DP=6;Dels=0.00;HRun=1;HaplotypeScore=2.14;MQ=23.68;MQ0=1;OQ=61.17;QD=10.20;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,5:4:-10.61,-1.20,-4.06:28.52 -chr1 3494941 rs3122612 T C 27.60 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=38.13;MQ0=0;OQ=190.96;QD=21.22;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,9:7:-22.68,-2.11,-0.00:21.05 -chr1 3496357 rs2794320 A G 629.67 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.59;MQ0=0;OQ=2197.16;QD=34.88;SB=-1063.87 GT:AD:DP:GL:GQ 1/1:0,63:62:-223.32,-18.67,-0.02:99 -chr1 3497672 rs12138013 G A 514.21 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=1894.53;QD=36.43;SB=-916.70 GT:AD:DP:GL:GQ 1/1:0,52:50:-193.07,-15.07,-0.03:99 -chr1 3497721 rs4648527 G A 5.98 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=5.91;MQ=58.60;MQ0=0;OQ=1808.59;QD=36.17;SB=-904.68 GT:AD:DP:GL:GQ 1/1:0,50:47:-184.46,-14.16,-0.02:99 -chr1 3497811 rs4233026 A G 453.03 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=985.33;QD=29.86;SB=-500.18 GT:AD:DP:GL:GQ 1/1:0,33:33:-102.16,-9.96,-0.04:99 -chr1 3499530 rs10909980 C T 12.32 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.36;MQ0=0;OQ=831.01;QD=36.13;SB=-270.86 GT:AD:DP:GL:GQ 1/1:0,23:22:-86.69,-6.63,-0.01:66.21 -chr1 3501794 rs7513275 A G 98.91 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=60.00;MQ0=0;OQ=215.59;QD=10.78;SB=-81.80 GT:AD:DP:GL:GQ 0/1:7,13:17:-29.97,-5.13,-27.54:99 -chr1 3502201 rs2794327 C T 251.06 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=60.00;MQ0=0;OQ=1770.81;QD=37.68;SB=-842.63 GT:AD:DP:GL:GQ 1/1:0,47:45:-180.68,-13.55,-0.01:99 -chr1 3502376 rs2821025 T C 189.36 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=58.06;MQ0=0;OQ=1399.30;QD=34.13;SB=-531.22 GT:AD:DP:GL:GQ 1/1:1,40:40:-143.53,-12.05,-0.02:99 -chr1 3502406 rs2821024 G A 10.93 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=2.84;MQ=59.12;MQ0=0;OQ=1381.75;QD=37.34;SB=-602.98 GT:AD:DP:GL:GQ 1/1:0,37:36:-141.77,-10.85,-0.01:99 -chr1 3502660 rs2821023 T C 164.14 PASS AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=55.31;MQ0=0;OQ=631.91;QD=27.47;SB=-134.71 GT:AD:DP:GL:GQ 1/1:0,23:22:-66.81,-6.64,-0.03:66.13 -chr1 3503040 rs3001104 T C 11.75 LowQual AC=1;AF=0.50;AN=2;DB;DP=13;Dels=0.00;HRun=3;HaplotypeScore=0.89;MQ=53.43;MQ0=0;QD=0.90;SB=-7.00 GT:AD:DP:GL:GQ 0/1:11,2:9:-7.15,-2.72,-25.40:44.29 -chr1 3503107 rs6697282 T C 2.87 PASS AC=2;AF=1.00;AN=2;DB;DP=11;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=57.92;MQ0=0;OQ=303.24;QD=27.57;SB=-40.95 GT:AD:DP:GL:GQ 1/1:0,11:10:-33.91,-3.01,-0.00:30.08 -chr1 3503479 rs55936822 G A 66.02 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=385.29;QD=13.76;SB=-81.58 GT:AD:DP:GL:GQ 0/1:14,14:27:-49.96,-8.15,-41.31:99 -chr1 3504130 rs3001107 A T 92.54 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.03;MQ=60.00;MQ0=0;OQ=1158.27;QD=35.10;SB=-515.45 GT:AD:DP:GL:GQ 1/1:0,33:32:-119.42,-9.64,-0.01:96.30 -chr1 3504221 rs2995006 A G 438.56 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=1363.50;QD=34.96;SB=-648.28 GT:AD:DP:GL:GQ 1/1:0,39:39:-139.95,-11.75,-0.02:99 -chr1 3504611 rs6701230 T C 61.10 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=60.00;MQ0=0;OQ=1071.54;QD=26.79;SB=-482.12 GT:AD:DP:GL:GQ 1/1:0,40:34:-110.77,-10.26,-0.03:99 -chr1 3505152 . C G 6.95 PASS AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=54.64;MQ0=0;OQ=215.54;QD=15.40;SB=-56.93 GT:AD:DP:GL:GQ 1/1:2,12:6:-25.13,-1.81,-0.00:18.06 -chr1 3505256 rs2794328 C A 31.98 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.33;MQ0=0;OQ=824.44;QD=29.44;SB=-191.27 GT:AD:DP:GL:GQ 1/1:1,27:24:-86.04,-7.23,-0.01:72.19 -chr1 3505590 rs2821011 T C 3.95 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=58.95;MQ0=0;OQ=1307.30;QD=29.71;SB=-329.39 GT:AD:DP:GL:GQ 1/1:0,44:40:-134.34,-12.06,-0.03:99 -chr1 3506096 rs4648395 G A 428.92 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.73;MQ0=0;OQ=1105.43;QD=35.66;SB=-453.34 GT:AD:DP:GL:GQ 1/1:0,31:29:-114.14,-8.74,-0.01:87.28 -chr1 3506280 rs7552280 C T 597.55 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1498.57;QD=38.42;SB=-699.42 GT:AD:DP:GL:GQ 1/1:0,39:38:-153.45,-11.45,-0.01:99 -chr1 3506640 rs4018202 C T 591.66 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.53;MQ0=0;OQ=1796.97;QD=36.67;SB=-852.00 GT:AD:DP:GL:GQ 1/1:0,49:46:-183.30,-13.86,-0.02:99 -chr1 3507139 rs4648528 C T 150.35 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=58.89;MQ0=0;OQ=1470.55;QD=35.01;SB=-673.24 GT:AD:DP:GL:GQ 1/1:0,42:39:-150.66,-11.76,-0.02:99 -chr1 3507337 rs61373700 C G 106.29 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.76;MQ=57.26;MQ0=0;OQ=1716.27;QD=39.91;SB=-832.44 GT:AD:DP:GL:GQ 1/1:1,42:42:-175.24,-12.66,-0.02:99 -chr1 3507396 rs6693958 G A 63.42 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=58.29;MQ0=0;OQ=1559.78;QD=38.04;SB=-721.97 GT:AD:DP:GL:GQ 1/1:0,41:40:-159.58,-12.05,-0.01:99 -chr1 3507433 rs59013990 G C 40.65 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=59.41;MQ0=0;OQ=1114.70;QD=28.58;SB=-265.33 GT:AD:DP:GL:GQ 1/1:0,38:29:-115.08,-8.75,-0.02:87.28 -chr1 3508244 rs2821012 T C 433.71 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.32;MQ0=0;OQ=981.44;QD=28.87;SB=-510.19 GT:AD:DP:GL:GQ 1/1:0,34:32:-101.76,-9.65,-0.03:96.21 -chr1 3508275 rs12410528 G A 77.57 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=59.32;MQ0=0;OQ=639.66;QD=18.81;SB=-281.31 GT:AD:DP:GL:GQ 0/1:14,20:31:-76.59,-9.34,-39.32:99 -chr1 3508279 rs12401505 C T 12.42 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=2.61;MQ=59.32;MQ0=0;OQ=621.28;QD=18.27;SB=-279.19 GT:AD:DP:GL:GQ 0/1:14,19:31:-74.75,-9.34,-43.77:99 -chr1 3508347 rs56770023 C T 305.75 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.60;MQ0=0;OQ=1098.04;QD=36.60;SB=-308.27 GT:AD:DP:GL:GQ 1/1:0,30:29:-113.40,-8.74,-0.01:87.27 -chr1 3508348 rs60957843 A G 332.32 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.55;MQ0=0;OQ=996.70;QD=34.37;SB=-270.42 GT:AD:DP:GL:GQ 1/1:0,29:29:-103.27,-8.74,-0.01:87.25 -chr1 3508499 rs2821013 C A 29.08 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=59.05;MQ0=0;OQ=1719.86;QD=35.10;SB=-757.10 GT:AD:DP:GL:GQ 1/1:0,49:47:-175.58,-14.15,-0.01:99 -chr1 3508603 rs7514061 C T 105.49 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.33;MQ0=0;OQ=1426.84;QD=33.97;SB=-607.00 GT:AD:DP:GL:GQ 1/1:0,42:38:-146.28,-11.45,-0.02:99 -chr1 3508717 rs2821014 A C 0.35 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=3;HaplotypeScore=1.13;MQ=59.42;MQ0=0;OQ=907.74;QD=22.69;SB=-295.54 GT:AD:DP:GL:GQ 1/1:0,37:28:-94.37,-8.43,-0.01:84.22 -chr1 3508804 rs7521546 T C 5.12 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=2;HaplotypeScore=1.42;MQ=57.17;MQ0=0;OQ=713.23;QD=28.53;SB=-330.78 GT:AD:DP:GL:GQ 1/1:0,25:24:-74.93,-7.24,-0.02:72.16 -chr1 3509294 rs12024499 A G 18.02 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=58.37;MQ0=0;OQ=1073.16;QD=24.96;SB=-338.38 GT:AD:DP:GL:GQ 1/1:0,43:37:-110.95,-11.17,-0.05:99 -chr1 3509463 rs12025426 T C 57.07 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=59.00;MQ0=0;OQ=1068.56;QD=25.44;SB=-559.52 GT:AD:DP:GL:GQ 1/1:0,42:36:-110.49,-10.87,-0.05:99 -chr1 3509651 rs56328010 C G 123.58 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=1.54;MQ=58.84;MQ0=0;OQ=608.86;QD=15.22;SB=-231.35 GT:AD:DP:GL:GQ 0/1:21,19:38:-75.63,-11.46,-87.10:99 -chr1 3509894 rs10752738 A G 106.20 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.49;MQ=57.39;MQ0=0;OQ=1124.20;QD=31.23;SB=-480.45 GT:AD:DP:GL:GQ 1/1:0,36:33:-116.02,-9.94,-0.01:99 -chr1 3509987 rs2821015 T C 88.77 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.95;MQ0=0;OQ=1023.67;QD=31.99;SB=-513.41 GT:AD:DP:GL:GQ 1/1:0,31:32:-108.71,-12.22,-2.76:94.68 -chr1 3510191 rs2794356 C A 66.82 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=58.63;MQ0=0;OQ=1082.36;QD=31.83;SB=-352.40 GT:AD:DP:GL:GQ 1/1:0,34:33:-111.84,-9.95,-0.02:99 -chr1 3510399 rs2794355 C T 148.33 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=60.22;MQ0=0;OQ=1723.81;QD=37.47;SB=-800.07 GT:AD:DP:GL:GQ 1/1:0,46:45:-175.99,-13.56,-0.02:99 -chr1 3510532 rs2821016 A C 65.43 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.42;MQ0=0;OQ=868.96;QD=27.16;SB=-409.86 GT:AD:DP:GL:GQ 1/1:0,32:29:-90.51,-8.74,-0.03:87.13 -chr1 3511971 rs56140438 T C 2680.91 Indel AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=51.68;MQ0=0;QD=34.82;SB=-1364.21 GT:AD:DP:GL:GQ 1/1:0,77:76:-271.70,-22.89,-0.02:99 -chr1 3513689 rs2794354 T C 23.29 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=1.40;MQ=60.00;MQ0=0;OQ=1332.54;QD=30.29;SB=-459.40 GT:AD:DP:GL:GQ 1/1:0,44:41:-136.87,-12.36,-0.03:99 -chr1 3513757 rs2821018 T C 1.28 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=4;HaplotypeScore=0.16;MQ=52.28;MQ0=0;OQ=1127.31;QD=32.21;SB=-555.88 GT:AD:DP:GL:GQ 1/1:0,35:33:-116.33,-9.94,-0.01:99 -chr1 3513776 rs2821019 A C 16.58 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=3.24;MQ=52.84;MQ0=0;OQ=1256.82;QD=30.65;SB=-634.67 GT:AD:DP:GL:GQ 1/1:0,41:37:-129.29,-11.15,-0.02:99 -chr1 3513778 rs2821020 G A 39.72 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=4.08;MQ=53.03;MQ0=0;OQ=1497.87;QD=35.66;SB=-772.68 GT:AD:DP:GL:GQ 1/1:0,42:39:-153.39,-11.75,-0.01:99 -chr1 3515181 rs2794353 G C 0.02 FDRtranche1.00to2.00 AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=5;HaplotypeScore=0.32;MQ=58.30;MQ0=0;OQ=1440.93;QD=40.03;SB=-600.98 GT:AD:DP:GL:GQ 1/1:0,36:34:-147.69,-10.24,-0.01:99 -chr1 3515467 rs36031771 G A 114.23 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.74;MQ=60.00;MQ0=0;OQ=1598.59;QD=36.33;SB=-811.32 GT:AD:DP:GL:GQ 1/1:0,44:42:-163.46,-12.66,-0.02:99 -chr1 3515500 rs34852522 G A 546.80 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1591.31;QD=37.01;SB=-737.47 GT:AD:DP:GL:GQ 1/1:1,42:41:-162.73,-12.35,-0.01:99 -chr1 3515696 rs10909986 G A 566.50 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.67;MQ0=0;OQ=1907.24;QD=38.92;SB=-905.69 GT:AD:DP:GL:GQ 1/1:0,49:48:-194.32,-14.46,-0.01:99 -chr1 3516250 rs12121341 A G 86.74 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=1093.76;QD=29.56;SB=-543.02 GT:AD:DP:GL:GQ 1/1:0,37:35:-112.99,-10.56,-0.03:99 -chr1 3518397 rs57902798 C A 88.78 PASS AC=2;AF=1.00;AN=2;DB;DP=25;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.13;MQ0=0;OQ=809.40;QD=32.38;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,25:24:-84.53,-7.23,-0.01:72.21 -chr1 3518534 rs1539126 G A 66.93 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.90;MQ=60.00;MQ0=0;OQ=1266.77;QD=36.19;SB=-476.64 GT:AD:DP:GL:GQ 1/1:0,34:33:-130.27,-9.94,-0.01:99 -chr1 3518701 rs2794326 T C 149.57 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.07;MQ0=0;OQ=1658.37;QD=33.17;SB=-790.25 GT:AD:DP:GL:GQ 1/1:0,50:49:-169.45,-14.76,-0.03:99 -chr1 3519249 rs10909987 G C 637.70 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.50;MQ0=0;OQ=1866.21;QD=40.57;SB=-960.72 GT:AD:DP:GL:GQ 1/1:0,45:44:-190.22,-13.26,-0.01:99 -chr1 3521082 rs4648396 C T 0.76 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=5;HaplotypeScore=1.32;MQ=59.36;MQ0=0;OQ=2285.23;QD=39.40;SB=-1043.37 GT:AD:DP:GL:GQ 1/1:0,58:57:-232.12,-17.17,-0.02:99 -chr1 3521301 rs4648397 T C 39.86 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=59.20;MQ0=0;OQ=1821.49;QD=31.41;SB=-869.61 GT:AD:DP:GL:GQ 1/1:0,58:57:-185.78,-17.19,-0.04:99 -chr1 3521455 rs4648398 C T 121.83 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=3.69;MQ=58.90;MQ0=0;OQ=2021.45;QD=34.26;SB=-686.93 GT:AD:DP:GL:GQ 1/1:0,59:53:-205.75,-15.97,-0.02:99 -chr1 3522563 rs6693192 A G 270.85 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=60.00;MQ0=0;OQ=513.63;QD=9.88;SB=-275.26 GT:AD:DP:GL:GQ 0/1:30,22:52:-70.32,-15.67,-121.33:99 -chr1 3522569 rs6678958 G A 350.18 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=60.00;MQ0=0;OQ=670.10;QD=13.14;SB=-343.79 GT:AD:DP:GL:GQ 0/1:29,22:51:-85.67,-15.38,-96.37:99 -chr1 3523424 rs55728961 C A 42.05 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=240.49;QD=10.46;SB=-10.00 GT:AD:DP:GL:GQ 0/1:14,9:23:-34.26,-6.93,-47.21:99 -chr1 3523484 rs56385042 T C 1.74 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=3;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=309.24;QD=11.89;SB=-6.99 GT:AD:DP:GL:GQ 0/1:12,14:26:-42.05,-7.84,-46.91:99 -chr1 3523847 rs10797404 T C 200.70 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.72;MQ0=0;OQ=602.56;QD=14.01;SB=-77.79 GT:AD:DP:GL:GQ 0/1:21,22:42:-76.19,-12.65,-81.56:99 -chr1 3524383 rs4648532 A G 19.20 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=2;HaplotypeScore=2.34;MQ=56.80;MQ0=0;OQ=354.98;QD=11.45;SB=-152.32 GT:AD:DP:GL:GQ 0/1:16,15:28:-47.22,-8.44,-59.85:99 -chr1 3524566 rs10909988 A G 146.87 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=60.00;MQ0=0;OQ=306.09;QD=9.28;SB=-127.66 GT:AD:DP:GL:GQ 0/1:17,15:30:-42.93,-9.04,-69.22:99 -chr1 3524652 rs7522500 G C 8.99 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=6.16;MQ=57.13;MQ0=0;OQ=583.92;QD=14.24;SB=-274.31 GT:AD:DP:GL:GQ 0/1:21,20:34:-71.93,-10.26,-66.25:99 -chr1 3524668 rs7522507 G A 205.38 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.19;MQ=57.92;MQ0=0;OQ=639.63;QD=14.21;SB=-315.32 GT:AD:DP:GL:GQ 0/1:22,23:42:-79.91,-12.67,-66.98:99 -chr1 3525324 rs7538707 A G 23.09 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=845.73;QD=19.67;SB=-223.67 GT:AD:DP:GL:GQ 0/1:16,27:42:-100.51,-12.65,-58.85:99 -chr1 3526188 rs4648533 G A 210.95 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=59.62;MQ0=0;OQ=1070.40;QD=17.55;SB=-483.49 GT:AD:DP:GL:GQ 0/1:29,32:60:-128.41,-18.08,-91.39:99 -chr1 3526260 rs4648534 T C 399.13 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.82;MQ0=0;OQ=652.36;QD=10.19;SB=-312.36 GT:AD:DP:GL:GQ 0/1:38,26:63:-87.50,-18.98,-151.40:99 -chr1 3526320 rs4648535 C A 306.52 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=54.45;MQ0=1;OQ=780.07;QD=10.99;SB=-371.06 GT:AD:DP:GL:GQ 0/1:40,31:67:-101.47,-20.18,-141.37:99 -chr1 3526422 rs4648399 A G 309.90 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=58.19;MQ0=0;OQ=1278.95;QD=17.52;SB=-632.97 GT:AD:DP:GL:GQ 0/1:30,43:71:-152.57,-21.39,-116.57:99 -chr1 3527222 rs4648400 A G 9.46 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=7.73;MQ=57.63;MQ0=0;OQ=603.16;QD=10.40;SB=-310.07 GT:AD:DP:GL:GQ 0/1:32,26:56:-80.48,-16.88,-126.15:99 -chr1 3527718 rs4648401 A G 74.64 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=2;HaplotypeScore=1.41;MQ=56.19;MQ0=0;OQ=587.94;QD=13.67;SB=-299.61 GT:AD:DP:GL:GQ 0/1:18,25:41:-74.44,-12.36,-73.19:99 -chr1 3528340 rs4400556 A T 87.37 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=2;HaplotypeScore=0.83;MQ=59.12;MQ0=0;OQ=994.97;QD=12.59;SB=-457.52 GT:AD:DP:GL:GQ 0/1:45,34:78:-126.28,-23.49,-166.80:99 -chr1 3528361 rs4364818 C T 460.83 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=58.38;MQ0=0;OQ=945.91;QD=13.14;SB=-450.44 GT:AD:DP:GL:GQ 0/1:42,30:72:-119.57,-21.70,-148.80:99 -chr1 3528695 rs6424087 G C 115.88 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=3.80;MQ=59.24;MQ0=0;OQ=909.93;QD=16.54;SB=-215.65 GT:AD:DP:GL:GQ 0/1:28,26:51:-109.65,-15.37,-108.54:99 -chr1 3528942 rs10909989 A G 309.85 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=2.12;MQ=59.00;MQ0=0;OQ=981.47;QD=13.82;SB=-369.60 GT:AD:DP:GL:GQ 0/1:36,35:70:-122.52,-21.09,-148.98:99 -chr1 3529341 rs10909990 A G 374.60 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=58.19;MQ0=0;OQ=916.10;QD=14.78;SB=-423.95 GT:AD:DP:GL:GQ 0/1:29,33:61:-113.27,-18.38,-114.82:99 -chr1 3529884 rs12757620 T G 87.41 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=3;HaplotypeScore=2.04;MQ=59.45;MQ0=0;OQ=798.71;QD=11.75;SB=-349.72 GT:AD:DP:GL:GQ 0/1:29,39:61:-101.54,-18.38,-103.90:99 -chr1 3532172 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=2;HaplotypeScore=4.52;MQ=58.17;MQ0=0;OQ=111.86;QD=2.19;SB=68.21 GT:AD:DP:GL:GQ 0/1:30,21:37:-25.62,-11.15,-96.21:99 -chr1 3535452 rs41315304 G A 150.86 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=2.69;MQ=58.25;MQ0=0;OQ=1069.05;QD=16.70;SB=-525.75 GT:AD:DP:GL:GQ 0/1:32,32:63:-129.18,-18.99,-99.29:99 -chr1 3536795 rs2821007 G A 330.18 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=59.23;MQ0=0;OQ=1047.23;QD=17.45;SB=-508.04 GT:AD:DP:GL:GQ 0/1:27,33:59:-125.78,-17.78,-94.59:99 -chr1 3537996 rs2760321 T C 53.51 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=58.11;MQ0=0;OQ=916.84;QD=24.78;SB=-335.79 GT:AD:DP:GL:GQ 1/1:0,37:31:-95.30,-9.36,-0.04:93.19 -chr1 3538692 rs2760320 G C 208.41 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=1.05;MQ=58.15;MQ0=0;OQ=946.49;QD=15.02;SB=-485.84 GT:AD:DP:GL:GQ 0/1:35,28:62:-116.63,-18.70,-140.41:99 -chr1 3540707 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=4;HaplotypeScore=6.24;MQ=58.05;MQ0=0;OQ=310.07;QD=8.61;SB=35.15 GT:AD:DP:GL:GQ 0/1:20,16:27:-42.43,-8.14,-74.49:99 -chr1 3542640 rs2821061 A G 174.99 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.68;MQ=60.00;MQ0=0;OQ=519.03;QD=10.38;SB=-253.57 GT:AD:DP:GL:GQ 0/1:27,23:48:-69.65,-14.47,-105.26:99 -chr1 3543649 rs2821058 T C 578.48 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.21;MQ0=0;OQ=1559.49;QD=29.42;SB=-616.98 GT:AD:DP:GL:GQ 1/1:0,53:50:-159.58,-15.08,-0.04:99 -chr1 3545730 rs2760318 T G 276.33 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=60.00;MQ0=0;OQ=500.47;QD=13.53;SB=-245.40 GT:AD:DP:GL:GQ 0/1:16,21:34:-63.58,-10.25,-53.36:99 -chr1 3546316 rs2760317 T C 74.82 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=1.30;MQ=59.23;MQ0=0;OQ=365.54;QD=12.18;SB=-82.96 GT:AD:DP:GL:GQ 0/1:16,13:27:-47.97,-8.14,-53.97:99 -chr1 3546766 rs2821032 A G 15.17 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=5.71;MQ=58.45;MQ0=0;OQ=501.73;QD=10.45;SB=-117.63 GT:AD:DP:GL:GQ 0/1:27,21:44:-66.72,-13.26,-92.65:99 -chr1 3546958 . G C 33.36 PASS AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=0;HaplotypeScore=2.55;MQ=52.99;MQ0=1;OQ=414.27;QD=15.34;SB=-224.70 GT:AD:DP:GL:GQ 0/1:11,16:20:-50.74,-6.03,-33.52:99 -chr1 3550868 rs12408890 C T 50.15 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=714.51;QD=21.65;SB=-10.00 GT:AD:DP:GL:GQ 0/1:11,22:31:-84.07,-9.34,-33.99:99 -chr1 3556431 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=2;HaplotypeScore=3.37;MQ=56.43;MQ0=0;OQ=64.63;QD=2.69;SB=26.11 GT:AD:DP:GL:GQ 0/1:20,4:17:-14.89,-5.14,-48.86:97.47 -chr1 3556566 rs2251098 G A 89.65 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=58.00;MQ0=0;OQ=575.61;QD=16.45;SB=-81.09 GT:AD:DP:GL:GQ 0/1:16,19:34:-71.09,-10.24,-59.62:99 -chr1 3560743 rs6697769 C T 108.18 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=2.77;MQ=59.11;MQ0=0;OQ=591.49;QD=14.08;SB=-304.84 GT:AD:DP:GL:GQ 0/1:21,21:39:-74.19,-11.76,-62.78:99 -chr1 3562592 rs10752739 A G 278.74 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=56.42;MQ0=0;OQ=804.83;QD=14.63;SB=-300.66 GT:AD:DP:GL:GQ 0/1:25,30:50:-98.83,-15.07,-88.55:99 -chr1 3562634 rs2181484 A G 237.08 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=59.09;MQ0=0;OQ=421.19;QD=9.16;SB=-138.88 GT:AD:DP:GL:GQ 0/1:25,21:41:-57.77,-12.36,-88.24:99 -chr1 3564279 rs9662739 T A 199.17 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=58.99;MQ0=0;OQ=516.88;QD=11.24;SB=-252.67 GT:AD:DP:GL:GQ 0/1:26,19:44:-68.23,-13.26,-93.50:99 -chr1 3564280 rs9662052 C A 196.24 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=58.99;MQ0=0;OQ=511.23;QD=11.11;SB=-234.91 GT:AD:DP:GL:GQ 0/1:27,19:44:-67.66,-13.26,-88.90:99 -chr1 3565050 rs2368543 T C 86.26 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=1.56;MQ=57.97;MQ0=0;OQ=928.11;QD=12.89;SB=-445.02 GT:AD:DP:GL:GQ 0/1:38,33:71:-117.49,-21.39,-151.96:99 -chr1 3565471 rs4648544 C T 133.93 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=3;HaplotypeScore=1.75;MQ=59.57;MQ0=0;OQ=791.33;QD=14.65;SB=-418.72 GT:AD:DP:GL:GQ 0/1:30,24:54:-98.68,-16.27,-109.24:99 -chr1 3565693 rs2208993 C G 156.42 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=59.21;MQ0=0;OQ=372.36;QD=11.28;SB=-74.78 GT:AD:DP:GL:GQ 0/1:21,12:29:-49.27,-8.75,-66.40:99 -chr1 3565739 rs2208992 C T 135.51 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=555.57;QD=16.34;SB=-208.21 GT:AD:DP:GL:GQ 0/1:17,17:34:-69.09,-10.25,-52.42:99 -chr1 3565920 rs2224718 T C 463.85 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.60;MQ0=0;OQ=705.17;QD=14.10;SB=-316.42 GT:AD:DP:GL:GQ 0/1:24,26:48:-88.27,-14.47,-84.73:99 -chr1 3567181 rs4648545 A G 559.92 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.78;MQ0=0;OQ=1256.11;QD=14.78;SB=-595.27 GT:AD:DP:GL:GQ 0/1:42,43:84:-154.20,-25.30,-171.31:99 -chr1 3568175 rs1885863 C T 33.02 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.95;MQ0=0;OQ=503.58;QD=17.98;SB=-117.62 GT:AD:DP:GL:GQ 0/1:13,15:28:-62.07,-8.43,-48.10:99 -chr1 3569688 rs1885861 A T 263.95 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=805.05;QD=14.38;SB=-228.60 GT:AD:DP:GL:GQ 0/1:30,26:55:-100.35,-16.57,-108.86:99 -chr1 3572104 rs6679556 T A 168.01 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=55.18;MQ0=0;OQ=534.82;QD=14.07;SB=-147.78 GT:AD:DP:GL:GQ 0/1:19,19:35:-67.31,-10.54,-60.93:99 -chr1 3572105 rs6679560 T G 310.70 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.18;MQ0=0;OQ=483.25;QD=12.72;SB=-122.88 GT:AD:DP:GL:GQ 0/1:19,19:35:-62.15,-10.55,-61.28:99 -chr1 3572847 rs1885860 T C 202.44 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=55.65;MQ0=0;OQ=1537.12;QD=28.47;SB=-796.29 GT:AD:DP:GL:GQ 1/1:0,54:50:-157.34,-15.08,-0.05:99 -chr1 3573552 rs1885859 G C 126.04 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=931.27;QD=19.81;SB=-452.38 GT:AD:DP:GL:GQ 0/1:21,26:45:-109.97,-13.56,-87.15:99 -chr1 3575442 rs3765694 G A 29.42 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=58.20;MQ0=0;OQ=1425.18;QD=36.54;SB=-559.30 GT:AD:DP:GL:GQ 1/1:0,39:37:-146.12,-11.15,-0.01:99 -chr1 3575611 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=3;HaplotypeScore=1.74;MQ=57.17;MQ0=0;OQ=76.89;QD=3.08;SB=14.07 GT:AD:DP:GL:GQ 0/1:14,11:13:-14.90,-3.93,-34.07:99 -chr1 3576288 rs1009345 G A 91.26 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=59.80;MQ0=0;OQ=1800.40;QD=39.14;SB=-661.66 GT:AD:DP:GL:GQ 1/1:0,46:46:-183.64,-13.86,-0.02:99 -chr1 3576560 rs6657895 G A 60.54 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=4.17;MQ=59.27;MQ0=0;OQ=1276.11;QD=33.58;SB=-586.96 GT:AD:DP:GL:GQ 1/1:1,37:35:-131.22,-10.55,-0.02:99 -chr1 3577406 rs3765697 C T 0.76 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=5.64;MQ=56.35;MQ0=0;OQ=1305.04;QD=33.46;SB=-441.58 GT:AD:DP:GL:GQ 1/1:0,39:35:-134.11,-10.55,-0.02:99 -chr1 3578761 rs3765700 G C 611.89 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.19;MQ0=0;OQ=1985.98;QD=38.19;SB=-981.19 GT:AD:DP:GL:GQ 1/1:0,52:47:-202.21,-14.17,-0.02:99 -chr1 3578861 rs3765701 T A 287.36 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.60;MQ0=0;OQ=1646.63;QD=35.03;SB=-839.93 GT:AD:DP:GL:GQ 1/1:0,47:46:-168.27,-13.86,-0.02:99 -chr1 3579831 rs56255778 C A 326.05 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.49;MQ=59.60;MQ0=0;OQ=723.70;QD=12.70;SB=-343.37 GT:AD:DP:GL:GQ 0/1:30,27:51:-91.02,-15.37,-85.23:99 -chr1 3580285 rs6671482 G A 126.17 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=60.00;MQ0=0;OQ=1575.76;QD=35.81;SB=-662.31 GT:AD:DP:GL:GQ 1/1:1,43:41:-161.17,-12.35,-0.01:99 -chr1 3587189 . C T 94.68 PASS AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=58.81;MQ0=0;OQ=415.33;QD=10.65;SB=-200.88 GT:AD:DP:GL:GQ 0/1:25,14:37:-55.97,-11.16,-70.24:99 -chr1 3594672 rs12562573 G A 160.10 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.84;MQ=59.53;MQ0=0;OQ=1829.37;QD=37.33;SB=-900.21 GT:AD:DP:GL:GQ 1/1:0,49:48:-186.54,-14.47,-0.02:99 -chr1 3594957 rs1885872 G A 83.22 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.18;MQ=59.07;MQ0=0;OQ=1704.97;QD=37.89;SB=-859.63 GT:AD:DP:GL:GQ 1/1:0,45:44:-174.10,-13.26,-0.02:99 -chr1 3595447 rs1885870 G C 563.54 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.58;MQ0=0;OQ=1514.49;QD=32.92;SB=-721.32 GT:AD:DP:GL:GQ 1/1:1,45:40:-155.08,-12.08,-0.04:99 -chr1 3596410 rs3765725 C T 84.63 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.54;MQ0=0;OQ=1239.60;QD=30.23;SB=-472.10 GT:AD:DP:GL:GQ 1/1:0,41:33:-127.56,-9.95,-0.02:99 -chr1 3596486 rs3765727 G A 208.84 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.62;MQ0=0;OQ=883.29;QD=18.03;SB=-364.54 GT:AD:DP:GL:GQ 0/1:22,27:47:-105.77,-14.16,-69.54:99 -chr1 3596710 rs3765728 G A 119.20 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.63;MQ0=0;OQ=1974.23;QD=38.71;SB=-814.08 GT:AD:DP:GL:GQ 1/1:0,51:50:-201.02,-15.06,-0.01:99 -chr1 3597380 rs3765730 G A 180.45 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.40;MQ0=0;OQ=530.99;QD=17.13;SB=-202.91 GT:AD:DP:GL:GQ 0/1:13,18:30:-65.42,-9.04,-41.88:99 -chr1 3597871 rs10732965 C T 75.34 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=57.81;MQ0=0;OQ=940.44;QD=33.59;SB=-454.61 GT:AD:DP:GL:GQ 1/1:0,27:25:-97.64,-7.53,-0.01:75.24 -chr1 3598087 rs34868661 A G 136.79 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=59.05;MQ0=0;OQ=432.49;QD=9.83;SB=-227.39 GT:AD:DP:GL:GQ 0/1:23,20:41:-58.89,-12.36,-89.12:99 -chr1 3598141 rs12126706 C T 141.99 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=58.13;MQ0=0;OQ=455.42;QD=13.01;SB=-109.06 GT:AD:DP:GL:GQ 0/1:19,16:32:-58.47,-9.65,-57.68:99 -chr1 3598905 rs1078687 G A 163.20 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=58.42;MQ0=0;OQ=1623.93;QD=33.83;SB=-687.95 GT:AD:DP:GL:GQ 1/1:0,47:43:-166.00,-12.96,-0.02:99 -chr1 3599033 rs879622 G A 151.46 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=59.44;MQ0=0;OQ=684.79;QD=16.70;SB=-307.82 GT:AD:DP:GL:GQ 0/1:19,22:37:-82.91,-11.15,-57.20:99 -chr1 3599257 rs879621 C A 346.01 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.17;MQ0=0;OQ=766.56;QD=13.69;SB=-343.33 GT:AD:DP:GL:GQ 0/1:29,27:55:-96.51,-16.57,-104.71:99 -chr1 3599783 rs2146660 A G 32.89 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=3.25;MQ=57.85;MQ0=0;OQ=1704.59;QD=34.79;SB=-814.09 GT:AD:DP:GL:GQ 1/1:0,49:49:-174.06,-14.76,-0.02:99 -chr1 3600146 . T C 37.22 LowQual AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=2;HaplotypeScore=1.56;MQ=40.64;MQ0=2;QD=1.16;SB=-35.23 GT:AD:DP:GL:GQ 0/1:25,6:25:-14.54,-7.54,-78.76:70.05 -chr1 3600159 rs34095686 C A 8.52 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=38.58;MQ0=3;OQ=139.88;QD=4.37;SB=-64.01 GT:AD:DP:GL:GQ 0/1:23,9:27:-25.41,-8.14,-69.86:99 -chr1 3600191 . C G 0.30 PASS AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=5.79;MQ=36.62;MQ0=7;OQ=200.47;QD=5.90;SB=-62.84 GT:AD:DP:GL:GQ 0/1:21,13:22:-29.96,-6.63,-63.33:99 -chr1 3600194 rs34612797 A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=3;HaplotypeScore=5.12;MQ=34.72;MQ0=8;OQ=74.27;QD=2.12;SB=-16.93 GT:AD:DP:GL:GQ 0/1:24,11:20:-16.74,-6.03,-51.18:99 -chr1 3600242 . C T 27.02 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=33;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=31.01;MQ0=9;QD=0.82;SB=14.05 GT:AD:DP:GL:GQ 0/1:28,5:16:-10.81,-4.82,-45.03:59.85 -chr1 3600252 . G A 0.25 PASS AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=0;HaplotypeScore=5.21;MQ=33.15;MQ0=7;OQ=119.84;QD=4.99;SB=-7.00 GT:AD:DP:GL:GQ 0/1:19,5:10:-18.28,-3.02,-16.17:99 -chr1 3600264 rs61762234 A C 2.70 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.00;HRun=2;HaplotypeScore=2.09;MQ=34.74;MQ0=5;OQ=244.22;QD=13.57;SB=-10.00 GT:AD:DP:GL:GQ 1/1:4,14:8:-28.01,-2.41,-0.00:24.07 -chr1 3600309 . C A 44.81 LowQual AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=28.74;MQ0=1;QD=8.96;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,5:2:-7.89,-0.60,-0.00:6.02 -chr1 3600350 . C T 27.34 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=1;HaplotypeScore=4.81;MQ=17.75;MQ0=4;QD=2.28;SB=-31.62 GT:AD:DP:GL:GQ 0/1:8,4:3:-6.92,-0.91,-3.40:24.94 -chr1 3600367 rs35012159 G C 33.49 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=10.16;MQ=14.95;MQ0=16;QD=0.93;SB=-40.88 GT:AD:DP:GL:GQ 0/1:29,7:6:-8.44,-1.81,-16.03:66.33 -chr1 3600427 . C T 85.30 DPFilter;HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=98;Dels=0.00;HRun=0;HaplotypeScore=22.31;MQ=14.22;MQ0=48;QD=0.87;SB=11.05 GT:AD:DP:GL:GQ 0/1:88,10:24:-19.05,-7.24,-63.74:99 -chr1 3600428 . G A 105.38 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=94;Dels=0.00;HRun=0;HaplotypeScore=22.15;MQ=14.50;MQ0=46;QD=1.12;SB=-26.63 GT:AD:DP:GL:GQ 0/1:84,9:25:-21.36,-7.54,-60.74:99 -chr1 3600437 . G C 161.98 HARD_TO_VALIDATE;SnpCluster AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=2;HaplotypeScore=28.11;MQ=14.54;MQ0=44;QD=1.78;SB=-27.40 GT:AD:DP:GL:GQ 0/1:81,9:25:-27.02,-7.53,-80.42:99 -chr1 3600440 . A C 23.09 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=2;HaplotypeScore=12.59;MQ=14.51;MQ0=44;QD=0.25;SB=-17.83 GT:AD:DP:GL:GQ 0/1:72,19:25:-13.12,-7.53,-77.67:55.91 -chr1 3600470 . C T 26.44 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=13.21;MQ=11.80;MQ0=28;QD=0.61;SB=2.03 GT:AD:DP:GL:GQ 0/1:41,2:8:-8.34,-2.41,-20.77:59.27 -chr1 3600475 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=2;HaplotypeScore=2.58;MQ=10.93;MQ0=23;OQ=89.38;QD=2.48;SB=-3.98 GT:AD:DP:GL:GQ 0/1:21,15:6:-14.03,-1.81,-7.79:59.84 -chr1 3600532 . C T 45.13 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=11.72;MQ0=9;QD=2.65;SB=-47.67 GT:AD:DP:GL:GQ 1/1:12,5:2:-7.92,-0.60,-0.00:6.02 -chr1 3600545 . A C 20.73 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=2;HaplotypeScore=0.73;MQ=18.85;MQ0=10;QD=0.80;SB=-32.99 GT:AD:DP:GL:GQ 0/1:14,12:4:-6.56,-1.20,-7.53:53.53 -chr1 3600575 . C T 0.06 PASS AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=0;HaplotypeScore=7.34;MQ=23.21;MQ0=9;OQ=164.83;QD=5.49;SB=-77.08 GT:AD:DP:GL:GQ 0/1:24,6:9:-22.48,-2.71,-11.26:85.52 -chr1 3600578 . C T 0.49 PASS AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=23.98;MQ0=9;OQ=197.36;QD=6.81;SB=-112.62 GT:AD:DP:GL:GQ 0/1:22,7:11:-26.34,-3.32,-14.46:99 -chr1 3600596 . C T 0.28 PASS AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=33.58;MQ0=0;OQ=353.36;QD=25.24;SB=-175.22 GT:AD:DP:GL:GQ 1/1:0,14:10:-38.92,-3.01,-0.01:30.09 -chr1 3600667 . C T 19.38 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=18;Dels=0.00;HRun=1;HaplotypeScore=14.09;MQ=16.96;MQ0=7;QD=1.08;SB=-29.64 GT:AD:DP:GL:GQ 0/1:14,4:7:-7.33,-2.11,-16.23:52.17 -chr1 3600709 . C T 32.48 PASS AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=3.31;MQ=14.75;MQ0=16;OQ=271.94;QD=8.77;SB=-129.00 GT:AD:DP:GL:GQ 1/1:10,20:8:-30.78,-2.41,-0.00:24.07 -chr1 3600734 . C A 11.22 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=17.16;MQ0=10;QD=0.59;SB=-7.00 GT:AD:DP:GL:GQ 0/1:17,2:6:-6.18,-1.81,-13.77:43.72 -chr1 3600738 . C T 23.24 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=1;HaplotypeScore=5.72;MQ=17.16;MQ0=10;QD=1.22;SB=-6.99 GT:AD:DP:GL:GQ 0/1:14,5:6:-7.41,-1.81,-13.10:56.06 -chr1 3600746 . G A 0.90 PASS AC=1;AF=0.50;AN=2;DP=22;Dels=0.00;HRun=0;HaplotypeScore=5.14;MQ=19.46;MQ0=10;OQ=147.44;QD=6.70;SB=-47.55 GT:AD:DP:GL:GQ 0/1:6,16:6:-19.82,-1.81,-3.10:12.90 -chr1 3600943 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=1;HaplotypeScore=3.94;MQ=10.81;MQ0=18;OQ=79.37;QD=2.27;SB=-10.00 GT:AD:DP:GL:GQ 0/1:27,8:5:-12.73,-1.51,-3.55:20.36 -chr1 3600944 . G A 31.47 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=1;HaplotypeScore=3.94;MQ=10.97;MQ0=17;QD=0.93;SB=-10.00 GT:AD:DP:GL:GQ 0/1:32,2:5:-7.94,-1.51,-9.29:64.30 -chr1 3600955 . C T 29.25 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=3.80;MQ=11.72;MQ0=17;QD=0.91;SB=-10.00 GT:AD:DP:GL:GQ 0/1:25,7:6:-8.02,-1.81,-11.97:62.08 -chr1 3600968 . A C 27.28 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=2;HaplotypeScore=4.96;MQ=11.75;MQ0=20;QD=0.80;SB=-10.00 GT:AD:DP:GL:GQ 0/1:18,16:5:-7.52,-1.51,-9.32:60.10 -chr1 3601000 . G C 23.03 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=2;HaplotypeScore=12.60;MQ=11.01;MQ0=30;QD=0.46;SB=-6.99 GT:AD:DP:GL:GQ 0/1:44,6:9:-8.30,-2.71,-30.70:55.84 -chr1 3601003 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=2;HaplotypeScore=15.11;MQ=12.05;MQ0=28;OQ=191.04;QD=3.75;SB=-6.99 GT:AD:DP:GL:GQ 0/1:28,23:11:-25.70,-3.31,-14.21:99 -chr1 3601025 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=13.71;MQ=14.27;MQ0=33;OQ=53.75;QD=0.96;SB=-3.99 GT:AD:DP:GL:GQ 0/1:46,9:10:-11.67,-3.01,-22.44:86.59 -chr1 3601070 rs36156048 C G 0.13 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=10.95;MQ=20.17;MQ0=10;OQ=79.41;QD=3.18;SB=-46.45 GT:AD:DP:GL:GQ 0/1:14,11:6:-13.03,-1.81,-11.69:98.78 -chr1 3601096 . G A 20.37 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=8.03;MQ=17.90;MQ0=5;QD=1.20;SB=-27.52 GT:AD:DP:GL:GQ 0/1:13,3:5:-6.83,-1.51,-8.44:53.16 -chr1 3601143 . A C 0.18 PASS AC=1;AF=0.50;AN=2;DP=23;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=20.37;MQ0=7;OQ=150.35;QD=6.54;SB=-72.98 GT:AD:DP:GL:GQ 0/1:14,9:10:-21.33,-3.01,-13.91:99 -chr1 3601165 . C T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=30;Dels=0.00;HRun=0;HaplotypeScore=11.69;MQ=24.21;MQ0=10;OQ=173.39;QD=5.78;SB=-3.99 GT:AD:DP:GL:GQ 0/1:22,8:11:-23.94,-3.31,-15.90:99 -chr1 3601175 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=2;HaplotypeScore=35.74;MQ=29.63;MQ0=10;OQ=194.57;QD=4.75;SB=-123.70 GT:AD:DP:GL:GQ 0/1:27,14:21:-29.07,-6.33,-61.55:99 -chr1 3601178 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=2;HaplotypeScore=14.60;MQ=30.57;MQ0=8;OQ=427.34;QD=9.94;SB=-58.96 GT:AD:DP:GL:GQ 0/1:21,22:25:-53.55,-7.53,-34.82:99 -chr1 3601218 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=2;HaplotypeScore=16.31;MQ=41.71;MQ0=5;OQ=182.10;QD=2.43;SB=-33.64 GT:AD:DP:GL:GQ 0/1:61,14:63:-40.49,-19.00,-224.09:99 -chr1 3601225 rs12722819 A C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=3;HaplotypeScore=15.63;MQ=42.30;MQ0=5;OQ=524.29;QD=6.32;SB=-141.88 GT:AD:DP:GL:GQ 0/1:52,30:59:-73.50,-17.79,-124.07:99 -chr1 3601229 rs12727450 T C 0.93 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=3;HaplotypeScore=5.92;MQ=43.45;MQ0=6;OQ=762.30;QD=9.07;SB=-332.31 GT:AD:DP:GL:GQ 0/1:49,35:67:-99.71,-20.19,-147.26:99 -chr1 3601341 rs12239528 C T 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.01;HRun=0;HaplotypeScore=14.56;MQ=44.93;MQ0=17;OQ=62.54;QD=0.70;SB=44.13 GT:AD:DP:GL:GQ 0/1:79,8:62:-27.92,-18.38,-184.40:95.37 -chr1 3601342 rs11581562 G A 0.21 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.01;HRun=0;HaplotypeScore=14.40;MQ=44.68;MQ0=18;OQ=819.35;QD=9.10;SB=-177.16 GT:AD:DP:GL:GQ 0/1:53,33:59:-102.70,-17.49,-103.40:99 -chr1 3601389 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=2;HaplotypeScore=7.82;MQ=44.29;MQ0=18;OQ=186.02;QD=2.30;SB=-61.02 GT:AD:DP:GL:GQ 0/1:62,19:52:-37.55,-15.67,-142.29:99 -chr1 3601457 rs10910012 A G 122.78 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=54.59;MQ0=0;OQ=1506.74;QD=29.54;SB=-756.93 GT:AD:DP:GL:GQ 1/1:0,51:48:-154.31,-14.48,-0.05:99 -chr1 3601752 rs3765731 G A 361.77 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=59.28;MQ0=0;OQ=1001.62;QD=15.65;SB=-488.04 GT:AD:DP:GL:GQ 0/1:31,33:59:-121.23,-17.79,-88.90:99 -chr1 3601820 rs3765732 G A 2.96 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=59.03;MQ0=0;OQ=1613.11;QD=33.61;SB=-476.00 GT:AD:DP:GL:GQ 1/1:0,46:44:-167.13,-15.44,-2.23:99 -chr1 3602293 rs1885869 T C 376.91 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1214.50;QD=32.82;SB=-519.18 GT:AD:DP:GL:GQ 1/1:0,37:35:-125.05,-10.54,-0.02:99 -chr1 3603630 rs10910013 C T 111.93 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=59.47;MQ0=0;OQ=534.95;QD=15.28;SB=-205.85 GT:AD:DP:GL:GQ 0/1:18,17:34:-67.02,-10.25,-59.55:99 -chr1 3603781 rs35837097 A G 62.33 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=1.60;MQ=59.60;MQ0=0;OQ=546.71;QD=11.63;SB=-279.27 GT:AD:DP:GL:GQ 0/1:23,24:43:-70.92,-12.96,-83.70:99 -chr1 3605288 rs11580811 G A 73.23 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=2.02;MQ=59.17;MQ0=0;OQ=263.75;QD=9.42;SB=-51.00 GT:AD:DP:GL:GQ 0/1:17,11:22:-36.29,-6.63,-43.95:99 -chr1 3606461 rs3765736 C T 194.21 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=57.38;MQ0=0;OQ=406.81;QD=15.07;SB=-214.90 GT:AD:DP:GL:GQ 0/1:13,14:23:-50.90,-6.93,-35.03:99 -chr1 3606652 rs3765737 A G 468.77 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.79;MQ0=0;OQ=799.22;QD=12.89;SB=-323.13 GT:AD:DP:GL:GQ 0/1:30,32:60:-101.29,-18.08,-117.49:99 -chr1 3606658 rs3765738 G A 253.54 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=58.79;MQ0=0;OQ=935.05;QD=15.08;SB=-404.78 GT:AD:DP:GL:GQ 0/1:33,29:61:-115.17,-18.38,-103.51:99 -chr1 3606835 rs4610947 C A 292.86 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=60.39;MQ0=0;OQ=957.03;QD=17.09;SB=-493.95 GT:AD:DP:GL:GQ 0/1:24,31:55:-115.55,-16.56,-86.20:99 -chr1 3606979 rs4378145 G A 258.79 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=57.58;MQ0=5;OQ=1287.24;QD=16.29;SB=-484.49 GT:AD:DP:GL:GQ 0/1:40,39:72:-153.70,-21.69,-124.59:99 -chr1 3607481 rs3765739 A G 35.10 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=2.69;MQ=56.52;MQ0=0;OQ=316.46;QD=9.31;SB=-99.71 GT:AD:DP:GL:GQ 0/1:16,18:27:-43.07,-8.14,-49.38:99 -chr1 3608425 rs3819959 T C 21.46 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=2.02;MQ=53.67;MQ0=0;OQ=372.33;QD=9.08;SB=-195.61 GT:AD:DP:GL:GQ 0/1:23,18:34:-50.76,-10.24,-80.92:99 -chr1 3608574 rs3765740 T G 43.97 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=2;HaplotypeScore=1.03;MQ=59.11;MQ0=0;OQ=373.92;QD=14.38;SB=-208.83 GT:AD:DP:GL:GQ 0/1:12,14:26:-48.51,-7.83,-42.30:99 -chr1 3608643 rs3765741 A G 139.94 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.25;MQ0=0;OQ=277.44;QD=11.10;SB=-3.99 GT:AD:DP:GL:GQ 0/1:13,12:23:-37.96,-6.93,-45.69:99 -chr1 3608686 rs3765742 G A 11.54 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=299.52;QD=14.98;SB=-7.00 GT:AD:DP:GL:GQ 0/1:9,11:19:-38.96,-5.72,-31.25:99 -chr1 3608969 rs3765743 C T 17.24 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=60.00;MQ0=0;OQ=315.53;QD=15.78;SB=-3.99 GT:AD:DP:GL:GQ 0/1:10,10:19:-40.56,-5.72,-31.07:99 -chr1 3609567 rs4648550 T A 206.11 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.98;MQ0=0;OQ=1535.78;QD=37.46;SB=-673.01 GT:AD:DP:GL:GQ 1/1:0,41:41:-157.17,-12.35,-0.01:99 -chr1 3609807 rs34881405 T C 7.83 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=0.49;MQ=57.54;MQ0=0;OQ=345.64;QD=7.86;SB=-128.25 GT:AD:DP:GL:GQ 0/1:24,20:40:-49.91,-12.06,-96.00:99 -chr1 3610040 rs17379833 A T 163.16 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=59.52;MQ0=0;OQ=999.11;QD=20.81;SB=-480.53 GT:AD:DP:GL:GQ 0/1:16,32:47:-117.35,-14.16,-58.41:99 -chr1 3610295 rs12742969 A G 136.51 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=514.16;QD=10.49;SB=-277.41 GT:AD:DP:GL:GQ 0/1:28,21:47:-68.86,-14.16,-115.22:99 -chr1 3610320 rs12735439 C A 230.39 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=60.00;MQ0=0;OQ=801.03;QD=16.35;SB=-378.77 GT:AD:DP:GL:GQ 0/1:22,27:48:-97.85,-14.46,-70.21:99 -chr1 3611339 rs3765749 A T 129.18 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=60.00;MQ0=0;OQ=640.71;QD=17.32;SB=-252.96 GT:AD:DP:GL:GQ 0/1:16,21:36:-78.20,-10.84,-56.57:99 -chr1 3612044 rs3765751 A G 0.64 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=6.05;MQ=58.84;MQ0=0;OQ=1141.41;QD=28.54;SB=-361.32 GT:AD:DP:GL:GQ 1/1:0,39:37:-117.76,-11.16,-0.04:99 -chr1 3612141 rs3765752 G A 98.32 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.42;MQ0=0;OQ=790.33;QD=19.76;SB=-403.21 GT:AD:DP:GL:GQ 0/1:16,24:40:-94.37,-12.05,-52.81:99 -chr1 3612166 rs3765753 T G 307.87 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.36;MQ0=0;OQ=1135.84;QD=31.55;SB=-218.90 GT:AD:DP:GL:GQ 1/1:0,36:34:-117.19,-10.25,-0.02:99 -chr1 3612496 rs12086279 A T 144.33 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=53.76;MQ0=0;OQ=264.24;QD=12.01;SB=-145.87 GT:AD:DP:GL:GQ 0/1:12,10:20:-35.73,-6.03,-37.15:99 -chr1 3612742 rs56124535 A G 117.78 PASS AC=1;AF=0.50;AN=2;DB;DP=19;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=57.14;MQ0=0;OQ=143.16;QD=7.53;SB=-61.32 GT:AD:DP:GL:GQ 0/1:9,9:16:-22.43,-4.83,-33.66:99 -chr1 3612752 rs55976062 T C 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=19;Dels=0.00;HRun=2;HaplotypeScore=16.88;MQ=55.46;MQ0=1;OQ=130.66;QD=6.88;SB=-60.86 GT:AD:DP:GL:GQ 0/1:11,8:16:-21.17,-4.82,-37.90:99 -chr1 3612857 rs10910014 T C 4.06 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=2.85;MQ=45.10;MQ0=1;OQ=122.28;QD=3.82;SB=-65.87 GT:AD:DP:GL:GQ 0/1:18,14:19:-21.24,-5.73,-45.71:99 -chr1 3612894 rs58140697 A G 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=4;HaplotypeScore=5.46;MQ=58.05;MQ0=0;OQ=210.19;QD=8.76;SB=-118.71 GT:AD:DP:GL:GQ 0/1:15,9:22:-30.93,-6.63,-52.73:99 -chr1 3612902 rs60071664 T C 130.61 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=57.06;MQ0=0;OQ=194.42;QD=7.48;SB=-106.60 GT:AD:DP:GL:GQ 0/1:16,10:25:-30.26,-7.53,-62.36:99 -chr1 3613185 rs12564843 G C 7.11 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=53.89;MQ0=0;OQ=1382.10;QD=38.39;SB=-571.48 GT:AD:DP:GL:GQ 1/1:0,36:33:-141.81,-9.95,-0.02:99 -chr1 3613274 rs9786966 A G 67.74 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=4.62;MQ=57.45;MQ0=0;OQ=414.03;QD=10.62;SB=-167.59 GT:AD:DP:GL:GQ 0/1:21,18:36:-55.53,-10.85,-77.07:99 -chr1 3613481 rs55657548 C T 77.12 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=58.92;MQ0=0;OQ=252.32;QD=6.47;SB=-105.49 GT:AD:DP:GL:GQ 0/1:27,11:38:-39.97,-11.45,-93.41:99 -chr1 3614769 rs10910016 G A 258.29 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.33;MQ=59.57;MQ0=0;OQ=815.07;QD=15.09;SB=-428.45 GT:AD:DP:GL:GQ 0/1:27,26:50:-99.87,-15.07,-79.93:99 -chr1 3615542 rs3765755 G C 6.35 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=2;HaplotypeScore=3.76;MQ=57.56;MQ0=0;OQ=289.35;QD=10.72;SB=-124.51 GT:AD:DP:GL:GQ 0/1:17,10:20:-38.26,-6.05,-38.86:99 -chr1 3615628 rs2368540 G A 45.74 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=57.64;MQ0=0;OQ=1334.80;QD=39.26;SB=-676.69 GT:AD:DP:GL:GQ 1/1:0,34:34:-137.07,-10.24,-0.01:99 -chr1 3615736 rs2368539 G A 82.76 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=3.19;MQ=58.99;MQ0=0;OQ=1720.73;QD=37.41;SB=-824.61 GT:AD:DP:GL:GQ 1/1:0,46:45:-175.68,-13.56,-0.02:99 -chr1 3616028 rs12130809 G A 272.35 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=838.34;QD=17.11;SB=-389.14 GT:AD:DP:GL:GQ 0/1:23,26:48:-101.58,-14.46,-75.57:99 -chr1 3616588 rs3753208 C T 1.11 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=1;HaplotypeScore=2.44;MQ=57.64;MQ0=0;OQ=539.82;QD=20.76;SB=-254.78 GT:AD:DP:GL:GQ 0/1:9,17:24:-64.50,-7.23,-25.72:99 -chr1 3616624 rs3753209 G A 11.81 PASS AC=1;AF=0.50;AN=2;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=58.89;MQ0=0;OQ=522.74;QD=24.89;SB=-281.33 GT:AD:DP:GL:GQ 0/1:4,17:19:-61.28,-5.73,-9.34:36.13 -chr1 3618071 rs3819961 T C 130.28 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=2.02;MQ=59.30;MQ0=0;OQ=302.64;QD=9.17;SB=-168.93 GT:AD:DP:GL:GQ 0/1:19,14:29:-42.29,-8.74,-60.25:99 -chr1 3618163 rs3819962 C T 161.54 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.36;MQ0=0;OQ=457.21;QD=12.70;SB=-166.18 GT:AD:DP:GL:GQ 0/1:20,16:35:-59.55,-10.55,-68.25:99 -chr1 3618201 rs3819963 C T 122.91 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.07;MQ=60.00;MQ0=0;OQ=469.25;QD=9.98;SB=-160.23 GT:AD:DP:GL:GQ 0/1:28,19:40:-62.27,-12.06,-77.68:99 -chr1 3618523 rs6424089 A G 234.40 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.55;MQ0=0;OQ=515.26;QD=10.10;SB=-135.54 GT:AD:DP:GL:GQ 0/1:28,23:50:-69.88,-15.07,-112.69:99 -chr1 3618537 rs6424090 A G 547.53 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.83;MQ0=0;OQ=1664.50;QD=30.82;SB=-446.16 GT:AD:DP:GL:GQ 1/1:0,54:52:-170.07,-15.68,-0.04:99 -chr1 3619132 rs61568045 A T 75.76 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=1.40;MQ=60.00;MQ0=0;OQ=702.41;QD=14.05;SB=-308.70 GT:AD:DP:GL:GQ 0/1:27,23:49:-88.29,-14.76,-94.54:99 -chr1 3619452 rs3765758 A G 47.37 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.30;MQ0=0;OQ=878.57;QD=26.62;SB=-355.42 GT:AD:DP:GL:GQ 1/1:0,33:30:-91.48,-9.06,-0.04:90.16 -chr1 3620336 rs3765761 C T 430.43 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.64;MQ0=0;OQ=893.13;QD=17.18;SB=-472.49 GT:AD:DP:GL:GQ 0/1:25,27:51:-107.96,-15.36,-81.84:99 -chr1 3620975 rs3765763 C A 252.43 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.39;MQ0=0;OQ=502.24;QD=13.22;SB=-232.36 GT:AD:DP:GL:GQ 0/1:20,18:37:-64.65,-11.14,-68.16:99 -chr1 3621759 rs61759267 C T 206.85 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=58.40;MQ0=0;OQ=667.68;QD=16.28;SB=-326.34 GT:AD:DP:GL:GQ 0/1:19,22:40:-82.11,-12.06,-61.46:99 -chr1 3622468 rs3753211 T C 35.06 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=6.67;MQ=58.45;MQ0=0;OQ=511.74;QD=11.37;SB=-197.62 GT:AD:DP:GL:GQ 0/1:23,22:42:-67.14,-12.68,-73.45:99 -chr1 3622590 rs4648551 G A 13.99 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=8.04;MQ=59.11;MQ0=0;OQ=881.37;QD=14.94;SB=-385.40 GT:AD:DP:GL:GQ 0/1:30,29:55:-108.00,-16.58,-90.70:99 -chr1 3623397 rs3765764 G A 5.20 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=59.59;MQ0=0;OQ=1699.76;QD=37.77;SB=-349.25 GT:AD:DP:GL:GQ 1/1:0,44:44:-176.03,-15.59,-2.47:99 -chr1 3624319 rs3765765 C A 38.07 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.38;MQ0=0;OQ=752.18;QD=20.33;SB=-184.22 GT:AD:DP:GL:GQ 0/1:13,24:36:-89.34,-10.84,-42.24:99 -chr1 3624520 rs3765766 T C 10.08 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=2;HaplotypeScore=2.32;MQ=58.08;MQ0=0;OQ=679.70;QD=30.90;SB=-324.14 GT:AD:DP:GL:GQ 1/1:0,22:21:-71.57,-6.33,-0.02:63.16 -chr1 3625325 rs3765767 G C 128.03 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=59.30;MQ0=0;OQ=648.42;QD=19.65;SB=-303.36 GT:AD:DP:GL:GQ 0/1:15,18:33:-78.07,-9.95,-65.85:99 -chr1 3625451 rs3765768 C T 99.15 PASS AC=1;AF=0.50;AN=2;DB;DP=22;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=57.87;MQ0=0;OQ=372.64;QD=16.94;SB=-111.62 GT:AD:DP:GL:GQ 0/1:9,13:20:-46.58,-6.03,-24.55:99 -chr1 3625480 rs3819968 G T 164.17 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.32;MQ0=0;OQ=519.45;QD=15.28;SB=-228.94 GT:AD:DP:GL:GQ 0/1:15,19:32:-64.87,-9.64,-47.62:99 -chr1 3627107 rs3765771 G C 208.39 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.53;MQ0=0;OQ=1861.37;QD=37.99;SB=-769.21 GT:AD:DP:GL:GQ 1/1:0,49:48:-189.76,-14.49,-0.04:99 -chr1 3627319 rs12731705 C T 198.62 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.16;MQ0=0;OQ=1887.80;QD=37.76;SB=-826.61 GT:AD:DP:GL:GQ 1/1:0,50:48:-192.38,-14.46,-0.01:99 -chr1 3627473 rs2146658 T G 374.11 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=58.91;MQ0=0;OQ=603.03;QD=10.05;SB=-295.81 GT:AD:DP:GL:GQ 0/1:35,25:58:-81.06,-17.47,-122.08:99 -chr1 3627672 rs2181487 C A 40.28 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=4.14;MQ=58.10;MQ0=0;OQ=433.83;QD=7.35;SB=-156.52 GT:AD:DP:GL:GQ 0/1:34,22:49:-61.43,-14.77,-105.52:99 -chr1 3628534 rs1801174 C T 158.46 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=59.66;MQ0=0;OQ=2550.78;QD=38.07;SB=-965.29 GT:AD:DP:GL:GQ 1/1:0,67:65:-258.68,-19.58,-0.02:99 -chr1 3628694 rs12737840 C T 176.16 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.52;MQ=58.05;MQ0=0;OQ=694.01;QD=14.46;SB=-295.84 GT:AD:DP:GL:GQ 0/1:22,26:42:-85.35,-12.67,-62.54:99 -chr1 3629503 rs4648552 T C 338.68 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.46;MQ0=0;OQ=1294.39;QD=30.10;SB=-605.94 GT:AD:DP:GL:GQ 1/1:0,43:41:-133.06,-12.37,-0.04:99 -chr1 3629584 rs7537335 G A 0.43 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=58.30;MQ0=0;OQ=677.32;QD=21.85;SB=-284.30 GT:AD:DP:GL:GQ 0/1:10,21:29:-79.75,-8.74,-30.01:99 -chr1 3629945 rs6424091 C G 0.03 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=5;HaplotypeScore=2.31;MQ=58.54;MQ0=0;OQ=1470.54;QD=38.70;SB=-622.99 GT:AD:DP:GL:GQ 1/1:0,38:35:-150.65,-10.55,-0.01:99 -chr1 3630886 rs6687491 G A 255.56 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=58.48;MQ0=0;OQ=516.42;QD=12.91;SB=-227.77 GT:AD:DP:GL:GQ 0/1:22,18:36:-65.79,-10.86,-57.81:99 -chr1 3630983 rs6701784 A C 437.82 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.55;MQ0=0;OQ=1276.86;QD=28.37;SB=-579.85 GT:AD:DP:GL:GQ 1/1:0,45:42:-131.31,-12.66,-0.04:99 -chr1 3632013 rs34178965 G C 41.74 LowQual AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;QD=13.91;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,3:2:-7.58,-0.60,-0.00:6.02 -chr1 3632108 . A G 92.54 PASS AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.46;MQ0=0;OQ=246.19;QD=30.77;SB=-85.92 GT:AD:DP:GL:GQ 1/1:0,8:8:-28.20,-2.41,-0.00:24.07 -chr1 3633787 rs2296031 A G 6.14 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=60.00;MQ0=0;OQ=452.89;QD=19.69;SB=-150.34 GT:AD:DP:GL:GQ 0/1:6,16:22:-55.20,-6.63,-22.30:99 -chr1 3634209 rs2181486 A G 1.25 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=4;HaplotypeScore=1.69;MQ=58.39;MQ0=0;OQ=887.40;QD=30.60;SB=-422.16 GT:AD:DP:GL:GQ 1/1:0,29:29:-92.36,-8.75,-0.03:87.19 -chr1 3634234 rs2146657 A G 3.11 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=2.86;MQ=58.55;MQ0=0;OQ=912.28;QD=28.51;SB=-446.82 GT:AD:DP:GL:GQ 1/1:0,32:28:-94.83,-8.44,-0.02:84.21 -chr1 3634529 rs2236367 C T 14.74 PASS AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=-0.18;MQ=58.05;MQ0=0;OQ=381.45;QD=15.89;SB=-87.90 GT:AD:DP:GL:GQ 0/1:11,13:23:-48.37,-6.94,-31.96:99 -chr1 3634665 rs2236366 A G 76.17 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.83;MQ=58.92;MQ0=0;OQ=536.64;QD=13.76;SB=-250.32 GT:AD:DP:GL:GQ 0/1:16,23:35:-67.50,-10.56,-54.78:99 -chr1 3634718 rs2236365 G C 250.46 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=58.69;MQ0=0;OQ=951.80;QD=19.04;SB=-496.24 GT:AD:DP:GL:GQ 0/1:20,30:47:-112.65,-14.19,-78.43:99 -chr1 3634912 rs12095248 A G 50.60 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=529.65;QD=10.81;SB=-225.29 GT:AD:DP:GL:GQ 0/1:29,20:49:-71.01,-14.76,-117.85:99 -chr1 3635695 rs2254530 C A 234.40 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=56.85;MQ0=0;OQ=701.30;QD=15.58;SB=-270.34 GT:AD:DP:GL:GQ 0/1:17,28:43:-86.38,-12.96,-55.17:99 -chr1 3635704 rs2096224 G A 61.81 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=56.39;MQ0=0;OQ=843.06;QD=18.33;SB=-255.19 GT:AD:DP:GL:GQ 0/1:18,27:42:-100.25,-12.66,-49.65:99 -chr1 3635997 rs11589885 C T 153.88 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.19;MQ=58.55;MQ0=0;OQ=582.90;QD=18.22;SB=-289.86 GT:AD:DP:GL:GQ 0/1:14,18:32:-71.22,-9.65,-43.73:99 -chr1 3636052 rs1885867 G A 143.16 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.49;MQ=59.44;MQ0=0;OQ=1392.32;QD=33.96;SB=-648.62 GT:AD:DP:GL:GQ 1/1:1,40:37:-142.84,-11.16,-0.02:99 -chr1 3636074 rs1885866 T C 394.04 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.48;MQ0=0;OQ=1194.73;QD=27.15;SB=-580.01 GT:AD:DP:GL:GQ 1/1:0,44:39:-123.10,-11.76,-0.04:99 -chr1 3636151 rs1885865 G A 33.35 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=2.52;MQ=59.03;MQ0=0;OQ=1851.65;QD=38.58;SB=-906.66 GT:AD:DP:GL:GQ 1/1:0,48:47:-188.76,-14.16,-0.01:99 -chr1 3637822 rs1745813 T C 55.74 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=5.13;MQ=58.97;MQ0=0;OQ=680.74;QD=15.13;SB=-289.66 GT:AD:DP:GL:GQ 0/1:18,27:43:-84.33,-12.97,-62.63:99 -chr1 3638114 rs34661835 G A 68.90 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=3.56;MQ=59.01;MQ0=0;OQ=1063.39;QD=15.19;SB=-366.89 GT:AD:DP:GL:GQ 0/1:37,33:66:-129.52,-19.90,-102.17:99 -chr1 3638739 rs4648553 G A 223.38 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.68;MQ=58.64;MQ0=0;OQ=511.89;QD=10.66;SB=-215.18 GT:AD:DP:GL:GQ 0/1:26,22:40:-66.54,-12.07,-70.14:99 -chr1 3640958 rs1181869 C T 138.76 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=782.45;QD=20.06;SB=-285.16 GT:AD:DP:GL:GQ 0/1:16,23:38:-92.98,-11.45,-54.47:99 -chr1 3640986 rs1181868 G T 357.91 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=59.51;MQ0=0;OQ=742.19;QD=14.55;SB=-306.02 GT:AD:DP:GL:GQ 0/1:23,27:47:-91.66,-14.16,-72.26:99 -chr1 3641178 rs1181867 A G 3.60 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=11.13;MQ=59.11;MQ0=0;OQ=463.08;QD=9.85;SB=-239.29 GT:AD:DP:GL:GQ 0/1:24,23:43:-62.56,-12.97,-88.46:99 -chr1 3642477 rs1047928 G C 24.63 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=59.25;MQ0=0;OQ=1110.64;QD=19.83;SB=-354.44 GT:AD:DP:GL:GQ 0/1:25,31:54:-130.64,-16.30,-94.09:99 -chr1 3642678 rs61759293 G A 143.34 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.60;MQ=59.59;MQ0=0;OQ=746.17;QD=16.22;SB=-262.29 GT:AD:DP:GL:GQ 0/1:23,23:46:-91.76,-13.86,-82.87:99 -chr1 3642682 rs9800 C G 193.80 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=59.59;MQ0=0;OQ=608.81;QD=13.23;SB=-238.07 GT:AD:DP:GL:GQ 0/1:25,21:45:-77.74,-13.57,-107.75:99 -chr1 3643272 rs1181866 A C 242.81 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.25;MQ0=0;OQ=1714.13;QD=34.28;SB=-732.08 GT:AD:DP:GL:GQ 1/1:0,50:49:-175.01,-14.76,-0.02:99 -chr1 3643286 rs1181865 T C 423.19 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=1563.43;QD=32.57;SB=-664.24 GT:AD:DP:GL:GQ 1/1:0,48:46:-159.95,-13.86,-0.02:99 -chr1 3644050 rs1181864 A G 156.69 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=57.94;MQ0=0;OQ=704.72;QD=10.36;SB=-357.09 GT:AD:DP:GL:GQ 0/1:38,30:68:-94.25,-20.50,-152.69:99 -chr1 3644355 rs41315308 C T 206.84 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.64;MQ=57.86;MQ0=0;OQ=957.61;QD=14.96;SB=-405.80 GT:AD:DP:GL:GQ 0/1:34,30:63:-118.03,-18.99,-105.73:99 -chr1 3646184 rs1181863 T C 89.60 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=57.04;MQ0=1;OQ=1725.96;QD=27.84;SB=-738.77 GT:AD:DP:GL:GQ 1/1:0,62:55:-176.23,-16.59,-0.05:99 -chr1 3647330 rs61339658 C T 216.66 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.48;MQ0=0;OQ=622.56;QD=14.15;SB=-204.90 GT:AD:DP:GL:GQ 0/1:24,20:43:-78.50,-12.96,-75.30:99 -chr1 3647619 rs12117836 G A 258.44 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=59.76;MQ0=0;OQ=3087.35;QD=39.58;SB=-1142.52 GT:AD:DP:GL:GQ 1/1:0,78:77:-312.34,-23.20,-0.02:99 -chr1 3647643 rs55704710 C T 372.37 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=1117.31;QD=14.14;SB=-441.41 GT:AD:DP:GL:GQ 0/1:44,35:79:-138.82,-23.81,-145.27:99 -chr1 3648097 rs10797409 G A 267.01 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.27;MQ0=0;OQ=783.87;QD=15.37;SB=-396.73 GT:AD:DP:GL:GQ 0/1:26,25:51:-97.04,-15.37,-93.66:99 -chr1 3648630 rs12068191 T C 36.85 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=59.42;MQ0=0;OQ=210.22;QD=6.57;SB=-113.63 GT:AD:DP:GL:GQ 0/1:20,12:30:-33.36,-9.05,-73.41:99 -chr1 3649517 rs2298222 G A 272.39 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=2.08;MQ=58.64;MQ0=0;OQ=639.47;QD=13.32;SB=-210.21 GT:AD:DP:GL:GQ 0/1:28,20:45:-80.80,-13.57,-77.92:99 -chr1 3650201 rs10910020 A G 239.62 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=60.00;MQ0=0;OQ=830.62;QD=14.32;SB=-256.96 GT:AD:DP:GL:GQ 0/1:22,36:55:-102.93,-16.58,-89.31:99 -chr1 3650655 rs61759295 C T 319.94 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=56.32;MQ0=0;OQ=1049.42;QD=17.20;SB=-513.15 GT:AD:DP:GL:GQ 0/1:29,32:58:-125.70,-17.48,-89.86:99 -chr1 3650715 . C T 1.43 PASS AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=1;HaplotypeScore=2.94;MQ=58.05;MQ0=0;OQ=1053.29;QD=21.50;SB=-546.76 GT:AD:DP:GL:GQ 0/1:18,30:49:-126.44,-17.83,-68.95:99 -chr1 3650833 rs61759296 C T 365.26 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.03;MQ0=0;OQ=780.11;QD=18.14;SB=-365.90 GT:AD:DP:GL:GQ 0/1:18,25:43:-94.25,-12.96,-66.61:99 -chr1 3650834 rs61759297 A G 444.30 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.05;MQ0=0;OQ=732.78;QD=16.65;SB=-378.33 GT:AD:DP:GL:GQ 0/1:18,26:44:-89.82,-13.26,-70.47:99 -chr1 3651042 . A G 50.56 PASS AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.01;MQ0=0;OQ=2317.73;QD=30.50;SB=-942.03 GT:AD:DP:GL:GQ 1/1:0,76:75:-235.44,-22.63,-0.08:99 -chr1 3651109 . A G 1.79 PASS AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=5.08;MQ=56.71;MQ0=0;OQ=273.27;QD=7.01;SB=-125.50 GT:AD:DP:GL:GQ 0/1:24,15:37:-41.77,-11.16,-93.00:99 -chr1 3651611 rs61759298 C T 14.44 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=6.20;MQ=59.36;MQ0=0;OQ=487.25;QD=13.53;SB=-201.22 GT:AD:DP:GL:GQ 0/1:19,17:31:-61.35,-9.34,-53.39:99 -chr1 3651666 rs61759299 G A 290.38 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=58.58;MQ0=0;OQ=537.51;QD=11.69;SB=-229.48 GT:AD:DP:GL:GQ 0/1:28,18:45:-70.60,-13.56,-93.90:99 -chr1 3652705 rs3737589 A G 232.40 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=1820.89;QD=33.11;SB=-644.31 GT:AD:DP:GL:GQ 1/1:0,55:53:-185.70,-15.97,-0.02:99 -chr1 3652806 . C A 30.45 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=2;HaplotypeScore=18.21;MQ=58.71;MQ0=0;QD=0.56;SB=77.26 GT:AD:DP:GL:GQ 0/1:38,16:41:-18.69,-12.36,-124.87:63.28 -chr1 3652917 rs3737590 A T 248.79 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.59;MQ0=0;OQ=534.27;QD=11.87;SB=-180.50 GT:AD:DP:GL:GQ 0/1:25,20:43:-69.67,-12.96,-88.74:99 -chr1 3652988 rs3737591 G A 355.22 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=743.37;QD=18.13;SB=-354.36 GT:AD:DP:GL:GQ 0/1:19,22:40:-89.67,-12.05,-59.56:99 -chr1 3653501 . C T 1.63 PASS AC=1;AF=0.50;AN=2;DP=24;Dels=0.00;HRun=1;HaplotypeScore=4.19;MQ=56.43;MQ0=0;OQ=295.19;QD=12.30;SB=-147.16 GT:AD:DP:GL:GQ 0/1:12,11:20:-38.83,-6.03,-35.51:99 -chr1 3654278 rs61759300 C T 319.11 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=59.50;MQ0=0;OQ=838.34;QD=14.71;SB=-382.16 GT:AD:DP:GL:GQ 0/1:29,28:55:-103.70,-16.58,-94.60:99 -chr1 3654412 . G A 1.87 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=1;HaplotypeScore=3.14;MQ=59.58;MQ0=0;OQ=1116.86;QD=20.31;SB=-482.46 GT:AD:DP:GL:GQ 0/1:23,32:54:-131.23,-16.26,-80.42:99 -chr1 3655727 rs12120656 G T 277.67 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=59.16;MQ0=0;OQ=2493.88;QD=34.64;SB=-1022.51 GT:AD:DP:GL:GQ 1/1:0,71:69:-252.99,-20.78,-0.02:99 -chr1 3657359 rs61759301 C A 268.48 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=1.18;MQ=59.56;MQ0=0;OQ=858.70;QD=16.20;SB=-443.00 GT:AD:DP:GL:GQ 0/1:24,29:52:-104.82,-15.66,-81.51:99 -chr1 3657864 rs4648554 T C 343.27 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=57.67;MQ0=0;OQ=2306.57;QD=35.49;SB=-875.99 GT:AD:DP:GL:GQ 1/1:0,65:64:-234.26,-19.28,-0.02:99 -chr1 3658613 rs12128253 A C 493.82 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=800.32;QD=17.40;SB=-351.83 GT:AD:DP:GL:GQ 0/1:19,27:46:-97.17,-13.85,-71.32:99 -chr1 3658641 rs12123850 G T 445.21 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1182.07;QD=31.95;SB=-471.02 GT:AD:DP:GL:GQ 1/1:0,37:33:-121.80,-9.94,-0.01:99 -chr1 3659032 rs41315312 C T 393.31 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.19;MQ0=0;OQ=747.09;QD=16.24;SB=-297.79 GT:AD:DP:GL:GQ 0/1:23,23:45:-91.55,-13.56,-71.39:99 -chr1 3659061 rs10797410 A G 617.38 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=1286.97;QD=30.64;SB=-659.94 GT:AD:DP:GL:GQ 1/1:0,42:41:-132.32,-12.36,-0.04:99 -chr1 3659065 rs10910021 C G 483.45 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.53;MQ0=0;OQ=1547.05;QD=38.68;SB=-689.48 GT:AD:DP:GL:GQ 1/1:0,40:36:-158.30,-10.85,-0.01:99 -chr1 3659480 rs10797411 T C 0.77 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=7.27;MQ=57.71;MQ0=0;OQ=1720.61;QD=33.09;SB=-601.34 GT:AD:DP:GL:GQ 1/1:0,51:50:-175.67,-15.06,-0.02:99 -chr1 3659744 . C T 75.39 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=20;HaplotypeScore=21.91;MQ=50.61;MQ0=1;QD=1.13;SB=59.16 GT:AD:DP:GL:GQ 0/1:57,10:52:-26.50,-15.68,-150.70:99 -chr1 3659750 . T C 207.45 SnpCluster AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=50.10;MQ=49.95;MQ0=1;QD=3.05;SB=-120.43 GT:AD:DP:GL:GQ 0/1:53,15:58:-41.51,-17.48,-178.17:99 -chr1 3659751 . T C 331.47 SnpCluster AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=0;HaplotypeScore=48.26;MQ=49.78;MQ0=1;QD=4.95;SB=-162.44 GT:AD:DP:GL:GQ 0/1:46,21:55:-53.00,-16.57,-149.72:99 -chr1 3660887 rs1181889 T C 275.60 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=3.83;MQ=59.11;MQ0=0;OQ=722.62;QD=13.90;SB=-328.30 GT:AD:DP:GL:GQ 0/1:24,28:49:-90.30,-14.76,-97.70:99 -chr1 3661651 rs1181888 A G 399.70 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=60.00;MQ0=0;OQ=490.27;QD=11.14;SB=-251.93 GT:AD:DP:GL:GQ 0/1:22,22:42:-64.98,-12.67,-82.79:99 -chr1 3662016 rs4648555 C A 364.79 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.57;MQ0=0;OQ=510.62;QD=9.46;SB=-259.25 GT:AD:DP:GL:GQ 0/1:34,20:53:-70.31,-15.96,-121.67:99 -chr1 3662783 rs12128087 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=13;HaplotypeScore=8.43;MQ=60.15;MQ0=0;OQ=558.18;QD=10.94;SB=-253.17 GT:AD:DP:GL:GQ 0/1:30,21:47:-73.27,-14.17,-94.61:99 -chr1 3663356 rs4648405 T G 117.92 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=59.45;MQ0=0;OQ=421.62;QD=10.04;SB=-89.84 GT:AD:DP:GL:GQ 0/1:24,18:40:-57.50,-12.05,-84.73:99 -chr1 3663862 rs1181887 T G 544.42 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=1620.49;QD=34.48;SB=-656.23 GT:AD:DP:GL:GQ 1/1:0,47:47:-165.65,-14.16,-0.01:99 -chr1 3664012 rs7542464 C T 327.04 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.16;MQ0=0;OQ=1410.26;QD=37.11;SB=-358.47 GT:AD:DP:GL:GQ 1/1:0,38:38:-144.63,-11.46,-0.02:99 -chr1 3664166 . G A 2.11 PASS AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=3;HaplotypeScore=2.17;MQ=59.59;MQ0=0;OQ=801.46;QD=17.81;SB=-414.44 GT:AD:DP:GL:GQ 0/1:20,25:43:-96.39,-12.96,-61.16:99 -chr1 3664614 rs1181886 A T 88.61 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=59.65;MQ0=0;OQ=779.71;QD=14.44;SB=-332.65 GT:AD:DP:GL:GQ 0/1:28,26:52:-96.92,-15.66,-100.50:99 -chr1 3664618 rs9424312 T A 76.30 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=946.40;QD=17.53;SB=-254.96 GT:AD:DP:GL:GQ 0/1:24,30:54:-114.19,-16.27,-85.78:99 -chr1 3664638 rs59291549 A G 339.20 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.66;MQ0=0;OQ=754.74;QD=11.44;SB=-151.30 GT:AD:DP:GL:GQ 0/1:31,35:62:-97.45,-18.69,-125.83:99 -chr1 3664862 rs6682863 G A 201.85 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=59.78;MQ0=0;OQ=631.54;QD=12.63;SB=-190.86 GT:AD:DP:GL:GQ 0/1:30,20:45:-80.00,-13.57,-81.03:99 -chr1 3665697 rs12128570 C G 270.19 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=50.42;MQ0=0;OQ=767.84;QD=13.01;SB=-344.88 GT:AD:DP:GL:GQ 0/1:34,25:56:-96.94,-16.88,-141.00:99 -chr1 3665819 rs12131045 T G 461.26 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.52;MQ0=0;OQ=642.50;QD=12.12;SB=-333.74 GT:AD:DP:GL:GQ 0/1:24,29:50:-82.60,-15.07,-87.60:99 -chr1 3665937 rs12128669 C T 521.09 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.12;MQ0=0;OQ=862.45;QD=14.37;SB=-269.15 GT:AD:DP:GL:GQ 0/1:32,28:59:-107.30,-17.77,-116.90:99 -chr1 3666427 rs1181885 C T 33.74 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=59.66;MQ0=0;OQ=1204.99;QD=21.91;SB=-603.11 GT:AD:DP:GL:GQ 0/1:19,36:52:-139.46,-15.68,-54.65:99 -chr1 3666458 rs1181884 T C 438.67 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=60.00;MQ0=0;OQ=1123.89;QD=17.56;SB=-533.09 GT:AD:DP:GL:GQ 0/1:26,38:63:-134.65,-18.98,-101.24:99 -chr1 3666632 rs12406474 T C 126.45 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=3;HaplotypeScore=1.53;MQ=58.86;MQ0=0;OQ=740.89;QD=13.00;SB=-344.59 GT:AD:DP:GL:GQ 0/1:29,28:56:-94.24,-16.87,-116.11:99 -chr1 3667793 rs1181883 T C 251.38 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.40;MQ=59.64;MQ0=0;OQ=2030.56;QD=31.73;SB=-682.90 GT:AD:DP:GL:GQ 1/1:0,64:64:-206.69,-19.29,-0.05:99 -chr1 3668081 rs1181882 G C 162.48 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=60.00;MQ0=0;OQ=1618.57;QD=31.13;SB=-715.93 GT:AD:DP:GL:GQ 1/1:0,52:43:-165.50,-13.00,-0.06:99 -chr1 3668091 rs7516756 A G 107.99 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=1.56;MQ=60.00;MQ0=0;OQ=613.13;QD=11.57;SB=-116.72 GT:AD:DP:GL:GQ 0/1:27,26:49:-79.36,-14.77,-98.00:99 -chr1 3668371 rs7516968 A G 62.28 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=60.00;MQ0=0;OQ=209.36;QD=9.10;SB=-37.93 GT:AD:DP:GL:GQ 0/1:13,10:22:-30.85,-6.63,-52.05:99 -chr1 3668596 . G A 15.65 PASS AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=57.44;MQ0=0;OQ=384.28;QD=10.98;SB=-65.05 GT:AD:DP:GL:GQ 0/1:22,13:35:-52.26,-10.55,-81.04:99 -chr1 3668758 rs1181881 A G 16.49 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=1.26;MQ=57.96;MQ0=0;OQ=916.82;QD=30.56;SB=-341.43 GT:AD:DP:GL:GQ 1/1:0,30:29:-95.29,-8.74,-0.02:87.21 -chr1 3668764 rs1181880 C T 45.57 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=58.66;MQ0=0;OQ=531.41;QD=18.98;SB=-213.73 GT:AD:DP:GL:GQ 0/1:11,17:28:-64.87,-8.45,-34.91:99 -chr1 3668999 rs1181879 T C 13.01 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=2.38;MQ=59.44;MQ0=0;OQ=1208.95;QD=29.49;SB=-449.15 GT:AD:DP:GL:GQ 1/1:0,41:38:-124.52,-11.46,-0.04:99 -chr1 3669006 rs4648556 G A 196.56 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=1.40;MQ=59.44;MQ0=0;OQ=524.36;QD=12.79;SB=-228.74 GT:AD:DP:GL:GQ 0/1:24,17:40:-67.77,-12.05,-80.81:99 -chr1 3669167 rs4648557 T C 163.44 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=1.77;MQ=60.00;MQ0=0;OQ=314.58;QD=10.15;SB=-171.98 GT:AD:DP:GL:GQ 0/1:15,16:28:-43.19,-8.45,-53.69:99 -chr1 3669321 rs4648558 A T 213.98 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=59.30;MQ0=0;OQ=430.63;QD=13.05;SB=-151.85 GT:AD:DP:GL:GQ 0/1:18,15:33:-56.29,-9.94,-66.61:99 -chr1 3669635 rs10910024 C T 223.39 PASS AC=1;AF=0.50;AN=2;DB;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=60.00;MQ0=0;OQ=261.53;QD=10.46;SB=-131.12 GT:AD:DP:GL:GQ 0/1:15,10:24:-36.67,-7.23,-47.59:99 -chr1 3669916 rs56079032 G A 49.43 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.11;MQ0=0;OQ=457.75;QD=17.61;SB=-143.18 GT:AD:DP:GL:GQ 0/1:10,16:25:-56.59,-7.54,-35.59:99 -chr1 3670503 rs1181878 G A 204.22 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.96;MQ=58.92;MQ0=0;OQ=593.13;QD=15.21;SB=-209.18 GT:AD:DP:GL:GQ 0/1:21,18:39:-74.34,-11.75,-76.92:99 -chr1 3670589 rs1181877 C T 442.14 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=59.71;MQ0=0;OQ=1051.46;QD=16.43;SB=-536.72 GT:AD:DP:GL:GQ 0/1:31,33:61:-126.81,-18.38,-107.46:99 -chr1 3670923 rs6669358 A G 271.22 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.35;MQ=59.49;MQ0=0;OQ=863.52;QD=11.83;SB=-442.10 GT:AD:DP:GL:GQ 0/1:40,33:71:-111.03,-21.40,-156.37:99 -chr1 3671541 rs1181876 A G 312.30 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.35;MQ0=0;OQ=557.92;QD=8.72;SB=-268.23 GT:AD:DP:GL:GQ 0/1:36,28:60:-77.16,-18.08,-144.69:99 -chr1 3671691 rs1181875 T C 354.44 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.69;MQ0=0;OQ=768.78;QD=12.60;SB=-310.35 GT:AD:DP:GL:GQ 0/1:32,29:59:-97.93,-17.77,-128.86:99 -chr1 3671930 rs1181874 C A 548.97 PASS AC=1;AF=0.50;AN=2;DB;DP=111;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.46;MQ0=0;OQ=1553.48;QD=14.00;SB=-588.81 GT:AD:DP:GL:GQ 0/1:58,53:110:-191.77,-33.14,-192.67:99 -chr1 3673550 rs1181873 A C 65.84 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=0.67;MQ=59.41;MQ0=0;OQ=502.42;QD=12.88;SB=-249.39 GT:AD:DP:GL:GQ 0/1:20,19:38:-64.97,-11.45,-71.58:99 -chr1 3673967 rs1181872 T A 314.39 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=59.13;MQ0=0;OQ=665.69;QD=15.48;SB=-321.70 GT:AD:DP:GL:GQ 0/1:19,24:41:-82.21,-12.35,-69.45:99 -chr1 3674181 rs1181871 A G 201.06 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=52.16;MQ0=0;OQ=271.85;QD=7.55;SB=-59.74 GT:AD:DP:GL:GQ 0/1:21,15:32:-40.11,-9.65,-77.03:99 -chr1 3674814 rs1181870 C A 305.27 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=57.69;MQ0=0;OQ=866.35;QD=12.93;SB=-280.62 GT:AD:DP:GL:GQ 0/1:36,31:65:-109.50,-19.58,-123.19:99 -chr1 3677599 rs1175552 C A 135.06 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=60.00;MQ0=0;OQ=585.48;QD=10.09;SB=-188.53 GT:AD:DP:GL:GQ 0/1:34,24:53:-77.81,-15.97,-102.27:99 -chr1 3678505 rs1175551 T C 166.68 PASS AC=1;AF=0.50;AN=2;DB;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=58.20;MQ0=0;OQ=103.01;QD=7.92;SB=-65.87 GT:AD:DP:GL:GQ 0/1:7,6:12:-17.20,-3.62,-26.14:99 -chr1 3679407 . C G 26.93 LowQual AC=1;AF=0.50;AN=2;DP=11;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=48.93;MQ0=0;QD=2.45;SB=-6.99 GT:AD:DP:GL:GQ 0/1:3,8:4:-7.19,-1.21,-8.24:59.76 -chr1 3681100 rs1184341 C T 108.25 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=3.04;MQ=59.23;MQ0=0;OQ=426.67;QD=14.22;SB=-164.69 GT:AD:DP:GL:GQ 0/1:15,15:28:-54.39,-8.44,-49.07:99 -chr1 3681124 rs2797432 A G 199.77 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=60.00;MQ0=0;OQ=396.40;QD=12.39;SB=-160.61 GT:AD:DP:GL:GQ 0/1:13,19:29:-51.67,-8.74,-51.47:99 -chr1 3681330 rs1181893 A C 235.23 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.61;MQ0=0;OQ=409.25;QD=27.28;SB=-143.01 GT:AD:DP:GL:GQ 1/1:0,15:13:-44.52,-3.92,-0.01:39.10 -chr1 3681388 rs1175550 A G 206.60 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=59.14;MQ0=0;OQ=268.33;QD=9.94;SB=-118.66 GT:AD:DP:GL:GQ 0/1:16,11:27:-38.26,-8.14,-61.45:99 -chr1 3681587 rs1175549 A C 56.97 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=1.73;MQ=59.28;MQ0=0;OQ=317.74;QD=9.93;SB=-135.67 GT:AD:DP:GL:GQ 0/1:18,14:31:-44.40,-9.34,-64.53:99 -chr1 3682892 rs1175548 A G 294.07 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=58.99;MQ0=0;OQ=521.21;QD=11.33;SB=-266.55 GT:AD:DP:GL:GQ 0/1:25,21:43:-68.36,-12.95,-93.71:99 -chr1 3683615 rs1175547 G T 106.09 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=58.25;MQ0=0;OQ=658.75;QD=16.47;SB=-219.58 GT:AD:DP:GL:GQ 0/1:18,22:39:-80.91,-11.75,-53.72:99 -chr1 3683769 rs1175546 C T 14.30 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=58.95;MQ0=0;OQ=845.89;QD=19.22;SB=-175.68 GT:AD:DP:GL:GQ 0/1:18,26:42:-100.52,-12.65,-61.88:99 -chr1 3684656 rs1891934 G A 75.40 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=0.97;MQ=59.58;MQ0=0;OQ=574.95;QD=13.07;SB=-268.25 GT:AD:DP:GL:GQ 0/1:26,18:41:-73.14,-12.36,-73.56:99 -chr1 3684836 . T G 29.95 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=2;HaplotypeScore=5.28;MQ=57.94;MQ0=0;QD=0.88;SB=50.17 GT:AD:DP:GL:GQ 0/1:20,14:25:-13.81,-7.53,-70.58:62.78 -chr1 3685860 rs2799182 T C 179.63 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=3.18;MQ=58.63;MQ0=0;OQ=681.56;QD=13.36;SB=-324.12 GT:AD:DP:GL:GQ 0/1:23,28:50:-86.51,-15.07,-94.22:99 -chr1 3686231 rs61759305 C T 280.07 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=512.50;QD=17.08;SB=-238.52 GT:AD:DP:GL:GQ 0/1:14,16:29:-63.27,-8.74,-47.74:99 -chr1 3686750 rs8379 A C 132.74 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.70;MQ0=0;OQ=512.51;QD=8.27;SB=-204.80 GT:AD:DP:GL:GQ 0/1:39,23:59:-72.31,-17.77,-139.60:99 -chr1 3687151 rs2996428 C T 323.10 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=2.20;MQ=59.68;MQ0=0;OQ=1332.10;QD=18.25;SB=-588.63 GT:AD:DP:GL:GQ 0/1:30,43:68:-156.98,-20.49,-102.01:99 -chr1 3688388 rs2799186 C G 198.40 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=60.00;MQ0=0;OQ=1120.38;QD=14.55;SB=-296.13 GT:AD:DP:GL:GQ 0/1:44,32:77:-141.06,-25.73,-190.14:99 -chr1 3688807 rs12122058 C T 132.91 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=1.81;MQ=60.00;MQ0=0;OQ=788.10;QD=15.16;SB=-353.46 GT:AD:DP:GL:GQ 0/1:27,25:50:-97.16,-15.07,-93.28:99 -chr1 3689428 rs2799185 G C 86.89 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=58.23;MQ0=0;OQ=644.64;QD=17.42;SB=-205.64 GT:AD:DP:GL:GQ 0/1:18,19:35:-78.30,-10.56,-70.47:99 -chr1 3689489 rs2799184 T G 198.26 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=4.30;MQ=56.35;MQ0=0;OQ=514.42;QD=13.19;SB=-238.40 GT:AD:DP:GL:GQ 0/1:19,20:37:-65.87,-11.14,-65.31:99 -chr1 3689844 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=16;HaplotypeScore=12.40;MQ=56.82;MQ0=0;OQ=207.53;QD=3.10;SB=47.88 GT:AD:DP:GL:GQ 0/1:50,16:53:-40.01,-15.97,-140.82:99 -chr1 3691351 rs2996426 A G 107.45 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=2.66;MQ=59.77;MQ0=0;OQ=576.97;QD=11.10;SB=-273.25 GT:AD:DP:GL:GQ 0/1:26,26:49:-75.76,-14.78,-98.82:99 -chr1 3693197 rs2368537 G C 138.15 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.55;MQ0=0;OQ=1805.49;QD=35.40;SB=-781.23 GT:AD:DP:GL:GQ 1/1:0,51:46:-184.17,-13.88,-0.03:99 -chr1 3693570 rs2253143 G A 60.94 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=3.58;MQ=58.41;MQ0=0;OQ=495.55;QD=11.26;SB=-141.61 GT:AD:DP:GL:GQ 0/1:26,18:41:-65.20,-12.37,-77.20:99 -chr1 3694312 rs12142183 T G 312.97 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=59.65;MQ0=0;OQ=615.52;QD=11.61;SB=-311.76 GT:AD:DP:GL:GQ 0/1:22,31:47:-79.00,-14.16,-79.12:99 -chr1 3694564 . G C 39.33 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=1;HaplotypeScore=6.24;MQ=58.81;MQ0=0;QD=0.72;SB=44.18 GT:AD:DP:GL:GQ 0/1:42,12:37:-18.38,-11.17,-134.23:72.16 -chr1 3701498 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=71;Dels=0.03;HRun=20;HaplotypeScore=51.30;MQ=52.45;MQ0=0;OQ=259.27;QD=3.65;SB=80.25 GT:AD:DP:GL:GQ 0/1:46,23:54:-44.89,-15.68,-134.64:99 -chr1 3708347 rs6681383 G A 128.24 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=58.34;MQ0=0;OQ=1078.39;QD=18.92;SB=-322.85 GT:AD:DP:GL:GQ 0/1:24,33:53:-127.10,-15.97,-69.66:99 -chr1 3712148 rs2996425 A T 193.61 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.11;MQ=59.02;MQ0=0;OQ=2222.50;QD=35.85;SB=-1018.88 GT:AD:DP:GL:GQ 1/1:0,62:60:-225.85,-18.07,-0.02:99 -chr1 3714307 rs61759320 G A 326.68 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=53.55;MQ0=0;OQ=770.50;QD=14.01;SB=-354.84 GT:AD:DP:GL:GQ 0/1:29,25:53:-96.31,-15.97,-95.14:99 -chr1 3714663 . A C 15.04 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=2;HaplotypeScore=8.17;MQ=57.66;MQ0=0;QD=0.38;SB=56.19 GT:AD:DP:GL:GQ 0/1:24,16:28:-13.21,-8.44,-81.36:47.74 -chr1 3727878 . C T 38.08 PASS AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=1;HaplotypeScore=2.42;MQ=59.48;MQ0=0;OQ=1399.61;QD=17.28;SB=-662.18 GT:AD:DP:GL:GQ 0/1:40,41:81:-167.65,-24.40,-140.98:99 -chr1 3731503 . A G 18.90 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=3;HaplotypeScore=1.79;MQ=54.69;MQ0=0;QD=0.73;SB=5.04 GT:AD:DP:GL:GQ 0/1:21,5:21:-11.50,-6.33,-70.25:51.68 -chr1 3735976 rs1836 A G 124.85 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=2.96;MQ=59.74;MQ0=0;OQ=2210.40;QD=31.13;SB=-963.45 GT:AD:DP:GL:GQ 1/1:0,70:69:-227.21,-23.18,-2.59:99 -chr1 3736114 rs2275830 T C 634.35 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.39;MQ0=0;OQ=2088.07;QD=30.71;SB=-734.31 GT:AD:DP:GL:GQ 1/1:0,68:67:-212.46,-20.22,-0.07:99 -chr1 3736443 rs2275828 G T 17.64 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=2;HaplotypeScore=3.28;MQ=59.05;MQ0=0;OQ=2655.56;QD=36.38;SB=-1342.28 GT:AD:DP:GL:GQ 1/1:0,73:72:-269.16,-21.68,-0.02:99 -chr1 3736449 rs2275826 C G 89.02 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.10;MQ0=0;OQ=3375.97;QD=43.84;SB=-1685.64 GT:AD:DP:GL:GQ 1/1:0,77:77:-336.60,-23.20,-0.02:99 -chr1 3737179 rs4648417 C T 55.97 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=58.05;MQ0=0;OQ=1230.92;QD=34.19;SB=-377.48 GT:AD:DP:GL:GQ 1/1:0,35:33:-126.70,-9.95,-0.02:99 -chr1 3737440 rs6424058 C T 106.25 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=3.83;MQ=56.84;MQ0=0;OQ=1463.09;QD=34.84;SB=-699.35 GT:AD:DP:GL:GQ 1/1:0,42:38:-149.91,-11.45,-0.01:99 -chr1 3737463 rs6413779 T C 36.87 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=57.40;MQ0=0;OQ=1023.14;QD=33.00;SB=-220.63 GT:AD:DP:GL:GQ 1/1:0,31:31:-105.92,-9.34,-0.02:93.25 -chr1 3737945 rs7522227 A G 230.87 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.22;MQ0=0;OQ=2674.63;QD=34.29;SB=-1340.60 GT:AD:DP:GL:GQ 1/1:0,77:76:-271.07,-22.89,-0.02:99 -chr1 3738031 rs7524765 T C 717.11 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2886.44;QD=35.20;SB=-1305.64 GT:AD:DP:GL:GQ 1/1:0,82:82:-292.25,-24.70,-0.03:99 -chr1 3738548 rs17403836 A C 593.74 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.20;MQ0=0;OQ=3340.65;QD=35.92;SB=-1448.19 GT:AD:DP:GL:GQ 1/1:0,93:93:-333.07,-28.01,-0.02:99 -chr1 3738842 rs61768911 C G 310.36 PASS AC=2;AF=1.00;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.39;MQ0=2;OQ=606.83;QD=30.34;SB=-199.55 GT:AD:DP:GL:GQ 1/1:0,19:16:-64.28,-4.83,-0.01:48.16 -chr1 3738927 . T C 23.45 LowQual AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=5.48;MQ=47.67;MQ0=1;QD=0.60;SB=-5.57 GT:AD:DP:GL:GQ 0/1:32,7:31:-14.97,-9.34,-106.27:56.26 -chr1 3738930 . T C 7.68 PASS AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=3.51;MQ=48.29;MQ0=0;OQ=738.60;QD=19.44;SB=-353.38 GT:AD:DP:GL:GQ 0/1:6,32:31:-86.49,-9.35,-16.38:70.33 -chr1 3738954 rs61768912 T C 1249.83 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.18;MQ0=0;QD=28.41;SB=-561.89 GT:AD:DP:GL:GQ 1/1:0,43:40:-128.60,-12.06,-0.04:99 -chr1 3738962 rs61768913 A G 1521.07 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=53.09;MQ0=0;QD=28.17;SB=-501.21 GT:AD:DP:GL:GQ 1/1:0,54:48:-155.73,-14.47,-0.04:99 -chr1 3738964 rs61768914 A G 1823.57 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=53.35;MQ0=0;QD=32.56;SB=-678.27 GT:AD:DP:GL:GQ 1/1:0,56:52:-185.96,-15.66,-0.02:99 -chr1 3738975 rs61768915 T C 185.63 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.64;MQ=53.83;MQ0=0;OQ=2377.40;QD=34.96;SB=-853.97 GT:AD:DP:GL:GQ 1/1:0,68:67:-241.35,-20.18,-0.03:99 -chr1 3739217 rs6684560 G A 167.13 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=55.03;MQ0=0;OQ=2027.81;QD=36.87;SB=-859.02 GT:AD:DP:GL:GQ 1/1:1,54:53:-206.39,-15.97,-0.02:99 -chr1 3739448 rs6676260 T C 481.80 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.47;MQ0=0;OQ=1276.86;QD=30.40;SB=-555.08 GT:AD:DP:GL:GQ 1/1:0,42:41:-131.31,-12.36,-0.03:99 -chr1 3739507 rs10797344 C G 65.45 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=2.02;MQ=59.28;MQ0=0;OQ=2404.57;QD=37.57;SB=-1028.99 GT:AD:DP:GL:GQ 1/1:0,64:58:-244.08,-17.49,-0.04:99 -chr1 3739508 rs10797345 G A 56.93 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=2.68;MQ=59.28;MQ0=0;OQ=2416.64;QD=37.76;SB=-1154.54 GT:AD:DP:GL:GQ 1/1:0,64:63:-245.28,-18.99,-0.03:99 -chr1 3739554 rs6673716 A G 130.37 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.53;MQ0=0;OQ=1461.81;QD=29.83;SB=-615.96 GT:AD:DP:GL:GQ 1/1:0,49:46:-149.80,-13.87,-0.04:99 -chr1 3739633 rs6673807 A G 581.92 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.88;MQ0=0;OQ=2050.62;QD=35.36;SB=-778.99 GT:AD:DP:GL:GQ 1/1:0,58:58:-208.67,-17.47,-0.02:99 -chr1 3740027 rs2368533 G A 618.30 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.44;MQ0=0;OQ=2881.32;QD=38.94;SB=-1374.05 GT:AD:DP:GL:GQ 1/1:0,74:73:-291.74,-21.99,-0.02:99 -chr1 3740589 rs6677381 A G 634.61 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.52;MQ0=0;OQ=2780.11;QD=35.64;SB=-1088.76 GT:AD:DP:GL:GQ 1/1:0,78:77:-281.62,-23.19,-0.02:99 -chr1 3740591 rs6680017 T G 509.75 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.52;MQ0=0;OQ=2637.83;QD=34.26;SB=-1082.49 GT:AD:DP:GL:GQ 1/1:0,77:75:-267.39,-22.59,-0.02:99 -chr1 3740758 . T A 7.56 PASS AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=55.28;MQ0=1;OQ=174.11;QD=4.71;SB=-20.31 GT:AD:DP:GL:GQ 0/1:28,9:34:-30.93,-10.24,-98.40:99 -chr1 3741138 rs2887273 C G 484.06 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2855.33;QD=43.26;SB=-1170.05 GT:AD:DP:GL:GQ 1/1:0,66:66:-289.13,-19.88,-0.02:99 -chr1 3741826 rs4648419 C G 552.08 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.30;MQ0=0;OQ=3843.78;QD=42.24;SB=-1290.87 GT:AD:DP:GL:GQ 1/1:0,91:88:-383.38,-26.52,-0.03:99 -chr1 3742892 . G T 16.29 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=20;HaplotypeScore=18.89;MQ=55.03;MQ0=1;QD=0.28;SB=44.02 GT:AD:DP:GL:GQ 0/1:50,6:41:-19.70,-14.80,-98.51:49.02 -chr1 3742917 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=52;Dels=0.02;HRun=20;HaplotypeScore=34.21;MQ=57.45;MQ0=0;OQ=170.67;QD=3.28;SB=56.18 GT:AD:DP:GL:GQ 0/1:37,14:43:-33.01,-12.65,-114.45:99 -chr1 3742996 rs2275824 A T 710.47 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.86;MQ0=0;OQ=2009.53;QD=35.25;SB=-882.57 GT:AD:DP:GL:GQ 1/1:0,57:56:-204.56,-16.87,-0.02:99 -chr1 3744349 rs12409082 G C 531.14 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3059.06;QD=43.09;SB=-1422.83 GT:AD:DP:GL:GQ 1/1:0,71:71:-309.52,-21.40,-0.02:99 -chr1 3744456 rs6683827 G T 2.38 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=3;HaplotypeScore=4.28;MQ=58.86;MQ0=0;OQ=2501.40;QD=35.73;SB=-1071.46 GT:AD:DP:GL:GQ 1/1:0,70:69:-253.75,-20.78,-0.02:99 -chr1 3745535 rs1891941 T C 731.33 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2479.06;QD=35.42;SB=-1217.69 GT:AD:DP:GL:GQ 1/1:0,70:69:-251.51,-20.78,-0.02:99 -chr1 3745729 rs1891940 T C 456.28 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.01;MQ0=0;OQ=1634.49;QD=34.78;SB=-697.28 GT:AD:DP:GL:GQ 1/1:0,47:46:-167.05,-13.85,-0.01:99 -chr1 3745735 rs1891939 T G 249.79 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.99;MQ0=0;OQ=1553.73;QD=33.78;SB=-800.51 GT:AD:DP:GL:GQ 1/1:0,46:45:-158.97,-13.55,-0.02:99 -chr1 3745980 rs1539649 A G 625.14 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.71;MQ0=0;OQ=2553.81;QD=30.77;SB=-1180.11 GT:AD:DP:GL:GQ 1/1:0,83:80:-259.03,-24.12,-0.06:99 -chr1 3746353 rs7535887 T C 654.18 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1854.47;QD=30.91;SB=-854.01 GT:AD:DP:GL:GQ 1/1:0,60:59:-189.08,-17.79,-0.05:99 -chr1 3746392 rs10797346 T C 305.08 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2579.74;QD=35.83;SB=-1200.15 GT:AD:DP:GL:GQ 1/1:0,72:72:-261.58,-21.69,-0.02:99 -chr1 3747160 rs10909800 C T 207.27 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2281.73;QD=39.34;SB=-904.67 GT:AD:DP:GL:GQ 1/1:0,58:58:-231.78,-17.47,-0.02:99 -chr1 3748578 rs4381131 T C 118.61 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=57.58;MQ0=0;OQ=1302.81;QD=35.21;SB=-612.36 GT:AD:DP:GL:GQ 1/1:0,37:37:-133.88,-11.14,-0.01:99 -chr1 3748616 rs4411084 A G 124.66 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.91;MQ=57.27;MQ0=0;OQ=1453.01;QD=29.06;SB=-634.87 GT:AD:DP:GL:GQ 1/1:0,50:46:-148.93,-13.88,-0.04:99 -chr1 3749212 rs3765774 T A 197.18 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.09;MQ0=0;OQ=2826.29;QD=36.71;SB=-1358.75 GT:AD:DP:GL:GQ 1/1:0,77:76:-286.23,-22.89,-0.02:99 -chr1 3749644 rs10797347 A G 265.86 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=59.07;MQ0=0;OQ=1626.88;QD=34.61;SB=-812.67 GT:AD:DP:GL:GQ 1/1:0,47:46:-166.29,-13.86,-0.01:99 -chr1 3749797 rs10909801 A G 1.04 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=13.74;MQ=53.38;MQ0=0;OQ=1309.63;QD=23.81;SB=-631.48 GT:AD:DP:GL:GQ 1/1:0,53:41:-134.59,-12.37,-0.04:99 -chr1 3749921 rs6701360 G A 575.83 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.91;MQ0=0;OQ=2426.40;QD=38.51;SB=-904.68 GT:AD:DP:GL:GQ 1/1:0,63:63:-246.25,-18.99,-0.03:99 -chr1 3749974 rs6690371 A G 48.27 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=1.93;MQ=58.34;MQ0=0;OQ=1681.22;QD=35.03;SB=-728.27 GT:AD:DP:GL:GQ 1/1:0,48:48:-171.73,-14.47,-0.03:99 -chr1 3749989 rs6678020 C T 441.08 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.59;MQ0=0;OQ=1518.29;QD=37.96;SB=-571.34 GT:AD:DP:GL:GQ 1/1:0,40:39:-155.43,-11.75,-0.01:99 -chr1 3750090 rs6680552 C T 728 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.60;MQ0=1;OQ=1998.34;QD=35.06;SB=-998.84 GT:AD:DP:GL:GQ 1/1:0,57:51:-203.43,-15.36,-0.01:99 -chr1 3750216 rs6695657 T C 130.02 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.67;MQ0=0;OQ=1753.47;QD=29.72;SB=-613.96 GT:AD:DP:GL:GQ 1/1:0,59:56:-178.99,-16.89,-0.06:99 -chr1 3750378 rs10752723 A G 15.88 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=1.50;MQ=56.80;MQ0=0;OQ=1482.59;QD=32.95;SB=-488.54 GT:AD:DP:GL:GQ 1/1:1,43:41:-151.86,-12.35,-0.01:99 -chr1 3751141 rs6698930 T A 637.91 DPFilter;Indel AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=7;HaplotypeScore=46.26;MQ=41.75;MQ0=0;QD=7.78;SB=8.51 GT:AD:DP:GL:GQ 0/1:49,33:69:-87.87,-20.79,-167.40:99 -chr1 3751339 rs2275822 C T 226.46 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.23;MQ0=0;OQ=2373.96;QD=39.57;SB=-964.37 GT:AD:DP:GL:GQ 1/1:0,60:60:-241.00,-18.08,-0.02:99 -chr1 3751510 rs2275821 A G 573.45 PASS AC=2;AF=1.00;AN=2;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.31;MQ0=0;OQ=3500.46;QD=35.36;SB=-1716.03 GT:AD:DP:GL:GQ 1/1:0,99:96:-349.05,-28.91,-0.03:99 -chr1 3751936 rs6699784 T C 22.54 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=1634.61;QD=34.05;SB=-680.60 GT:AD:DP:GL:GQ 1/1:0,48:47:-167.07,-14.16,-0.02:99 -chr1 3751940 rs6699785 T C 457.63 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1716.61;QD=35.76;SB=-707.61 GT:AD:DP:GL:GQ 1/1:0,48:48:-175.26,-14.46,-0.02:99 -chr1 3752276 rs6687498 C A 0.86 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=7.86;MQ=58.29;MQ0=1;OQ=1565.75;QD=34.79;SB=-714.95 GT:AD:DP:GL:GQ 1/1:1,44:44:-160.17,-13.25,-0.01:99 -chr1 3752464 rs4494088 C T 130.82 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=59.01;MQ0=0;OQ=2585.87;QD=39.18;SB=-1275.71 GT:AD:DP:GL:GQ 1/1:0,66:65:-262.19,-19.58,-0.02:99 -chr1 3752510 . C A 11.64 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=20;HaplotypeScore=16.03;MQ=54.71;MQ0=1;QD=0.16;SB=98.34 GT:AD:DP:GL:GQ 0/1:63,8:53:-20.38,-15.96,-171.47:44.17 -chr1 3752581 rs4534323 A T 713.95 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=2157.31;QD=36.56;SB=-930.57 GT:AD:DP:GL:GQ 1/1:0,59:59:-219.34,-17.77,-0.02:99 -chr1 3753724 rs12047360 G A 108.34 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=59.36;MQ0=0;OQ=1255.98;QD=34.89;SB=-564.33 GT:AD:DP:GL:GQ 1/1:0,36:33:-129.19,-9.94,-0.01:99 -chr1 3754321 rs34401151 C T 220.62 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.55;MQ0=0;OQ=2357.19;QD=36.83;SB=-1184.12 GT:AD:DP:GL:GQ 1/1:0,63:62:-242.18,-21.42,-2.88:99 -chr1 3754471 rs55873991 T C 460.04 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.25;MQ0=0;OQ=2216.85;QD=34.64;SB=-478.52 GT:AD:DP:GL:GQ 1/1:0,64:60:-225.28,-18.07,-0.01:99 -chr1 3755409 rs4648346 G A 377.30 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=56.94;MQ0=0;OQ=2718.34;QD=38.83;SB=-1289.71 GT:AD:DP:GL:GQ 1/1:0,70:68:-275.43,-20.48,-0.02:99 -chr1 3755538 rs4648423 C T 3.24 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=5.11;MQ=59.49;MQ0=0;OQ=1662.33;QD=36.94;SB=-681.30 GT:AD:DP:GL:GQ 1/1:0,44:44:-169.84,-13.26,-0.02:99 -chr1 3755615 rs4648347 T C 415.08 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=60.19;MQ0=0;OQ=2002.26;QD=34.52;SB=-940.97 GT:AD:DP:GL:GQ 1/1:0,58:56:-203.83,-16.87,-0.02:99 -chr1 3755919 rs12097923 G T 175.21 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=59.51;MQ0=0;OQ=2007.64;QD=34.03;SB=-971.58 GT:AD:DP:GL:GQ 1/1:0,58:57:-204.37,-17.17,-0.02:99 -chr1 3756146 rs17404435 G T 642.91 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.27;MQ0=0;OQ=1775.93;QD=34.82;SB=-654.09 GT:AD:DP:GL:GQ 1/1:0,51:50:-181.19,-15.06,-0.02:99 -chr1 3756301 rs6683156 C T 153.50 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=59.62;MQ0=0;OQ=3593.95;QD=38.64;SB=-1767.70 GT:AD:DP:GL:GQ 1/1:0,92:90:-358.39,-27.12,-0.03:99 -chr1 3757458 rs3765779 A G 312.92 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=1547.17;QD=29.19;SB=-677.55 GT:AD:DP:GL:GQ 1/1:0,53:50:-158.35,-15.08,-0.05:99 -chr1 3757556 rs3765780 C T 73.74 PASS AC=2;AF=1.00;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=60.00;MQ0=0;OQ=1220.87;QD=37.00;SB=-540.71 GT:AD:DP:GL:GQ 1/1:0,33:32:-125.68,-9.64,-0.01:96.30 -chr1 3758579 rs1539647 T C 5.15 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=2;HaplotypeScore=3.94;MQ=58.65;MQ0=1;OQ=2215.43;QD=29.94;SB=-922.78 GT:AD:DP:GL:GQ 1/1:1,73:71:-228.15,-21.41,-3.03:99 -chr1 3758589 rs1539648 T C 162.50 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=59.09;MQ0=0;OQ=2319.86;QD=30.52;SB=-925.48 GT:AD:DP:GL:GQ 1/1:0,76:73:-235.63,-22.01,-0.06:99 -chr1 3759091 rs6657021 A G 451.01 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.04;MQ0=0;OQ=2173.33;QD=30.19;SB=-1093.08 GT:AD:DP:GL:GQ 1/1:0,72:68:-220.98,-20.51,-0.06:99 -chr1 3759136 rs6668213 G C 44.87 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=58.72;MQ0=0;OQ=2874.30;QD=41.66;SB=-1253.95 GT:AD:DP:GL:GQ 1/1:0,69:66:-291.04,-19.89,-0.02:99 -chr1 3759146 rs6693152 C T 203.33 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.07;MQ0=0;OQ=2711.10;QD=38.73;SB=-1194.58 GT:AD:DP:GL:GQ 1/1:0,70:68:-274.71,-20.49,-0.02:99 -chr1 3759189 rs6657132 A G 408.69 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.24;MQ0=0;OQ=1707.03;QD=31.04;SB=-847.00 GT:AD:DP:GL:GQ 1/1:0,55:50:-174.32,-15.07,-0.03:99 -chr1 3759225 rs6668306 G C 258.29 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=59.53;MQ0=0;OQ=1917.17;QD=39.13;SB=-849.44 GT:AD:DP:GL:GQ 1/1:0,49:46:-195.32,-13.87,-0.02:99 -chr1 3759237 rs6693259 C T 255.19 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1813.57;QD=38.59;SB=-875.61 GT:AD:DP:GL:GQ 1/1:0,47:47:-184.96,-14.17,-0.02:99 -chr1 3759339 . T C 4.24 PASS AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=37.66;MQ0=0;OQ=1291.89;QD=29.36;SB=-665.80 GT:AD:DP:GL:GQ 1/1:0,44:41:-132.82,-12.37,-0.04:99 -chr1 3759424 rs11576718 T C 18.88 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=59.78;MQ0=0;OQ=1915.98;QD=34.84;SB=-646.27 GT:AD:DP:GL:GQ 1/1:0,55:53:-195.20,-15.96,-0.02:99 -chr1 3759450 rs11578021 G C 393.67 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.61;MQ0=0;OQ=2482.73;QD=42.08;SB=-1009.18 GT:AD:DP:GL:GQ 1/1:0,59:57:-251.88,-17.18,-0.02:99 -chr1 3760255 rs4130539 C A 200.10 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.57;MQ=59.43;MQ0=0;OQ=2921.40;QD=36.07;SB=-1317.55 GT:AD:DP:GL:GQ 1/1:0,81:81:-295.75,-24.40,-0.03:99 -chr1 3760285 rs4233023 G A 128.17 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.42;MQ0=0;OQ=2979.99;QD=37.25;SB=-1007.64 GT:AD:DP:GL:GQ 1/1:0,80:76:-301.61,-22.90,-0.03:99 -chr1 3760596 rs4582731 T C 194.06 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.58;MQ0=0;OQ=1740.97;QD=31.65;SB=-868.36 GT:AD:DP:GL:GQ 1/1:0,55:54:-177.73,-16.29,-0.05:99 -chr1 3760968 rs12023761 T C 207.14 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=57.12;MQ0=0;OQ=2651.31;QD=33.99;SB=-1110.83 GT:AD:DP:GL:GQ 1/1:0,78:75:-268.74,-22.59,-0.02:99 -chr1 3760980 rs12023762 T C 71.74 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=2.08;MQ=56.93;MQ0=0;OQ=2310.56;QD=34.49;SB=-1074.87 GT:AD:DP:GL:GQ 1/1:0,66:64:-234.66,-19.27,-0.02:99 -chr1 3761023 rs12026284 G A 45.52 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=57.92;MQ0=0;OQ=1613.24;QD=38.41;SB=-773.05 GT:AD:DP:GL:GQ 1/1:0,42:41:-164.92,-12.35,-0.01:99 -chr1 3761229 rs12024538 T C 108.72 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=1.20;MQ=57.43;MQ0=0;OQ=2622.46;QD=34.06;SB=-1093.09 GT:AD:DP:GL:GQ 1/1:0,77:74:-265.86,-22.29,-0.03:99 -chr1 3761407 rs7552678 C T 182.01 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.23;MQ=55.63;MQ0=0;OQ=2322.80;QD=37.46;SB=-1101.95 GT:AD:DP:GL:GQ 1/1:0,61:58:-235.88,-17.47,-0.01:99 -chr1 3761583 rs10909805 A T 36.48 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=57.39;MQ0=0;OQ=1183.25;QD=32.87;SB=-378.79 GT:AD:DP:GL:GQ 1/1:0,36:34:-121.93,-10.24,-0.02:99 -chr1 3762135 rs4648348 G T 313.87 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.61;MQ0=0;OQ=2805.56;QD=36.44;SB=-1091.90 GT:AD:DP:GL:GQ 1/1:0,77:77:-284.17,-23.19,-0.03:99 -chr1 3762966 rs6424059 C T 50.97 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1794.59;QD=39.88;SB=-207.77 GT:AD:DP:GL:GQ 1/1:0,45:45:-183.06,-13.56,-0.01:99 -chr1 3763112 rs6424060 C A 1.11 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=57.94;MQ0=0;OQ=1225.37;QD=36.04;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,34:33:-126.13,-9.94,-0.01:99 -chr1 3763448 rs7542369 C G 0.46 PASS AC=2;AF=1.00;AN=2;DB;DP=15;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=407.00;QD=27.13;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,15:12:-44.31,-3.64,-0.03:36.11 -chr1 3763578 rs4648428 A G 5.56 PASS AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=60.00;MQ0=0;OQ=286.53;QD=20.47;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,13:11:-32.26,-3.33,-0.02:33.05 -chr1 3764486 rs10909806 C A 23.23 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=2.13;MQ=58.37;MQ0=0;OQ=1559.40;QD=35.44;SB=-546.78 GT:AD:DP:GL:GQ 1/1:0,44:43:-159.54,-12.95,-0.01:99 -chr1 3765314 rs4376673 C G 417.23 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1404.99;QD=36.03;SB=-615.54 GT:AD:DP:GL:GQ 1/1:0,39:36:-144.12,-10.87,-0.03:99 -chr1 3765882 rs9786959 A G 29.68 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=59.70;MQ0=0;OQ=1920.48;QD=30.48;SB=-862.57 GT:AD:DP:GL:GQ 1/1:0,63:60:-195.68,-18.09,-0.05:99 -chr1 3767471 rs11800725 A G 13.03 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=58.98;MQ0=0;OQ=1927.36;QD=30.11;SB=-765.33 GT:AD:DP:GL:GQ 1/1:0,64:61:-196.39,-18.41,-0.06:99 -chr1 3767577 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=17;HaplotypeScore=9.33;MQ=55.19;MQ0=0;OQ=73.00;QD=1.66;SB=10.79 GT:AD:DP:GL:GQ 0/1:33,10:33:-20.53,-9.94,-95.54:99 -chr1 3767595 . G A 13.29 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=17;HaplotypeScore=14.08;MQ=55.46;MQ0=0;QD=0.23;SB=74.24 GT:AD:DP:GL:GQ 0/1:47,10:46:-18.45,-13.86,-142.27:45.92 -chr1 3769011 rs4400555 C T 258.35 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=59.08;MQ0=0;OQ=2381.95;QD=39.05;SB=-1005.83 GT:AD:DP:GL:GQ 1/1:0,61:61:-241.80,-18.38,-0.02:99 -chr1 3769497 rs4573474 G C 208.99 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=55.06;MQ0=0;OQ=1909.70;QD=37.45;SB=-679.47 GT:AD:DP:GL:GQ 1/1:0,51:49:-194.60,-14.79,-0.05:99 -chr1 3769504 rs4475689 T C 437.54 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.81;MQ0=0;OQ=1544.26;QD=28.60;SB=-549.88 GT:AD:DP:GL:GQ 1/1:0,54:50:-158.07,-15.09,-0.05:99 -chr1 3769540 rs4393098 C T 134.88 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.73;MQ0=0;OQ=2714.04;QD=39.33;SB=-879.18 GT:AD:DP:GL:GQ 1/1:0,69:68:-275.01,-20.48,-0.02:99 -chr1 3770416 rs10909807 A G 70.24 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.33;MQ=59.66;MQ0=0;OQ=2327.40;QD=34.23;SB=-632.25 GT:AD:DP:GL:GQ 1/1:0,68:65:-236.35,-19.58,-0.03:99 -chr1 3770956 rs10797348 C A 725.50 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2194.69;QD=35.40;SB=-970.66 GT:AD:DP:GL:GQ 1/1:0,62:61:-223.07,-18.37,-0.02:99 -chr1 3770996 rs10752724 C G 36.73 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=59.68;MQ0=0;OQ=3059.04;QD=41.90;SB=-884.77 GT:AD:DP:GL:GQ 1/1:0,73:70:-309.51,-21.10,-0.03:99 -chr1 3772468 rs10909809 C T 66.95 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.41;MQ=58.92;MQ0=0;OQ=1387.22;QD=35.57;SB=-471.11 GT:AD:DP:GL:GQ 1/1:0,38:37:-142.33,-11.16,-0.02:99 -chr1 3773138 rs10909810 A C 280.94 PASS AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.04;MQ0=0;OQ=955.91;QD=32.96;SB=-323.98 GT:AD:DP:GL:GQ 1/1:0,29:29:-99.19,-8.74,-0.02:87.21 -chr1 3773433 rs10797349 C T 164.73 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=58.68;MQ0=0;OQ=1490.84;QD=33.88;SB=-752.63 GT:AD:DP:GL:GQ 1/1:0,44:39:-152.69,-11.75,-0.02:99 -chr1 3773480 rs10797350 T C 13.89 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=2.15;MQ=58.30;MQ0=0;OQ=1471.72;QD=30.66;SB=-684.88 GT:AD:DP:GL:GQ 1/1:0,48:45:-150.79,-13.57,-0.03:99 -chr1 3773523 rs10752726 T G 347.66 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.49;MQ0=0;OQ=1497.10;QD=33.27;SB=-446.81 GT:AD:DP:GL:GQ 1/1:0,45:43:-153.31,-12.95,-0.01:99 -chr1 3773611 rs12035912 C T 197.79 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=58.30;MQ0=0;OQ=2493.51;QD=37.78;SB=-1130.03 GT:AD:DP:GL:GQ 1/1:0,66:64:-252.96,-19.28,-0.02:99 -chr1 3775032 . T C 552.80 SnpCluster AC=1;AF=0.50;AN=2;DP=88;Dels=0.00;HRun=0;HaplotypeScore=33.42;MQ=46.78;MQ0=0;QD=6.28;SB=-111.60 GT:AD:DP:GL:GQ 0/1:60,28:83:-83.58,-25.02,-222.80:99 -chr1 3775037 . G T 197.57 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=99;Dels=0.00;HRun=0;HaplotypeScore=30.55;MQ=47.65;MQ0=0;QD=2.00;SB=65.19 GT:AD:DP:GL:GQ 0/1:82,15:90:-57.60,-34.56,-265.76:99 -chr1 3775038 rs11801559 A G 304.07 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=99;Dels=0.00;HRun=1;HaplotypeScore=31.22;MQ=47.58;MQ0=0;QD=3.07;SB=-149.93 GT:AD:DP:GL:GQ 0/1:75,24:82:-58.40,-24.71,-264.98:99 -chr1 3775067 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=168;Dels=0.00;HRun=0;HaplotypeScore=55.99;MQ=43.63;MQ0=2;OQ=741.54;QD=4.41;SB=-115.85 GT:AD:DP:GL:GQ 0/1:87,38:131:-206.86,-129.42,-352.70:99 -chr1 3775068 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=171;Dels=0.00;HRun=2;HaplotypeScore=57.14;MQ=43.69;MQ0=2;OQ=621.12;QD=3.63;SB=-22.34 GT:AD:DP:GL:GQ 0/1:130,41:133:-105.49,-40.09,-359.21:99 -chr1 3775097 . C T 202.73 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=156;Dels=0.02;HRun=0;HaplotypeScore=180.15;MQ=42.01;MQ0=2;QD=1.30;SB=-48.46 GT:AD:DP:GL:GQ 0/1:127,21:125:-62.81,-39.25,-356.59:99 -chr1 3775132 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=96;Dels=0.00;HRun=0;HaplotypeScore=17.94;MQ=41.24;MQ0=3;OQ=65.49;QD=0.68;SB=-47.12 GT:AD:DP:GL:GQ 0/1:77,9:78:-49.90,-40.06,-295.84:98.32 -chr1 3779522 rs11581471 A G 100.85 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=56.41;MQ0=0;OQ=1287.54;QD=29.26;SB=-667.82 GT:AD:DP:GL:GQ 1/1:0,44:42:-132.38,-12.67,-0.05:99 -chr1 3779990 rs12130391 G A 164 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.47;MQ0=0;OQ=2160.23;QD=35.41;SB=-916.74 GT:AD:DP:GL:GQ 1/1:0,60:57:-219.63,-17.18,-0.03:99 -chr1 3780767 . T C 4.63 PASS AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.82;MQ=30.96;MQ0=11;OQ=368.82;QD=6.36;SB=-104.61 GT:AD:DP:GL:GQ 0/1:34,24:38:-51.63,-11.46,-83.55:99 -chr1 3781074 rs10752727 C T 2.58 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=7.70;MQ=37.12;MQ0=12;OQ=1286.15;QD=21.08;SB=-457.95 GT:AD:DP:GL:GQ 1/1:3,58:36:-135.18,-10.85,-2.98:78.66 -chr1 3783772 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=19;HaplotypeScore=32.14;MQ=55.75;MQ0=0;OQ=200.26;QD=4.01;SB=53.19 GT:AD:DP:GL:GQ 0/1:32,18:38:-34.76,-11.45,-99.41:99 -chr1 3784133 rs12132240 C T 668.84 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.52;MQ0=0;OQ=2396.10;QD=39.93;SB=-998.03 GT:AD:DP:GL:GQ 1/1:0,60:60:-243.21,-18.07,-0.02:99 -chr1 3785251 rs10737189 T C 42.26 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=4.18;MQ=59.45;MQ0=0;OQ=2617.88;QD=31.17;SB=-945.37 GT:AD:DP:GL:GQ 1/1:0,84:80:-265.43,-24.12,-0.06:99 -chr1 3786402 rs12071660 G A 151.32 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=2743.00;QD=38.63;SB=-1108.49 GT:AD:DP:GL:GQ 1/1:0,71:69:-277.90,-20.79,-0.02:99 -chr1 3787079 rs4074710 T C 1.91 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=9.84;MQ=58.78;MQ0=0;OQ=1684.95;QD=27.18;SB=-797.66 GT:AD:DP:GL:GQ 1/1:2,60:56:-176.09,-16.89,-4.01:99 -chr1 3787169 rs61768959 C T 435.29 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=1824.58;QD=38.82;SB=-789.07 GT:AD:DP:GL:GQ 1/1:0,47:46:-186.05,-13.86,-0.01:99 -chr1 3787855 rs4073324 C T 458.35 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.50;MQ0=0;OQ=1383.49;QD=37.39;SB=-414.06 GT:AD:DP:GL:GQ 1/1:0,37:37:-141.95,-11.15,-0.02:99 -chr1 3787909 rs4073323 A G 2.22 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=3.99;MQ=59.35;MQ0=0;OQ=1345.64;QD=32.04;SB=-424.45 GT:AD:DP:GL:GQ 1/1:0,42:40:-138.17,-12.05,-0.02:99 -chr1 3788260 rs12084944 C T 298.99 PASS AC=2;AF=1.00;AN=2;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.49;MQ0=0;OQ=888.25;QD=37.01;SB=-436.08 GT:AD:DP:GL:GQ 1/1:0,24:23:-92.42,-6.93,-0.01:69.22 -chr1 3788534 rs12030906 T C 0.68 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.02;HRun=0;HaplotypeScore=9.00;MQ=56.58;MQ0=0;OQ=1607.45;QD=29.23;SB=-436.47 GT:AD:DP:GL:GQ 1/1:0,54:48:-164.35,-14.16,-0.02:99 -chr1 3789424 rs4382652 G A 2153.41 Indel AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=4.66;MQ=56.10;MQ0=0;QD=35.30;SB=-1010.66 GT:AD:DP:GL:GQ 1/1:0,61:57:-218.95,-17.18,-0.03:99 -chr1 3790102 rs3205087 A G 382.60 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.28;MQ0=0;OQ=1027.83;QD=26.35;SB=-300.09 GT:AD:DP:GL:GQ 1/1:0,39:35:-106.42,-10.57,-0.05:99 -chr1 3790340 rs7555538 G T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=8;HaplotypeScore=0.92;MQ=59.43;MQ0=0;OQ=2444.86;QD=33.49;SB=-1058.90 GT:AD:DP:GL:GQ 1/1:0,73:70:-248.10,-21.09,-0.03:99 -chr1 3791107 rs10909817 T G 151.89 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=2.65;MQ=57.75;MQ0=0;OQ=1681.31;QD=32.33;SB=-830.07 GT:AD:DP:GL:GQ 1/1:0,51:49:-171.73,-14.76,-0.02:99 -chr1 3792631 rs11584721 G C 5.17 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=5.57;MQ=57.48;MQ0=0;OQ=2243.27;QD=40.06;SB=-1057.19 GT:AD:DP:GL:GQ 1/1:1,55:53:-227.93,-15.97,-0.02:99 -chr1 3793561 rs12136187 C A 227.66 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=57.95;MQ0=0;OQ=1328.46;QD=34.06;SB=-683.01 GT:AD:DP:GL:GQ 1/1:0,39:37:-136.44,-11.15,-0.01:99 -chr1 3793615 rs7367066 T C 611.54 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.19;MQ0=0;OQ=1618.23;QD=29.97;SB=-707.63 GT:AD:DP:GL:GQ 1/1:0,53:51:-165.45,-15.38,-0.04:99 -chr1 3795300 rs6678851 C T 1.35 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=5.47;MQ=59.65;MQ0=0;OQ=2468.27;QD=37.97;SB=-809.33 GT:AD:DP:GL:GQ 1/1:0,65:63:-250.43,-18.98,-0.02:99 -chr1 3795934 rs4075974 G A 558.47 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=52.49;MQ0=0;OQ=2140.67;QD=39.64;SB=-940.34 GT:AD:DP:GL:GQ 1/1:0,54:54:-217.66,-16.27,-0.01:99 -chr1 3796218 rs10909819 T C 98.14 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=58.14;MQ0=0;OQ=2198.60;QD=32.33;SB=-948.97 GT:AD:DP:GL:GQ 1/1:0,68:64:-223.47,-19.28,-0.03:99 -chr1 3796503 rs4520357 T A 245.19 PASS AC=2;AF=1.00;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=58.09;MQ0=0;OQ=3186.37;QD=35.40;SB=-1505.31 GT:AD:DP:GL:GQ 1/1:0,90:85:-322.25,-25.60,-0.02:99 -chr1 3797453 rs4274008 G C 114.81 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=1.18;MQ=59.65;MQ0=0;OQ=2739.80;QD=42.15;SB=-1186.93 GT:AD:DP:GL:GQ 1/1:0,65:64:-277.59,-19.29,-0.02:99 -chr1 3798031 rs6701422 T C 38.91 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=4.04;MQ=51.74;MQ0=0;OQ=1832.37;QD=30.04;SB=-733.76 GT:AD:DP:GL:GQ 1/1:0,60:57:-186.87,-17.19,-0.05:99 -chr1 3798222 rs4446914 G A 207.99 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.90;MQ=50.14;MQ0=0;OQ=2015.61;QD=38.03;SB=-988.99 GT:AD:DP:GL:GQ 1/1:0,53:52:-205.17,-15.67,-0.02:99 -chr1 3798375 . A G 51.46 PASS AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=16.12;MQ0=4;OQ=176.38;QD=13.57;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,13:6:-21.21,-1.81,-0.00:18.05 -chr1 3798911 rs12757258 A C 37.05 LowQual AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=30.57;MQ0=1;QD=7.41;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,3:2:-7.11,-0.60,-0.00:6.02 -chr1 3798957 rs12757292 A C 18.79 PASS AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=23.60;MQ0=1;OQ=75.37;QD=3.14;SB=-10.00 GT:AD:DP:GL:GQ 0/1:11,13:13:-14.74,-3.92,-26.95:99 -chr1 3799283 rs11807227 G A 605.39 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.57;MQ0=0;OQ=2371.97;QD=38.88;SB=-744.48 GT:AD:DP:GL:GQ 1/1:0,61:60:-240.80,-18.08,-0.02:99 -chr1 3800246 rs4568776 A G 199.91 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=2257.59;QD=31.80;SB=-934.52 GT:AD:DP:GL:GQ 1/1:0,71:68:-229.39,-20.50,-0.04:99 -chr1 3801063 rs7515869 A T 278.49 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=61.08;MQ0=0;OQ=1948.49;QD=33.03;SB=-981.77 GT:AD:DP:GL:GQ 1/1:0,57:54:-198.46,-16.27,-0.03:99 -chr1 3801228 rs6674160 G A 506.45 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.72;MQ0=0;OQ=1203.93;QD=37.62;SB=-496.15 GT:AD:DP:GL:GQ 1/1:0,32:32:-124.00,-9.65,-0.02:96.29 -chr1 3801965 rs10909822 A C 705.90 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=23;Dels=0.00;HRun=2;HaplotypeScore=0.89;MQ=42.43;MQ0=0;QD=30.69;SB=-332.99 GT:AD:DP:GL:GQ 1/1:1,22:22:-74.19,-6.63,-0.02:66.14 -chr1 3801968 . T A 440.70 SnpCluster AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=38.89;MQ0=0;QD=11.60;SB=-170.81 GT:AD:DP:GL:GQ 0/1:21,17:32:-56.99,-9.64,-61.90:99 -chr1 3801971 . G T 508.15 SnpCluster AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=35.42;MQ0=0;QD=14.52;SB=-198.56 GT:AD:DP:GL:GQ 0/1:17,18:35:-64.64,-10.54,-61.42:99 -chr1 3801978 . G C 1059.09 Indel;SnpCluster AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=45.04;MQ0=0;QD=40.73;SB=-392.21 GT:AD:DP:GL:GQ 1/1:0,26:25:-109.50,-7.53,-0.01:75.25 -chr1 3802009 rs12133786 A C 321.15 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=52.45;MQ0=0;OQ=1401.55;QD=33.37;SB=-709.03 GT:AD:DP:GL:GQ 1/1:0,42:41:-143.76,-12.35,-0.02:99 -chr1 3802570 rs10797352 T C 148.57 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.68;MQ0=0;OQ=1740.38;QD=32.84;SB=-623.49 GT:AD:DP:GL:GQ 1/1:0,53:51:-177.65,-15.37,-0.03:99 -chr1 3802708 rs10797353 C G 720.59 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2712.05;QD=38.74;SB=-1379.38 GT:AD:DP:GL:GQ 1/1:0,69:70:-279.01,-24.65,-4.23:99 -chr1 3804150 rs10797354 T C 170.50 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=59.56;MQ0=0;OQ=1825.12;QD=32.59;SB=-712.23 GT:AD:DP:GL:GQ 1/1:0,56:54:-186.12,-16.27,-0.03:99 -chr1 3804602 rs6658198 T C 302.07 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=59.62;MQ0=0;OQ=2079.20;QD=34.65;SB=-977.94 GT:AD:DP:GL:GQ 1/1:0,60:60:-211.53,-18.07,-0.02:99 -chr1 3806368 rs35131135 T C 13.18 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=0.92;MQ=58.87;MQ0=0;OQ=1257.30;QD=30.67;SB=-415.16 GT:AD:DP:GL:GQ 1/1:0,40:36:-129.33,-10.85,-0.01:99 -chr1 3806714 rs61770363 G A 10.79 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=58.71;MQ0=0;OQ=641.87;QD=35.66;SB=-278.65 GT:AD:DP:GL:GQ 1/1:0,18:18:-67.78,-5.43,-0.01:54.17 -chr1 3806753 rs4072725 C T 77.05 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=55.52;MQ0=0;OQ=544.23;QD=34.01;SB=-280.66 GT:AD:DP:GL:GQ 1/1:0,16:15:-58.01,-4.52,-0.01:45.14 -chr1 3808604 rs10797355 T C 125.29 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=53.60;MQ0=1;OQ=2350.13;QD=34.56;SB=-914.68 GT:AD:DP:GL:GQ 1/1:0,68:66:-238.63,-19.89,-0.03:99 -chr1 3808731 rs10797356 G A 43.83 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=2.07;MQ=58.71;MQ0=0;OQ=2012.52;QD=37.27;SB=-776.06 GT:AD:DP:GL:GQ 1/1:0,54:52:-204.86,-15.67,-0.02:99 -chr1 3809184 rs6672335 A G 119.40 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=59.56;MQ0=0;OQ=1683.69;QD=31.77;SB=-530.84 GT:AD:DP:GL:GQ 1/1:0,53:48:-171.97,-14.46,-0.02:99 -chr1 3809865 rs10909828 G A 654.97 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.19;MQ0=0;OQ=2184.41;QD=38.32;SB=-826.35 GT:AD:DP:GL:GQ 1/1:0,57:56:-222.04,-16.87,-0.02:99 -chr1 3809876 rs12139857 G C 137.16 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=59.22;MQ0=0;OQ=2518.12;QD=42.68;SB=-984.74 GT:AD:DP:GL:GQ 1/1:0,59:58:-255.41,-17.48,-0.02:99 -chr1 3811076 rs6687869 G A 107.90 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.45;MQ0=0;OQ=1628.97;QD=38.79;SB=-568.34 GT:AD:DP:GL:GQ 1/1:0,42:42:-166.50,-12.65,-0.01:99 -chr1 3811194 rs10797357 G A 521.93 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.15;MQ0=0;OQ=1858.19;QD=37.92;SB=-535.68 GT:AD:DP:GL:GQ 1/1:0,49:48:-189.42,-14.46,-0.01:99 -chr1 3812563 rs10909830 C T 206.83 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=3.08;MQ=58.81;MQ0=0;OQ=2305.91;QD=36.60;SB=-919.31 GT:AD:DP:GL:GQ 1/1:0,63:60:-234.20,-18.08,-0.02:99 -chr1 3812792 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=1;HaplotypeScore=14.74;MQ=58.39;MQ0=0;OQ=154.04;QD=2.80;SB=80.30 GT:AD:DP:GL:GQ 0/1:43,12:42:-31.36,-12.67,-148.77:99 -chr1 3816486 rs35332894 A G 12.94 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=1.52;MQ=58.25;MQ0=1;OQ=1726.98;QD=27.41;SB=-682.71 GT:AD:DP:GL:GQ 1/1:0,63:54:-176.33,-16.29,-0.05:99 -chr1 3817341 rs61770379 C T 109.94 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=59.38;MQ0=0;OQ=1418.14;QD=38.33;SB=-728.97 GT:AD:DP:GL:GQ 1/1:0,37:36:-145.41,-10.84,-0.01:99 -chr1 3819020 rs34825671 C T 409.20 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.42;MQ0=0;OQ=1564.33;QD=39.11;SB=-750.02 GT:AD:DP:GL:GQ 1/1:0,40:40:-160.03,-12.05,-0.01:99 -chr1 3819278 rs35368826 T C 12.24 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.26;MQ=60.00;MQ0=0;OQ=1199.67;QD=27.90;SB=-424.22 GT:AD:DP:GL:GQ 1/1:0,43:38:-123.59,-11.46,-0.04:99 -chr1 3819474 rs35583447 A G 89.06 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=58.69;MQ0=0;OQ=1939.06;QD=31.79;SB=-974.91 GT:AD:DP:GL:GQ 1/1:0,61:57:-197.52,-17.18,-0.03:99 -chr1 3819901 rs34284135 A G 55.75 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=58.81;MQ0=0;OQ=1296.25;QD=30.15;SB=-641.91 GT:AD:DP:GL:GQ 1/1:0,43:38:-133.23,-11.45,-0.02:99 -chr1 3820479 rs4073647 C A 185.05 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=59.55;MQ0=0;OQ=1638.97;QD=32.14;SB=-804.86 GT:AD:DP:GL:GQ 1/1:0,51:47:-167.50,-14.16,-0.02:99 -chr1 3820963 rs35355307 G A 127.74 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.69;MQ0=0;OQ=2262.75;QD=37.09;SB=-711.99 GT:AD:DP:GL:GQ 1/1:0,61:59:-229.89,-17.78,-0.03:99 -chr1 3821092 rs35241263 A G 89.02 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=58.63;MQ0=0;OQ=1378.97;QD=27.04;SB=-599.21 GT:AD:DP:GL:GQ 1/1:0,51:45:-141.53,-13.58,-0.05:99 -chr1 3821416 rs34803434 G A 80.51 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=3.13;MQ=58.07;MQ0=0;OQ=1633.32;QD=35.51;SB=-688.34 GT:AD:DP:GL:GQ 1/1:1,45:44:-166.94,-13.26,-0.02:99 -chr1 3823053 rs61770387 C T 609.64 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.67;MQ0=0;OQ=2714.99;QD=39.35;SB=-1139.68 GT:AD:DP:GL:GQ 1/1:0,69:68:-275.10,-20.48,-0.02:99 -chr1 3823181 rs61770388 T C 199.61 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.19;MQ0=0;OQ=1728.56;QD=33.24;SB=-864.04 GT:AD:DP:GL:GQ 1/1:0,52:50:-176.46,-15.06,-0.02:99 -chr1 3824979 rs61770390 T C 82.45 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.51;MQ=55.31;MQ0=0;OQ=486.55;QD=7.85;SB=-261.22 GT:AD:DP:GL:GQ 0/1:37,25:59:-69.72,-17.78,-147.85:99 -chr1 3824990 . C T 3.46 PASS AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=1;HaplotypeScore=3.66;MQ=55.46;MQ0=0;OQ=1251.91;QD=19.56;SB=-545.38 GT:AD:DP:GL:GQ 0/1:27,37:61:-146.86,-18.39,-82.02:99 -chr1 3825051 . C A 3.22 PASS AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=2;HaplotypeScore=3.18;MQ=58.29;MQ0=0;OQ=820.60;QD=11.56;SB=-414.89 GT:AD:DP:GL:GQ 0/1:42,29:71:-106.73,-21.38,-145.16:99 -chr1 3825054 . T C 10.09 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=1;HaplotypeScore=3.18;MQ=58.08;MQ0=0;OQ=722.16;QD=10.47;SB=-351.97 GT:AD:DP:GL:GQ 0/1:40,28:65:-95.08,-19.58,-155.89:99 -chr1 3825324 rs61770392 A T 88.32 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=57.20;MQ0=0;OQ=1894.97;QD=35.09;SB=-920.36 GT:AD:DP:GL:GQ 1/1:0,54:51:-193.10,-15.37,-0.02:99 -chr1 3827005 . C T 22.22 LowQual AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=43.17;MQ0=3;QD=1.48;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,3:9:-8.21,-2.71,-24.78:55.03 -chr1 3827011 . C T 25.21 LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=2.11;MQ=38.99;MQ0=3;QD=1.80;SB=-10.00 GT:AD:DP:GL:GQ 0/1:12,2:8:-8.21,-2.41,-21.31:58.03 -chr1 3830505 rs35265992 A G 0.12 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=4;HaplotypeScore=5.22;MQ=58.50;MQ0=0;OQ=970.90;QD=17.34;SB=-315.39 GT:AD:DP:GL:GQ 0/1:20,36:52:-116.04,-15.67,-75.68:99 -chr1 3830738 rs35974482 G A 171.95 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.40;MQ=57.87;MQ0=0;OQ=551.40;QD=12.53;SB=-198.84 GT:AD:DP:GL:GQ 0/1:25,19:40:-70.48,-12.05,-78.52:99 -chr1 3830888 rs35314156 G C 209.73 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=59.07;MQ0=0;OQ=668.40;QD=13.37;SB=-257.46 GT:AD:DP:GL:GQ 0/1:30,20:50:-85.20,-15.08,-125.99:99 -chr1 3831972 rs34835780 T C 632.20 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.64;MQ0=0;OQ=2285.64;QD=35.16;SB=-1132.81 GT:AD:DP:GL:GQ 1/1:0,65:64:-232.17,-19.28,-0.02:99 -chr1 3833915 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=79;Dels=0.00;HRun=0;HaplotypeScore=17.15;MQ=47.19;MQ0=1;OQ=288.77;QD=3.66;SB=-113.05 GT:AD:DP:GL:GQ 0/1:64,15:78:-55.66,-23.49,-226.25:99 -chr1 3895148 . C A 18 PASS AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=35.10;MQ0=1;OQ=333.31;QD=9.80;SB=-100.81 GT:AD:DP:GL:GQ 0/1:15,18:23:-43.54,-6.93,-34.49:99 -chr1 3895632 . G A 3.06 PASS AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=4;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=959.16;QD=14.11;SB=-372.32 GT:AD:DP:GL:GQ 0/1:38,30:68:-119.69,-20.49,-137.83:99 -chr1 3895766 rs61770398 T C 202.83 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=3.65;MQ=59.18;MQ0=0;OQ=960.24;QD=12.98;SB=-389.21 GT:AD:DP:GL:GQ 0/1:40,34:73:-121.30,-21.99,-162.55:99 -chr1 3899769 . C G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=2;HaplotypeScore=8.09;MQ=59.49;MQ0=0;OQ=340.78;QD=7.57;SB=47.18 GT:AD:DP:GL:GQ 0/1:26,19:34:-47.63,-10.27,-85.91:99 -chr1 3902626 rs12073174 A G 196.76 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=56.14;MQ0=0;OQ=542.74;QD=11.31;SB=-148.64 GT:AD:DP:GL:GQ 0/1:27,21:46:-71.41,-13.85,-105.98:99 -chr1 3902680 rs61770400 C T 70.11 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=5.09;MQ=59.24;MQ0=0;OQ=954.92;QD=15.65;SB=-346.04 GT:AD:DP:GL:GQ 0/1:29,32:59:-116.56,-17.78,-99.06:99 -chr1 3903888 . C T 983.33 SnpCluster AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=59.15;MQ0=0;QD=17.88;SB=-501.10 GT:AD:DP:GL:GQ 0/1:24,31:52:-117.28,-15.67,-81.69:99 -chr1 3903897 rs12076404 C T 1044.63 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.20;MQ0=0;QD=18.01;SB=-538.06 GT:AD:DP:GL:GQ 0/1:25,33:54:-124.01,-16.27,-82.66:99 -chr1 3903898 . G A 621.65 SnpCluster AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.17;MQ0=0;QD=11.10;SB=-272.76 GT:AD:DP:GL:GQ 0/1:33,23:52:-81.12,-15.67,-110.15:99 -chr1 3904122 . C T 64.01 PASS AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=0;HaplotypeScore=3.61;MQ=58.92;MQ0=0;OQ=1312.00;QD=16.00;SB=-449.98 GT:AD:DP:GL:GQ 0/1:43,39:81:-158.89,-24.40,-148.69:99 -chr1 3904123 rs7518198 G A 275.18 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=3.77;MQ=58.92;MQ0=0;OQ=1318.95;QD=16.08;SB=-404.76 GT:AD:DP:GL:GQ 0/1:38,44:78:-158.67,-23.50,-132.87:99 -chr1 3904259 rs55651676 C G 11.26 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=3;HaplotypeScore=0.67;MQ=58.80;MQ0=0;OQ=719.49;QD=18.45;SB=-354.47 GT:AD:DP:GL:GQ 0/1:17,22:35:-85.79,-10.56,-59.36:99 -chr1 3904673 rs56300127 T C 189.23 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.07;MQ0=0;OQ=384.21;QD=11.30;SB=-194.60 GT:AD:DP:GL:GQ 0/1:17,17:31:-51.05,-9.34,-58.99:99 -chr1 3905021 rs10915614 A G 3.58 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=4;HaplotypeScore=1.21;MQ=59.48;MQ0=0;OQ=428.89;QD=9.75;SB=-152.44 GT:AD:DP:GL:GQ 0/1:24,19:41:-58.53,-12.36,-93.35:99 -chr1 3905038 . G A 50.50 PASS AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.41;MQ0=0;OQ=477.39;QD=12.24;SB=-188.87 GT:AD:DP:GL:GQ 0/1:22,17:37:-62.18,-11.16,-67.50:99 -chr1 3905246 . C T 93.17 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=58.57;MQ0=0;OQ=1011.86;QD=16.32;SB=-440.98 GT:AD:DP:GL:GQ 0/1:30,32:58:-121.96,-17.49,-85.78:99 -chr1 3905920 rs7548668 T C 26.57 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=6.64;MQ=59.57;MQ0=0;OQ=666.76;QD=12.35;SB=-179.62 GT:AD:DP:GL:GQ 0/1:27,27:46:-83.82,-13.86,-87.80:99 -chr1 3906227 rs9793287 T C 337.13 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.61;MQ0=0;OQ=444.12;QD=9.25;SB=-215.36 GT:AD:DP:GL:GQ 0/1:27,21:46:-61.57,-13.87,-101.57:99 -chr1 3906248 rs12562706 C A 152.11 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=59.59;MQ0=0;OQ=415.45;QD=9.23;SB=-231.91 GT:AD:DP:GL:GQ 0/1:25,20:41:-57.18,-12.35,-86.80:99 -chr1 3906531 rs7526903 G A 280.93 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.63;MQ0=0;OQ=909.30;QD=17.83;SB=-442.97 GT:AD:DP:GL:GQ 0/1:23,27:47:-108.38,-14.16,-65.40:99 -chr1 3906648 rs7551771 C T 37.89 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=2.80;MQ=60.06;MQ0=0;OQ=776.93;QD=15.54;SB=-354.36 GT:AD:DP:GL:GQ 0/1:26,24:48:-95.43,-14.46,-92.96:99 -chr1 3906868 rs7519349 A G 578.45 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=764.11;QD=13.64;SB=-362.95 GT:AD:DP:GL:GQ 0/1:26,30:56:-96.58,-16.88,-105.57:99 -chr1 3906970 rs7519458 A G 232.59 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=1.80;MQ=60.00;MQ0=0;OQ=762.22;QD=13.14;SB=-199.60 GT:AD:DP:GL:GQ 0/1:26,31:57:-96.69,-17.19,-106.25:99 -chr1 3907888 rs10799162 T C 190.81 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.13;MQ=58.79;MQ0=0;OQ=719.58;QD=13.33;SB=-230.44 GT:AD:DP:GL:GQ 0/1:27,27:53:-91.22,-15.97,-102.46:99 -chr1 3907889 rs10799163 G T 86.43 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=2.13;MQ=58.79;MQ0=0;OQ=758.50;QD=14.05;SB=-193.54 GT:AD:DP:GL:GQ 0/1:27,26:51:-94.50,-15.37,-86.70:99 -chr1 3907912 rs10915345 G A 203.29 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=59.62;MQ0=0;OQ=1037.45;QD=17.01;SB=-258.26 GT:AD:DP:GL:GQ 0/1:29,32:57:-124.21,-17.18,-83.11:99 -chr1 3909896 rs6683165 G A 201.77 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.49;MQ=59.62;MQ0=0;OQ=837.44;QD=12.88;SB=-252.13 GT:AD:DP:GL:GQ 0/1:38,27:62:-105.71,-18.68,-120.77:99 -chr1 3910104 rs10799194 C T 90.26 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=1.69;MQ=60.00;MQ0=0;OQ=794.06;QD=13.23;SB=-418.44 GT:AD:DP:GL:GQ 0/1:34,26:57:-99.88,-17.19,-98.75:99 -chr1 3919557 rs9426474 A G 111.97 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.97;MQ0=0;OQ=1753.83;QD=29.73;SB=-828.62 GT:AD:DP:GL:GQ 1/1:0,59:55:-179.01,-16.59,-0.05:99 -chr1 3922104 rs9426475 T C 209.50 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=54.82;MQ0=0;OQ=1570.14;QD=28.55;SB=-720.64 GT:AD:DP:GL:GQ 1/1:0,55:50:-160.65,-15.09,-0.06:99 -chr1 3922325 rs10915469 T C 562.16 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1863.57;QD=28.24;SB=-798.65 GT:AD:DP:GL:GQ 1/1:0,66:58:-189.99,-17.49,-0.05:99 -chr1 3922572 rs7540846 C T 41.15 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=2;HaplotypeScore=0.57;MQ=53.34;MQ0=0;OQ=2905.34;QD=34.59;SB=-1359.03 GT:AD:DP:GL:GQ 1/1:0,81:75:-294.15,-22.60,-0.03:99 -chr1 3922839 rs7516192 G C 540.09 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.04;MQ0=0;OQ=2588.44;QD=42.43;SB=-1244.89 GT:AD:DP:GL:GQ 1/1:0,61:60:-262.44,-18.08,-0.02:99 -chr1 3922855 rs9426476 A G 185.57 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.74;MQ=58.63;MQ0=0;OQ=2064.09;QD=34.40;SB=-842.35 GT:AD:DP:GL:GQ 1/1:0,60:58:-210.01,-17.47,-0.02:99 -chr1 3922974 rs7541241 C A 552.27 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.64;MQ0=0;OQ=1520.98;QD=33.80;SB=-673.30 GT:AD:DP:GL:GQ 1/1:0,45:44:-155.71,-13.26,-0.03:99 -chr1 3923246 rs9426498 T C 9.78 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=1.56;MQ=52.33;MQ0=0;OQ=1450.84;QD=25.91;SB=-720.70 GT:AD:DP:GL:GQ 1/1:0,56:46:-148.71,-13.88,-0.05:99 -chr1 3923458 rs9426499 A C 507.51 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1349.47;QD=30.67;SB=-364.89 GT:AD:DP:GL:GQ 1/1:0,44:42:-138.57,-12.66,-0.04:99 -chr1 3923596 rs9426477 A G 619.10 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=2188.14;QD=34.73;SB=-945.36 GT:AD:DP:GL:GQ 1/1:0,63:61:-222.42,-18.37,-0.02:99 -chr1 3923941 rs6698811 T C 664.67 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.72;MQ0=0;OQ=2773.83;QD=33.83;SB=-1404.50 GT:AD:DP:GL:GQ 1/1:0,82:80:-281.00,-24.10,-0.03:99 -chr1 3936055 rs10753378 T C 376.82 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.51;MQ0=0;OQ=543.43;QD=11.56;SB=-218.27 GT:AD:DP:GL:GQ 0/1:23,24:45:-71.19,-13.57,-90.09:99 -chr1 3938219 . C T 61.19 PASS AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=3.45;MQ=59.60;MQ0=0;OQ=740.10;QD=12.76;SB=-319.83 GT:AD:DP:GL:GQ 0/1:30,28:53:-93.28,-15.99,-88.25:99 -chr1 3940015 rs4654525 C T 311.29 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.10;MQ0=0;OQ=1004.75;QD=15.00;SB=-479.00 GT:AD:DP:GL:GQ 0/1:36,31:66:-123.64,-19.88,-133.78:99 -chr1 3942839 rs60972376 A C 11.72 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=4.30;MQ=58.67;MQ0=0;OQ=585.81;QD=11.96;SB=-197.90 GT:AD:DP:GL:GQ 0/1:20,28:43:-74.82,-12.96,-73.58:99 -chr1 3942909 rs55887893 C T 197.25 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=60.00;MQ0=0;OQ=588.30;QD=11.77;SB=-314.85 GT:AD:DP:GL:GQ 0/1:29,21:47:-76.28,-14.17,-92.23:99 -chr1 3944651 rs59118111 G C 246.41 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.29;MQ=60.00;MQ0=0;OQ=1068.67;QD=16.44;SB=-449.44 GT:AD:DP:GL:GQ 0/1:32,33:64:-129.45,-19.30,-140.55:99 -chr1 3945187 rs4654538 G A 29.36 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=4.53;MQ=58.81;MQ0=0;OQ=1094.72;QD=19.90;SB=-430.80 GT:AD:DP:GL:GQ 0/1:23,32:55:-129.32,-16.57,-83.23:99 -chr1 3947137 rs4654543 T C 110.66 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=60.00;MQ0=0;OQ=382.96;QD=9.82;SB=-135.53 GT:AD:DP:GL:GQ 0/1:21,18:38:-53.04,-11.46,-84.39:99 -chr1 3947479 rs10449244 C A 197.72 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=60.00;MQ0=0;OQ=744.81;QD=13.07;SB=-230.89 GT:AD:DP:GL:GQ 0/1:29,28:53:-93.73,-15.97,-94.52:99 -chr1 3948534 rs4654544 A G 534.93 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=551.19;QD=12.53;SB=-251.96 GT:AD:DP:GL:GQ 0/1:21,23:44:-71.67,-13.27,-84.12:99 -chr1 3949636 rs4654436 T C 195.22 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=59.16;MQ0=0;OQ=834.97;QD=11.60;SB=-298.88 GT:AD:DP:GL:GQ 0/1:38,34:66:-106.67,-19.89,-140.32:99 -chr1 3949646 rs6426416 A T 32.24 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=3;HaplotypeScore=2.47;MQ=59.20;MQ0=0;OQ=1168.58;QD=15.38;SB=-401.17 GT:AD:DP:GL:GQ 0/1:38,38:72:-141.84,-21.70,-126.75:99 -chr1 3950380 . A G 266.35 PASS AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.46;MQ0=0;OQ=1356.42;QD=15.96;SB=-652.62 GT:AD:DP:GL:GQ 0/1:40,45:85:-164.53,-25.60,-164.89:99 -chr1 3950813 rs10737411 A G 175.98 PASS AC=1;AF=0.50;AN=2;DB;DP=108;Dels=0.00;HRun=1;HaplotypeScore=2.09;MQ=59.83;MQ0=0;OQ=1386.28;QD=12.84;SB=-502.53 GT:AD:DP:GL:GQ 0/1:55,53:107:-174.15,-32.24,-226.13:99 -chr1 3951883 rs6657331 G C 1.76 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=2.77;MQ=59.14;MQ0=0;OQ=976.24;QD=22.70;SB=-437.36 GT:AD:DP:GL:GQ 0/1:16,27:40:-112.97,-12.06,-59.28:99 -chr1 3951915 rs12145443 C T 0.21 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=14.98;MQ=58.72;MQ0=0;OQ=829.82;QD=21.84;SB=-313.85 GT:AD:DP:GL:GQ 0/1:13,25:37:-97.41,-11.15,-45.43:99 -chr1 3952816 rs10799236 A G 574.49 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=747.27;QD=14.10;SB=-330.89 GT:AD:DP:GL:GQ 0/1:27,26:52:-93.67,-15.66,-106.05:99 -chr1 3953295 rs12038964 T C 361.41 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.86;MQ0=0;OQ=750.82;QD=12.31;SB=-348.04 GT:AD:DP:GL:GQ 0/1:30,31:60:-96.45,-18.08,-120.40:99 -chr1 3953370 rs12040628 A G 147.24 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=2.81;MQ=59.55;MQ0=0;OQ=749.75;QD=14.70;SB=-277.27 GT:AD:DP:GL:GQ 0/1:21,30:49:-93.03,-14.77,-83.59:99 -chr1 3954832 rs9426500 A C 437.18 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=970.97;QD=16.46;SB=-363.09 GT:AD:DP:GL:GQ 0/1:25,34:59:-118.15,-17.77,-92.14:99 -chr1 3955140 rs7413013 G C 5.69 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=1.97;MQ=59.17;MQ0=0;OQ=1282.99;QD=22.91;SB=-362.10 GT:AD:DP:GL:GQ 0/1:21,35:56:-148.46,-16.87,-92.34:99 -chr1 3955487 rs9426501 T C 61.29 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=58.95;MQ0=0;OQ=1025.38;QD=16.54;SB=-268.62 GT:AD:DP:GL:GQ 0/1:26,36:60:-123.90,-18.08,-97.56:99 -chr1 3956324 rs28609919 G C 274.82 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=59.69;MQ0=0;OQ=890.13;QD=14.84;SB=-464.74 GT:AD:DP:GL:GQ 0/1:33,27:59:-110.08,-17.78,-139.21:99 -chr1 3957249 rs12756251 G A 25.08 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=2;HaplotypeScore=3.32;MQ=59.14;MQ0=0;OQ=1510.62;QD=18.65;SB=-581.41 GT:AD:DP:GL:GQ 0/1:36,45:78:-177.84,-23.50,-121.43:99 -chr1 3957262 rs12733769 T A 184.98 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=3.12;MQ=59.13;MQ0=0;OQ=1410.63;QD=17.63;SB=-590.40 GT:AD:DP:GL:GQ 0/1:34,46:77:-167.55,-23.20,-118.80:99 -chr1 3957348 rs12135298 A G 336.09 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=58.25;MQ0=0;OQ=781.36;QD=12.21;SB=-403.89 GT:AD:DP:GL:GQ 0/1:34,30:63:-100.41,-18.99,-132.61:99 -chr1 3959579 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=7.87;MQ=33.13;MQ0=5;OQ=83.58;QD=1.58;SB=-67.89 GT:AD:DP:GL:GQ 0/1:44,9:38:-23.11,-11.47,-97.21:99 -chr1 3959589 . G A 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=1;HaplotypeScore=8.30;MQ=33.13;MQ0=5;OQ=210.60;QD=3.76;SB=-42.01 GT:AD:DP:GL:GQ 0/1:42,14:42:-37.00,-12.66,-114.99:99 -chr1 3959610 rs4654559 T C 0.08 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=19.50;MQ=38.33;MQ0=4;OQ=745.10;QD=13.55;SB=-325.28 GT:AD:DP:GL:GQ 0/1:20,35:43:-90.76,-12.97,-56.11:99 -chr1 3959618 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=35.45;MQ=40.78;MQ0=4;OQ=377.28;QD=6.50;SB=-163.72 GT:AD:DP:GL:GQ 0/1:35,17:42:-66.15,-25.14,-90.45:99 -chr1 3959638 rs12137425 A G 6.15 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.13;MQ=49.20;MQ0=1;OQ=205.57;QD=4.28;SB=-109.83 GT:AD:DP:GL:GQ 0/1:33,15:40:-35.90,-12.06,-107.08:99 -chr1 3959766 . G A 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=1;HaplotypeScore=11.71;MQ=40.06;MQ0=2;OQ=205.60;QD=3.54;SB=-53.76 GT:AD:DP:GL:GQ 0/1:44,14:49:-38.61,-14.76,-139.54:99 -chr1 3959787 rs11807610 T C 0.34 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=13.45;MQ=43.41;MQ0=2;OQ=585.11;QD=10.45;SB=-259.35 GT:AD:DP:GL:GQ 0/1:22,34:43:-74.76,-12.96,-79.59:99 -chr1 3959815 rs10915563 A G 47.44 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=13.21;MQ=50.51;MQ0=1;QD=0.72;SB=62.23 GT:AD:DP:GL:GQ 0/1:56,10:52:-23.70,-15.67,-173.58:80.28 -chr1 3959825 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=18.02;MQ=51.36;MQ0=1;OQ=581.75;QD=8.19;SB=-258.36 GT:AD:DP:GL:GQ 0/1:43,28:61:-79.84,-18.38,-149.14:99 -chr1 3959826 . A G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=1;HaplotypeScore=9.14;MQ=50.86;MQ0=1;OQ=291.12;QD=3.93;SB=-139.48 GT:AD:DP:GL:GQ 0/1:51,23:56:-49.27,-16.88,-163.75:99 -chr1 3959854 rs10799245 C A 521.83 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=51.17;MQ0=0;OQ=879.17;QD=14.65;SB=-268.32 GT:AD:DP:GL:GQ 0/1:29,31:55:-107.78,-16.58,-78.49:99 -chr1 3961215 rs6670453 G C 331.68 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=59.13;MQ0=0;OQ=833.59;QD=15.73;SB=-292.89 GT:AD:DP:GL:GQ 0/1:29,24:53:-102.62,-15.98,-127.58:99 -chr1 3961230 rs6672877 G T 118.38 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=0.94;MQ=59.07;MQ0=0;OQ=633.10;QD=12.66;SB=-213.34 GT:AD:DP:GL:GQ 0/1:27,23:49:-81.35,-14.76,-89.22:99 -chr1 3961237 rs12045715 G A 510.42 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.09;MQ0=0;OQ=793.63;QD=15.56;SB=-285.83 GT:AD:DP:GL:GQ 0/1:26,25:51:-98.03,-15.38,-79.59:99 -chr1 3961468 rs12045781 G A 286.99 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.13;MQ=60.00;MQ0=0;OQ=606.20;QD=13.78;SB=-238.18 GT:AD:DP:GL:GQ 0/1:24,20:42:-76.57,-12.66,-72.65:99 -chr1 3961548 rs10799247 A G 169.43 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.55;MQ=58.33;MQ0=0;OQ=674.03;QD=12.04;SB=-151.92 GT:AD:DP:GL:GQ 0/1:31,24:52:-86.36,-15.67,-108.75:99 -chr1 3962010 rs4654565 G A 105.50 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=336.97;QD=12.96;SB=-103.61 GT:AD:DP:GL:GQ 0/1:14,12:25:-44.52,-7.54,-43.04:99 -chr1 3962589 rs4654447 A G 258.32 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=59.65;MQ0=0;OQ=712.70;QD=13.45;SB=-356.22 GT:AD:DP:GL:GQ 0/1:26,27:50:-89.62,-15.07,-95.62:99 -chr1 3962703 rs4654448 A C 265.60 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=756.85;QD=13.52;SB=-251.86 GT:AD:DP:GL:GQ 0/1:29,27:55:-95.53,-16.56,-103.20:99 -chr1 3962856 rs4654567 T C 95.03 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=59.17;MQ0=0;OQ=415.90;QD=9.24;SB=-159.46 GT:AD:DP:GL:GQ 0/1:25,20:42:-57.53,-12.66,-94.60:99 -chr1 3962899 rs4654449 G A 419.09 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.09;MQ=60.00;MQ0=0;OQ=648.86;QD=14.75;SB=-335.88 GT:AD:DP:GL:GQ 0/1:22,22:42:-80.82,-12.65,-78.42:99 -chr1 3963307 rs7520607 T C 230.94 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=3.28;MQ=58.42;MQ0=0;OQ=845.59;QD=14.58;SB=-424.34 GT:AD:DP:GL:GQ 0/1:26,32:53:-103.81,-15.97,-95.34:99 -chr1 3963607 rs4654568 T G 463.03 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.07;MQ0=0;OQ=931.94;QD=16.64;SB=-413.80 GT:AD:DP:GL:GQ 0/1:24,32:56:-113.34,-16.87,-88.78:99 -chr1 3963626 rs12027462 C T 248.09 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=57.57;MQ0=0;OQ=963.52;QD=17.21;SB=-429.93 GT:AD:DP:GL:GQ 0/1:26,30:55:-116.20,-16.57,-93.29:99 -chr1 3963784 rs4654451 G A 171.09 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=59.79;MQ0=0;OQ=912.02;QD=16.00;SB=-225.51 GT:AD:DP:GL:GQ 0/1:28,28:53:-110.46,-15.98,-78.09:99 -chr1 3964643 rs6426429 A G 60.66 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=1.27;MQ=59.56;MQ0=0;OQ=582.81;QD=11.00;SB=-285.59 GT:AD:DP:GL:GQ 0/1:28,25:51:-76.94,-15.38,-106.26:99 -chr1 3965132 rs4074993 C G 325.61 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=1.87;MQ=59.28;MQ0=0;OQ=814.87;QD=14.05;SB=-345.07 GT:AD:DP:GL:GQ 0/1:34,24:55:-101.37,-16.60,-121.74:99 -chr1 3965479 rs4074994 T C 268.09 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=52.28;MQ0=0;OQ=617.78;QD=12.36;SB=-300.36 GT:AD:DP:GL:GQ 0/1:25,25:49:-79.83,-14.77,-98.86:99 -chr1 3965536 rs57323923 T C 0.88 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=4;HaplotypeScore=2.11;MQ=50.55;MQ0=0;OQ=424.15;QD=8.48;SB=-173.38 GT:AD:DP:GL:GQ 0/1:29,21:47:-59.86,-14.17,-115.12:99 -chr1 3965975 . C G 7.70 PASS AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=58.67;MQ0=0;OQ=589.92;QD=12.04;SB=-25.38 GT:AD:DP:GL:GQ 0/1:32,17:46:-76.14,-13.87,-119.93:99 -chr1 3965977 . T C 0.69 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=2;HaplotypeScore=1.11;MQ=58.22;MQ0=0;OQ=427.57;QD=8.55;SB=-16.87 GT:AD:DP:GL:GQ 0/1:33,17:49:-60.80,-14.76,-127.29:99 -chr1 3966027 rs7414863 A C 144.45 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.13;MQ0=0;OQ=452.26;QD=9.42;SB=-62.85 GT:AD:DP:GL:GQ 0/1:27,21:45:-62.07,-13.56,-92.65:99 -chr1 3966540 rs3935559 C G 391.87 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.17;MQ0=0;OQ=1031.71;QD=18.42;SB=-312.99 GT:AD:DP:GL:GQ 0/1:24,32:56:-123.36,-16.90,-103.47:99 -chr1 3966816 . G A 1.68 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=0;HaplotypeScore=5.13;MQ=57.97;MQ0=0;OQ=1415.89;QD=20.52;SB=-484.12 GT:AD:DP:GL:GQ 0/1:24,45:61:-163.26,-18.38,-64.39:99 -chr1 3967294 rs12747294 C T 4.07 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=8.87;MQ=56.15;MQ0=1;OQ=813.80;QD=16.95;SB=-391.14 GT:AD:DP:GL:GQ 0/1:22,26:45:-98.22,-13.56,-71.93:99 -chr1 3967372 rs6702213 C T 194.14 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.65;MQ=34.49;MQ0=0;OQ=718.26;QD=12.17;SB=-239.54 GT:AD:DP:GL:GQ 0/1:33,26:54:-91.39,-16.28,-98.59:99 -chr1 3967404 rs6661264 T C 167.37 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=40.81;MQ0=0;OQ=475.36;QD=8.80;SB=-244.91 GT:AD:DP:GL:GQ 0/1:34,20:52:-66.49,-15.67,-131.05:99 -chr1 3967405 rs6675434 G A 377.49 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=40.63;MQ0=0;OQ=533.67;QD=9.70;SB=-290.77 GT:AD:DP:GL:GQ 0/1:34,21:52:-72.31,-15.66,-122.28:99 -chr1 3967434 rs12747604 C T 38.96 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=46.12;MQ0=0;OQ=331.44;QD=7.71;SB=-108.07 GT:AD:DP:GL:GQ 0/1:29,14:41:-48.79,-12.36,-91.55:99 -chr1 3967444 rs56081307 C A 64.62 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=45.65;MQ0=0;OQ=391.03;QD=8.32;SB=-188.48 GT:AD:DP:GL:GQ 0/1:31,16:44:-55.64,-13.25,-103.38:99 -chr1 3967458 rs6661363 T C 158.21 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=46.22;MQ0=0;OQ=383.22;QD=7.82;SB=-172.51 GT:AD:DP:GL:GQ 0/1:29,19:44:-54.87,-13.26,-104.62:99 -chr1 3967912 rs6675979 G A 278.83 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.51;MQ=58.64;MQ0=0;OQ=1206.49;QD=19.46;SB=-623.12 GT:AD:DP:GL:GQ 0/1:25,37:60:-142.02,-18.08,-76.63:99 -chr1 3968006 rs12731145 A G 28.60 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=5.76;MQ=59.49;MQ0=0;OQ=439.53;QD=9.77;SB=-228.43 GT:AD:DP:GL:GQ 0/1:27,18:43:-60.19,-12.95,-105.51:99 -chr1 3968073 rs6426431 G A 223.15 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=59.56;MQ0=0;OQ=482.88;QD=9.29;SB=-221.45 GT:AD:DP:GL:GQ 0/1:34,18:50:-66.64,-15.07,-119.13:99 -chr1 3968105 rs12744667 G A 365.59 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=59.56;MQ0=0;OQ=827.90;QD=15.62;SB=-433.93 GT:AD:DP:GL:GQ 0/1:27,26:51:-101.44,-15.36,-92.63:99 -chr1 3968106 rs55866108 A G 217.98 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=59.57;MQ0=0;OQ=738.88;QD=13.68;SB=-284.42 GT:AD:DP:GL:GQ 0/1:27,27:53:-93.14,-15.96,-108.96:99 -chr1 3968537 rs12753281 C G 269.93 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.90;MQ0=0;OQ=1244.08;QD=14.99;SB=-559.96 GT:AD:DP:GL:GQ 0/1:45,38:83:-152.72,-25.03,-193.42:99 -chr1 3968581 rs12736036 A G 78.01 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=3.15;MQ=57.56;MQ0=0;OQ=949.82;QD=11.58;SB=-430.05 GT:AD:DP:GL:GQ 0/1:44,38:77:-121.46,-23.19,-177.75:99 -chr1 3968726 rs34940664 G T 190.81 PASS AC=1;AF=0.50;AN=2;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.33;MQ0=0;OQ=1575.63;QD=16.24;SB=-709.50 GT:AD:DP:GL:GQ 0/1:45,52:96:-189.76,-28.91,-164.22:99 -chr1 3968753 rs35749996 A G 455.09 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.50;MQ0=0;OQ=1487.59;QD=17.92;SB=-656.99 GT:AD:DP:GL:GQ 0/1:35,48:83:-177.04,-25.00,-145.40:99 -chr1 3968768 rs12753644 C G 340.70 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.54;MQ0=0;OQ=1876.77;QD=20.85;SB=-779.42 GT:AD:DP:GL:GQ 0/1:40,50:90:-218.08,-27.12,-169.27:99 -chr1 3968858 rs12045134 A C 23.52 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=5.51;MQ=58.42;MQ0=0;OQ=708.96;QD=8.54;SB=-321.59 GT:AD:DP:GL:GQ 0/1:52,31:81:-98.58,-24.40,-189.89:99 -chr1 3968949 rs12047590 G T 243.75 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=59.74;MQ0=0;OQ=980.09;QD=13.61;SB=-395.21 GT:AD:DP:GL:GQ 0/1:39,33:71:-122.68,-21.39,-124.97:99 -chr1 3969008 rs12027284 C T 226.70 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=59.68;MQ0=0;OQ=1351.13;QD=18.77;SB=-463.00 GT:AD:DP:GL:GQ 0/1:32,40:69:-159.19,-20.80,-95.94:99 -chr1 3969221 rs12045225 A G 0.63 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=9.56;MQ=58.22;MQ0=0;OQ=654.37;QD=13.09;SB=-95.63 GT:AD:DP:GL:GQ 0/1:21,29:44:-81.99,-13.27,-67.60:99 -chr1 3969391 rs12046014 A G 106.22 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=3.88;MQ=58.95;MQ0=0;OQ=580.96;QD=9.37;SB=-244.16 GT:AD:DP:GL:GQ 0/1:36,26:57:-78.56,-17.18,-134.21:99 -chr1 3969440 rs12044268 T C 521.33 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=58.87;MQ0=0;QD=12.72;SB=-263.94 GT:AD:DP:GL:GQ 0/1:19,21:40:-67.48,-12.06,-76.36:99 -chr1 3969444 rs12048464 G T 535.50 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=58.71;MQ0=0;QD=14.88;SB=-256.96 GT:AD:DP:GL:GQ 0/1:18,18:36:-67.68,-10.85,-54.15:99 -chr1 3969450 rs34283588 G A 563.46 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=58.55;MQ0=0;QD=17.61;SB=-257.77 GT:AD:DP:GL:GQ 0/1:15,17:30:-68.67,-9.04,-41.92:99 -chr1 3969504 rs12028147 C A 128.14 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=58.50;MQ0=0;OQ=1173.33;QD=18.92;SB=-401.82 GT:AD:DP:GL:GQ 0/1:25,37:62:-139.29,-18.67,-88.93:99 -chr1 3969731 rs35514116 C A 193.09 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=2.36;MQ=59.11;MQ0=0;OQ=1169.40;QD=14.99;SB=-425.64 GT:AD:DP:GL:GQ 0/1:38,39:78:-146.50,-26.28,-138.29:99 -chr1 3969738 rs35902612 G T 87.34 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=3.60;MQ=59.14;MQ0=0;OQ=1314.22;QD=16.22;SB=-492.89 GT:AD:DP:GL:GQ 0/1:38,43:80:-158.80,-24.09,-135.14:99 -chr1 3969835 rs34306433 G C 322.67 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=60.00;MQ0=0;OQ=1225.99;QD=18.03;SB=-578.33 GT:AD:DP:GL:GQ 0/1:31,36:68:-148.71,-22.83,-138.52:99 -chr1 3970192 rs34458454 T C 115.71 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=60.00;MQ0=0;OQ=393.81;QD=8.04;SB=-222.38 GT:AD:DP:GL:GQ 0/1:28,21:43:-55.63,-12.97,-98.60:99 -chr1 3970255 rs34994381 G A 356.92 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=1045.77;QD=16.09;SB=-475.47 GT:AD:DP:GL:GQ 0/1:34,31:61:-126.25,-18.39,-98.09:99 -chr1 3970431 rs35579324 A T 318.12 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=59.56;MQ0=0;OQ=768.67;QD=14.78;SB=-345.07 GT:AD:DP:GL:GQ 0/1:26,26:52:-95.82,-15.67,-98.48:99 -chr1 3970448 rs35474759 C T 457.86 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=955.78;QD=18.03;SB=-501.52 GT:AD:DP:GL:GQ 0/1:25,28:52:-114.52,-15.66,-86.38:99 -chr1 3970842 rs12049555 G A 157.06 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=59.39;MQ0=0;OQ=384.99;QD=10.13;SB=-163.62 GT:AD:DP:GL:GQ 0/1:23,15:35:-52.33,-10.55,-71.59:99 -chr1 3970912 rs6664533 C T 146.77 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=3.51;MQ=58.67;MQ0=0;OQ=505.76;QD=14.45;SB=-247.75 GT:AD:DP:GL:GQ 0/1:19,16:34:-64.11,-10.25,-57.21:99 -chr1 3971010 rs6664655 C G 360.39 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=59.06;MQ0=0;OQ=1105.77;QD=14.94;SB=-455.72 GT:AD:DP:GL:GQ 0/1:42,32:74:-136.16,-22.30,-181.19:99 -chr1 3971024 rs6686502 G A 241.40 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=59.09;MQ0=0;OQ=1058.60;QD=13.93;SB=-346.09 GT:AD:DP:GL:GQ 0/1:42,34:75:-131.76,-22.62,-128.76:99 -chr1 3971052 rs6672264 T C 278.60 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=59.20;MQ0=0;OQ=887.02;QD=10.95;SB=-268.12 GT:AD:DP:GL:GQ 0/1:49,32:80:-116.09,-24.10,-192.61:99 -chr1 3971195 rs6686709 G C 441.55 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.07;MQ0=0;OQ=533.40;QD=11.85;SB=-281.29 GT:AD:DP:GL:GQ 0/1:29,16:42:-69.28,-12.66,-112.85:99 -chr1 3971259 rs6680847 A G 343.35 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=805.68;QD=13.21;SB=-291.63 GT:AD:DP:GL:GQ 0/1:33,28:60:-101.92,-18.07,-129.04:99 -chr1 3971430 rs6675053 T C 59.44 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=57.14;MQ0=0;OQ=478.62;QD=6.74;SB=-133.24 GT:AD:DP:GL:GQ 0/1:48,23:70:-72.24,-21.10,-194.61:99 -chr1 3971753 . C A 69.39 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=12;HaplotypeScore=26.59;MQ=52.60;MQ0=0;QD=1.16;SB=62.22 GT:AD:DP:GL:GQ 0/1:50,10:49:-24.98,-14.76,-146.09:99 -chr1 3971766 rs12030209 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=12;HaplotypeScore=17.56;MQ=52.68;MQ0=0;OQ=817.96;QD=12.39;SB=-315.05 GT:AD:DP:GL:GQ 0/1:32,34:60:-103.15,-18.07,-109.51:99 -chr1 3972069 rs55798869 G T 4.80 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=3;HaplotypeScore=5.71;MQ=56.04;MQ0=0;OQ=802.09;QD=13.37;SB=-418.83 GT:AD:DP:GL:GQ 0/1:32,28:52:-99.17,-15.67,-74.15:99 -chr1 3972136 rs55745368 T C 189.98 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=59.03;MQ0=0;OQ=1099.26;QD=12.08;SB=-445.57 GT:AD:DP:GL:GQ 0/1:52,39:91:-140.63,-27.42,-210.68:99 -chr1 3972189 rs7414301 T C 60.16 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=5.42;MQ=59.51;MQ0=0;OQ=1011.76;QD=11.76;SB=-466.68 GT:AD:DP:GL:GQ 0/1:46,40:86:-130.38,-25.92,-186.30:99 -chr1 3972623 . A C 192.74 PASS AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.77;MQ0=0;OQ=1230.69;QD=15.38;SB=-527.79 GT:AD:DP:GL:GQ 0/1:36,44:79:-150.15,-23.80,-134.39:99 -chr1 3972753 rs10915589 G A 130.98 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=59.30;MQ0=0;OQ=1165.16;QD=17.65;SB=-331.36 GT:AD:DP:GL:GQ 0/1:30,36:63:-138.78,-18.98,-103.29:99 -chr1 3972924 rs12023372 G C 321.94 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.20;MQ0=0;OQ=1325.91;QD=18.94;SB=-613.61 GT:AD:DP:GL:GQ 0/1:33,37:69:-156.66,-20.79,-145.10:99 -chr1 3973210 rs12023479 G A 281.53 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=59.70;MQ0=0;OQ=1046.55;QD=13.59;SB=-512.32 GT:AD:DP:GL:GQ 0/1:44,33:77:-131.15,-23.21,-144.02:99 -chr1 3973292 . A G 33.55 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=55.10;MQ0=0;OQ=633.05;QD=11.94;SB=-175.56 GT:AD:DP:GL:GQ 0/1:28,25:47:-80.75,-14.16,-95.41:99 -chr1 3973506 . G A 176.17 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.46;MQ0=0;OQ=876.83;QD=12.71;SB=-380.14 GT:AD:DP:GL:GQ 0/1:42,27:67:-111.16,-20.19,-131.21:99 -chr1 3973875 rs4654459 T A 52.35 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=2;HaplotypeScore=2.73;MQ=58.55;MQ0=0;OQ=1176.09;QD=14.70;SB=-563.67 GT:AD:DP:GL:GQ 0/1:41,39:78:-144.39,-23.49,-149.95:99 -chr1 3973955 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=17;HaplotypeScore=22.03;MQ=54.06;MQ0=0;OQ=55.47;QD=1.03;SB=65.23 GT:AD:DP:GL:GQ 0/1:43,10:44:-22.08,-13.25,-133.74:88.31 -chr1 3974003 . A G 105.47 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=58.51;MQ0=0;OQ=461.72;QD=11.26;SB=-234.29 GT:AD:DP:GL:GQ 0/1:22,19:40:-61.51,-12.06,-83.11:99 -chr1 3974203 . T G 66.57 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=57.62;MQ0=0;OQ=954.85;QD=13.84;SB=-428.75 GT:AD:DP:GL:GQ 0/1:35,34:68:-119.25,-20.48,-128.89:99 -chr1 3974239 rs35998568 G A 463.07 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.48;MQ0=0;OQ=1184.56;QD=17.95;SB=-510.14 GT:AD:DP:GL:GQ 0/1:31,35:66:-141.63,-19.89,-102.39:99 -chr1 3974376 rs57696600 C T 6.14 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=4;HaplotypeScore=1.87;MQ=59.16;MQ0=0;OQ=1418.07;QD=19.70;SB=-722.06 GT:AD:DP:GL:GQ 0/1:30,42:71:-166.49,-21.40,-92.47:99 -chr1 3974614 rs4457544 A T 403.15 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.50;MQ0=0;OQ=1649.20;QD=19.18;SB=-732.91 GT:AD:DP:GL:GQ 0/1:34,52:86:-194.11,-25.90,-133.63:99 -chr1 3974846 rs12025374 G A 466.59 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.31;MQ0=0;OQ=1051.59;QD=16.43;SB=-403.40 GT:AD:DP:GL:GQ 0/1:31,33:63:-127.44,-18.99,-100.16:99 -chr1 3975091 rs12049502 T C 199.42 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=58.55;MQ0=0;OQ=805.28;QD=16.78;SB=-288.47 GT:AD:DP:GL:GQ 0/1:19,29:47:-97.97,-14.16,-75.75:99 -chr1 3975721 rs34928897 A G 109.87 PASS AC=1;AF=0.50;AN=2;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=59.19;MQ0=1;OQ=1038.58;QD=10.93;SB=-532.63 GT:AD:DP:GL:GQ 0/1:53,42:94:-135.47,-28.33,-210.33:99 -chr1 3975829 rs12060834 A C 406.62 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=1062.88;QD=14.56;SB=-251.81 GT:AD:DP:GL:GQ 0/1:37,36:73:-131.56,-21.98,-139.84:99 -chr1 3975904 rs12026411 G T 347.07 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=57.00;MQ0=0;OQ=1228.86;QD=14.99;SB=-454.51 GT:AD:DP:GL:GQ 0/1:42,40:82:-150.86,-24.69,-151.44:99 -chr1 3976117 rs12034312 C T 244.48 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=60.00;MQ0=0;OQ=1562.01;QD=18.38;SB=-442.95 GT:AD:DP:GL:GQ 0/1:40,45:84:-184.80,-25.32,-123.96:99 -chr1 3976389 rs35297022 T C 334.71 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=962.55;QD=13.95;SB=-357.60 GT:AD:DP:GL:GQ 0/1:35,34:68:-120.03,-20.49,-141.31:99 -chr1 3976394 rs35043594 A T 325.11 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=916.45;QD=13.68;SB=-308.03 GT:AD:DP:GL:GQ 0/1:36,31:67:-115.11,-20.18,-137.00:99 -chr1 3976477 rs4641284 A G 171.33 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=58.95;MQ0=0;OQ=487.70;QD=11.08;SB=-180.60 GT:AD:DP:GL:GQ 0/1:26,18:42:-64.71,-12.65,-94.45:99 -chr1 3976506 rs34448752 C T 57.24 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=2.60;MQ=56.85;MQ0=0;OQ=445.94;QD=14.86;SB=-105.62 GT:AD:DP:GL:GQ 0/1:16,14:29:-56.62,-8.74,-46.04:99 -chr1 3976567 . C T 0.32 PASS AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=0;HaplotypeScore=1.54;MQ=51.77;MQ0=0;OQ=226.37;QD=18.86;SB=-10.00 GT:AD:DP:GL:GQ 0/1:3,9:11:-29.24,-3.32,-8.40:50.74 -chr1 3976658 rs35326871 G T 11.99 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.52;MQ0=0;OQ=1096.88;QD=17.41;SB=-10.00 GT:AD:DP:GL:GQ 0/1:25,38:62:-131.64,-18.67,-93.14:99 -chr1 3977151 rs10915596 T G 1.14 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=3.48;MQ=59.09;MQ0=0;OQ=756.41;QD=14.83;SB=-45.56 GT:AD:DP:GL:GQ 0/1:22,29:48:-93.38,-14.46,-82.79:99 -chr1 3977453 rs4654599 G T 361.03 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=59.46;MQ0=0;OQ=1289.21;QD=16.74;SB=-567.82 GT:AD:DP:GL:GQ 0/1:35,42:77:-155.40,-23.19,-125.68:99 -chr1 3977541 rs4654600 T C 61.36 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=3.43;MQ=59.43;MQ0=0;OQ=838.26;QD=17.11;SB=-388.65 GT:AD:DP:GL:GQ 0/1:18,30:47:-103.58,-16.47,-75.42:99 -chr1 3977567 rs4654601 G A 272.32 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.55;MQ0=0;OQ=1148.82;QD=18.83;SB=-426.81 GT:AD:DP:GL:GQ 0/1:26,35:60:-136.24,-18.08,-87.47:99 -chr1 3977950 rs4654604 T C 322.32 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=59.65;MQ0=0;OQ=975.26;QD=14.78;SB=-339.18 GT:AD:DP:GL:GQ 0/1:28,38:65:-120.40,-19.59,-110.65:99 -chr1 3978231 rs4129099 T C 330.29 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=60.00;MQ0=0;OQ=733.04;QD=11.64;SB=-345.90 GT:AD:DP:GL:GQ 0/1:32,31:62:-95.28,-18.69,-130.06:99 -chr1 3978308 rs4129100 G A 317.73 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.48;MQ0=0;OQ=1482.59;QD=16.85;SB=-689.02 GT:AD:DP:GL:GQ 0/1:42,46:86:-177.46,-25.92,-132.95:99 -chr1 3980624 rs4323679 C T 566.66 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=703.77;QD=12.13;SB=-349.85 GT:AD:DP:GL:GQ 0/1:35,23:57:-90.85,-17.19,-108.01:99 -chr1 3980746 rs35182639 G A 123.92 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=4.13;MQ=59.70;MQ0=0;OQ=1453.16;QD=18.63;SB=-621.68 GT:AD:DP:GL:GQ 0/1:35,43:76:-171.51,-22.91,-105.10:99 -chr1 3980982 rs12747944 G A 386.78 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=60.00;MQ0=0;OQ=715.67;QD=12.56;SB=-369.37 GT:AD:DP:GL:GQ 0/1:32,24:53:-90.82,-15.97,-105.07:99 -chr1 3981385 rs17404600 C T 307.96 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.06;MQ=59.56;MQ0=0;OQ=909.30;QD=17.16;SB=-459.01 GT:AD:DP:GL:GQ 0/1:26,27:49:-108.98,-14.77,-70.07:99 -chr1 3981945 . G C 7.35 PASS AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=2;HaplotypeScore=2.62;MQ=59.25;MQ0=0;OQ=783.42;QD=13.99;SB=-334.02 GT:AD:DP:GL:GQ 0/1:33,23:54:-97.92,-16.29,-122.30:99 -chr1 3981947 rs10799260 C T 127.54 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=2.62;MQ=59.25;MQ0=0;OQ=721.41;QD=12.88;SB=-288.75 GT:AD:DP:GL:GQ 0/1:33,23:55:-91.99,-16.57,-116.30:99 -chr1 3982051 rs10753384 A G 287.89 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.81;MQ=59.62;MQ0=0;OQ=891.61;QD=14.62;SB=-286.59 GT:AD:DP:GL:GQ 0/1:30,31:60:-110.52,-18.08,-117.65:99 -chr1 3982227 rs10799261 T C 592.68 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.67;MQ0=0;OQ=920.95;QD=13.35;SB=-433.27 GT:AD:DP:GL:GQ 0/1:35,34:67:-115.56,-20.18,-140.96:99 -chr1 3982891 rs12023925 T C 257.35 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=59.13;MQ0=0;OQ=486.42;QD=9.18;SB=-229.40 GT:AD:DP:GL:GQ 0/1:30,23:50:-67.00,-15.07,-113.54:99 -chr1 3984164 rs7418256 T G 46.90 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=4;HaplotypeScore=1.00;MQ=59.72;MQ0=0;OQ=1495.13;QD=18.23;SB=-531.78 GT:AD:DP:GL:GQ 0/1:33,49:80:-176.89,-24.10,-113.02:99 -chr1 3984958 rs6426436 A G 575.34 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.65;MQ0=0;OQ=842.05;QD=12.95;SB=-332.89 GT:AD:DP:GL:GQ 0/1:35,30:64:-106.77,-19.28,-141.35:99 -chr1 3985143 rs5015188 T C 159.92 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=12.99;MQ=58.62;MQ0=0;QD=2.25;SB=-60.43 GT:AD:DP:GL:GQ 0/1:60,11:70:-40.36,-21.09,-240.05:99 -chr1 3985147 rs5015187 T C 314.93 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=67.96;MQ=58.31;MQ0=0;QD=4.37;SB=-165.46 GT:AD:DP:GL:GQ 0/1:57,15:70:-55.86,-21.08,-223.89:99 -chr1 3985151 rs5015186 T C 601.51 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.01;HRun=1;HaplotypeScore=11.99;MQ=58.34;MQ0=0;QD=8.24;SB=-304.19 GT:AD:DP:GL:GQ 0/1:49,23:71:-84.52,-21.09,-190.22:99 -chr1 3985364 rs4233266 A G 350.55 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=58.47;MQ0=0;OQ=817.82;QD=10.76;SB=-299.84 GT:AD:DP:GL:GQ 0/1:41,35:71:-106.46,-21.39,-162.85:99 -chr1 3985761 rs4654611 G C 378.30 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=59.78;MQ0=0;OQ=1274.73;QD=15.36;SB=-534.37 GT:AD:DP:GL:GQ 0/1:45,38:78:-154.27,-23.51,-187.35:99 -chr1 3985811 rs4654612 C T 99.80 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=4.68;MQ=59.17;MQ0=0;OQ=618.20;QD=11.04;SB=-273.28 GT:AD:DP:GL:GQ 0/1:30,25:47:-79.28,-14.18,-83.87:99 -chr1 3988267 rs3829818 C G 50.86 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=59.32;MQ0=0;OQ=1075.32;QD=19.55;SB=-391.87 GT:AD:DP:GL:GQ 0/1:26,29:54:-127.10,-16.29,-99.01:99 -chr1 3988626 rs34649702 A C 437.42 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=920.32;QD=18.41;SB=-485.28 GT:AD:DP:GL:GQ 0/1:20,30:49:-110.07,-14.76,-69.08:99 -chr1 3988704 rs55889146 T A 313.04 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=59.71;MQ0=0;OQ=1088.43;QD=16.75;SB=-492.44 GT:AD:DP:GL:GQ 0/1:29,36:65:-131.71,-19.58,-109.61:99 -chr1 3989745 rs35412083 G A 332.59 PASS AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.92;MQ0=0;OQ=1097.15;QD=11.93;SB=-405.76 GT:AD:DP:GL:GQ 0/1:55,36:89:-139.82,-26.82,-176.39:99 -chr1 3990405 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=94;Dels=0.03;HRun=18;HaplotypeScore=33.42;MQ=54.32;MQ0=1;OQ=80.49;QD=0.86;SB=90.81 GT:AD:DP:GL:GQ 0/1:76,15:73:-32.44,-21.10,-200.50:99 -chr1 3990446 rs34385055 G A 276.71 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.80;MQ=58.88;MQ0=0;OQ=865.10;QD=15.73;SB=-440.45 GT:AD:DP:GL:GQ 0/1:26,29:49:-104.56,-14.77,-74.37:99 -chr1 3990572 rs10915650 T C 322.59 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=53.91;MQ0=0;OQ=802.60;QD=15.43;SB=-363.11 GT:AD:DP:GL:GQ 0/1:19,33:50:-98.61,-15.07,-76.41:99 -chr1 3990932 rs4654614 C T 267.85 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.78;MQ0=0;OQ=1697.75;QD=19.97;SB=-727.98 GT:AD:DP:GL:GQ 0/1:36,49:85:-198.66,-25.60,-134.20:99 -chr1 3991939 . G T 133.26 Indel AC=1;AF=0.50;AN=2;DP=31;Dels=0.03;HRun=0;HaplotypeScore=37.12;MQ=55.25;MQ0=0;QD=4.30;SB=-33.93 GT:AD:DP:GL:GQ 0/1:22,8:23:-23.24,-6.63,-47.74:99 -chr1 3992866 rs34160796 A G 334.90 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.66;MQ0=0;OQ=483.28;QD=9.29;SB=-177.56 GT:AD:DP:GL:GQ 0/1:33,19:51:-66.97,-15.36,-129.46:99 -chr1 3993123 rs10915661 A G 223.41 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=1.93;MQ=58.90;MQ0=0;OQ=752.89;QD=12.76;SB=-356.58 GT:AD:DP:GL:GQ 0/1:32,27:57:-95.74,-17.17,-122.04:99 -chr1 3993398 rs10799273 A G 39.64 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=2;HaplotypeScore=1.05;MQ=58.69;MQ0=0;OQ=432.60;QD=13.52;SB=-183.96 GT:AD:DP:GL:GQ 0/1:16,16:30:-55.58,-9.04,-60.72:99 -chr1 3993415 rs55877711 T C 152.20 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=59.43;MQ0=0;OQ=474.94;QD=14.39;SB=-232.31 GT:AD:DP:GL:GQ 0/1:16,17:31:-60.12,-9.34,-57.39:99 -chr1 3993656 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=16;HaplotypeScore=11.17;MQ=56.96;MQ0=0;OQ=77.46;QD=1.25;SB=65.19 GT:AD:DP:GL:GQ 0/1:50,11:45:-24.60,-13.57,-123.37:99 -chr1 3994923 rs4654469 G A 168.23 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.96;MQ=59.68;MQ0=0;OQ=1491.96;QD=20.44;SB=-717.78 GT:AD:DP:GL:GQ 0/1:30,43:72:-174.18,-21.70,-94.37:99 -chr1 3995705 rs34085171 T G 1347.57 Indel AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=60.38;MQ0=0;QD=15.85;SB=-684.75 GT:AD:DP:GL:GQ 0/1:40,45:84:-163.34,-25.30,-143.02:99 -chr1 3997814 . A G 166.71 PASS AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.77;MQ0=0;OQ=1047.22;QD=13.09;SB=-493.22 GT:AD:DP:GL:GQ 0/1:44,36:80:-132.11,-24.10,-175.80:99 -chr1 3999521 rs7533488 A C 424.91 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=59.32;MQ0=0;OQ=1161.71;QD=14.17;SB=-423.73 GT:AD:DP:GL:GQ 0/1:41,40:80:-143.55,-24.09,-150.24:99 -chr1 4000164 rs10753345 T C 207.13 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=54.60;MQ0=3;OQ=972.02;QD=12.62;SB=-388.88 GT:AD:DP:GL:GQ 0/1:39,38:72:-122.18,-21.70,-141.20:99 -chr1 4000350 rs10915304 A G 90.68 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=1.40;MQ=49.42;MQ0=0;OQ=302.07;QD=8.39;SB=-112.62 GT:AD:DP:GL:GQ 0/1:20,15:32:-43.14,-9.65,-72.05:99 -chr1 4001557 rs35079847 T C 179.63 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=42.74;MQ0=4;OQ=737.26;QD=10.24;SB=-356.16 GT:AD:DP:GL:GQ 0/1:43,29:67:-97.19,-20.18,-162.42:99 -chr1 4002410 rs9792845 T A 39.80 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=2;HaplotypeScore=2.16;MQ=49.63;MQ0=6;OQ=1137.13;QD=12.92;SB=-561.60 GT:AD:DP:GL:GQ 0/1:48,40:80:-141.09,-24.09,-168.17:99 -chr1 4002600 . C T 9.93 PASS AC=1;AF=0.50;AN=2;DP=126;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=34.65;MQ0=18;OQ=1297.58;QD=10.30;SB=-536.53 GT:AD:DP:GL:GQ 0/1:72,54:87:-159.25,-26.21,-171.14:99 -chr1 4003027 rs7539155 C T 270.27 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=49.52;MQ0=2;OQ=1241.45;QD=15.71;SB=-511.02 GT:AD:DP:GL:GQ 0/1:40,39:77:-150.62,-23.19,-144.23:99 -chr1 4003660 rs34911143 C G 406.63 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.67;MQ0=0;OQ=1137.88;QD=19.96;SB=-593.22 GT:AD:DP:GL:GQ 0/1:26,31:56:-133.94,-16.87,-107.70:99 -chr1 4003790 . T C 0.57 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=1;HaplotypeScore=5.22;MQ=56.08;MQ0=0;OQ=469.98;QD=8.55;SB=-182.54 GT:AD:DP:GL:GQ 0/1:35,20:52:-65.94,-15.66,-138.69:99 -chr1 4003932 rs60522686 C T 104.95 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=60.00;MQ0=0;OQ=1130.00;QD=21.32;SB=-533.08 GT:AD:DP:GL:GQ 0/1:20,33:53:-132.25,-15.97,-67.95:99 -chr1 4004106 rs12036981 T A 126.81 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.38;MQ=56.22;MQ0=2;OQ=519.83;QD=10.19;SB=-138.13 GT:AD:DP:GL:GQ 0/1:29,21:47:-69.43,-14.17,-100.44:99 -chr1 4004617 rs12036953 A G 190.96 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.43;MQ0=0;OQ=561.78;QD=8.64;SB=-245.46 GT:AD:DP:GL:GQ 0/1:41,24:63:-78.44,-18.98,-164.76:99 -chr1 4005149 rs5018354 G T 769.64 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=5;HaplotypeScore=8.12;MQ=53.93;MQ0=0;QD=10.84;SB=-410.03 GT:AD:DP:GL:GQ 0/1:41,30:69:-101.03,-20.78,-142.34:99 -chr1 4005155 . A T 709.63 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=5;HaplotypeScore=11.69;MQ=54.09;MQ0=0;QD=10.28;SB=-304.00 GT:AD:DP:GL:GQ 0/1:43,26:65:-93.83,-19.58,-142.00:99 -chr1 4005156 . A T 576.66 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=13.11;MQ=54.00;MQ0=0;QD=8.48;SB=-291.97 GT:AD:DP:GL:GQ 0/1:44,24:63:-79.93,-18.98,-151.00:99 -chr1 4005449 rs34905442 A G 30.08 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=5.92;MQ=57.79;MQ0=0;OQ=842.19;QD=15.89;SB=-428.92 GT:AD:DP:GL:GQ 0/1:23,30:52:-103.18,-15.68,-83.89:99 -chr1 4010416 rs55645535 A G 3.25 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=3;HaplotypeScore=0.83;MQ=58.64;MQ0=0;OQ=504.55;QD=16.28;SB=-163.34 GT:AD:DP:GL:GQ 0/1:10,21:29:-62.49,-8.75,-36.79:99 -chr1 4012539 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=20;HaplotypeScore=3.78;MQ=46.27;MQ0=3;OQ=496.42;QD=5.23;SB=131.33 GT:AD:DP:GL:GQ 0/1:70,25:77:-76.14,-23.22,-185.60:99 -chr1 4012545 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=7;HaplotypeScore=6.81;MQ=48.30;MQ0=1;OQ=296.48;QD=3.12;SB=125.35 GT:AD:DP:GL:GQ 0/1:68,26:74:-55.23,-22.30,-199.64:99 -chr1 4015436 rs10799171 T C 582.11 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.51;MQ0=0;OQ=1395.24;QD=29.69;SB=-603.59 GT:AD:DP:GL:GQ 1/1:0,47:45:-143.16,-13.58,-0.05:99 -chr1 4015788 rs6426377 G C 79.87 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=58.24;MQ0=0;OQ=2118.03;QD=39.96;SB=-1018.28 GT:AD:DP:GL:GQ 1/1:0,53:49:-215.40,-14.76,-0.01:99 -chr1 4016464 rs3856168 T C 206.69 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.45;MQ=58.60;MQ0=0;OQ=1420.67;QD=28.41;SB=-682.89 GT:AD:DP:GL:GQ 1/1:0,50:45:-145.69,-13.57,-0.04:99 -chr1 4017003 rs4654403 T C 46.24 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=2.69;MQ=59.61;MQ0=0;OQ=1716.77;QD=29.10;SB=-823.60 GT:AD:DP:GL:GQ 1/1:0,59:55:-175.31,-16.59,-0.05:99 -chr1 4017098 rs4654404 C T 8.35 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=4.56;MQ=58.64;MQ0=0;OQ=1853.34;QD=38.61;SB=-777.68 GT:AD:DP:GL:GQ 1/1:0,48:47:-188.93,-14.16,-0.01:99 -chr1 4018431 rs4654475 T C 39.68 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=0.73;MQ=59.54;MQ0=0;OQ=1443.50;QD=28.87;SB=-682.71 GT:AD:DP:GL:GQ 1/1:0,50:46:-147.99,-13.88,-0.05:99 -chr1 4018760 rs7419106 C G 402.81 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.25;MQ0=0;OQ=1082.64;QD=34.92;SB=-389.10 GT:AD:DP:GL:GQ 1/1:0,31:28:-111.87,-8.45,-0.02:84.27 -chr1 4018847 rs10799175 T C 20.86 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=0;HaplotypeScore=4.16;MQ=58.50;MQ0=0;OQ=814.89;QD=26.29;SB=-376.57 GT:AD:DP:GL:GQ 1/1:1,29:28:-88.39,-10.61,-3.32:72.94 -chr1 4019483 rs10799177 G A 473.58 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.36;MQ0=0;OQ=1615.08;QD=33.65;SB=-313.91 GT:AD:DP:GL:GQ 1/1:0,48:42:-165.11,-12.66,-0.02:99 -chr1 4019522 rs9792946 G A 281.35 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=54.50;MQ0=0;OQ=2603.69;QD=38.29;SB=-1110.00 GT:AD:DP:GL:GQ 1/1:0,68:66:-263.98,-19.89,-0.02:99 -chr1 4019590 rs7418034 G A 135.96 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.67;MQ=43.49;MQ0=0;OQ=1841.94;QD=30.70;SB=-845.46 GT:AD:DP:GL:GQ 1/1:0,59:50:-190.21,-17.45,-2.43:99 -chr1 4019593 rs7412152 A C 123.30 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.67;MQ=42.41;MQ0=0;OQ=1763.32;QD=29.89;SB=-853.08 GT:AD:DP:GL:GQ 1/1:0,59:51:-179.93,-15.36,-0.02:99 -chr1 4019614 rs7411249 C G 15.77 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=3.88;MQ=36.55;MQ0=1;OQ=1713.38;QD=32.33;SB=-801.51 GT:AD:DP:GL:GQ 1/1:0,53:41:-174.94,-12.36,-0.02:99 -chr1 4019841 rs7412217 A G 301.34 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=36.34;MQ0=0;OQ=1308.64;QD=29.08;SB=-633.25 GT:AD:DP:GL:GQ 1/1:0,45:37:-134.46,-11.14,-0.01:99 -chr1 4019863 rs4310408 A G 15.48 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=44.42;MQ0=0;OQ=1396.45;QD=30.36;SB=-620.23 GT:AD:DP:GL:GQ 1/1:0,46:40:-143.25,-12.05,-0.02:99 -chr1 4019987 rs10737398 C T 456.73 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=45.86;MQ0=6;OQ=1422.85;QD=30.93;SB=-467.35 GT:AD:DP:GL:GQ 1/1:0,46:37:-145.88,-11.15,-0.01:99 -chr1 4020055 rs7411353 C A 1052.58 Indel;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=9;HaplotypeScore=6.69;MQ=42.23;MQ0=1;QD=22.40;SB=-302.56 GT:AD:DP:GL:GQ 1/1:0,47:31:-108.85,-9.34,-0.01:93.27 -chr1 4020059 . T A 16.07 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=4;HaplotypeScore=6.64;MQ=40.62;MQ0=1;QD=0.41;SB=14.07 GT:AD:DP:GL:GQ 0/1:27,12:17:-10.01,-5.13,-48.93:48.79 -chr1 4020065 rs6426379 G C 834.47 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=40.47;MQ0=0;QD=30.91;SB=-369.17 GT:AD:DP:GL:GQ 1/1:1,26:20:-87.04,-6.03,-0.01:60.20 -chr1 4020216 rs6426380 C T 178.01 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=56.52;MQ0=0;OQ=2286.70;QD=38.76;SB=-938.24 GT:AD:DP:GL:GQ 1/1:0,59:59:-232.28,-17.78,-0.03:99 -chr1 4020359 rs4233255 T A 506.79 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=50.30;MQ0=1;OQ=1405.72;QD=30.56;SB=-629.64 GT:AD:DP:GL:GQ 1/1:0,46:40:-144.18,-12.05,-0.02:99 -chr1 4020451 rs4654476 A G 27.72 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=59.11;MQ0=0;OQ=1489.65;QD=28.65;SB=-689.96 GT:AD:DP:GL:GQ 1/1:0,52:47:-152.59,-14.18,-0.04:99 -chr1 4020454 rs4654477 T C 48.40 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.13;MQ=59.54;MQ0=0;OQ=1536.11;QD=30.72;SB=-613.94 GT:AD:DP:GL:GQ 1/1:0,50:48:-157.24,-14.48,-0.04:99 -chr1 4020656 rs4233256 A C 90.34 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=59.09;MQ0=0;OQ=1344.37;QD=29.23;SB=-633.78 GT:AD:DP:GL:GQ 1/1:0,46:45:-138.07,-13.57,-0.05:99 -chr1 4020738 rs4233257 G A 285.07 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=56.81;MQ0=0;OQ=1954.21;QD=35.53;SB=-857.02 GT:AD:DP:GL:GQ 1/1:0,55:50:-199.02,-15.06,-0.01:99 -chr1 4020758 rs4233258 T C 590.90 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.92;MQ0=0;OQ=1509.42;QD=29.03;SB=-773.63 GT:AD:DP:GL:GQ 1/1:0,52:49:-154.57,-14.78,-0.05:99 -chr1 4020965 rs10915373 A G 41.68 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=3.05;MQ=59.15;MQ0=0;OQ=2124.75;QD=32.19;SB=-981.05 GT:AD:DP:GL:GQ 1/1:0,66:61:-216.09,-18.38,-0.03:99 -chr1 4021209 rs12087801 A G 66.82 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=1.20;MQ=59.44;MQ0=0;OQ=1399.12;QD=34.12;SB=-653.32 GT:AD:DP:GL:GQ 1/1:0,41:40:-143.51,-12.05,-0.01:99 -chr1 4021244 rs7524590 A G 21.98 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.56;MQ0=0;OQ=1518.93;QD=29.21;SB=-554.05 GT:AD:DP:GL:GQ 1/1:0,52:47:-155.52,-14.17,-0.04:99 -chr1 4021467 rs6426381 T C 70.46 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=57.82;MQ0=0;OQ=1271.75;QD=29.58;SB=-623.00 GT:AD:DP:GL:GQ 1/1:0,43:40:-130.79,-12.06,-0.03:99 -chr1 4021470 rs6665286 C T 565.39 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.82;MQ0=0;OQ=1632.61;QD=37.97;SB=-837.35 GT:AD:DP:GL:GQ 1/1:0,43:42:-166.86,-12.66,-0.02:99 -chr1 4021576 rs10799179 C T 140.80 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=59.60;MQ0=0;OQ=2105.87;QD=36.95;SB=-1023.68 GT:AD:DP:GL:GQ 1/1:0,57:54:-214.19,-16.27,-0.02:99 -chr1 4022324 rs10799180 T C 96.83 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=1478.38;QD=30.80;SB=-697.61 GT:AD:DP:GL:GQ 1/1:0,48:47:-151.47,-14.18,-0.04:99 -chr1 4023064 rs12044274 A T 27.33 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=58.00;MQ0=0;OQ=1175.00;QD=33.57;SB=-370.25 GT:AD:DP:GL:GQ 1/1:0,34:33:-121.10,-9.94,-0.02:99 -chr1 4023346 rs12728781 C T 64.59 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=1.58;MQ=58.67;MQ0=0;OQ=1081.51;QD=30.90;SB=-492.01 GT:AD:DP:GL:GQ 1/1:1,34:29:-111.75,-8.74,-0.01:87.27 -chr1 4023709 rs10915381 G C 0.23 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=3;HaplotypeScore=3.44;MQ=58.92;MQ0=0;OQ=2348.10;QD=41.93;SB=-727.93 GT:AD:DP:GL:GQ 1/1:0,56:54:-238.42,-16.28,-0.02:99 -chr1 4024015 rs6672626 C T 663.95 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=46.30;MQ0=0;OQ=1764.84;QD=37.55;SB=-805.32 GT:AD:DP:GL:GQ 1/1:0,47:46:-180.09,-13.86,-0.02:99 -chr1 4024120 rs6672716 C T 182.48 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=36.16;MQ0=0;OQ=1966.97;QD=37.83;SB=-833.61 GT:AD:DP:GL:GQ 1/1:0,51:51:-203.16,-18.10,-2.88:99 -chr1 4024270 . T A 112.05 Indel AC=1;AF=0.50;AN=2;DP=33;Dels=0.03;HRun=0;HaplotypeScore=2.93;MQ=35.48;MQ0=0;QD=3.40;SB=-51.99 GT:AD:DP:GL:GQ 0/1:21,11:28:-22.63,-8.14,-76.45:99 -chr1 4024272 . A T 86.10 Indel AC=1;AF=0.50;AN=2;DP=34;Dels=0.03;HRun=0;HaplotypeScore=5.09;MQ=34.14;MQ0=0;QD=2.53;SB=-27.82 GT:AD:DP:GL:GQ 0/1:23,10:27:-19.73,-7.83,-71.54:99 -chr1 4024295 rs6683289 T C 432.26 Indel;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=27.02;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,16:16:-46.84,-4.84,-0.03:48.07 -chr1 4024297 rs6665849 G C 696.90 Indel;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=43.56;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,16:16:-73.28,-4.82,-0.00:48.16 -chr1 4024305 . T C 154.38 Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=22;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=7.02;SB=-40.68 GT:AD:DP:GL:GQ 0/1:15,7:22:-25.35,-6.63,-60.61:99 -chr1 4024357 . T G 116.82 Indel AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=1.03;MQ=28.57;MQ0=0;QD=4.67;SB=-30.96 GT:AD:DP:GL:GQ 0/1:17,8:23:-21.89,-6.93,-59.79:99 -chr1 4024403 . G T 1246.60 Indel AC=2;AF=1.00;AN=2;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=28.45;MQ0=0;QD=33.69;SB=-622.14 GT:AD:DP:GL:GQ 1/1:0,37:35:-128.26,-10.54,-0.01:99 -chr1 4024413 . C T 38.79 Indel;LowQual AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=14.98;MQ=32.72;MQ0=0;QD=0.90;SB=-26.14 GT:AD:DP:GL:GQ 0/1:37,6:40:-19.21,-12.05,-127.12:71.63 -chr1 4024463 . G C 836.03 Indel AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=5.63;MQ=36.44;MQ0=0;QD=16.39;SB=-259.21 GT:AD:DP:GL:GQ 0/1:27,24:51:-102.25,-15.37,-114.08:99 -chr1 4024467 . C T 697.56 Indel AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=1;HaplotypeScore=4.47;MQ=36.57;MQ0=0;QD=13.95;SB=-194.79 GT:AD:DP:GL:GQ 0/1:28,22:49:-87.80,-14.76,-98.23:99 -chr1 4024517 rs28542205 C G 1129.16 Indel AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=18.36;MQ=32.35;MQ0=0;QD=26.26;SB=-522.33 GT:AD:DP:GL:GQ 0/1:8,31:35:-126.75,-10.55,-27.16:99 -chr1 4024521 . G C 975.12 Indel AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=18.89;MQ=30.36;MQ0=0;QD=23.78;SB=-491.19 GT:AD:DP:GL:GQ 0/1:9,27:35:-115.01,-14.21,-36.24:99 -chr1 4024603 . G C 2.26 PASS AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=24.41;MQ0=0;OQ=50.98;QD=5.66;SB=-6.99 GT:AD:DP:GL:GQ 0/1:1,8:3:-9.29,-0.90,-4.69:37.89 -chr1 4024673 . T C 8.19 PASS AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=30.71;MQ0=0;OQ=656.07;QD=31.24;SB=-288.45 GT:AD:DP:GL:GQ 1/1:0,21:20:-69.20,-6.03,-0.01:60.17 -chr1 4024788 . T C 850.29 Indel AC=2;AF=1.00;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=32.58;MQ0=0;QD=34.01;SB=-338.76 GT:AD:DP:GL:GQ 1/1:0,25:25:-88.63,-7.53,-0.01:75.20 -chr1 4024845 . T G 1.74 PASS AC=1;AF=0.50;AN=2;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=68.85;QD=17.21;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,3:4:-11.37,-1.20,-3.44:22.35 -chr1 4024894 . T C 62.45 Indel AC=1;AF=0.50;AN=2;DP=5;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=29.00;MQ0=0;QD=12.49;SB=-41.94 GT:AD:DP:GL:GQ 0/1:2,3:4:-10.73,-1.20,-4.27:30.63 -chr1 4024923 . G A 22.24 Indel;LowQual AC=1;AF=0.50;AN=2;DP=8;Dels=0.25;HRun=0;HaplotypeScore=23.92;MQ=29.00;MQ0=0;QD=2.78;SB=-0.97 GT:AD:DP:GL:GQ 0/1:4,2:6:-7.31,-1.81,-14.76:55.05 -chr1 4024936 . T G 14.90 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=16;Dels=0.06;HRun=0;HaplotypeScore=31.98;MQ=29.00;MQ0=0;QD=0.93;SB=4.38 GT:AD:DP:GL:GQ 0/1:12,2:8:-11.00,-6.24,-20.74:47.59 -chr1 4024944 . C T 21.22 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=58.95;MQ=29.00;MQ0=0;QD=1.25;SB=8.05 GT:AD:DP:GL:GQ 0/1:15,2:9:-8.11,-2.71,-25.25:54.02 -chr1 4024945 . A T 15.01 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=58.95;MQ=29.00;MQ0=0;QD=0.88;SB=8.04 GT:AD:DP:GL:GQ 0/1:13,4:9:-7.48,-2.71,-24.43:47.70 -chr1 4024946 . C T 97.28 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=17;Dels=0.00;HRun=0;HaplotypeScore=64.95;MQ=29.00;MQ0=0;QD=5.72;SB=8.05 GT:AD:DP:GL:GQ 0/1:13,4:11:-16.32,-3.31,-25.25:99 -chr1 4024979 . C T 611.81 Indel;SnpCluster AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;HRun=0;HaplotypeScore=6.71;MQ=29.00;MQ0=0;QD=33.99;SB=-293.67 GT:AD:DP:GL:GQ 1/1:0,16:16:-64.77,-4.82,-0.00:48.16 -chr1 4024982 . T G 173 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=0;HaplotypeScore=11.86;MQ=29.00;MQ0=0;QD=9.11;SB=14.07 GT:AD:DP:GL:GQ 0/1:10,7:16:-25.40,-4.82,-33.30:99 -chr1 4024983 . C T 250.37 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=1;HaplotypeScore=11.86;MQ=29.00;MQ0=0;QD=13.18;SB=14.06 GT:AD:DP:GL:GQ 0/1:11,8:16:-33.14,-4.82,-27.15:99 -chr1 4025014 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=2;HaplotypeScore=18.19;MQ=29.00;MQ0=0;OQ=197.67;QD=9.88;SB=17.08 GT:AD:DP:GL:GQ 0/1:13,7:18:-28.47,-5.42,-39.21:99 -chr1 4025033 . G A 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=9.30;MQ=27.51;MQ0=1;OQ=89.74;QD=8.97;SB=2.03 GT:AD:DP:GL:GQ 0/1:5,5:9:-14.97,-2.71,-16.97:99 -chr1 4025048 . C T 21.22 DPFilter;Indel;LowQual AC=1;AF=0.50;AN=2;DP=10;Dels=0.00;HRun=1;HaplotypeScore=32.62;MQ=27.51;MQ0=1;QD=2.12;SB=2.04 GT:AD:DP:GL:GQ 0/1:8,2:9:-8.11,-2.71,-25.19:54.03 -chr1 4025070 . G A 35.48 LowQual AC=1;AF=0.50;AN=2;DP=4;Dels=0.00;HRun=1;HaplotypeScore=6.00;MQ=29.00;MQ0=0;QD=8.87;SB=-6.99 GT:AD:DP:GL:GQ 0/1:2,2:3:-7.73,-0.90,-3.47:25.65 -chr1 4025144 . C T 71.12 Indel AC=1;AF=0.50;AN=2;DP=8;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=8.89;SB=-10.00 GT:AD:DP:GL:GQ 0/1:2,6:5:-11.90,-1.51,-7.69:61.87 -chr1 4025168 . G C 48.97 LowQual AC=1;AF=0.50;AN=2;DP=7;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=29.00;MQ0=0;QD=7.00;SB=-10.00 GT:AD:DP:GL:GQ 0/1:2,5:4:-9.39,-1.21,-8.09:68.89 -chr1 4025186 . C T 0.12 PASS AC=1;AF=0.50;AN=2;DP=4;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=78.13;QD=19.53;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,3:4:-12.30,-1.20,-3.90:26.92 -chr1 4025245 . C T 49.25 LowQual;SnpCluster AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=23.68;MQ0=1;QD=16.42;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,2:2:-8.33,-0.60,-0.00:6.02 -chr1 4025247 . G C 137.89 SnpCluster AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=25.94;MQ0=1;QD=27.58;SB=-52.47 GT:AD:DP:GL:GQ 1/1:1,4:4:-17.32,-1.21,-0.00:12.04 -chr1 4025253 . T C 341.02 SnpCluster AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=26.68;MQ0=2;QD=26.23;SB=-182.78 GT:AD:DP:GL:GQ 1/1:1,12:11:-37.69,-3.31,-0.01:33.09 -chr1 4025355 . C T 528.21 SnpCluster AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=33.01;SB=-144.72 GT:AD:DP:GL:GQ 1/1:1,15:16:-59.68,-4.82,-3.30:15.20 -chr1 4025359 . T C 305.09 SnpCluster AC=1;AF=0.50;AN=2;DP=13;Dels=0.00;HRun=0;HaplotypeScore=0.49;MQ=29.00;MQ0=0;QD=23.47;SB=-70.88 GT:AD:DP:GL:GQ 0/1:2,11:13:-37.71,-3.92,-7.64:37.23 -chr1 4025364 . T A 90.08 SnpCluster AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=29.00;MQ0=0;QD=18.02;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,3:3:-12.50,-0.90,-0.00:9.03 -chr1 4025431 . G C 10.49 LowQual AC=1;AF=0.50;AN=2;DP=1;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=10.49;SB=-10.00 GT:AD:DP:GL:GQ 0/1:0,1:1:-4.29,-0.30,-0.00:1.76 -chr1 4025466 . T C 25.23 LowQual AC=1;AF=0.50;AN=2;DP=3;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=29.00;MQ0=0;QD=8.41;SB=-10.00 GT:AD:DP:GL:GQ 0/1:0,2:3:-9.75,-4.24,-3.95:1.79 -chr1 4025523 . A C 21.19 LowQual AC=1;AF=0.50;AN=2;DP=5;Dels=0.00;HRun=1;HaplotypeScore=4.30;MQ=29.00;MQ0=0;QD=4.24;SB=-10.00 GT:AD:DP:GL:GQ 0/1:3,2:3:-6.30,-0.90,-3.10:21.92 -chr1 4025542 . T C 37.83 LowQual AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=12.61;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,2:2:-7.19,-0.60,-0.00:6.02 -chr1 4025586 . G C 7.40 PASS AC=1;AF=0.50;AN=2;DP=5;Dels=0.20;HRun=0;HaplotypeScore=2.25;MQ=29.00;MQ0=0;OQ=51.98;QD=10.40;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,3:3:-9.39,-0.90,-3.95:30.43 -chr1 4025618 . C T 7.86 PASS AC=2;AF=1.00;AN=2;DP=7;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=29.00;MQ0=0;OQ=87.13;QD=12.45;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,5:3:-12.20,-0.90,-0.00:9.03 -chr1 4025642 . T C 158.22 Indel AC=2;AF=1.00;AN=2;DP=5;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=31.64;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,5:5:-19.38,-1.51,-0.00:15.05 -chr1 4025697 . A T 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=5;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=29.00;MQ0=0;OQ=113.07;QD=22.61;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,4:5:-16.09,-1.51,-3.64:21.34 -chr1 4025746 . T G 32.28 LowQual AC=1;AF=0.50;AN=2;DP=5;Dels=0.00;HRun=0;HaplotypeScore=3.93;MQ=23.71;MQ0=1;QD=6.46;SB=-10.00 GT:AD:DP:GL:GQ 0/1:2,2:3:-7.41,-0.90,-3.74:28.36 -chr1 4025760 . T C 33.23 LowQual AC=1;AF=0.50;AN=2;DP=4;Dels=0.00;HRun=0;HaplotypeScore=3.00;MQ=26.51;MQ0=0;QD=8.31;SB=-10.00 GT:AD:DP:GL:GQ 0/1:1,2:3:-10.45,-4.14,-3.85:1.79 -chr1 4026171 . A T 209.87 Indel AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=25.28;MQ0=0;QD=14.99;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,9:8:-26.67,-2.41,-4.00:15.91 -chr1 4026180 . C G 33.92 Indel;LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=25.28;MQ0=0;QD=2.42;SB=-10.00 GT:AD:DP:GL:GQ 0/1:9,5:9:-9.39,-2.71,-29.13:66.75 -chr1 4026184 . C T 21.22 LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=25.28;MQ0=0;QD=1.52;SB=-10.00 GT:AD:DP:GL:GQ 0/1:9,5:9:-8.11,-2.71,-25.08:54.02 -chr1 4026206 . C G 51.98 Indel AC=1;AF=0.50;AN=2;DP=7;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=22.01;MQ0=1;QD=7.43;SB=-10.00 GT:AD:DP:GL:GQ 0/1:2,5:3:-9.39,-0.90,-4.15:32.44 -chr1 4026210 . G C 48.85 LowQual AC=2;AF=1.00;AN=2;DP=6;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=20.61;MQ0=1;QD=8.14;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,5:2:-8.29,-0.60,-0.00:6.02 -chr1 4026326 . G C 28.47 Indel;LowQual AC=1;AF=0.50;AN=2;DP=15;Dels=0.00;HRun=0;HaplotypeScore=22.92;MQ=30.24;MQ0=0;QD=1.90;SB=-27.39 GT:AD:DP:GL:GQ 0/1:8,6:9:-8.84,-2.71,-32.55:61.30 -chr1 4026330 . C T 15.30 Indel;LowQual AC=1;AF=0.50;AN=2;DP=16;Dels=0.00;HRun=1;HaplotypeScore=20.94;MQ=33.42;MQ0=0;QD=0.96;SB=-6.99 GT:AD:DP:GL:GQ 0/1:14,2:11:-8.11,-3.31,-31.44:48.01 -chr1 4026341 . A T 151.96 Indel AC=1;AF=0.50;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=32.82;MQ=37.84;MQ0=1;QD=7.24;SB=-45.98 GT:AD:DP:GL:GQ 0/1:14,7:14:-22.70,-4.22,-31.99:99 -chr1 4026383 . A G 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=27.11;MQ=37.86;MQ0=1;OQ=685.36;QD=14.58;SB=-116.05 GT:AD:DP:GL:GQ 1/1:7,40:26:-76.32,-7.85,-4.20:36.49 -chr1 4026434 . C G 29.02 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=38.33;MQ0=0;QD=0.81;SB=5.05 GT:AD:DP:GL:GQ 0/1:34,2:8:-8.60,-2.41,-25.63:61.85 -chr1 4026435 . A T 728.54 SnpCluster AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=38.33;MQ0=0;QD=20.24;SB=-50.99 GT:AD:DP:GL:GQ 1/1:2,34:20:-76.44,-6.02,-0.00:60.19 -chr1 4026437 . T A 762.24 SnpCluster AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=38.33;MQ0=0;QD=21.17;SB=-46.39 GT:AD:DP:GL:GQ 1/1:2,34:20:-79.81,-6.02,-0.00:60.20 -chr1 4026440 . T G 564.23 SnpCluster AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=36.87;MQ0=0;QD=17.10;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,31:17:-60.01,-5.12,-0.00:51.15 -chr1 4026444 . C G 41.07 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=34.30;MQ0=1;QD=1.28;SB=-6.99 GT:AD:DP:GL:GQ 0/1:30,2:3:-8.29,-0.90,-4.25:33.44 -chr1 4026449 . A T 483.60 SnpCluster AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=34.81;MQ0=1;QD=16.68;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,29:14:-51.95,-4.22,-0.00:42.13 -chr1 4026483 . G A 173.76 Indel AC=2;AF=1.00;AN=2;DP=7;Dels=0.14;HRun=0;HaplotypeScore=0.00;MQ=25.96;MQ0=0;QD=24.82;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,6:5:-20.94,-1.51,-0.00:15.05 -chr1 4026581 . T C 45.31 PASS AC=2;AF=1.00;AN=2;DP=4;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=26.51;MQ0=0;OQ=56.13;QD=14.03;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,4:3:-9.11,-0.91,-0.01:9 -chr1 4026636 . T A 64.25 PASS AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=32.75;MQ0=0;OQ=1092.89;QD=35.25;SB=-113.17 GT:AD:DP:GL:GQ 1/1:0,31:29:-112.88,-8.73,-0.01:87.28 -chr1 4026761 . T A 283.60 PASS AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=39.63;MQ0=0;OQ=910.42;QD=32.51;SB=-440.82 GT:AD:DP:GL:GQ 1/1:0,28:25:-94.63,-7.53,-0.01:75.24 -chr1 4026798 . G C 10.99 LowQual AC=1;AF=0.50;AN=2;DP=5;Dels=0.00;HRun=0;HaplotypeScore=12.99;MQ=22.58;MQ0=0;QD=2.20;SB=-10.00 GT:AD:DP:GL:GQ 0/1:2,3:1:-4.35,-0.30,-0.00:1.76 -chr1 4026914 . T C 49.44 PASS AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=36.57;MQ0=0;OQ=246.59;QD=24.66;SB=-150.73 GT:AD:DP:GL:GQ 1/1:0,10:9:-28.25,-2.72,-0.01:27.05 -chr1 4026927 . A T 206.91 PASS AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=36.61;MQ0=0;OQ=634.07;QD=30.19;SB=-308.12 GT:AD:DP:GL:GQ 1/1:0,21:18:-67.00,-5.42,-0.01:54.16 -chr1 4027026 . C T 64.95 Indel AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=32.20;MQ0=1;QD=1.71;SB=-49.74 GT:AD:DP:GL:GQ 0/1:32,6:37:-20.92,-11.15,-115.91:97.79 -chr1 4027042 . T C 614.97 Indel AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=29.00;MQ0=0;QD=27.95;SB=-154.73 GT:AD:DP:GL:GQ 1/1:0,22:21:-65.11,-6.34,-0.03:63.13 -chr1 4027052 . T C 696.49 Indel AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=29.00;MQ0=0;QD=34.82;SB=-114.05 GT:AD:DP:GL:GQ 1/1:0,20:20:-73.24,-6.03,-0.01:60.18 -chr1 4027210 . G C 19.50 Indel;LowQual AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=26.88;MQ0=0;QD=1.39;SB=-27.39 GT:AD:DP:GL:GQ 0/1:12,2:10:-8.24,-3.01,-36.19:52.28 -chr1 4027332 . C G 36.70 PASS AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=36.49;MQ0=0;OQ=1976.71;QD=43.93;SB=-544.06 GT:AD:DP:GL:GQ 1/1:0,45:45:-201.27,-13.56,-0.01:99 -chr1 4027338 . T C 290.59 PASS AC=2;AF=1.00;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=36.34;MQ0=0;OQ=1625.12;QD=35.33;SB=-497.48 GT:AD:DP:GL:GQ 1/1:0,46:46:-166.11,-13.85,-0.01:99 -chr1 4027382 rs4654478 T C 529.46 Indel AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=8.99;MQ=33.88;MQ0=0;QD=11.77;SB=-150.80 GT:AD:DP:GL:GQ 0/1:25,20:45:-69.78,-13.55,-102.60:99 -chr1 4027391 . A T 124.12 Indel AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=29.00;MQ0=0;QD=3.18;SB=-45.98 GT:AD:DP:GL:GQ 0/1:32,7:37:-26.84,-11.14,-119.06:99 -chr1 4027395 . T A 21.79 Indel;LowQual AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=29.00;MQ0=0;QD=0.61;SB=-10.00 GT:AD:DP:GL:GQ 0/1:32,4:36:-16.30,-10.84,-120.25:54.60 -chr1 4027428 rs4654405 C A 54.82 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=29.00;MQ0=0;OQ=1067.75;QD=35.59;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,30:30:-110.36,-9.03,-0.00:90.28 -chr1 4027512 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=38;Dels=0.03;HRun=0;HaplotypeScore=41.12;MQ=30.70;MQ0=0;OQ=583.71;QD=15.36;SB=-96.83 GT:AD:DP:GL:GQ 0/1:11,26:29:-70.09,-8.44,-49.32:99 -chr1 4027516 . C G 4.55 PASS AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=0;HaplotypeScore=2.16;MQ=30.66;MQ0=0;OQ=294.17;QD=7.54;SB=2.04 GT:AD:DP:GL:GQ 0/1:30,9:29:-41.44,-8.74,-84.22:99 -chr1 4027660 rs4654407 G A 193.14 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=42.76;MQ0=0;OQ=2435.59;QD=39.28;SB=-760.64 GT:AD:DP:GL:GQ 1/1:0,62:62:-247.16,-18.68,-0.02:99 -chr1 4027721 rs4654408 C T 529.60 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=43.67;MQ0=0;OQ=1726.14;QD=39.23;SB=-623.32 GT:AD:DP:GL:GQ 1/1:0,44:43:-176.21,-12.95,-0.01:99 -chr1 4027907 rs4654409 G A 268.91 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=56.85;MQ0=0;OQ=2188.75;QD=36.48;SB=-1120.98 GT:AD:DP:GL:GQ 1/1:0,60:57:-222.49,-17.18,-0.03:99 -chr1 4028014 rs10915398 T C 85.36 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.65;MQ0=0;OQ=1826.56;QD=33.83;SB=-678.24 GT:AD:DP:GL:GQ 1/1:0,54:52:-186.26,-15.66,-0.02:99 -chr1 4028230 rs10753357 A C 280.70 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=59.61;MQ0=0;OQ=1933.90;QD=32.78;SB=-901.67 GT:AD:DP:GL:GQ 1/1:0,59:56:-196.99,-16.87,-0.02:99 -chr1 4028383 rs10753358 C A 101.29 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.00;HRun=2;HaplotypeScore=0.96;MQ=59.50;MQ0=0;OQ=3292.23;QD=35.40;SB=-1450.96 GT:AD:DP:GL:GQ 1/1:0,93:90:-328.22,-27.11,-0.03:99 -chr1 4028555 rs10915400 C T 609.81 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.67;MQ0=0;OQ=2231.72;QD=39.15;SB=-1113.00 GT:AD:DP:GL:GQ 1/1:0,57:57:-226.78,-17.18,-0.02:99 -chr1 4028627 rs11586513 G A 570.71 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2205.25;QD=39.38;SB=-957.37 GT:AD:DP:GL:GQ 1/1:0,56:55:-224.12,-16.57,-0.01:99 -chr1 4029107 rs17404781 C A 590.07 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.74;MQ0=0;OQ=2642.82;QD=36.71;SB=-848.25 GT:AD:DP:GL:GQ 1/1:0,72:72:-267.88,-21.68,-0.02:99 -chr1 4029794 rs4603097 A G 153.18 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=60.00;MQ0=0;OQ=2799.69;QD=36.36;SB=-819.68 GT:AD:DP:GL:GQ 1/1:1,76:76:-283.57,-22.89,-0.02:99 -chr1 4030208 rs4130940 A G 693.73 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3003.68;QD=34.53;SB=-1360.53 GT:AD:DP:GL:GQ 1/1:0,87:86:-303.98,-25.91,-0.03:99 -chr1 4030429 rs4130941 T C 169.61 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=60.00;MQ0=0;OQ=3432.78;QD=35.76;SB=-1689.36 GT:AD:DP:GL:GQ 1/1:0,96:95:-342.28,-28.61,-0.03:99 -chr1 4030544 rs4391636 T C 184.14 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=2626.35;QD=31.27;SB=-1250.03 GT:AD:DP:GL:GQ 1/1:0,84:83:-266.29,-25.03,-0.07:99 -chr1 4030874 rs4262509 T C 686.40 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.25;MQ0=0;OQ=2253.22;QD=36.34;SB=-816.67 GT:AD:DP:GL:GQ 1/1:0,62:62:-228.93,-18.68,-0.02:99 -chr1 4031041 rs4400586 C T 220 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.73;MQ0=0;OQ=2740.70;QD=40.30;SB=-1397.85 GT:AD:DP:GL:GQ 1/1:0,68:68:-277.67,-20.48,-0.01:99 -chr1 4031109 rs7537141 A G 223.55 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=58.69;MQ0=0;OQ=2389.72;QD=33.66;SB=-1060.09 GT:AD:DP:GL:GQ 1/1:0,70:68:-242.58,-20.48,-0.02:99 -chr1 4031170 rs7537236 A G 284.86 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.42;MQ0=0;OQ=1865.29;QD=33.31;SB=-585.57 GT:AD:DP:GL:GQ 1/1:0,56:52:-190.13,-15.66,-0.02:99 -chr1 4031176 rs7537237 A G 151.85 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=58.47;MQ0=0;OQ=1912.22;QD=32.97;SB=-672.55 GT:AD:DP:GL:GQ 1/1:0,58:55:-194.84,-16.57,-0.03:99 -chr1 4031220 rs7532788 C T 294.77 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.01;MQ0=0;OQ=2323.83;QD=38.10;SB=-1060.94 GT:AD:DP:GL:GQ 1/1:0,60:59:-235.99,-17.78,-0.02:99 -chr1 4031586 rs3936238 A G 138.31 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=0.67;MQ=58.69;MQ0=0;OQ=2519.09;QD=35.48;SB=-1162.71 GT:AD:DP:GL:GQ 1/1:0,71:71:-255.52,-21.39,-0.03:99 -chr1 4031878 rs9628649 C T 644.41 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.66;MQ0=0;OQ=2284.52;QD=38.72;SB=-825.09 GT:AD:DP:GL:GQ 1/1:0,59:58:-232.06,-17.48,-0.02:99 -chr1 4031986 rs9628650 G T 130.41 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=0.92;MQ=59.09;MQ0=0;OQ=2689.72;QD=35.39;SB=-1301.17 GT:AD:DP:GL:GQ 1/1:0,75:74:-272.58,-22.29,-0.02:99 -chr1 4032433 rs7529548 G C 483.28 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.36;MQ0=0;OQ=2621.92;QD=40.34;SB=-1086.06 GT:AD:DP:GL:GQ 1/1:0,65:62:-265.80,-18.69,-0.02:99 -chr1 4032637 rs7538658 C T 720.56 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2747.15;QD=39.25;SB=-1233.63 GT:AD:DP:GL:GQ 1/1:0,70:70:-278.33,-21.09,-0.03:99 -chr1 4032742 rs7529853 G C 195.26 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.01;HRun=0;HaplotypeScore=1.43;MQ=59.67;MQ0=0;OQ=2970.07;QD=42.43;SB=-1256.98 GT:AD:DP:GL:GQ 1/1:0,69:70:-300.61,-20.79,-0.02:99 -chr1 4032815 rs10157040 T G 55.91 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=1.79;MQ=60.00;MQ0=0;OQ=2073.63;QD=33.99;SB=-743.38 GT:AD:DP:GL:GQ 1/1:0,61:60:-210.97,-18.07,-0.02:99 -chr1 4032895 rs60405213 A G 332.98 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.57;MQ0=0;OQ=1606.75;QD=29.75;SB=-645.91 GT:AD:DP:GL:GQ 1/1:0,54:50:-164.30,-15.08,-0.04:99 -chr1 4032956 rs10157057 T C 590.98 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.21;MQ0=0;OQ=1852.28;QD=34.95;SB=-804.30 GT:AD:DP:GL:GQ 1/1:0,53:53:-188.83,-15.97,-0.02:99 -chr1 4033505 . A T 38.74 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=20;HaplotypeScore=16.08;MQ=50.01;MQ0=1;QD=0.73;SB=62.20 GT:AD:DP:GL:GQ 0/1:43,10:38:-18.61,-11.45,-119.32:71.58 -chr1 4035925 rs6686087 G A 676.98 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.29;MQ0=0;OQ=1910.92;QD=36.06;SB=-777.68 GT:AD:DP:GL:GQ 1/1:0,53:52:-194.71,-15.68,-0.03:99 -chr1 4036210 rs7553013 A G 89.18 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=60.00;MQ0=0;OQ=1455.02;QD=35.49;SB=-567.89 GT:AD:DP:GL:GQ 1/1:0,41:41:-149.10,-12.35,-0.01:99 -chr1 4037078 rs6671404 G A 595.18 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=49.26;MQ0=0;OQ=2338.43;QD=39.63;SB=-1084.95 GT:AD:DP:GL:GQ 1/1:0,59:59:-237.45,-17.77,-0.02:99 -chr1 4037233 . C T 0.09 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=10.47;MQ=23.53;MQ0=14;OQ=386.45;QD=7.43;SB=-174.70 GT:AD:DP:GL:GQ 0/1:24,28:16:-46.75,-4.82,-13.21:83.85 -chr1 4037300 rs12731949 G A 33.47 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=10.93;MQ=13.10;MQ0=15;QD=0.96;SB=-6.99 GT:AD:DP:GL:GQ 0/1:26,6:3:-7.53,-0.90,-3.57:26.65 -chr1 4037316 . A G 19.58 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=10.60;MQ0=15;QD=0.68;SB=-10.00 GT:AD:DP:GL:GQ 0/1:25,4:3:-6.14,-0.91,-2.76:18.51 -chr1 4037317 rs12747176 C T 33.48 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=4.32;MQ=10.78;MQ0=15;QD=1.20;SB=-10.00 GT:AD:DP:GL:GQ 0/1:25,3:3:-7.53,-0.90,-3.30:23.93 -chr1 4037349 rs55974954 C T 4.01 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=15.25;MQ0=10;OQ=78.13;QD=3.91;SB=-10.00 GT:AD:DP:GL:GQ 0/1:11,9:5:-12.60,-1.51,-5.79:42.85 -chr1 4037373 . C T 49.25 HARD_TO_VALIDATE;LowQual;SnpCluster AC=2;AF=1.00;AN=2;DP=23;Dels=0.09;HRun=0;HaplotypeScore=5.10;MQ=12.43;MQ0=14;QD=2.14;SB=-10.00 GT:AD:DP:GL:GQ 1/1:17,4:2:-8.33,-0.60,-0.00:6.02 -chr1 4037374 rs58910132 A G 67.17 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.10;HRun=0;HaplotypeScore=2.46;MQ=12.64;MQ0=13;QD=3.20;SB=-10.00 GT:AD:DP:GL:GQ 1/1:14,5:3:-10.21,-0.90,-0.00:9.03 -chr1 4037375 . C T 89.13 HARD_TO_VALIDATE;SnpCluster AC=2;AF=1.00;AN=2;DP=21;Dels=0.10;HRun=0;HaplotypeScore=2.62;MQ=12.64;MQ0=13;QD=4.24;SB=-10.00 GT:AD:DP:GL:GQ 1/1:14,5:3:-12.40,-0.90,-0.00:9.03 -chr1 4037523 . C T 36.25 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=8.14;MQ=8.07;MQ0=27;QD=0.91;SB=-10.00 GT:AD:DP:GL:GQ 0/1:35,5:3:-7.81,-0.90,-3.47:25.65 -chr1 4037532 . G A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=7.98;MQ=8.93;MQ0=30;OQ=75.12;QD=1.67;SB=-10.00 GT:AD:DP:GL:GQ 0/1:32,13:5:-12.30,-1.51,-6.19:46.86 -chr1 4037589 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=0;HaplotypeScore=30.55;MQ=12.67;MQ0=42;OQ=141.32;QD=1.74;SB=-10.00 GT:AD:DP:GL:GQ 0/1:62,18:18:-22.84,-5.42,-40.02:99 -chr1 4037590 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=84;Dels=0.00;HRun=0;HaplotypeScore=31.66;MQ=13.12;MQ0=42;OQ=99.34;QD=1.18;SB=-10.00 GT:AD:DP:GL:GQ 0/1:65,14:18:-18.65,-5.43,-43.06:99 -chr1 4037755 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=1;HaplotypeScore=10.80;MQ=28.57;MQ0=9;OQ=123.11;QD=4.25;SB=-10.00 GT:AD:DP:GL:GQ 0/1:16,13:15:-20.11,-4.52,-34.90:99 -chr1 4037764 . G A 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=11.39;MQ=27.02;MQ0=10;OQ=406.03;QD=10.68;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,21:18:-49.31,-5.43,-18.48:99 -chr1 4037797 . G A 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=82;Dels=0.00;HRun=1;HaplotypeScore=2.36;MQ=25.37;MQ0=16;OQ=242.41;QD=2.96;SB=-0.99 GT:AD:DP:GL:GQ 0/1:69,13:49:-42.29,-14.76,-143.27:99 -chr1 4037813 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=1;HaplotypeScore=30.43;MQ=23.50;MQ0=19;OQ=796.43;QD=8.38;SB=2.04 GT:AD:DP:GL:GQ 0/1:48,46:55:-99.50,-16.57,-97.10:99 -chr1 4037822 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=126;Dels=0.00;HRun=0;HaplotypeScore=35.10;MQ=23.24;MQ0=31;OQ=606.69;QD=4.81;SB=-57.33 GT:AD:DP:GL:GQ 0/1:70,54:63:-82.95,-19.00,-147.74:99 -chr1 4037843 rs61768802 C A 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=180;Dels=0.00;HRun=1;HaplotypeScore=17.92;MQ=21.78;MQ0=58;OQ=417.65;QD=2.32;SB=-34.91 GT:AD:DP:GL:GQ 0/1:148,32:87:-71.25,-26.21,-246.67:99 -chr1 4037880 rs61768803 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=196;Dels=0.00;HRun=0;HaplotypeScore=29.31;MQ=22.28;MQ0=61;OQ=120.84;QD=0.62;SB=11.02 GT:AD:DP:GL:GQ 0/1:165,26:69:-36.22,-20.85,-175.88:99 -chr1 4037929 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=1;HaplotypeScore=2.77;MQ=21.90;MQ0=34;OQ=107.87;QD=1.14;SB=35.15 GT:AD:DP:GL:GQ 0/1:76,17:46:-27.95,-13.88,-137.64:99 -chr1 4037943 . C T 85.40 PASS AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=21.61;MQ0=16;OQ=809.30;QD=13.95;SB=-392.58 GT:AD:DP:GL:GQ 0/1:14,44:31:-93.56,-9.34,-20.82:99 -chr1 4037953 . T C 0.02 FDRtranche1.00to2.00 AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;HRun=3;HaplotypeScore=11.12;MQ=21.57;MQ0=12;OQ=534.72;QD=14.07;SB=-137.10 GT:AD:DP:GL:GQ 1/1:2,36:20:-60.44,-6.03,-3.38:26.46 -chr1 4037971 . G A 35.49 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=12;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=11.71;MQ0=7;QD=2.96;SB=-7.00 GT:AD:DP:GL:GQ 0/1:2,10:3:-7.73,-0.90,-2.97:20.65 -chr1 4038007 . C T 11.96 PASS AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=24.37;MQ0=17;OQ=478.18;QD=12.58;SB=-0.67 GT:AD:DP:GL:GQ 1/1:9,29:15:-54.99,-4.52,-3.70:8.18 -chr1 4038085 . G A 6.73 PASS AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=25.54;MQ0=21;OQ=1434.12;QD=19.65;SB=-222.29 GT:AD:DP:GL:GQ 1/1:0,70:37:-147.01,-11.15,-0.01:99 -chr1 4038095 . A C 37.18 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=78;Dels=0.00;HRun=2;HaplotypeScore=5.05;MQ=31.28;MQ0=12;QD=0.48;SB=35.10 GT:AD:DP:GL:GQ 0/1:67,11:51:-22.37,-15.37,-153.89:70.01 -chr1 4038119 rs61768805 A G 52.49 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=34.39;MQ0=8;OQ=2201.59;QD=25.60;SB=-880.89 GT:AD:DP:GL:GQ 1/1:0,86:64:-223.78,-19.28,-0.04:99 -chr1 4038137 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=141;Dels=0.00;HRun=1;HaplotypeScore=16.06;MQ=35.46;MQ0=14;OQ=344.80;QD=2.45;SB=-97.28 GT:AD:DP:GL:GQ 0/1:105,36:95:-66.41,-28.65,-282.14:99 -chr1 4038181 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=266;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=35.03;MQ0=15;OQ=1093.66;QD=4.11;SB=-524.11 GT:AD:DP:GL:GQ 0/1:186,80:195:-171.41,-58.76,-524.00:99 -chr1 4038248 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=280;Dels=0.00;HRun=0;HaplotypeScore=30.85;MQ=29.46;MQ0=44;OQ=1065.01;QD=3.80;SB=-230.16 GT:AD:DP:GL:GQ 0/1:155,104:139:-156.85,-47.07,-312.49:99 -chr1 4038269 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=221;Dels=0.00;HRun=2;HaplotypeScore=13.90;MQ=27.15;MQ0=44;OQ=427.47;QD=1.93;SB=-154.75 GT:AD:DP:GL:GQ 0/1:158,62:110:-79.18,-33.15,-296.78:99 -chr1 4038306 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=113;Dels=0.00;HRun=0;HaplotypeScore=30.95;MQ=24.15;MQ0=24;OQ=80.75;QD=0.71;SB=17.44 GT:AD:DP:GL:GQ 0/1:88,21:54:-27.64,-16.28,-152.20:99 -chr1 4038311 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=0;HaplotypeScore=30.17;MQ=23.18;MQ0=20;OQ=320.40;QD=3.56;SB=-113.10 GT:AD:DP:GL:GQ 0/1:60,30:46:-49.20,-13.87,-108.56:99 -chr1 4038321 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=3;HaplotypeScore=15.26;MQ=23.68;MQ0=14;OQ=766.53;QD=12.99;SB=-327.28 GT:AD:DP:GL:GQ 0/1:10,49:31:-89.28,-9.34,-16.69:73.43 -chr1 4038334 . G A 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.69;MQ=25.40;MQ0=9;OQ=78.94;QD=1.49;SB=-27.72 GT:AD:DP:GL:GQ 0/1:40,11:25:-21.55,-10.37,-63.16:99 -chr1 4038397 . A G 17.54 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=29.53;MQ0=4;OQ=326.31;QD=7.42;SB=-58.84 GT:AD:DP:GL:GQ 0/1:24,20:28:-44.35,-8.44,-57.72:99 -chr1 4038422 rs61768806 G A 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=18.20;MQ=33.84;MQ0=4;OQ=183.71;QD=3.40;SB=-62.31 GT:AD:DP:GL:GQ 0/1:35,13:24:-31.46,-9.80,-50.09:99 -chr1 4038450 rs9426493 G A 0.12 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=7.50;MQ=40.53;MQ0=7;OQ=257.95;QD=3.31;SB=38.10 GT:AD:DP:GL:GQ 0/1:50,27:46:-42.95,-13.87,-108.04:99 -chr1 4038485 . T C 49.84 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=130;Dels=0.00;HRun=1;HaplotypeScore=36.99;MQ=38.79;MQ0=13;QD=0.38;SB=-42.38 GT:AD:DP:GL:GQ 0/1:107,23:79:-32.08,-23.81,-273.26:82.67 -chr1 4038495 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=136;Dels=0.00;HRun=3;HaplotypeScore=26.37;MQ=38.36;MQ0=11;OQ=110.49;QD=0.81;SB=81.70 GT:AD:DP:GL:GQ 0/1:101,35:77:-37.55,-23.22,-250.69:99 -chr1 4038559 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=142;Dels=0.00;HRun=2;HaplotypeScore=4.40;MQ=37.40;MQ0=14;OQ=181.94;QD=1.28;SB=76.72 GT:AD:DP:GL:GQ 0/1:114,27:102:-52.21,-30.74,-302.69:99 -chr1 4038595 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=10.57;MQ=44.92;MQ0=10;OQ=118.91;QD=1.67;SB=44.58 GT:AD:DP:GL:GQ 0/1:49,22:52:-30.86,-15.68,-162.15:99 -chr1 4038920 rs12240075 G A 506.65 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.13;MQ0=0;OQ=3029.69;QD=39.35;SB=-1486.40 GT:AD:DP:GL:GQ 1/1:0,77:75:-306.57,-22.59,-0.02:99 -chr1 4039098 rs4073835 G A 496.74 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2305.48;QD=39.08;SB=-997.03 GT:AD:DP:GL:GQ 1/1:0,59:59:-234.15,-17.78,-0.02:99 -chr1 4039791 rs4639725 C T 236.18 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.86;MQ=59.67;MQ0=0;OQ=2672.94;QD=38.18;SB=-1315.36 GT:AD:DP:GL:GQ 1/1:0,70:69:-270.90,-20.79,-0.02:99 -chr1 4039890 rs4436359 C A 272.88 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.38;MQ=60.00;MQ0=0;OQ=1804.54;QD=34.70;SB=-797.85 GT:AD:DP:GL:GQ 1/1:1,51:51:-184.06,-15.36,-0.02:99 -chr1 4040736 rs6684922 G A 149.31 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.70;MQ0=0;OQ=2464.15;QD=39.74;SB=-984.31 GT:AD:DP:GL:GQ 1/1:0,62:61:-250.01,-18.37,-0.01:99 -chr1 4041212 rs7418376 A G 9.41 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=4.36;MQ=59.69;MQ0=0;OQ=2587.00;QD=34.49;SB=-1318.64 GT:AD:DP:GL:GQ 1/1:0,75:71:-262.30,-21.38,-0.02:99 -chr1 4041774 rs6657076 T C 524.19 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.94;MQ0=0;OQ=2268.81;QD=30.25;SB=-1070.20 GT:AD:DP:GL:GQ 1/1:0,75:71:-230.53,-21.41,-0.06:99 -chr1 4045735 rs10915422 A C 14.87 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=2;HaplotypeScore=4.42;MQ=59.68;MQ0=0;OQ=2455.12;QD=33.63;SB=-728.83 GT:AD:DP:GL:GQ 1/1:0,73:71:-249.12,-21.38,-0.02:99 -chr1 4045888 rs10915423 A C 727.77 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=2031.28;QD=35.02;SB=-998.12 GT:AD:DP:GL:GQ 1/1:0,58:58:-206.73,-17.47,-0.02:99 -chr1 4046948 rs10915425 T G 80.45 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=53.47;MQ0=0;OQ=1869.59;QD=31.69;SB=-736.37 GT:AD:DP:GL:GQ 1/1:0,59:55:-190.57,-16.57,-0.02:99 -chr1 4046996 rs55774050 C G 2240.61 Indel AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=9.46;MQ=51.11;MQ0=0;QD=43.09;SB=-978.74 GT:AD:DP:GL:GQ 1/1:0,52:52:-227.66,-15.67,-0.01:99 -chr1 4047821 rs11578552 T C 402.68 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.32;MQ0=0;OQ=2100.45;QD=30.89;SB=-846.51 GT:AD:DP:GL:GQ 1/1:0,68:66:-213.69,-19.91,-0.06:99 -chr1 4047883 rs11577344 C T 490.32 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1935.40;QD=37.95;SB=-660.87 GT:AD:DP:GL:GQ 1/1:0,51:48:-197.13,-14.46,-0.01:99 -chr1 4049164 rs7411603 A G 3.63 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=6.69;MQ=58.71;MQ0=0;OQ=1270.28;QD=27.03;SB=-493.17 GT:AD:DP:GL:GQ 1/1:0,47:41:-130.65,-12.36,-0.04:99 -chr1 4050387 rs10753365 G A 99.83 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=58.61;MQ0=0;OQ=1534.51;QD=32.65;SB=-464.08 GT:AD:DP:GL:GQ 1/1:0,46:42:-157.07,-12.67,-0.03:99 -chr1 4051611 rs4548406 T C 78.22 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.20;MQ0=0;OQ=1346.57;QD=28.65;SB=-544.85 GT:AD:DP:GL:GQ 1/1:0,47:44:-138.29,-13.28,-0.05:99 -chr1 4051999 rs12123119 C T 624.91 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=2169.89;QD=37.41;SB=-1044.39 GT:AD:DP:GL:GQ 1/1:0,58:55:-220.59,-16.57,-0.02:99 -chr1 4052066 rs4654410 C T 678.96 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.24;MQ0=0;OQ=2087.99;QD=37.96;SB=-873.17 GT:AD:DP:GL:GQ 1/1:0,55:53:-212.40,-15.97,-0.02:99 -chr1 4052788 rs4481820 C A 313.17 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=58.81;MQ0=0;OQ=1188.08;QD=18.86;SB=-612.83 GT:AD:DP:GL:GQ 0/1:26,37:61:-140.47,-18.38,-73.47:99 -chr1 4052947 rs6676961 T G 272.74 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=60.00;MQ0=0;OQ=1401.56;QD=15.75;SB=-713.67 GT:AD:DP:GL:GQ 0/1:39,50:87:-169.64,-26.20,-144.08:99 -chr1 4053067 rs12125719 A G 101.01 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=58.17;MQ0=0;OQ=1483.09;QD=29.08;SB=-606.95 GT:AD:DP:GL:GQ 1/1:0,51:48:-151.94,-14.48,-0.05:99 -chr1 4053090 rs12125725 A G 83.74 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.17;MQ0=0;OQ=1585.81;QD=31.09;SB=-493.18 GT:AD:DP:GL:GQ 1/1:0,51:49:-162.20,-14.77,-0.03:99 -chr1 4053122 rs12126649 T C 176.61 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=3.71;MQ=59.24;MQ0=0;OQ=907.97;QD=14.88;SB=-331.31 GT:AD:DP:GL:GQ 0/1:25,36:59:-111.87,-17.79,-96.53:99 -chr1 4055170 rs12033210 T C 0.60 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=1.74;MQ=28.53;MQ0=2;OQ=209.19;QD=4.65;SB=-102.57 GT:AD:DP:GL:GQ 0/1:32,13:39:-35.96,-11.75,-110.64:99 -chr1 4056038 rs10799198 G A 260.47 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=3.90;MQ=58.67;MQ0=0;OQ=782.28;QD=15.96;SB=-386.17 GT:AD:DP:GL:GQ 0/1:25,24:47:-95.68,-14.17,-75.73:99 -chr1 4057058 rs4600014 A G 442.87 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=917.69;QD=13.70;SB=-389.30 GT:AD:DP:GL:GQ 0/1:34,33:66:-114.93,-19.88,-136.81:99 -chr1 4057633 rs4361964 G C 120.54 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=2.73;MQ=59.22;MQ0=0;OQ=837.80;QD=15.51;SB=-437.88 GT:AD:DP:GL:GQ 0/1:29,25:53:-103.04,-15.97,-126.00:99 -chr1 4057702 rs4351611 C T 297.44 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=59.56;MQ0=0;OQ=594.05;QD=11.21;SB=-284.78 GT:AD:DP:GL:GQ 0/1:33,20:53:-78.67,-15.98,-105.42:99 -chr1 4057917 . A T 65.58 PASS AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=59.62;MQ0=0;OQ=752.30;QD=12.54;SB=-170.72 GT:AD:DP:GL:GQ 0/1:33,27:58:-95.98,-17.47,-122.23:99 -chr1 4058815 rs10915428 G T 369.02 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=59.39;MQ0=0;OQ=1224.65;QD=16.11;SB=-630.74 GT:AD:DP:GL:GQ 0/1:35,41:75:-148.34,-22.59,-115.71:99 -chr1 4059239 rs10799199 C T 251.96 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.66;MQ0=0;OQ=1243.57;QD=18.84;SB=-304.82 GT:AD:DP:GL:GQ 0/1:29,37:64:-146.92,-19.28,-100.42:99 -chr1 4059378 . C T 11.57 PASS AC=1;AF=0.50;AN=2;DP=84;Dels=0.00;HRun=3;HaplotypeScore=0.47;MQ=59.47;MQ0=0;OQ=1236.26;QD=14.72;SB=-551.55 GT:AD:DP:GL:GQ 0/1:45,38:82:-151.61,-24.70,-168.36:99 -chr1 4060338 rs10799200 T C 170.59 PASS AC=1;AF=0.50;AN=2;DB;DP=20;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.06;MQ0=0;OQ=152.75;QD=7.64;SB=-10.00 GT:AD:DP:GL:GQ 0/1:13,7:19:-24.28,-5.72,-48.27:99 -chr1 4064782 rs61768818 G A 481.48 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.07;MQ0=0;OQ=848.15;QD=13.90;SB=-350.47 GT:AD:DP:GL:GQ 0/1:34,27:59:-105.87,-17.77,-118.54:99 -chr1 4066674 rs12032257 C T 294.19 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=59.36;MQ0=0;OQ=916.01;QD=14.09;SB=-410.80 GT:AD:DP:GL:GQ 0/1:35,30:64:-114.18,-19.29,-113.47:99 -chr1 4067283 . T C 0.61 PASS AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=2;HaplotypeScore=4.39;MQ=59.62;MQ0=0;OQ=557.04;QD=9.13;SB=-241.90 GT:AD:DP:GL:GQ 0/1:35,25:58:-76.48,-17.49,-133.72:99 -chr1 4067926 rs7542313 A G 387.57 PASS AC=1;AF=0.50;AN=2;DB;DP=21;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=220.94;QD=10.52;SB=-100.82 GT:AD:DP:GL:GQ 0/1:11,10:19:-31.10,-5.72,-40.90:99 -chr1 4075727 . C T 158.87 PASS AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.34;MQ=59.67;MQ0=0;OQ=1143.65;QD=16.34;SB=-503.75 GT:AD:DP:GL:GQ 0/1:35,35:66:-137.54,-19.89,-102.02:99 -chr1 4075966 rs6670920 T C 606.24 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.49;MQ0=0;OQ=1104.32;QD=15.13;SB=-452.80 GT:AD:DP:GL:GQ 0/1:30,43:71:-135.11,-21.40,-121.92:99 -chr1 4077630 rs4654486 G A 691.51 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2711.47;QD=39.87;SB=-1087.95 GT:AD:DP:GL:GQ 1/1:0,68:68:-274.75,-20.48,-0.02:99 -chr1 4078163 rs10737402 T C 504.16 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.72;MQ0=0;OQ=530.04;QD=10.82;SB=-231.26 GT:AD:DP:GL:GQ 0/1:26,23:49:-71.06,-14.78,-100.24:99 -chr1 4080498 rs12042946 T C 249.02 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=60.30;MQ0=0;OQ=891.53;QD=12.56;SB=-237.45 GT:AD:DP:GL:GQ 0/1:37,34:69:-113.22,-20.78,-148.64:99 -chr1 4080702 rs12040805 C T 139.94 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.60;MQ0=0;OQ=776.81;QD=15.54;SB=-108.61 GT:AD:DP:GL:GQ 0/1:26,24:46:-94.83,-13.87,-71.68:99 -chr1 4081256 rs10753367 T C 35.67 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=3;HaplotypeScore=2.04;MQ=59.74;MQ0=0;OQ=1167.96;QD=12.98;SB=-513.88 GT:AD:DP:GL:GQ 0/1:48,42:88:-146.59,-26.51,-188.24:99 -chr1 4081433 rs10799203 T G 17.84 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=2;HaplotypeScore=0.74;MQ=59.59;MQ0=0;OQ=328.89;QD=7.15;SB=-123.86 GT:AD:DP:GL:GQ 0/1:29,17:43:-49.13,-12.95,-102.00:99 -chr1 4082645 rs4400585 G T 491.60 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.19;MQ0=0;OQ=492.73;QD=10.71;SB=-210.53 GT:AD:DP:GL:GQ 0/1:27,19:44:-65.81,-13.26,-82.00:99 -chr1 4082866 rs10915437 A G 75.21 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=4.59;MQ=58.36;MQ0=0;OQ=891.90;QD=12.56;SB=-289.16 GT:AD:DP:GL:GQ 0/1:37,34:68:-112.97,-20.49,-138.67:99 -chr1 4083359 rs56090673 C T 320.01 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1009.69;QD=17.11;SB=-451.46 GT:AD:DP:GL:GQ 0/1:27,32:58:-121.73,-17.48,-93.77:99 -chr1 4083978 rs7531421 A G 116.24 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=57.42;MQ0=0;OQ=435.48;QD=7.02;SB=-215.25 GT:AD:DP:GL:GQ 0/1:41,21:60:-64.91,-18.08,-162.54:99 -chr1 4084862 rs6675734 C T 47.52 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=5.09;MQ=59.20;MQ0=0;OQ=1105.86;QD=19.07;SB=-554.64 GT:AD:DP:GL:GQ 0/1:25,33:57:-131.05,-17.18,-82.44:99 -chr1 4084986 rs10753368 A G 566.85 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.78;MQ0=0;OQ=1198.41;QD=14.10;SB=-565.61 GT:AD:DP:GL:GQ 0/1:44,41:83:-148.13,-25.00,-168.94:99 -chr1 4085630 rs6679136 C T 24.06 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=4.32;MQ=58.42;MQ0=0;OQ=804.43;QD=14.36;SB=-252.24 GT:AD:DP:GL:GQ 0/1:29,27:53:-99.70,-15.97,-99.87:99 -chr1 4085663 rs6669476 G A 136.10 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.26;MQ=57.81;MQ0=0;OQ=833.61;QD=13.89;SB=-171.20 GT:AD:DP:GL:GQ 0/1:32,27:56:-103.51,-16.87,-106.04:99 -chr1 4086169 rs6426389 C T 138.99 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=0.83;MQ=59.69;MQ0=0;OQ=1183.25;QD=19.72;SB=-609.44 GT:AD:DP:GL:GQ 0/1:26,34:60:-139.68,-18.07,-94.16:99 -chr1 4086333 rs6663976 C G 599.30 PASS AC=2;AF=1.00;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=3962.79;QD=44.03;SB=-1451.88 GT:AD:DP:GL:GQ 1/1:0,90:89:-395.28,-26.81,-0.02:99 -chr1 4087812 rs4654487 T C 259.04 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.38;MQ=59.52;MQ0=0;OQ=1480.85;QD=30.85;SB=-766.73 GT:AD:DP:GL:GQ 1/1:0,48:47:-151.71,-14.17,-0.04:99 -chr1 4089403 . G C 16.75 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=1;HaplotypeScore=2.80;MQ=58.74;MQ0=0;QD=0.45;SB=53.21 GT:AD:DP:GL:GQ 0/1:27,10:26:-12.79,-7.84,-102.04:49.49 -chr1 4089489 rs7536041 T C 90.49 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=59.19;MQ0=0;OQ=812.10;QD=15.62;SB=-146.31 GT:AD:DP:GL:GQ 0/1:23,29:51:-99.86,-15.37,-93.49:99 -chr1 4090545 rs4282783 T G 725.47 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.65;MQ0=0;OQ=2332.11;QD=35.34;SB=-970.80 GT:AD:DP:GL:GQ 1/1:0,66:66:-236.81,-19.88,-0.02:99 -chr1 4091584 rs4654488 A T 219.84 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=2.30;MQ=60.00;MQ0=0;OQ=743.21;QD=16.52;SB=-370.44 GT:AD:DP:GL:GQ 0/1:20,25:44:-90.86,-13.25,-75.80:99 -chr1 4092168 rs10915441 C G 2.97 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=4;HaplotypeScore=3.62;MQ=59.69;MQ0=0;OQ=1389.48;QD=18.78;SB=-645.48 GT:AD:DP:GL:GQ 0/1:35,39:69:-163.06,-20.83,-116.77:99 -chr1 4092567 rs10915442 A G 394.78 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.42;MQ0=0;OQ=572.04;QD=14.30;SB=-311.22 GT:AD:DP:GL:GQ 0/1:18,22:39:-72.24,-11.76,-67.58:99 -chr1 4093270 rs10799206 C G 674.75 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.42;MQ0=0;OQ=2045.47;QD=38.59;SB=-902.40 GT:AD:DP:GL:GQ 1/1:0,52:50:-208.16,-15.07,-0.02:99 -chr1 4093286 rs12409803 G A 414.64 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=57.03;MQ0=0;OQ=773.71;QD=14.33;SB=-322.45 GT:AD:DP:GL:GQ 0/1:28,26:51:-96.03,-15.38,-79.04:99 -chr1 4093324 rs10915443 G C 254.64 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=58.02;MQ0=0;OQ=1430.72;QD=20.15;SB=-674.45 GT:AD:DP:GL:GQ 0/1:30,40:69:-167.15,-20.79,-134.28:99 -chr1 4093733 rs6693173 A G 464.34 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.13;MQ0=0;OQ=1381.36;QD=28.78;SB=-644.93 GT:AD:DP:GL:GQ 1/1:0,48:45:-141.76,-13.57,-0.04:99 -chr1 4094457 rs4131506 A C 340.66 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=59.60;MQ0=0;OQ=704.94;QD=12.15;SB=-316.99 GT:AD:DP:GL:GQ 0/1:32,26:58:-91.25,-17.47,-120.43:99 -chr1 4094660 rs4131508 A G 571.17 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.76;MQ0=0;OQ=1332.71;QD=17.31;SB=-634.89 GT:AD:DP:GL:GQ 0/1:33,44:77:-159.75,-23.19,-134.55:99 -chr1 4094683 rs4630099 A G 443.98 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1288.63;QD=16.31;SB=-670.63 GT:AD:DP:GL:GQ 0/1:36,43:77:-155.34,-23.19,-143.15:99 -chr1 4095397 rs10915444 T C 1.76 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=2;HaplotypeScore=8.82;MQ=58.53;MQ0=0;OQ=789.45;QD=10.25;SB=-380.13 GT:AD:DP:GL:GQ 0/1:49,28:72:-103.91,-21.68,-179.32:99 -chr1 4095558 rs35986531 G A 271.33 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=1.49;MQ=56.64;MQ0=0;OQ=1336.75;QD=16.71;SB=-522.69 GT:AD:DP:GL:GQ 0/1:36,44:75:-159.55,-22.59,-133.47:99 -chr1 4095815 rs12118815 A T 0.50 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=13.10;MQ=57.70;MQ0=3;OQ=1249.48;QD=13.88;SB=-570.06 GT:AD:DP:GL:GQ 0/1:44,46:80:-152.33,-24.10,-146.70:99 -chr1 4095919 . A T 39.64 LowQual AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=51.56;MQ0=5;QD=0.50;SB=-37.91 GT:AD:DP:GL:GQ 0/1:71,9:66:-27.13,-19.88,-223.94:72.48 -chr1 4096225 . A G 48.26 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=1;HaplotypeScore=1.44;MQ=52.24;MQ0=7;QD=0.68;SB=74.28 GT:AD:DP:GL:GQ 0/1:64,7:63:-27.09,-18.98,-229.53:81.10 -chr1 4096236 . T G 0.06 PASS AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=54.07;MQ0=3;OQ=91.64;QD=1.31;SB=86.24 GT:AD:DP:GL:GQ 0/1:61,9:66:-32.33,-19.88,-208.22:99 -chr1 4096240 . A T 0.08 PASS AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=53.91;MQ0=2;OQ=161.77;QD=2.16;SB=86.29 GT:AD:DP:GL:GQ 0/1:64,11:72:-41.14,-21.68,-231.71:99 -chr1 4096257 . A T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=1;HaplotypeScore=3.00;MQ=53.32;MQ0=2;OQ=207.48;QD=2.56;SB=92.31 GT:AD:DP:GL:GQ 0/1:68,13:79:-47.82,-23.79,-251.49:99 -chr1 4096278 . A G 232.76 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=87;Dels=0.00;HRun=0;HaplotypeScore=27.32;MQ=52.46;MQ0=1;QD=2.68;SB=98.35 GT:AD:DP:GL:GQ 0/1:72,15:85:-52.16,-25.60,-288.15:99 -chr1 4096286 . G A 106.04 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=90;Dels=0.00;HRun=1;HaplotypeScore=48.93;MQ=51.56;MQ0=1;QD=1.18;SB=98.32 GT:AD:DP:GL:GQ 0/1:78,12:85:-39.49,-25.60,-276.62:99 -chr1 4096288 rs34088827 G A 955.67 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=1;HaplotypeScore=48.46;MQ=51.26;MQ0=1;QD=10.62;SB=-379.33 GT:AD:DP:GL:GQ 0/1:57,33:88:-125.36,-26.51,-207.05:99 -chr1 4096294 . A T 86.31 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=1;HaplotypeScore=32.32;MQ=50.46;MQ0=1;QD=0.97;SB=89.30 GT:AD:DP:GL:GQ 0/1:73,16:80:-36.01,-24.10,-264.64:99 -chr1 4096606 rs28726337 A G 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=95;Dels=0.00;HRun=2;HaplotypeScore=13.44;MQ=43.57;MQ0=1;OQ=262.51;QD=2.76;SB=-123.92 GT:AD:DP:GL:GQ 0/1:75,20:86:-55.44,-25.91,-287.10:99 -chr1 4096617 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=116;Dels=0.00;HRun=1;HaplotypeScore=34.91;MQ=42.33;MQ0=1;OQ=1160.59;QD=10.01;SB=-606.06 GT:AD:DP:GL:GQ 0/1:70,46:109:-152.17,-32.83,-258.54:99 -chr1 4096620 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=123;Dels=0.01;HRun=0;HaplotypeScore=30.11;MQ=42.25;MQ0=1;OQ=989.14;QD=8.04;SB=-388.23 GT:AD:DP:GL:GQ 0/1:72,50:106:-134.12,-31.93,-263.47:99 -chr1 4096638 rs28412783 C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=181;Dels=0.02;HRun=0;HaplotypeScore=64.64;MQ=40.70;MQ0=1;OQ=1178.07;QD=6.51;SB=-446.63 GT:AD:DP:GL:GQ 0/1:123,47:169:-194.38,-73.29,-545.37:99 -chr1 4096655 rs61768832 A G 321.42 DPFilter;Indel AC=1;AF=0.50;AN=2;DB;DP=228;Dels=0.00;HRun=1;HaplotypeScore=261.82;MQ=41.93;MQ0=0;QD=1.41;SB=-157.54 GT:AD:DP:GL:GQ 0/1:199,29:224:-102.90,-67.48,-791.83:99 -chr1 4096678 . T G 1342.80 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=236;Dels=0.00;HRun=0;HaplotypeScore=216.99;MQ=43.01;MQ0=0;QD=5.69;SB=-512.77 GT:AD:DP:GL:GQ 0/1:166,63:218:-227.86,-90.30,-587.53:99 -chr1 4096685 . A G 1626.24 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=239;Dels=0.00;HRun=1;HaplotypeScore=162.66;MQ=41.97;MQ0=0;QD=6.80;SB=-808.35 GT:AD:DP:GL:GQ 0/1:167,72:225:-233.68,-67.78,-652.24:99 -chr1 4096698 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=228;Dels=0.00;HRun=0;HaplotypeScore=76.98;MQ=42.62;MQ0=0;OQ=2269.48;QD=9.95;SB=-1066.45 GT:AD:DP:GL:GQ 0/1:129,90:219:-325.16,-94.93,-493.11:99 -chr1 4096706 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=230;Dels=0.00;HRun=1;HaplotypeScore=79.95;MQ=43.15;MQ0=0;OQ=1034.27;QD=4.50;SB=-170.01 GT:AD:DP:GL:GQ 0/1:185,45:223:-173.88,-67.17,-658.24:99 -chr1 4096718 rs61768834 G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=216;Dels=0.00;HRun=0;HaplotypeScore=38.48;MQ=44.61;MQ0=0;OQ=645.34;QD=2.99;SB=-265.93 GT:AD:DP:GL:GQ 0/1:168,32:157:-165.70,-97.89,-554.00:99 -chr1 4096731 . G A 559.62 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=179;Dels=0.00;HRun=1;HaplotypeScore=83.54;MQ=45.39;MQ0=0;QD=3.13;SB=44.95 GT:AD:DP:GL:GQ 0/1:150,29:155:-105.94,-46.69,-468.61:99 -chr1 4096732 rs61768835 A G 2251.43 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=171;Dels=0.00;HRun=2;HaplotypeScore=115.12;MQ=45.31;MQ0=0;QD=13.17;SB=-1083.79 GT:AD:DP:GL:GQ 0/1:80,91:158:-276.04,-47.61,-312.72:99 -chr1 4096736 rs61768836 A G 2066.81 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=169;Dels=0.02;HRun=0;HaplotypeScore=91.40;MQ=45.63;MQ0=0;QD=12.23;SB=-1029.89 GT:AD:DP:GL:GQ 0/1:85,81:160:-257.27,-47.30,-336.21:99 -chr1 4096755 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=129;Dels=0.00;HRun=1;HaplotypeScore=46.33;MQ=46.26;MQ0=0;OQ=201.55;QD=1.56;SB=65.52 GT:AD:DP:GL:GQ 0/1:112,17:113:-57.49,-34.05,-383.82:99 -chr1 4096759 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=124;Dels=0.00;HRun=0;HaplotypeScore=42.17;MQ=46.84;MQ0=0;OQ=310.94;QD=2.51;SB=-151.81 GT:AD:DP:GL:GQ 0/1:106,18:122:-71.13,-36.75,-367.88:99 -chr1 4096775 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=113;Dels=0.00;HRun=0;HaplotypeScore=30.95;MQ=47.51;MQ0=0;OQ=647.24;QD=5.73;SB=52.09 GT:AD:DP:GL:GQ 0/1:87,26:107:-100.24,-32.23,-298.38:99 -chr1 4096805 . A G 20.07 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=109;Dels=0.00;HRun=1;HaplotypeScore=14.94;MQ=48.07;MQ0=0;QD=0.18;SB=107.37 GT:AD:DP:GL:GQ 0/1:94,15:99:-35.11,-29.83,-355.50:52.86 -chr1 4096811 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=105;Dels=0.00;HRun=1;HaplotypeScore=14.56;MQ=47.07;MQ0=0;OQ=301.49;QD=2.87;SB=92.31 GT:AD:DP:GL:GQ 0/1:85,20:99:-63.26,-29.83,-325.00:99 -chr1 4096845 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=101;Dels=0.00;HRun=1;HaplotypeScore=27.21;MQ=46.78;MQ0=0;OQ=135.08;QD=1.34;SB=107.37 GT:AD:DP:GL:GQ 0/1:86,15:98:-46.31,-29.52,-344.47:99 -chr1 4096895 rs6702633 G A 282.98 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.30;MQ=48.03;MQ0=0;OQ=1209.14;QD=19.50;SB=-562.59 GT:AD:DP:GL:GQ 0/1:26,36:60:-142.27,-18.07,-91.55:99 -chr1 4097116 rs6663939 C T 575.23 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=1353.52;QD=17.35;SB=-623.00 GT:AD:DP:GL:GQ 0/1:38,40:78:-162.13,-23.49,-140.27:99 -chr1 4097278 rs4408122 C T 90.17 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=3.55;MQ=60.00;MQ0=0;OQ=1285.61;QD=19.78;SB=-663.71 GT:AD:DP:GL:GQ 0/1:26,39:64:-151.13,-19.28,-94.25:99 -chr1 4097502 rs10915445 G A 15.47 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=2;HaplotypeScore=4.76;MQ=58.14;MQ0=0;OQ=1551.73;QD=21.26;SB=-659.25 GT:AD:DP:GL:GQ 0/1:29,44:69:-179.24,-20.78,-91.34:99 -chr1 4097702 rs4233259 G A 393.71 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=57.88;MQ0=0;OQ=488.96;QD=11.64;SB=-238.49 GT:AD:DP:GL:GQ 0/1:23,19:39:-63.93,-11.75,-79.38:99 -chr1 4097847 rs4233260 A G 265.81 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=58.25;MQ0=0;OQ=841.80;QD=15.31;SB=-425.02 GT:AD:DP:GL:GQ 0/1:21,34:53:-103.45,-15.98,-81.47:99 -chr1 4098460 rs4654489 C T 575.94 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=1233.62;QD=17.37;SB=-483.09 GT:AD:DP:GL:GQ 0/1:34,37:71:-148.05,-21.40,-108.91:99 -chr1 4098462 rs4654412 C G 408.58 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=1295.21;QD=18.24;SB=-423.31 GT:AD:DP:GL:GQ 0/1:36,35:70:-153.90,-21.10,-151.48:99 -chr1 4098561 rs4654490 T C 109.69 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=5.61;MQ=59.35;MQ0=0;OQ=707.20;QD=11.05;SB=-320.12 GT:AD:DP:GL:GQ 0/1:35,29:62:-92.69,-18.69,-135.70:99 -chr1 4098636 rs4654491 A T 298.65 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.55;MQ=58.32;MQ0=0;OQ=679.16;QD=12.81;SB=-348.54 GT:AD:DP:GL:GQ 0/1:28,25:51:-86.56,-15.36,-108.00:99 -chr1 4101675 rs4654492 C T 166.06 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=985.64;QD=17.92;SB=-310.22 GT:AD:DP:GL:GQ 0/1:24,31:53:-117.81,-15.96,-85.09:99 -chr1 4102203 rs10799207 G A 234.26 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=645.03;QD=15.36;SB=-340.37 GT:AD:DP:GL:GQ 0/1:22,20:41:-80.15,-12.36,-66.12:99 -chr1 4102678 rs7542208 A G 473.41 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=58.58;MQ0=0;OQ=945.73;QD=14.78;SB=-439.91 GT:AD:DP:GL:GQ 0/1:26,38:62:-116.54,-18.69,-104.23:99 -chr1 4102853 rs12143662 C T 77.17 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=2;HaplotypeScore=3.06;MQ=59.31;MQ0=0;OQ=653.08;QD=14.51;SB=-306.78 GT:AD:DP:GL:GQ 0/1:23,22:43:-81.54,-12.95,-84.16:99 -chr1 4103423 rs12096127 C T 146.81 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=3;HaplotypeScore=0.93;MQ=59.48;MQ0=0;OQ=1299.31;QD=16.24;SB=-452.94 GT:AD:DP:GL:GQ 0/1:42,38:79:-157.01,-23.79,-152.41:99 -chr1 4104350 . G A 39.75 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=98;Dels=0.00;HRun=0;HaplotypeScore=50.14;MQ=43.88;MQ0=0;QD=0.41;SB=41.13 GT:AD:DP:GL:GQ 0/1:55,43:59:-25.05,-17.79,-166.63:72.58 -chr1 4104372 . C A 158.64 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=134;Dels=0.00;HRun=1;HaplotypeScore=261.20;MQ=40.26;MQ0=0;QD=1.18;SB=50.16 GT:AD:DP:GL:GQ 0/1:118,16:102:-49.87,-30.72,-316.01:99 -chr1 4104378 . T C 1045.41 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=132;Dels=0.09;HRun=0;HaplotypeScore=252.28;MQ=39.40;MQ0=0;QD=7.92;SB=47.18 GT:AD:DP:GL:GQ 0/1:70,50:112:-140.05,-32.23,-268.85:99 -chr1 4104379 . G A 1387.27 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=131;Dels=0.09;HRun=0;HaplotypeScore=164.33;MQ=39.20;MQ0=0;QD=10.59;SB=44.10 GT:AD:DP:GL:GQ 0/1:65,54:109:-173.34,-31.33,-223.67:99 -chr1 4104399 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=192;Dels=0.00;HRun=0;HaplotypeScore=398.28;MQ=38.87;MQ0=2;OQ=296.43;QD=1.54;SB=-98.03 GT:AD:DP:GL:GQ 0/1:164,28:154:-79.31,-46.39,-472.12:99 -chr1 4104401 rs61768839 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=194;Dels=0.00;HRun=0;HaplotypeScore=419.03;MQ=39.00;MQ0=2;OQ=166.93;QD=0.86;SB=-91.09 GT:AD:DP:GL:GQ 0/1:156,37:153:-66.06,-46.09,-471.26:99 -chr1 4104420 rs56397723 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=252;Dels=0.01;HRun=1;HaplotypeScore=92.55;MQ=41.09;MQ0=3;OQ=4650.56;QD=18.45;SB=-702.42 GT:AD:DP:GL:GQ 0/1:91,159:212:-464.06,-63.56,-317.29:99 -chr1 4104448 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=303;Dels=0.00;HRun=1;HaplotypeScore=67.42;MQ=41.21;MQ0=8;OQ=4147.70;QD=13.69;SB=-263.14 GT:AD:DP:GL:GQ 0/1:172,131:260:-413.77,-78.32,-559.37:99 -chr1 4104453 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=303;Dels=0.00;HRun=0;HaplotypeScore=122.24;MQ=41.63;MQ0=7;OQ=1110.55;QD=3.67;SB=-37.03 GT:AD:DP:GL:GQ 0/1:232,70:246:-188.46,-74.12,-759.14:99 -chr1 4104461 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=296;Dels=0.01;HRun=1;HaplotypeScore=119.61;MQ=41.59;MQ0=7;OQ=214.27;QD=0.72;SB=-23.14 GT:AD:DP:GL:GQ 0/1:251,42:244:-97.34,-72.63,-828.00:99 -chr1 4104464 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=293;Dels=0.00;HRun=0;HaplotypeScore=47.37;MQ=41.56;MQ0=7;OQ=330.17;QD=1.13;SB=-9.81 GT:AD:DP:GL:GQ 0/1:251,41:246:-110.42,-74.12,-748.00:99 -chr1 4104493 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=213;Dels=0.00;HRun=1;HaplotypeScore=30.82;MQ=42.50;MQ0=6;OQ=2710.70;QD=12.73;SB=-739.33 GT:AD:DP:GL:GQ 0/1:93,120:174:-326.79,-52.44,-298.85:99 -chr1 4104517 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=157;Dels=0.00;HRun=0;HaplotypeScore=91.08;MQ=42.89;MQ0=5;OQ=579.51;QD=3.69;SB=-277.61 GT:AD:DP:GL:GQ 0/1:123,34:134:-101.62,-40.38,-368.83:99 -chr1 4104540 rs62641248 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=101.41;MQ=39.74;MQ0=1;OQ=311.08;QD=3.34;SB=-25.45 GT:AD:DP:GL:GQ 0/1:75,18:80:-58.50,-24.10,-250.10:99 -chr1 4104551 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=87.22;MQ=37.20;MQ0=4;OQ=331.14;QD=4.87;SB=-44.20 GT:AD:DP:GL:GQ 0/1:51,17:54:-52.67,-16.27,-140.50:99 -chr1 4104561 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=0;HaplotypeScore=32.90;MQ=39.14;MQ0=4;OQ=99.56;QD=1.56;SB=92.30 GT:AD:DP:GL:GQ 0/1:53,11:58:-30.72,-17.48,-172.38:99 -chr1 4104601 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=204;Dels=0.00;HRun=0;HaplotypeScore=38.41;MQ=39.91;MQ0=6;OQ=155.34;QD=0.76;SB=68.34 GT:AD:DP:GL:GQ 0/1:183,21:180:-73.04,-54.23,-586.07:99 -chr1 4104605 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=211;Dels=0.00;HRun=1;HaplotypeScore=39.02;MQ=40.58;MQ0=6;OQ=226.77;QD=1.07;SB=164.51 GT:AD:DP:GL:GQ 0/1:188,23:190:-83.19,-57.23,-627.45:99 -chr1 4104633 rs56023565 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=168;Dels=0.00;HRun=0;HaplotypeScore=43.28;MQ=41.56;MQ0=5;OQ=1077.06;QD=6.41;SB=128.56 GT:AD:DP:GL:GQ 0/1:117,50:150:-156.17,-45.18,-408.43:99 -chr1 4104638 rs62641251 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=155;Dels=0.00;HRun=1;HaplotypeScore=82.61;MQ=42.16;MQ0=4;OQ=1017.44;QD=6.56;SB=-202.97 GT:AD:DP:GL:GQ 0/1:99,56:128:-143.60,-38.57,-325.85:99 -chr1 4104646 rs56328141 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=133;Dels=0.05;HRun=0;HaplotypeScore=83.44;MQ=42.94;MQ0=3;OQ=598.93;QD=4.50;SB=-113.26 GT:AD:DP:GL:GQ 0/1:76,33:104:-104.27,-41.10,-292.97:99 -chr1 4104661 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=114;Dels=0.03;HRun=0;HaplotypeScore=168.88;MQ=43.79;MQ0=2;OQ=339.54;QD=2.98;SB=-7.31 GT:AD:DP:GL:GQ 0/1:92,17:99:-69.57,-32.33,-280.39:99 -chr1 4104695 rs58865682 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=107;Dels=0.00;HRun=0;HaplotypeScore=26.95;MQ=46.39;MQ0=1;OQ=148.27;QD=1.39;SB=113.35 GT:AD:DP:GL:GQ 0/1:90,17:100:-48.23,-30.12,-318.63:99 -chr1 4104698 rs59763636 A C 13.51 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=26.94;MQ=46.80;MQ0=1;QD=0.13;SB=110.36 GT:AD:DP:GL:GQ 0/1:87,17:97:-33.83,-29.22,-321.32:46.15 -chr1 4104799 rs56113813 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=110.54;MQ=45.23;MQ0=4;OQ=195.94;QD=2.13;SB=86.31 GT:AD:DP:GL:GQ 0/1:78,14:77:-46.07,-23.20,-257.99:99 -chr1 4106070 rs9426471 T C 595.81 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.11;MQ0=0;OQ=1098.91;QD=16.16;SB=-453.97 GT:AD:DP:GL:GQ 0/1:32,36:68:-133.66,-20.48,-129.09:99 -chr1 4106148 rs9426494 C T 344.56 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=1.09;MQ=60.00;MQ0=0;OQ=1566.25;QD=17.40;SB=-768.74 GT:AD:DP:GL:GQ 0/1:44,46:88:-186.42,-26.51,-142.07:99 -chr1 4107203 rs6680278 C T 328.94 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.92;MQ0=0;OQ=777.87;QD=13.89;SB=-285.17 GT:AD:DP:GL:GQ 0/1:32,24:55:-97.64,-16.57,-110.93:99 -chr1 4107258 rs6672998 G A 334.86 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=520.45;QD=13.01;SB=-193.18 GT:AD:DP:GL:GQ 0/1:23,17:40:-67.38,-12.05,-82.67:99 -chr1 4107272 rs17406305 C T 361.32 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=60.00;MQ0=0;OQ=435.04;QD=9.89;SB=-220.70 GT:AD:DP:GL:GQ 0/1:26,18:41:-59.15,-12.36,-84.72:99 -chr1 4108156 rs7528351 G A 171.64 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=60.00;MQ0=0;OQ=978.84;QD=16.88;SB=-340.32 GT:AD:DP:GL:GQ 0/1:29,29:58:-118.64,-17.47,-104.14:99 -chr1 4108402 rs7539733 C T 327.50 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=58.92;MQ0=0;OQ=799.67;QD=15.38;SB=-336.43 GT:AD:DP:GL:GQ 0/1:24,28:47:-97.41,-14.16,-80.03:99 -chr1 4108778 rs9426495 G A 284.61 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=3.59;MQ=59.34;MQ0=0;OQ=895.14;QD=14.21;SB=-321.33 GT:AD:DP:GL:GQ 0/1:34,29:62:-111.48,-18.68,-120.65:99 -chr1 4108797 rs9426472 G C 415.96 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.20;MQ=59.27;MQ0=0;OQ=1011.60;QD=17.75;SB=-519.74 GT:AD:DP:GL:GQ 0/1:27,30:53:-120.42,-15.97,-106.06:99 -chr1 4109900 . A G 31.51 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=2;HaplotypeScore=6.53;MQ=57.95;MQ0=0;QD=0.55;SB=59.23 GT:AD:DP:GL:GQ 0/1:35,22:36:-17.29,-10.85,-119.86:64.34 -chr1 4110024 rs6690263 C T 117.28 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=60.00;MQ0=0;OQ=1118.91;QD=21.11;SB=-400.94 GT:AD:DP:GL:GQ 0/1:20,32:53:-134.68,-19.51,-68.02:99 -chr1 4110064 rs6695126 A G 708.48 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1770.58;QD=35.41;SB=-875.05 GT:AD:DP:GL:GQ 1/1:0,50:50:-180.66,-15.06,-0.02:99 -chr1 4110262 rs6683453 G A 435.74 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=57.65;MQ0=0;OQ=1205.59;QD=18.27;SB=-574.05 GT:AD:DP:GL:GQ 0/1:29,37:64:-143.13,-19.28,-100.61:99 -chr1 4110315 rs9426473 G A 464.67 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.61;MQ0=0;OQ=896.46;QD=18.68;SB=-396.93 GT:AD:DP:GL:GQ 0/1:19,29:46:-106.79,-13.86,-67.55:99 -chr1 4110338 rs9426496 A G 430.77 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.52;MQ0=0;OQ=545.25;QD=11.36;SB=-275.98 GT:AD:DP:GL:GQ 0/1:25,23:47:-71.97,-14.16,-100.50:99 -chr1 4111600 rs12752733 G A 194.11 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=59.12;MQ0=0;OQ=1088.74;QD=20.54;SB=-407.75 GT:AD:DP:GL:GQ 0/1:20,33:51:-127.52,-15.37,-66.14:99 -chr1 4111741 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=11;HaplotypeScore=4.85;MQ=55.91;MQ0=0;OQ=88.59;QD=2.16;SB=32.11 GT:AD:DP:GL:GQ 0/1:33,8:32:-21.79,-9.64,-86.81:99 -chr1 4112024 . C T 265.51 PASS AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.50;MQ0=0;OQ=941.42;QD=16.81;SB=-396.13 GT:AD:DP:GL:GQ 0/1:27,29:55:-113.99,-16.57,-97.04:99 -chr1 4112929 rs4654494 C G 169.07 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=2.42;MQ=60.00;MQ0=0;OQ=822.69;QD=13.27;SB=-341.77 GT:AD:DP:GL:GQ 0/1:34,28:54:-101.84,-16.28,-127.78:99 -chr1 4113201 rs55759139 G A 249.56 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=1.37;MQ=59.68;MQ0=0;OQ=761.01;QD=13.12;SB=-311.83 GT:AD:DP:GL:GQ 0/1:32,26:53:-95.35,-15.97,-100.34:99 -chr1 4113760 rs4498774 A C 130.48 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=3.50;MQ=58.71;MQ0=0;OQ=628.38;QD=9.67;SB=-313.59 GT:AD:DP:GL:GQ 0/1:36,29:64:-85.41,-19.28,-138.00:99 -chr1 4114825 rs7339911 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=10;HaplotypeScore=3.32;MQ=58.55;MQ0=0;OQ=757.63;QD=12.42;SB=-183.20 GT:AD:DP:GL:GQ 0/1:36,25:59:-96.82,-17.77,-126.07:99 -chr1 4116025 rs9988443 G A 336.18 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.45;MQ0=0;OQ=1567.78;QD=20.63;SB=-720.28 GT:AD:DP:GL:GQ 0/1:30,46:75:-182.67,-22.61,-94.32:99 -chr1 4116630 rs4336820 T C 72.02 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.26;MQ=59.52;MQ0=0;OQ=1667.19;QD=34.73;SB=-687.27 GT:AD:DP:GL:GQ 1/1:0,48:47:-170.32,-14.16,-0.01:99 -chr1 4116791 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=2;HaplotypeScore=12.66;MQ=58.95;MQ0=0;OQ=57.38;QD=1.43;SB=71.25 GT:AD:DP:GL:GQ 0/1:31,9:34:-19.31,-10.29,-109.30:90.22 -chr1 4117150 rs12062237 T C 0.56 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=3;HaplotypeScore=3.14;MQ=57.94;MQ0=0;OQ=1345.47;QD=32.82;SB=-624.25 GT:AD:DP:GL:GQ 1/1:0,41:39:-138.15,-11.75,-0.02:99 -chr1 4118916 rs3890798 A G 534.42 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.32;MQ0=0;OQ=2055.84;QD=30.23;SB=-868.59 GT:AD:DP:GL:GQ 1/1:0,68:65:-209.23,-19.60,-0.06:99 -chr1 4119595 rs6426391 A T 243.50 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=1.16;MQ=59.73;MQ0=0;OQ=1272.79;QD=18.45;SB=-602.37 GT:AD:DP:GL:GQ 0/1:28,41:68:-151.04,-20.48,-104.90:99 -chr1 4119856 . G A 80.75 PASS AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=54.88;MQ0=1;OQ=952.98;QD=16.15;SB=-461.48 GT:AD:DP:GL:GQ 0/1:28,31:56:-115.46,-16.88,-95.51:99 -chr1 4120161 rs7549636 G A 106.14 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=3.96;MQ=59.21;MQ0=1;OQ=708.05;QD=15.39;SB=-359.50 GT:AD:DP:GL:GQ 0/1:23,23:43:-87.04,-12.95,-74.47:99 -chr1 4120271 rs6426392 T C 252.19 PASS AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.44;MQ0=0;OQ=208.98;QD=7.74;SB=-130.51 GT:AD:DP:GL:GQ 0/1:16,11:25:-31.72,-7.54,-55.62:99 -chr1 4121295 rs4414012 C T 109.52 PASS AC=1;AF=0.50;AN=2;DB;DP=15;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=243.26;QD=16.22;SB=-32.52 GT:AD:DP:GL:GQ 0/1:7,8:15:-32.13,-4.52,-23.19:99 -chr1 4121459 rs4614226 C T 3.52 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.33;MQ0=0;OQ=708.73;QD=25.31;SB=-192.72 GT:AD:DP:GL:GQ 0/1:8,20:25:-81.69,-7.53,-15.26:77.23 -chr1 4122266 rs4654495 C T 267.28 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.05;MQ0=0;OQ=844.66;QD=17.24;SB=-383.42 GT:AD:DP:GL:GQ 0/1:22,27:48:-102.21,-14.46,-81.80:99 -chr1 4122640 . C T 27.21 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=8;Dels=0.00;HRun=1;HaplotypeScore=9.85;MQ=48.82;MQ0=0;QD=3.40;SB=2.03 GT:AD:DP:GL:GQ 0/1:6,2:7:-8.11,-2.11,-18.35:60.04 -chr1 4122866 rs4654413 A G 16.01 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=58.58;MQ0=0;OQ=1224.52;QD=28.48;SB=-81.37 GT:AD:DP:GL:GQ 1/1:0,43:41:-126.09,-12.38,-0.05:99 -chr1 4122935 rs4654414 G A 17.67 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=53.29;MQ0=0;OQ=1666.36;QD=36.23;SB=-267.85 GT:AD:DP:GL:GQ 1/1:1,45:42:-170.23,-12.65,-0.01:99 -chr1 4123288 rs4233261 T C 17.26 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=4.16;MQ=58.63;MQ0=0;OQ=2395.13;QD=34.71;SB=-1054.42 GT:AD:DP:GL:GQ 1/1:0,69:66:-243.12,-19.88,-0.02:99 -chr1 4123748 rs6679293 T C 176.14 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.14;MQ0=0;OQ=1906.56;QD=31.26;SB=-831.63 GT:AD:DP:GL:GQ 1/1:0,61:59:-194.29,-17.79,-0.05:99 -chr1 4123963 rs4654496 C T 83.64 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=60.00;MQ0=0;OQ=2067.60;QD=39.01;SB=-750.62 GT:AD:DP:GL:GQ 1/1:0,53:53:-210.36,-15.97,-0.02:99 -chr1 4124418 rs4654497 T C 597.93 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.67;MQ0=0;OQ=1506.19;QD=30.74;SB=-582.98 GT:AD:DP:GL:GQ 1/1:0,49:47:-154.24,-14.17,-0.04:99 -chr1 4126306 rs4367764 C T 454.46 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2115.14;QD=39.17;SB=-864.64 GT:AD:DP:GL:GQ 1/1:0,54:53:-215.11,-15.97,-0.01:99 -chr1 4127324 rs12123330 C T 249.14 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=1048.68;QD=17.77;SB=-496.03 GT:AD:DP:GL:GQ 0/1:27,32:56:-125.03,-16.88,-80.71:99 -chr1 4127494 rs4468133 G A 195.33 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=2.26;MQ=60.00;MQ0=0;OQ=1260.59;QD=18.01;SB=-425.95 GT:AD:DP:GL:GQ 0/1:31,38:68:-152.64,-23.30,-109.48:99 -chr1 4128172 rs4654498 A G 107.28 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=1.33;MQ=59.19;MQ0=0;OQ=2014.82;QD=35.35;SB=-1032.76 GT:AD:DP:GL:GQ 1/1:0,57:56:-205.08,-16.87,-0.01:99 -chr1 4128310 rs4654499 G T 305.85 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=983.44;QD=17.88;SB=-296.34 GT:AD:DP:GL:GQ 0/1:22,33:55:-118.19,-16.56,-78.95:99 -chr1 4130572 rs3890729 A T 141.84 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.07;MQ=59.18;MQ0=0;OQ=905.47;QD=17.75;SB=-227.90 GT:AD:DP:GL:GQ 0/1:23,28:51:-109.19,-15.36,-88.04:99 -chr1 4131311 rs10915460 G A 189.99 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.33;MQ=57.39;MQ0=0;OQ=480.50;QD=13.35;SB=-233.54 GT:AD:DP:GL:GQ 0/1:19,17:33:-61.28,-9.95,-54.49:99 -chr1 4131491 rs10915461 A G 151.47 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=2.56;MQ=51.87;MQ0=0;OQ=492.21;QD=9.65;SB=-268.94 GT:AD:DP:GL:GQ 0/1:28,23:49:-67.28,-14.77,-113.16:99 -chr1 4131545 rs10915462 T C 155.98 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=54.56;MQ0=0;OQ=299.94;QD=7.69;SB=-143.28 GT:AD:DP:GL:GQ 0/1:25,14:37:-44.43,-11.15,-99.76:99 -chr1 4131617 rs6688343 T C 208.72 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=2.28;MQ=58.31;MQ0=0;OQ=662.26;QD=13.25;SB=-230.45 GT:AD:DP:GL:GQ 0/1:25,25:48:-83.97,-14.46,-97.39:99 -chr1 4131656 rs6688428 T C 133.26 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.51;MQ=58.40;MQ0=0;OQ=444.13;QD=10.83;SB=-97.71 GT:AD:DP:GL:GQ 0/1:22,19:40:-59.75,-12.06,-84.80:99 -chr1 4131666 rs6688431 T C 70.94 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=58.40;MQ0=0;OQ=339.10;QD=8.27;SB=-98.71 GT:AD:DP:GL:GQ 0/1:23,18:37:-48.34,-11.15,-87.20:99 -chr1 4131704 . G A 41.43 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.69;MQ=58.60;MQ0=0;OQ=706.66;QD=14.13;SB=-238.75 GT:AD:DP:GL:GQ 0/1:28,22:49:-88.72,-14.77,-84.55:99 -chr1 4131824 rs12032295 C T 752.83 Indel AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=33.96;MQ0=0;QD=14.20;SB=-367.84 GT:AD:DP:GL:GQ 0/1:30,23:51:-93.93,-15.37,-94.00:99 -chr1 4132377 rs12405392 C T 226.32 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=4.69;MQ=59.66;MQ0=0;OQ=1021.86;QD=15.03;SB=-451.99 GT:AD:DP:GL:GQ 0/1:34,34:62:-124.15,-18.68,-109.47:99 -chr1 4132399 rs56827341 A G 272.74 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=59.66;MQ0=0;OQ=903.58;QD=13.29;SB=-319.89 GT:AD:DP:GL:GQ 0/1:32,36:65:-113.24,-19.60,-113.27:99 -chr1 4132555 rs11580927 G A 598.05 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=853.00;QD=13.76;SB=-450.44 GT:AD:DP:GL:GQ 0/1:34,28:61:-106.96,-18.38,-120.31:99 -chr1 4132654 rs11583685 T C 237.59 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=2.58;MQ=60.00;MQ0=0;OQ=809.75;QD=12.46;SB=-338.53 GT:AD:DP:GL:GQ 0/1:35,30:64:-103.54,-19.28,-136.81:99 -chr1 4134373 rs6690519 C T 596.27 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2577.92;QD=39.66;SB=-1051.40 GT:AD:DP:GL:GQ 1/1:0,65:64:-261.39,-19.28,-0.02:99 -chr1 4134652 rs12743431 G A 916.73 Indel AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=58.05;MQ0=0;QD=16.08;SB=-472.04 GT:AD:DP:GL:GQ 0/1:25,32:53:-110.92,-15.97,-91.04:99 -chr1 4134672 rs61037363 C T 207.69 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=1.58;MQ=58.34;MQ0=0;OQ=1244.96;QD=19.15;SB=-619.07 GT:AD:DP:GL:GQ 0/1:27,38:61:-146.16,-18.38,-83.21:99 -chr1 4135628 rs4654501 G A 449.34 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.45;MQ0=0;OQ=800.03;QD=17.78;SB=-327.85 GT:AD:DP:GL:GQ 0/1:21,24:44:-96.54,-13.26,-71.19:99 -chr1 4136297 rs4531262 C T 292.38 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.55;MQ0=0;OQ=900.23;QD=17.65;SB=-443.97 GT:AD:DP:GL:GQ 0/1:23,28:50:-108.37,-15.06,-81.34:99 -chr1 4136842 rs4233262 C T 514.56 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.69;MQ0=0;OQ=1175.57;QD=19.27;SB=-513.00 GT:AD:DP:GL:GQ 0/1:27,34:61:-139.22,-18.38,-97.14:99 -chr1 4137022 rs12726068 G A 202.41 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1078.50;QD=19.97;SB=-346.48 GT:AD:DP:GL:GQ 0/1:22,32:54:-127.40,-16.27,-78.49:99 -chr1 4137146 rs12741551 C T 188.79 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=2.60;MQ=60.00;MQ0=0;OQ=744.97;QD=14.06;SB=-275.26 GT:AD:DP:GL:GQ 0/1:28,23:51:-95.75,-17.97,-99.94:99 -chr1 4137455 rs34927664 C T 374.06 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.87;MQ0=0;OQ=672.79;QD=16.41;SB=-286.16 GT:AD:DP:GL:GQ 0/1:20,21:40:-82.61,-12.05,-71.71:99 -chr1 4137533 rs6687719 A G 359.14 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=59.55;MQ0=0;OQ=693.89;QD=13.61;SB=-371.11 GT:AD:DP:GL:GQ 0/1:24,27:51:-88.05,-15.37,-93.98:99 -chr1 4137942 rs4654415 A G 54.66 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=3;HaplotypeScore=0.52;MQ=59.28;MQ0=0;OQ=812.82;QD=15.63;SB=-375.38 GT:AD:DP:GL:GQ 0/1:23,29:51:-99.93,-15.36,-91.58:99 -chr1 4137964 rs4654416 T C 201.40 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.49;MQ=58.39;MQ0=0;OQ=863.33;QD=15.70;SB=-318.29 GT:AD:DP:GL:GQ 0/1:25,30:54:-105.89,-16.27,-96.91:99 -chr1 4138124 rs4654417 A G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.04;HRun=0;HaplotypeScore=22.45;MQ=53.05;MQ0=0;OQ=979.60;QD=14.62;SB=-425.14 GT:AD:DP:GL:GQ 0/1:30,34:67:-120.52,-19.28,-120.75:99 -chr1 4138539 rs10915465 C T 116.34 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=932.04;QD=16.95;SB=-231.54 GT:AD:DP:GL:GQ 0/1:26,28:51:-111.86,-15.37,-73.76:99 -chr1 4138848 rs4233263 T C 563.43 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.57;MQ0=0;OQ=1932.95;QD=31.18;SB=-950.38 GT:AD:DP:GL:GQ 1/1:0,61:61:-196.93,-18.40,-0.06:99 -chr1 4140038 rs4233264 T C 391.03 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.43;MQ0=0;OQ=1125.34;QD=13.89;SB=-437.57 GT:AD:DP:GL:GQ 0/1:41,40:80:-139.92,-24.10,-167.96:99 -chr1 4140287 rs4654502 A G 258.40 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=716.89;QD=12.36;SB=-328.15 GT:AD:DP:GL:GQ 0/1:28,30:57:-92.15,-17.18,-113.12:99 -chr1 4140357 rs4654503 A G 175.10 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.08;MQ=60.00;MQ0=0;OQ=528.96;QD=9.98;SB=-287.63 GT:AD:DP:GL:GQ 0/1:26,24:47:-70.35,-14.17,-96.77:99 -chr1 4140721 rs12074230 G C 441.98 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.79;MQ0=0;OQ=1211.59;QD=19.54;SB=-432.34 GT:AD:DP:GL:GQ 0/1:29,33:61:-142.82,-18.38,-122.06:99 -chr1 4141214 rs61770887 T A 176.81 Indel AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=41.85;MQ0=5;QD=2.39;SB=-58.97 GT:AD:DP:GL:GQ 0/1:35,39:44:-34.22,-13.25,-135.84:99 -chr1 4141739 . C G 151.90 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.44;MQ0=0;OQ=861.28;QD=11.64;SB=-403.50 GT:AD:DP:GL:GQ 0/1:45,29:72:-111.12,-21.71,-193.89:99 -chr1 4143108 rs7544125 G A 98.23 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=44.58;MQ0=4;OQ=463.56;QD=6.62;SB=-223.67 GT:AD:DP:GL:GQ 0/1:38,32:54:-65.91,-16.27,-136.81:99 -chr1 4143110 rs7515133 T G 11.80 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=44.83;MQ0=4;OQ=280.65;QD=3.95;SB=-136.72 GT:AD:DP:GL:GQ 0/1:40,31:55:-47.92,-16.57,-148.31:99 -chr1 4143183 rs4408123 T C 60.26 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=1.41;MQ=54.71;MQ0=0;OQ=2012.85;QD=31.45;SB=-855.54 GT:AD:DP:GL:GQ 1/1:0,63:62:-204.92,-18.70,-0.05:99 -chr1 4143665 rs4654505 C T 14.05 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=7.02;MQ=58.52;MQ0=0;OQ=1278.62;QD=17.05;SB=-644.75 GT:AD:DP:GL:GQ 0/1:36,39:72:-152.84,-21.70,-110.95:99 -chr1 4143971 rs56322069 G A 219.93 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=58.68;MQ0=0;OQ=1179.12;QD=14.38;SB=-509.98 GT:AD:DP:GL:GQ 0/1:47,35:78:-144.69,-23.49,-153.28:99 -chr1 4144717 rs4654419 G T 409.69 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=53.48;MQ0=0;OQ=576.97;QD=11.10;SB=-278.60 GT:AD:DP:GL:GQ 0/1:31,21:52:-76.65,-15.66,-108.30:99 -chr1 4144899 rs4654506 A G 59.06 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=3;HaplotypeScore=1.57;MQ=57.19;MQ0=0;OQ=798.47;QD=12.67;SB=-355.09 GT:AD:DP:GL:GQ 0/1:32,31:63:-102.12,-18.99,-128.03:99 -chr1 4145034 rs4654420 T C 208.27 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=57.63;MQ0=0;OQ=567.20;QD=9.30;SB=-299.19 GT:AD:DP:GL:GQ 0/1:35,26:59:-77.79,-17.78,-138.00:99 -chr1 4145265 rs10799210 A G 75.28 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=52.55;MQ0=0;OQ=2612.65;QD=35.79;SB=-1182.09 GT:AD:DP:GL:GQ 1/1:0,72:73:-267.51,-24.47,-2.66:99 -chr1 4146179 rs4354511 G A 19.37 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=3;HaplotypeScore=1.79;MQ=39.00;MQ0=1;OQ=2945.76;QD=39.28;SB=-1473.93 GT:AD:DP:GL:GQ 1/1:0,75:73:-298.18,-21.99,-0.02:99 -chr1 4146185 rs61770891 T G 349.70 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=40.44;MQ0=1;OQ=1123.38;QD=15.18;SB=-586.47 GT:AD:DP:GL:GQ 0/1:35,39:73:-137.61,-21.99,-124.99:99 -chr1 4146278 rs35969529 A C 46.41 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=2.80;MQ=52.18;MQ0=0;OQ=652.54;QD=12.55;SB=-341.77 GT:AD:DP:GL:GQ 0/1:27,25:52:-84.21,-15.67,-95.88:99 -chr1 4146315 rs34096100 G A 254.13 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=57.76;MQ0=0;OQ=657.20;QD=13.41;SB=-218.51 GT:AD:DP:GL:GQ 0/1:28,21:47:-83.18,-14.17,-82.42:99 -chr1 4146537 . C T 111.88 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.77;MQ=53.66;MQ0=1;OQ=1107.86;QD=16.06;SB=-448.39 GT:AD:DP:GL:GQ 0/1:34,35:67:-134.26,-20.19,-114.24:99 -chr1 4146953 rs4654421 T C 433.26 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.82;MQ0=0;OQ=2189.94;QD=31.74;SB=-1040.77 GT:AD:DP:GL:GQ 1/1:0,69:68:-222.64,-20.51,-0.06:99 -chr1 4147013 rs4654422 T A 163.99 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=56.20;MQ0=1;OQ=3024.40;QD=36.88;SB=-1331.44 GT:AD:DP:GL:GQ 1/1:1,80:81:-309.61,-27.75,-3.59:99 -chr1 4148323 rs35837871 C T 12.81 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=2.85;MQ=58.88;MQ0=0;OQ=689.43;QD=12.77;SB=-158.63 GT:AD:DP:GL:GQ 0/1:29,24:49:-86.99,-14.77,-93.34:99 -chr1 4148556 rs10753370 A G 191.60 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.30;MQ=57.40;MQ0=0;OQ=2083.85;QD=34.73;SB=-1040.92 GT:AD:DP:GL:GQ 1/1:0,60:59:-211.99,-17.77,-0.02:99 -chr1 4149011 rs12084286 A G 120.11 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.92;MQ=57.86;MQ0=0;OQ=472.12;QD=10.26;SB=-116.70 GT:AD:DP:GL:GQ 0/1:26,20:42:-63.15,-12.65,-98.66:99 -chr1 4149320 rs10733015 T C 59.23 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=3.72;MQ=56.65;MQ0=0;OQ=2004.37;QD=30.37;SB=-729.73 GT:AD:DP:GL:GQ 1/1:0,65:63:-204.08,-19.00,-0.06:99 -chr1 4149923 rs4654507 T C 369.93 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.77;MQ0=0;OQ=1162.12;QD=14.53;SB=-509.31 GT:AD:DP:GL:GQ 0/1:40,40:79:-143.29,-23.80,-162.73:99 -chr1 4150793 rs11808641 A G 288.49 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.73;MQ0=0;OQ=1163.51;QD=16.62;SB=-493.62 GT:AD:DP:GL:GQ 0/1:32,38:70:-140.72,-21.09,-129.98:99 -chr1 4151258 rs35392680 C A 277.92 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=1.25;MQ=59.48;MQ0=0;OQ=1358.51;QD=16.77;SB=-581.67 GT:AD:DP:GL:GQ 0/1:37,44:80:-163.23,-24.09,-127.72:99 -chr1 4151486 rs35452955 A T 64.63 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=0.98;MQ=60.00;MQ0=0;OQ=1469.46;QD=19.34;SB=-729.32 GT:AD:DP:GL:GQ 0/1:30,45:74:-172.52,-22.29,-110.18:99 -chr1 4151668 rs6703301 G T 631.77 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.77;MQ0=0;OQ=3028.09;QD=37.38;SB=-1101.60 GT:AD:DP:GL:GQ 1/1:0,81:80:-306.41,-24.09,-0.01:99 -chr1 4151981 rs34414875 C T 365.71 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1305.64;QD=16.32;SB=-537.52 GT:AD:DP:GL:GQ 0/1:41,39:80:-157.95,-24.10,-144.69:99 -chr1 4152854 rs10915467 A T 474.45 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.74;MQ0=0;OQ=1268.93;QD=17.38;SB=-610.43 GT:AD:DP:GL:GQ 0/1:33,40:72:-151.86,-21.68,-124.21:99 -chr1 4153158 rs12722935 C T 465.33 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1317.34;QD=16.26;SB=-636.13 GT:AD:DP:GL:GQ 0/1:41,40:80:-159.12,-24.10,-137.48:99 -chr1 4153203 rs55974255 T G 492.94 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1277.21;QD=15.39;SB=-533.71 GT:AD:DP:GL:GQ 0/1:38,45:83:-156.01,-25.00,-142.96:99 -chr1 4153672 rs6679104 T C 519.73 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.17;MQ0=0;OQ=1796.89;QD=30.98;SB=-648.94 GT:AD:DP:GL:GQ 1/1:0,58:56:-183.31,-16.88,-0.04:99 -chr1 4153751 rs12750830 G A 339.94 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=841.06;QD=12.19;SB=-424.91 GT:AD:DP:GL:GQ 0/1:41,27:67:-107.58,-20.19,-146.61:99 -chr1 4153835 rs12740143 T G 222.74 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=59.66;MQ0=0;OQ=767.69;QD=11.29;SB=-346.80 GT:AD:DP:GL:GQ 0/1:40,28:68:-100.53,-20.48,-145.06:99 -chr1 4154543 rs12143082 T C 171.80 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=2;HaplotypeScore=1.73;MQ=59.61;MQ0=1;OQ=1104.97;QD=14.17;SB=-407.20 GT:AD:DP:GL:GQ 0/1:39,39:74:-136.07,-22.29,-143.19:99 -chr1 4154828 rs4578184 A T 236.18 PASS AC=2;AF=1.00;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=59.74;MQ0=0;OQ=3286.63;QD=37.35;SB=-1618.09 GT:AD:DP:GL:GQ 1/1:0,87:86:-327.66,-25.90,-0.02:99 -chr1 4156046 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=80;Dels=0.01;HRun=20;HaplotypeScore=22.75;MQ=49.75;MQ0=0;OQ=501.86;QD=6.27;SB=92.27 GT:AD:DP:GL:GQ 0/1:48,31:64:-72.46,-18.99,-149.51:99 -chr1 4157196 rs4276878 C G 356.37 PASS AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=1452.13;QD=15.78;SB=-539.06 GT:AD:DP:GL:GQ 0/1:47,45:92:-176.24,-27.75,-207.05:99 -chr1 4159822 rs34626829 T C 256.76 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=60.00;MQ0=0;OQ=966.32;QD=13.24;SB=-369.17 GT:AD:DP:GL:GQ 0/1:40,33:72:-121.60,-21.69,-157.15:99 -chr1 4159905 rs4654509 T C 45.94 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=2;HaplotypeScore=1.31;MQ=59.48;MQ0=0;OQ=2796.88;QD=34.96;SB=-1388.49 GT:AD:DP:GL:GQ 1/1:0,80:80:-283.30,-24.10,-0.03:99 -chr1 4160278 rs6667065 G A 347.06 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=60.00;MQ0=0;OQ=1508.83;QD=20.12;SB=-751.28 GT:AD:DP:GL:GQ 0/1:32,43:74:-176.46,-22.30,-103.02:99 -chr1 4160487 rs6426401 C G 585.75 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.67;MQ0=0;OQ=2415.89;QD=43.14;SB=-1118.15 GT:AD:DP:GL:GQ 1/1:0,56:56:-245.19,-16.88,-0.02:99 -chr1 4163843 rs4654511 A G 129.93 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=2;HaplotypeScore=0.90;MQ=59.46;MQ0=0;OQ=1014.81;QD=11.80;SB=-473.86 GT:AD:DP:GL:GQ 0/1:46,40:85:-130.38,-25.61,-186.22:99 -chr1 4163857 rs4654512 A G 307.08 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=2.37;MQ=59.44;MQ0=0;OQ=1070.59;QD=12.90;SB=-521.48 GT:AD:DP:GL:GQ 0/1:46,37:83:-135.34,-25.00,-185.85:99 -chr1 4164344 rs4529679 G C 272.38 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=2.61;MQ=59.36;MQ0=0;OQ=772.49;QD=10.73;SB=-392.69 GT:AD:DP:GL:GQ 0/1:46,26:70:-101.64,-21.10,-199.05:99 -chr1 4166949 rs16840901 T C 388.35 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=59.68;MQ0=0;OQ=1039.54;QD=14.24;SB=-434.53 GT:AD:DP:GL:GQ 0/1:37,36:73:-129.23,-21.99,-150.63:99 -chr1 4167749 rs10915471 T G 58.03 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=3.59;MQ=59.58;MQ0=0;OQ=744.43;QD=13.54;SB=-264.89 GT:AD:DP:GL:GQ 0/1:27,27:49:-92.49,-14.76,-80.31:99 -chr1 4168111 rs35122589 C T 228.78 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=1.76;MQ=59.26;MQ0=0;OQ=1364.57;QD=16.64;SB=-443.34 GT:AD:DP:GL:GQ 0/1:40,41:80:-163.84,-24.10,-142.82:99 -chr1 4168454 rs12095632 C G 92.77 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=2.95;MQ=59.32;MQ0=0;OQ=1054.00;QD=19.16;SB=-475.80 GT:AD:DP:GL:GQ 0/1:24,31:54:-124.96,-16.28,-104.73:99 -chr1 4168730 rs4130091 T C 180.54 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.33;MQ0=0;OQ=1367.19;QD=28.48;SB=-696.78 GT:AD:DP:GL:GQ 1/1:0,48:44:-140.35,-13.27,-0.05:99 -chr1 4169351 rs6426402 G T 131.41 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=3.41;MQ=58.55;MQ0=0;OQ=809.13;QD=11.40;SB=-425.17 GT:AD:DP:GL:GQ 0/1:41,30:69:-104.98,-20.78,-138.71:99 -chr1 4169394 rs6426403 C G 338.24 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=57.89;MQ0=0;OQ=727.35;QD=12.99;SB=-274.92 GT:AD:DP:GL:GQ 0/1:33,23:54:-92.30,-16.28,-134.02:99 -chr1 4169498 rs6426404 G A 414.13 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=58.75;MQ0=0;OQ=1380.19;QD=18.40;SB=-605.61 GT:AD:DP:GL:GQ 0/1:34,41:72:-163.00,-21.69,-105.58:99 -chr1 4169658 rs60017975 A G 318.13 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.77;MQ0=0;OQ=1450.14;QD=18.13;SB=-530.63 GT:AD:DP:GL:GQ 0/1:31,49:79:-172.10,-23.80,-127.67:99 -chr1 4170881 rs7550659 A G 248.87 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=51.70;MQ0=0;OQ=2075.07;QD=30.97;SB=-804.69 GT:AD:DP:GL:GQ 1/1:0,66:63:-211.13,-18.99,-0.04:99 -chr1 4171135 rs10799212 A G 40.61 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=3.91;MQ=40.70;MQ0=1;OQ=2175.11;QD=31.07;SB=-612.96 GT:AD:DP:GL:GQ 1/1:1,69:67:-221.14,-20.20,-0.04:99 -chr1 4171182 rs12410442 G A 385.57 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=27.19;MQ0=4;OQ=361.27;QD=10.95;SB=-197.20 GT:AD:DP:GL:GQ 0/1:20,13:27:-47.55,-8.14,-48.20:99 -chr1 4171315 . C A 41.63 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=20;HaplotypeScore=7.30;MQ=33.40;MQ0=5;QD=0.97;SB=41.16 GT:AD:DP:GL:GQ 0/1:37,6:31:-16.79,-9.34,-90.98:74.46 -chr1 4171344 rs10799213 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.01;HRun=20;HaplotypeScore=28.32;MQ=47.02;MQ0=1;OQ=768.09;QD=11.30;SB=-343.49 GT:AD:DP:GL:GQ 0/1:35,32:53:-95.75,-15.66,-101.72:99 -chr1 4171386 rs12022636 C A 71.32 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=6.39;MQ=55.43;MQ0=0;OQ=1032.82;QD=16.66;SB=-507.94 GT:AD:DP:GL:GQ 0/1:28,34:59:-124.34,-17.77,-88.85:99 -chr1 4171443 rs10799214 T A 380.15 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=1.02;MQ=52.31;MQ0=0;OQ=893.79;QD=14.65;SB=-401.19 GT:AD:DP:GL:GQ 0/1:30,31:58:-110.14,-17.48,-102.42:99 -chr1 4171775 rs7553814 A G 404.78 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.01;MQ0=0;OQ=970.08;QD=12.93;SB=-503.90 GT:AD:DP:GL:GQ 0/1:40,35:74:-122.58,-22.29,-161.95:99 -chr1 4171833 rs7553919 A G 37.31 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=3;HaplotypeScore=0.95;MQ=59.60;MQ0=0;OQ=2384.19;QD=34.55;SB=-1112.82 GT:AD:DP:GL:GQ 1/1:0,69:66:-242.02,-19.88,-0.02:99 -chr1 4171990 rs7554028 A G 628.72 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.32;MQ0=1;OQ=2341.28;QD=30.02;SB=-854.63 GT:AD:DP:GL:GQ 1/1:0,78:76:-237.79,-22.93,-0.08:99 -chr1 4173512 rs7517572 T A 699.45 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.76;MQ0=0;OQ=2653.94;QD=34.47;SB=-1331.37 GT:AD:DP:GL:GQ 1/1:0,77:72:-269.00,-21.69,-0.02:99 -chr1 4173702 rs10753372 T C 483.13 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.88;MQ0=0;OQ=510.62;QD=9.82;SB=-265.21 GT:AD:DP:GL:GQ 0/1:30,22:52:-70.02,-15.68,-118.09:99 -chr1 4173822 rs10737404 T C 229.86 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1647.35;QD=29.95;SB=-655.93 GT:AD:DP:GL:GQ 1/1:0,55:53:-168.37,-15.99,-0.05:99 -chr1 4174045 rs10915473 C T 65.29 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=45.21;MQ0=0;OQ=1332.73;QD=36.02;SB=-585.26 GT:AD:DP:GL:GQ 1/1:0,37:35:-136.87,-10.55,-0.02:99 -chr1 4174057 . C T 1039.01 SnpCluster AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=42.84;MQ0=0;QD=33.52;SB=-399.52 GT:AD:DP:GL:GQ 1/1:2,29:27:-107.50,-8.14,-0.01:81.26 -chr1 4174060 . A C 853.72 SnpCluster AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;HRun=2;HaplotypeScore=1.07;MQ=43.67;MQ0=0;QD=27.54;SB=-294.55 GT:AD:DP:GL:GQ 1/1:0,31:26:-88.97,-7.83,-0.01:78.20 -chr1 4174064 . A C 949.90 SnpCluster AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=44.60;MQ0=0;QD=28.78;SB=-378.69 GT:AD:DP:GL:GQ 1/1:0,33:28:-98.58,-8.43,-0.01:84.24 -chr1 4174382 rs1908491 C T 0.38 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=6.22;MQ=54.65;MQ0=0;OQ=1883.08;QD=36.21;SB=-503.01 GT:AD:DP:GL:GQ 1/1:0,52:48:-191.91,-14.46,-0.01:99 -chr1 4174484 rs10915474 T A 225.63 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=55.68;MQ0=0;OQ=801.30;QD=15.41;SB=-299.67 GT:AD:DP:GL:GQ 0/1:26,26:51:-98.78,-15.36,-93.02:99 -chr1 4174489 rs1908492 C T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=7;HaplotypeScore=1.12;MQ=55.99;MQ0=0;OQ=1860.19;QD=37.20;SB=-932.70 GT:AD:DP:GL:GQ 1/1:0,50:48:-189.62,-14.46,-0.02:99 -chr1 4174597 rs1908493 C T 268.28 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.14;MQ=59.04;MQ0=0;OQ=2611.89;QD=38.41;SB=-1140.03 GT:AD:DP:GL:GQ 1/1:0,68:66:-264.79,-19.88,-0.02:99 -chr1 4174874 rs1495245 T A 732.53 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.39;MQ0=0;OQ=2554.22;QD=37.56;SB=-1304.61 GT:AD:DP:GL:GQ 1/1:0,68:68:-259.02,-20.48,-0.02:99 -chr1 4174974 rs11578399 C A 12.83 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=3.61;MQ=59.22;MQ0=0;OQ=421.58;QD=7.81;SB=-139.06 GT:AD:DP:GL:GQ 0/1:37,17:52:-61.11,-15.67,-117.17:99 -chr1 4175032 rs1495246 C G 204.50 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=3.07;MQ=56.85;MQ0=0;OQ=2607.23;QD=39.50;SB=-1308.71 GT:AD:DP:GL:GQ 1/1:0,66:62:-264.33,-18.68,-0.02:99 -chr1 4175046 . T G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=2;HaplotypeScore=9.95;MQ=56.80;MQ0=0;OQ=180.72;QD=2.78;SB=92.29 GT:AD:DP:GL:GQ 0/1:40,25:50:-36.42,-15.06,-130.62:99 -chr1 4175151 rs10915476 G A 237.61 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.01;MQ0=0;OQ=567.09;QD=12.07;SB=-92.91 GT:AD:DP:GL:GQ 0/1:29,18:45:-73.55,-13.56,-90.83:99 -chr1 4175279 rs1495247 C T 209.45 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.34;MQ0=0;OQ=2597.96;QD=37.11;SB=-1279.76 GT:AD:DP:GL:GQ 1/1:0,70:67:-263.40,-20.19,-0.02:99 -chr1 4175302 rs7411802 C A 438.30 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=58.93;MQ0=0;OQ=2181.45;QD=35.76;SB=-1110.34 GT:AD:DP:GL:GQ 1/1:0,61:61:-221.75,-18.37,-0.02:99 -chr1 4175576 rs4326593 G A 325.64 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=55.58;MQ0=0;OQ=888.28;QD=16.76;SB=-433.95 GT:AD:DP:GL:GQ 0/1:25,28:48:-106.58,-14.47,-68.77:99 -chr1 4175736 rs4615813 G C 667.23 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=51.55;MQ0=0;OQ=2403.10;QD=41.43;SB=-1195.96 GT:AD:DP:GL:GQ 1/1:0,58:56:-243.91,-16.87,-0.02:99 -chr1 4175807 rs28600106 C T 6.13 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=7.59;MQ=48.39;MQ0=0;OQ=365.75;QD=9.89;SB=-206.69 GT:AD:DP:GL:GQ 0/1:22,15:31:-49.20,-9.35,-60.01:99 -chr1 4175944 rs2898790 T C 0.54 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=5.41;MQ=54.62;MQ0=0;OQ=1686.61;QD=30.67;SB=-329.61 GT:AD:DP:GL:GQ 1/1:0,55:50:-172.27,-15.06,-0.02:99 -chr1 4176053 rs2411737 G C 0.30 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=4.08;MQ=49.96;MQ0=0;OQ=907.29;QD=30.24;SB=-45.91 GT:AD:DP:GL:GQ 1/1:0,30:23:-94.32,-6.93,-0.01:69.23 -chr1 4176083 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=2;HaplotypeScore=5.12;MQ=50.79;MQ0=0;OQ=53.84;QD=1.17;SB=68.23 GT:AD:DP:GL:GQ 0/1:30,16:35:-19.21,-10.54,-99.51:86.68 -chr1 4176698 rs10915477 G A 75.54 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.00;HRun=2;HaplotypeScore=1.92;MQ=55.80;MQ0=0;OQ=3415.18;QD=40.18;SB=-1433.92 GT:AD:DP:GL:GQ 1/1:0,85:84:-340.52,-25.30,-0.02:99 -chr1 4176748 rs12060660 A C 70.84 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=3.65;MQ=58.23;MQ0=0;OQ=2781.95;QD=35.21;SB=-941.32 GT:AD:DP:GL:GQ 1/1:0,78:78:-285.04,-25.98,-3.27:99 -chr1 4176763 rs10915478 T C 721.59 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.18;MQ0=0;OQ=2617.35;QD=33.99;SB=-1088.89 GT:AD:DP:GL:GQ 1/1:0,77:74:-265.34,-22.29,-0.02:99 -chr1 4176794 rs12060664 A G 585.06 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2362.72;QD=33.28;SB=-1094.09 GT:AD:DP:GL:GQ 1/1:0,71:67:-239.88,-20.19,-0.03:99 -chr1 4177795 rs4654423 T C 596.30 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.67;MQ0=0;OQ=1639.97;QD=29.29;SB=-739.78 GT:AD:DP:GL:GQ 1/1:0,56:52:-167.62,-15.68,-0.04:99 -chr1 4177808 rs10915479 T C 281.74 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.62;MQ0=0;OQ=507.44;QD=10.36;SB=-255.93 GT:AD:DP:GL:GQ 0/1:30,19:46:-67.89,-13.86,-108.27:99 -chr1 4179046 rs12116719 G A 182.10 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=60.00;MQ0=0;OQ=2853.60;QD=39.09;SB=-1453.00 GT:AD:DP:GL:GQ 1/1:0,73:73:-288.97,-22.00,-0.02:99 -chr1 4179422 rs59176411 C T 132.99 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=3.16;MQ=56.41;MQ0=0;OQ=2598.61;QD=37.12;SB=-1098.00 GT:AD:DP:GL:GQ 1/1:1,69:68:-267.13,-20.49,-3.69:99 -chr1 4179485 rs10737405 A G 230.94 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=55.59;MQ0=0;OQ=1795.14;QD=34.52;SB=-680.95 GT:AD:DP:GL:GQ 1/1:1,51:52:-187.08,-15.66,-3.98:99 -chr1 4180030 rs6657617 C T 6.27 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=3;HaplotypeScore=2.45;MQ=59.28;MQ0=0;OQ=2474.15;QD=38.66;SB=-836.62 GT:AD:DP:GL:GQ 1/1:0,64:62:-251.01,-18.68,-0.02:99 -chr1 4180081 rs6426405 G A 604.48 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2617.17;QD=39.06;SB=-1069.36 GT:AD:DP:GL:GQ 1/1:0,67:67:-265.32,-20.19,-0.02:99 -chr1 4180490 rs4592237 G A 306.85 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.29;MQ0=0;OQ=1850.80;QD=34.92;SB=-947.36 GT:AD:DP:GL:GQ 1/1:0,53:49:-188.69,-14.77,-0.02:99 -chr1 4181020 rs10799216 G A 235.59 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=1.51;MQ=59.57;MQ0=0;OQ=3471.51;QD=40.37;SB=-1574.60 GT:AD:DP:GL:GQ 1/1:0,86:85:-346.15,-25.60,-0.02:99 -chr1 4181670 rs4233265 T C 517.98 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.29;MQ0=0;OQ=2065.74;QD=31.30;SB=-824.68 GT:AD:DP:GL:GQ 1/1:0,66:65:-210.21,-19.60,-0.06:99 -chr1 4182159 rs4654425 A G 260.71 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.64;MQ0=0;OQ=1828.94;QD=35.17;SB=-776.99 GT:AD:DP:GL:GQ 1/1:0,52:51:-186.50,-15.36,-0.02:99 -chr1 4182646 rs11579829 C T 305.04 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.69;MQ0=0;OQ=2773.62;QD=37.48;SB=-1347.81 GT:AD:DP:GL:GQ 1/1:0,74:71:-280.97,-21.39,-0.02:99 -chr1 4183175 rs2132177 C A 639.97 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2919.91;QD=36.50;SB=-1144.30 GT:AD:DP:GL:GQ 1/1:0,80:79:-295.60,-23.79,-0.02:99 -chr1 4184348 rs55978003 G A 105.51 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=2.52;MQ=59.27;MQ0=0;OQ=776.05;QD=15.22;SB=-305.78 GT:AD:DP:GL:GQ 0/1:27,23:48:-95.35,-14.46,-90.95:99 -chr1 4184779 rs7528938 C T 220.92 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=59.11;MQ0=0;OQ=1623.71;QD=34.55;SB=-657.89 GT:AD:DP:GL:GQ 1/1:1,44:43:-165.98,-12.96,-0.02:99 -chr1 4185286 rs17415519 A G 242.16 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=1.28;MQ=60.00;MQ0=0;OQ=1345.26;QD=33.63;SB=-658.93 GT:AD:DP:GL:GQ 1/1:0,40:39:-138.12,-11.75,-0.01:99 -chr1 4185339 . G T 41.06 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=12;HaplotypeScore=2.80;MQ=54.83;MQ0=0;QD=0.98;SB=22.81 GT:AD:DP:GL:GQ 0/1:35,7:35:-17.93,-10.54,-103.81:73.90 -chr1 4185557 rs4654516 G C 54.16 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=1.67;MQ=58.74;MQ0=0;OQ=2607.62;QD=37.25;SB=-842.00 GT:AD:DP:GL:GQ 1/1:1,69:66:-264.40,-19.92,-0.05:99 -chr1 4187570 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=84;Dels=0.00;HRun=2;HaplotypeScore=8.14;MQ=58.89;MQ0=0;OQ=68.10;QD=0.81;SB=131.41 GT:AD:DP:GL:GQ 0/1:59,24:60:-28.18,-18.09,-178.30:99 -chr1 4188372 rs1874267 T G 455.60 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=59.37;MQ0=0;OQ=1048.28;QD=15.88;SB=-524.40 GT:AD:DP:GL:GQ 0/1:29,37:66:-127.99,-19.88,-107.31:99 -chr1 4188412 rs1874266 A G 468.39 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.24;MQ0=0;OQ=798.75;QD=14.52;SB=-409.67 GT:AD:DP:GL:GQ 0/1:23,32:52:-98.84,-15.68,-83.89:99 -chr1 4188663 rs10915480 A G 337.33 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=59.23;MQ0=0;OQ=1153.25;QD=13.73;SB=-560.60 GT:AD:DP:GL:GQ 0/1:38,45:83:-146.27,-27.66,-153.88:99 -chr1 4188905 rs10753374 A G 386.21 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=1195.33;QD=15.73;SB=-552.85 GT:AD:DP:GL:GQ 0/1:35,41:76:-145.71,-22.90,-141.29:99 -chr1 4189544 rs10753375 T G 601.10 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.67;MQ0=0;OQ=1995.47;QD=35.01;SB=-845.10 GT:AD:DP:GL:GQ 1/1:0,57:56:-203.15,-16.86,-0.01:99 -chr1 4189582 rs10799217 A G 68.61 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=-0.06;MQ=59.39;MQ0=0;OQ=909.16;QD=14.90;SB=-461.96 GT:AD:DP:GL:GQ 0/1:30,31:61:-112.58,-18.38,-119.06:99 -chr1 4189759 rs10799218 T C 84.36 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=3;HaplotypeScore=1.76;MQ=58.80;MQ0=0;OQ=827.52;QD=11.18;SB=-285.14 GT:AD:DP:GL:GQ 0/1:41,32:73:-108.03,-22.00,-167.09:99 -chr1 4191122 rs6426406 T C 3.61 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=7.31;MQ=59.57;MQ0=0;OQ=717.35;QD=10.71;SB=-224.24 GT:AD:DP:GL:GQ 0/1:37,30:64:-94.30,-19.28,-145.85:99 -chr1 4191702 rs7541544 T C 425.11 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=59.70;MQ0=0;OQ=729.14;QD=11.76;SB=-343.04 GT:AD:DP:GL:GQ 0/1:32,30:60:-94.28,-18.09,-122.33:99 -chr1 4191813 rs7534461 C G 457.73 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.78;MQ0=0;OQ=1324.41;QD=15.96;SB=-593.50 GT:AD:DP:GL:GQ 0/1:46,37:83:-160.73,-25.00,-206.24:99 -chr1 4191898 rs7534558 C T 290.90 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=60.00;MQ0=0;OQ=1246.57;QD=14.17;SB=-621.73 GT:AD:DP:GL:GQ 0/1:50,38:86:-153.86,-25.92,-153.30:99 -chr1 4191985 rs10799219 G C 69.97 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=2.07;MQ=59.38;MQ0=0;OQ=1617.32;QD=21.86;SB=-548.71 GT:AD:DP:GL:GQ 0/1:32,42:72:-186.71,-21.70,-128.86:99 -chr1 4192218 rs10159168 A T 343.86 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=60.00;MQ0=0;OQ=1388.76;QD=16.94;SB=-472.56 GT:AD:DP:GL:GQ 0/1:39,43:82:-166.86,-24.70,-146.13:99 -chr1 4195817 rs1390135 T G 143.92 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=58.67;MQ0=0;OQ=705.86;QD=11.20;SB=-334.03 GT:AD:DP:GL:GQ 0/1:33,30:61:-92.25,-18.38,-113.54:99 -chr1 4197896 . G A 10.32 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.52;MQ0=0;OQ=1035.41;QD=21.57;SB=-410.45 GT:AD:DP:GL:GQ 0/1:18,30:48:-121.29,-14.46,-58.46:99 -chr1 4198535 rs1495242 A G 438.02 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=1076.27;QD=12.97;SB=-544.21 GT:AD:DP:GL:GQ 0/1:44,39:81:-135.31,-24.40,-175.25:99 -chr1 4199191 rs12124378 C T 379.71 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.35;MQ0=0;OQ=1302.45;QD=20.35;SB=-581.61 GT:AD:DP:GL:GQ 0/1:26,38:63:-152.50,-18.97,-95.47:99 -chr1 4199881 . G T 32.56 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=2;HaplotypeScore=5.28;MQ=57.83;MQ0=0;QD=0.74;SB=74.26 GT:AD:DP:GL:GQ 0/1:31,13:34:-16.78,-10.24,-105.31:65.40 -chr1 4200007 . G A 96.98 PASS AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=59.35;MQ0=0;OQ=1236.21;QD=18.45;SB=-537.73 GT:AD:DP:GL:GQ 0/1:28,39:63:-145.88,-18.98,-96.95:99 -chr1 4200165 rs6426407 A G 72.52 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=58.49;MQ0=0;OQ=1344.67;QD=18.17;SB=-519.96 GT:AD:DP:GL:GQ 0/1:29,44:72:-159.44,-21.69,-113.24:99 -chr1 4200817 rs4654518 G A 711.75 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.74;MQ0=0;OQ=2818.25;QD=39.69;SB=-1209.38 GT:AD:DP:GL:GQ 1/1:0,71:70:-285.42,-21.08,-0.01:99 -chr1 4202021 rs12124548 G A 209.11 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=59.70;MQ0=0;OQ=1241.05;QD=20.02;SB=-465.47 GT:AD:DP:GL:GQ 0/1:26,36:61:-145.77,-18.38,-85.04:99 -chr1 4202445 rs12405770 A G 576.59 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1249.87;QD=15.62;SB=-595.92 GT:AD:DP:GL:GQ 0/1:37,43:79:-152.07,-23.80,-148.48:99 -chr1 4202474 rs6426409 T G 405.59 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.78;MQ0=0;OQ=1102.86;QD=13.13;SB=-556.72 GT:AD:DP:GL:GQ 0/1:44,40:82:-138.27,-24.70,-157.66:99 -chr1 4204888 rs12132080 A T 242.23 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=1.72;MQ=45.12;MQ0=6;OQ=964.76;QD=12.69;SB=-408.56 GT:AD:DP:GL:GQ 0/1:34,42:65:-119.34,-19.58,-129.51:99 -chr1 4208143 rs6690300 T G 448.20 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.45;MQ0=0;OQ=967.38;QD=12.73;SB=-340.51 GT:AD:DP:GL:GQ 0/1:41,35:76:-122.91,-22.89,-152.81:99 -chr1 4208388 rs12239600 T C 466.70 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.66;MQ0=0;OQ=937.21;QD=13.78;SB=-484.77 GT:AD:DP:GL:GQ 0/1:32,36:68:-117.50,-20.50,-127.59:99 -chr1 4208894 rs12078298 T A 402.94 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=59.48;MQ0=0;OQ=1434.64;QD=16.12;SB=-624.40 GT:AD:DP:GL:GQ 0/1:43,46:88:-173.25,-26.51,-162.85:99 -chr1 4209813 rs6679489 G A 164.07 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=2;HaplotypeScore=1.52;MQ=60.00;MQ0=0;OQ=1435.86;QD=16.89;SB=-638.14 GT:AD:DP:GL:GQ 0/1:41,44:83:-171.87,-25.00,-148.88:99 -chr1 4211295 rs4654519 C T 437.58 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.97;MQ0=0;OQ=1264.42;QD=19.76;SB=-439.80 GT:AD:DP:GL:GQ 0/1:26,38:62:-148.40,-18.68,-90.27:99 -chr1 4211773 rs10915487 T G 175.84 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=59.23;MQ0=0;OQ=638.07;QD=10.29;SB=-306.76 GT:AD:DP:GL:GQ 0/1:37,25:61:-85.47,-18.38,-128.27:99 -chr1 4212065 rs1908490 C T 369.52 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=57.82;MQ0=0;OQ=1109.73;QD=15.20;SB=-541.53 GT:AD:DP:GL:GQ 0/1:40,33:71:-135.64,-21.39,-134.48:99 -chr1 4213163 rs12741715 A T 578.55 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.69;MQ0=0;OQ=1267.51;QD=16.90;SB=-452.19 GT:AD:DP:GL:GQ 0/1:35,40:74:-152.32,-22.29,-133.91:99 -chr1 4215064 rs966321 G T 6.64 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=4;HaplotypeScore=2.95;MQ=59.70;MQ0=0;OQ=1037.52;QD=13.65;SB=-540.72 GT:AD:DP:GL:GQ 0/1:40,36:75:-129.62,-22.59,-142.94:99 -chr1 4215408 rs12691488 C T 601.59 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=1073.26;QD=16.02;SB=-541.06 GT:AD:DP:GL:GQ 0/1:35,32:66:-130.50,-19.89,-109.64:99 -chr1 4216644 rs964715 T C 389.60 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=939.74;QD=14.46;SB=-445.57 GT:AD:DP:GL:GQ 0/1:32,33:65:-116.84,-19.58,-130.15:99 -chr1 4217111 rs1495250 T C 316.94 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=60.00;MQ0=0;OQ=777.71;QD=11.44;SB=-393.04 GT:AD:DP:GL:GQ 0/1:36,32:67:-101.25,-20.19,-143.99:99 -chr1 4218910 rs11583756 G A 393.34 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=60.00;MQ0=0;OQ=562.25;QD=10.41;SB=-300.82 GT:AD:DP:GL:GQ 0/1:33,21:51:-74.88,-15.38,-106.07:99 -chr1 4219107 rs7545415 G A 274.25 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=59.24;MQ0=0;OQ=794.53;QD=14.45;SB=-389.90 GT:AD:DP:GL:GQ 0/1:30,25:51:-98.11,-15.38,-85.30:99 -chr1 4221548 rs1826719 G A 1.65 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.02;HRun=1;HaplotypeScore=9.57;MQ=59.01;MQ0=0;OQ=1104.32;QD=16.73;SB=-370.86 GT:AD:DP:GL:GQ 0/1:31,34:63:-132.39,-18.68,-107.97:99 -chr1 4221834 rs1390137 T A 402.30 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.24;MQ0=0;OQ=1338.31;QD=14.71;SB=-600.22 GT:AD:DP:GL:GQ 0/1:48,43:91:-164.52,-27.41,-184.18:99 -chr1 4222993 rs7526339 A G 180.71 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=0.73;MQ=60.00;MQ0=0;OQ=860.50;QD=13.04;SB=-424.26 GT:AD:DP:GL:GQ 0/1:36,30:65:-108.91,-19.58,-143.92:99 -chr1 4225449 rs9286982 A C 384.55 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=59.50;MQ0=0;OQ=1099.77;QD=14.66;SB=-338.80 GT:AD:DP:GL:GQ 0/1:38,37:74:-135.55,-22.29,-134.84:99 -chr1 4226228 rs2411738 G A 332.71 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=60.00;MQ0=0;OQ=1328.38;QD=18.98;SB=-511.52 GT:AD:DP:GL:GQ 0/1:30,40:68:-156.63,-20.50,-89.85:99 -chr1 4227495 rs2101576 C T 457.85 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=59.43;MQ0=0;OQ=1111.42;QD=15.22;SB=-551.59 GT:AD:DP:GL:GQ 0/1:39,34:73:-136.43,-22.01,-124.07:99 -chr1 4227724 rs10915493 G A 108.64 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=2.47;MQ=60.00;MQ0=0;OQ=1106.23;QD=18.75;SB=-402.40 GT:AD:DP:GL:GQ 0/1:26,33:59:-131.68,-17.78,-92.93:99 -chr1 4228365 . G A 59.74 PASS AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=1;HaplotypeScore=2.28;MQ=58.73;MQ0=0;OQ=1218.17;QD=16.69;SB=-516.71 GT:AD:DP:GL:GQ 0/1:36,37:71:-146.49,-21.39,-124.67:99 -chr1 4228440 rs11586171 G A 378.40 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=59.25;MQ0=0;OQ=793.38;QD=14.17;SB=-261.74 GT:AD:DP:GL:GQ 0/1:30,26:52:-98.30,-15.68,-86.01:99 -chr1 4228626 rs10799221 A G 244.66 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=59.55;MQ0=0;OQ=773.13;QD=15.16;SB=-359.35 GT:AD:DP:GL:GQ 0/1:24,27:50:-95.66,-15.07,-89.39:99 -chr1 4230147 rs6677984 A G 313.94 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.80;MQ0=0;OQ=752.97;QD=10.61;SB=-294.25 GT:AD:DP:GL:GQ 0/1:36,35:64:-97.88,-19.30,-127.54:99 -chr1 4231035 . G A 41.87 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=3.60;MQ=59.27;MQ0=0;OQ=1023.37;QD=17.95;SB=-471.06 GT:AD:DP:GL:GQ 0/1:23,34:54:-121.89,-16.27,-83.08:99 -chr1 4231643 rs4654426 A G 357.68 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=59.13;MQ0=0;OQ=804.91;QD=14.63;SB=-368.10 GT:AD:DP:GL:GQ 0/1:22,33:51:-99.15,-15.37,-84.11:99 -chr1 4232195 . G A 71.35 PASS AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=60.00;MQ0=0;OQ=896.42;QD=13.18;SB=-396.87 GT:AD:DP:GL:GQ 0/1:39,29:68:-113.42,-20.50,-128.87:99 -chr1 4232590 rs7527612 G A 196.65 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.22;MQ=59.61;MQ0=0;OQ=598.22;QD=12.46;SB=-285.21 GT:AD:DP:GL:GQ 0/1:26,20:44:-76.37,-13.26,-81.07:99 -chr1 4233150 rs10737406 C T 190.39 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=1662.89;QD=19.34;SB=-750.79 GT:AD:DP:GL:GQ 0/1:38,48:86:-195.48,-25.90,-136.98:99 -chr1 4233365 rs10737407 T C 106.83 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=59.79;MQ0=0;OQ=829.78;QD=9.43;SB=-420.85 GT:AD:DP:GL:GQ 0/1:52,36:87:-112.48,-26.22,-211.16:99 -chr1 4233528 rs10737408 T C 490.54 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.74;MQ0=0;OQ=1057.73;QD=14.90;SB=-414.29 GT:AD:DP:GL:GQ 0/1:30,41:71:-130.46,-21.40,-122.91:99 -chr1 4233635 rs10799223 G C 53.92 PASS AC=1;AF=0.50;AN=2;DB;DP=99;Dels=0.00;HRun=0;HaplotypeScore=4.97;MQ=59.34;MQ0=0;OQ=1650.26;QD=16.67;SB=-729.99 GT:AD:DP:GL:GQ 0/1:53,46:99:-198.14,-29.83,-227.12:99 -chr1 4234047 rs12095914 C T 0.73 PASS AC=1;AF=0.50;AN=2;DB;DP=14;Dels=0.00;HRun=0;HaplotypeScore=9.26;MQ=42.37;MQ0=0;OQ=137.29;QD=9.81;SB=-42.54 GT:AD:DP:GL:GQ 0/1:9,5:10:-20.03,-3.01,-17.15:99 -chr1 4234051 rs56077919 C T 1.78 PASS AC=1;AF=0.50;AN=2;DB;DP=12;Dels=0.00;HRun=0;HaplotypeScore=7.11;MQ=38.66;MQ0=0;OQ=106.65;QD=8.89;SB=-40.54 GT:AD:DP:GL:GQ 0/1:8,4:8:-16.36,-2.41,-14.46:99 -chr1 4234076 . T C 1.57 PASS AC=1;AF=0.50;AN=2;DP=9;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=36.23;MQ0=1;OQ=55.15;QD=6.13;SB=-6.99 GT:AD:DP:GL:GQ 0/1:6,3:7:-10.91,-2.11,-15.53:87.98 -chr1 4234095 rs12752111 C T 29.22 LowQual AC=1;AF=0.50;AN=2;DB;DP=8;Dels=0.00;HRun=1;HaplotypeScore=2.44;MQ=42.08;MQ0=1;QD=3.65;SB=-10.00 GT:AD:DP:GL:GQ 0/1:5,3:6:-8.01,-1.81,-14.07:62.05 -chr1 4234115 . T C 41.10 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=0;HaplotypeScore=27.16;MQ=46.57;MQ0=0;QD=2.94;SB=-6.99 GT:AD:DP:GL:GQ 0/1:10,4:11:-10.71,-3.31,-31.76:73.94 -chr1 4234119 . T C 26.07 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=19;Dels=0.00;HRun=0;HaplotypeScore=23.15;MQ=48.70;MQ0=0;QD=1.37;SB=-6.99 GT:AD:DP:GL:GQ 0/1:13,6:15:-10.41,-4.52,-48.38:58.90 -chr1 4234123 . T C 99.42 SnpCluster AC=1;AF=0.50;AN=2;DP=22;Dels=0.00;HRun=0;HaplotypeScore=15.26;MQ=47.83;MQ0=0;QD=4.52;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,7:16:-18.04,-4.82,-44.01:99 -chr1 4234141 . C T 11.93 LowQual AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=3;HaplotypeScore=2.90;MQ=45.82;MQ0=0;QD=0.38;SB=-10.00 GT:AD:DP:GL:GQ 0/1:27,4:24:-11.68,-7.23,-69.44:44.48 -chr1 4234162 rs55680202 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.02;HRun=14;HaplotypeScore=7.57;MQ=46.57;MQ0=0;OQ=162.83;QD=3.54;SB=-20.39 GT:AD:DP:GL:GQ 0/1:36,9:39:-31.01,-11.45,-100.16:99 -chr1 4234461 rs2898791 C A 324.76 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=54.58;MQ0=0;OQ=1440.90;QD=17.57;SB=-669.70 GT:AD:DP:GL:GQ 0/1:33,49:78:-170.87,-23.50,-98.97:99 -chr1 4235747 rs1495243 G A 21.65 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=2;HaplotypeScore=0.87;MQ=59.34;MQ0=0;OQ=727.40;QD=20.78;SB=-304.24 GT:AD:DP:GL:GQ 0/1:14,21:34:-86.27,-10.24,-44.00:99 -chr1 4235753 rs903541 A G 320.84 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.74;MQ0=0;OQ=658.30;QD=17.79;SB=-304.49 GT:AD:DP:GL:GQ 0/1:15,22:36:-79.96,-10.84,-57.03:99 -chr1 4236215 rs2411739 T C 3.39 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=4;HaplotypeScore=1.73;MQ=54.14;MQ0=0;OQ=570.50;QD=9.84;SB=-308.25 GT:AD:DP:GL:GQ 0/1:27,31:50:-75.41,-15.07,-105.40:99 -chr1 4243198 rs6658727 T C 21.46 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=1.26;MQ=56.21;MQ0=0;OQ=1400.87;QD=30.45;SB=-402.32 GT:AD:DP:GL:GQ 1/1:0,46:43:-143.70,-12.96,-0.03:99 -chr1 4254604 rs1495248 G A 254.74 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=58.88;MQ0=0;OQ=575.96;QD=13.39;SB=-220.90 GT:AD:DP:GL:GQ 0/1:24,19:42:-73.53,-12.65,-79.75:99 -chr1 4255328 rs2130621 G A 47.37 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=4.28;MQ=59.31;MQ0=0;OQ=1064.10;QD=15.88;SB=-426.97 GT:AD:DP:GL:GQ 0/1:33,34:65:-129.28,-19.59,-111.47:99 -chr1 4255353 rs12123539 G C 316.52 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=60.00;MQ0=0;OQ=1198.39;QD=17.89;SB=-531.27 GT:AD:DP:GL:GQ 0/1:31,36:67:-143.33,-20.20,-136.21:99 -chr1 4255453 rs2029490 A G 353.66 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=59.70;MQ0=0;OQ=1028.79;QD=13.19;SB=-497.67 GT:AD:DP:GL:GQ 0/1:34,44:74:-128.48,-22.32,-128.69:99 -chr1 4256070 rs61769407 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.03;HRun=0;HaplotypeScore=33.48;MQ=52.67;MQ0=1;OQ=340.13;QD=5.08;SB=-156.75 GT:AD:DP:GL:GQ 0/1:47,18:58:-54.18,-16.88,-142.71:99 -chr1 4256256 rs12563155 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=93.47;MQ=55.97;MQ0=0;OQ=536.64;QD=7.56;SB=-213.44 GT:AD:DP:GL:GQ 0/1:49,22:63:-75.92,-18.98,-150.16:99 -chr1 4256294 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=8.05;MQ=57.07;MQ0=1;OQ=87.19;QD=1.23;SB=41.60 GT:AD:DP:GL:GQ 0/1:61,10:65:-31.59,-19.59,-196.34:99 -chr1 4256295 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=1;HaplotypeScore=7.58;MQ=57.07;MQ0=1;OQ=86.67;QD=1.22;SB=35.22 GT:AD:DP:GL:GQ 0/1:61,10:60:-30.03,-18.08,-181.58:99 -chr1 4256665 rs11487456 A C 56.20 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=2.90;MQ=57.92;MQ0=0;OQ=976.57;QD=11.10;SB=-464.71 GT:AD:DP:GL:GQ 0/1:50,38:85:-126.54,-25.60,-185.54:99 -chr1 4258667 rs10753377 G C 1.06 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=5;HaplotypeScore=1.15;MQ=59.53;MQ0=0;OQ=783.06;QD=15.98;SB=-363.09 GT:AD:DP:GL:GQ 0/1:26,23:47:-95.76,-14.17,-99.93:99 -chr1 4259991 rs592323 G T 282.55 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.52;MQ0=0;OQ=1759.13;QD=36.65;SB=-870.26 GT:AD:DP:GL:GQ 1/1:0,48:48:-179.51,-14.45,-0.01:99 -chr1 4261395 rs513096 G A 177.19 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.21;MQ=58.45;MQ0=0;OQ=707.77;QD=15.73;SB=-231.55 GT:AD:DP:GL:GQ 0/1:23,22:44:-87.33,-13.26,-70.99:99 -chr1 4262899 . A G 18.25 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=43.81;MQ=48.38;MQ0=0;QD=0.33;SB=-10.00 GT:AD:DP:GL:GQ 0/1:50,5:40:-17.15,-12.05,-140.45:51.02 -chr1 4262904 rs28675202 G A 73.10 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=14.98;MQ=50.70;MQ0=0;QD=1.43;SB=-10.00 GT:AD:DP:GL:GQ 0/1:40,11:45:-24.15,-13.55,-132.97:99 -chr1 4262909 . G A 79.12 SnpCluster AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=5.00;MQ=50.76;MQ0=0;QD=1.65;SB=-10.00 GT:AD:DP:GL:GQ 0/1:37,11:43:-24.15,-12.95,-125.43:99 -chr1 4262914 rs629808 G A 33.56 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=52.89;MQ=50.96;MQ0=0;QD=0.68;SB=-10.00 GT:AD:DP:GL:GQ 0/1:39,10:44:-19.89,-13.25,-132.97:66.40 -chr1 4262923 . C T 231.89 SnpCluster AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=36.64;MQ=51.44;MQ0=0;QD=5.27;SB=-10.00 GT:AD:DP:GL:GQ 0/1:30,14:37:-37.63,-11.16,-89.50:99 -chr1 4262924 rs3124336 G A 119.70 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=42.63;MQ=51.44;MQ0=0;QD=2.72;SB=-10.00 GT:AD:DP:GL:GQ 0/1:30,14:37:-26.40,-11.15,-102.56:99 -chr1 4262928 . C T 227.91 SnpCluster AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=40.91;MQ=51.65;MQ0=0;QD=5.06;SB=-10.00 GT:AD:DP:GL:GQ 0/1:31,14:38:-37.54,-11.47,-89.09:99 -chr1 4262934 . G A 212.81 SnpCluster AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=38.78;MQ=51.84;MQ0=0;QD=4.63;SB=-10.00 GT:AD:DP:GL:GQ 0/1:35,11:39:-36.31,-11.75,-102.65:99 -chr1 4262955 . C T 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=37;Dels=0.00;HRun=1;HaplotypeScore=10.30;MQ=55.28;MQ0=0;OQ=119.85;QD=3.24;SB=-10.00 GT:AD:DP:GL:GQ 0/1:30,7:34:-25.51,-10.24,-106.69:99 -chr1 4262965 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=36;Dels=0.00;HRun=0;HaplotypeScore=4.99;MQ=55.83;MQ0=0;OQ=58.64;QD=1.63;SB=-10.00 GT:AD:DP:GL:GQ 0/1:31,5:33:-19.09,-9.94,-116.28:91.47 -chr1 4263200 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=16.50;MQ=29.51;MQ0=20;OQ=97.44;QD=2.38;SB=-10.00 GT:AD:DP:GL:GQ 0/1:35,5:14:-17.24,-4.22,-36.40:99 -chr1 4263205 rs12035244 T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=20.28;MQ=30.89;MQ0=18;OQ=95.43;QD=2.27;SB=-10.00 GT:AD:DP:GL:GQ 0/1:37,5:15:-17.34,-4.52,-40.16:99 -chr1 4263595 rs34429154 C A 184.54 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=59.01;MQ0=0;OQ=488.72;QD=10.40;SB=-267.26 GT:AD:DP:GL:GQ 0/1:29,18:46:-66.01,-13.86,-101.87:99 -chr1 4263832 rs584035 G A 216.29 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=59.61;MQ0=0;OQ=1091.44;QD=18.50;SB=-496.53 GT:AD:DP:GL:GQ 0/1:27,32:59:-130.21,-17.78,-86.40:99 -chr1 4263930 rs503536 G A 202.82 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=59.57;MQ0=0;OQ=661.52;QD=12.25;SB=-344.44 GT:AD:DP:GL:GQ 0/1:32,22:49:-84.20,-14.76,-96.54:99 -chr1 4264086 rs693734 C T 101.31 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=2.89;MQ=58.91;MQ0=0;OQ=1021.37;QD=17.02;SB=-501.11 GT:AD:DP:GL:GQ 0/1:29,31:59:-123.20,-17.78,-92.76:99 -chr1 4264332 rs1106307 A G 290.23 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=3.63;MQ=59.33;MQ0=0;OQ=913.45;QD=14.73;SB=-354.33 GT:AD:DP:GL:GQ 0/1:28,34:58:-112.10,-17.47,-104.59:99 -chr1 4264424 rs2132176 A G 368.22 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=613.38;QD=11.15;SB=-237.28 GT:AD:DP:GL:GQ 0/1:30,25:53:-80.60,-15.97,-111.46:99 -chr1 4264542 rs2132174 T A 221.74 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=52.27;MQ0=0;OQ=1008.56;QD=17.69;SB=-458.63 GT:AD:DP:GL:GQ 0/1:21,35:54:-122.63,-18.49,-81.00:99 -chr1 4264801 rs3007778 G C 66.30 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=1.47;MQ=58.11;MQ0=0;OQ=580.26;QD=12.35;SB=-271.29 GT:AD:DP:GL:GQ 0/1:28,19:44:-74.59,-13.28,-102.55:99 -chr1 4265009 rs3007777 C A 272.57 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.09;MQ0=0;OQ=812.00;QD=17.65;SB=-415.86 GT:AD:DP:GL:GQ 0/1:19,27:45:-98.04,-13.55,-64.20:99 -chr1 4265174 . G A 199.75 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.87;MQ0=0;OQ=560.44;QD=13.67;SB=-202.85 GT:AD:DP:GL:GQ 0/1:23,18:41:-71.68,-12.35,-78.36:99 -chr1 4265866 rs56198562 A G 125.40 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=2.61;MQ=59.78;MQ0=0;OQ=979.47;QD=11.66;SB=-298.20 GT:AD:DP:GL:GQ 0/1:43,41:82:-125.95,-24.72,-170.33:99 -chr1 4266398 rs1495240 C T 180.37 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=59.09;MQ0=0;OQ=962.96;QD=18.88;SB=-480.01 GT:AD:DP:GL:GQ 0/1:23,28:47:-113.74,-14.16,-62.01:99 -chr1 4266494 rs1845634 G A 227.70 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=1124.56;QD=17.85;SB=-553.73 GT:AD:DP:GL:GQ 0/1:30,33:63:-134.72,-18.98,-108.50:99 -chr1 4267183 rs1490413 G A 163.02 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=1.58;MQ=59.39;MQ0=0;OQ=1192.58;QD=17.54;SB=-578.10 GT:AD:DP:GL:GQ 0/1:31,37:66:-142.43,-19.88,-110.71:99 -chr1 4267249 rs16838591 G A 109.35 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.45;MQ0=0;OQ=560.73;QD=16.49;SB=-154.59 GT:AD:DP:GL:GQ 0/1:17,17:34:-69.60,-10.24,-59.00:99 -chr1 4267670 rs17448695 C T 256.61 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=2.17;MQ=59.11;MQ0=0;OQ=785.86;QD=16.72;SB=-406.95 GT:AD:DP:GL:GQ 0/1:22,24:45:-95.42,-13.55,-80.15:99 -chr1 4267782 rs1817914 T C 324.51 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=58.97;MQ0=0;OQ=827.52;QD=14.03;SB=-394.24 GT:AD:DP:GL:GQ 0/1:29,30:58:-103.51,-17.47,-117.96:99 -chr1 4267840 rs2934983 G A 322.55 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.36;MQ0=0;OQ=1060.38;QD=18.28;SB=-513.09 GT:AD:DP:GL:GQ 0/1:26,32:57:-126.49,-17.17,-95.38:99 -chr1 4267886 rs1817913 A G 440.55 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=738.48;QD=13.43;SB=-393.26 GT:AD:DP:GL:GQ 0/1:24,31:50:-92.21,-15.08,-81.77:99 -chr1 4268301 rs351622 A T 719.15 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.09;MQ0=0;OQ=1814.47;QD=35.58;SB=-930.73 GT:AD:DP:GL:GQ 1/1:0,51:49:-185.04,-14.76,-0.01:99 -chr1 4268579 rs351621 T C 72.96 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.35;MQ=59.25;MQ0=0;OQ=1364.91;QD=27.30;SB=-524.09 GT:AD:DP:GL:GQ 1/1:0,50:43:-140.11,-12.97,-0.04:99 -chr1 4268604 rs351620 C T 134.99 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.70;MQ=59.46;MQ0=0;OQ=1433.75;QD=33.34;SB=-736.64 GT:AD:DP:GL:GQ 1/1:0,43:39:-146.99,-11.76,-0.03:99 -chr1 4268679 rs351619 G A 84.28 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=1739.98;QD=37.83;SB=-519.64 GT:AD:DP:GL:GQ 1/1:0,46:44:-177.59,-13.26,-0.01:99 -chr1 4268802 rs351618 T C 98.42 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=60.00;MQ0=0;OQ=1092.21;QD=26.64;SB=-356.42 GT:AD:DP:GL:GQ 1/1:0,41:37:-112.85,-11.17,-0.05:99 -chr1 4268811 rs351617 C T 143.28 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=1491.48;QD=36.38;SB=-509.63 GT:AD:DP:GL:GQ 1/1:1,40:39:-152.75,-11.76,-0.02:99 -chr1 4268960 rs2087571 C T 152.24 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=53.63;MQ0=0;OQ=643.83;QD=17.40;SB=-299.23 GT:AD:DP:GL:GQ 0/1:15,22:34:-77.91,-10.25,-47.03:99 -chr1 4269767 rs351616 A G 168.33 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.39;MQ=58.87;MQ0=0;OQ=1214.77;QD=29.63;SB=-431.27 GT:AD:DP:GL:GQ 1/1:0,41:38:-125.09,-11.46,-0.03:99 -chr1 4270245 rs351615 G A 292.81 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.76;MQ=58.55;MQ0=0;OQ=1966.57;QD=35.76;SB=-975.01 GT:AD:DP:GL:GQ 1/1:0,54:52:-200.27,-15.67,-0.02:99 -chr1 4271723 rs351614 C T 601.68 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.33;MQ0=0;OQ=2473.56;QD=39.90;SB=-1111.03 GT:AD:DP:GL:GQ 1/1:0,62:62:-250.96,-18.68,-0.01:99 -chr1 4271809 rs12132314 C T 430.38 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.65;MQ0=0;OQ=1181.91;QD=18.18;SB=-613.64 GT:AD:DP:GL:GQ 0/1:30,35:65:-141.06,-19.59,-97.20:99 -chr1 4273032 rs171260 A C 300.19 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=1.30;MQ=60.00;MQ0=0;OQ=870.08;QD=12.08;SB=-225.83 GT:AD:DP:GL:GQ 0/1:41,31:71:-111.68,-21.38,-150.14:99 -chr1 4274131 rs351613 A C 265.29 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.14;MQ0=0;OQ=2299.32;QD=35.37;SB=-1119.04 GT:AD:DP:GL:GQ 1/1:0,65:65:-233.54,-19.58,-0.02:99 -chr1 4277771 rs351596 C T 568.91 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.07;MQ0=0;OQ=2579.09;QD=39.68;SB=-949.23 GT:AD:DP:GL:GQ 1/1:0,65:64:-261.51,-19.28,-0.02:99 -chr1 4279737 rs876273 C G 132.40 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=4.17;MQ=59.56;MQ0=0;OQ=768.76;QD=14.78;SB=-189.63 GT:AD:DP:GL:GQ 0/1:23,29:48:-94.65,-14.49,-97.38:99 -chr1 4279818 rs351598 A T 381.51 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=1.53;MQ=59.66;MQ0=0;OQ=991.33;QD=14.58;SB=-452.46 GT:AD:DP:GL:GQ 0/1:35,33:67:-122.60,-20.18,-130.61:99 -chr1 4280055 rs1874269 C T 619.47 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.78;MQ0=0;OQ=2766.74;QD=39.52;SB=-1179.55 GT:AD:DP:GL:GQ 1/1:0,70:69:-280.28,-20.79,-0.02:99 -chr1 4280204 rs2411741 C A 180.72 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=2;HaplotypeScore=1.15;MQ=60.13;MQ0=0;OQ=1218.75;QD=14.51;SB=-564.82 GT:AD:DP:GL:GQ 0/1:42,42:82:-149.85,-24.70,-149.73:99 -chr1 4280489 rs351599 C T 413.51 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=59.72;MQ0=0;OQ=1071.03;QD=16.23;SB=-457.49 GT:AD:DP:GL:GQ 0/1:33,33:66:-130.29,-19.90,-102.77:99 -chr1 4285644 . A G 0.07 PASS AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=4;HaplotypeScore=2.54;MQ=57.79;MQ0=0;OQ=595.83;QD=12.16;SB=-120.71 GT:AD:DP:GL:GQ 0/1:26,23:47:-77.03,-14.16,-95.21:99 -chr1 4288221 . G A 0.84 PASS AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=1;HaplotypeScore=8.13;MQ=58.71;MQ0=0;OQ=1360.73;QD=16.39;SB=-394.38 GT:AD:DP:GL:GQ 0/1:43,40:81:-163.76,-24.40,-149.01:99 -chr1 4289709 . T G 46.86 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=1;HaplotypeScore=16.54;MQ=56.55;MQ0=0;QD=0.98;SB=53.18 GT:AD:DP:GL:GQ 0/1:27,21:32:-17.62,-9.65,-87.21:79.70 -chr1 4292594 rs34245285 G C 0.05 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=3.96;MQ=50.65;MQ0=4;OQ=195.36;QD=3.15;SB=-102.43 GT:AD:DP:GL:GQ 0/1:47,15:34:-33.09,-10.27,-97.74:99 -chr1 4293081 rs34762254 C G 17.74 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=35.42;MQ0=7;QD=0.43;SB=11.07 GT:AD:DP:GL:GQ 0/1:35,5:26:-12.90,-7.85,-90.70:50.51 -chr1 4293374 . G A 3.97 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=44.45;MQ0=2;OQ=329.37;QD=6.59;SB=0.51 GT:AD:DP:GL:GQ 0/1:31,19:40:-48.28,-12.06,-89.72:99 -chr1 4296431 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=120;Dels=0.01;HRun=0;HaplotypeScore=166.11;MQ=33.71;MQ0=1;OQ=76.77;QD=0.64;SB=116.41 GT:AD:DP:GL:GQ 0/1:95,22:100:-40.80,-29.83,-343.52:99 -chr1 4296441 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=126;Dels=0.07;HRun=0;HaplotypeScore=204.38;MQ=34.16;MQ0=1;OQ=63.06;QD=0.50;SB=111.78 GT:AD:DP:GL:GQ 0/1:104,10:96:-43.83,-34.24,-290.54:95.89 -chr1 4296449 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=0;HaplotypeScore=184.01;MQ=35.76;MQ0=1;OQ=76.57;QD=0.81;SB=108.85 GT:AD:DP:GL:GQ 0/1:78,6:65:-53.79,-42.85,-256.56:99 -chr1 4296459 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=87;Dels=0.00;HRun=1;HaplotypeScore=225.82;MQ=37.43;MQ0=0;OQ=345.89;QD=3.98;SB=26.09 GT:AD:DP:GL:GQ 0/1:63,24:68:-58.36,-20.48,-198.46:99 -chr1 4296469 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=95;Dels=0.00;HRun=1;HaplotypeScore=189.98;MQ=37.41;MQ0=0;OQ=75.74;QD=0.80;SB=12.63 GT:AD:DP:GL:GQ 0/1:84,11:69:-31.64,-20.79,-221.92:99 -chr1 4296493 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=102;Dels=0.00;HRun=0;HaplotypeScore=88.30;MQ=41.30;MQ0=0;OQ=474.04;QD=4.65;SB=-167.48 GT:AD:DP:GL:GQ 0/1:59,36:81:-93.85,-43.16,-272.31:99 -chr1 4296506 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=103;Dels=0.03;HRun=1;HaplotypeScore=78.61;MQ=43.01;MQ0=0;OQ=51.88;QD=0.50;SB=101.36 GT:AD:DP:GL:GQ 0/1:87,13:87:-34.09,-25.62,-299.11:84.72 -chr1 4296513 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=100;Dels=0.02;HRun=0;HaplotypeScore=60.45;MQ=43.56;MQ0=0;OQ=185.47;QD=1.85;SB=-3.86 GT:AD:DP:GL:GQ 0/1:80,18:74:-44.13,-22.29,-236.48:99 -chr1 4296520 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=111;Dels=0.00;HRun=1;HaplotypeScore=86.57;MQ=43.66;MQ0=0;OQ=90.49;QD=0.82;SB=69.81 GT:AD:DP:GL:GQ 0/1:99,12:95:-40.96,-28.62,-301.41:99 -chr1 4296571 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=100;Dels=0.02;HRun=0;HaplotypeScore=148.81;MQ=42.35;MQ0=0;OQ=149.13;QD=1.49;SB=56.28 GT:AD:DP:GL:GQ 0/1:64,20:79:-66.77,-48.58,-247.91:99 -chr1 4296587 . G A 55.07 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=113;Dels=0.02;HRun=0;HaplotypeScore=138.42;MQ=36.11;MQ0=2;QD=0.49;SB=3.46 GT:AD:DP:GL:GQ 0/1:83,28:77:-31.99,-23.20,-236.17:87.91 -chr1 4296590 . A G 63.20 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=113;Dels=0.01;HRun=1;HaplotypeScore=134.39;MQ=36.11;MQ0=2;QD=0.56;SB=44.15 GT:AD:DP:GL:GQ 0/1:101,11:84:-34.62,-25.01,-283.57:96.04 -chr1 4296596 . G A 133.96 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=123;Dels=0.00;HRun=0;HaplotypeScore=190.44;MQ=35.58;MQ0=2;QD=1.09;SB=41.12 GT:AD:DP:GL:GQ 0/1:107,16:99:-46.51,-29.83,-296.83:99 -chr1 4296607 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=125;Dels=0.00;HRun=1;HaplotypeScore=185.73;MQ=34.74;MQ0=2;OQ=309.12;QD=2.47;SB=41.15 GT:AD:DP:GL:GQ 0/1:106,19:100:-64.31,-30.12,-298.02:99 -chr1 4296636 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=128;Dels=0.00;HRun=0;HaplotypeScore=188.32;MQ=35.30;MQ0=3;OQ=116.48;QD=0.91;SB=56.18 GT:AD:DP:GL:GQ 0/1:110,17:102:-45.68,-30.75,-346.20:99 -chr1 4296642 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=130;Dels=0.00;HRun=1;HaplotypeScore=236.73;MQ=34.36;MQ0=5;OQ=253.36;QD=1.95;SB=47.15 GT:AD:DP:GL:GQ 0/1:113,17:102:-59.34,-30.72,-306.11:99 -chr1 4296665 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=117;Dels=0.00;HRun=0;HaplotypeScore=107.40;MQ=33.96;MQ0=6;OQ=319.22;QD=2.73;SB=50.15 GT:AD:DP:GL:GQ 0/1:91,24:96:-64.13,-28.92,-272.83:99 -chr1 4296668 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=119;Dels=0.01;HRun=0;HaplotypeScore=114.24;MQ=34.12;MQ0=7;OQ=295.42;QD=2.48;SB=-19.17 GT:AD:DP:GL:GQ 0/1:99,19:98:-62.05,-29.23,-276.38:99 -chr1 4296677 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=110;Dels=0.03;HRun=0;HaplotypeScore=117.38;MQ=34.73;MQ0=5;OQ=320.24;QD=2.91;SB=47.14 GT:AD:DP:GL:GQ 0/1:86,21:91:-62.13,-26.82,-250.93:99 -chr1 4296686 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=88;Dels=0.00;HRun=0;HaplotypeScore=54.93;MQ=36.96;MQ0=5;OQ=147.08;QD=1.67;SB=50.15 GT:AD:DP:GL:GQ 0/1:78,10:74:-40.29,-22.30,-219.44:99 -chr1 4308180 . C T 161.22 PASS AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.53;MQ0=0;OQ=1282.15;QD=17.56;SB=-488.11 GT:AD:DP:GL:GQ 0/1:35,38:73:-153.50,-22.00,-116.62:99 -chr1 4309112 . A C 86.02 PASS AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=1;HaplotypeScore=1.15;MQ=59.03;MQ0=0;OQ=562.66;QD=13.09;SB=-287.67 GT:AD:DP:GL:GQ 0/1:22,20:43:-74.67,-15.12,-82.44:99 -chr1 4310347 . C T 101.72 PASS AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=59.41;MQ0=0;OQ=1172.68;QD=16.52;SB=-579.36 GT:AD:DP:GL:GQ 0/1:36,35:70:-141.64,-21.08,-130.80:99 -chr1 4314528 . T C 249.50 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1047.71;QD=18.38;SB=-476.64 GT:AD:DP:GL:GQ 0/1:22,35:57:-125.23,-17.17,-90.17:99 -chr1 4316332 . T G 43.87 PASS AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.09;MQ=59.28;MQ0=0;OQ=471.43;QD=14.73;SB=-242.41 GT:AD:DP:GL:GQ 0/1:14,18:31:-59.77,-9.34,-47.32:99 -chr1 4316334 . C G 15.52 PASS AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=59.32;MQ0=0;OQ=676.22;QD=19.89;SB=-323.04 GT:AD:DP:GL:GQ 0/1:15,19:34:-81.16,-10.25,-60.88:99 -chr1 4318103 rs349395 A G 659.54 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.24;MQ0=0;OQ=1716.14;QD=31.20;SB=-834.63 GT:AD:DP:GL:GQ 1/1:0,55:54:-175.24,-16.28,-0.05:99 -chr1 4319680 rs349393 A C 563.28 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.81;MQ0=0;OQ=813.26;QD=15.95;SB=-376.77 GT:AD:DP:GL:GQ 0/1:23,28:51:-99.97,-15.36,-86.41:99 -chr1 4319765 rs102083 A T 361.40 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=55.80;MQ0=0;OQ=747.97;QD=14.96;SB=-385.65 GT:AD:DP:GL:GQ 0/1:24,26:48:-92.54,-14.46,-85.84:99 -chr1 4319782 rs28431405 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=20;HaplotypeScore=17.05;MQ=53.28;MQ0=0;OQ=875.22;QD=14.59;SB=-406.12 GT:AD:DP:GL:GQ 0/1:25,35:49:-105.57,-14.76,-69.63:99 -chr1 4319814 rs102085 G A 15.88 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=5.54;MQ=52.08;MQ0=0;OQ=929.67;QD=17.22;SB=-462.49 GT:AD:DP:GL:GQ 0/1:25,29:49:-111.01,-14.76,-74.46:99 -chr1 4319857 rs17410050 C T 91.63 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=57.83;MQ0=0;OQ=1009.89;QD=18.36;SB=-347.35 GT:AD:DP:GL:GQ 0/1:26,29:55:-120.84,-16.57,-94.75:99 -chr1 4320268 rs349392 G T 359.85 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.27;MQ=58.71;MQ0=0;OQ=818.84;QD=15.16;SB=-433.16 GT:AD:DP:GL:GQ 0/1:23,30:49:-99.94,-14.77,-68.96:99 -chr1 4320352 rs101287 A C 9.82 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=3;HaplotypeScore=2.94;MQ=58.91;MQ0=0;OQ=686.61;QD=10.73;SB=-323.81 GT:AD:DP:GL:GQ 0/1:36,28:61:-90.33,-18.38,-119.68:99 -chr1 4321671 rs56216403 A T 13.76 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=7.66;MQ=57.98;MQ0=0;OQ=569.50;QD=12.94;SB=-290.67 GT:AD:DP:GL:GQ 0/1:24,20:41:-72.59,-12.36,-76.85:99 -chr1 4321865 rs349391 T C 61.74 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=58.51;MQ0=0;OQ=775.30;QD=16.50;SB=-140.34 GT:AD:DP:GL:GQ 0/1:20,26:42:-93.47,-12.66,-62.46:99 -chr1 4321866 rs56376431 G A 8.49 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.58;MQ=58.51;MQ0=0;OQ=873.71;QD=18.59;SB=-178.26 GT:AD:DP:GL:GQ 0/1:21,26:42:-103.31,-12.65,-56.39:99 -chr1 4322006 rs56162804 C T 116.80 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.53;MQ0=0;OQ=1021.04;QD=20.84;SB=-534.77 GT:AD:DP:GL:GQ 0/1:19,30:49:-120.16,-14.77,-59.62:99 -chr1 4322030 rs55838104 C T 52.16 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=1.96;MQ=60.00;MQ0=0;OQ=1120.64;QD=21.14;SB=-534.76 GT:AD:DP:GL:GQ 0/1:20,33:52:-131.01,-15.67,-66.54:99 -chr1 4322090 rs16838800 A G 416.20 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=910.62;QD=19.80;SB=-423.34 GT:AD:DP:GL:GQ 0/1:16,30:46:-108.20,-13.86,-64.49:99 -chr1 4322538 rs12403556 C G 69.76 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.92;MQ=60.00;MQ0=0;OQ=1513.57;QD=24.81;SB=-525.74 GT:AD:DP:GL:GQ 0/1:20,41:61:-173.03,-18.39,-83.32:99 -chr1 4322543 rs12404034 A G 25.15 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=3.64;MQ=60.00;MQ0=0;OQ=1221.46;QD=20.02;SB=-417.22 GT:AD:DP:GL:GQ 0/1:20,41:60:-143.50,-18.07,-80.25:99 -chr1 4322609 rs12404038 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=5;HaplotypeScore=9.16;MQ=59.56;MQ0=0;OQ=664.61;QD=12.54;SB=-143.41 GT:AD:DP:GL:GQ 0/1:24,29:49:-84.51,-14.77,-94.35:99 -chr1 4322739 rs12404366 T C 226.21 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=432.95;QD=9.41;SB=-158.54 GT:AD:DP:GL:GQ 0/1:29,17:46:-60.44,-13.86,-115.98:99 -chr1 4322916 rs12402553 G A 357.39 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=59.62;MQ0=0;OQ=842.62;QD=13.81;SB=-393.36 GT:AD:DP:GL:GQ 0/1:35,26:59:-105.32,-17.77,-117.60:99 -chr1 4323438 rs16838810 A G 123.66 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=3;HaplotypeScore=0.32;MQ=59.40;MQ0=0;OQ=808.90;QD=13.05;SB=-366.96 GT:AD:DP:GL:GQ 0/1:30,32:61:-102.56,-18.39,-119.19:99 -chr1 4323490 rs55944275 G A 62.78 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.36;MQ0=0;OQ=1153.53;QD=19.89;SB=-343.36 GT:AD:DP:GL:GQ 0/1:24,34:57:-135.81,-17.17,-85.54:99 -chr1 4323756 rs349390 T C 313.61 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.62;MQ0=0;OQ=671.97;QD=11.20;SB=-140.85 GT:AD:DP:GL:GQ 0/1:34,26:58:-87.95,-17.47,-136.36:99 -chr1 4323757 rs58351078 G A 132.53 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=59.61;MQ0=0;OQ=802.14;QD=13.60;SB=-181.76 GT:AD:DP:GL:GQ 0/1:34,25:59:-101.27,-17.77,-124.39:99 -chr1 4323928 rs61676533 C T 374.12 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.48;MQ0=0;OQ=1036.80;QD=14.40;SB=-477.00 GT:AD:DP:GL:GQ 0/1:40,32:72:-128.65,-21.69,-142.77:99 -chr1 4323975 rs16838812 A G 340.79 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.98;MQ=59.17;MQ0=0;OQ=822.30;QD=12.09;SB=-364.22 GT:AD:DP:GL:GQ 0/1:38,30:68:-106.00,-20.49,-150.74:99 -chr1 4324005 rs16838813 G A 586.02 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.08;MQ0=0;OQ=833.74;QD=14.13;SB=-356.82 GT:AD:DP:GL:GQ 0/1:33,26:58:-104.14,-17.48,-106.56:99 -chr1 4324062 rs56775247 A G 352.77 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.86;MQ0=0;OQ=755.78;QD=11.81;SB=-150.88 GT:AD:DP:GL:GQ 0/1:37,27:64:-98.14,-19.28,-148.79:99 -chr1 4324102 rs57599092 A T 199.13 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=1.94;MQ=53.27;MQ0=0;OQ=1008.31;QD=14.83;SB=-333.61 GT:AD:DP:GL:GQ 0/1:34,34:66:-123.99,-19.88,-127.49:99 -chr1 4324399 rs11804096 T C 269.49 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=45.70;MQ0=1;OQ=598.48;QD=11.29;SB=-306.38 GT:AD:DP:GL:GQ 0/1:28,25:48:-77.59,-14.46,-100.69:99 -chr1 4324626 rs11803736 A G 203.50 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=51.26;MQ0=1;OQ=569.48;QD=10.55;SB=-273.41 GT:AD:DP:GL:GQ 0/1:32,22:52:-75.89,-15.66,-126.39:99 -chr1 4324693 rs11801800 G A 371.17 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=50.70;MQ0=1;OQ=920.80;QD=14.85;SB=-460.99 GT:AD:DP:GL:GQ 0/1:32,30:59:-113.14,-17.77,-113.29:99 -chr1 4324939 rs12729994 C A 219.08 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=56.71;MQ0=0;OQ=746.98;QD=16.98;SB=-320.72 GT:AD:DP:GL:GQ 0/1:18,26:42:-90.63,-12.65,-55.46:99 -chr1 4325115 rs12742617 T G 433.06 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=59.56;MQ0=0;OQ=1013.88;QD=12.07;SB=-397.13 GT:AD:DP:GL:GQ 0/1:47,37:83:-129.67,-25.00,-173.24:99 -chr1 4325508 rs34012704 A G 166.42 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.90;MQ=59.63;MQ0=0;OQ=986.31;QD=19.34;SB=-504.18 GT:AD:DP:GL:GQ 0/1:17,34:49:-116.68,-14.77,-62.75:99 -chr1 4325583 . G A 54.73 PASS AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=60.00;MQ0=0;OQ=709.46;QD=16.50;SB=-303.82 GT:AD:DP:GL:GQ 0/1:18,25:41:-86.59,-12.36,-64.70:99 -chr1 4325707 rs12405082 A G 0.52 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=3;HaplotypeScore=6.04;MQ=58.57;MQ0=0;OQ=521.78;QD=8.42;SB=-177.38 GT:AD:DP:GL:GQ 0/1:38,24:56:-72.34,-16.88,-134.28:99 -chr1 4325759 . C T 1.66 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=2;HaplotypeScore=2.89;MQ=58.50;MQ0=0;OQ=768.28;QD=12.39;SB=-160.15 GT:AD:DP:GL:GQ 0/1:32,29:57:-97.29,-17.18,-106.60:99 -chr1 4325887 rs12403671 G C 245.59 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=59.67;MQ0=0;OQ=1119.45;QD=19.64;SB=-552.71 GT:AD:DP:GL:GQ 0/1:24,33:54:-131.50,-16.27,-104.02:99 -chr1 4325945 rs12404619 C T 347.85 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.65;MQ0=0;OQ=874.85;QD=15.91;SB=-387.13 GT:AD:DP:GL:GQ 0/1:26,29:53:-106.74,-15.97,-91.70:99 -chr1 4326338 rs16838819 A C 229.78 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=4.02;MQ=58.63;MQ0=0;OQ=550.44;QD=10.79;SB=-296.79 GT:AD:DP:GL:GQ 0/1:29,22:49:-73.09,-14.76,-103.75:99 -chr1 4327728 rs34472761 G C 257.96 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=59.05;MQ0=0;OQ=1072.08;QD=16.75;SB=-550.71 GT:AD:DP:GL:GQ 0/1:32,32:62:-129.19,-18.70,-130.17:99 -chr1 4328031 rs56108323 G A 198.39 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=60.00;MQ0=0;OQ=626.21;QD=12.28;SB=-249.12 GT:AD:DP:GL:GQ 0/1:27,24:48:-80.37,-14.46,-97.54:99 -chr1 4329322 rs483344 A G 283.35 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=59.34;MQ0=0;OQ=672.82;QD=9.61;SB=-273.11 GT:AD:DP:GL:GQ 0/1:41,29:68:-91.06,-20.50,-159.89:99 -chr1 4331124 rs572439 A C 450.24 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.73;MQ0=0;OQ=1069.67;QD=15.73;SB=-417.82 GT:AD:DP:GL:GQ 0/1:30,38:67:-130.43,-20.18,-110.75:99 -chr1 4331158 rs572343 G A 289.61 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.72;MQ0=0;OQ=1247.65;QD=18.62;SB=-597.10 GT:AD:DP:GL:GQ 0/1:31,36:64:-147.32,-19.27,-103.83:99 -chr1 4331483 rs12750862 T C 292.32 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=59.55;MQ0=0;OQ=752.94;QD=14.76;SB=-378.63 GT:AD:DP:GL:GQ 0/1:24,27:49:-93.35,-14.77,-86.37:99 -chr1 4331508 . C T 49.49 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=60.00;MQ0=0;OQ=892.12;QD=17.84;SB=-369.91 GT:AD:DP:GL:GQ 0/1:18,31:43:-105.46,-12.97,-47.94:99 -chr1 4333712 rs2926485 T C 268.41 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=2.56;MQ=59.83;MQ0=0;OQ=1004.92;QD=15.70;SB=-484.15 GT:AD:DP:GL:GQ 0/1:28,35:61:-122.15,-18.38,-108.51:99 -chr1 4334184 rs57575485 C T 360.52 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=59.70;MQ0=0;OQ=1292.51;QD=16.79;SB=-566.07 GT:AD:DP:GL:GQ 0/1:37,40:76:-155.43,-22.90,-133.07:99 -chr1 4334834 rs661536 A G 714.01 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1993.62;QD=34.98;SB=-900.02 GT:AD:DP:GL:GQ 1/1:0,57:57:-202.97,-17.17,-0.02:99 -chr1 4339520 rs902403 T C 449.51 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=846.06;QD=12.44;SB=-357.94 GT:AD:DP:GL:GQ 0/1:35,33:68:-108.38,-20.49,-140.89:99 -chr1 4339677 rs2926482 C G 218.76 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2219.96;QD=42.69;SB=-974.35 GT:AD:DP:GL:GQ 1/1:0,52:52:-225.60,-15.67,-0.01:99 -chr1 4340373 rs590798 A C 514.93 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.45;MQ0=0;OQ=2632.91;QD=34.64;SB=-1142.61 GT:AD:DP:GL:GQ 1/1:0,76:76:-266.90,-22.89,-0.03:99 -chr1 4344158 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=3;HaplotypeScore=3.49;MQ=60.00;MQ0=0;OQ=63.29;QD=1.07;SB=56.21 GT:AD:DP:GL:GQ 0/1:42,17:47:-23.79,-14.18,-151.98:96.13 -chr1 4344566 rs349413 C A 606.43 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1116.07;QD=14.69;SB=-454.53 GT:AD:DP:GL:GQ 0/1:39,37:76:-137.78,-22.89,-141.17:99 -chr1 4345038 rs164598 G A 482.03 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.02;MQ0=0;OQ=1164.61;QD=17.38;SB=-524.70 GT:AD:DP:GL:GQ 0/1:32,35:67:-139.93,-20.18,-113.85:99 -chr1 4347591 rs4654526 C T 500.86 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1310.21;QD=20.16;SB=-660.78 GT:AD:DP:GL:GQ 0/1:25,40:61:-152.69,-18.39,-71.94:99 -chr1 4351708 rs11585123 G T 52.90 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=3;HaplotypeScore=1.96;MQ=59.43;MQ0=0;OQ=956.92;QD=13.11;SB=-391.99 GT:AD:DP:GL:GQ 0/1:39,34:73:-120.97,-21.99,-133.39:99 -chr1 4352257 rs627555 G A 556.89 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.08;MQ0=0;OQ=1274.67;QD=14.01;SB=-577.49 GT:AD:DP:GL:GQ 0/1:53,38:91:-158.16,-27.41,-187.48:99 -chr1 4352698 . A C 145.09 PASS AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=60.00;MQ0=0;OQ=1251.00;QD=14.55;SB=-612.69 GT:AD:DP:GL:GQ 0/1:43,43:84:-153.68,-25.30,-154.64:99 -chr1 4353326 rs7523383 C T 223.33 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=60.00;MQ0=0;OQ=1125.20;QD=18.75;SB=-322.36 GT:AD:DP:GL:GQ 0/1:24,35:55:-132.39,-16.58,-65.47:99 -chr1 4354986 rs55703746 G T 228.36 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=60.00;MQ0=0;OQ=1494.65;QD=18.68;SB=-625.43 GT:AD:DP:GL:GQ 0/1:32,48:80:-176.84,-24.10,-112.47:99 -chr1 4358435 . C T 24.59 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=1;HaplotypeScore=3.25;MQ=55.69;MQ0=0;QD=0.61;SB=41.14 GT:AD:DP:GL:GQ 0/1:35,4:36:-16.60,-10.86,-102.91:57.41 -chr1 4358482 . C G 35.61 LowQual AC=1;AF=0.50;AN=2;DP=34;Dels=0.00;HRun=0;HaplotypeScore=3.12;MQ=54.32;MQ0=0;QD=1.05;SB=-23.70 GT:AD:DP:GL:GQ 0/1:30,4:32:-16.49,-9.64,-124.37:68.45 -chr1 4359549 rs6679220 T C 288.35 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=543.81;QD=10.66;SB=-272.37 GT:AD:DP:GL:GQ 0/1:30,21:50:-72.72,-15.06,-124.68:99 -chr1 4360825 rs56081339 G A 327.33 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=59.43;MQ0=0;OQ=993.85;QD=13.61;SB=-456.06 GT:AD:DP:GL:GQ 0/1:40,33:70:-123.78,-21.11,-120.70:99 -chr1 4363525 rs349402 G A 561.81 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.26;MQ0=0;OQ=1290.95;QD=16.99;SB=-425.80 GT:AD:DP:GL:GQ 0/1:36,40:74:-154.68,-22.30,-119.31:99 -chr1 4367389 rs4654429 G A 56.05 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=5.58;MQ=57.65;MQ0=0;OQ=1142.68;QD=16.80;SB=-522.78 GT:AD:DP:GL:GQ 0/1:32,36:64:-136.84,-19.29,-93.56:99 -chr1 4367566 rs4654430 T C 472.63 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.33;MQ0=0;OQ=611.79;QD=10.92;SB=-199.58 GT:AD:DP:GL:GQ 0/1:34,22:55:-81.03,-16.57,-131.86:99 -chr1 4368744 rs547923 C A 335.14 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=58.91;MQ0=0;OQ=794.59;QD=12.42;SB=-343.21 GT:AD:DP:GL:GQ 0/1:34,30:61:-101.12,-18.38,-116.77:99 -chr1 4369295 rs6687224 C G 567.99 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.69;MQ0=0;OQ=1064.80;QD=17.75;SB=-495.28 GT:AD:DP:GL:GQ 0/1:29,31:59:-127.55,-17.78,-120.89:99 -chr1 4369728 rs733308 T G 295.33 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=1.39;MQ=59.19;MQ0=1;OQ=894.22;QD=10.65;SB=-355.63 GT:AD:DP:GL:GQ 0/1:48,36:83:-117.71,-25.00,-176.40:99 -chr1 4370735 rs2926477 A G 468.63 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=995.20;QD=15.31;SB=-357.26 GT:AD:DP:GL:GQ 0/1:29,36:64:-122.09,-19.28,-116.14:99 -chr1 4371593 rs505933 A G 376.41 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=58.99;MQ0=0;OQ=894.44;QD=10.78;SB=-423.73 GT:AD:DP:GL:GQ 0/1:45,38:82:-117.44,-24.72,-179.72:99 -chr1 4371867 rs693045 T C 492.95 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.26;MQ0=0;OQ=669.20;QD=9.99;SB=-303.21 GT:AD:DP:GL:GQ 0/1:37,30:64:-89.50,-19.29,-143.01:99 -chr1 4371873 rs10915529 G C 482.75 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.33;MQ0=0;OQ=903.58;QD=12.91;SB=-393.25 GT:AD:DP:GL:GQ 0/1:40,30:69:-114.44,-20.80,-177.40:99 -chr1 4371886 rs659514 T C 97.64 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=1.39;MQ=58.28;MQ0=0;OQ=683.73;QD=10.05;SB=-268.51 GT:AD:DP:GL:GQ 0/1:42,26:67:-91.84,-20.18,-171.36:99 -chr1 4372308 rs4654533 C G 209.19 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.20;MQ0=0;OQ=1490.53;QD=19.61;SB=-620.61 GT:AD:DP:GL:GQ 0/1:35,41:72:-174.05,-21.72,-126.16:99 -chr1 4375044 rs349405 A C 311.25 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=541.86;QD=10.62;SB=-270.89 GT:AD:DP:GL:GQ 0/1:31,20:51:-72.83,-15.36,-116.45:99 -chr1 4375626 rs349406 T C 212.51 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=2.99;MQ=59.38;MQ0=0;OQ=1112.63;QD=14.84;SB=-554.63 GT:AD:DP:GL:GQ 0/1:36,39:72:-136.23,-21.69,-140.85:99 -chr1 4375771 rs12562242 G T 432.17 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=59.23;MQ0=0;OQ=915.50;QD=12.54;SB=-381.76 GT:AD:DP:GL:GQ 0/1:39,34:71:-116.22,-21.39,-137.78:99 -chr1 4376133 rs349407 G A 305.49 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=60.03;MQ0=1;OQ=1382.00;QD=18.43;SB=-530.55 GT:AD:DP:GL:GQ 0/1:31,44:71:-162.87,-21.39,-107.28:99 -chr1 4376945 rs10915530 C T 589.94 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.67;MQ0=0;OQ=1129.31;QD=16.13;SB=-586.64 GT:AD:DP:GL:GQ 0/1:35,35:68:-136.71,-20.50,-105.26:99 -chr1 4377252 rs1490416 T A 34.72 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.01;HRun=1;HaplotypeScore=4.80;MQ=59.18;MQ0=0;OQ=1402.77;QD=16.50;SB=-436.53 GT:AD:DP:GL:GQ 0/1:39,45:80:-167.66,-24.10,-131.13:99 -chr1 4377771 rs349409 C T 337.62 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=2.02;MQ=59.15;MQ0=0;OQ=1097.95;QD=15.46;SB=-477.48 GT:AD:DP:GL:GQ 0/1:37,34:69:-133.86,-20.78,-131.05:99 -chr1 4377899 rs349410 C A 42.06 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=4.55;MQ=59.19;MQ0=0;OQ=1054.50;QD=18.50;SB=-399.14 GT:AD:DP:GL:GQ 0/1:22,35:56:-125.60,-16.87,-75.99:99 -chr1 4377949 rs349411 C T 2.69 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=11.72;MQ=58.87;MQ0=0;OQ=1481.01;QD=18.06;SB=-689.93 GT:AD:DP:GL:GQ 0/1:37,45:80:-175.49,-24.10,-130.86:99 -chr1 4377999 rs10915531 A G 391.37 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=59.24;MQ0=0;OQ=1298.04;QD=16.23;SB=-576.28 GT:AD:DP:GL:GQ 0/1:36,44:80:-157.19,-24.10,-146.95:99 -chr1 4380137 rs493178 G C 0.36 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=2.09;MQ=57.06;MQ0=0;OQ=874.81;QD=23.64;SB=-165.59 GT:AD:DP:GL:GQ 0/1:11,26:34:-101.01,-10.25,-40.96:99 -chr1 4380197 . G A 21.03 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=23.38;MQ=29.95;MQ0=2;QD=0.68;SB=41.12 GT:AD:DP:GL:GQ 0/1:26,5:22:-12.01,-6.63,-63.36:53.84 -chr1 4380201 rs59237016 A T 117.83 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=21.39;MQ=30.09;MQ0=2;QD=4.36;SB=-11.73 GT:AD:DP:GL:GQ 0/1:19,6:13:-24.36,-9.29,-27.60:99 -chr1 4380203 . A G 41.11 LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=25;Dels=0.00;HRun=0;HaplotypeScore=24.37;MQ=28.28;MQ0=2;QD=1.64;SB=-10.00 GT:AD:DP:GL:GQ 0/1:17,7:10:-10.41,-3.01,-27.49:73.95 -chr1 4380215 . G A 523.36 SnpCluster AC=2;AF=1.00;AN=2;DP=19;Dels=0.05;HRun=0;HaplotypeScore=13.20;MQ=29.01;MQ0=2;QD=27.55;SB=-164.67 GT:AD:DP:GL:GQ 1/1:1,17:14:-55.92,-4.22,-0.00:42.14 -chr1 4380217 rs60888156 G A 452.59 SnpCluster AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.05;HRun=0;HaplotypeScore=13.68;MQ=29.01;MQ0=2;QD=23.82;SB=-163.66 GT:AD:DP:GL:GQ 1/1:4,14:14:-51.77,-4.22,-2.97:12.46 -chr1 4380219 . G A 274.46 SnpCluster AC=1;AF=0.50;AN=2;DP=17;Dels=0.06;HRun=0;HaplotypeScore=11.89;MQ=29.85;MQ0=1;QD=16.14;SB=-148.61 GT:AD:DP:GL:GQ 0/1:5,11:13:-34.65,-3.92,-13.88:99 -chr1 4380249 . G A 49.25 LowQual AC=2;AF=1.00;AN=2;DP=3;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=23.68;MQ0=1;QD=16.42;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,3:2:-8.33,-0.60,-0.00:6.02 -chr1 4380271 rs6697112 G A 9.28 PASS AC=2;AF=1.00;AN=2;DB;DP=5;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=37.32;MQ0=0;OQ=124.22;QD=24.84;SB=-44.55 GT:AD:DP:GL:GQ 1/1:1,4:4:-15.96,-1.21,-0.00:12.04 -chr1 4380311 rs1309838 C A 157.04 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=54.85;MQ0=0;OQ=623.10;QD=14.84;SB=-208.87 GT:AD:DP:GL:GQ 0/1:19,23:41:-77.95,-12.35,-68.48:99 -chr1 4380330 rs1309839 C T 0.61 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=7.73;MQ=55.45;MQ0=0;OQ=843.65;QD=20.09;SB=-255.33 GT:AD:DP:GL:GQ 0/1:15,27:37:-98.80,-11.15,-35.58:99 -chr1 4380929 . T C 25.32 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=2;HaplotypeScore=5.44;MQ=59.32;MQ0=0;QD=0.37;SB=122.43 GT:AD:DP:GL:GQ 0/1:48,20:54:-22.08,-16.27,-188.06:58.14 -chr1 4380941 rs349386 C T 474.31 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.84;MQ0=0;OQ=1352.78;QD=17.80;SB=-554.75 GT:AD:DP:GL:GQ 0/1:36,40:74:-160.85,-22.29,-128.59:99 -chr1 4381075 rs4654432 C T 88.73 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=3;HaplotypeScore=1.63;MQ=60.32;MQ0=0;OQ=870.11;QD=12.80;SB=-258.77 GT:AD:DP:GL:GQ 0/1:40,28:66:-110.19,-19.90,-123.57:99 -chr1 4381353 rs35799150 A G 389.01 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.73;MQ0=0;OQ=820.10;QD=12.06;SB=-192.18 GT:AD:DP:GL:GQ 0/1:39,29:68:-105.78,-20.48,-159.19:99 -chr1 4381492 rs4654433 G A 604.36 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=1070.93;QD=15.98;SB=-493.09 GT:AD:DP:GL:GQ 0/1:35,32:67:-130.57,-20.19,-112.83:99 -chr1 4382470 rs737324 G C 535.52 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.88;MQ0=0;OQ=1310.24;QD=17.47;SB=-409.80 GT:AD:DP:GL:GQ 0/1:38,37:74:-156.61,-22.31,-151.67:99 -chr1 4382624 rs349385 A G 200.13 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=56.49;MQ0=0;OQ=1553.01;QD=28.76;SB=-619.97 GT:AD:DP:GL:GQ 1/1:0,53:51:-158.94,-15.39,-0.06:99 -chr1 4383263 rs41266223 T C 212.32 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=57.69;MQ0=0;OQ=666.08;QD=11.29;SB=-355.38 GT:AD:DP:GL:GQ 0/1:32,27:53:-85.86,-15.97,-114.12:99 -chr1 4385955 rs4654537 A G 109.83 PASS AC=1;AF=0.50;AN=2;DB;DP=23;Dels=0.00;HRun=0;HaplotypeScore=1.49;MQ=60.00;MQ0=0;OQ=187.72;QD=8.16;SB=-92.99 GT:AD:DP:GL:GQ 0/1:12,10:21:-28.39,-6.33,-46.97:99 -chr1 4386470 rs1762818 A G 620.72 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.36;MQ0=0;OQ=2262.65;QD=34.81;SB=-1121.77 GT:AD:DP:GL:GQ 1/1:0,65:63:-229.87,-18.98,-0.02:99 -chr1 4386565 rs2035009 T C 346.94 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=58.05;MQ0=0;OQ=655.98;QD=10.93;SB=-329.97 GT:AD:DP:GL:GQ 0/1:30,30:56:-85.78,-16.89,-109.09:99 -chr1 4386918 rs2035008 T A 56.82 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=1.25;MQ=55.07;MQ0=0;OQ=728.43;QD=12.14;SB=-228.91 GT:AD:DP:GL:GQ 0/1:33,27:58:-93.60,-17.47,-122.91:99 -chr1 4387800 . G A 279.77 PASS AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1023.92;QD=16.25;SB=-391.36 GT:AD:DP:GL:GQ 0/1:32,31:61:-124.06,-18.39,-99.73:99 -chr1 4388151 rs4654542 C T 244.41 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=2.62;MQ=60.00;MQ0=0;OQ=1264.25;QD=16.63;SB=-528.76 GT:AD:DP:GL:GQ 0/1:37,39:75:-152.31,-22.60,-121.60:99 -chr1 4388316 rs4654434 G A 492.22 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1047.13;QD=14.54;SB=-490.97 GT:AD:DP:GL:GQ 0/1:40,32:72:-129.68,-21.69,-147.17:99 -chr1 4388691 rs6667927 C T 322.46 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.79;MQ0=0;OQ=1604.10;QD=18.23;SB=-806.38 GT:AD:DP:GL:GQ 0/1:41,47:88:-190.20,-26.51,-149.18:99 -chr1 4388839 rs6658372 G A 449.72 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.10;MQ0=0;OQ=954.40;QD=14.24;SB=-360.06 GT:AD:DP:GL:GQ 0/1:36,31:66:-118.61,-19.88,-128.27:99 -chr1 4389258 rs6678792 T C 469.97 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.45;MQ0=0;OQ=1167.87;QD=15.37;SB=-534.97 GT:AD:DP:GL:GQ 0/1:37,39:76:-142.96,-22.89,-149.63:99 -chr1 4389389 rs10915533 G A 316.56 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=59.63;MQ0=0;OQ=829.91;QD=13.39;SB=-417.75 GT:AD:DP:GL:GQ 0/1:33,29:58:-103.75,-17.48,-109.80:99 -chr1 4389459 rs995749 T C 99.11 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=3.02;MQ=59.19;MQ0=0;OQ=673.64;QD=11.82;SB=-297.62 GT:AD:DP:GL:GQ 0/1:29,28:55:-87.23,-16.58,-114.38:99 -chr1 4390198 rs6676603 A T 439.97 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=59.38;MQ0=0;OQ=1300.48;QD=17.57;SB=-634.13 GT:AD:DP:GL:GQ 0/1:32,42:73:-155.32,-21.99,-116.56:99 -chr1 4390481 rs12128251 T C 259.49 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=57.96;MQ0=0;OQ=632.69;QD=11.94;SB=-295.21 GT:AD:DP:GL:GQ 0/1:28,25:50:-81.62,-15.07,-105.90:99 -chr1 4391861 rs2007533 T A 193.95 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=57.74;MQ0=0;OQ=586.86;QD=11.51;SB=-140.76 GT:AD:DP:GL:GQ 0/1:30,21:48:-76.43,-14.46,-99.70:99 -chr1 4391958 rs1809702 T C 301.51 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=60.00;MQ0=0;OQ=1033.40;QD=12.45;SB=-514.71 GT:AD:DP:GL:GQ 0/1:39,44:81:-131.04,-24.42,-155.02:99 -chr1 4392226 rs736265 G A 87.76 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=4.07;MQ=59.56;MQ0=0;OQ=793.67;QD=14.97;SB=-313.81 GT:AD:DP:GL:GQ 0/1:27,26:51:-98.01,-15.36,-98.57:99 -chr1 4393075 rs1556691 A G 599.93 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.74;MQ0=0;OQ=937.52;QD=14.88;SB=-473.07 GT:AD:DP:GL:GQ 0/1:29,34:61:-115.41,-18.38,-116.29:99 -chr1 4393225 rs4654435 T C 403.94 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=60.00;MQ0=0;OQ=690.21;QD=11.50;SB=-328.14 GT:AD:DP:GL:GQ 0/1:28,31:55:-88.89,-16.58,-104.73:99 -chr1 4394358 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=18;HaplotypeScore=18.20;MQ=57.05;MQ0=0;OQ=138.13;QD=2.76;SB=68.21 GT:AD:DP:GL:GQ 0/1:39,11:43:-30.06,-12.96,-119.55:99 -chr1 4394377 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=18;HaplotypeScore=17.15;MQ=55.75;MQ0=0;OQ=145.86;QD=2.75;SB=25.24 GT:AD:DP:GL:GQ 0/1:40,13:43:-30.82,-12.95,-126.23:99 -chr1 4394834 rs12072315 G A 483.58 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.65;MQ0=0;OQ=835.16;QD=15.47;SB=-392.90 GT:AD:DP:GL:GQ 0/1:29,25:53:-102.78,-15.98,-90.62:99 -chr1 4394951 rs7546444 A G 181.93 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.12;MQ0=0;OQ=846.04;QD=12.26;SB=-340.27 GT:AD:DP:GL:GQ 0/1:38,31:68:-108.38,-20.49,-147.54:99 -chr1 4395538 rs1591426 T C 726.29 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.57;MQ0=0;OQ=2474.70;QD=34.37;SB=-1102.69 GT:AD:DP:GL:GQ 1/1:0,72:71:-251.09,-21.39,-0.04:99 -chr1 4395562 rs1591425 A G 113.89 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.25;MQ0=0;OQ=1914.52;QD=29.01;SB=-807.30 GT:AD:DP:GL:GQ 1/1:0,66:62:-195.10,-18.70,-0.06:99 -chr1 4396040 rs10915536 C T 108.05 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.40;MQ0=0;OQ=3075.21;QD=39.94;SB=-1236.02 GT:AD:DP:GL:GQ 1/1:0,77:77:-311.12,-23.19,-0.02:99 -chr1 4396189 rs1762813 C T 709.23 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.85;MQ0=0;OQ=1988.33;QD=37.52;SB=-957.81 GT:AD:DP:GL:GQ 1/1:0,52:51:-202.43,-15.36,-0.01:99 -chr1 4396377 rs1674876 G A 690.55 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.24;MQ0=0;OQ=3414.62;QD=39.70;SB=-1526.04 GT:AD:DP:GL:GQ 1/1:0,86:85:-340.46,-25.61,-0.02:99 -chr1 4396770 rs1335365 G A 180.08 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.45;MQ0=0;OQ=3218.44;QD=38.31;SB=-1546.06 GT:AD:DP:GL:GQ 1/1:0,84:82:-325.46,-24.71,-0.03:99 -chr1 4396978 rs6660514 C T 529.47 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.05;MQ0=0;OQ=2569.74;QD=40.15;SB=-881.18 GT:AD:DP:GL:GQ 1/1:0,64:63:-260.57,-18.97,-0.01:99 -chr1 4396990 rs1335363 G A 705.95 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.11;MQ0=0;OQ=2655.20;QD=39.05;SB=-1068.35 GT:AD:DP:GL:GQ 1/1:0,68:67:-269.12,-20.18,-0.02:99 -chr1 4397408 rs35211041 C G 282.09 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=59.56;MQ0=0;OQ=845.74;QD=15.96;SB=-404.93 GT:AD:DP:GL:GQ 0/1:28,25:51:-103.22,-15.37,-116.49:99 -chr1 4397651 rs1234932 T C 32.13 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=2.62;MQ=59.08;MQ0=0;OQ=2038.22;QD=30.88;SB=-895.04 GT:AD:DP:GL:GQ 1/1:0,66:64:-207.46,-19.30,-0.06:99 -chr1 4399691 rs780572 T C 25.86 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=3.98;MQ=59.66;MQ0=0;OQ=2164.78;QD=32.31;SB=-610.95 GT:AD:DP:GL:GQ 1/1:0,67:65:-220.10,-19.59,-0.04:99 -chr1 4400105 rs12727067 C T 348.64 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.54;MQ0=0;OQ=3168.12;QD=39.11;SB=-1535.71 GT:AD:DP:GL:GQ 1/1:0,81:79:-320.41,-23.80,-0.02:99 -chr1 4400296 rs12731060 C T 672.05 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2631.07;QD=38.69;SB=-901.20 GT:AD:DP:GL:GQ 1/1:0,68:67:-266.72,-20.19,-0.02:99 -chr1 4401014 rs6674190 C T 89.86 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.77;MQ0=0;OQ=3223.06;QD=39.79;SB=-1621.16 GT:AD:DP:GL:GQ 1/1:0,81:80:-325.90,-24.10,-0.02:99 -chr1 4401844 rs780573 A G 655.69 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.72;MQ0=0;OQ=2538.38;QD=30.96;SB=-1020.34 GT:AD:DP:GL:GQ 1/1:0,82:80:-257.49,-24.12,-0.07:99 -chr1 4403585 rs780581 T C 628.63 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.75;MQ0=0;OQ=2729.37;QD=35.91;SB=-1251.85 GT:AD:DP:GL:GQ 1/1:0,76:75:-276.54,-22.59,-0.02:99 -chr1 4405826 rs780587 T C 579.37 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=1799.99;QD=35.29;SB=-764.96 GT:AD:DP:GL:GQ 1/1:0,51:50:-183.60,-15.06,-0.02:99 -chr1 4406185 rs780588 T G 731.95 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.29;MQ0=0;OQ=2276.92;QD=35.03;SB=-1150.64 GT:AD:DP:GL:GQ 1/1:0,65:65:-231.29,-19.58,-0.02:99 -chr1 4407102 rs780589 G T 206.11 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.17;MQ0=0;OQ=2615.53;QD=35.83;SB=-1329.09 GT:AD:DP:GL:GQ 1/1:0,73:72:-265.16,-21.68,-0.02:99 -chr1 4407119 rs12032561 A G 117.17 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.23;MQ0=0;OQ=2421.51;QD=30.65;SB=-1099.12 GT:AD:DP:GL:GQ 1/1:0,79:76:-245.80,-22.92,-0.06:99 -chr1 4407230 rs780590 C A 140.01 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=60.00;MQ0=0;OQ=2388.18;QD=35.64;SB=-981.59 GT:AD:DP:GL:GQ 1/1:0,67:66:-242.42,-19.88,-0.02:99 -chr1 4407326 rs780591 G C 50.40 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=59.66;MQ0=0;OQ=2352.09;QD=42.77;SB=-1101.12 GT:AD:DP:GL:GQ 1/1:0,54:54:-238.81,-16.27,-0.01:99 -chr1 4407520 rs780592 G A 361.64 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.77;MQ0=0;OQ=3300.47;QD=41.26;SB=-1496.40 GT:AD:DP:GL:GQ 1/1:0,80:80:-329.05,-24.10,-0.02:99 -chr1 4407623 rs780594 T C 139.31 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=2.07;MQ=59.52;MQ0=0;OQ=2627.95;QD=34.13;SB=-1058.85 GT:AD:DP:GL:GQ 1/1:0,77:75:-266.41,-22.59,-0.03:99 -chr1 4408032 rs705684 C T 627.36 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2940.63;QD=39.21;SB=-1334.78 GT:AD:DP:GL:GQ 1/1:0,75:74:-297.67,-22.29,-0.02:99 -chr1 4408272 rs780595 C G 8.91 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=58.81;MQ0=0;OQ=2333.53;QD=42.43;SB=-1051.66 GT:AD:DP:GL:GQ 1/1:0,55:54:-236.95,-16.27,-0.02:99 -chr1 4408429 rs2054268 A G 302.92 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.70;MQ=59.14;MQ0=0;OQ=2648.73;QD=34.85;SB=-1019.36 GT:AD:DP:GL:GQ 1/1:0,76:74:-268.49,-22.29,-0.03:99 -chr1 4408966 rs780596 C G 540.01 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.74;MQ0=0;OQ=3023.42;QD=42.58;SB=-1306.69 GT:AD:DP:GL:GQ 1/1:0,71:71:-305.95,-21.40,-0.02:99 -chr1 4409197 rs2054269 G A 716.76 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.30;MQ0=0;OQ=2812.55;QD=39.06;SB=-1393.37 GT:AD:DP:GL:GQ 1/1:0,72:71:-284.86,-21.39,-0.02:99 -chr1 4409239 rs2054270 C A 370.19 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.01;MQ0=0;OQ=2523.69;QD=36.05;SB=-1226.28 GT:AD:DP:GL:GQ 1/1:0,70:69:-255.97,-20.78,-0.02:99 -chr1 4411281 rs922114 C T 206.92 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=3.24;MQ=60.00;MQ0=0;OQ=2458.23;QD=37.82;SB=-1122.24 GT:AD:DP:GL:GQ 1/1:0,65:63:-249.43,-18.99,-0.03:99 -chr1 4411941 rs56397589 A G 10.74 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=3;HaplotypeScore=1.47;MQ=60.00;MQ0=0;OQ=772.90;QD=13.56;SB=-158.90 GT:AD:DP:GL:GQ 0/1:30,27:56:-97.44,-16.87,-122.46:99 -chr1 4412859 . G T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=1;HaplotypeScore=17.52;MQ=58.30;MQ0=0;OQ=443.68;QD=5.55;SB=107.30 GT:AD:DP:GL:GQ 0/1:54,26:67:-67.84,-20.19,-156.44:99 -chr1 4413809 rs780599 T C 203.02 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=933.92;QD=15.06;SB=-130.24 GT:AD:DP:GL:GQ 0/1:31,31:62:-115.35,-18.67,-127.44:99 -chr1 4413942 rs1235308 A G 208.55 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=59.56;MQ0=0;OQ=574.66;QD=10.84;SB=-295.15 GT:AD:DP:GL:GQ 0/1:24,29:45:-74.32,-13.57,-86.44:99 -chr1 4413949 rs12135334 A G 227.02 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.57;MQ0=0;OQ=600.78;QD=11.13;SB=-278.65 GT:AD:DP:GL:GQ 0/1:25,29:50:-78.44,-15.07,-99.43:99 -chr1 4414313 rs11584026 G A 462.20 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.70;MQ0=0;OQ=1258.44;QD=16.56;SB=-579.09 GT:AD:DP:GL:GQ 0/1:37,39:74:-151.43,-22.31,-123.49:99 -chr1 4415137 rs1213919 T C 340.20 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.64;MQ0=0;OQ=1036.94;QD=16.20;SB=-428.11 GT:AD:DP:GL:GQ 0/1:27,37:63:-125.96,-18.98,-110.60:99 -chr1 4415275 rs6426411 G A 271.15 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=1.51;MQ=58.90;MQ0=0;OQ=891.44;QD=15.11;SB=-416.76 GT:AD:DP:GL:GQ 0/1:31,28:59:-110.20,-17.77,-112.97:99 -chr1 4415367 rs6663198 A C 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=21.51;MQ=59.22;MQ0=0;OQ=1036.43;QD=12.49;SB=-473.70 GT:AD:DP:GL:GQ 0/1:44,39:81:-131.33,-24.40,-153.13:99 -chr1 4416433 rs12131294 C T 93.74 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=2.89;MQ=59.15;MQ0=0;OQ=414.02;QD=9.20;SB=-113.50 GT:AD:DP:GL:GQ 0/1:24,20:37:-55.83,-11.15,-84.17:99 -chr1 4416884 . G A 3.05 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=5.94;MQ=57.87;MQ0=0;OQ=823.53;QD=14.97;SB=-276.27 GT:AD:DP:GL:GQ 0/1:30,25:53:-101.62,-15.98,-87.09:99 -chr1 4417194 rs7550318 A T 249.83 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=2.46;MQ=57.79;MQ0=0;OQ=1140.48;QD=17.28;SB=-502.48 GT:AD:DP:GL:GQ 0/1:29,37:65:-136.91,-19.58,-108.54:99 -chr1 4417494 . G A 25.73 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=20;HaplotypeScore=6.20;MQ=50.61;MQ0=1;QD=0.42;SB=98.27 GT:AD:DP:GL:GQ 0/1:53,9:50:-20.92,-15.07,-146.64:58.56 -chr1 4417741 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=39;Dels=0.00;HRun=20;HaplotypeScore=20.09;MQ=49.19;MQ0=1;OQ=84.58;QD=2.17;SB=26.11 GT:AD:DP:GL:GQ 0/1:26,12:27:-19.88,-8.14,-73.60:99 -chr1 4417905 rs642409 A G 618.44 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.41;MQ0=0;OQ=2544.54;QD=34.39;SB=-1201.82 GT:AD:DP:GL:GQ 1/1:0,74:71:-258.06,-21.38,-0.02:99 -chr1 4418004 rs10127576 A G 16.51 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=5.95;MQ=57.57;MQ0=1;OQ=493.53;QD=8.97;SB=-221.25 GT:AD:DP:GL:GQ 0/1:34,21:50:-67.70,-15.07,-117.20:99 -chr1 4420145 rs6426412 G T 345.35 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=59.50;MQ0=0;OQ=1296.90;QD=17.29;SB=-663.60 GT:AD:DP:GL:GQ 0/1:33,42:75:-155.57,-22.59,-114.39:99 -chr1 4420362 . C T 102.52 PASS AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.20;MQ=60.52;MQ0=0;OQ=920.19;QD=15.34;SB=-456.47 GT:AD:DP:GL:GQ 0/1:27,31:53:-111.28,-15.98,-79.42:99 -chr1 4421024 rs12137057 A C 291.19 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=701.05;QD=10.62;SB=-364.06 GT:AD:DP:GL:GQ 0/1:39,27:63:-92.36,-18.97,-137.12:99 -chr1 4421180 rs61771168 T G 222.08 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=1;HaplotypeScore=1.81;MQ=59.49;MQ0=0;OQ=588.51;QD=13.08;SB=-310.47 GT:AD:DP:GL:GQ 0/1:23,22:43:-75.09,-12.95,-79.35:99 -chr1 4421771 . C T 52.82 PASS AC=1;AF=0.50;AN=2;DP=35;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=58.00;MQ0=0;OQ=457.94;QD=13.08;SB=-230.51 GT:AD:DP:GL:GQ 0/1:18,17:32:-58.72,-9.64,-61.49:99 -chr1 4422658 . C T 17.02 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=1;HaplotypeScore=3.11;MQ=59.25;MQ0=0;OQ=990.31;QD=15.97;SB=-404.43 GT:AD:DP:GL:GQ 0/1:32,30:60:-120.40,-18.09,-95.94:99 -chr1 4423184 . G A 28.31 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=59.25;MQ0=0;OQ=1264.58;QD=20.40;SB=-650.72 GT:AD:DP:GL:GQ 0/1:26,36:62:-148.42,-18.68,-94.18:99 -chr1 4423217 rs664520 C T 648.65 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.05;MQ0=0;OQ=1886.50;QD=38.50;SB=-821.33 GT:AD:DP:GL:GQ 1/1:0,49:49:-192.25,-14.76,-0.02:99 -chr1 4423270 rs17453664 G A 225.88 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=2.40;MQ=58.29;MQ0=0;OQ=839.10;QD=16.14;SB=-245.23 GT:AD:DP:GL:GQ 0/1:25,27:50:-102.26,-15.06,-88.51:99 -chr1 4424136 . C G 13.14 PASS AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=4.07;MQ=59.20;MQ0=0;OQ=717.79;QD=15.27;SB=-220.02 GT:AD:DP:GL:GQ 0/1:26,21:46:-88.93,-13.87,-108.02:99 -chr1 4424195 rs16839046 G A 266.41 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=59.35;MQ0=0;OQ=1078.45;QD=16.85;SB=-521.17 GT:AD:DP:GL:GQ 0/1:30,33:62:-129.81,-18.69,-96.72:99 -chr1 4424280 rs17419859 G A 351.26 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=59.18;MQ0=0;OQ=665.56;QD=13.05;SB=-350.50 GT:AD:DP:GL:GQ 0/1:25,26:46:-83.71,-13.87,-77.13:99 -chr1 4424589 rs681175 T C 281.02 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=1804.45;QD=35.38;SB=-864.37 GT:AD:DP:GL:GQ 1/1:0,51:50:-184.04,-15.06,-0.01:99 -chr1 4426611 rs16839061 C T 6.85 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=8.78;MQ=59.11;MQ0=0;OQ=724.58;QD=13.42;SB=-330.47 GT:AD:DP:GL:GQ 0/1:31,23:51:-91.11,-15.37,-92.01:99 -chr1 4427201 rs350167 T C 190.81 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.58;MQ=59.66;MQ0=0;OQ=925.11;QD=16.82;SB=-378.98 GT:AD:DP:GL:GQ 0/1:23,32:53:-111.76,-15.96,-93.83:99 -chr1 4427323 . G A 294.49 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.28;MQ0=0;OQ=680.55;QD=13.09;SB=-356.53 GT:AD:DP:GL:GQ 0/1:28,24:44:-84.60,-13.26,-76.63:99 -chr1 4433698 . G A 123.19 PASS AC=1;AF=0.50;AN=2;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.52;MQ0=0;OQ=1403.52;QD=17.99;SB=-721.04 GT:AD:DP:GL:GQ 0/1:36,42:75:-166.24,-22.60,-109.14:99 -chr1 4433807 . T G 23.74 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=3;HaplotypeScore=5.51;MQ=60.00;MQ0=0;QD=0.37;SB=80.27 GT:AD:DP:GL:GQ 0/1:45,20:51:-21.03,-15.37,-149.91:56.55 -chr1 4434327 rs645724 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=38.18;MQ=55.12;MQ0=0;OQ=2008.88;QD=24.50;SB=-765.25 GT:AD:DP:GL:GQ 0/1:13,69:74:-226.47,-22.30,-33.80:99 -chr1 4434328 rs55641638 T A 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=5;HaplotypeScore=34.59;MQ=55.12;MQ0=0;OQ=2483.75;QD=30.29;SB=-1104.11 GT:AD:DP:GL:GQ 1/1:7,75:79:-274.28,-23.80,-22.35:14.43 -chr1 4434380 rs350168 C T 706.48 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.94;MQ0=0;OQ=2402.65;QD=38.14;SB=-988.02 GT:AD:DP:GL:GQ 1/1:0,63:61:-243.87,-18.38,-0.02:99 -chr1 4434761 . C A 101.78 PASS AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=59.39;MQ0=0;OQ=1132.04;QD=16.65;SB=-530.30 GT:AD:DP:GL:GQ 0/1:30,38:67:-136.67,-20.18,-105.81:99 -chr1 4435588 rs350169 T A 602.50 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.75;MQ0=0;OQ=1092.18;QD=14.76;SB=-420.48 GT:AD:DP:GL:GQ 0/1:38,36:74:-134.79,-22.29,-147.43:99 -chr1 4439106 rs610189 T C 76.59 PASS AC=2;AF=1.00;AN=2;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.49;MQ0=0;OQ=3044.46;QD=31.07;SB=-1448.66 GT:AD:DP:GL:GQ 1/1:0,98:95:-308.11,-28.64,-0.07:99 -chr1 4440903 rs13376654 C A 79.52 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=3.21;MQ=58.73;MQ0=0;OQ=748.18;QD=13.60;SB=-293.00 GT:AD:DP:GL:GQ 0/1:29,26:54:-94.37,-16.27,-89.76:99 -chr1 4440904 rs638289 A G 184.76 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=3.21;MQ=59.14;MQ0=0;OQ=1717.40;QD=31.80;SB=-743.85 GT:AD:DP:GL:GQ 1/1:0,54:53:-175.37,-15.98,-0.04:99 -chr1 4441250 rs11799990 A C 16.32 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=4.98;MQ=58.47;MQ0=0;OQ=285.71;QD=5.19;SB=-147.75 GT:AD:DP:GL:GQ 0/1:37,17:50:-46.92,-15.06,-127.84:99 -chr1 4441285 rs6426418 T C 92.05 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=4.50;MQ=58.52;MQ0=0;OQ=434.66;QD=7.63;SB=-199.21 GT:AD:DP:GL:GQ 0/1:38,19:55:-63.32,-16.57,-152.10:99 -chr1 4441304 rs16839089 G A 505.50 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.35;MQ0=0;OQ=685.41;QD=10.71;SB=-336.42 GT:AD:DP:GL:GQ 0/1:40,24:63:-90.81,-18.98,-145.42:99 -chr1 4441520 . C T 159.13 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.36;MQ=59.58;MQ0=0;OQ=767.39;QD=13.95;SB=-405.80 GT:AD:DP:GL:GQ 0/1:29,25:52:-95.70,-15.68,-88.39:99 -chr1 4441584 rs28597953 G C 102.96 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=59.54;MQ0=0;OQ=377.89;QD=7.56;SB=-189.56 GT:AD:DP:GL:GQ 0/1:35,14:50:-59.58,-18.50,-155.34:99 -chr1 4441595 rs12057544 C T 296.32 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.48;MQ0=0;OQ=442.52;QD=10.06;SB=-117.50 GT:AD:DP:GL:GQ 0/1:29,15:44:-60.79,-13.25,-105.58:99 -chr1 4441615 rs12094629 G A 446.77 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.36;MQ0=0;OQ=438.29;QD=12.17;SB=-145.60 GT:AD:DP:GL:GQ 0/1:21,15:35:-57.67,-10.56,-64.23:99 -chr1 4442760 rs705686 T G 190.01 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=58.65;MQ0=0;OQ=1305.06;QD=29.00;SB=-525.86 GT:AD:DP:GL:GQ 1/1:0,45:42:-134.13,-12.66,-0.04:99 -chr1 4443102 rs16839093 T A 368.23 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.49;MQ=60.00;MQ0=0;OQ=943.42;QD=16.85;SB=-414.85 GT:AD:DP:GL:GQ 0/1:25,31:55:-114.19,-16.57,-93.32:99 -chr1 4443523 rs6656245 A G 229.68 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=4.49;MQ=59.68;MQ0=0;OQ=985.54;QD=13.50;SB=-516.93 GT:AD:DP:GL:GQ 0/1:35,37:70:-125.21,-23.37,-142.93:99 -chr1 4444038 rs350170 T C 370.74 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=60.00;MQ0=0;OQ=854.91;QD=14.49;SB=-264.93 GT:AD:DP:GL:GQ 0/1:30,29:59:-106.55,-17.78,-120.47:99 -chr1 4444166 . C T 124.24 PASS AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.74;MQ0=0;OQ=1098.39;QD=15.05;SB=-487.09 GT:AD:DP:GL:GQ 0/1:39,34:70:-134.21,-21.09,-126.03:99 -chr1 4446069 rs16839101 C T 439.86 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.34;MQ0=0;OQ=969.43;QD=15.39;SB=-381.11 GT:AD:DP:GL:GQ 0/1:31,32:61:-118.60,-18.38,-109.31:99 -chr1 4448313 rs705687 A G 587.11 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.53;MQ0=0;OQ=1218.14;QD=32.06;SB=-513.41 GT:AD:DP:GL:GQ 1/1:0,38:37:-125.42,-11.15,-0.02:99 -chr1 4448490 rs10799234 G A 167.56 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.07;MQ0=0;OQ=924.80;QD=18.50;SB=-481.51 GT:AD:DP:GL:GQ 0/1:22,28:50:-110.83,-15.07,-72.35:99 -chr1 4449095 . G T 15.09 PASS AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=59.46;MQ0=0;OQ=820.94;QD=19.09;SB=-383.80 GT:AD:DP:GL:GQ 0/1:15,28:42:-98.03,-12.65,-50.79:99 -chr1 4449190 . G A 102.60 PASS AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.43;MQ0=0;OQ=1775.95;QD=21.93;SB=-864.43 GT:AD:DP:GL:GQ 0/1:30,51:79:-204.67,-23.80,-104.40:99 -chr1 4449240 rs705690 G A 133.54 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=59.24;MQ0=0;OQ=3632.63;QD=39.92;SB=-1598.65 GT:AD:DP:GL:GQ 1/1:0,91:90:-362.26,-27.11,-0.03:99 -chr1 4449262 rs780606 A G 76.06 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=59.06;MQ0=0;OQ=718.78;QD=9.71;SB=-329.85 GT:AD:DP:GL:GQ 0/1:44,30:73:-97.16,-22.00,-175.35:99 -chr1 4449723 . G A 148.11 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.81;MQ=59.52;MQ0=0;OQ=713.60;QD=14.87;SB=-335.48 GT:AD:DP:GL:GQ 0/1:25,23:48:-89.11,-14.47,-81.14:99 -chr1 4449964 rs706145 G A 636.09 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=2653.69;QD=37.38;SB=-1188.98 GT:AD:DP:GL:GQ 1/1:0,71:69:-268.98,-20.79,-0.03:99 -chr1 4452662 rs1878052 G A 714.61 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2298.20;QD=38.95;SB=-1111.02 GT:AD:DP:GL:GQ 1/1:0,59:59:-233.42,-17.78,-0.02:99 -chr1 4454614 . A C 20.74 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=601.74;QD=13.68;SB=-220.89 GT:AD:DP:GL:GQ 0/1:20,24:43:-76.41,-12.95,-71.27:99 -chr1 4455561 rs10737412 T A 735.37 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=2244.31;QD=37.41;SB=-1132.68 GT:AD:DP:GL:GQ 1/1:0,60:60:-228.03,-18.07,-0.02:99 -chr1 4455707 rs4654547 C T 580.91 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.52;MQ0=1;OQ=2435.91;QD=38.67;SB=-681.41 GT:AD:DP:GL:GQ 1/1:0,63:61:-247.19,-18.38,-0.02:99 -chr1 4456823 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=121.08;MQ=43.96;MQ0=0;OQ=445.21;QD=5.86;SB=-205.75 GT:AD:DP:GL:GQ 0/1:54,22:71:-69.19,-21.39,-207.74:99 -chr1 4456825 rs61765158 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=3;HaplotypeScore=133.78;MQ=43.18;MQ0=0;OQ=324.30;QD=4.44;SB=-88.42 GT:AD:DP:GL:GQ 0/1:59,14:70:-56.80,-21.09,-201.65:99 -chr1 4456850 rs780601 T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=50.11;MQ=42.32;MQ0=0;OQ=775.14;QD=10.77;SB=-395.42 GT:AD:DP:GL:GQ 0/1:41,31:67:-100.98,-20.18,-144.33:99 -chr1 4457263 rs780603 T C 535.20 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.13;MQ0=0;OQ=1544.09;QD=29.13;SB=-491.17 GT:AD:DP:GL:GQ 1/1:0,53:48:-158.03,-14.47,-0.03:99 -chr1 4457873 rs9659744 G A 216.40 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=4.18;MQ=58.81;MQ0=0;OQ=722.66;QD=13.14;SB=-250.79 GT:AD:DP:GL:GQ 0/1:29,25:52:-94.30,-18.75,-103.70:99 -chr1 4457887 rs12029583 T C 182.25 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.02;MQ=58.88;MQ0=0;OQ=815.22;QD=14.06;SB=-229.41 GT:AD:DP:GL:GQ 0/1:25,33:54:-101.08,-16.28,-89.40:99 -chr1 4458652 rs10915548 G A 313.44 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.49;MQ=58.63;MQ0=0;OQ=1202.04;QD=18.21;SB=-612.14 GT:AD:DP:GL:GQ 0/1:31,35:64:-142.78,-19.29,-94.64:99 -chr1 4458793 rs609506 T C 135.30 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=58.91;MQ0=0;OQ=2002.23;QD=32.82;SB=-965.38 GT:AD:DP:GL:GQ 1/1:0,61:57:-203.83,-17.17,-0.03:99 -chr1 4458832 rs13374152 G A 510.02 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.65;MQ0=0;OQ=1323.30;QD=19.75;SB=-559.77 GT:AD:DP:GL:GQ 0/1:28,39:65:-155.19,-19.58,-97.96:99 -chr1 4459077 rs10799235 G C 517.01 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2392.46;QD=41.97;SB=-1062.67 GT:AD:DP:GL:GQ 1/1:0,57:55:-242.85,-16.57,-0.02:99 -chr1 4459761 rs4654438 T C 731.30 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=52.40;MQ0=0;OQ=2338.83;QD=34.91;SB=-1062.10 GT:AD:DP:GL:GQ 1/1:0,67:66:-237.49,-19.88,-0.02:99 -chr1 4460253 . G A 71.25 PASS AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=54.34;MQ0=0;OQ=761.29;QD=16.20;SB=-383.16 GT:AD:DP:GL:GQ 0/1:23,24:45:-92.98,-13.56,-67.37:99 -chr1 4460265 rs9660574 G A 698.27 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.97;MQ0=0;OQ=1971.68;QD=38.66;SB=-993.84 GT:AD:DP:GL:GQ 1/1:0,51:50:-200.77,-15.06,-0.01:99 -chr1 4460731 rs675509 A G 75.44 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=59.19;MQ0=0;OQ=1733.09;QD=33.33;SB=-850.97 GT:AD:DP:GL:GQ 1/1:0,52:50:-176.92,-15.06,-0.02:99 -chr1 4460821 rs675641 C T 619.56 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=2267.76;QD=39.10;SB=-1112.00 GT:AD:DP:GL:GQ 1/1:0,58:57:-230.38,-17.17,-0.02:99 -chr1 4462336 rs4654548 G A 293.32 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.55;MQ0=0;OQ=1820.62;QD=35.70;SB=-883.64 GT:AD:DP:GL:GQ 1/1:0,51:47:-185.66,-14.16,-0.02:99 -chr1 4462612 rs661886 C G 122.47 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1803.84;QD=41.95;SB=-867.51 GT:AD:DP:GL:GQ 1/1:0,43:43:-183.98,-12.96,-0.01:99 -chr1 4462757 rs597453 T C 1.51 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=3;HaplotypeScore=2.36;MQ=60.00;MQ0=0;OQ=1873.91;QD=29.28;SB=-570.21 GT:AD:DP:GL:GQ 1/1:0,64:56:-191.00,-16.87,-0.03:99 -chr1 4463867 rs10799237 G A 181.35 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.45;MQ=59.13;MQ0=0;OQ=2001.42;QD=37.76;SB=-711.98 GT:AD:DP:GL:GQ 1/1:0,53:51:-203.74,-15.36,-0.01:99 -chr1 4464187 . T C 30.12 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.10;MQ=59.33;MQ0=0;OQ=552.68;QD=8.91;SB=-289.28 GT:AD:DP:GL:GQ 0/1:39,23:60:-76.63,-18.08,-155.34:99 -chr1 4465057 rs4654549 G A 100.14 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=3.11;MQ=59.46;MQ0=0;OQ=1572.23;QD=20.42;SB=-717.81 GT:AD:DP:GL:GQ 0/1:31,46:75:-183.10,-22.59,-108.27:99 -chr1 4465240 rs4654439 A G 186.31 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=59.65;MQ0=0;OQ=1824.70;QD=28.07;SB=-920.11 GT:AD:DP:GL:GQ 1/1:1,64:61:-189.47,-18.40,-3.41:99 -chr1 4465350 rs4654550 C T 464.58 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=59.14;MQ0=0;OQ=1183.55;QD=15.57;SB=-491.13 GT:AD:DP:GL:GQ 0/1:39,37:73:-143.65,-22.01,-117.80:99 -chr1 4465703 rs16839157 C G 292.75 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=2.96;MQ=59.46;MQ0=0;OQ=1332.22;QD=15.49;SB=-637.02 GT:AD:DP:GL:GQ 0/1:48,38:85:-162.12,-25.61,-205.23:99 -chr1 4465766 rs10753381 C T 668.70 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.33;MQ0=0;OQ=2452.18;QD=39.55;SB=-960.97 GT:AD:DP:GL:GQ 1/1:0,62:62:-248.82,-18.68,-0.02:99 -chr1 4465913 rs10753382 A C 344.57 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=2.23;MQ=42.45;MQ0=0;OQ=1152.30;QD=15.16;SB=-375.76 GT:AD:DP:GL:GQ 0/1:35,41:75:-141.10,-22.59,-129.43:99 -chr1 4465925 rs4654440 A G 314.62 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=45.24;MQ0=0;OQ=2545.78;QD=35.36;SB=-1008.34 GT:AD:DP:GL:GQ 1/1:0,72:72:-258.19,-21.69,-0.03:99 -chr1 4466035 rs4654551 T C 137.52 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=59.71;MQ0=0;OQ=2345.07;QD=29.31;SB=-919.32 GT:AD:DP:GL:GQ 1/1:0,80:75:-238.17,-22.62,-0.07:99 -chr1 4466375 rs4654441 A G 153.58 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=1.97;MQ=59.14;MQ0=0;OQ=1252.72;QD=16.48;SB=-599.98 GT:AD:DP:GL:GQ 0/1:32,44:75:-151.15,-22.60,-128.71:99 -chr1 4466539 . G C 13.68 PASS AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=1;HaplotypeScore=2.10;MQ=60.00;MQ0=0;OQ=1133.87;QD=19.22;SB=-442.73 GT:AD:DP:GL:GQ 0/1:26,33:58:-134.16,-17.49,-113.78:99 -chr1 4466591 rs7537577 T C 558.12 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=1692.69;QD=36.01;SB=-710.63 GT:AD:DP:GL:GQ 1/1:0,47:47:-172.87,-14.16,-0.01:99 -chr1 4466655 rs1870509 A G 172.47 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.09;MQ=58.79;MQ0=0;OQ=1784.46;QD=27.04;SB=-725.30 GT:AD:DP:GL:GQ 1/1:0,66:58:-182.10,-17.50,-0.07:99 -chr1 4467025 rs1018306 G A 522.41 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.05;MQ0=0;OQ=2397.83;QD=37.47;SB=-678.32 GT:AD:DP:GL:GQ 1/1:0,64:61:-243.39,-18.38,-0.02:99 -chr1 4467405 . G A 173.51 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=60.00;MQ0=0;OQ=1037.40;QD=16.73;SB=-505.13 GT:AD:DP:GL:GQ 0/1:31,31:60:-125.11,-18.08,-96.58:99 -chr1 4467882 rs10799238 G A 201.42 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=57.23;MQ0=0;OQ=2039.74;QD=37.09;SB=-730.98 GT:AD:DP:GL:GQ 1/1:0,54:52:-207.58,-15.67,-0.02:99 -chr1 4468054 rs10799239 G T 526.93 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.10;MQ0=0;OQ=2381.50;QD=35.54;SB=-1199.06 GT:AD:DP:GL:GQ 1/1:0,67:66:-241.76,-19.88,-0.02:99 -chr1 4468702 rs780570 T C 301.27 PASS AC=2;AF=1.00;AN=2;DB;DP=22;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=55.66;MQ0=0;OQ=692.07;QD=31.46;SB=-209.70 GT:AD:DP:GL:GQ 1/1:0,22:21:-72.80,-6.33,-0.01:63.17 -chr1 4468728 . G A 3.90 PASS AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=1;HaplotypeScore=1.85;MQ=52.20;MQ0=0;OQ=192.92;QD=6.65;SB=-94.59 GT:AD:DP:GL:GQ 0/1:18,10:25:-30.11,-7.53,-60.00:99 -chr1 4468760 rs60725706 C T 2.79 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=2.68;MQ=47.80;MQ0=0;OQ=892.66;QD=25.50;SB=-420.32 GT:AD:DP:GL:GQ 1/1:1,34:26:-92.87,-7.84,-0.02:78.22 -chr1 4468793 . C T 155.10 SnpCluster AC=1;AF=0.50;AN=2;DP=45;Dels=0.00;HRun=2;HaplotypeScore=28.66;MQ=43.47;MQ0=0;QD=3.45;SB=-75.82 GT:AD:DP:GL:GQ 0/1:34,11:31:-28.13,-9.34,-89.19:99 -chr1 4468798 rs57105176 C T 210.28 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=33.72;MQ=43.23;MQ0=0;QD=4.38;SB=-105.47 GT:AD:DP:GL:GQ 0/1:33,15:33:-34.25,-9.94,-88.69:99 -chr1 4468800 . C T 23.55 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=49;Dels=0.00;HRun=2;HaplotypeScore=34.30;MQ=43.63;MQ0=0;QD=0.48;SB=32.09 GT:AD:DP:GL:GQ 0/1:44,5:35:-16.18,-10.54,-113.19:56.36 -chr1 4468801 . T C 10.10 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=1;HaplotypeScore=35.27;MQ=44.04;MQ0=0;QD=0.21;SB=32.13 GT:AD:DP:GL:GQ 0/1:43,5:35:-14.79,-10.54,-128.12:42.49 -chr1 4469243 rs12031045 G A 324.76 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=623.89;QD=15.22;SB=-230.72 GT:AD:DP:GL:GQ 0/1:20,21:41:-78.04,-12.36,-70.49:99 -chr1 4469296 rs780569 T A 228.26 PASS AC=2;AF=1.00;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.28;MQ0=0;OQ=1316.01;QD=34.63;SB=-627.73 GT:AD:DP:GL:GQ 1/1:0,38:37:-135.20,-11.15,-0.01:99 -chr1 4469318 rs12035160 A T 129.07 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=57.81;MQ0=0;OQ=613.76;QD=19.18;SB=-234.94 GT:AD:DP:GL:GQ 0/1:11,21:31:-74.00,-9.34,-42.52:99 -chr1 4469407 rs10799241 A G 224.26 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=1.03;MQ=57.87;MQ0=0;OQ=407.85;QD=8.87;SB=-207.21 GT:AD:DP:GL:GQ 0/1:29,17:45:-57.62,-13.55,-119.36:99 -chr1 4469520 rs16839168 G A 432.40 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=60.00;MQ0=0;OQ=846.65;QD=16.28;SB=-413.43 GT:AD:DP:GL:GQ 0/1:26,26:51:-103.31,-15.37,-89.05:99 -chr1 4469555 rs16839171 G T 425.50 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.63;MQ0=0;OQ=647.76;QD=12.70;SB=-289.64 GT:AD:DP:GL:GQ 0/1:27,24:51:-83.43,-15.37,-93.72:99 -chr1 4469694 rs780568 A G 87.34 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=2;HaplotypeScore=1.60;MQ=59.63;MQ0=0;OQ=1699.95;QD=33.33;SB=-755.94 GT:AD:DP:GL:GQ 1/1:0,51:49:-173.60,-14.76,-0.02:99 -chr1 4470136 rs16839175 T C 275.26 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=59.63;MQ0=0;OQ=746.25;QD=11.85;SB=-286.15 GT:AD:DP:GL:GQ 0/1:31,32:61:-96.29,-18.39,-125.52:99 -chr1 4470246 rs1612698 A G 417.84 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.34;MQ=60.15;MQ0=0;OQ=917.82;QD=12.40;SB=-358.93 GT:AD:DP:GL:GQ 0/1:42,32:74:-117.36,-22.29,-169.05:99 -chr1 4470842 rs4654552 C T 182.29 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=2.85;MQ=59.68;MQ0=0;OQ=1084.53;QD=15.28;SB=-349.06 GT:AD:DP:GL:GQ 0/1:37,34:71:-133.13,-21.39,-131.43:99 -chr1 4471600 rs1710415 A G 89.74 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=59.45;MQ0=0;OQ=1235.30;QD=29.41;SB=-309.47 GT:AD:DP:GL:GQ 1/1:0,42:39:-127.15,-11.76,-0.03:99 -chr1 4471806 rs1762825 T A 126.40 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=59.16;MQ0=0;OQ=1997.53;QD=36.32;SB=-643.98 GT:AD:DP:GL:GQ 1/1:0,55:54:-203.35,-16.27,-0.02:99 -chr1 4471883 rs10915549 G A 333.26 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.45;MQ0=0;OQ=443.28;QD=10.55;SB=-159.64 GT:AD:DP:GL:GQ 0/1:26,16:40:-59.67,-12.06,-79.56:99 -chr1 4472000 rs4654442 G A 195.09 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.37;MQ0=0;OQ=2467.21;QD=37.38;SB=-970.01 GT:AD:DP:GL:GQ 1/1:0,66:62:-250.32,-18.68,-0.02:99 -chr1 4472928 rs4568797 G T 198.75 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=2.61;MQ=59.01;MQ0=0;OQ=1306.78;QD=17.19;SB=-394.04 GT:AD:DP:GL:GQ 0/1:30,46:73:-155.95,-21.99,-98.20:99 -chr1 4472959 rs4480324 A G 92.82 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=59.63;MQ0=0;OQ=1914.93;QD=30.40;SB=-560.92 GT:AD:DP:GL:GQ 1/1:0,63:60:-195.13,-18.10,-0.06:99 -chr1 4472994 rs4323680 T C 685.55 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=1931.20;QD=32.73;SB=-824.33 GT:AD:DP:GL:GQ 1/1:0,59:55:-196.72,-16.57,-0.02:99 -chr1 4473017 rs4437847 T C 44.80 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=58.88;MQ0=0;OQ=1770.27;QD=28.55;SB=-781.74 GT:AD:DP:GL:GQ 1/1:0,62:55:-180.66,-16.58,-0.05:99 -chr1 4473102 rs4442344 T C 686.66 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.07;MQ0=0;OQ=1772.96;QD=35.46;SB=-792.00 GT:AD:DP:GL:GQ 1/1:0,50:50:-180.90,-15.06,-0.02:99 -chr1 4473320 rs1710418 A G 44.26 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.58;MQ0=0;OQ=1771.10;QD=32.20;SB=-713.21 GT:AD:DP:GL:GQ 1/1:0,54:51:-180.72,-15.36,-0.02:99 -chr1 4473327 rs1762828 G A 169.38 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.60;MQ0=0;OQ=2054.72;QD=36.05;SB=-823.34 GT:AD:DP:GL:GQ 1/1:0,57:53:-209.08,-15.97,-0.02:99 -chr1 4473546 rs1710419 C A 168.66 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=2.06;MQ=57.84;MQ0=0;OQ=1495.45;QD=32.51;SB=-770.46 GT:AD:DP:GL:GQ 1/1:0,46:43:-153.15,-12.95,-0.02:99 -chr1 4473664 rs1710420 C T 149.96 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=59.20;MQ0=0;OQ=902.97;QD=15.57;SB=-230.52 GT:AD:DP:GL:GQ 0/1:30,28:57:-110.76,-17.18,-94.35:99 -chr1 4473849 rs1710421 C T 247.57 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.67;MQ0=0;OQ=2607.62;QD=37.79;SB=-1041.32 GT:AD:DP:GL:GQ 1/1:0,69:66:-264.37,-19.88,-0.02:99 -chr1 4473977 rs1710422 C T 77.88 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=58.90;MQ0=0;OQ=2084.84;QD=37.91;SB=-795.07 GT:AD:DP:GL:GQ 1/1:0,55:54:-212.09,-16.27,-0.02:99 -chr1 4473997 rs1710423 T C 135.26 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=59.07;MQ0=0;OQ=1147.64;QD=25.50;SB=-601.59 GT:AD:DP:GL:GQ 1/1:0,45:37:-118.39,-11.16,-0.04:99 -chr1 4474861 rs1710424 A G 675.73 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.21;MQ0=0;OQ=2263.90;QD=31.89;SB=-1103.74 GT:AD:DP:GL:GQ 1/1:0,71:67:-230.02,-20.19,-0.04:99 -chr1 4475148 rs12036337 G A 158.77 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=3.64;MQ=56.87;MQ0=1;OQ=1002.66;QD=14.75;SB=-286.76 GT:AD:DP:GL:GQ 0/1:34,34:59:-121.33,-17.78,-94.02:99 -chr1 4475283 . G A 82.68 PASS AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.84;MQ=59.35;MQ0=0;OQ=845.94;QD=13.22;SB=-362.87 GT:AD:DP:GL:GQ 0/1:34,30:60:-105.97,-18.09,-111.99:99 -chr1 4475382 rs10915550 C T 345.50 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=58.10;MQ0=0;OQ=927.67;QD=14.96;SB=-380.90 GT:AD:DP:GL:GQ 0/1:33,29:62:-114.73,-18.68,-118.48:99 -chr1 4476131 rs10737413 C T 15.63 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=59.60;MQ0=0;OQ=1742.86;QD=37.08;SB=-655.67 GT:AD:DP:GL:GQ 1/1:0,47:45:-177.88,-13.56,-0.01:99 -chr1 4476657 rs1710430 C G 535.69 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.67;MQ0=0;OQ=2311.95;QD=41.28;SB=-1026.21 GT:AD:DP:GL:GQ 1/1:0,56:54:-234.80,-16.27,-0.02:99 -chr1 4476980 rs4654443 C T 562.55 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=1325.65;QD=15.60;SB=-630.22 GT:AD:DP:GL:GQ 0/1:45,40:85:-161.45,-25.60,-165.34:99 -chr1 4477487 rs12033789 G T 214.07 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=1.85;MQ=60.00;MQ0=0;OQ=905.30;QD=15.34;SB=-363.43 GT:AD:DP:GL:GQ 0/1:29,30:59:-111.58,-17.77,-100.35:99 -chr1 4477488 rs12036603 C T 258.44 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=60.00;MQ0=0;OQ=969.57;QD=16.16;SB=-419.81 GT:AD:DP:GL:GQ 0/1:30,30:59:-118.02,-17.78,-101.27:99 -chr1 4478406 rs596607 G A 55.59 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=59.40;MQ0=0;OQ=1761.44;QD=22.88;SB=-768.34 GT:AD:DP:GL:GQ 0/1:27,50:75:-202.03,-22.60,-83.51:99 -chr1 4478558 rs12039806 T A 70.60 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=6.67;MQ=59.12;MQ0=0;OQ=1156.91;QD=14.64;SB=-441.48 GT:AD:DP:GL:GQ 0/1:42,37:77:-142.17,-23.19,-150.58:99 -chr1 4478614 rs12039814 T C 10.71 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=7.09;MQ=59.66;MQ0=0;OQ=671.25;QD=10.02;SB=-294.21 GT:AD:DP:GL:GQ 0/1:37,30:64:-89.71,-19.30,-136.10:99 -chr1 4478650 rs12038994 A T 269.76 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.65;MQ0=0;OQ=1147.45;QD=17.39;SB=-509.94 GT:AD:DP:GL:GQ 0/1:28,38:64:-137.31,-19.28,-105.10:99 -chr1 4478709 . A C 2.11 PASS AC=1;AF=0.50;AN=2;DP=73;Dels=0.00;HRun=1;HaplotypeScore=7.65;MQ=58.73;MQ0=0;OQ=1101.58;QD=15.09;SB=-425.69 GT:AD:DP:GL:GQ 0/1:30,42:69:-134.23,-20.79,-106.44:99 -chr1 4478753 rs16839198 G T 52.90 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=7.25;MQ=58.23;MQ0=0;OQ=906.23;QD=13.73;SB=-344.31 GT:AD:DP:GL:GQ 0/1:32,33:64:-113.20,-19.29,-98.09:99 -chr1 4478891 . A G 89.93 PASS AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.48;MQ=59.39;MQ0=0;OQ=917.93;QD=13.50;SB=-396.16 GT:AD:DP:GL:GQ 0/1:36,32:68:-115.57,-20.49,-141.62:99 -chr1 4478991 rs12039070 A G 301.10 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=3.59;MQ=59.71;MQ0=0;OQ=1280.19;QD=16.00;SB=-441.58 GT:AD:DP:GL:GQ 0/1:37,43:80:-155.40,-24.10,-149.81:99 -chr1 4479035 rs12034930 G A 326.95 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.45;MQ=59.68;MQ0=0;OQ=1133.14;QD=15.74;SB=-491.00 GT:AD:DP:GL:GQ 0/1:34,37:69:-137.39,-20.79,-119.61:99 -chr1 4479073 rs12039100 A G 27.26 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=3.20;MQ=58.95;MQ0=0;OQ=915.49;QD=13.87;SB=-279.55 GT:AD:DP:GL:GQ 0/1:35,31:66:-114.72,-19.89,-140.84:99 -chr1 4479099 rs12039101 A G 318.42 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=3.13;MQ=59.02;MQ0=0;OQ=1020.75;QD=14.38;SB=-348.94 GT:AD:DP:GL:GQ 0/1:36,35:70:-126.45,-21.09,-134.68:99 -chr1 4479118 rs1229148 A G 277.76 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=1.65;MQ=59.11;MQ0=0;OQ=784.46;QD=10.75;SB=-374.59 GT:AD:DP:GL:GQ 0/1:37,36:67:-101.94,-20.21,-133.99:99 -chr1 4479593 rs12035830 G A 298.83 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=3.09;MQ=59.59;MQ0=0;OQ=906.38;QD=16.19;SB=-375.12 GT:AD:DP:GL:GQ 0/1:28,28:56:-110.79,-16.87,-99.66:99 -chr1 4479841 rs13375249 G C 20.65 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=3;HaplotypeScore=1.63;MQ=59.73;MQ0=0;OQ=1230.24;QD=17.57;SB=-290.56 GT:AD:DP:GL:GQ 0/1:33,37:66:-146.20,-19.90,-135.57:99 -chr1 4479995 rs13375764 T C 66.03 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=4.40;MQ=59.54;MQ0=0;OQ=574.33;QD=11.49;SB=-245.91 GT:AD:DP:GL:GQ 0/1:28,22:47:-74.88,-14.16,-104.49:99 -chr1 4480068 rs56226943 T C 40.29 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=4.82;MQ=59.62;MQ0=0;OQ=881.12;QD=14.44;SB=-433.94 GT:AD:DP:GL:GQ 0/1:29,32:60:-109.48,-18.08,-115.28:99 -chr1 4480417 . C T 49.35 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=55.69;MQ0=0;OQ=1159.90;QD=16.81;SB=-282.22 GT:AD:DP:GL:GQ 0/1:33,36:66:-139.16,-19.89,-99.45:99 -chr1 4480560 rs61765366 A G 285.70 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=56.94;MQ0=0;OQ=701.52;QD=11.89;SB=-268.60 GT:AD:DP:GL:GQ 0/1:29,30:57:-90.62,-17.18,-111.39:99 -chr1 4480691 rs61765367 A G 0.21 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=4.75;MQ=57.81;MQ0=0;OQ=122.26;QD=1.63;SB=-4.55 GT:AD:DP:GL:GQ 0/1:63,11:59:-33.30,-17.79,-184.25:99 -chr1 4480787 rs61765379 A G 0.06 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=7.68;MQ=56.41;MQ0=0;OQ=64.97;QD=0.82;SB=-50.25 GT:AD:DP:GL:GQ 0/1:64,12:67:-29.98,-20.20,-222.76:97.81 -chr1 4480849 rs549627 C T 251.36 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=2.29;MQ=56.04;MQ0=0;OQ=1162.07;QD=16.37;SB=-467.11 GT:AD:DP:GL:GQ 0/1:33,37:67:-139.69,-20.20,-99.87:99 -chr1 4480920 rs548786 G A 173 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.10;MQ=56.79;MQ0=1;OQ=670.11;QD=12.41;SB=-198.20 GT:AD:DP:GL:GQ 0/1:30,24:48:-84.77,-14.47,-84.01:99 -chr1 4481090 rs12039682 C T 474.84 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=58.78;MQ0=0;OQ=980.72;QD=14.21;SB=-480.03 GT:AD:DP:GL:GQ 0/1:39,30:68:-121.84,-20.48,-138.54:99 -chr1 4481198 rs12039710 C A 19.16 PASS AC=1;AF=0.50;AN=2;DB;DP=88;Dels=0.00;HRun=3;HaplotypeScore=2.99;MQ=59.79;MQ0=0;OQ=1468.40;QD=16.69;SB=-755.87 GT:AD:DP:GL:GQ 0/1:41,47:88:-176.63,-26.50,-144.72:99 -chr1 4481445 rs608203 T C 400.08 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.90;MQ=60.00;MQ0=0;OQ=763.64;QD=11.93;SB=-242.90 GT:AD:DP:GL:GQ 0/1:33,31:64:-98.94,-19.29,-134.86:99 -chr1 4481949 rs518456 T G 602.74 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.42;MQ0=0;OQ=1221.17;QD=15.26;SB=-525.73 GT:AD:DP:GL:GQ 0/1:37,43:77:-148.59,-23.19,-127.99:99 -chr1 4481956 rs57010025 C T 238.50 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.40;MQ0=0;OQ=1419.96;QD=18.44;SB=-598.08 GT:AD:DP:GL:GQ 0/1:35,42:76:-168.18,-22.90,-116.42:99 -chr1 4482059 rs10489135 T C 436.47 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.51;MQ0=0;OQ=1051.73;QD=13.84;SB=-549.55 GT:AD:DP:GL:GQ 0/1:39,37:73:-130.44,-21.99,-146.62:99 -chr1 4482139 rs57559146 A C 431.51 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.06;MQ0=0;OQ=970.54;QD=17.33;SB=-397.86 GT:AD:DP:GL:GQ 0/1:23,33:54:-116.60,-16.26,-81.57:99 -chr1 4482422 rs60071491 T C 92.13 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=2;HaplotypeScore=0.92;MQ=56.24;MQ0=0;OQ=1374.62;QD=16.76;SB=-668.88 GT:AD:DP:GL:GQ 0/1:37,45:82:-165.44,-24.69,-153.42:99 -chr1 4482693 rs4112336 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=102.81;MQ=56.77;MQ0=0;OQ=769.43;QD=9.27;SB=-197.80 GT:AD:DP:GL:GQ 0/1:55,28:82:-104.92,-24.70,-193.00:99 -chr1 4482708 . C A 39.18 Indel;LowQual AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=0;HaplotypeScore=48.79;MQ=55.68;MQ0=0;QD=0.43;SB=-10.83 GT:AD:DP:GL:GQ 0/1:82,10:90:-34.30,-27.10,-291.82:72.01 -chr1 4482756 rs1229150 T G 280.23 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=57.57;MQ0=0;OQ=1600.43;QD=18.83;SB=-735.72 GT:AD:DP:GL:GQ 0/1:32,53:82:-188.02,-24.70,-112.53:99 -chr1 4482784 rs1229151 A G 1304.96 Indel AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=53.27;MQ0=0;QD=17.88;SB=-660.04 GT:AD:DP:GL:GQ 0/1:30,43:72:-155.47,-21.69,-120.71:99 -chr1 4482854 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=68;Dels=0.00;HRun=0;HaplotypeScore=78.29;MQ=48.56;MQ0=0;OQ=195.41;QD=2.87;SB=-84.58 GT:AD:DP:GL:GQ 0/1:55,13:66:-42.70,-19.88,-199.63:99 -chr1 4482959 rs2097536 C T 73.43 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.49;MQ0=0;OQ=999.17;QD=22.20;SB=-274.28 GT:AD:DP:GL:GQ 0/1:16,29:44:-116.46,-13.25,-55.39:99 -chr1 4486372 rs12040164 C T 326.57 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=1.99;MQ=59.42;MQ0=0;OQ=1051.54;QD=14.60;SB=-388.33 GT:AD:DP:GL:GQ 0/1:40,32:72:-130.14,-21.70,-132.54:99 -chr1 4487829 rs241237 C T 194.54 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=59.46;MQ0=0;OQ=801.99;QD=18.65;SB=-287.22 GT:AD:DP:GL:GQ 0/1:18,25:42:-96.14,-12.66,-58.53:99 -chr1 4488590 . G A 17.21 PASS AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1047.83;QD=22.78;SB=-295.25 GT:AD:DP:GL:GQ 0/1:15,31:44:-121.33,-13.26,-41.74:99 -chr1 4489266 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=19.48;MQ=53.94;MQ0=1;OQ=546.80;QD=8.68;SB=-157.24 GT:AD:DP:GL:GQ 0/1:31,26:42:-73.40,-15.44,-84.22:99 -chr1 4489270 rs241234 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=25.61;MQ=53.85;MQ0=1;OQ=785.85;QD=12.28;SB=-389.60 GT:AD:DP:GL:GQ 0/1:33,31:57:-99.04,-17.17,-115.38:99 -chr1 4490410 rs241233 T C 169.60 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=1.70;MQ=59.74;MQ0=0;OQ=1074.01;QD=14.92;SB=-553.96 GT:AD:DP:GL:GQ 0/1:36,36:72:-132.37,-21.68,-149.45:99 -chr1 4490829 rs241232 G A 84.32 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=59.60;MQ0=0;OQ=913.96;QD=19.45;SB=-389.16 GT:AD:DP:GL:GQ 0/1:20,27:47:-108.84,-14.16,-68.00:99 -chr1 4492019 . C T 107.27 PASS AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=59.07;MQ0=0;OQ=862.99;QD=13.28;SB=-457.42 GT:AD:DP:GL:GQ 0/1:38,27:64:-108.86,-19.28,-134.13:99 -chr1 4492104 rs241229 G A 148.93 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.92;MQ=59.63;MQ0=0;OQ=584.46;QD=9.28;SB=-212.39 GT:AD:DP:GL:GQ 0/1:43,20:63:-80.71,-18.98,-155.69:99 -chr1 4494463 rs537398 T C 597.93 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=930.45;QD=15.51;SB=-426.29 GT:AD:DP:GL:GQ 0/1:29,31:60:-114.40,-18.07,-118.90:99 -chr1 4494858 rs34231005 T G 11.27 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=4;HaplotypeScore=0.14;MQ=59.76;MQ0=0;OQ=881.39;QD=11.30;SB=-322.46 GT:AD:DP:GL:GQ 0/1:45,33:76:-114.31,-22.89,-158.76:99 -chr1 4495171 rs509960 T C 253.48 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=2.40;MQ=60.00;MQ0=0;OQ=1172.46;QD=18.04;SB=-611.00 GT:AD:DP:GL:GQ 0/1:27,38:65:-140.10,-19.58,-110.54:99 -chr1 4495869 . C T 861.60 Indel AC=1;AF=0.50;AN=2;DP=74;Dels=0.04;HRun=1;HaplotypeScore=22.99;MQ=51.44;MQ0=0;QD=11.64;SB=-342.41 GT:AD:DP:GL:GQ 0/1:44,27:74:-110.83,-21.38,-161.62:99 -chr1 4495871 . C A 736.52 Indel AC=1;AF=0.50;AN=2;DP=74;Dels=0.04;HRun=0;HaplotypeScore=22.99;MQ=51.44;MQ0=0;QD=9.95;SB=-304.20 GT:AD:DP:GL:GQ 0/1:44,27:74:-98.32,-21.38,-161.31:99 -chr1 4496138 rs10915553 T C 458.40 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.54;MQ0=0;OQ=880.60;QD=11.90;SB=-349.17 GT:AD:DP:GL:GQ 0/1:42,32:72:-113.03,-21.69,-158.51:99 -chr1 4496148 rs10915554 G A 271.40 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=55.61;MQ0=0;OQ=1132.53;QD=15.10;SB=-504.97 GT:AD:DP:GL:GQ 0/1:40,35:73:-138.53,-22.00,-129.42:99 -chr1 4496394 rs12084169 C T 196.40 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=59.54;MQ0=0;OQ=1321.84;QD=16.12;SB=-685.73 GT:AD:DP:GL:GQ 0/1:41,41:80:-159.57,-24.10,-141.56:99 -chr1 4496424 rs12086217 A G 463.85 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.43;MQ0=0;OQ=859.99;QD=13.23;SB=-378.26 GT:AD:DP:GL:GQ 0/1:34,31:65:-108.86,-19.58,-137.17:99 -chr1 4496942 rs623217 G C 175.34 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.29;MQ=59.66;MQ0=0;OQ=1355.72;QD=19.94;SB=-471.80 GT:AD:DP:GL:GQ 0/1:31,37:66:-158.75,-19.89,-127.17:99 -chr1 4496949 rs472113 G A 230.42 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=59.66;MQ0=0;OQ=1272.49;QD=18.99;SB=-462.43 GT:AD:DP:GL:GQ 0/1:30,37:67:-150.71,-20.18,-109.30:99 -chr1 4497460 rs556890 A G 2.32 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=9.81;MQ=58.48;MQ0=0;OQ=661.76;QD=14.39;SB=-333.32 GT:AD:DP:GL:GQ 0/1:21,24:43:-82.42,-12.96,-78.26:99 -chr1 4497578 . G A 145.29 PASS AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.42;MQ=55.81;MQ0=2;OQ=939.73;QD=13.42;SB=-372.83 GT:AD:DP:GL:GQ 0/1:38,32:59:-115.04,-17.78,-100.90:99 -chr1 4497715 rs609304 T C 122.41 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=59.55;MQ0=0;OQ=597.13;QD=11.71;SB=-145.28 GT:AD:DP:GL:GQ 0/1:26,25:50:-78.07,-15.08,-99.80:99 -chr1 4497726 rs554335 A T 316.28 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=640.98;QD=12.57;SB=-272.29 GT:AD:DP:GL:GQ 0/1:29,22:51:-82.74,-15.36,-107.67:99 -chr1 4497802 rs16838465 A G 196.23 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=59.68;MQ0=0;OQ=953.26;QD=13.06;SB=-260.95 GT:AD:DP:GL:GQ 0/1:33,40:71:-120.01,-21.40,-135.23:99 -chr1 4497821 rs553435 A G 265.49 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=3.67;MQ=59.70;MQ0=0;OQ=1049.73;QD=13.63;SB=-281.63 GT:AD:DP:GL:GQ 0/1:34,43:75:-130.87,-22.61,-136.05:99 -chr1 4497861 rs608492 G C 466.90 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.05;MQ0=0;OQ=1478.41;QD=20.82;SB=-714.38 GT:AD:DP:GL:GQ 0/1:30,41:69:-171.91,-20.79,-131.74:99 -chr1 4497881 rs12726510 T C 431.64 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=56.08;MQ0=0;OQ=981.66;QD=11.69;SB=-387.89 GT:AD:DP:GL:GQ 0/1:41,43:78:-124.95,-23.50,-161.69:99 -chr1 4497887 rs12752601 C A 191.53 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=1.76;MQ=56.08;MQ0=0;OQ=1107.25;QD=13.18;SB=-552.73 GT:AD:DP:GL:GQ 0/1:44,40:81:-138.40,-24.39,-157.12:99 -chr1 4497950 rs12737521 G A 266.94 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=58.10;MQ0=0;OQ=874.33;QD=12.67;SB=-378.16 GT:AD:DP:GL:GQ 0/1:41,28:69:-111.51,-20.80,-136.23:99 -chr1 4498077 rs551359 A G 240.90 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=59.32;MQ0=0;OQ=1496.06;QD=16.81;SB=-547.59 GT:AD:DP:GL:GQ 0/1:39,50:88:-179.39,-26.50,-159.21:99 -chr1 4498168 rs495682 T C 312.82 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.73;MQ0=0;OQ=1219.53;QD=14.52;SB=-615.78 GT:AD:DP:GL:GQ 0/1:41,43:83:-150.24,-25.00,-166.52:99 -chr1 4498170 rs596848 G A 305.85 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.72;MQ0=0;OQ=1391.50;QD=16.77;SB=-693.72 GT:AD:DP:GL:GQ 0/1:40,43:81:-166.83,-24.40,-145.63:99 -chr1 4498284 rs596360 G A 603.53 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.72;MQ0=0;OQ=984.96;QD=14.92;SB=-509.05 GT:AD:DP:GL:GQ 0/1:36,30:66:-121.68,-19.90,-113.72:99 -chr1 4498314 rs494638 T C 459.72 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.34;MQ0=0;OQ=1145.34;QD=15.69;SB=-585.28 GT:AD:DP:GL:GQ 0/1:33,40:71:-139.20,-21.39,-128.86:99 -chr1 4498825 rs489371 A G 35.40 PASS AC=1;AF=0.50;AN=2;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=4.84;MQ=56.29;MQ0=0;OQ=1173.41;QD=12.62;SB=-564.58 GT:AD:DP:GL:GQ 0/1:51,42:90:-147.73,-27.11,-207.42:99 -chr1 4498854 rs489316 A G 383.07 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=53.44;MQ0=0;OQ=1022.72;QD=11.24;SB=-456.67 GT:AD:DP:GL:GQ 0/1:50,41:90:-132.68,-27.12,-202.80:99 -chr1 4499103 rs592726 C T 522.92 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.01;MQ0=0;OQ=1251.74;QD=14.06;SB=-614.59 GT:AD:DP:GL:GQ 0/1:50,39:87:-154.68,-26.22,-160.76:99 -chr1 4499256 rs6673713 A T 601.23 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.46;MQ0=0;OQ=969.14;QD=15.38;SB=-478.55 GT:AD:DP:GL:GQ 0/1:32,31:63:-119.17,-18.97,-123.21:99 -chr1 4499545 rs6677142 T C 474.20 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=56.97;MQ0=0;OQ=1056.33;QD=15.77;SB=-489.28 GT:AD:DP:GL:GQ 0/1:31,36:67:-129.10,-20.18,-124.32:99 -chr1 4499557 rs10158638 A G 600.71 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.01;MQ0=0;OQ=954.47;QD=14.46;SB=-498.28 GT:AD:DP:GL:GQ 0/1:33,33:66:-118.61,-19.88,-133.94:99 -chr1 4499695 rs28694108 C T 122.88 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=2.23;MQ=60.16;MQ0=0;OQ=1387.28;QD=20.11;SB=-460.49 GT:AD:DP:GL:GQ 0/1:27,42:67:-162.21,-20.20,-83.84:99 -chr1 4499852 rs569392 T C 181.23 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=1.97;MQ=59.40;MQ0=0;OQ=1301.88;QD=15.50;SB=-652.84 GT:AD:DP:GL:GQ 0/1:40,44:84:-158.78,-25.30,-162.80:99 -chr1 4499866 rs638811 G A 371.51 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=59.47;MQ0=0;OQ=1161.22;QD=14.70;SB=-516.05 GT:AD:DP:GL:GQ 0/1:40,38:72:-141.11,-21.71,-113.94:99 -chr1 4500093 rs627374 C A 201.56 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=3.04;MQ=56.24;MQ0=0;OQ=1409.06;QD=17.18;SB=-575.67 GT:AD:DP:GL:GQ 0/1:36,45:77:-170.76,-26.57,-102.66:99 -chr1 4500144 rs1612095 G C 191.96 PASS AC=1;AF=0.50;AN=2;DB;DP=98;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=58.14;MQ0=0;OQ=1652.98;QD=16.87;SB=-714.30 GT:AD:DP:GL:GQ 0/1:51,47:96:-197.51,-28.93,-219.71:99 -chr1 4500181 rs1612008 C T 343.92 PASS AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.55;MQ0=0;OQ=1543.90;QD=16.78;SB=-630.74 GT:AD:DP:GL:GQ 0/1:42,49:86:-183.59,-25.91,-132.31:99 -chr1 4500274 rs544513 A G 399.63 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=703.77;QD=11.00;SB=-261.96 GT:AD:DP:GL:GQ 0/1:33,31:62:-92.35,-18.69,-134.62:99 -chr1 4500351 rs543653 T G 570.98 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=699.52;QD=12.27;SB=-362.58 GT:AD:DP:GL:GQ 0/1:31,26:56:-90.10,-16.87,-111.77:99 -chr1 4500481 rs542688 C G 360.13 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=59.76;MQ0=0;OQ=1267.59;QD=16.05;SB=-449.73 GT:AD:DP:GL:GQ 0/1:41,38:77:-153.25,-23.20,-181.78:99 -chr1 4500512 rs625627 C T 286.16 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=3.37;MQ=59.08;MQ0=0;OQ=914.91;QD=12.89;SB=-281.75 GT:AD:DP:GL:GQ 0/1:39,32:67:-114.97,-20.19,-123.19:99 -chr1 4500529 rs541929 A G 325.19 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=2.04;MQ=59.16;MQ0=0;OQ=945.37;QD=12.28;SB=-290.30 GT:AD:DP:GL:GQ 0/1:42,34:76:-120.71,-22.89,-170.67:99 -chr1 4500606 rs10915556 C T 355.71 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1316.31;QD=19.65;SB=-489.56 GT:AD:DP:GL:GQ 0/1:29,38:66:-154.80,-19.88,-102.91:99 -chr1 4500644 rs2051642 G T 498.30 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1142.97;QD=16.33;SB=-501.30 GT:AD:DP:GL:GQ 0/1:32,38:70:-138.67,-21.09,-110.82:99 -chr1 4500677 rs2051641 C T 126.58 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=2.61;MQ=60.00;MQ0=0;OQ=1424.93;QD=18.04;SB=-396.12 GT:AD:DP:GL:GQ 0/1:37,42:79:-169.57,-23.79,-134.20:99 -chr1 4500995 rs694361 G A 987.12 Indel AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=10;HaplotypeScore=19.73;MQ=59.67;MQ0=0;QD=14.31;SB=-451.85 GT:AD:DP:GL:GQ 0/1:36,33:64:-121.28,-19.29,-109.34:99 -chr1 4501161 rs10915557 A C 322.35 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.59;MQ0=0;OQ=772.74;QD=13.80;SB=-198.82 GT:AD:DP:GL:GQ 0/1:27,28:54:-96.83,-16.27,-94.26:99 -chr1 4501182 rs10915558 G T 398.28 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=829.24;QD=13.16;SB=-280.30 GT:AD:DP:GL:GQ 0/1:32,31:61:-104.58,-18.38,-107.72:99 -chr1 4501418 rs988089 G T 231.64 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=59.83;MQ0=0;OQ=785.83;QD=14.29;SB=-379.13 GT:AD:DP:GL:GQ 0/1:28,27:55:-98.43,-16.57,-95.26:99 -chr1 4501445 rs988088 G A 287.91 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=59.35;MQ0=0;OQ=635.25;QD=14.77;SB=-270.30 GT:AD:DP:GL:GQ 0/1:21,22:39:-78.57,-11.76,-58.80:99 -chr1 4501584 rs1988134 A T 372.09 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.72;MQ0=0;OQ=1235.61;QD=14.89;SB=-511.29 GT:AD:DP:GL:GQ 0/1:43,40:83:-151.84,-25.00,-162.60:99 -chr1 4501936 rs508056 T C 0.28 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.01;HRun=1;HaplotypeScore=15.97;MQ=59.84;MQ0=0;OQ=1145.11;QD=15.07;SB=-479.27 GT:AD:DP:GL:GQ 0/1:36,39:76:-140.39,-22.59,-147.97:99 -chr1 4501948 rs594535 A T 38.55 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.01;HRun=0;HaplotypeScore=7.00;MQ=59.51;MQ0=0;OQ=1283.54;QD=17.83;SB=-623.13 GT:AD:DP:GL:GQ 0/1:31,40:72:-153.02,-21.38,-116.42:99 -chr1 4502177 rs640624 T C 14.98 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=7.76;MQ=59.57;MQ0=0;OQ=1108.01;QD=16.29;SB=-573.02 GT:AD:DP:GL:GQ 0/1:30,38:66:-133.97,-19.88,-116.04:99 -chr1 4502677 . A G 145.65 PASS AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.30;MQ0=0;OQ=805.91;QD=12.21;SB=-395.14 GT:AD:DP:GL:GQ 0/1:37,29:66:-103.76,-19.88,-150.61:99 -chr1 4502871 rs2411775 C T 188.48 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.39;MQ0=0;OQ=1230.48;QD=17.83;SB=-330.32 GT:AD:DP:GL:GQ 0/1:32,36:67:-146.52,-20.19,-100.70:99 -chr1 4503184 rs694935 T A 28.68 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=3;HaplotypeScore=2.73;MQ=59.33;MQ0=0;OQ=840.35;QD=13.55;SB=-222.90 GT:AD:DP:GL:GQ 0/1:31,31:58:-104.80,-17.48,-105.42:99 -chr1 4503230 rs694967 T G 352.39 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=57.78;MQ0=0;OQ=1098.27;QD=15.25;SB=-535.44 GT:AD:DP:GL:GQ 0/1:33,39:72:-134.80,-21.69,-119.88:99 -chr1 4503601 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=120;Dels=0.00;HRun=1;HaplotypeScore=106.52;MQ=39.06;MQ0=0;OQ=897.90;QD=7.48;SB=-269.21 GT:AD:DP:GL:GQ 0/1:86,34:118:-128.61,-35.54,-314.22:99 -chr1 4503616 . T C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=137;Dels=0.00;HRun=1;HaplotypeScore=12.83;MQ=37.47;MQ0=0;OQ=467.51;QD=3.41;SB=-122.22 GT:AD:DP:GL:GQ 0/1:111,26:134:-90.40,-40.36,-439.82:99 -chr1 4503623 rs241214 C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=148;Dels=0.00;HRun=0;HaplotypeScore=94.05;MQ=37.91;MQ0=0;OQ=4273.01;QD=28.87;SB=-1538.72 GT:AD:DP:GL:GQ 0/1:32,114:147:-426.30,-51.49,-123.04:99 -chr1 4503639 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=159;Dels=0.00;HRun=0;HaplotypeScore=260.99;MQ=37.36;MQ0=0;OQ=1166.38;QD=7.34;SB=-484.60 GT:AD:DP:GL:GQ 0/1:114,44:124:-157.27,-37.35,-295.16:99 -chr1 4503657 rs12754029 A C 1394.26 DPFilter;Indel AC=1;AF=0.50;AN=2;DB;DP=153;Dels=0.00;HRun=1;HaplotypeScore=166.14;MQ=39.29;MQ0=0;QD=9.11;SB=-599.12 GT:AD:DP:GL:GQ 0/1:73,77:122:-190.87,-48.16,-269.49:99 -chr1 4503674 rs61111938 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=147;Dels=0.00;HRun=0;HaplotypeScore=137.11;MQ=42.18;MQ0=0;OQ=392.40;QD=2.67;SB=-58.59 GT:AD:DP:GL:GQ 0/1:124,23:123:-79.58,-37.06,-405.54:99 -chr1 4503686 rs61202630 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=124;Dels=0.03;HRun=0;HaplotypeScore=163.66;MQ=45.68;MQ0=0;OQ=981.22;QD=7.91;SB=-498.66 GT:AD:DP:GL:GQ 0/1:79,40:116:-138.71,-37.31,-281.28:99 -chr1 4503715 . T C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=16.61;MQ=53.48;MQ0=0;OQ=158.20;QD=1.86;SB=-90.66 GT:AD:DP:GL:GQ 0/1:72,13:84:-44.41,-25.30,-293.89:99 -chr1 4503964 rs241215 T A 444.25 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=54.88;MQ0=0;OQ=1312.48;QD=17.50;SB=-618.08 GT:AD:DP:GL:GQ 0/1:34,41:75:-157.12,-22.59,-129.67:99 -chr1 4504029 rs241216 G A 155.80 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=4.03;MQ=59.43;MQ0=0;OQ=1251.65;QD=17.15;SB=-469.46 GT:AD:DP:GL:GQ 0/1:35,38:70:-149.55,-21.10,-107.16:99 -chr1 4504349 rs241217 C G 275.14 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=1603.60;QD=22.59;SB=-778.42 GT:AD:DP:GL:GQ 0/1:29,42:71:-185.04,-21.39,-125.25:99 -chr1 4505282 rs241218 T C 43.78 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=7.22;MQ=59.15;MQ0=0;OQ=812.13;QD=11.44;SB=-395.26 GT:AD:DP:GL:GQ 0/1:37,34:67:-104.70,-20.20,-130.72:99 -chr1 4506052 rs241219 T C 334.21 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=2.94;MQ=59.17;MQ0=0;OQ=741.75;QD=13.25;SB=-389.65 GT:AD:DP:GL:GQ 0/1:27,29:55:-94.04,-16.58,-103.55:99 -chr1 4508064 rs241220 G A 334 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=60.00;MQ0=0;OQ=1163.49;QD=17.37;SB=-431.97 GT:AD:DP:GL:GQ 0/1:32,35:66:-139.53,-19.90,-98.33:99 -chr1 4508910 rs241221 T C 373.72 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=59.20;MQ0=0;OQ=874.89;QD=15.08;SB=-418.55 GT:AD:DP:GL:GQ 0/1:25,33:55:-107.34,-16.57,-97.13:99 -chr1 4509116 rs241222 G C 267.87 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=3.24;MQ=59.18;MQ0=0;OQ=1337.43;QD=18.07;SB=-676.08 GT:AD:DP:GL:GQ 0/1:37,37:72:-158.72,-21.69,-154.68:99 -chr1 4510110 rs241244 A T 180.09 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=2.78;MQ=60.38;MQ0=0;OQ=930.99;QD=16.33;SB=-387.46 GT:AD:DP:GL:GQ 0/1:27,30:57:-113.55,-17.17,-101.72:99 -chr1 4510493 rs241245 T C 361.78 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.12;MQ=60.00;MQ0=0;OQ=851.20;QD=14.43;SB=-421.93 GT:AD:DP:GL:GQ 0/1:29,30:57:-105.58,-17.17,-107.45:99 -chr1 4510920 rs241246 T C 463.10 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.63;MQ0=0;OQ=864.46;QD=13.94;SB=-382.19 GT:AD:DP:GL:GQ 0/1:32,30:62:-108.40,-18.67,-129.80:99 -chr1 4510938 rs241247 G T 223.55 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=4.47;MQ=59.71;MQ0=0;OQ=1111.82;QD=14.07;SB=-561.61 GT:AD:DP:GL:GQ 0/1:42,37:78:-137.96,-23.49,-147.67:99 -chr1 4511101 rs241248 G A 90.66 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=4.65;MQ=58.90;MQ0=0;OQ=1137.70;QD=15.80;SB=-412.89 GT:AD:DP:GL:GQ 0/1:38,34:72:-138.74,-21.69,-139.14:99 -chr1 4512226 rs241249 C A 118.09 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.69;MQ0=0;OQ=2704.76;QD=36.06;SB=-1203.75 GT:AD:DP:GL:GQ 1/1:0,75:73:-274.08,-21.98,-0.01:99 -chr1 4512612 rs12117466 C T 434.32 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.75;MQ0=0;OQ=1595.86;QD=21.57;SB=-705.78 GT:AD:DP:GL:GQ 0/1:28,46:74:-185.16,-22.29,-104.90:99 -chr1 4512789 rs2222050 C G 399.97 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=51.66;MQ0=0;OQ=560.26;QD=12.18;SB=-284.90 GT:AD:DP:GL:GQ 0/1:29,17:46:-73.17,-13.86,-129.73:99 -chr1 4512997 . G C 109.15 PASS AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.26;MQ0=0;OQ=1039.37;QD=14.64;SB=-540.64 GT:AD:DP:GL:GQ 0/1:41,30:70:-128.31,-21.09,-176.73:99 -chr1 4513093 rs241250 C T 592.78 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.64;MQ0=0;OQ=2215.68;QD=40.29;SB=-1120.49 GT:AD:DP:GL:GQ 1/1:0,55:55:-225.17,-16.57,-0.01:99 -chr1 4513279 rs241251 T C 191.39 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=3.46;MQ=56.17;MQ0=0;OQ=859.05;QD=12.10;SB=-428.93 GT:AD:DP:GL:GQ 0/1:40,31:71:-110.57,-21.39,-162.21:99 -chr1 4513371 rs241252 G A 678.22 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2454.05;QD=39.58;SB=-997.85 GT:AD:DP:GL:GQ 1/1:0,61:61:-249.00,-18.37,-0.01:99 -chr1 4513556 rs56948682 G C 523.60 Indel AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=3.31;MQ=55.31;MQ0=0;QD=11.90;SB=-218.66 GT:AD:DP:GL:GQ 0/1:25,19:40:-67.72,-12.07,-92.30:99 -chr1 4513868 rs241254 G A 271.50 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=58.71;MQ0=0;OQ=649.43;QD=12.03;SB=-239.26 GT:AD:DP:GL:GQ 0/1:28,25:50:-83.30,-15.07,-98.60:99 -chr1 4513881 rs241255 G C 176.18 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=58.80;MQ0=0;OQ=2370.20;QD=40.87;SB=-1167.06 GT:AD:DP:GL:GQ 1/1:0,58:55:-240.62,-16.57,-0.01:99 -chr1 4514372 rs241256 C T 582.40 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.73;MQ0=0;OQ=913.61;QD=13.44;SB=-345.84 GT:AD:DP:GL:GQ 0/1:39,29:68:-115.13,-20.48,-142.92:99 -chr1 4514476 rs6426419 T A 347.17 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.60;MQ0=0;OQ=541.18;QD=9.33;SB=-252.68 GT:AD:DP:GL:GQ 0/1:37,21:57:-74.57,-17.17,-137.52:99 -chr1 4514682 rs241257 C T 286.90 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=-0.06;MQ=60.00;MQ0=0;OQ=2358.24;QD=39.97;SB=-1174.07 GT:AD:DP:GL:GQ 1/1:0,59:59:-239.42,-17.77,-0.01:99 -chr1 4514873 rs171319 C T 380.27 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=59.42;MQ0=0;OQ=1086.37;QD=13.58;SB=-534.53 GT:AD:DP:GL:GQ 0/1:46,34:78:-135.44,-23.52,-140.72:99 -chr1 4515369 rs241258 G A 48.68 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=2.13;MQ=47.21;MQ0=0;OQ=749.09;QD=17.42;SB=-181.27 GT:AD:DP:GL:GQ 0/1:20,23:42:-90.85,-12.66,-63.49:99 -chr1 4515444 rs241259 C G 22.32 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=50.43;MQ0=0;OQ=2118.85;QD=40.75;SB=-972.73 GT:AD:DP:GL:GQ 1/1:0,52:49:-215.48,-14.76,-0.01:99 -chr1 4515588 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=15;HaplotypeScore=4.97;MQ=51.27;MQ0=0;OQ=250.35;QD=4.47;SB=56.21 GT:AD:DP:GL:GQ 0/1:42,14:49:-43.09,-14.77,-129.95:99 -chr1 4515926 rs241260 C G 33.59 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=2;HaplotypeScore=2.19;MQ=55.21;MQ0=0;OQ=3292.12;QD=42.21;SB=-1616.25 GT:AD:DP:GL:GQ 1/1:0,78:75:-328.21,-22.60,-0.02:99 -chr1 4515962 rs241261 T C 602.08 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.64;MQ0=0;OQ=2469.23;QD=29.75;SB=-1091.36 GT:AD:DP:GL:GQ 1/1:0,83:79:-250.58,-23.83,-0.08:99 -chr1 4516659 rs241262 T G 634.51 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2557.93;QD=35.53;SB=-1149.62 GT:AD:DP:GL:GQ 1/1:0,72:72:-259.40,-21.69,-0.02:99 -chr1 4517716 rs10799244 T C 405.95 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.15;MQ0=0;OQ=1346.22;QD=18.96;SB=-628.34 GT:AD:DP:GL:GQ 0/1:27,44:70:-158.99,-21.09,-107.87:99 -chr1 4518111 rs6685798 G A 309.27 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=59.32;MQ0=0;OQ=1238.56;QD=18.21;SB=-627.62 GT:AD:DP:GL:GQ 0/1:30,37:65:-146.72,-19.58,-98.24:99 -chr1 4518139 rs916408 T C 232.25 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.86;MQ=59.63;MQ0=0;OQ=609.90;QD=9.84;SB=-241.88 GT:AD:DP:GL:GQ 0/1:34,28:60:-82.36,-18.09,-138.61:99 -chr1 4518389 rs916407 C A 294.22 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=58.44;MQ0=0;OQ=593.42;QD=10.99;SB=-258.24 GT:AD:DP:GL:GQ 0/1:32,22:53:-78.59,-15.97,-110.59:99 -chr1 4518393 rs916406 T C 102.38 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=58.50;MQ0=0;OQ=426.60;QD=7.62;SB=-216.22 GT:AD:DP:GL:GQ 0/1:34,22:50:-61.02,-15.07,-122.30:99 -chr1 4518582 rs241263 T C 395.70 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2663.66;QD=36.49;SB=-1355.60 GT:AD:DP:GL:GQ 1/1:0,73:73:-269.97,-21.98,-0.02:99 -chr1 4518898 rs241264 C T 593.29 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.77;MQ0=0;OQ=3315.63;QD=40.93;SB=-1267.69 GT:AD:DP:GL:GQ 1/1:0,81:81:-330.56,-24.40,-0.02:99 -chr1 4519253 rs241265 G T 396.78 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=442.53;QD=9.42;SB=-108.63 GT:AD:DP:GL:GQ 0/1:30,17:47:-61.69,-14.15,-109.08:99 -chr1 4520150 rs241266 G A 572.22 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=1309.70;QD=16.79;SB=-634.24 GT:AD:DP:GL:GQ 0/1:38,40:77:-157.45,-23.20,-135.23:99 -chr1 4520783 rs10915560 T C 479.08 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.69;MQ0=0;OQ=617.89;QD=10.13;SB=-279.12 GT:AD:DP:GL:GQ 0/1:36,25:60:-83.15,-18.08,-142.30:99 -chr1 4520856 rs12120353 C A 156.50 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=694.57;QD=12.19;SB=-303.22 GT:AD:DP:GL:GQ 0/1:32,25:54:-89.01,-16.27,-103.65:99 -chr1 4521323 rs241267 C T 378.46 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=59.60;MQ0=0;OQ=620.84;QD=13.21;SB=-243.25 GT:AD:DP:GL:GQ 0/1:25,22:45:-78.94,-13.58,-74.16:99 -chr1 4521646 rs12748186 C T 419.48 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.64;MQ0=0;OQ=983.89;QD=18.92;SB=-364.52 GT:AD:DP:GL:GQ 0/1:23,29:52:-117.34,-15.67,-75.86:99 -chr1 4522500 rs241268 A G 490.54 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1548.29;QD=30.97;SB=-704.61 GT:AD:DP:GL:GQ 1/1:0,50:49:-158.46,-14.78,-0.04:99 -chr1 4523101 . G T 20.08 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=16;HaplotypeScore=10.17;MQ=50.32;MQ0=0;QD=0.35;SB=50.87 GT:AD:DP:GL:GQ 0/1:48,10:42:-17.95,-12.66,-121.78:52.87 -chr1 4523283 rs241269 C T 335.48 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=60.00;MQ0=0;OQ=806.86;QD=12.81;SB=-308.31 GT:AD:DP:GL:GQ 0/1:36,27:61:-102.37,-18.40,-111.88:99 -chr1 4523749 rs55956326 C T 46.96 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=60.00;MQ0=0;OQ=776.69;QD=17.65;SB=-140.14 GT:AD:DP:GL:GQ 0/1:21,23:44:-94.21,-13.26,-66.49:99 -chr1 4524365 rs497517 C A 203.92 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.25;MQ=57.23;MQ0=0;OQ=2311.84;QD=35.57;SB=-943.65 GT:AD:DP:GL:GQ 1/1:0,65:64:-234.79,-19.27,-0.02:99 -chr1 4524639 rs190250 T C 96.54 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=54.62;MQ0=1;OQ=1410.76;QD=28.22;SB=-520.24 GT:AD:DP:GL:GQ 1/1:1,49:43:-144.69,-12.96,-0.03:99 -chr1 4525049 rs241270 T A 128.22 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=57.31;MQ0=0;OQ=2756.56;QD=35.80;SB=-964.62 GT:AD:DP:GL:GQ 1/1:0,76:75:-279.26,-22.59,-0.02:99 -chr1 4525775 . C T 82.15 PASS AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=60.00;MQ0=0;OQ=631.76;QD=12.39;SB=-287.21 GT:AD:DP:GL:GQ 0/1:28,23:47:-80.62,-14.16,-88.43:99 -chr1 4526115 rs241271 T C 508.56 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=1796.29;QD=29.45;SB=-877.68 GT:AD:DP:GL:GQ 1/1:0,61:57:-183.26,-17.19,-0.05:99 -chr1 4526127 rs241272 T G 620.21 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.35;MQ0=0;OQ=2425.30;QD=34.16;SB=-1142.12 GT:AD:DP:GL:GQ 1/1:0,71:70:-246.14,-21.08,-0.02:99 -chr1 4526146 rs1515670 A G 180.27 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=58.96;MQ0=0;OQ=860.15;QD=12.84;SB=-436.91 GT:AD:DP:GL:GQ 0/1:37,30:66:-109.18,-19.88,-145.10:99 -chr1 4526937 rs241273 A C 421.62 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=60.00;MQ0=0;OQ=1105.42;QD=16.02;SB=-515.69 GT:AD:DP:GL:GQ 0/1:31,38:69:-134.61,-20.78,-114.90:99 -chr1 4527342 rs241274 A C 51.54 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.25;MQ0=0;OQ=1996.50;QD=32.20;SB=-821.03 GT:AD:DP:GL:GQ 1/1:0,62:58:-203.26,-17.47,-0.02:99 -chr1 4527839 rs241275 A G 555.63 PASS AC=2;AF=1.00;AN=2;DB;DP=88;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.03;MQ0=0;OQ=2594.28;QD=29.48;SB=-1228.48 GT:AD:DP:GL:GQ 1/1:0,88:82:-263.09,-24.73,-0.08:99 -chr1 4528191 rs28665533 G A 434.73 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.69;MQ0=0;OQ=1407.19;QD=19.02;SB=-661.67 GT:AD:DP:GL:GQ 0/1:32,42:74:-166.29,-22.29,-115.61:99 -chr1 4528559 rs241276 C T 153.75 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=4.22;MQ=59.30;MQ0=0;OQ=909.72;QD=13.78;SB=-324.82 GT:AD:DP:GL:GQ 0/1:37,29:65:-113.86,-19.61,-110.36:99 -chr1 4529046 rs241277 A C 117.60 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=2.18;MQ=60.00;MQ0=0;OQ=2433.72;QD=33.34;SB=-1159.13 GT:AD:DP:GL:GQ 1/1:0,73:69:-246.98,-20.78,-0.02:99 -chr1 4529268 rs241278 T C 273.02 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.43;MQ=59.61;MQ0=0;OQ=2074.79;QD=35.17;SB=-848.12 GT:AD:DP:GL:GQ 1/1:0,59:58:-211.08,-17.47,-0.02:99 -chr1 4530244 rs7531281 A C 607.97 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2071.97;QD=33.42;SB=-943.11 GT:AD:DP:GL:GQ 1/1:0,62:60:-210.80,-18.07,-0.02:99 -chr1 4530343 rs7526879 C T 127.03 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=0.89;MQ=59.29;MQ0=0;OQ=2841.32;QD=39.46;SB=-1410.68 GT:AD:DP:GL:GQ 1/1:0,72:71:-287.74,-21.39,-0.02:99 -chr1 4531126 rs241212 G T 328.23 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=59.37;MQ0=0;OQ=847.33;QD=14.36;SB=-341.38 GT:AD:DP:GL:GQ 0/1:30,29:58:-105.49,-17.47,-104.18:99 -chr1 4531264 rs55850443 C A 105.26 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=3.29;MQ=59.66;MQ0=0;OQ=907.20;QD=13.54;SB=-364.99 GT:AD:DP:GL:GQ 0/1:34,33:65:-113.58,-19.58,-115.11:99 -chr1 4532420 rs980092 A G 568.56 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.63;MQ0=0;OQ=2136.98;QD=31.43;SB=-1016.73 GT:AD:DP:GL:GQ 1/1:0,68:67:-217.34,-20.21,-0.06:99 -chr1 4532678 rs34339970 T C 238.67 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.12;MQ=59.68;MQ0=0;OQ=686.96;QD=9.41;SB=-234.24 GT:AD:DP:GL:GQ 0/1:42,31:70:-93.08,-21.10,-159.73:99 -chr1 4532688 rs171317 C A 295.77 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.69;MQ0=0;OQ=2546.98;QD=34.42;SB=-1274.23 GT:AD:DP:GL:GQ 1/1:0,74:71:-258.31,-21.38,-0.02:99 -chr1 4532830 rs35748829 C T 224.19 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.37;MQ0=0;OQ=1280.71;QD=19.40;SB=-516.15 GT:AD:DP:GL:GQ 0/1:29,37:64:-150.64,-19.29,-86.56:99 -chr1 4532839 rs35106071 C T 30.34 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=3;HaplotypeScore=0.47;MQ=59.31;MQ0=0;OQ=1092.68;QD=17.91;SB=-426.77 GT:AD:DP:GL:GQ 0/1:29,32:61:-130.92,-18.37,-105.58:99 -chr1 4533414 rs6673089 G A 59.57 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=5.78;MQ=59.66;MQ0=0;OQ=1175.25;QD=17.54;SB=-391.70 GT:AD:DP:GL:GQ 0/1:31,35:66:-140.69,-19.88,-114.80:99 -chr1 4533499 rs6426421 C T 279.59 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=56.21;MQ0=0;OQ=3052.51;QD=38.64;SB=-1294.73 GT:AD:DP:GL:GQ 1/1:0,79:78:-308.86,-23.50,-0.03:99 -chr1 4533545 rs7527742 G A 582.48 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.29;MQ0=0;OQ=1245.18;QD=15.19;SB=-388.08 GT:AD:DP:GL:GQ 0/1:45,37:81:-152.20,-24.40,-157.64:99 -chr1 4533745 rs241208 T C 151.85 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=58.23;MQ0=0;OQ=641.89;QD=11.07;SB=-289.57 GT:AD:DP:GL:GQ 0/1:35,23:57:-84.64,-17.17,-139.99:99 -chr1 4533782 rs17344823 A T 343.49 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=50.31;MQ0=0;OQ=1106.34;QD=17.56;SB=-567.72 GT:AD:DP:GL:GQ 0/1:26,37:60:-131.99,-18.07,-92.40:99 -chr1 4533944 rs241207 T G 366.15 PASS AC=2;AF=1.00;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.27;MQ0=0;OQ=1080.62;QD=29.21;SB=-322.00 GT:AD:DP:GL:GQ 1/1:0,37:32:-111.66,-9.64,-0.02:96.25 -chr1 4534250 rs11584033 T C 380.79 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=58.88;MQ0=0;OQ=947.57;QD=16.34;SB=-494.15 GT:AD:DP:GL:GQ 0/1:26,32:58:-115.51,-17.47,-106.56:99 -chr1 4534838 rs1541318 A G 459.08 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1096.76;QD=16.87;SB=-540.58 GT:AD:DP:GL:GQ 0/1:28,37:65:-132.54,-19.58,-112.37:99 -chr1 4535109 rs2411777 C T 151.18 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=59.69;MQ0=0;OQ=1491.80;QD=20.16;SB=-710.25 GT:AD:DP:GL:GQ 0/1:30,44:73:-174.45,-21.99,-106.04:99 -chr1 4536054 rs10799246 T A 279.36 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=56.28;MQ0=1;OQ=1123.37;QD=19.37;SB=-579.73 GT:AD:DP:GL:GQ 0/1:23,35:56:-132.49,-16.87,-78.58:99 -chr1 4536627 rs1157688 T C 729.05 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2286.18;QD=34.64;SB=-1059.42 GT:AD:DP:GL:GQ 1/1:1,65:64:-232.22,-19.28,-0.02:99 -chr1 4537253 rs12746043 A G 196.32 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.75;MQ=59.75;MQ0=0;OQ=742.34;QD=10.03;SB=-306.91 GT:AD:DP:GL:GQ 0/1:43,31:74:-99.82,-22.30,-175.74:99 -chr1 4537334 rs12073968 A T 357.38 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=1269.08;QD=15.67;SB=-567.67 GT:AD:DP:GL:GQ 0/1:40,41:80:-154.29,-24.09,-150.38:99 -chr1 4537921 rs12724503 G A 310.14 PASS AC=1;AF=0.50;AN=2;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=1.26;MQ=60.00;MQ0=0;OQ=1523.81;QD=15.09;SB=-617.07 GT:AD:DP:GL:GQ 0/1:55,46:100:-185.79,-30.12,-188.53:99 -chr1 4538097 rs4654561 G A 508.13 PASS AC=2;AF=1.00;AN=2;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.71;MQ0=0;OQ=3756.30;QD=39.96;SB=-1777.79 GT:AD:DP:GL:GQ 1/1:0,92:93:-374.63,-34.91,-7.66:99 -chr1 4538181 rs4654562 G A 215.56 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=59.13;MQ0=0;OQ=1260.80;QD=15.19;SB=-602.60 GT:AD:DP:GL:GQ 0/1:45,38:82:-154.08,-24.71,-143.05:99 -chr1 4538603 rs4654563 G A 371.27 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=1202.15;QD=16.03;SB=-528.76 GT:AD:DP:GL:GQ 0/1:39,36:74:-145.80,-22.30,-125.85:99 -chr1 4538973 rs7543382 T C 333.40 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.09;MQ=59.17;MQ0=0;OQ=1070.40;QD=14.66;SB=-356.54 GT:AD:DP:GL:GQ 0/1:37,36:73:-132.31,-21.99,-147.75:99 -chr1 4539030 rs7540656 A G 325.75 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.39;MQ0=0;OQ=796.84;QD=11.72;SB=-299.04 GT:AD:DP:GL:GQ 0/1:36,32:68:-103.46,-20.49,-144.09:99 -chr1 4540675 rs1963269 C G 227.56 PASS AC=1;AF=0.50;AN=2;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=59.54;MQ0=0;OQ=1695.02;QD=16.62;SB=-763.36 GT:AD:DP:GL:GQ 0/1:55,47:97:-202.01,-29.22,-223.35:99 -chr1 4540762 rs1024139 T C 542 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.15;MQ0=0;OQ=842.09;QD=11.70;SB=-437.91 GT:AD:DP:GL:GQ 0/1:42,30:72:-109.18,-21.69,-170.21:99 -chr1 4541602 rs241225 G A 260.13 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=59.63;MQ0=0;OQ=2333.57;QD=37.04;SB=-1016.38 GT:AD:DP:GL:GQ 1/1:0,63:59:-236.96,-17.77,-0.01:99 -chr1 4541659 rs241224 G T 284.32 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.28;MQ0=0;OQ=2085.58;QD=35.96;SB=-859.24 GT:AD:DP:GL:GQ 1/1:0,58:57:-212.16,-17.17,-0.02:99 -chr1 4541986 rs61765446 G A 358.57 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=942.30;QD=14.28;SB=-483.10 GT:AD:DP:GL:GQ 0/1:37,29:65:-117.11,-19.59,-114.27:99 -chr1 4542017 rs241223 C T 513.72 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2827.32;QD=39.82;SB=-1402.70 GT:AD:DP:GL:GQ 1/1:0,71:71:-286.34,-21.39,-0.02:99 -chr1 4542337 rs184781 C T 269.78 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.81;MQ0=0;OQ=2680.27;QD=40.00;SB=-1072.41 GT:AD:DP:GL:GQ 1/1:0,67:66:-271.63,-19.88,-0.01:99 -chr1 4542995 . A T 0.76 PASS AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=53.06;MQ0=0;OQ=196.97;QD=3.28;SB=-90.71 GT:AD:DP:GL:GQ 0/1:48,11:53:-38.95,-15.97,-156.27:99 -chr1 4543292 rs2078573 A C 86.48 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=6.05;MQ=56.75;MQ0=0;OQ=1341.41;QD=16.77;SB=-537.82 GT:AD:DP:GL:GQ 0/1:31,48:77:-160.62,-23.19,-115.03:99 -chr1 4543548 rs515279 T C 17.62 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.93;MQ=59.29;MQ0=0;OQ=1923.64;QD=29.59;SB=-45.69 GT:AD:DP:GL:GQ 1/1:0,65:64:-196.03,-19.32,-0.08:99 -chr1 4543717 rs587108 T G 137.04 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.89;MQ0=0;OQ=716.08;QD=34.10;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,21:21:-75.20,-6.33,-0.01:63.19 -chr1 4543945 rs588347 C T 45.56 PASS AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=256.94;QD=10.71;SB=-10.00 GT:AD:DP:GL:GQ 0/1:15,9:24:-36.21,-7.23,-52.03:99 -chr1 4544067 rs588861 G A 43.71 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=54.12;MQ0=0;OQ=1783.57;QD=37.95;SB=-560.73 GT:AD:DP:GL:GQ 1/1:0,47:45:-181.96,-13.56,-0.01:99 -chr1 4544173 rs488684 T A 310.68 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=57.99;MQ0=0;OQ=2644.21;QD=36.73;SB=-1277.61 GT:AD:DP:GL:GQ 1/1:0,72:70:-268.02,-21.08,-0.01:99 -chr1 4545564 rs616180 T G 115.98 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=0.33;MQ=58.74;MQ0=0;OQ=2469.47;QD=35.28;SB=-1055.12 GT:AD:DP:GL:GQ 1/1:0,70:69:-250.55,-20.78,-0.02:99 -chr1 4545738 rs617046 T C 49.62 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=60.00;MQ0=0;OQ=1303.79;QD=31.80;SB=-288.55 GT:AD:DP:GL:GQ 1/1:0,41:40:-133.99,-12.05,-0.02:99 -chr1 4545788 rs57374319 C T 229.72 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.48;MQ0=0;OQ=594.52;QD=13.51;SB=-275.28 GT:AD:DP:GL:GQ 0/1:24,20:43:-75.69,-12.95,-87.49:99 -chr1 4545807 rs563158 G C 408.48 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.65;MQ0=0;OQ=2250.93;QD=42.47;SB=-845.32 GT:AD:DP:GL:GQ 1/1:0,53:52:-228.70,-15.67,-0.02:99 -chr1 4545915 rs617610 A G 103.88 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=58.73;MQ0=0;OQ=1514.17;QD=27.53;SB=-766.72 GT:AD:DP:GL:GQ 1/1:0,55:49:-155.05,-14.78,-0.05:99 -chr1 4545933 rs561468 C A 155.56 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.22;MQ0=0;OQ=1902.16;QD=32.24;SB=-898.65 GT:AD:DP:GL:GQ 1/1:0,59:54:-193.82,-16.27,-0.02:99 -chr1 4546125 rs538655 G A 601.67 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.21;MQ0=0;OQ=2022.14;QD=38.15;SB=-935.74 GT:AD:DP:GL:GQ 1/1:0,53:52:-205.82,-15.67,-0.02:99 -chr1 4546239 rs619364 G A 445.90 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=837.24;QD=13.95;SB=-392.12 GT:AD:DP:GL:GQ 0/1:34,26:60:-105.08,-18.07,-121.77:99 -chr1 4546345 rs536749 A G 482 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.69;MQ0=0;OQ=1853.11;QD=30.38;SB=-858.57 GT:AD:DP:GL:GQ 1/1:0,61:58:-188.95,-17.49,-0.05:99 -chr1 4546432 rs4654446 C T 238.01 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=2.88;MQ=59.28;MQ0=0;OQ=947.38;QD=16.33;SB=-474.49 GT:AD:DP:GL:GQ 0/1:28,30:56:-114.89,-16.87,-97.02:99 -chr1 4546657 rs562787 A G 229.14 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.76;MQ0=0;OQ=1701.20;QD=30.38;SB=-810.66 GT:AD:DP:GL:GQ 1/1:0,56:54:-173.76,-16.29,-0.05:99 -chr1 4546823 rs532259 C T 169.24 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.40;MQ0=0;OQ=2521.38;QD=40.67;SB=-1140.51 GT:AD:DP:GL:GQ 1/1:0,62:62:-255.74,-18.67,-0.01:99 -chr1 4547018 rs559200 G C 1813.47 Indel AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.18;MQ0=0;QD=40.30;SB=-734.75 GT:AD:DP:GL:GQ 1/1:0,44:43:-184.95,-12.96,-0.01:99 -chr1 4547035 rs6691728 C T 1783.47 Indel AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=57.64;MQ0=0;QD=39.63;SB=-856.02 GT:AD:DP:GL:GQ 1/1:0,45:45:-181.94,-13.55,-0.01:99 -chr1 4547069 rs558411 G C 0.77 PASS AC=2;AF=1.00;AN=2;DB;DP=39;Dels=0.00;HRun=4;HaplotypeScore=0.63;MQ=58.20;MQ0=0;OQ=1617.71;QD=41.48;SB=-687.82 GT:AD:DP:GL:GQ 1/1:0,39:38:-165.37,-11.45,-0.01:99 -chr1 4547307 rs634075 C T 118.64 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=59.44;MQ0=0;OQ=1786.25;QD=34.35;SB=-705.43 GT:AD:DP:GL:GQ 1/1:0,51:47:-182.23,-14.17,-0.02:99 -chr1 4547329 rs644647 C A 608.94 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.55;MQ0=0;OQ=1779.42;QD=34.89;SB=-902.65 GT:AD:DP:GL:GQ 1/1:0,51:50:-181.54,-15.06,-0.02:99 -chr1 4547506 rs2674014 C T 604.69 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.76;MQ0=0;OQ=3048.33;QD=39.08;SB=-1465.48 GT:AD:DP:GL:GQ 1/1:0,78:77:-308.44,-23.20,-0.02:99 -chr1 4548034 rs669252 A G 36.37 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=2;HaplotypeScore=0.97;MQ=59.78;MQ0=0;OQ=2568.64;QD=30.58;SB=-1254.84 GT:AD:DP:GL:GQ 1/1:0,84:80:-260.52,-24.13,-0.08:99 -chr1 4548229 rs527146 C T 195.56 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.54;MQ0=0;OQ=2361.57;QD=37.49;SB=-975.04 GT:AD:DP:GL:GQ 1/1:2,61:63:-246.39,-18.98,-6.65:99 -chr1 4548230 rs553803 A G 202.91 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.54;MQ0=0;OQ=2093.62;QD=33.23;SB=-906.61 GT:AD:DP:GL:GQ 1/1:2,61:63:-221.00,-18.97,-8.05:99 -chr1 4548433 rs504274 C T 6.37 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.00;HRun=4;HaplotypeScore=2.30;MQ=59.56;MQ0=0;OQ=3385.81;QD=39.83;SB=-1431.01 GT:AD:DP:GL:GQ 1/1:0,85:84:-337.58,-25.30,-0.02:99 -chr1 4548537 rs916404 A G 176.85 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.01;MQ=59.60;MQ0=0;OQ=1563.60;QD=27.43;SB=-730.94 GT:AD:DP:GL:GQ 1/1:0,57:51:-160.00,-15.38,-0.05:99 -chr1 4548552 rs1811133 G A 623.08 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=2054.70;QD=38.77;SB=-776.53 GT:AD:DP:GL:GQ 1/1:0,53:52:-209.07,-15.66,-0.01:99 -chr1 4548640 rs10915566 C T 338.58 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=59.67;MQ0=0;OQ=1058.12;QD=15.12;SB=-552.39 GT:AD:DP:GL:GQ 0/1:37,33:67:-129.29,-20.20,-113.66:99 -chr1 4548685 rs2176113 C T 467.66 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1206.49;QD=16.76;SB=-424.43 GT:AD:DP:GL:GQ 0/1:37,35:72:-145.62,-21.68,-138.53:99 -chr1 4548689 rs549918 C T 547.08 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2745.70;QD=39.22;SB=-872.18 GT:AD:DP:GL:GQ 1/1:0,70:69:-278.17,-20.79,-0.02:99 -chr1 4548722 rs549150 C T 597.32 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=3119.07;QD=40.51;SB=-1266.19 GT:AD:DP:GL:GQ 1/1:0,77:77:-315.51,-23.19,-0.01:99 -chr1 4548785 rs548958 A C 587.96 PASS AC=2;AF=1.00;AN=2;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.52;MQ0=0;OQ=3225.28;QD=33.25;SB=-1553.11 GT:AD:DP:GL:GQ 1/1:0,97:93:-326.16,-28.01,-0.03:99 -chr1 4548901 rs683704 G A 493.67 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2363.22;QD=39.39;SB=-1015.37 GT:AD:DP:GL:GQ 1/1:0,60:60:-239.92,-18.08,-0.02:99 -chr1 4549335 rs572875 G A 610.19 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.57;MQ0=0;OQ=2583.49;QD=39.75;SB=-1223.62 GT:AD:DP:GL:GQ 1/1:0,65:64:-261.95,-19.28,-0.01:99 -chr1 4549598 rs520532 C T 634.82 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=1;OQ=2560.49;QD=37.65;SB=-1198.62 GT:AD:DP:GL:GQ 1/1:0,68:66:-259.66,-19.89,-0.02:99 -chr1 4550061 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=96;Dels=0.00;HRun=20;HaplotypeScore=23.52;MQ=43.78;MQ0=0;OQ=658.49;QD=6.86;SB=83.26 GT:AD:DP:GL:GQ 0/1:53,43:71:-90.53,-21.40,-163.68:99 -chr1 4550163 rs189538 T C 1.23 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=2;HaplotypeScore=4.99;MQ=53.64;MQ0=0;OQ=1059.98;QD=26.50;SB=-540.85 GT:AD:DP:GL:GQ 1/1:0,40:35:-109.62,-10.56,-0.04:99 -chr1 4550501 rs10915567 A T 204.42 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=58.86;MQ0=0;OQ=971.67;QD=17.35;SB=-337.66 GT:AD:DP:GL:GQ 0/1:25,31:54:-116.71,-16.26,-86.04:99 -chr1 4550640 rs241213 G A 356.42 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=2857.67;QD=40.25;SB=-1367.83 GT:AD:DP:GL:GQ 1/1:0,71:71:-289.37,-21.39,-0.02:99 -chr1 4550851 rs164775 A G 34.10 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=5.34;MQ=59.24;MQ0=0;OQ=775.11;QD=14.09;SB=-373.36 GT:AD:DP:GL:GQ 0/1:28,27:55:-97.36,-16.57,-110.68:99 -chr1 4551064 rs12079284 G A 324.95 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=2.40;MQ=59.55;MQ0=0;OQ=1490.67;QD=17.96;SB=-575.98 GT:AD:DP:GL:GQ 0/1:39,44:83:-177.35,-25.00,-139.24:99 -chr1 4551090 rs164774 A C 75.23 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=3;HaplotypeScore=0.79;MQ=59.47;MQ0=0;OQ=2365.79;QD=33.80;SB=-1092.51 GT:AD:DP:GL:GQ 1/1:0,70:67:-240.18,-20.18,-0.02:99 -chr1 4551865 rs10489134 G C 328.76 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.70;MQ=59.44;MQ0=0;OQ=1198.12;QD=16.19;SB=-348.77 GT:AD:DP:GL:GQ 0/1:36,38:72:-144.81,-21.71,-156.52:99 -chr1 4552887 rs7554766 G A 776.54 Indel AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.13;MQ0=0;QD=12.13;SB=-327.33 GT:AD:DP:GL:GQ 0/1:39,25:57:-98.11,-17.17,-116.23:99 -chr1 4552953 rs7518655 C T 177.07 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=2.86;MQ=58.99;MQ0=0;OQ=677.30;QD=14.72;SB=-320.35 GT:AD:DP:GL:GQ 0/1:23,23:43:-83.97,-12.96,-72.15:99 -chr1 4553124 rs7518781 C A 341.53 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=2.10;MQ=59.31;MQ0=0;OQ=849.36;QD=13.92;SB=-331.16 GT:AD:DP:GL:GQ 0/1:30,31:56:-105.09,-16.87,-90.31:99 -chr1 4553830 rs164770 A G 0.31 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=3;HaplotypeScore=7.02;MQ=59.30;MQ0=0;OQ=1972.78;QD=32.88;SB=-746.94 GT:AD:DP:GL:GQ 1/1:2,57:55:-200.88,-16.57,-0.02:99 -chr1 4554084 rs61767667 T A 362.66 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=502.84;QD=10.48;SB=-173.16 GT:AD:DP:GL:GQ 0/1:30,18:48:-68.02,-14.46,-113.49:99 -chr1 4554189 rs61767668 G A 492.83 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=958.92;QD=14.31;SB=-387.15 GT:AD:DP:GL:GQ 0/1:38,29:66:-119.06,-19.89,-123.05:99 -chr1 4555833 rs540572 C A 391.14 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=602.48;QD=12.30;SB=-99.63 GT:AD:DP:GL:GQ 0/1:24,25:46:-77.39,-13.85,-83.99:99 -chr1 4556007 rs6426423 C A 388.51 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=59.29;MQ0=0;OQ=809.24;QD=15.27;SB=-378.16 GT:AD:DP:GL:GQ 0/1:24,29:51:-99.57,-15.36,-78.05:99 -chr1 4556396 rs531363 C T 270.22 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=785.64;QD=14.03;SB=-358.40 GT:AD:DP:GL:GQ 0/1:30,26:54:-98.13,-16.29,-91.52:99 -chr1 4556558 rs129794 G A 506.73 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=510.17;QD=11.09;SB=-262.22 GT:AD:DP:GL:GQ 0/1:29,17:46:-68.16,-13.86,-103.52:99 -chr1 4556721 rs10799248 G A 151.65 PASS AC=1;AF=0.50;AN=2;DB;DP=32;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=483.34;QD=15.10;SB=-178.66 GT:AD:DP:GL:GQ 0/1:17,15:30:-60.66,-9.04,-48.95:99 -chr1 4556909 rs526695 T C 306.82 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=58.98;MQ0=0;OQ=2857.53;QD=34.85;SB=-1208.70 GT:AD:DP:GL:GQ 1/1:0,82:80:-289.36,-24.10,-0.02:99 -chr1 4556982 rs516947 G A 448.32 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.06;MQ0=0;OQ=2681.00;QD=38.86;SB=-634.83 GT:AD:DP:GL:GQ 1/1:0,69:67:-271.71,-20.19,-0.02:99 -chr1 4556992 rs516977 A G 448.48 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.27;MQ0=0;OQ=1828.72;QD=29.03;SB=-545.85 GT:AD:DP:GL:GQ 1/1:0,63:60:-186.53,-18.11,-0.07:99 -chr1 4557030 rs517092 A C 349.51 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=1428.85;QD=26.46;SB=-498.86 GT:AD:DP:GL:GQ 1/1:0,54:46:-146.51,-13.87,-0.04:99 -chr1 4557056 rs524982 C T 158.92 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=59.64;MQ0=0;OQ=2000.95;QD=38.48;SB=-916.28 GT:AD:DP:GL:GQ 1/1:0,52:51:-203.70,-15.37,-0.02:99 -chr1 4557155 rs651695 A T 85.58 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=3;HaplotypeScore=2.39;MQ=59.42;MQ0=0;OQ=1262.50;QD=15.98;SB=-615.05 GT:AD:DP:GL:GQ 0/1:40,39:78:-153.02,-23.49,-149.00:99 -chr1 4557694 rs653988 C T 110.63 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=59.82;MQ0=0;OQ=2793.65;QD=39.91;SB=-1109.49 GT:AD:DP:GL:GQ 1/1:0,70:70:-282.97,-21.09,-0.02:99 -chr1 4558171 rs549239 T C 727.04 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.17;MQ0=0;OQ=2944.97;QD=35.06;SB=-1221.82 GT:AD:DP:GL:GQ 1/1:0,84:83:-298.11,-25.00,-0.03:99 -chr1 4558199 rs12726702 T A 2233 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=6;HaplotypeScore=61.64;MQ=53.38;MQ0=0;QD=26.58;SB=-718.98 GT:AD:DP:GL:GQ 0/1:14,70:81:-250.99,-24.40,-50.82:99 -chr1 4558206 rs549087 T A 2870.37 Indel;SnpCluster AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.01;HRun=6;HaplotypeScore=46.58;MQ=52.93;MQ0=0;QD=35.88;SB=-1138.04 GT:AD:DP:GL:GQ 1/1:0,79:79:-290.65,-23.50,-0.03:99 -chr1 4558209 rs28687799 A T 819.27 Indel;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=4;HaplotypeScore=29.81;MQ=52.84;MQ0=0;QD=10.37;SB=-175.59 GT:AD:DP:GL:GQ 0/1:49,30:77:-108.41,-23.20,-171.08:99 -chr1 4558214 rs59930628 A T 84.16 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.03;HRun=4;HaplotypeScore=38.67;MQ=53.63;MQ0=0;QD=1.09;SB=56.66 GT:AD:DP:GL:GQ 0/1:66,9:73:-33.09,-21.39,-235.05:99 -chr1 4558250 rs666799 A C 496.03 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=54.14;MQ0=0;OQ=2047.56;QD=34.70;SB=-847.08 GT:AD:DP:GL:GQ 1/1:0,59:58:-208.36,-17.47,-0.02:99 -chr1 4558398 rs12567277 C T 337.11 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.53;MQ0=0;OQ=912.06;QD=18.61;SB=-436.84 GT:AD:DP:GL:GQ 0/1:22,27:48:-108.95,-14.46,-68.62:99 -chr1 4558676 rs553691 C T 200.13 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=59.21;MQ0=0;OQ=1974.68;QD=37.26;SB=-1009.66 GT:AD:DP:GL:GQ 1/1:0,53:52:-201.08,-15.67,-0.02:99 -chr1 4560412 rs589176 A G 118.19 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=1;HaplotypeScore=2.29;MQ=58.87;MQ0=0;OQ=545.72;QD=13.31;SB=-145.53 GT:AD:DP:GL:GQ 0/1:20,21:40:-69.91,-12.06,-74.33:99 -chr1 4561004 rs602244 T C 195.92 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=2.83;MQ=59.64;MQ0=0;OQ=1077.64;QD=16.84;SB=-452.16 GT:AD:DP:GL:GQ 0/1:26,38:63:-130.03,-18.98,-104.11:99 -chr1 4561499 rs604465 G A 250.02 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=59.13;MQ0=0;OQ=735.55;QD=15.32;SB=-280.30 GT:AD:DP:GL:GQ 0/1:25,23:45:-90.40,-13.56,-80.37:99 -chr1 4561737 rs563481 C T 22.90 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=3;HaplotypeScore=0.93;MQ=60.00;MQ0=0;OQ=747.56;QD=17.80;SB=-287.30 GT:AD:DP:GL:GQ 0/1:20,22:42:-90.69,-12.65,-73.13:99 -chr1 4562268 rs537761 C A 317.78 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=820.87;QD=16.75;SB=-394.13 GT:AD:DP:GL:GQ 0/1:21,28:48:-99.83,-14.46,-74.67:99 -chr1 4562392 rs618751 G A 349.01 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=2.29;MQ=60.00;MQ0=0;OQ=1032.44;QD=14.14;SB=-366.34 GT:AD:DP:GL:GQ 0/1:41,32:73:-128.52,-21.99,-148.49:99 -chr1 4562641 rs534159 C T 355.83 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=808.69;QD=13.71;SB=-376.39 GT:AD:DP:GL:GQ 0/1:33,26:58:-101.65,-17.50,-100.37:99 -chr1 4565129 rs241243 A G 370.62 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.73;MQ0=0;OQ=694.01;QD=8.07;SB=-138.39 GT:AD:DP:GL:GQ 0/1:53,33:82:-97.39,-24.71,-212.58:99 -chr1 4565904 rs10915569 C A 242.27 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=59.39;MQ0=0;OQ=1490.43;QD=19.61;SB=-754.94 GT:AD:DP:GL:GQ 0/1:27,49:74:-174.61,-22.29,-94.95:99 -chr1 4566354 rs164780 C G 240.11 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=59.64;MQ0=0;OQ=2456.30;QD=38.38;SB=-1204.26 GT:AD:DP:GL:GQ 1/1:0,64:63:-249.27,-19.01,-0.05:99 -chr1 4566679 rs151716 A G 365.52 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.65;MQ=59.43;MQ0=0;OQ=771.72;QD=11.87;SB=-373.98 GT:AD:DP:GL:GQ 0/1:33,32:64:-99.75,-19.29,-131.65:99 -chr1 4567238 rs4654450 G A 244.97 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=59.42;MQ0=0;OQ=1219.09;QD=16.93;SB=-598.62 GT:AD:DP:GL:GQ 0/1:35,37:71:-146.59,-21.39,-121.89:99 -chr1 4567954 rs151715 A G 136 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.44;MQ0=0;OQ=821.52;QD=10.95;SB=-417.84 GT:AD:DP:GL:GQ 0/1:41,34:74:-107.74,-22.30,-168.10:99 -chr1 4568017 rs241242 G T 115.78 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.56;MQ=60.00;MQ0=0;OQ=1682.11;QD=33.64;SB=-638.02 GT:AD:DP:GL:GQ 1/1:0,49:48:-171.82,-14.46,-0.02:99 -chr1 4568283 rs11590266 A G 358.35 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.33;MQ=59.56;MQ0=0;OQ=565.36;QD=10.87;SB=-241.59 GT:AD:DP:GL:GQ 0/1:27,24:51:-77.60,-17.78,-112.88:99 -chr1 4571271 rs164779 C G 314.41 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=59.44;MQ0=0;OQ=1283.51;QD=17.11;SB=-664.28 GT:AD:DP:GL:GQ 0/1:38,37:72:-153.33,-21.69,-161.13:99 -chr1 4571572 . C T 90.66 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.84;MQ=59.56;MQ0=0;OQ=626.01;QD=12.04;SB=-331.33 GT:AD:DP:GL:GQ 0/1:32,20:47:-80.06,-14.17,-86.19:99 -chr1 4572354 rs164778 T C 225.65 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1559.84;QD=35.45;SB=-660.32 GT:AD:DP:GL:GQ 1/1:0,44:44:-159.58,-13.25,-0.01:99 -chr1 4572615 rs6703429 T C 577.31 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.72;MQ0=0;OQ=862.43;QD=13.07;SB=-402.26 GT:AD:DP:GL:GQ 0/1:35,31:65:-109.11,-19.58,-142.67:99 -chr1 4574299 . C A 554.66 Indel AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.59;MQ0=0;QD=10.47;SB=-260.28 GT:AD:DP:GL:GQ 0/1:31,22:48:-73.21,-14.46,-96.27:99 -chr1 4576029 rs164776 C T 259.84 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=59.56;MQ0=0;OQ=893.05;QD=17.17;SB=-421.82 GT:AD:DP:GL:GQ 0/1:24,28:50:-107.66,-15.07,-72.44:99 -chr1 4576797 rs2411886 G C 186.46 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=1.24;MQ=59.03;MQ0=0;OQ=1978.62;QD=41.22;SB=-1006.27 GT:AD:DP:GL:GQ 1/1:0,47:46:-201.46,-13.86,-0.01:99 -chr1 4576947 rs2411887 C T 275.87 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=58.35;MQ0=0;OQ=1931.75;QD=37.88;SB=-945.28 GT:AD:DP:GL:GQ 1/1:0,51:50:-196.78,-15.07,-0.02:99 -chr1 4577395 rs4403602 C G 245.41 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=59.46;MQ0=0;OQ=1536.03;QD=35.72;SB=-775.22 GT:AD:DP:GL:GQ 1/1:0,43:41:-157.23,-12.38,-0.05:99 -chr1 4577589 rs7554628 T C 1.90 PASS AC=2;AF=1.00;AN=2;DB;DP=32;Dels=0.00;HRun=1;HaplotypeScore=1.47;MQ=57.95;MQ0=0;OQ=730.12;QD=22.82;SB=-185.76 GT:AD:DP:GL:GQ 1/1:0,31:25:-79.87,-10.17,-3.27:69.05 -chr1 4577983 rs7555011 T C 161.26 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.31;MQ=59.09;MQ0=0;OQ=1457.56;QD=28.58;SB=-435.18 GT:AD:DP:GL:GQ 1/1:0,51:47:-149.39,-14.18,-0.05:99 -chr1 4578231 rs35259920 T A 832.15 Indel AC=2;AF=1.00;AN=2;DB;DP=29;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.20;MQ0=0;QD=28.69;SB=-10.00 GT:AD:DP:GL:GQ 1/1:1,28:26:-86.82,-7.84,-0.02:78.19 -chr1 4578361 rs7554792 A C 303.82 PASS AC=2;AF=1.00;AN=2;DB;DP=9;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.92;MQ0=0;OQ=236.46;QD=26.27;SB=-138.00 GT:AD:DP:GL:GQ 1/1:0,9:8:-27.23,-2.41,-0.00:24.06 -chr1 4578400 . A T 84.19 Indel AC=1;AF=0.50;AN=2;DP=14;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=46.65;MQ0=0;QD=6.01;SB=-42.96 GT:AD:DP:GL:GQ 0/1:10,4:13:-15.62,-3.92,-34.97:99 -chr1 4579811 rs1905304 C A 19.42 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=5;HaplotypeScore=0.00;MQ=58.10;MQ0=0;OQ=2321.72;QD=36.28;SB=-1110.43 GT:AD:DP:GL:GQ 1/1:0,64:63:-235.77,-18.97,-0.01:99 -chr1 4580559 rs56945522 G A 92.56 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=61.48;MQ0=0;OQ=2293.20;QD=38.87;SB=-907.71 GT:AD:DP:GL:GQ 1/1:0,59:58:-232.92,-17.48,-0.02:99 -chr1 4581964 rs6668002 T C 241.68 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=60.00;MQ0=0;OQ=2274.26;QD=30.73;SB=-1092.12 GT:AD:DP:GL:GQ 1/1:0,73:71:-231.07,-21.41,-0.06:99 -chr1 4583570 rs1573748 A G 1957.91 Indel AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.66;MQ=60.10;MQ0=0;QD=31.08;SB=-816.28 GT:AD:DP:GL:GQ 1/1:0,63:58:-199.41,-17.48,-0.04:99 -chr1 4584109 rs6657421 G A 130.49 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=59.13;MQ0=0;OQ=1834.09;QD=38.21;SB=-703.35 GT:AD:DP:GL:GQ 1/1:0,48:47:-187.01,-14.16,-0.01:99 -chr1 4584165 rs6674936 T C 66.31 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=2.13;MQ=59.25;MQ0=0;OQ=1819.57;QD=32.49;SB=-925.04 GT:AD:DP:GL:GQ 1/1:0,56:51:-185.56,-15.36,-0.01:99 -chr1 4585082 rs1107467 G A 137.40 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=60.00;MQ0=0;OQ=1423.05;QD=35.58;SB=-452.60 GT:AD:DP:GL:GQ 1/1:0,39:38:-145.91,-11.45,-0.02:99 -chr1 4585332 rs1483199 A G 386.56 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2234.69;QD=31.04;SB=-675.88 GT:AD:DP:GL:GQ 1/1:0,72:67:-227.10,-20.19,-0.04:99 -chr1 4585508 rs875808 G A 162.26 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=1.39;MQ=60.00;MQ0=0;OQ=2216.84;QD=38.89;SB=-1106.64 GT:AD:DP:GL:GQ 1/1:0,57:57:-225.29,-17.17,-0.02:99 -chr1 4585532 rs875807 A G 300.51 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=59.66;MQ0=0;OQ=1870.43;QD=34.01;SB=-960.39 GT:AD:DP:GL:GQ 1/1:0,55:53:-190.65,-15.97,-0.02:99 -chr1 4585731 rs875806 G C 165.71 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2133.21;QD=42.66;SB=-847.32 GT:AD:DP:GL:GQ 1/1:0,50:49:-216.92,-14.76,-0.01:99 -chr1 4586501 rs56028718 G A 84.95 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=3.12;MQ=59.59;MQ0=0;OQ=1260.05;QD=18.53;SB=-634.67 GT:AD:DP:GL:GQ 0/1:31,37:66:-149.17,-19.88,-106.57:99 -chr1 4587142 rs2269620 C T 114.33 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.59;MQ0=0;OQ=2196.52;QD=39.22;SB=-630.34 GT:AD:DP:GL:GQ 1/1:0,56:56:-223.26,-16.87,-0.02:99 -chr1 4587674 rs4654576 A C 214.87 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=886.13;QD=32.82;SB=-420.04 GT:AD:DP:GL:GQ 1/1:0,27:26:-92.21,-7.83,-0.01:78.22 -chr1 4587807 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=2;HaplotypeScore=15.00;MQ=58.93;MQ0=0;OQ=113.78;QD=1.87;SB=74.25 GT:AD:DP:GL:GQ 0/1:34,27:42:-27.32,-12.66,-112.79:99 -chr1 4587893 rs6662425 C G 115.34 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=3.27;MQ=59.36;MQ0=0;OQ=2651.42;QD=40.79;SB=-1007.19 GT:AD:DP:GL:GQ 1/1:0,65:61:-268.75,-18.38,-0.02:99 -chr1 4588021 rs6426430 G T 639.03 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1436.10;QD=35.90;SB=-672.10 GT:AD:DP:GL:GQ 1/1:0,40:40:-147.21,-12.05,-0.01:99 -chr1 4590753 rs7527078 C T 465.85 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.20;MQ0=0;OQ=2043.97;QD=40.08;SB=-576.76 GT:AD:DP:GL:GQ 1/1:0,51:50:-207.99,-15.06,-0.01:99 -chr1 4591042 rs4654577 A G 251.52 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=58.37;MQ0=0;OQ=1466.76;QD=34.11;SB=-679.59 GT:AD:DP:GL:GQ 1/1:0,43:43:-150.28,-12.96,-0.02:99 -chr1 4592515 . G C 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.74;MQ=48.08;MQ0=6;OQ=54.55;QD=1.03;SB=38.38 GT:AD:DP:GL:GQ 0/1:45,8:39:-20.50,-11.76,-139.98:87.39 -chr1 4592571 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=14.42;MQ=41.26;MQ0=11;OQ=65.05;QD=1.07;SB=-23.62 GT:AD:DP:GL:GQ 0/1:49,12:36:-20.65,-10.86,-123.87:97.89 -chr1 4592585 . G C 20.06 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=5.14;MQ=40.25;MQ0=10;QD=0.33;SB=-5.33 GT:AD:DP:GL:GQ 0/1:54,7:37:-16.45,-11.17,-134.84:52.86 -chr1 4592620 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=1;HaplotypeScore=15.36;MQ=35.46;MQ0=10;OQ=92.00;QD=1.46;SB=0.26 GT:AD:DP:GL:GQ 0/1:54,9:42:-25.15,-12.66,-150.31:99 -chr1 4592627 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=1;HaplotypeScore=16.06;MQ=35.72;MQ0=7;OQ=153.87;QD=2.75;SB=-54.16 GT:AD:DP:GL:GQ 0/1:46,10:37:-29.82,-11.15,-128.78:99 -chr1 4592634 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=17.36;MQ=35.58;MQ0=7;OQ=255.85;QD=4.57;SB=-124.48 GT:AD:DP:GL:GQ 0/1:41,15:33:-38.82,-9.95,-100.95:99 -chr1 4592642 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=1;HaplotypeScore=28.60;MQ=35.10;MQ0=5;OQ=106.45;QD=2.01;SB=3.57 GT:AD:DP:GL:GQ 0/1:41,12:38:-25.38,-11.45,-106.45:99 -chr1 4592649 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=27.47;MQ=35.61;MQ0=5;OQ=241.86;QD=4.65;SB=-127.53 GT:AD:DP:GL:GQ 0/1:36,16:37:-38.62,-11.15,-91.45:99 -chr1 4592656 . C A 10.05 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=32.68;MQ=34.61;MQ0=6;QD=0.18;SB=-22.79 GT:AD:DP:GL:GQ 0/1:46,10:31:-13.58,-9.34,-92.74:42.43 -chr1 4592670 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=0;HaplotypeScore=26.44;MQ=31.55;MQ0=8;OQ=92.67;QD=1.54;SB=-36.78 GT:AD:DP:GL:GQ 0/1:47,13:38:-24.00,-11.45,-105.70:99 -chr1 4592691 . C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=0;HaplotypeScore=17.99;MQ=28.93;MQ0=15;OQ=182.04;QD=2.64;SB=-62.36 GT:AD:DP:GL:GQ 0/1:58,11:38:-32.95,-11.46,-95.16:99 -chr1 4592711 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=51;Dels=0.00;HRun=1;HaplotypeScore=17.40;MQ=30.26;MQ0=13;OQ=418.56;QD=8.21;SB=-184.24 GT:AD:DP:GL:GQ 0/1:21,29:22:-51.78,-6.64,-35.47:99 -chr1 4592725 rs7533445 C G 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=21.58;MQ=31.66;MQ0=7;OQ=325.36;QD=9.30;SB=-162.82 GT:AD:DP:GL:GQ 0/1:18,17:13:-39.75,-3.93,-11.50:75.69 -chr1 4592733 . C A 17.31 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=31;Dels=0.00;HRun=0;HaplotypeScore=13.87;MQ=30.28;MQ0=8;QD=0.56;SB=5.02 GT:AD:DP:GL:GQ 0/1:27,3:12:-8.63,-3.62,-27.94:50.06 -chr1 4592740 rs7537972 A C 0.16 PASS AC=1;AF=0.50;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=10.05;MQ=27.67;MQ0=11;OQ=104.80;QD=3.38;SB=-67.99 GT:AD:DP:GL:GQ 0/1:22,9:8:-16.18,-2.41,-9.32:69.09 -chr1 4592747 rs7537975 A C 18.33 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DB;DP=24;Dels=0.00;HRun=1;HaplotypeScore=8.21;MQ=28.35;MQ0=11;QD=0.76;SB=-7.00 GT:AD:DP:GL:GQ 0/1:17,7:4:-6.32,-1.21,-6.24:50.29 -chr1 4592767 rs7533530 C G 42.27 HARD_TO_VALIDATE;LowQual AC=2;AF=1.00;AN=2;DB;DP=14;Dels=0.00;HRun=1;HaplotypeScore=11.04;MQ=30.06;MQ0=7;QD=3.02;SB=-43.89 GT:AD:DP:GL:GQ 1/1:8,5:2:-7.64,-0.61,-0.00:6.02 -chr1 4592837 . C G 13.29 LowQual AC=1;AF=0.50;AN=2;DP=5;Dels=0.00;HRun=1;HaplotypeScore=4.96;MQ=12.04;MQ0=3;QD=2.66;SB=-10.00 GT:AD:DP:GL:GQ 0/1:4,1:1:-4.59,-0.30,-0.00:1.76 -chr1 4592901 . T C 5.07 PASS AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=42.32;MQ0=2;OQ=126.93;QD=6.35;SB=-77.93 GT:AD:DP:GL:GQ 0/1:9,11:15:-20.50,-4.52,-36.40:99 -chr1 4592906 . T C 0.11 PASS AC=2;AF=1.00;AN=2;DP=23;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=41.84;MQ0=3;OQ=578.85;QD=25.17;SB=-157.83 GT:AD:DP:GL:GQ 1/1:0,23:17:-61.47,-5.12,-0.00:51.15 -chr1 4592960 . G C 0.12 PASS AC=1;AF=0.50;AN=2;DP=78;Dels=0.00;HRun=0;HaplotypeScore=4.10;MQ=41.92;MQ0=6;OQ=217.66;QD=2.79;SB=-81.57 GT:AD:DP:GL:GQ 0/1:56,22:47:-39.23,-14.18,-153.65:99 -chr1 4592971 . T C 18.17 PASS AC=1;AF=0.50;AN=2;DP=78;Dels=0.00;HRun=0;HaplotypeScore=3.38;MQ=41.63;MQ0=7;OQ=666.60;QD=8.55;SB=-228.49 GT:AD:DP:GL:GQ 0/1:28,48:45:-83.52,-13.57,-69.37:99 -chr1 4592996 . A C 48.48 HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=1;HaplotypeScore=4.82;MQ=40.87;MQ0=9;QD=0.70;SB=-26.49 GT:AD:DP:GL:GQ 0/1:54,15:47:-22.29,-14.16,-139.10:81.32 -chr1 4593024 . C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=14.22;MQ=41.13;MQ0=10;OQ=73.34;QD=1.41;SB=-39.79 GT:AD:DP:GL:GQ 0/1:35,17:30:-19.66,-9.04,-83.95:99 -chr1 4593037 . G C 11.64 DPFilter;HARD_TO_VALIDATE;LowQual AC=1;AF=0.50;AN=2;DP=41;Dels=0.02;HRun=0;HaplotypeScore=21.01;MQ=42.10;MQ0=8;QD=0.28;SB=26.12 GT:AD:DP:GL:GQ 0/1:33,7:20:-10.45,-6.03,-72.33:44.16 -chr1 4593066 . C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=43;Dels=0.00;HRun=0;HaplotypeScore=16.64;MQ=38.83;MQ0=9;OQ=95.97;QD=2.23;SB=-64.04 GT:AD:DP:GL:GQ 0/1:31,12:22:-19.51,-6.63,-53.44:99 -chr1 4593072 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=12.35;MQ=36.60;MQ0=11;OQ=58.68;QD=1.25;SB=-50.80 GT:AD:DP:GL:GQ 0/1:40,7:24:-16.40,-7.25,-78.79:91.52 -chr1 4593128 . G C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=47;Dels=0.00;HRun=0;HaplotypeScore=7.00;MQ=42.60;MQ0=10;OQ=87.22;QD=1.86;SB=11.06 GT:AD:DP:GL:GQ 0/1:39,8:24:-19.25,-7.24,-80.14:99 -chr1 4593184 . G C 48.23 LowQual AC=1;AF=0.50;AN=2;DP=32;Dels=0.00;HRun=0;HaplotypeScore=5.25;MQ=50.03;MQ0=1;QD=1.51;SB=-24.84 GT:AD:DP:GL:GQ 0/1:27,5:22:-14.75,-6.64,-72.91:81.07 -chr1 4593205 . G C 35.18 LowQual AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=3.11;MQ=47.39;MQ0=4;QD=0.88;SB=-15.82 GT:AD:DP:GL:GQ 0/1:35,5:30:-15.86,-9.06,-106.35:68.02 -chr1 4593241 rs12752874 A C 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=2.83;MQ=43.47;MQ0=5;OQ=55.07;QD=1.28;SB=-27.98 GT:AD:DP:GL:GQ 0/1:30,13:26:-16.62,-7.83,-74.90:87.90 -chr1 4594330 rs34642555 G A 223.53 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.30;MQ=59.56;MQ0=0;OQ=741.34;QD=13.99;SB=-378.39 GT:AD:DP:GL:GQ 0/1:29,24:52:-93.10,-15.68,-88.17:99 -chr1 4599106 rs10753383 T G 347.62 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.01;MQ0=0;OQ=412.58;QD=12.50;SB=-151.92 GT:AD:DP:GL:GQ 0/1:17,16:32:-54.18,-9.64,-62.40:99 -chr1 4599463 rs7513957 G C 46.62 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=2;HaplotypeScore=1.18;MQ=57.56;MQ0=0;OQ=399.60;QD=12.11;SB=-196.33 GT:AD:DP:GL:GQ 0/1:20,13:31:-52.60,-9.35,-73.06:99 -chr1 4600658 rs12122002 G A 36.86 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=2.74;MQ=58.47;MQ0=0;OQ=1298.26;QD=21.28;SB=-656.75 GT:AD:DP:GL:GQ 0/1:24,37:59:-150.88,-17.77,-80.26:99 -chr1 4601609 rs55711858 A G 373.59 PASS AC=1;AF=0.50;AN=2;DB;DP=100;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.77;MQ0=0;OQ=1068.23;QD=10.68;SB=-465.77 GT:AD:DP:GL:GQ 0/1:56,44:100:-140.25,-30.14,-225.51:99 -chr1 4601750 rs2411891 G A 156.02 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=3;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1085.67;QD=16.96;SB=-561.13 GT:AD:DP:GL:GQ 0/1:31,33:63:-130.83,-18.98,-106.71:99 -chr1 4602156 rs61764994 A G 74.11 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=60.00;MQ0=0;OQ=509.21;QD=7.60;SB=-244.13 GT:AD:DP:GL:GQ 0/1:40,27:63:-73.19,-18.99,-161.05:99 -chr1 4602810 rs61764995 C T 382.37 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=850.22;QD=17.35;SB=-339.44 GT:AD:DP:GL:GQ 0/1:22,27:48:-102.77,-14.46,-79.78:99 -chr1 4602966 rs34993795 C T 235.21 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=2.72;MQ=59.03;MQ0=0;OQ=1118.32;QD=16.69;SB=-465.43 GT:AD:DP:GL:GQ 0/1:34,33:66:-135.00,-19.88,-119.08:99 -chr1 4604462 rs2035452 C G 271.67 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.11;MQ0=0;OQ=397.56;QD=15.29;SB=-96.30 GT:AD:DP:GL:GQ 0/1:14,12:25:-50.58,-7.54,-52.60:99 -chr1 4606381 rs10915576 T C 220.72 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=60.00;MQ0=0;OQ=882.56;QD=16.97;SB=-410.32 GT:AD:DP:GL:GQ 0/1:21,31:51:-106.90,-15.36,-86.72:99 -chr1 4606615 rs12125737 C T 418.26 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=59.71;MQ0=0;OQ=1209.07;QD=18.60;SB=-598.14 GT:AD:DP:GL:GQ 0/1:29,36:62:-142.87,-18.68,-88.99:99 -chr1 4607135 rs12122921 G A 2.76 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=10.90;MQ=57.40;MQ0=0;OQ=881.42;QD=13.16;SB=-408.91 GT:AD:DP:GL:GQ 0/1:36,31:56:-108.31,-16.88,-93.30:99 -chr1 4607451 rs28759408 G T 57.59 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=5.28;MQ=57.88;MQ0=1;OQ=710.71;QD=10.45;SB=-279.36 GT:AD:DP:GL:GQ 0/1:39,29:61:-92.73,-18.38,-123.60:99 -chr1 4608914 rs7535194 C A 224.06 PASS AC=1;AF=0.50;AN=2;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=57.78;MQ0=0;OQ=1544.72;QD=16.26;SB=-662.45 GT:AD:DP:GL:GQ 0/1:44,51:95:-186.37,-28.61,-160.23:99 -chr1 4609123 . C T 10.31 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=56.96;MQ0=2;QD=0.17;SB=19.65 GT:AD:DP:GL:GQ 0/1:53,6:55:-20.84,-16.57,-182.90:42.72 -chr1 4609208 rs7539862 A C 150.58 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.48;MQ0=0;OQ=258.18;QD=5.87;SB=-149.80 GT:AD:DP:GL:GQ 0/1:32,12:43:-42.05,-12.95,-117.22:99 -chr1 4609234 . G A 18.35 LowQual AC=1;AF=0.50;AN=2;DP=40;Dels=0.00;HRun=0;HaplotypeScore=3.99;MQ=56.87;MQ0=1;QD=0.46;SB=-22.94 GT:AD:DP:GL:GQ 0/1:35,5:36:-15.96,-10.84,-114.15:51.13 -chr1 4609248 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=1;HaplotypeScore=35.67;MQ=56.49;MQ0=1;OQ=135.28;QD=2.42;SB=50.20 GT:AD:DP:GL:GQ 0/1:46,10:51:-32.18,-15.36,-170.39:99 -chr1 4609249 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=1;HaplotypeScore=97.70;MQ=56.55;MQ0=1;OQ=82.36;QD=1.44;SB=50.16 GT:AD:DP:GL:GQ 0/1:47,10:52:-27.18,-15.66,-163.18:99 -chr1 4609260 rs61764999 C T 6.41 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=5.81;MQ=56.56;MQ0=1;OQ=641.66;QD=10.03;SB=-130.56 GT:AD:DP:GL:GQ 0/1:42,22:63:-86.43,-18.98,-148.93:99 -chr1 4609527 rs4654581 C G 33.46 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.03;MQ=59.43;MQ0=0;QD=0.67;SB=28.36 GT:AD:DP:GL:GQ 0/1:45,5:49:-21.39,-14.76,-192.44:66.29 -chr1 4610341 rs10799250 T C 191.96 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.62;MQ0=0;OQ=886.46;QD=10.43;SB=-400.18 GT:AD:DP:GL:GQ 0/1:51,34:83:-116.93,-25.00,-199.77:99 -chr1 4610346 rs10915577 A G 286.28 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=59.62;MQ0=0;OQ=927.42;QD=11.04;SB=-372.61 GT:AD:DP:GL:GQ 0/1:50,34:82:-120.73,-24.70,-201.64:99 -chr1 4611161 rs12405862 C T 55.82 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=2.70;MQ=59.65;MQ0=0;OQ=705.61;QD=13.31;SB=-372.08 GT:AD:DP:GL:GQ 0/1:30,23:53:-89.81,-15.97,-107.55:99 -chr1 4612905 rs1466520 A G 508.10 PASS AC=2;AF=1.00;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.49;MQ0=0;OQ=1092.36;QD=32.13;SB=-567.90 GT:AD:DP:GL:GQ 1/1:0,34:32:-112.83,-9.64,-0.01:96.28 -chr1 4613357 rs4144451 T C 2.82 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=4;HaplotypeScore=1.16;MQ=60.00;MQ0=0;OQ=378.96;QD=8.81;SB=-197.21 GT:AD:DP:GL:GQ 0/1:27,16:40:-53.24,-12.06,-95.58:99 -chr1 4616788 rs12127797 G C 214.89 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=4.57;MQ=59.39;MQ0=0;OQ=1251.84;QD=16.47;SB=-458.74 GT:AD:DP:GL:GQ 0/1:41,34:72:-150.17,-21.70,-159.82:99 -chr1 4619890 rs7544371 G A 283.12 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.45;MQ0=0;OQ=1234.26;QD=22.04;SB=-596.70 GT:AD:DP:GL:GQ 0/1:21,35:56:-143.59,-16.88,-63.94:99 -chr1 4621067 rs6426432 G C 375.69 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.65;MQ=60.00;MQ0=0;OQ=975.42;QD=15.73;SB=-398.88 GT:AD:DP:GL:GQ 0/1:35,27:62:-119.51,-18.68,-150.23:99 -chr1 4621285 rs6658403 C T 186.42 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=59.63;MQ0=0;OQ=651.01;QD=10.50;SB=-348.83 GT:AD:DP:GL:GQ 0/1:39,23:60:-86.46,-18.07,-139.05:99 -chr1 4622291 rs2035454 A G 361.79 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=1.59;MQ=59.15;MQ0=0;OQ=932.32;QD=13.13;SB=-403.21 GT:AD:DP:GL:GQ 0/1:39,32:70:-117.60,-21.09,-152.00:99 -chr1 4622303 rs1531830 T C 306.21 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=59.12;MQ0=0;OQ=753.21;QD=10.92;SB=-275.11 GT:AD:DP:GL:GQ 0/1:39,30:68:-99.09,-20.49,-155.18:99 -chr1 4623109 rs10799251 G A 463.40 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=863.86;QD=15.43;SB=-362.38 GT:AD:DP:GL:GQ 0/1:30,26:56:-106.54,-16.87,-110.57:99 -chr1 4623282 rs10799252 G C 114.19 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=53.79;MQ0=0;OQ=899.36;QD=20.92;SB=-445.94 GT:AD:DP:GL:GQ 0/1:17,26:42:-105.88,-12.66,-71.37:99 -chr1 4623298 rs10799253 T C 313.76 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.67;MQ=52.77;MQ0=0;OQ=616.14;QD=14.00;SB=-298.33 GT:AD:DP:GL:GQ 0/1:18,26:39:-76.66,-11.76,-55.81:99 -chr1 4623777 rs10915578 A G 84.84 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=0.82;MQ=58.86;MQ0=0;OQ=552.36;QD=9.69;SB=-296.32 GT:AD:DP:GL:GQ 0/1:35,22:57:-75.70,-17.18,-138.68:99 -chr1 4623873 rs10915579 T C 271.16 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=57.84;MQ0=0;OQ=661.07;QD=10.17;SB=-259.38 GT:AD:DP:GL:GQ 0/1:40,25:64:-88.68,-19.29,-154.96:99 -chr1 4624091 rs12135245 G C 41.47 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=3;HaplotypeScore=1.89;MQ=59.70;MQ0=0;OQ=1186.96;QD=19.14;SB=-476.78 GT:AD:DP:GL:GQ 0/1:28,34:59:-139.77,-17.79,-108.63:99 -chr1 4624130 rs12140542 T C 140.19 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=2.13;MQ=59.74;MQ0=0;OQ=656.89;QD=9.12;SB=-348.92 GT:AD:DP:GL:GQ 0/1:43,29:71:-90.37,-21.40,-172.64:99 -chr1 4624492 rs2035455 C T 468.68 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=702.27;QD=12.54;SB=-335.31 GT:AD:DP:GL:GQ 0/1:34,22:55:-90.09,-16.58,-106.86:99 -chr1 4624817 rs17421247 C T 331.36 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.99;MQ=59.65;MQ0=0;OQ=1014.16;QD=15.37;SB=-402.77 GT:AD:DP:GL:GQ 0/1:35,31:64:-123.99,-19.29,-104.67:99 -chr1 4626224 rs10915580 G C 281.25 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=58.07;MQ0=0;OQ=1106.61;QD=18.14;SB=-348.42 GT:AD:DP:GL:GQ 0/1:31,30:61:-132.34,-18.40,-124.48:99 -chr1 4626314 rs12567266 T C 443.89 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=51.48;MQ0=0;OQ=855.53;QD=18.20;SB=-345.35 GT:AD:DP:GL:GQ 0/1:19,28:47:-102.99,-14.16,-75.71:99 -chr1 4626341 rs12752003 A G 152.30 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=47.43;MQ0=0;OQ=459.90;QD=12.10;SB=-75.78 GT:AD:DP:GL:GQ 0/1:17,21:35:-59.82,-10.55,-67.90:99 -chr1 4626392 rs12565906 G A 175.56 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=1.36;MQ=51.30;MQ0=0;OQ=647.78;QD=15.42;SB=-283.17 GT:AD:DP:GL:GQ 0/1:21,21:41:-80.41,-12.35,-73.25:99 -chr1 4626545 rs12137938 T C 1.78 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=2;HaplotypeScore=6.74;MQ=54.18;MQ0=1;OQ=220.73;QD=6.49;SB=-111.61 GT:AD:DP:GL:GQ 0/1:20,14:29:-34.11,-8.75,-66.24:99 -chr1 4626759 rs10799254 A G 12.84 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=1;HaplotypeScore=7.18;MQ=56.44;MQ0=0;OQ=516.47;QD=13.59;SB=-271.00 GT:AD:DP:GL:GQ 0/1:15,23:33:-64.88,-9.95,-53.03:99 -chr1 4626886 rs12137092 A G 70.84 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=50.68;MQ0=3;OQ=425.89;QD=8.19;SB=-166.49 GT:AD:DP:GL:GQ 0/1:30,22:47:-60.04,-14.17,-111.36:99 -chr1 4627103 rs6663166 A G 61.80 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=1.05;MQ=58.88;MQ0=0;OQ=507.83;QD=9.40;SB=-149.43 GT:AD:DP:GL:GQ 0/1:33,21:53:-70.04,-15.97,-130.76:99 -chr1 4627150 rs12138132 T C 261.25 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.66;MQ0=0;OQ=429.65;QD=7.81;SB=-213.21 GT:AD:DP:GL:GQ 0/1:37,18:55:-62.82,-16.57,-149.18:99 -chr1 4627390 rs12133670 G A 454.29 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.64;MQ0=0;OQ=810.38;QD=15.58;SB=-415.38 GT:AD:DP:GL:GQ 0/1:28,24:51:-99.69,-15.36,-91.80:99 -chr1 4628089 rs12133909 G T 196.70 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=59.88;MQ0=0;OQ=673.35;QD=10.52;SB=-318.02 GT:AD:DP:GL:GQ 0/1:40,24:62:-89.30,-18.68,-116.17:99 -chr1 4628258 rs6703379 G A 0.30 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=13.50;MQ=55.99;MQ0=1;OQ=611.30;QD=11.32;SB=-213.68 GT:AD:DP:GL:GQ 0/1:33,21:47:-78.59,-14.17,-86.02:99 -chr1 4628265 rs6672122 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.04;HRun=0;HaplotypeScore=25.47;MQ=56.13;MQ0=1;OQ=602.93;QD=10.77;SB=-162.48 GT:AD:DP:GL:GQ 0/1:29,25:52:-78.65,-15.07,-102.50:99 -chr1 4628677 rs6703802 G A 334.66 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=60.00;MQ0=0;OQ=937.15;QD=18.02;SB=-393.92 GT:AD:DP:GL:GQ 0/1:24,28:51:-112.37,-15.37,-73.40:99 -chr1 4630143 rs4654582 T A 2.35 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=10.18;MQ=58.22;MQ0=0;OQ=526.78;QD=10.54;SB=-97.11 GT:AD:DP:GL:GQ 0/1:25,22:38:-67.41,-11.45,-72.86:99 -chr1 4630312 rs4654583 T C 361.82 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1108.52;QD=16.07;SB=-319.34 GT:AD:DP:GL:GQ 0/1:31,38:68:-134.62,-20.48,-127.03:99 -chr1 4630977 rs12141394 A G 593.81 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.47;MQ0=0;OQ=900.99;QD=13.45;SB=-440.92 GT:AD:DP:GL:GQ 0/1:31,36:65:-112.97,-19.59,-120.61:99 -chr1 4631016 rs12139858 C T 367.23 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=891.25;QD=15.37;SB=-441.97 GT:AD:DP:GL:GQ 0/1:31,27:57:-109.59,-17.18,-94.97:99 -chr1 4631110 rs12141432 A G 226.87 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=58.67;MQ0=0;OQ=787.70;QD=12.50;SB=-349.34 GT:AD:DP:GL:GQ 0/1:35,28:62:-100.73,-18.67,-138.62:99 -chr1 4631448 rs4144452 A G 502.74 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.69;MQ0=0;OQ=648.74;QD=10.64;SB=-332.00 GT:AD:DP:GL:GQ 0/1:33,28:59:-85.94,-17.78,-131.20:99 -chr1 4631992 rs12138000 G A 396.61 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=1014.12;QD=15.85;SB=-413.79 GT:AD:DP:GL:GQ 0/1:32,32:63:-123.69,-18.99,-104.09:99 -chr1 4632333 rs1564667 A G 289.52 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.70;MQ0=0;OQ=656.79;QD=8.64;SB=-323.90 GT:AD:DP:GL:GQ 0/1:44,32:72:-90.67,-21.71,-171.92:99 -chr1 4633099 rs4654585 T C 336.77 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=1.88;MQ=59.60;MQ0=0;OQ=968.60;QD=16.70;SB=-498.14 GT:AD:DP:GL:GQ 0/1:26,32:58:-117.61,-17.47,-104.79:99 -chr1 4633208 rs4654586 T A 613.80 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=2145.98;QD=37.00;SB=-956.61 GT:AD:DP:GL:GQ 1/1:0,58:58:-218.20,-17.47,-0.01:99 -chr1 4633215 rs4654455 T C 484.54 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=1991.47;QD=34.94;SB=-790.66 GT:AD:DP:GL:GQ 1/1:0,57:56:-202.75,-16.87,-0.02:99 -chr1 4636316 rs10915584 G T 377.31 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.90;MQ=59.34;MQ0=0;OQ=844.77;QD=13.41;SB=-404.78 GT:AD:DP:GL:GQ 0/1:32,31:58:-105.23,-17.47,-102.72:99 -chr1 4637265 . T C 225.79 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=776.05;QD=14.64;SB=-255.94 GT:AD:DP:GL:GQ 0/1:26,27:53:-96.86,-15.97,-103.32:99 -chr1 4638345 . G A 67.79 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.29;MQ0=0;OQ=991.16;QD=18.70;SB=-412.80 GT:AD:DP:GL:GQ 0/1:24,29:51:-117.77,-15.37,-70.20:99 -chr1 4642883 rs2859392 C G 348.55 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=1.26;MQ=59.71;MQ0=0;OQ=833.93;QD=12.83;SB=-304.28 GT:AD:DP:GL:GQ 0/1:37,28:61:-105.07,-18.39,-160.99:99 -chr1 4643564 rs763238 C T 66.20 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=58.77;MQ0=0;OQ=1042.05;QD=19.66;SB=-208.90 GT:AD:DP:GL:GQ 0/1:21,32:50:-122.56,-15.07,-63.38:99 -chr1 4644154 rs4993529 C T 334.67 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=60.00;MQ0=0;OQ=1314.27;QD=19.62;SB=-670.69 GT:AD:DP:GL:GQ 0/1:27,40:65:-154.30,-19.59,-85.13:99 -chr1 4646074 rs242043 T C 1.61 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=13.28;MQ=59.47;MQ0=0;OQ=1026.27;QD=14.45;SB=-395.20 GT:AD:DP:GL:GQ 0/1:34,37:70:-127.00,-21.09,-134.39:99 -chr1 4646297 rs61765026 G A 183.35 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.73;MQ0=0;OQ=1519.28;QD=17.87;SB=-749.72 GT:AD:DP:GL:GQ 0/1:39,46:84:-180.53,-25.32,-123.19:99 -chr1 4646496 rs10915587 C T 288.71 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=3.87;MQ=60.00;MQ0=0;OQ=1042.81;QD=16.04;SB=-490.54 GT:AD:DP:GL:GQ 0/1:32,33:64:-126.86,-19.30,-98.43:99 -chr1 4646880 rs17344953 G A 102.24 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=5.33;MQ=59.62;MQ0=0;OQ=1025.96;QD=17.10;SB=-396.44 GT:AD:DP:GL:GQ 0/1:26,33:55:-122.45,-16.57,-85.52:99 -chr1 4647597 rs12747700 G A 323.59 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=3.03;MQ=59.29;MQ0=0;OQ=999.88;QD=16.95;SB=-503.14 GT:AD:DP:GL:GQ 0/1:28,31:57:-120.45,-17.18,-86.54:99 -chr1 4648034 rs6684528 G T 259.70 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.52;MQ0=0;OQ=808.60;QD=16.85;SB=-296.69 GT:AD:DP:GL:GQ 0/1:20,28:48:-98.60,-14.46,-70.03:99 -chr1 4648165 rs1076944 G T 243.38 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=58.38;MQ0=0;OQ=602.15;QD=11.58;SB=-146.14 GT:AD:DP:GL:GQ 0/1:27,25:49:-78.26,-14.76,-94.92:99 -chr1 4648936 rs4092257 G A 283.88 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=57.56;MQ0=0;OQ=450.85;QD=13.66;SB=-204.90 GT:AD:DP:GL:GQ 0/1:17,16:32:-58.02,-9.65,-54.32:99 -chr1 4649873 rs187148 C G 93.57 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=0;HaplotypeScore=3.10;MQ=59.76;MQ0=0;OQ=296.24;QD=8.98;SB=-132.74 GT:AD:DP:GL:GQ 0/1:22,11:31:-42.26,-9.35,-85.65:99 -chr1 4651624 . C A 146.63 PASS AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.50;MQ0=0;OQ=797.72;QD=17.34;SB=-280.69 GT:AD:DP:GL:GQ 0/1:17,29:42:-95.71,-12.66,-50.88:99 -chr1 4652138 rs171380 A G 10.05 PASS AC=1;AF=0.50;AN=2;DB;DP=30;Dels=0.00;HRun=2;HaplotypeScore=3.45;MQ=58.45;MQ0=0;OQ=324.85;QD=10.83;SB=-162.34 GT:AD:DP:GL:GQ 0/1:14,16:28:-44.21,-8.45,-55.22:99 -chr1 4653917 rs7525374 A G 301.57 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=624.45;QD=13.58;SB=-244.30 GT:AD:DP:GL:GQ 0/1:21,25:46:-79.59,-13.86,-85.75:99 -chr1 4653963 rs7528195 T C 276.57 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.00;MQ0=0;OQ=479.46;QD=11.42;SB=-265.36 GT:AD:DP:GL:GQ 0/1:21,21:39:-62.99,-11.76,-78.32:99 -chr1 4654404 rs1076945 C T 142.94 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=4.82;MQ=58.13;MQ0=0;OQ=818.85;QD=13.65;SB=-233.53 GT:AD:DP:GL:GQ 0/1:33,27:59:-102.95,-17.78,-107.70:99 -chr1 4655581 . C T 85.40 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=2.82;MQ=59.44;MQ0=0;OQ=1224.61;QD=16.55;SB=-495.16 GT:AD:DP:GL:GQ 0/1:36,38:73:-147.75,-22.00,-119.12:99 -chr1 4656328 rs10915588 T C 75.83 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=629.83;QD=11.88;SB=-281.45 GT:AD:DP:GL:GQ 0/1:30,23:52:-81.93,-15.66,-115.22:99 -chr1 4656461 rs3886389 A G 234.27 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=59.53;MQ0=0;OQ=467.67;QD=9.54;SB=-232.27 GT:AD:DP:GL:GQ 0/1:28,21:49:-64.82,-14.77,-113.76:99 -chr1 4657736 rs6669203 T C 161.22 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=58.29;MQ0=0;OQ=397.97;QD=9.71;SB=-145.57 GT:AD:DP:GL:GQ 0/1:23,18:37:-54.24,-11.16,-78.29:99 -chr1 4658187 rs12121882 C T 363.11 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=849.30;QD=18.07;SB=-359.52 GT:AD:DP:GL:GQ 0/1:21,26:46:-102.08,-13.87,-62.23:99 -chr1 4659178 rs242054 A G 123.55 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=57.49;MQ0=0;OQ=1370.79;QD=30.46;SB=-653.90 GT:AD:DP:GL:GQ 1/1:0,45:44:-140.71,-13.27,-0.04:99 -chr1 4660176 rs61765031 A G 230.02 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.54;MQ=59.01;MQ0=0;OQ=811.95;QD=12.30;SB=-390.16 GT:AD:DP:GL:GQ 0/1:34,31:61:-102.85,-18.37,-129.51:99 -chr1 4663049 rs6686733 T C 216.77 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=4.72;MQ=59.04;MQ0=0;OQ=1082.32;QD=15.92;SB=-503.34 GT:AD:DP:GL:GQ 0/1:29,39:64:-130.80,-19.28,-107.21:99 -chr1 4663261 rs6681520 C T 227.08 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.58;MQ0=0;OQ=1006.77;QD=22.88;SB=-416.49 GT:AD:DP:GL:GQ 0/1:15,29:43:-116.92,-12.96,-47.72:99 -chr1 4665250 rs12131565 A G 49.08 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=2;HaplotypeScore=2.95;MQ=47.43;MQ0=2;OQ=1030.19;QD=13.38;SB=-443.10 GT:AD:DP:GL:GQ 0/1:41,36:75:-128.89,-22.59,-163.25:99 -chr1 4665448 rs10915590 T C 343.30 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.85;MQ0=0;OQ=469.57;QD=9.58;SB=-224.22 GT:AD:DP:GL:GQ 0/1:29,20:48:-64.71,-14.47,-110.90:99 -chr1 4665815 rs10915592 T C 6.94 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=2.44;MQ=60.00;MQ0=0;OQ=940.71;QD=17.75;SB=-259.53 GT:AD:DP:GL:GQ 0/1:21,32:50:-112.42,-15.06,-71.48:99 -chr1 4667613 rs2101196 A G 254.46 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=2.34;MQ=56.97;MQ0=0;OQ=1013.81;QD=15.13;SB=-354.95 GT:AD:DP:GL:GQ 0/1:32,35:65:-124.25,-19.58,-123.74:99 -chr1 4667836 . T C 82.17 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=758.61;QD=12.24;SB=-402.64 GT:AD:DP:GL:GQ 0/1:31,31:61:-97.53,-18.39,-127.98:99 -chr1 4667882 rs2086718 C T 43.81 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.02;HRun=0;HaplotypeScore=5.21;MQ=57.79;MQ0=0;OQ=518.41;QD=9.43;SB=-229.72 GT:AD:DP:GL:GQ 0/1:31,22:40:-66.89,-11.76,-68.62:99 -chr1 4667894 . G T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=12;HaplotypeScore=6.56;MQ=55.45;MQ0=0;OQ=63.00;QD=0.98;SB=-8.73 GT:AD:DP:GL:GQ 0/1:54,10:56:-26.47,-16.89,-148.75:95.84 -chr1 4668291 rs6670802 G A 143.50 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=56.73;MQ0=0;OQ=372.96;QD=8.29;SB=-147.60 GT:AD:DP:GL:GQ 0/1:28,16:38:-52.04,-11.46,-80.12:99 -chr1 4668400 rs6688423 T C 371.01 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=1.05;MQ=60.00;MQ0=0;OQ=710.41;QD=13.16;SB=-359.33 GT:AD:DP:GL:GQ 0/1:26,28:52:-89.99,-15.67,-104.81:99 -chr1 4668882 . T C 49.86 LowQual AC=1;AF=0.50;AN=2;DP=20;Dels=0.00;HRun=3;HaplotypeScore=9.17;MQ=57.66;MQ0=0;QD=2.49;SB=-0.98 GT:AD:DP:GL:GQ 0/1:11,9:11:-11.59,-3.32,-24.54:82.70 -chr1 4669925 rs12760917 T C 439.23 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.29;MQ0=0;OQ=917.38;QD=14.11;SB=-279.27 GT:AD:DP:GL:GQ 0/1:29,36:64:-114.31,-19.29,-115.57:99 -chr1 4670306 rs4654594 T C 240.89 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=58.06;MQ0=0;OQ=1070.08;QD=17.54;SB=-482.88 GT:AD:DP:GL:GQ 0/1:21,40:58:-127.77,-17.48,-76.71:99 -chr1 4670764 rs1483197 T C 225.25 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=4.25;MQ=58.29;MQ0=0;OQ=709.74;QD=13.65;SB=-285.29 GT:AD:DP:GL:GQ 0/1:22,29:49:-89.03,-14.77,-80.10:99 -chr1 4670879 . G T 21.82 PASS AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=1.85;MQ=60.00;MQ0=0;OQ=722.25;QD=15.70;SB=-186.19 GT:AD:DP:GL:GQ 0/1:22,24:42:-88.16,-12.65,-60.03:99 -chr1 4671525 rs989309 G C 65.26 PASS AC=1;AF=0.50;AN=2;DB;DP=33;Dels=0.00;HRun=1;HaplotypeScore=2.50;MQ=60.00;MQ0=0;OQ=327.78;QD=9.93;SB=-148.55 GT:AD:DP:GL:GQ 0/1:21,12:30:-45.12,-9.05,-74.66:99 -chr1 4671555 rs989310 G C 120.18 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=60.00;MQ0=0;OQ=521.90;QD=14.11;SB=-193.59 GT:AD:DP:GL:GQ 0/1:21,16:35:-66.02,-10.55,-86.58:99 -chr1 4671913 rs1061968 T C 32.96 PASS AC=1;AF=0.50;AN=2;DB;DP=16;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=58.55;MQ0=0;OQ=101.72;QD=6.36;SB=-10.00 GT:AD:DP:GL:GQ 0/1:10,6:16:-18.28,-4.82,-40.28:99 -chr1 4672577 rs242056 G A 47.38 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.45;MQ0=0;OQ=1114.83;QD=37.16;SB=-369.99 GT:AD:DP:GL:GQ 1/1:0,30:28:-115.07,-8.43,-0.01:84.28 -chr1 4673126 rs2071999 A C 360.34 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=60.00;MQ0=0;OQ=766.03;QD=12.77;SB=-408.20 GT:AD:DP:GL:GQ 0/1:27,33:59:-97.67,-17.78,-97.47:99 -chr1 4673232 rs56401224 C G 273.95 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.62;MQ=59.63;MQ0=0;OQ=825.52;QD=16.51;SB=-362.08 GT:AD:DP:GL:GQ 0/1:25,25:46:-99.70,-13.86,-96.30:99 -chr1 4673712 rs242057 G A 40.47 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=3;HaplotypeScore=2.46;MQ=59.65;MQ0=0;OQ=947.24;QD=14.35;SB=-485.02 GT:AD:DP:GL:GQ 0/1:36,30:63:-116.99,-18.98,-120.15:99 -chr1 4674298 rs242058 T C 345.93 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.63;MQ0=0;OQ=778.59;QD=15.27;SB=-272.44 GT:AD:DP:GL:GQ 0/1:23,28:50:-96.21,-15.07,-89.60:99 -chr1 4676145 rs4654595 A C 407.01 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=2257.07;QD=35.83;SB=-1055.12 GT:AD:DP:GL:GQ 1/1:0,63:63:-229.31,-18.97,-0.02:99 -chr1 4676402 rs4654596 G A 207.21 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.44;MQ0=0;OQ=2768.52;QD=37.41;SB=-1042.40 GT:AD:DP:GL:GQ 1/1:0,74:71:-280.46,-21.39,-0.02:99 -chr1 4678092 rs3766959 C T 358.01 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.73;MQ0=0;OQ=1524.54;QD=23.10;SB=-743.34 GT:AD:DP:GL:GQ 0/1:22,44:65:-175.33,-19.59,-68.56:99 -chr1 4679148 rs242040 A G 228.84 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.49;MQ=60.00;MQ0=0;OQ=836.32;QD=13.07;SB=-312.23 GT:AD:DP:GL:GQ 0/1:34,30:63:-105.89,-18.98,-137.28:99 -chr1 4679557 rs242041 G C 23.06 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=3;HaplotypeScore=1.52;MQ=58.81;MQ0=0;OQ=500.09;QD=9.81;SB=-250.11 GT:AD:DP:GL:GQ 0/1:32,19:47:-67.48,-14.18,-123.03:99 -chr1 4681011 rs3820251 C T 321.37 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=59.05;MQ0=0;OQ=1264.98;QD=15.06;SB=-599.08 GT:AD:DP:GL:GQ 0/1:45,39:83:-154.80,-25.02,-140.75:99 -chr1 4683002 rs12566272 G A 75.66 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=6.06;MQ=59.60;MQ0=0;OQ=811.79;QD=14.00;SB=-379.10 GT:AD:DP:GL:GQ 0/1:30,28:55:-101.04,-16.58,-98.62:99 -chr1 4683215 rs12085854 C T 250.87 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=58.71;MQ0=0;OQ=595.12;QD=16.53;SB=-237.77 GT:AD:DP:GL:GQ 0/1:12,24:28:-71.24,-8.44,-31.48:99 -chr1 4684416 rs3820252 C T 67.11 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.40;MQ=59.16;MQ0=0;OQ=1099.71;QD=21.99;SB=-407.20 GT:AD:DP:GL:GQ 0/1:18,32:50:-128.32,-15.07,-57.31:99 -chr1 4684710 rs4554693 C T 27.64 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.03;MQ=59.86;MQ0=0;OQ=1309.90;QD=22.98;SB=-464.01 GT:AD:DP:GL:GQ 0/1:20,37:57:-151.45,-17.18,-62.35:99 -chr1 4685955 rs11586740 G T 36.42 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=7.65;MQ=60.00;MQ0=0;OQ=1269.15;QD=17.39;SB=-560.71 GT:AD:DP:GL:GQ 0/1:30,43:69:-150.98,-20.79,-94.07:99 -chr1 4686129 . A G 0.31 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=58.20;MQ0=0;OQ=188.73;QD=3.63;SB=-3.68 GT:AD:DP:GL:GQ 0/1:41,11:52:-37.84,-15.68,-155.85:99 -chr1 4686130 . G C 4.40 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=58.20;MQ0=0;OQ=258.95;QD=4.98;SB=-16.68 GT:AD:DP:GL:GQ 0/1:42,10:52:-44.85,-15.67,-182.52:99 -chr1 4686979 rs242044 A G 24.21 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=59.56;MQ0=0;OQ=1479.37;QD=27.91;SB=-538.14 GT:AD:DP:GL:GQ 1/1:0,52:45:-151.55,-13.56,-0.03:99 -chr1 4687176 rs242045 T C 255.59 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=60.00;MQ0=0;OQ=1371.92;QD=34.30;SB=-697.63 GT:AD:DP:GL:GQ 1/1:0,40:40:-140.79,-12.05,-0.02:99 -chr1 4687868 rs242047 A C 103.52 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=2.65;MQ=59.62;MQ0=0;OQ=770.92;QD=12.85;SB=-248.85 GT:AD:DP:GL:GQ 0/1:32,28:59:-98.15,-17.77,-114.07:99 -chr1 4688746 rs242048 A G 112.68 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=1.71;MQ=59.36;MQ0=0;OQ=768.10;QD=21.34;SB=-331.78 GT:AD:DP:GL:GQ 1/1:0,36:26:-80.42,-7.84,-0.03:78.16 -chr1 4688889 rs242049 T G 239.30 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=60.00;MQ0=0;OQ=1481.34;QD=32.92;SB=-635.03 GT:AD:DP:GL:GQ 1/1:0,45:44:-151.74,-13.26,-0.02:99 -chr1 4695274 rs446529 T C 363.34 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=55.31;MQ0=0;OQ=516.35;QD=9.93;SB=-227.25 GT:AD:DP:GL:GQ 0/1:29,23:50:-69.99,-15.07,-114.97:99 -chr1 4695606 rs648712 C T 1.54 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=10.04;MQ=47.15;MQ0=0;OQ=816.40;QD=17.01;SB=-434.45 GT:AD:DP:GL:GQ 0/1:23,25:46:-98.78,-13.86,-79.74:99 -chr1 4695607 . T G 0.18 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=11.01;MQ=47.15;MQ0=0;OQ=688.64;QD=14.35;SB=-357.86 GT:AD:DP:GL:GQ 0/1:23,25:47:-86.31,-14.16,-83.32:99 -chr1 4695638 rs432330 T A 460.16 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=51.80;MQ0=0;OQ=772.11;QD=15.14;SB=-337.40 GT:AD:DP:GL:GQ 0/1:24,27:50:-95.56,-15.06,-90.18:99 -chr1 4695654 rs449261 T C 245.99 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=2.57;MQ=53.57;MQ0=0;OQ=702.97;QD=13.52;SB=-345.62 GT:AD:DP:GL:GQ 0/1:26,26:49:-88.35,-14.77,-92.65:99 -chr1 4695676 rs435239 G C 185.06 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=2.08;MQ=57.17;MQ0=0;OQ=826.31;QD=16.53;SB=-414.36 GT:AD:DP:GL:GQ 0/1:24,26:47:-100.09,-14.18,-90.75:99 -chr1 4695734 rs416953 T C 152.01 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=59.13;MQ0=0;OQ=882.63;QD=16.65;SB=-283.45 GT:AD:DP:GL:GQ 0/1:22,31:50:-106.61,-15.06,-78.94:99 -chr1 4696083 rs383650 C G 345.55 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.53;MQ=59.10;MQ0=0;OQ=1382.15;QD=17.95;SB=-715.96 GT:AD:DP:GL:GQ 0/1:38,39:75:-164.11,-22.61,-152.21:99 -chr1 4696156 rs436132 G C 8.37 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.25;MQ0=0;OQ=1112.40;QD=19.86;SB=-564.68 GT:AD:DP:GL:GQ 0/1:25,31:56:-131.40,-16.88,-111.00:99 -chr1 4696361 . A C 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=2;HaplotypeScore=10.18;MQ=60.26;MQ0=0;OQ=143.73;QD=2.08;SB=104.31 GT:AD:DP:GL:GQ 0/1:45,24:52:-33.32,-15.67,-137.68:99 -chr1 4696418 rs392630 A G 270.27 PASS AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=59.71;MQ0=0;OQ=1265.58;QD=13.76;SB=-582.79 GT:AD:DP:GL:GQ 0/1:45,47:87:-156.05,-26.21,-176.07:99 -chr1 4697358 rs544738 C A 298.87 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.61;MQ=59.01;MQ0=0;OQ=538.34;QD=14.17;SB=-233.94 GT:AD:DP:GL:GQ 0/1:19,19:37:-68.26,-11.15,-60.83:99 -chr1 4697618 rs445060 G A 155.17 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=2.45;MQ=59.60;MQ0=0;OQ=740.87;QD=12.77;SB=-313.26 GT:AD:DP:GL:GQ 0/1:32,26:54:-93.63,-16.26,-111.70:99 -chr1 4698713 rs578528 A G 87.54 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=59.36;MQ0=0;OQ=385.70;QD=10.71;SB=-193.63 GT:AD:DP:GL:GQ 0/1:21,15:36:-52.70,-10.85,-81.97:99 -chr1 4699130 rs449181 G A 397.02 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.84;MQ=59.67;MQ0=0;OQ=927.44;QD=16.56;SB=-380.14 GT:AD:DP:GL:GQ 0/1:27,29:54:-112.30,-16.28,-85.10:99 -chr1 4700289 rs13376290 T G 0.41 PASS AC=1;AF=0.50;AN=2;DB;DP=26;Dels=0.00;HRun=4;HaplotypeScore=0.10;MQ=48.01;MQ0=0;OQ=193.53;QD=7.44;SB=-0.43 GT:AD:DP:GL:GQ 0/1:15,11:24:-29.87,-7.23,-54.19:99 -chr1 4700426 . C G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=26;Dels=0.00;HRun=2;HaplotypeScore=11.52;MQ=48.42;MQ0=0;OQ=136.63;QD=5.25;SB=-6.99 GT:AD:DP:GL:GQ 0/1:7,19:10:-19.97,-3.02,-19.59:99 -chr1 4700705 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=20;HaplotypeScore=32.92;MQ=48.95;MQ0=0;OQ=199.23;QD=3.83;SB=71.25 GT:AD:DP:GL:GQ 0/1:35,17:41:-35.56,-12.35,-113.25:99 -chr1 4700881 rs529853 G C 174.83 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=3.66;MQ=53.91;MQ0=0;OQ=810.63;QD=16.54;SB=-402.70 GT:AD:DP:GL:GQ 0/1:22,27:47:-98.53,-14.18,-93.65:99 -chr1 4701141 rs381339 T C 9.53 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=2;HaplotypeScore=2.72;MQ=59.22;MQ0=0;OQ=750.05;QD=11.54;SB=-112.61 GT:AD:DP:GL:GQ 0/1:29,33:53:-94.27,-15.98,-96.69:99 -chr1 4701497 rs382623 T C 282.35 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=59.48;MQ0=0;OQ=1093.69;QD=13.50;SB=-513.56 GT:AD:DP:GL:GQ 0/1:38,43:80:-136.77,-24.11,-153.00:99 -chr1 4701516 rs382646 T C 490.40 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.45;MQ0=0;OQ=1091.01;QD=14.36;SB=-413.27 GT:AD:DP:GL:GQ 0/1:38,38:75:-134.98,-22.59,-157.29:99 -chr1 4701783 rs392620 C T 260.56 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=2.19;MQ=59.38;MQ0=0;OQ=1111.05;QD=15.01;SB=-420.88 GT:AD:DP:GL:GQ 0/1:41,33:73:-136.38,-21.99,-143.11:99 -chr1 4702373 rs448741 C T 315.12 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=59.33;MQ0=0;OQ=1161.48;QD=16.83;SB=-516.10 GT:AD:DP:GL:GQ 0/1:33,36:68:-139.92,-20.49,-116.50:99 -chr1 4702588 rs431966 C G 301.89 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.74;MQ0=0;OQ=1167.37;QD=16.21;SB=-392.89 GT:AD:DP:GL:GQ 0/1:35,37:71:-141.44,-21.42,-151.57:99 -chr1 4703125 rs367673 G C 285.90 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.24;MQ0=0;OQ=1282.03;QD=21.02;SB=-602.59 GT:AD:DP:GL:GQ 0/1:26,35:61:-149.87,-18.38,-114.22:99 -chr1 4703446 rs540299 A G 321.95 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.50;MQ=59.10;MQ0=0;OQ=1141.42;QD=14.82;SB=-449.59 GT:AD:DP:GL:GQ 0/1:36,41:75:-140.02,-22.60,-142.02:99 -chr1 4703496 rs648346 G A 131.26 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=58.29;MQ0=0;OQ=1435.37;QD=17.50;SB=-321.28 GT:AD:DP:GL:GQ 0/1:40,42:79:-170.63,-23.81,-120.02:99 -chr1 4703694 rs393976 G A 298.73 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=59.30;MQ0=0;OQ=1022.50;QD=17.04;SB=-396.14 GT:AD:DP:GL:GQ 0/1:30,30:58:-123.01,-17.47,-100.86:99 -chr1 4704145 rs375781 T C 253.06 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=57.53;MQ0=0;OQ=380.91;QD=10.02;SB=-211.48 GT:AD:DP:GL:GQ 0/1:19,19:35:-51.92,-10.55,-74.06:99 -chr1 4704212 rs406065 A T 598.24 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.74;MQ0=0;OQ=1026.86;QD=14.88;SB=-405.55 GT:AD:DP:GL:GQ 0/1:35,34:69:-126.75,-20.78,-135.77:99 -chr1 4704412 rs396199 G A 86.73 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=1.14;MQ=59.62;MQ0=0;OQ=915.71;QD=18.69;SB=-324.82 GT:AD:DP:GL:GQ 0/1:21,28:47:-109.02,-14.16,-69.65:99 -chr1 4704606 rs413178 A G 154.93 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=56.43;MQ0=0;OQ=958.14;QD=15.45;SB=-233.27 GT:AD:DP:GL:GQ 0/1:25,37:59:-116.89,-17.79,-90.61:99 -chr1 4704966 rs414176 A C 426.79 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=59.63;MQ0=0;OQ=751.31;QD=11.93;SB=-297.47 GT:AD:DP:GL:GQ 0/1:31,32:62:-97.10,-18.68,-109.53:99 -chr1 4705294 rs371605 A G 188.84 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=2.08;MQ=59.55;MQ0=0;OQ=418.07;QD=8.20;SB=-210.35 GT:AD:DP:GL:GQ 0/1:28,23:46:-58.96,-13.87,-104.25:99 -chr1 4705534 rs409048 T C 345.87 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.05;MQ=59.35;MQ0=0;OQ=802.66;QD=12.54;SB=-363.20 GT:AD:DP:GL:GQ 0/1:35,29:64:-102.83,-19.28,-139.39:99 -chr1 4706241 rs368808 A G 17.45 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=2;HaplotypeScore=4.09;MQ=59.49;MQ0=0;OQ=756.36;QD=9.22;SB=-230.86 GT:AD:DP:GL:GQ 0/1:48,34:80:-103.04,-24.12,-189.26:99 -chr1 4707706 rs368940 A G 105.39 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=599.08;QD=17.12;SB=-212.56 GT:AD:DP:GL:GQ 0/1:14,21:35:-73.73,-10.54,-57.28:99 -chr1 4707911 . C A 31.90 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=13;HaplotypeScore=26.77;MQ=58.47;MQ0=0;QD=0.52;SB=52.91 GT:AD:DP:GL:GQ 0/1:52,9:48:-20.93,-14.46,-146.08:64.73 -chr1 4708314 rs2802721 G A 450.84 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=56.44;MQ0=0;OQ=981.54;QD=15.34;SB=-489.03 GT:AD:DP:GL:GQ 0/1:28,36:59:-119.22,-17.78,-99.55:99 -chr1 4708405 rs394808 C A 233.49 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.96;MQ=56.69;MQ0=0;OQ=782.76;QD=14.77;SB=-324.34 GT:AD:DP:GL:GQ 0/1:26,27:51:-96.92,-15.37,-78.87:99 -chr1 4708536 rs395145 C T 383.51 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1269.10;QD=19.83;SB=-521.54 GT:AD:DP:GL:GQ 0/1:25,39:63:-149.18,-18.98,-84.36:99 -chr1 4708674 rs4654602 A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=69.80;MQ=46.48;MQ0=0;OQ=293.59;QD=4.19;SB=-93.14 GT:AD:DP:GL:GQ 0/1:56,14:66:-52.53,-19.89,-198.60:99 -chr1 4708678 rs406913 A G 32.76 DPFilter;LowQual AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=20.07;MQ=45.13;MQ0=0;QD=0.48;SB=9.87 GT:AD:DP:GL:GQ 0/1:59,9:58:-24.04,-17.48,-194.48:65.59 -chr1 4708830 rs433427 A G 13.73 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=6.55;MQ=59.08;MQ0=0;OQ=748.71;QD=10.55;SB=-350.04 GT:AD:DP:GL:GQ 0/1:40,31:70:-99.25,-21.09,-163.31:99 -chr1 4708980 rs2802720 C T 373.55 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=55.41;MQ0=0;OQ=1008.97;QD=15.29;SB=-359.05 GT:AD:DP:GL:GQ 0/1:35,31:66:-124.06,-19.88,-124.56:99 -chr1 4710412 rs364642 C T 180.53 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=3.52;MQ=58.91;MQ0=0;OQ=814.43;QD=13.57;SB=-402.86 GT:AD:DP:GL:GQ 0/1:32,28:58:-102.20,-17.48,-113.74:99 -chr1 4712675 rs381240 A G 265.51 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=57.93;MQ0=0;OQ=805.26;QD=10.19;SB=-382.86 GT:AD:DP:GL:GQ 0/1:44,35:76:-106.72,-22.91,-172.59:99 -chr1 4712931 rs448221 T C 105.17 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=0;HaplotypeScore=3.03;MQ=56.15;MQ0=0;OQ=384.09;QD=10.38;SB=-115.63 GT:AD:DP:GL:GQ 0/1:18,19:34:-51.95,-10.25,-67.62:99 -chr1 4712934 rs431884 C T 132.31 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=3.03;MQ=56.04;MQ0=0;OQ=441.73;QD=12.27;SB=-157.22 GT:AD:DP:GL:GQ 0/1:18,18:33:-57.41,-9.95,-59.19:99 -chr1 4712975 rs380239 A G 454.99 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=55.78;MQ0=0;OQ=728.95;QD=12.57;SB=-369.58 GT:AD:DP:GL:GQ 0/1:31,26:56:-93.05,-16.87,-121.44:99 -chr1 4713977 rs434474 A T 435.77 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.38;MQ0=0;OQ=788.95;QD=11.78;SB=-384.44 GT:AD:DP:GL:GQ 0/1:40,27:64:-101.46,-19.28,-136.23:99 -chr1 4714260 rs428001 G A 188.72 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.64;MQ0=0;OQ=394.17;QD=7.58;SB=-208.83 GT:AD:DP:GL:GQ 0/1:37,15:47:-56.86,-14.16,-117.42:99 -chr1 4714368 rs413383 G C 359.15 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=902.57;QD=15.56;SB=-389.66 GT:AD:DP:GL:GQ 0/1:30,28:56:-110.43,-16.89,-123.48:99 -chr1 4714807 rs401110 C T 341.51 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=642.13;QD=13.96;SB=-230.50 GT:AD:DP:GL:GQ 0/1:24,21:44:-80.76,-13.26,-78.68:99 -chr1 4715337 rs434504 G A 250 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.39;MQ0=0;OQ=582.19;QD=15.32;SB=-195.19 GT:AD:DP:GL:GQ 0/1:19,19:36:-72.35,-10.85,-57.76:99 -chr1 4718265 rs423796 G A 245.56 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=2.32;MQ=58.44;MQ0=0;OQ=1032.37;QD=16.92;SB=-496.08 GT:AD:DP:GL:GQ 0/1:28,33:59:-124.29,-17.77,-98.91:99 -chr1 4718977 rs41511844 A C 15.67 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=3;HaplotypeScore=0.79;MQ=59.53;MQ0=0;OQ=807.51;QD=16.48;SB=-276.90 GT:AD:DP:GL:GQ 0/1:21,28:49:-98.80,-14.76,-77.17:99 -chr1 4719527 rs523141 G A 331.15 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.63;MQ0=1;OQ=362.25;QD=9.29;SB=-60.24 GT:AD:DP:GL:GQ 0/1:25,14:36:-50.35,-10.84,-83.10:99 -chr1 4719663 rs368420 T C 450.85 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=60.00;MQ0=0;OQ=1132.30;QD=16.90;SB=-528.33 GT:AD:DP:GL:GQ 0/1:29,38:66:-136.39,-19.88,-119.33:99 -chr1 4720200 rs34125417 T A 155.86 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=3.33;MQ=59.59;MQ0=0;OQ=796.97;QD=13.51;SB=-224.76 GT:AD:DP:GL:GQ 0/1:29,29:54:-99.25,-16.27,-103.01:99 -chr1 4720659 rs397559 C T 380.37 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.71;MQ0=0;OQ=1207.74;QD=18.87;SB=-534.79 GT:AD:DP:GL:GQ 0/1:27,37:63:-143.05,-18.99,-86.17:99 -chr1 4721157 rs443850 C T 216.92 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=4.76;MQ=59.51;MQ0=0;OQ=1138.02;QD=14.97;SB=-525.69 GT:AD:DP:GL:GQ 0/1:42,34:73:-139.07,-21.99,-142.33:99 -chr1 4721448 rs9426481 G T 366.43 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=988.26;QD=14.53;SB=-519.87 GT:AD:DP:GL:GQ 0/1:35,33:67:-122.29,-20.18,-120.50:99 -chr1 4722600 rs742245 A C 591.38 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=1064.86;QD=15.00;SB=-554.90 GT:AD:DP:GL:GQ 0/1:34,37:68:-130.25,-20.48,-117.18:99 -chr1 4722971 rs760815 C A 224.06 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=59.29;MQ0=0;OQ=950.16;QD=16.10;SB=-349.23 GT:AD:DP:GL:GQ 0/1:26,33:58:-115.77,-17.47,-92.37:99 -chr1 4723061 rs2743978 G A 259.98 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=60.00;MQ0=0;OQ=829.12;QD=15.07;SB=-390.87 GT:AD:DP:GL:GQ 0/1:28,27:53:-102.17,-15.97,-92.75:99 -chr1 4723683 rs411832 G C 0.53 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.02;HRun=0;HaplotypeScore=12.73;MQ=59.54;MQ0=0;OQ=809.82;QD=16.20;SB=-394.90 GT:AD:DP:GL:GQ 0/1:25,24:48:-98.44,-14.17,-99.99:99 -chr1 4723923 rs425005 C A 167.26 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=2;HaplotypeScore=0.89;MQ=59.70;MQ0=0;OQ=997.52;QD=16.09;SB=-361.25 GT:AD:DP:GL:GQ 0/1:28,34:61:-121.41,-18.38,-98.67:99 -chr1 4724602 rs424723 C T 274.96 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.39;MQ0=0;OQ=1215.08;QD=19.92;SB=-584.11 GT:AD:DP:GL:GQ 0/1:24,36:58:-142.27,-17.47,-75.15:99 -chr1 4725012 rs2743979 G A 336.31 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=59.68;MQ0=0;OQ=1008.07;QD=17.38;SB=-481.48 GT:AD:DP:GL:GQ 0/1:28,30:57:-121.27,-17.17,-91.06:99 -chr1 4725752 rs57646199 C T 319.32 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.67;MQ0=0;OQ=1002.06;QD=17.89;SB=-467.46 GT:AD:DP:GL:GQ 0/1:26,30:56:-120.36,-16.87,-93.54:99 -chr1 4725910 rs2802717 C T 220.45 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=59.68;MQ0=0;OQ=1230.52;QD=17.09;SB=-300.80 GT:AD:DP:GL:GQ 0/1:35,36:70:-147.42,-21.09,-124.52:99 -chr1 4725964 rs2802716 C A 41.54 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=4;HaplotypeScore=0.93;MQ=59.48;MQ0=0;OQ=1484.28;QD=18.55;SB=-734.49 GT:AD:DP:GL:GQ 0/1:32,48:80:-175.81,-24.10,-113.80:99 -chr1 4726365 rs9426502 G A 127.06 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=59.67;MQ0=0;OQ=1140.71;QD=16.53;SB=-410.70 GT:AD:DP:GL:GQ 0/1:35,34:69:-138.14,-20.78,-128.81:99 -chr1 4726520 rs2743980 G A 355.47 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=1.45;MQ=59.68;MQ0=0;OQ=913.23;QD=12.68;SB=-432.39 GT:AD:DP:GL:GQ 0/1:43,29:72:-116.30,-21.69,-156.11:99 -chr1 4726900 rs7548728 G A 477.89 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=780.16;QD=13.69;SB=-340.47 GT:AD:DP:GL:GQ 0/1:32,25:55:-97.88,-16.58,-97.83:99 -chr1 4727923 rs426095 G A 378.93 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.64;MQ0=0;OQ=878.95;QD=13.73;SB=-378.83 GT:AD:DP:GL:GQ 0/1:36,28:61:-109.56,-18.38,-120.39:99 -chr1 4728243 rs396629 C T 353.19 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.62;MQ0=0;OQ=1145.27;QD=18.77;SB=-564.43 GT:AD:DP:GL:GQ 0/1:27,34:61:-136.20,-18.39,-85.13:99 -chr1 4728440 . G A 47.68 PASS AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=2.39;MQ=58.84;MQ0=0;OQ=1100.89;QD=19.66;SB=-554.66 GT:AD:DP:GL:GQ 0/1:23,33:56:-130.25,-16.88,-72.13:99 -chr1 4730266 rs410413 T C 266.24 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=57.84;MQ0=0;OQ=500.27;QD=10.01;SB=-265.95 GT:AD:DP:GL:GQ 0/1:25,25:45:-66.88,-13.57,-94.91:99 -chr1 4730269 rs410414 T C 250.89 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=57.08;MQ0=0;OQ=462.87;QD=9.85;SB=-198.61 GT:AD:DP:GL:GQ 0/1:25,22:45:-63.14,-13.57,-96.77:99 -chr1 4730645 rs395467 A G 11.96 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=4.91;MQ=52.28;MQ0=0;OQ=653.20;QD=9.90;SB=-279.13 GT:AD:DP:GL:GQ 0/1:38,27:64:-87.89,-19.29,-148.52:99 -chr1 4730689 rs9426503 G C 129.77 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=1.89;MQ=56.81;MQ0=0;OQ=1027.62;QD=14.27;SB=-322.37 GT:AD:DP:GL:GQ 0/1:41,31:67:-126.24,-20.20,-160.02:99 -chr1 4730760 rs9426483 C T 334.33 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.53;MQ=58.90;MQ0=0;OQ=750.53;QD=13.65;SB=-332.36 GT:AD:DP:GL:GQ 0/1:31,24:54:-94.60,-16.27,-107.97:99 -chr1 4730936 rs423285 C T 421.63 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.90;MQ=56.95;MQ0=0;OQ=670.76;QD=11.37;SB=-300.79 GT:AD:DP:GL:GQ 0/1:33,25:55:-86.95,-16.59,-101.75:99 -chr1 4730990 rs395508 G A 57.05 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=2.76;MQ=59.27;MQ0=0;OQ=529.54;QD=9.29;SB=-260.10 GT:AD:DP:GL:GQ 0/1:38,19:53:-72.20,-15.97,-127.10:99 -chr1 4731053 rs418045 T C 525.89 PASS AC=1;AF=0.50;AN=2;DB;DP=46;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=529.19;QD=11.50;SB=-290.44 GT:AD:DP:GL:GQ 0/1:26,20:45:-69.76,-13.55,-105.89:99 -chr1 4731180 rs396112 G A 318.68 PASS AC=1;AF=0.50;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=740.76;QD=17.64;SB=-379.17 GT:AD:DP:GL:GQ 0/1:19,23:39:-89.12,-11.76,-51.25:99 -chr1 4731341 rs406847 A G 411.20 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.80;MQ0=0;OQ=513.60;QD=14.67;SB=-259.91 GT:AD:DP:GL:GQ 0/1:17,18:35:-65.19,-10.54,-67.57:99 -chr1 4731471 rs428580 C T 186.08 PASS AC=1;AF=0.50;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=867.64;QD=20.18;SB=-459.01 GT:AD:DP:GL:GQ 0/1:17,26:42:-102.70,-12.65,-55.85:99 -chr1 4731684 rs407301 C T 107.33 PASS AC=1;AF=0.50;AN=2;DB;DP=34;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=57.23;MQ0=0;OQ=697.47;QD=20.51;SB=-327.88 GT:AD:DP:GL:GQ 0/1:12,22:33:-82.98,-9.95,-39.91:99 -chr1 4732014 . T A 875.95 Indel AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=12.12;MQ=51.16;MQ0=0;QD=14.13;SB=-350.44 GT:AD:DP:GL:GQ 0/1:31,31:60:-108.95,-18.08,-110.80:99 -chr1 4732015 . T A 970.99 Indel AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=9;HaplotypeScore=12.28;MQ=51.00;MQ0=0;QD=15.92;SB=-364.45 GT:AD:DP:GL:GQ 0/1:29,32:58:-117.85,-17.47,-98.32:99 -chr1 4733241 rs414434 G C 239.58 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1334.69;QD=20.22;SB=-556.62 GT:AD:DP:GL:GQ 0/1:28,38:63:-155.75,-19.00,-107.17:99 -chr1 4734056 rs9426504 G A 5.32 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=4;HaplotypeScore=2.44;MQ=58.18;MQ0=0;OQ=895.74;QD=16.59;SB=-312.82 GT:AD:DP:GL:GQ 0/1:25,29:51:-108.23,-15.38,-75.31:99 -chr1 4734062 rs451162 G C 249.29 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=2.31;MQ=58.57;MQ0=0;OQ=977.80;QD=18.80;SB=-417.05 GT:AD:DP:GL:GQ 0/1:24,28:49:-115.83,-14.77,-93.28:99 -chr1 4734089 rs388631 T C 200.06 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.48;MQ=59.01;MQ0=0;OQ=598.20;QD=12.73;SB=-188.41 GT:AD:DP:GL:GQ 0/1:21,25:44:-76.37,-13.27,-78.74:99 -chr1 4734466 rs389959 T C 132.65 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.40;MQ=60.00;MQ0=0;OQ=323.31;QD=6.22;SB=-138.87 GT:AD:DP:GL:GQ 0/1:33,18:48:-50.08,-14.47,-128.38:99 -chr1 4734711 rs397852 T C 337.97 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=1.07;MQ=60.00;MQ0=0;OQ=458.03;QD=9.35;SB=-228.25 GT:AD:DP:GL:GQ 0/1:29,20:49:-63.86,-14.77,-115.16:99 -chr1 4735235 rs399377 T C 222.18 PASS AC=1;AF=0.50;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=339.75;QD=9.71;SB=-124.62 GT:AD:DP:GL:GQ 0/1:21,14:33:-47.20,-9.94,-76.89:99 -chr1 4735981 rs394594 A G 305.79 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.38;MQ0=0;OQ=773.72;QD=10.46;SB=-332.92 GT:AD:DP:GL:GQ 0/1:41,33:73:-102.66,-22.01,-163.48:99 -chr1 4738101 rs414909 C T 441.62 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=1084.42;QD=16.19;SB=-452.94 GT:AD:DP:GL:GQ 0/1:35,32:67:-131.91,-20.18,-129.56:99 -chr1 4738908 rs381304 A G 65.84 PASS AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=2;HaplotypeScore=2.37;MQ=58.77;MQ0=0;OQ=1458.03;QD=16.76;SB=-529.55 GT:AD:DP:GL:GQ 0/1:36,51:84:-174.40,-25.31,-140.93:99 -chr1 4739028 rs392984 T C 105.21 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=5.08;MQ=58.80;MQ0=0;OQ=588.16;QD=10.14;SB=-181.39 GT:AD:DP:GL:GQ 0/1:30,28:53:-78.07,-15.97,-115.29:99 -chr1 4739512 rs2802719 A G 384.48 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.81;MQ0=0;OQ=757.23;QD=14.85;SB=-244.45 GT:AD:DP:GL:GQ 0/1:23,28:48:-93.47,-14.47,-78.98:99 -chr1 4739710 rs2802718 G C 11.18 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=3;HaplotypeScore=0.83;MQ=56.67;MQ0=0;OQ=1199.49;QD=18.74;SB=-370.48 GT:AD:DP:GL:GQ 0/1:31,33:60:-141.32,-18.09,-113.09:99 -chr1 4740018 rs7544523 T C 161.93 PASS AC=1;AF=0.50;AN=2;DB;DP=36;Dels=0.00;HRun=0;HaplotypeScore=2.09;MQ=58.16;MQ0=0;OQ=429.98;QD=11.94;SB=-175.51 GT:AD:DP:GL:GQ 0/1:18,18:35:-56.83,-10.55,-68.38:99 -chr1 4744236 rs9426506 C T 327.10 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=3.29;MQ=58.57;MQ0=0;OQ=856.13;QD=13.81;SB=-428.92 GT:AD:DP:GL:GQ 0/1:35,27:62:-107.57,-18.68,-125.85:99 -chr1 4744972 rs9426484 G A 347.64 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=59.65;MQ0=0;OQ=799.48;QD=12.30;SB=-407.88 GT:AD:DP:GL:GQ 0/1:38,27:60:-101.32,-18.09,-111.41:99 -chr1 4745752 rs6426434 G A 271.15 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=60.00;MQ0=0;OQ=1169.68;QD=19.49;SB=-538.80 GT:AD:DP:GL:GQ 0/1:24,36:57:-137.43,-17.18,-72.34:99 -chr1 4747705 rs4654460 G A 332.93 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=755.91;QD=18.90;SB=-379.91 GT:AD:DP:GL:GQ 0/1:17,23:38:-90.34,-11.46,-46.09:99 -chr1 4748668 rs12133924 A G 455.19 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=60.00;MQ0=0;OQ=1019.13;QD=13.07;SB=-468.04 GT:AD:DP:GL:GQ 0/1:42,36:77:-128.39,-23.20,-162.75:99 -chr1 4748969 rs6701069 A G 376.11 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.72;MQ0=0;OQ=1003.27;QD=12.39;SB=-469.20 GT:AD:DP:GL:GQ 0/1:46,35:80:-127.71,-24.10,-182.44:99 -chr1 4749244 rs2235438 T C 581.54 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.73;MQ0=0;OQ=891.88;QD=13.12;SB=-467.00 GT:AD:DP:GL:GQ 0/1:32,36:65:-112.06,-19.59,-124.79:99 -chr1 4750683 rs909757 T C 410.80 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=58.22;MQ0=0;OQ=683.00;QD=11.78;SB=-347.56 GT:AD:DP:GL:GQ 0/1:31,27:55:-88.15,-16.57,-119.32:99 -chr1 4751405 rs17345239 T G 179.05 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=774.24;QD=13.12;SB=-344.85 GT:AD:DP:GL:GQ 0/1:30,29:56:-97.57,-16.87,-106.85:99 -chr1 4753272 rs742246 A C 355.98 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=617.26;QD=14.03;SB=-196.34 GT:AD:DP:GL:GQ 0/1:21,23:43:-77.96,-12.95,-77.17:99 -chr1 4753548 rs932350 T C 408.09 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.22;MQ0=0;OQ=924.37;QD=14.22;SB=-295.30 GT:AD:DP:GL:GQ 0/1:29,36:64:-115.01,-19.29,-116.32:99 -chr1 4753607 rs12082538 G C 138.47 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=3.84;MQ=60.48;MQ0=0;OQ=606.35;QD=13.47;SB=-132.52 GT:AD:DP:GL:GQ 0/1:25,20:43:-76.88,-12.96,-107.57:99 -chr1 4753770 rs7519688 C T 2.09 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=3;HaplotypeScore=5.33;MQ=59.09;MQ0=0;OQ=802.41;QD=15.73;SB=-282.79 GT:AD:DP:GL:GQ 0/1:25,26:48:-97.99,-14.47,-73.03:99 -chr1 4755384 rs727906 C T 371.77 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.67;MQ=60.00;MQ0=0;OQ=954.50;QD=12.40;SB=-422.82 GT:AD:DP:GL:GQ 0/1:47,30:76:-121.64,-22.91,-153.23:99 -chr1 4756029 rs2411946 T A 426.26 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.59;MQ0=0;OQ=610.43;QD=13.57;SB=-308.69 GT:AD:DP:GL:GQ 0/1:23,22:44:-77.58,-13.26,-87.22:99 -chr1 4756791 rs760816 A G 307.58 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=2.08;MQ=60.00;MQ0=0;OQ=644.43;QD=11.51;SB=-270.35 GT:AD:DP:GL:GQ 0/1:29,27:54:-84.00,-16.27,-113.95:99 -chr1 4758251 . A G 4.99 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=3;HaplotypeScore=0.95;MQ=59.34;MQ0=1;OQ=796.90;QD=10.77;SB=-383.18 GT:AD:DP:GL:GQ 0/1:42,32:64:-102.26,-19.28,-139.02:99 -chr1 4758268 rs4654606 T G 84.96 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=4.06;MQ=59.35;MQ0=0;OQ=681.65;QD=10.65;SB=-311.85 GT:AD:DP:GL:GQ 0/1:38,26:61:-89.83,-18.38,-124.54:99 -chr1 4759471 rs2142949 C T 488.93 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=986.38;QD=17.01;SB=-326.41 GT:AD:DP:GL:GQ 0/1:27,31:57:-119.09,-17.17,-96.06:99 -chr1 4761020 rs4654607 C T 187.79 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.53;MQ0=0;OQ=1317.32;QD=16.67;SB=-650.17 GT:AD:DP:GL:GQ 0/1:40,39:77:-158.21,-23.19,-137.71:99 -chr1 4763236 rs2064168 C T 278.30 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.92;MQ=60.00;MQ0=0;OQ=1185.65;QD=19.12;SB=-513.73 GT:AD:DP:GL:GQ 0/1:25,37:60:-139.92,-18.08,-90.33:99 -chr1 4763773 rs760817 T C 455.12 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.94;MQ=59.11;MQ0=0;OQ=932.67;QD=12.78;SB=-440.55 GT:AD:DP:GL:GQ 0/1:40,33:73:-118.54,-21.99,-163.26:99 -chr1 4764845 rs10915606 A G 585.97 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1075.05;QD=14.15;SB=-528.93 GT:AD:DP:GL:GQ 0/1:37,39:74:-133.08,-22.29,-148.56:99 -chr1 4765718 rs10429868 G A 452.05 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=60.00;MQ0=0;OQ=1155.78;QD=15.62;SB=-602.60 GT:AD:DP:GL:GQ 0/1:39,35:74:-141.15,-22.29,-141.78:99 -chr1 4766001 rs12022466 T A 597.92 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1259.06;QD=15.94;SB=-558.66 GT:AD:DP:GL:GQ 0/1:39,40:79:-152.98,-23.79,-151.51:99 -chr1 4766045 . G A 13.96 PASS AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=2;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=1207.52;QD=14.55;SB=-582.08 GT:AD:DP:GL:GQ 0/1:47,36:81:-148.43,-24.40,-164.42:99 -chr1 4766280 rs12752806 G T 477.99 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.50;MQ0=0;OQ=1250.24;QD=15.06;SB=-480.84 GT:AD:DP:GL:GQ 0/1:42,41:81:-152.70,-24.39,-146.62:99 -chr1 4767409 rs7534770 A T 437.84 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=1042.20;QD=14.28;SB=-531.39 GT:AD:DP:GL:GQ 0/1:39,34:72:-129.19,-21.69,-145.29:99 -chr1 4767544 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=6;HaplotypeScore=47.32;MQ=56.17;MQ0=2;OQ=190.67;QD=2.98;SB=86.31 GT:AD:DP:GL:GQ 0/1:48,16:57:-39.52,-17.17,-173.24:99 -chr1 4769118 rs10915610 A C 208.85 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=4.78;MQ=58.87;MQ0=0;OQ=1164.63;QD=14.93;SB=-551.67 GT:AD:DP:GL:GQ 0/1:37,39:77:-145.10,-25.36,-142.76:99 -chr1 4770972 . C A 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=59;Dels=0.00;HRun=2;HaplotypeScore=8.28;MQ=56.35;MQ0=0;OQ=111.37;QD=1.89;SB=65.23 GT:AD:DP:GL:GQ 0/1:35,24:40:-26.47,-12.05,-113.84:99 -chr1 4771531 rs1118009 A G 323.35 PASS AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=1.82;MQ=56.74;MQ0=0;OQ=1333.25;QD=15.32;SB=-605.42 GT:AD:DP:GL:GQ 0/1:38,49:86:-162.53,-25.92,-151.96:99 -chr1 4771617 rs1118010 C T 407.70 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=60.00;MQ0=0;OQ=1431.00;QD=18.58;SB=-550.33 GT:AD:DP:GL:GQ 0/1:34,43:77:-169.58,-23.20,-123.43:99 -chr1 4772431 rs10799262 G A 68.65 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=2;HaplotypeScore=0.32;MQ=59.76;MQ0=0;OQ=1610.76;QD=20.65;SB=-755.30 GT:AD:DP:GL:GQ 0/1:32,46:78:-187.86,-23.50,-115.14:99 -chr1 4772511 rs10915611 C T 585.75 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.73;MQ0=0;OQ=1219.72;QD=17.42;SB=-547.54 GT:AD:DP:GL:GQ 0/1:34,36:70:-146.34,-21.08,-121.82:99 -chr1 4772916 rs10915612 A G 195.17 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=58.68;MQ0=0;OQ=1058.43;QD=15.80;SB=-539.98 GT:AD:DP:GL:GQ 0/1:30,37:67:-129.31,-20.19,-122.36:99 -chr1 4773270 rs7540367 G A 242.80 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.44;MQ0=0;OQ=792.22;QD=13.66;SB=-213.92 GT:AD:DP:GL:GQ 0/1:33,25:57:-99.68,-17.18,-105.56:99 -chr1 4773658 . G A 112.25 PASS AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=58.50;MQ0=0;OQ=985.30;QD=17.59;SB=-495.06 GT:AD:DP:GL:GQ 0/1:26,30:55:-118.38,-16.57,-94.83:99 -chr1 4773754 rs12120205 T A 372.54 PASS AC=1;AF=0.50;AN=2;DB;DP=98;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=60.00;MQ0=0;OQ=1585.82;QD=16.18;SB=-556.42 GT:AD:DP:GL:GQ 0/1:49,49:98:-191.38,-29.51,-188.67:99 -chr1 4774287 rs10799263 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=7;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1045.47;QD=15.84;SB=-449.52 GT:AD:DP:GL:GQ 0/1:30,36:65:-127.41,-19.58,-109.32:99 -chr1 4774365 rs10915613 G A 361.24 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1223.17;QD=16.31;SB=-630.64 GT:AD:DP:GL:GQ 0/1:38,37:73:-147.61,-22.01,-118.37:99 -chr1 4776755 rs12145180 C G 356.13 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=2.24;MQ=59.64;MQ0=0;OQ=975.57;QD=15.24;SB=-415.28 GT:AD:DP:GL:GQ 0/1:32,32:62:-119.54,-18.70,-139.99:99 -chr1 4776903 rs10915615 C A 330.11 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=59.69;MQ0=0;OQ=909.18;QD=12.12;SB=-404.10 GT:AD:DP:GL:GQ 0/1:43,32:72:-115.90,-21.70,-128.82:99 -chr1 4777460 rs12118812 T G 167.49 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.73;MQ0=0;OQ=842.15;QD=11.86;SB=-431.75 GT:AD:DP:GL:GQ 0/1:41,30:70:-108.58,-21.08,-144.58:99 -chr1 4777525 rs12118818 T G 101.66 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=2;HaplotypeScore=1.33;MQ=59.72;MQ0=0;OQ=940.16;QD=13.63;SB=-473.22 GT:AD:DP:GL:GQ 0/1:36,33:67:-117.48,-20.18,-125.31:99 -chr1 4777535 rs12143219 G T 70.17 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=4;HaplotypeScore=0.27;MQ=60.00;MQ0=0;OQ=1005.40;QD=15.47;SB=-447.46 GT:AD:DP:GL:GQ 0/1:32,33:65:-123.40,-19.58,-114.32:99 -chr1 4778731 rs1120120 C T 347.86 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=1.94;MQ=59.78;MQ0=0;OQ=1277.01;QD=15.02;SB=-471.94 GT:AD:DP:GL:GQ 0/1:47,38:84:-156.28,-25.30,-171.76:99 -chr1 4780340 rs10915616 C T 196.28 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=881.43;QD=16.95;SB=-113.96 GT:AD:DP:GL:GQ 0/1:26,26:52:-107.09,-15.66,-92.07:99 -chr1 4780435 rs12121890 T C 347.71 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.79;MQ=59.73;MQ0=0;OQ=1105.50;QD=16.26;SB=-426.60 GT:AD:DP:GL:GQ 0/1:30,38:67:-134.02,-20.18,-117.11:99 -chr1 4781127 rs12122126 T C 314.12 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=58.69;MQ0=0;OQ=674.99;QD=13.50;SB=-298.62 GT:AD:DP:GL:GQ 0/1:26,24:49:-85.54,-14.76,-106.72:99 -chr1 4781899 rs12117810 G A 242.85 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=58.88;MQ0=0;OQ=1031.36;QD=17.78;SB=-437.45 GT:AD:DP:GL:GQ 0/1:28,30:56:-123.30,-16.88,-83.86:99 -chr1 4782182 rs10915619 A T 438.63 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=58.65;MQ0=0;OQ=1009.97;QD=12.47;SB=-431.43 GT:AD:DP:GL:GQ 0/1:47,34:80:-128.38,-24.10,-172.98:99 -chr1 4782516 rs1883345 G A 146.28 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=59.45;MQ0=0;OQ=906.47;QD=11.93;SB=-338.27 GT:AD:DP:GL:GQ 0/1:44,32:71:-115.32,-21.39,-152.63:99 -chr1 4782885 rs1883346 T A 397.96 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.70;MQ=58.75;MQ0=0;OQ=1064.02;QD=14.99;SB=-456.50 GT:AD:DP:GL:GQ 0/1:37,34:70:-130.77,-21.08,-141.61:99 -chr1 4782955 rs1883347 T C 221.56 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=4.24;MQ=59.50;MQ0=0;OQ=856.09;QD=11.57;SB=-450.96 GT:AD:DP:GL:GQ 0/1:43,30:73:-110.88,-21.99,-176.74:99 -chr1 4783491 rs4654610 T C 960.35 Indel AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=11.46;MQ=47.61;MQ0=0;QD=14.12;SB=-407.25 GT:AD:DP:GL:GQ 0/1:31,37:63:-118.30,-18.98,-112.03:99 -chr1 4793106 rs61766789 G A 240.39 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=2.34;MQ=58.98;MQ0=1;OQ=1230.74;QD=17.33;SB=-554.58 GT:AD:DP:GL:GQ 0/1:35,36:69:-147.14,-20.78,-120.71:99 -chr1 4794663 . C T 274.23 PASS AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.43;MQ0=0;OQ=833.44;QD=12.63;SB=-440.37 GT:AD:DP:GL:GQ 0/1:40,26:66:-106.51,-19.88,-144.25:99 -chr1 4794952 rs12074481 C A 271.91 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=57.82;MQ0=0;OQ=1066.30;QD=15.02;SB=-452.97 GT:AD:DP:GL:GQ 0/1:33,38:69:-130.70,-20.79,-110.83:99 -chr1 4798693 rs7522386 A G 341.25 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=1.98;MQ=58.39;MQ0=0;OQ=1056.56;QD=15.77;SB=-495.12 GT:AD:DP:GL:GQ 0/1:31,36:65:-128.52,-19.58,-122.92:99 -chr1 4801597 rs7527319 C A 582.07 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=923.07;QD=13.78;SB=-344.17 GT:AD:DP:GL:GQ 0/1:34,33:66:-115.47,-19.88,-121.89:99 -chr1 4806096 rs7547779 T C 457.63 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=58.53;MQ0=0;OQ=897.02;QD=13.39;SB=-364.21 GT:AD:DP:GL:GQ 0/1:34,33:65:-112.57,-19.58,-135.93:99 -chr1 4807563 rs11582327 T C 467.91 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.73;MQ0=0;OQ=911.00;QD=13.40;SB=-422.86 GT:AD:DP:GL:GQ 0/1:32,36:67:-114.58,-20.19,-127.73:99 -chr1 4807672 rs7536960 T C 326.99 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=60.00;MQ0=0;OQ=720.71;QD=12.64;SB=-286.29 GT:AD:DP:GL:GQ 0/1:27,30:55:-91.93,-16.58,-105.91:99 -chr1 4808516 rs6669130 G A 323.43 PASS AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=1.64;MQ=59.98;MQ0=0;OQ=1529.46;QD=17.58;SB=-724.76 GT:AD:DP:GL:GQ 0/1:42,45:83:-181.23,-25.00,-146.35:99 -chr1 4808719 . T G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=2;HaplotypeScore=4.69;MQ=58.91;MQ0=0;OQ=57.76;QD=0.90;SB=95.29 GT:AD:DP:GL:GQ 0/1:40,24:48:-23.52,-14.46,-139.84:90.60 -chr1 4808761 rs6683849 A G 156.55 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=737.58;QD=13.17;SB=-272.54 GT:AD:DP:GL:GQ 0/1:30,26:56:-93.91,-16.87,-119.65:99 -chr1 4808953 rs12725011 G A 96.81 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=3;HaplotypeScore=1.25;MQ=59.67;MQ0=0;OQ=1362.18;QD=19.46;SB=-645.68 GT:AD:DP:GL:GQ 0/1:29,41:69:-160.29,-20.79,-101.64:99 -chr1 4808976 rs11582462 A G 74 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=3.61;MQ=59.32;MQ0=0;OQ=923.86;QD=13.59;SB=-481.59 GT:AD:DP:GL:GQ 0/1:33,35:64:-114.94,-19.28,-135.51:99 -chr1 4809567 rs11582936 A C 302.66 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=1.32;MQ=59.67;MQ0=0;OQ=605.80;QD=10.63;SB=-281.94 GT:AD:DP:GL:GQ 0/1:26,30:52:-79.53,-15.67,-97.13:99 -chr1 4809668 rs7543326 T C 173.23 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=2;HaplotypeScore=1.68;MQ=59.71;MQ0=0;OQ=1092.10;QD=13.82;SB=-474.60 GT:AD:DP:GL:GQ 0/1:37,42:79:-136.31,-23.81,-148.02:99 -chr1 4811032 rs6693945 T C 292.95 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=59.41;MQ0=0;OQ=916.53;QD=14.55;SB=-321.25 GT:AD:DP:GL:GQ 0/1:30,31:62:-117.13,-22.19,-125.33:99 -chr1 4811983 rs2209167 G A 414.43 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=59.70;MQ0=0;OQ=1021.76;QD=13.10;SB=-414.40 GT:AD:DP:GL:GQ 0/1:45,33:75:-128.08,-22.62,-135.03:99 -chr1 4813003 rs6426439 C T 133.12 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=3.37;MQ=59.50;MQ0=0;OQ=1367.37;QD=18.48;SB=-705.27 GT:AD:DP:GL:GQ 0/1:34,40:72:-161.71,-21.69,-122.06:99 -chr1 4813419 rs1886113 T G 294.59 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=612.34;QD=12.76;SB=-248.40 GT:AD:DP:GL:GQ 0/1:25,23:47:-78.67,-14.15,-95.57:99 -chr1 4813733 rs10915628 T C 146.41 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=0.97;MQ=60.00;MQ0=0;OQ=870.49;QD=12.26;SB=-270.52 GT:AD:DP:GL:GQ 0/1:41,30:71:-111.72,-21.39,-167.00:99 -chr1 4813800 rs10915631 C T 467.08 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=60.00;MQ0=0;OQ=1109.44;QD=15.20;SB=-509.01 GT:AD:DP:GL:GQ 0/1:39,34:73:-136.22,-21.99,-139.36:99 -chr1 4813826 rs10799266 A G 440.81 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=60.00;MQ0=0;OQ=1025.69;QD=13.50;SB=-528.56 GT:AD:DP:GL:GQ 0/1:40,36:76:-128.75,-22.90,-159.57:99 -chr1 4814770 rs6426440 C A 361.03 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=60.00;MQ0=0;OQ=964.05;QD=12.68;SB=-378.13 GT:AD:DP:GL:GQ 0/1:42,34:76:-122.59,-22.91,-131.06:99 -chr1 4814802 rs6426441 A T 191.96 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=5.04;MQ=59.57;MQ0=0;OQ=882.35;QD=13.17;SB=-416.80 GT:AD:DP:GL:GQ 0/1:37,30:65:-111.10,-19.58,-134.21:99 -chr1 4815146 rs2411949 G T 0.34 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=15.15;MQ=59.31;MQ0=0;OQ=1233.12;QD=16.23;SB=-582.79 GT:AD:DP:GL:GQ 0/1:35,40:72:-148.29,-21.69,-101.37:99 -chr1 4815330 rs6658680 A G 154.72 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=57.17;MQ0=0;OQ=454.29;QD=9.09;SB=-126.50 GT:AD:DP:GL:GQ 0/1:29,21:47:-62.88,-14.17,-108.85:99 -chr1 4815340 rs6692964 G T 169.92 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.65;MQ=56.50;MQ0=0;OQ=607.11;QD=11.90;SB=-203.41 GT:AD:DP:GL:GQ 0/1:29,22:51:-79.35,-15.36,-103.70:99 -chr1 4815344 rs6692966 G A 446.58 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.57;MQ0=0;OQ=669.90;QD=12.88;SB=-297.81 GT:AD:DP:GL:GQ 0/1:28,24:50:-85.35,-15.08,-90.67:99 -chr1 4815634 rs2147028 C A 82.12 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=2;HaplotypeScore=1.79;MQ=59.43;MQ0=0;OQ=1001.39;QD=15.41;SB=-277.32 GT:AD:DP:GL:GQ 0/1:32,33:62:-122.10,-18.67,-102.09:99 -chr1 4815904 rs2209166 G A 117.08 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=60.00;MQ0=0;OQ=1754.50;QD=22.21;SB=-892.01 GT:AD:DP:GL:GQ 0/1:28,51:79:-202.53,-23.80,-99.82:99 -chr1 4816064 rs6693706 G T 446.40 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.64;MQ0=0;OQ=733.52;QD=14.11;SB=-350.37 GT:AD:DP:GL:GQ 0/1:26,26:52:-92.30,-15.67,-93.55:99 -chr1 4816465 rs1535736 C T 112.29 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=1112.33;QD=17.38;SB=-338.80 GT:AD:DP:GL:GQ 0/1:31,33:64:-133.80,-19.28,-110.54:99 -chr1 4816766 rs1535734 A G 420.29 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=908.64;QD=12.62;SB=-359.52 GT:AD:DP:GL:GQ 0/1:39,33:70:-115.23,-21.09,-156.36:99 -chr1 4817101 rs6693352 A G 227.39 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=3.08;MQ=59.68;MQ0=0;OQ=949.71;QD=13.19;SB=-443.55 GT:AD:DP:GL:GQ 0/1:38,34:70:-119.35,-21.09,-147.05:99 -chr1 4817128 rs2898848 G A 216.99 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=59.42;MQ0=0;OQ=1195.65;QD=16.61;SB=-558.57 GT:AD:DP:GL:GQ 0/1:36,36:72:-144.54,-21.69,-131.83:99 -chr1 4817320 rs2209165 C T 145.82 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=59.39;MQ0=0;OQ=1415.52;QD=20.82;SB=-731.10 GT:AD:DP:GL:GQ 0/1:27,41:68:-165.32,-20.49,-90.68:99 -chr1 4817405 rs2209164 A G 118.02 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.63;MQ0=0;OQ=527.84;QD=8.51;SB=-187.44 GT:AD:DP:GL:GQ 0/1:40,22:60:-74.14,-18.07,-157.62:99 -chr1 4817514 rs2209163 G A 238.41 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.72;MQ0=0;OQ=933.49;QD=13.93;SB=-217.50 GT:AD:DP:GL:GQ 0/1:38,29:66:-116.53,-19.90,-117.09:99 -chr1 4817749 rs3938469 A G 107.60 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=486.41;QD=8.11;SB=-117.18 GT:AD:DP:GL:GQ 0/1:41,19:60:-70.00,-18.07,-168.54:99 -chr1 4817969 rs2093769 G A 229.16 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=3.14;MQ=59.44;MQ0=0;OQ=1190.09;QD=14.51;SB=-381.33 GT:AD:DP:GL:GQ 0/1:44,38:79:-146.09,-23.80,-153.77:99 -chr1 4818044 rs2093768 A G 314.22 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.33;MQ0=0;OQ=811.36;QD=13.09;SB=-280.55 GT:AD:DP:GL:GQ 0/1:29,33:61:-102.81,-18.39,-114.06:99 -chr1 4818509 rs10159142 G A 308.93 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.55;MQ=58.95;MQ0=0;OQ=899.59;QD=15.51;SB=-448.42 GT:AD:DP:GL:GQ 0/1:30,28:58:-110.72,-17.47,-107.08:99 -chr1 4818666 rs10799268 T C 278.30 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=59.42;MQ0=0;OQ=887.47;QD=13.87;SB=-404.24 GT:AD:DP:GL:GQ 0/1:33,31:62:-110.70,-18.67,-130.15:99 -chr1 4818872 rs10753387 T C 88.47 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.63;MQ=55.54;MQ0=0;OQ=718.25;QD=13.30;SB=-324.13 GT:AD:DP:GL:GQ 0/1:25,29:53:-91.08,-15.98,-99.45:99 -chr1 4819100 rs10753388 G A 0.17 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=17.64;MQ=55.33;MQ0=0;OQ=1324.27;QD=17.66;SB=-679.33 GT:AD:DP:GL:GQ 0/1:36,39:70:-156.80,-21.09,-111.06:99 -chr1 4819163 rs10753389 A G 70.61 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=49.63;MQ0=1;OQ=764.05;QD=12.53;SB=-256.89 GT:AD:DP:GL:GQ 0/1:33,28:59:-97.46,-17.77,-133.52:99 -chr1 4819348 rs10915632 G A 8.54 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=2;HaplotypeScore=6.46;MQ=58.48;MQ0=0;OQ=1415.77;QD=15.91;SB=-658.28 GT:AD:DP:GL:GQ 0/1:47,42:87:-171.06,-26.20,-164.95:99 -chr1 4819622 rs10799269 C G 347.45 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=59.05;MQ0=0;OQ=934.79;QD=12.98;SB=-429.59 GT:AD:DP:GL:GQ 0/1:41,31:69:-117.56,-20.80,-181.53:99 -chr1 4819655 rs10799270 G A 353.44 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.56;MQ0=0;OQ=1064.88;QD=14.39;SB=-436.38 GT:AD:DP:GL:GQ 0/1:41,33:74:-132.06,-22.29,-148.73:99 -chr1 4819737 rs2147027 T C 200.63 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.22;MQ=55.94;MQ0=0;OQ=778.52;QD=14.69;SB=-321.29 GT:AD:DP:GL:GQ 0/1:25,28:51:-96.50,-15.36,-95.69:99 -chr1 4820060 rs2181701 T C 0.91 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=11.39;MQ=52.25;MQ0=0;OQ=485.51;QD=9.52;SB=-244.48 GT:AD:DP:GL:GQ 0/1:29,22:49:-66.61,-14.77,-110.48:99 -chr1 4820091 rs4265399 G A 243.46 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=50.14;MQ0=0;OQ=512.92;QD=10.06;SB=-45.99 GT:AD:DP:GL:GQ 0/1:32,19:48:-69.05,-14.48,-96.83:99 -chr1 4820096 rs2181700 T G 75.96 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=50.99;MQ0=0;OQ=433.90;QD=8.34;SB=-40.01 GT:AD:DP:GL:GQ 0/1:33,19:51:-62.03,-15.36,-122.01:99 -chr1 4820154 rs9725470 C T 281.54 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=47.90;MQ0=2;OQ=495.62;QD=9.01;SB=-102.52 GT:AD:DP:GL:GQ 0/1:37,18:51:-68.22,-15.38,-108.69:99 -chr1 4820216 rs9726479 T G 79.72 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=1.15;MQ=45.62;MQ0=0;OQ=697.41;QD=12.24;SB=-299.44 GT:AD:DP:GL:GQ 0/1:30,27:55:-89.59,-16.56,-110.14:99 -chr1 4820227 rs9725796 C A 40.52 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=3;HaplotypeScore=0.33;MQ=47.59;MQ0=0;OQ=717.90;QD=11.58;SB=-300.16 GT:AD:DP:GL:GQ 0/1:34,28:59:-92.84,-17.77,-118.69:99 -chr1 4820388 rs9726805 T C 201.46 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=2.98;MQ=51.02;MQ0=0;OQ=985.45;QD=12.17;SB=-457.03 GT:AD:DP:GL:GQ 0/1:42,39:76:-124.72,-22.89,-168.04:99 -chr1 4820748 . A G 1.13 PASS AC=1;AF=0.50;AN=2;DP=50;Dels=0.00;HRun=0;HaplotypeScore=3.54;MQ=35.53;MQ0=6;OQ=268.28;QD=5.37;SB=-1.83 GT:AD:DP:GL:GQ 0/1:28,21:34:-40.35,-10.24,-88.65:99 -chr1 4820850 . T C 0.21 PASS AC=1;AF=0.50;AN=2;DP=27;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=43.66;MQ0=1;OQ=84.14;QD=3.12;SB=-53.32 GT:AD:DP:GL:GQ 0/1:14,12:16:-16.52,-4.83,-39.77:99 -chr1 4820858 . G A 0.93 PASS AC=1;AF=0.50;AN=2;DP=29;Dels=0.00;HRun=0;HaplotypeScore=4.23;MQ=41.11;MQ0=1;OQ=153.45;QD=5.29;SB=-40.65 GT:AD:DP:GL:GQ 0/1:13,15:17:-23.75,-5.12,-38.01:99 -chr1 4820952 rs61766808 C T 152.82 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=38.70;MQ0=1;OQ=409.25;QD=9.09;SB=-225.93 GT:AD:DP:GL:GQ 0/1:30,15:42:-56.86,-12.66,-95.36:99 -chr1 4821240 rs9726227 C T 470.14 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=37.63;MQ0=1;OQ=887.90;QD=12.87;SB=-408.68 GT:AD:DP:GL:GQ 0/1:36,33:62:-110.75,-18.67,-130.57:99 -chr1 4821376 rs9726241 C A 8.68 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=39.07;MQ0=5;OQ=305.92;QD=4.86;SB=-1.55 GT:AD:DP:GL:GQ 0/1:37,26:47:-48.04,-14.16,-121.88:99 -chr1 4821609 rs9726885 A C 47.17 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=36.89;MQ0=14;OQ=448.17;QD=5.67;SB=-207.28 GT:AD:DP:GL:GQ 0/1:47,32:61:-66.47,-18.37,-159.23:99 -chr1 4821773 rs9726925 A G 101.03 PASS AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=38.22;MQ0=2;OQ=859.75;QD=9.35;SB=-417.48 GT:AD:DP:GL:GQ 0/1:47,45:74:-111.55,-22.29,-173.37:99 -chr1 4821818 rs12135318 C A 320.75 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=44.85;MQ0=0;OQ=1111.50;QD=12.21;SB=-470.83 GT:AD:DP:GL:GQ 0/1:41,50:79:-138.22,-23.79,-149.34:99 -chr1 4821875 rs10915634 A G 55.48 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=46.72;MQ0=5;OQ=657.16;QD=7.64;SB=-166.48 GT:AD:DP:GL:GQ 0/1:46,40:75:-91.61,-22.61,-188.45:99 -chr1 4822060 rs7411909 A G 472.44 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.58;MQ0=0;OQ=844.08;QD=14.07;SB=-331.93 GT:AD:DP:GL:GQ 0/1:31,29:60:-105.77,-18.08,-125.13:99 -chr1 4822115 rs4617370 G A 221.57 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=59.00;MQ0=0;OQ=1387.37;QD=17.13;SB=-675.38 GT:AD:DP:GL:GQ 0/1:40,41:81:-166.44,-24.42,-127.76:99 -chr1 4822681 rs6660173 C T 0.10 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.01;HRun=3;HaplotypeScore=10.96;MQ=52.45;MQ0=0;OQ=1014.70;QD=13.71;SB=-426.92 GT:AD:DP:GL:GQ 0/1:42,31:73:-126.44,-21.69,-150.88:99 -chr1 4822687 rs6660177 C A 163.11 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=4.00;MQ=52.56;MQ0=0;OQ=900.97;QD=12.01;SB=-430.11 GT:AD:DP:GL:GQ 0/1:44,31:74:-115.67,-22.28,-156.45:99 -chr1 4822710 rs6668068 T C 72.65 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=2.96;MQ=50.82;MQ0=0;OQ=906.69;QD=11.78;SB=-477.93 GT:AD:DP:GL:GQ 0/1:44,33:75:-116.54,-22.59,-176.01:99 -chr1 4822958 rs6665282 A G 464.18 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.16;MQ0=0;OQ=785.44;QD=13.78;SB=-331.28 GT:AD:DP:GL:GQ 0/1:30,27:57:-99.00,-17.17,-122.67:99 -chr1 4823049 rs6665388 A G 56.61 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=2.47;MQ=55.61;MQ0=0;OQ=907.22;QD=12.60;SB=-445.14 GT:AD:DP:GL:GQ 0/1:36,36:67:-114.19,-20.18,-139.94:99 -chr1 4823137 rs12087020 A G 358.36 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=54.38;MQ0=0;OQ=1125.73;QD=15.86;SB=-588.93 GT:AD:DP:GL:GQ 0/1:32,39:69:-136.64,-20.78,-130.19:99 -chr1 4823207 rs10915638 C T 285.22 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=57.74;MQ0=0;OQ=1338.14;QD=15.93;SB=-487.03 GT:AD:DP:GL:GQ 0/1:44,40:82:-161.79,-24.70,-152.84:99 -chr1 4823247 rs10915639 C T 70.93 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=3;HaplotypeScore=1.40;MQ=59.24;MQ0=0;OQ=1272.31;QD=17.19;SB=-602.12 GT:AD:DP:GL:GQ 0/1:37,37:73:-152.51,-22.00,-119.03:99 -chr1 4823334 rs10915640 G T 485.36 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.40;MQ0=0;OQ=978.54;QD=13.05;SB=-397.99 GT:AD:DP:GL:GQ 0/1:40,35:71:-122.52,-21.38,-136.84:99 -chr1 4823422 rs10915641 G A 453.84 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=45.14;MQ0=3;OQ=955.26;QD=11.79;SB=-332.42 GT:AD:DP:GL:GQ 0/1:46,35:73:-120.80,-21.99,-150.35:99 -chr1 4824006 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=60;Dels=0.03;HRun=20;HaplotypeScore=17.44;MQ=44.47;MQ0=0;OQ=216.45;QD=3.61;SB=56.16 GT:AD:DP:GL:GQ 0/1:34,24:43:-37.29,-12.36,-108.08:99 -chr1 4824255 rs6656943 G A 241.34 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=48.13;MQ0=0;OQ=486.99;QD=9.37;SB=-207.48 GT:AD:DP:GL:GQ 0/1:29,22:45:-65.55,-13.57,-87.60:99 -chr1 4824523 rs6674586 T A 163.54 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=48.28;MQ0=0;OQ=656.95;QD=12.17;SB=-109.40 GT:AD:DP:GL:GQ 0/1:27,27:47:-83.14,-14.16,-95.96:99 -chr1 4824573 rs6674680 T C 13.56 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.68;MQ=52.32;MQ0=0;OQ=270.57;QD=5.11;SB=-156.88 GT:AD:DP:GL:GQ 0/1:35,18:46:-44.20,-13.86,-137.80:99 -chr1 4824574 . G A 7.24 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=2.68;MQ=52.42;MQ0=0;OQ=361.86;QD=6.83;SB=-143.57 GT:AD:DP:GL:GQ 0/1:34,19:46:-53.32,-13.85,-117.68:99 -chr1 4824682 rs12135493 G A 249.33 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=51.42;MQ0=1;OQ=988.12;QD=12.83;SB=-444.35 GT:AD:DP:GL:GQ 0/1:44,32:73:-124.08,-21.99,-153.59:99 -chr1 4824703 rs6671779 A G 149.25 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=3.56;MQ=45.45;MQ0=6;OQ=857.95;QD=10.46;SB=-366.21 GT:AD:DP:GL:GQ 0/1:48,33:70:-110.16,-21.08,-158.61:99 -chr1 4824716 rs6674795 T A 84.16 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=5.06;MQ=43.80;MQ0=7;OQ=985.67;QD=11.60;SB=-441.50 GT:AD:DP:GL:GQ 0/1:51,34:73:-123.84,-21.98,-157.76:99 -chr1 4824850 rs36062377 G T 24.04 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=3;HaplotypeScore=2.62;MQ=51.81;MQ0=1;OQ=1235.06;QD=17.15;SB=-475.54 GT:AD:DP:GL:GQ 0/1:30,42:67:-146.97,-20.18,-98.26:99 -chr1 4825033 rs7529540 T C 245.46 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=39.74;MQ0=8;OQ=558.43;QD=7.55;SB=-301.05 GT:AD:DP:GL:GQ 0/1:47,27:63:-78.11,-18.99,-158.23:99 -chr1 4825352 rs4559467 G A 108.52 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=5.62;MQ=48.67;MQ0=0;OQ=560.80;QD=11.22;SB=-300.78 GT:AD:DP:GL:GQ 0/1:27,20:40:-71.42,-12.05,-75.01:99 -chr1 4825513 rs4638087 G C 326.19 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.47;MQ0=0;OQ=1176.04;QD=19.60;SB=-421.03 GT:AD:DP:GL:GQ 0/1:27,33:59:-138.66,-17.78,-117.95:99 -chr1 4825553 rs4551566 C G 30.76 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.33;MQ0=0;OQ=1250.51;QD=22.33;SB=-448.38 GT:AD:DP:GL:GQ 0/1:22,34:55:-144.91,-16.57,-96.90:99 -chr1 4826034 rs7529926 A G 223.14 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=2.45;MQ=57.60;MQ0=0;OQ=1139.50;QD=13.57;SB=-533.50 GT:AD:DP:GL:GQ 0/1:44,39:83:-142.23,-25.00,-178.33:99 -chr1 4826162 rs7525613 C T 13.44 PASS AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.00;HRun=2;HaplotypeScore=3.45;MQ=59.36;MQ0=1;OQ=993.15;QD=10.80;SB=-409.28 GT:AD:DP:GL:GQ 0/1:59,33:90:-129.72,-27.12,-195.16:99 -chr1 4826345 rs2104305 G T 184.73 PASS AC=1;AF=0.50;AN=2;DB;DP=40;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=57.85;MQ0=1;OQ=505.67;QD=12.64;SB=-209.45 GT:AD:DP:GL:GQ 0/1:21,19:39:-65.60,-11.75,-75.98:99 -chr1 4826423 rs2093767 G A 138.65 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=3.61;MQ=58.83;MQ0=0;OQ=815.33;QD=15.68;SB=-288.73 GT:AD:DP:GL:GQ 0/1:27,25:52:-100.48,-15.67,-95.85:99 -chr1 4826585 rs2093766 C T 86.86 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=59.52;MQ0=0;OQ=705.53;QD=13.07;SB=-332.40 GT:AD:DP:GL:GQ 0/1:31,23:54:-90.10,-16.27,-110.86:99 -chr1 4826810 rs10915643 T G 203.85 PASS AC=1;AF=0.50;AN=2;DB;DP=44;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=57.12;MQ0=0;OQ=525.52;QD=11.94;SB=-258.86 GT:AD:DP:GL:GQ 0/1:23,21:42:-68.49,-12.65,-82.71:99 -chr1 4827586 rs55916988 A T 25.36 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=889.58;QD=14.35;SB=-432.48 GT:AD:DP:GL:GQ 0/1:33,29:62:-110.92,-18.68,-123.75:99 -chr1 4827658 rs10915644 C T 105.99 PASS AC=1;AF=0.50;AN=2;DB;DP=104;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=60.00;MQ0=0;OQ=1865.95;QD=17.94;SB=-912.01 GT:AD:DP:GL:GQ 0/1:46,58:101:-220.30,-30.43,-168.62:99 -chr1 4828047 rs10915645 G T 162.71 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=2;HaplotypeScore=0.73;MQ=59.35;MQ0=0;OQ=1117.38;QD=13.97;SB=-570.65 GT:AD:DP:GL:GQ 0/1:41,39:77:-138.21,-23.19,-142.58:99 -chr1 4828218 rs10915646 T C 280.72 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=1.03;MQ=59.65;MQ0=0;OQ=827.35;QD=15.32;SB=-429.21 GT:AD:DP:GL:GQ 0/1:26,28:54:-102.28,-16.26,-103.92:99 -chr1 4829521 rs7525315 A G 34.89 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=2;HaplotypeScore=1.86;MQ=60.00;MQ0=0;OQ=437.24;QD=11.82;SB=-193.62 GT:AD:DP:GL:GQ 0/1:19,18:35:-57.55,-10.55,-75.26:99 -chr1 4829549 rs7511935 G C 92.43 PASS AC=1;AF=0.50;AN=2;DB;DP=37;Dels=0.00;HRun=1;HaplotypeScore=2.47;MQ=60.00;MQ0=0;OQ=512.56;QD=13.85;SB=-232.38 GT:AD:DP:GL:GQ 0/1:19,18:33:-64.49,-9.95,-73.26:99 -chr1 4829662 rs7512035 G A 4.93 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=9.93;MQ=58.76;MQ0=0;OQ=838.03;QD=17.10;SB=-374.88 GT:AD:DP:GL:GQ 0/1:21,27:46:-104.45,-17.36,-74.24:99 -chr1 4830041 rs1886112 T C 323.11 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.65;MQ=58.39;MQ0=0;OQ=754.42;QD=11.79;SB=-313.28 GT:AD:DP:GL:GQ 0/1:35,29:61:-97.11,-18.38,-135.74:99 -chr1 4830111 rs2411950 A G 299.57 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=2.97;MQ=59.44;MQ0=0;OQ=788.01;QD=11.76;SB=-302.20 GT:AD:DP:GL:GQ 0/1:34,33:66:-101.98,-19.90,-134.57:99 -chr1 4831214 rs11588518 A G 386.42 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.12;MQ=58.39;MQ0=0;OQ=816.62;QD=14.85;SB=-422.33 GT:AD:DP:GL:GQ 0/1:26,29:53:-100.91,-15.96,-102.18:99 -chr1 4832304 rs10915647 T G 357.62 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.96;MQ=59.21;MQ0=0;OQ=992.87;QD=12.89;SB=-411.65 GT:AD:DP:GL:GQ 0/1:36,41:75:-125.17,-22.60,-131.25:99 -chr1 4833095 rs10489136 G A 381.62 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.25;MQ0=0;OQ=597.16;QD=11.94;SB=-271.12 GT:AD:DP:GL:GQ 0/1:30,20:49:-77.76,-14.76,-108.40:99 -chr1 4833385 rs11809159 G A 313.41 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.57;MQ0=0;OQ=671.57;QD=12.44;SB=-350.34 GT:AD:DP:GL:GQ 0/1:33,21:52:-86.11,-15.67,-111.35:99 -chr1 4834568 rs12691490 G A 57.53 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=2;HaplotypeScore=1.52;MQ=59.19;MQ0=0;OQ=1072.80;QD=14.30;SB=-179.14 GT:AD:DP:GL:GQ 0/1:41,34:74:-132.86,-22.29,-148.17:99 -chr1 4834712 rs11810903 C T 299.28 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=59.50;MQ0=0;OQ=847.25;QD=15.99;SB=-334.31 GT:AD:DP:GL:GQ 0/1:27,26:50:-103.07,-15.06,-90.22:99 -chr1 4835505 . G A 70.11 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=57.18;MQ0=2;OQ=1406.02;QD=19.00;SB=-566.58 GT:AD:DP:GL:GQ 0/1:33,41:71:-165.27,-21.39,-109.48:99 -chr1 4835574 rs60862815 A G 389.11 PASS AC=1;AF=0.50;AN=2;DB;DP=96;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=52.44;MQ0=0;OQ=1406.97;QD=14.66;SB=-683.24 GT:AD:DP:GL:GQ 0/1:48,48:95:-172.59,-28.61,-196.25:99 -chr1 4835660 . A G 23.51 PASS AC=1;AF=0.50;AN=2;DP=96;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=53.01;MQ0=0;OQ=1833.96;QD=19.10;SB=-522.87 GT:AD:DP:GL:GQ 0/1:39,57:96:-215.59,-28.91,-159.74:99 -chr1 4837550 rs35283465 T G 356.52 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.39;MQ0=0;OQ=1133.74;QD=16.67;SB=-504.82 GT:AD:DP:GL:GQ 0/1:30,38:68:-137.14,-20.48,-110.12:99 -chr1 4837913 rs10753390 T C 137.37 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=2.60;MQ=60.00;MQ0=0;OQ=941.83;QD=14.72;SB=-459.61 GT:AD:DP:GL:GQ 0/1:30,34:62:-116.15,-18.68,-119.75:99 -chr1 4839426 rs942248 G A 447.55 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.57;MQ=60.00;MQ0=0;OQ=1139.23;QD=16.75;SB=-553.39 GT:AD:DP:GL:GQ 0/1:34,34:68:-137.70,-20.50,-108.59:99 -chr1 4841270 rs10915651 A G 240.97 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=57.66;MQ0=0;OQ=816.55;QD=11.66;SB=-378.12 GT:AD:DP:GL:GQ 0/1:39,31:68:-105.42,-20.48,-155.28:99 -chr1 4841714 rs4654463 A C 478.61 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=555.94;QD=9.75;SB=-254.73 GT:AD:DP:GL:GQ 0/1:35,22:56:-75.74,-16.86,-132.35:99 -chr1 4844074 rs10733017 T C 2.18 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=11.82;MQ=59.63;MQ0=0;OQ=699.51;QD=11.10;SB=-327.09 GT:AD:DP:GL:GQ 0/1:36,27:62:-91.91,-18.68,-144.88:99 -chr1 4844167 rs11576728 C A 571.03 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.76;MQ0=0;OQ=1050.49;QD=13.64;SB=-532.68 GT:AD:DP:GL:GQ 0/1:42,35:77:-131.52,-23.19,-153.03:99 -chr1 4844702 rs7543026 G A 584.71 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.93;MQ0=0;OQ=948.11;QD=15.54;SB=-391.87 GT:AD:DP:GL:GQ 0/1:33,28:60:-116.18,-18.08,-104.09:99 -chr1 4845341 rs6658585 A C 76.93 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=4.00;MQ=59.18;MQ0=0;OQ=1071.52;QD=16.74;SB=-367.56 GT:AD:DP:GL:GQ 0/1:26,38:62:-129.11,-18.67,-97.88:99 -chr1 4845498 rs12057393 G A 364.71 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=12;HaplotypeScore=3.79;MQ=47.74;MQ0=0;QD=4.19;SB=-24.81 GT:AD:DP:GL:GQ 0/1:67,20:77:-62.95,-23.20,-211.18:99 -chr1 4845501 . G A 272.57 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=2;HaplotypeScore=5.43;MQ=47.58;MQ0=0;QD=3.17;SB=59.32 GT:AD:DP:GL:GQ 0/1:69,17:79:-54.34,-23.80,-226.78:99 -chr1 4845504 . G A 237.01 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=2;HaplotypeScore=5.58;MQ=47.42;MQ0=0;QD=2.79;SB=100.89 GT:AD:DP:GL:GQ 0/1:69,16:79:-50.79,-23.80,-233.92:99 -chr1 4846112 rs34320332 A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=25.56;MQ=59.10;MQ0=1;OQ=980.42;QD=12.41;SB=-508.92 GT:AD:DP:GL:GQ 0/1:43,36:73:-123.31,-21.99,-148.19:99 -chr1 4846138 rs4141866 T G 321.22 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=60.00;MQ0=0;OQ=1084.74;QD=12.91;SB=-515.88 GT:AD:DP:GL:GQ 0/1:44,39:81:-136.16,-24.40,-149.14:99 -chr1 4846537 rs2224810 C T 118.17 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=2;HaplotypeScore=2.15;MQ=60.00;MQ0=0;OQ=819.69;QD=11.71;SB=-407.37 GT:AD:DP:GL:GQ 0/1:43,26:69:-109.19,-23.93,-141.50:99 -chr1 4846628 rs2209160 C T 102.30 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=6.02;MQ=59.71;MQ0=0;OQ=1103.05;QD=13.96;SB=-498.70 GT:AD:DP:GL:GQ 0/1:45,34:78:-137.10,-23.51,-139.74:99 -chr1 4847013 rs4654617 G A 341.44 PASS AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.65;MQ=60.12;MQ0=0;OQ=1328.73;QD=14.44;SB=-558.05 GT:AD:DP:GL:GQ 0/1:51,41:91:-163.57,-27.42,-178.46:99 -chr1 4847234 rs4654618 G A 257.57 PASS AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.79;MQ0=0;OQ=1473.23;QD=16.93;SB=-644.65 GT:AD:DP:GL:GQ 0/1:44,43:86:-176.51,-25.90,-155.83:99 -chr1 4847304 rs11576619 A C 410.62 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.58;MQ0=0;OQ=1115.68;QD=12.54;SB=-555.85 GT:AD:DP:GL:GQ 0/1:50,39:89:-141.65,-26.80,-188.69:99 -chr1 4848245 rs10915655 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.04;HRun=13;HaplotypeScore=40.55;MQ=53.84;MQ0=0;OQ=783.98;QD=11.53;SB=-399.49 GT:AD:DP:GL:GQ 0/1:35,30:57:-98.55,-16.87,-112.34:99 -chr1 4848259 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=13;HaplotypeScore=8.75;MQ=53.39;MQ0=0;OQ=145.61;QD=2.24;SB=43.71 GT:AD:DP:GL:GQ 0/1:50,15:51:-33.22,-15.38,-143.27:99 -chr1 4848272 rs59534952 C T 83.18 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=1;HaplotypeScore=2.85;MQ=55.61;MQ0=0;OQ=567.99;QD=11.83;SB=-226.73 GT:AD:DP:GL:GQ 0/1:29,19:46:-73.94,-13.86,-98.14:99 -chr1 4849613 rs2224809 G T 40.55 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=5.98;MQ=59.05;MQ0=0;OQ=753.24;QD=11.77;SB=-371.10 GT:AD:DP:GL:GQ 0/1:36,28:62:-97.28,-18.68,-118.15:99 -chr1 4851425 rs4654464 C A 99.04 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=3;HaplotypeScore=1.30;MQ=59.74;MQ0=0;OQ=1201.43;QD=13.50;SB=-585.67 GT:AD:DP:GL:GQ 0/1:47,42:87:-149.63,-26.21,-164.62:99 -chr1 4851649 rs1544062 A C 506.42 PASS AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.80;MQ0=0;OQ=1031.53;QD=11.21;SB=-464.74 GT:AD:DP:GL:GQ 0/1:52,40:90:-133.54,-27.11,-194.44:99 -chr1 4852648 rs6664880 A G 404.16 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=757.37;QD=15.15;SB=-338.35 GT:AD:DP:GL:GQ 0/1:21,29:49:-93.79,-14.77,-78.78:99 -chr1 4853388 rs16839786 G T 224.38 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=53.58;MQ0=0;OQ=920.28;QD=16.43;SB=-211.55 GT:AD:DP:GL:GQ 0/1:26,30:55:-111.88,-16.57,-81.39:99 -chr1 4853673 rs61764897 T A 731.06 Indel AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=49.62;MQ0=0;QD=11.25;SB=-257.66 GT:AD:DP:GL:GQ 0/1:39,26:64:-95.67,-19.28,-148.40:99 -chr1 4854729 rs11578197 G A 258.41 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.18;MQ=59.65;MQ0=0;OQ=1050.33;QD=16.16;SB=-476.48 GT:AD:DP:GL:GQ 0/1:33,32:63:-127.30,-18.99,-107.48:99 -chr1 4855018 rs16839789 C T 363.83 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=59.33;MQ0=0;OQ=1117.05;QD=14.70;SB=-538.76 GT:AD:DP:GL:GQ 0/1:39,37:73:-136.99,-22.00,-128.05:99 -chr1 4855722 rs6426446 C T 346.09 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.43;MQ0=0;OQ=1302.13;QD=17.84;SB=-634.73 GT:AD:DP:GL:GQ 0/1:34,39:71:-154.89,-21.40,-105.41:99 -chr1 4855930 rs6426447 T C 166.41 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=57.78;MQ0=0;OQ=489.14;QD=8.58;SB=-219.87 GT:AD:DP:GL:GQ 0/1:31,26:53:-68.18,-15.98,-120.90:99 -chr1 4856415 rs7547152 G C 495.16 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.79;MQ0=0;OQ=942.12;QD=15.20;SB=-441.90 GT:AD:DP:GL:GQ 0/1:35,27:61:-115.88,-18.38,-149.41:99 -chr1 4857229 rs58851741 C T 459.60 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=966.78;QD=16.67;SB=-403.91 GT:AD:DP:GL:GQ 0/1:27,31:57:-117.15,-17.19,-83.93:99 -chr1 4857438 rs6663654 A G 150.02 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=1.74;MQ=59.66;MQ0=0;OQ=1188.14;QD=17.73;SB=-597.99 GT:AD:DP:GL:GQ 0/1:26,41:63:-141.07,-18.98,-97.28:99 -chr1 4857938 rs4654466 T G 14.09 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=3;HaplotypeScore=2.02;MQ=60.00;MQ0=0;OQ=2439.19;QD=33.41;SB=-1032.90 GT:AD:DP:GL:GQ 1/1:0,73:72:-247.54,-21.70,-0.04:99 -chr1 4857962 rs4654620 T C 617.25 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2216.51;QD=34.63;SB=-1013.85 GT:AD:DP:GL:GQ 1/1:0,64:63:-225.26,-18.98,-0.03:99 -chr1 4858133 rs12026056 C T 160.83 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.48;MQ0=0;OQ=1391.17;QD=19.32;SB=-472.46 GT:AD:DP:GL:GQ 0/1:31,41:70:-163.49,-21.09,-105.37:99 -chr1 4858331 rs2411952 T G 714.78 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2714.55;QD=33.93;SB=-941.23 GT:AD:DP:GL:GQ 1/1:0,80:78:-275.06,-23.49,-0.02:99 -chr1 4858799 rs10915656 A G 325.06 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=60.00;MQ0=0;OQ=541.63;QD=8.88;SB=-253.33 GT:AD:DP:GL:GQ 0/1:37,24:61:-75.83,-18.39,-146.51:99 -chr1 4859646 rs2031246 A G 219.32 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=58.68;MQ0=0;OQ=1950.88;QD=29.12;SB=-966.30 GT:AD:DP:GL:GQ 1/1:0,67:62:-198.73,-18.70,-0.06:99 -chr1 4859671 . T C 13.11 PASS AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=1;HaplotypeScore=3.64;MQ=59.06;MQ0=0;OQ=883.63;QD=12.81;SB=-329.17 GT:AD:DP:GL:GQ 0/1:37,32:67:-111.83,-20.19,-139.59:99 -chr1 4859954 rs34895557 G T 206.38 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.25;MQ=59.24;MQ0=0;OQ=744.21;QD=13.53;SB=-251.43 GT:AD:DP:GL:GQ 0/1:28,27:52:-93.37,-15.67,-91.09:99 -chr1 4860771 rs1998542 A G 287.69 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.36;MQ0=0;OQ=1092.68;QD=14.57;SB=-569.57 GT:AD:DP:GL:GQ 0/1:37,38:74:-134.84,-22.29,-148.74:99 -chr1 4861394 rs12564397 A T 437.24 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.84;MQ0=0;OQ=1000.40;QD=17.86;SB=-441.86 GT:AD:DP:GL:GQ 0/1:25,31:56:-120.19,-16.87,-93.72:99 -chr1 4861557 rs35411636 G A 169.15 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=1.73;MQ=59.72;MQ0=0;OQ=1208.45;QD=18.04;SB=-440.97 GT:AD:DP:GL:GQ 0/1:30,37:64:-143.41,-19.28,-105.19:99 -chr1 4863429 . C T 229.25 PASS AC=1;AF=0.50;AN=2;DP=86;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.78;MQ0=0;OQ=1493.09;QD=17.36;SB=-728.57 GT:AD:DP:GL:GQ 0/1:41,45:85:-178.20,-25.60,-151.88:99 -chr1 4863497 rs7524606 G A 427.14 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=0;HaplotypeScore=1.18;MQ=60.00;MQ0=0;OQ=1511.71;QD=17.58;SB=-634.67 GT:AD:DP:GL:GQ 0/1:42,44:85:-180.06,-25.60,-147.35:99 -chr1 4863865 rs1980722 C T 503.84 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3056.08;QD=40.21;SB=-645.86 GT:AD:DP:GL:GQ 1/1:0,76:76:-309.21,-22.89,-0.02:99 -chr1 4864428 rs11580747 G C 245.21 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.79;MQ=59.63;MQ0=0;OQ=942.97;QD=14.97;SB=-334.34 GT:AD:DP:GL:GQ 0/1:36,27:61:-115.96,-18.38,-154.60:99 -chr1 4865012 rs17345545 A C 595.58 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.73;MQ0=0;OQ=1349.09;QD=16.06;SB=-446.78 GT:AD:DP:GL:GQ 0/1:36,48:82:-162.89,-24.70,-132.81:99 -chr1 4865105 rs57839229 A T 93.37 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=1.14;MQ=59.34;MQ0=0;OQ=1132.50;QD=17.98;SB=-522.98 GT:AD:DP:GL:GQ 0/1:27,36:62:-135.21,-18.67,-99.92:99 -chr1 4865351 rs4654467 A G 16.96 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.01;HRun=0;HaplotypeScore=4.70;MQ=59.78;MQ0=0;OQ=2675.08;QD=31.11;SB=-1049.26 GT:AD:DP:GL:GQ 1/1:0,84:83:-271.15,-24.72,-0.06:99 -chr1 4866087 rs10915662 A T 363.81 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.38;MQ0=0;OQ=1323.19;QD=19.75;SB=-593.71 GT:AD:DP:GL:GQ 0/1:27,40:67:-155.78,-20.18,-103.30:99 -chr1 4866400 rs12064982 G A 103.40 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=3.34;MQ=60.00;MQ0=0;OQ=973.54;QD=18.03;SB=-247.54 GT:AD:DP:GL:GQ 0/1:25,29:53:-116.61,-15.97,-79.83:99 -chr1 4866918 rs12031154 A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=24.82;MQ=54.18;MQ0=0;OQ=935.81;QD=11.27;SB=-380.06 GT:AD:DP:GL:GQ 0/1:43,40:73:-118.86,-22.00,-142.88:99 -chr1 4866921 rs12026933 G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.03;HRun=18;HaplotypeScore=19.70;MQ=54.46;MQ0=0;OQ=1554.81;QD=17.87;SB=-743.33 GT:AD:DP:GL:GQ 0/1:33,51:81:-182.28,-23.51,-100.13:99 -chr1 4867019 rs11803696 A G 583.39 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.38;MQ0=0;OQ=1173.47;QD=12.90;SB=-430.96 GT:AD:DP:GL:GQ 0/1:48,43:89:-147.44,-26.81,-193.48:99 -chr1 4867070 rs6672145 C T 154.08 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.79;MQ=58.49;MQ0=0;OQ=2949.30;QD=37.81;SB=-1148.66 GT:AD:DP:GL:GQ 1/1:0,78:74:-298.53,-22.29,-0.02:99 -chr1 4867333 rs10737414 C T 577.78 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.28;MQ0=0;OQ=3774.90;QD=40.59;SB=-1090.96 GT:AD:DP:GL:GQ 1/1:0,93:91:-376.49,-27.41,-0.02:99 -chr1 4867363 rs7533707 A T 409.29 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.50;MQ0=0;OQ=3186.97;QD=36.63;SB=-1277.61 GT:AD:DP:GL:GQ 1/1:0,87:84:-322.30,-25.30,-0.02:99 -chr1 4867599 rs7520488 G C 176.88 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=3.17;MQ=58.98;MQ0=0;OQ=1260.85;QD=19.70;SB=-431.87 GT:AD:DP:GL:GQ 0/1:29,35:63:-148.35,-18.98,-119.77:99 -chr1 4867836 rs10753391 C T 252.04 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.73;MQ=58.82;MQ0=0;OQ=2192.96;QD=37.17;SB=-1090.48 GT:AD:DP:GL:GQ 1/1:0,58:57:-222.90,-17.17,-0.02:99 -chr1 4869610 rs10753392 A G 2.94 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=12.66;MQ=58.15;MQ0=0;OQ=2566.56;QD=33.77;SB=-1061.07 GT:AD:DP:GL:GQ 1/1:1,75:72:-260.27,-21.69,-0.02:99 -chr1 4869715 rs10753393 A G 57.47 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=1.94;MQ=55.52;MQ0=0;OQ=2164.34;QD=32.79;SB=-1098.81 GT:AD:DP:GL:GQ 1/1:0,66:62:-220.05,-18.68,-0.03:99 -chr1 4869773 rs10737415 G A 79.07 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.29;MQ=59.56;MQ0=0;OQ=867.20;QD=16.36;SB=-154.19 GT:AD:DP:GL:GQ 0/1:24,29:51:-105.37,-15.37,-83.26:99 -chr1 4869802 rs10753394 T C 256.85 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.38;MQ=60.00;MQ0=0;OQ=1715.99;QD=30.64;SB=-772.60 GT:AD:DP:GL:GQ 1/1:0,56:56:-175.25,-16.90,-0.06:99 -chr1 4869982 rs10915666 G A 210.38 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.64;MQ=58.75;MQ0=0;OQ=1883.17;QD=36.21;SB=-696.34 GT:AD:DP:GL:GQ 1/1:0,50:49:-191.92,-14.76,-0.02:99 -chr1 4870346 rs6675549 G A 170.55 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=4.29;MQ=57.91;MQ0=0;OQ=1211.32;QD=19.23;SB=-547.10 GT:AD:DP:GL:GQ 0/1:28,35:62:-143.11,-18.69,-84.61:99 -chr1 4870866 rs60530383 A G 40.28 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=2;HaplotypeScore=2.54;MQ=60.00;MQ0=0;OQ=824.16;QD=14.46;SB=-305.38 GT:AD:DP:GL:GQ 0/1:28,29:56:-102.57,-16.87,-109.85:99 -chr1 4871367 rs12034557 C T 506.72 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.67;MQ0=0;OQ=1054.17;QD=18.82;SB=-458.82 GT:AD:DP:GL:GQ 0/1:25,31:55:-125.27,-16.57,-85.80:99 -chr1 4871442 rs11584441 T G 5.72 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=1.95;MQ=57.60;MQ0=1;OQ=392.05;QD=7.00;SB=-149.17 GT:AD:DP:GL:GQ 0/1:35,21:54:-58.76,-16.27,-123.74:99 -chr1 4871485 rs12034590 C T 165.34 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.35;MQ0=0;OQ=1273.44;QD=19.90;SB=-540.59 GT:AD:DP:GL:GQ 0/1:26,38:62:-149.30,-18.68,-91.11:99 -chr1 4871683 rs10915667 G A 252.09 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=1.13;MQ=59.56;MQ0=0;OQ=868.47;QD=16.70;SB=-440.82 GT:AD:DP:GL:GQ 0/1:26,26:50:-105.19,-15.06,-84.43:99 -chr1 4872046 rs41524347 T G 240.01 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.74;MQ0=0;OQ=531.74;QD=7.28;SB=-248.55 GT:AD:DP:GL:GQ 0/1:47,26:72:-78.15,-21.69,-181.81:99 -chr1 4872269 rs7549400 A G 96.19 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=2;HaplotypeScore=1.52;MQ=58.82;MQ0=1;OQ=894.68;QD=13.76;SB=-387.61 GT:AD:DP:GL:GQ 0/1:34,31:64:-112.04,-19.29,-126.05:99 -chr1 4872967 rs11805753 C T 385.01 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.56;MQ=59.68;MQ0=0;OQ=1214.98;QD=17.11;SB=-484.47 GT:AD:DP:GL:GQ 0/1:35,36:70:-145.88,-21.10,-111.38:99 -chr1 4873161 rs10915668 C T 676.89 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.74;MQ0=0;OQ=2872.25;QD=39.89;SB=-1024.38 GT:AD:DP:GL:GQ 1/1:0,72:72:-290.83,-21.69,-0.02:99 -chr1 4874423 rs10915669 T C 15.37 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=2.47;MQ=59.06;MQ0=0;OQ=1979.91;QD=28.69;SB=-648.94 GT:AD:DP:GL:GQ 1/1:0,69:62:-201.63,-18.69,-0.05:99 -chr1 4875425 rs10157835 A G 332.29 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.11;MQ0=0;OQ=1038.14;QD=16.48;SB=-539.00 GT:AD:DP:GL:GQ 0/1:28,35:63:-126.07,-18.98,-114.44:99 -chr1 4877097 rs12565275 C G 395.93 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.57;MQ0=0;OQ=611.15;QD=11.32;SB=-239.42 GT:AD:DP:GL:GQ 0/1:33,21:54:-80.69,-16.29,-144.98:99 -chr1 4877956 rs2898849 G C 124.47 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.58;MQ=59.05;MQ0=0;OQ=3110.04;QD=42.60;SB=-1016.57 GT:AD:DP:GL:GQ 1/1:0,72:72:-314.62,-21.70,-0.03:99 -chr1 4878047 rs12564793 G C 328.95 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.70;MQ0=0;OQ=765.57;QD=12.15;SB=-303.80 GT:AD:DP:GL:GQ 0/1:37,26:61:-98.24,-18.40,-159.57:99 -chr1 4880219 rs11585512 A G 134.50 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=3.24;MQ=59.43;MQ0=0;OQ=632.04;QD=9.58;SB=-314.90 GT:AD:DP:GL:GQ 0/1:35,31:61:-84.88,-18.39,-132.31:99 -chr1 4880279 rs11583660 G A 590.60 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.47;MQ0=0;OQ=976.49;QD=13.95;SB=-412.71 GT:AD:DP:GL:GQ 0/1:40,30:69:-121.72,-20.78,-142.93:99 -chr1 4880552 rs12035499 G A 202.58 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.63;MQ0=0;OQ=1072.23;QD=21.02;SB=-458.86 GT:AD:DP:GL:GQ 0/1:20,31:50:-125.57,-15.06,-66.05:99 -chr1 4881363 rs942245 A G 135.80 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=2549.24;QD=35.41;SB=-1267.52 GT:AD:DP:GL:GQ 1/1:0,72:71:-258.53,-21.38,-0.02:99 -chr1 4882246 rs6698453 G A 17.37 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=3;HaplotypeScore=2.99;MQ=60.00;MQ0=0;OQ=1152.61;QD=20.22;SB=-564.76 GT:AD:DP:GL:GQ 0/1:24,33:57:-135.71,-17.17,-88.68:99 -chr1 4883339 rs12043326 T C 559.70 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.28;MQ0=0;OQ=840.35;QD=11.84;SB=-378.86 GT:AD:DP:GL:GQ 0/1:36,35:67:-107.51,-20.19,-138.68:99 -chr1 4883603 rs10915672 C A 302.35 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=917.14;QD=15.81;SB=-477.86 GT:AD:DP:GL:GQ 0/1:28,30:58:-112.47,-17.47,-92.34:99 -chr1 4883658 rs4141867 T C 369.29 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=60.00;MQ0=0;OQ=1888.75;QD=33.14;SB=-779.12 GT:AD:DP:GL:GQ 1/1:0,57:54:-192.48,-16.27,-0.02:99 -chr1 4883885 rs6702564 G A 362.71 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=1074.71;QD=17.62;SB=-363.86 GT:AD:DP:GL:GQ 0/1:29,32:61:-129.13,-18.37,-105.65:99 -chr1 4884232 rs1535733 T C 178.47 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=1.73;MQ=59.20;MQ0=1;OQ=1010.15;QD=15.08;SB=-514.02 GT:AD:DP:GL:GQ 0/1:32,35:66:-124.18,-19.88,-130.89:99 -chr1 4884527 rs6666792 C A 73.74 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=3;HaplotypeScore=1.81;MQ=60.00;MQ0=0;OQ=1017.13;QD=16.14;SB=-354.42 GT:AD:DP:GL:GQ 0/1:29,34:62:-123.67,-18.68,-100.25:99 -chr1 4884742 rs2093765 A G 735.50 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.44;MQ0=0;OQ=2661.52;QD=35.97;SB=-1066.10 GT:AD:DP:GL:GQ 1/1:0,74:74:-269.76,-22.29,-0.02:99 -chr1 4885223 rs6667433 C T 727.08 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=1991.58;QD=36.21;SB=-991.61 GT:AD:DP:GL:GQ 1/1:1,54:54:-205.04,-16.28,-2.29:99 -chr1 4885428 rs10753395 A C 505.64 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.54;MQ0=0;OQ=2504.61;QD=34.79;SB=-1254.33 GT:AD:DP:GL:GQ 1/1:0,72:71:-254.07,-21.38,-0.02:99 -chr1 4885629 rs10915675 C T 373.73 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=59.20;MQ0=0;OQ=841.96;QD=14.52;SB=-410.79 GT:AD:DP:GL:GQ 0/1:31,27:56:-104.36,-16.88,-95.31:99 -chr1 4886330 rs2411956 G T 352.27 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.52;MQ=59.33;MQ0=0;OQ=915.03;QD=14.76;SB=-419.13 GT:AD:DP:GL:GQ 0/1:29,33:59:-112.57,-17.78,-93.60:99 -chr1 4886464 rs2898852 G A 427.35 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.13;MQ=59.69;MQ0=0;OQ=1311.14;QD=17.48;SB=-649.71 GT:AD:DP:GL:GQ 0/1:36,39:74:-156.69,-22.29,-124.22:99 -chr1 4887284 rs6666453 T G 591.26 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.63;MQ0=0;OQ=819.61;QD=13.22;SB=-407.64 GT:AD:DP:GL:GQ 0/1:31,31:61:-103.62,-18.37,-115.39:99 -chr1 4887891 rs61271613 G A 361.07 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=59.32;MQ0=0;OQ=1029.14;QD=15.13;SB=-413.79 GT:AD:DP:GL:GQ 0/1:37,31:68:-126.69,-20.50,-120.37:99 -chr1 4887923 rs12567162 A C 597.28 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.64;MQ0=0;OQ=1047.19;QD=16.36;SB=-475.28 GT:AD:DP:GL:GQ 0/1:27,37:63:-126.98,-18.97,-102.36:99 -chr1 4888122 rs11584727 G A 343.84 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=58.62;MQ0=0;OQ=960.03;QD=15.74;SB=-414.74 GT:AD:DP:GL:GQ 0/1:31,30:58:-116.76,-17.47,-107.44:99 -chr1 4888166 rs10799275 T C 449.24 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=759.70;QD=14.07;SB=-405.31 GT:AD:DP:GL:GQ 0/1:28,26:54:-95.52,-16.26,-116.08:99 -chr1 4888741 rs6667349 A G 162.92 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=2;HaplotypeScore=1.54;MQ=60.00;MQ0=0;OQ=906.44;QD=15.63;SB=-403.28 GT:AD:DP:GL:GQ 0/1:26,32:57:-111.10,-17.17,-105.01:99 -chr1 4891078 rs10915677 A C 501.83 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=791.64;QD=10.84;SB=-393.76 GT:AD:DP:GL:GQ 0/1:42,31:72:-104.14,-21.69,-153.97:99 -chr1 4891278 rs10753396 A G 48.68 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=3.33;MQ=59.27;MQ0=0;OQ=705.13;QD=13.83;SB=-249.29 GT:AD:DP:GL:GQ 0/1:25,26:49:-88.56,-14.77,-92.96:99 -chr1 4892541 rs6675977 C T 304.31 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.24;MQ0=0;OQ=854.23;QD=15.53;SB=-341.48 GT:AD:DP:GL:GQ 0/1:29,26:53:-104.68,-15.97,-89.47:99 -chr1 4893597 rs9426511 G A 254.52 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.65;MQ=59.63;MQ0=0;OQ=950.24;QD=15.08;SB=-473.01 GT:AD:DP:GL:GQ 0/1:32,31:60:-116.38,-18.07,-112.58:99 -chr1 4894312 rs12409253 G A 317.80 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=59.37;MQ0=0;OQ=1178.40;QD=17.85;SB=-478.44 GT:AD:DP:GL:GQ 0/1:31,35:66:-141.01,-19.88,-111.62:99 -chr1 4894801 rs12044092 G A 352.37 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=2.41;MQ=58.46;MQ0=0;OQ=1019.91;QD=14.36;SB=-390.41 GT:AD:DP:GL:GQ 0/1:36,34:67:-125.46,-20.19,-124.85:99 -chr1 4894886 rs12049256 T C 300.25 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.80;MQ=59.40;MQ0=0;OQ=829.82;QD=11.85;SB=-433.52 GT:AD:DP:GL:GQ 0/1:40,30:69:-107.05,-20.79,-158.76:99 -chr1 4895006 rs11588368 G A 587.49 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=820.91;QD=16.10;SB=-424.82 GT:AD:DP:GL:GQ 0/1:26,25:51:-100.74,-15.37,-86.84:99 -chr1 4895035 rs11591047 T C 208.88 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=60.00;MQ0=0;OQ=456.13;QD=9.70;SB=-221.38 GT:AD:DP:GL:GQ 0/1:26,21:45:-62.46,-13.57,-101.40:99 -chr1 4895453 rs10915681 C A 168.48 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=1;HaplotypeScore=1.78;MQ=58.81;MQ0=0;OQ=612.66;QD=11.14;SB=-214.30 GT:AD:DP:GL:GQ 0/1:31,24:51:-79.91,-15.36,-100.29:99 -chr1 4895802 rs10915682 G C 444.70 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=58.75;MQ0=0;OQ=770.78;QD=14.82;SB=-369.80 GT:AD:DP:GL:GQ 0/1:29,22:52:-98.80,-18.44,-131.37:99 -chr1 4896045 rs10915683 A G 284.67 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=59.68;MQ0=0;OQ=528.33;QD=8.95;SB=-128.57 GT:AD:DP:GL:GQ 0/1:38,21:56:-72.98,-16.87,-140.47:99 -chr1 4896086 rs4654470 A G 55.66 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=5.44;MQ=59.62;MQ0=0;OQ=494.74;QD=8.11;SB=-214.66 GT:AD:DP:GL:GQ 0/1:40,20:59:-73.24,-20.48,-157.99:99 -chr1 4896521 rs12037632 T C 412.13 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=59.62;MQ0=0;OQ=681.99;QD=11.18;SB=-282.28 GT:AD:DP:GL:GQ 0/1:32,29:59:-89.26,-17.78,-128.31:99 -chr1 4896528 . C T 86.04 PASS AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=1;HaplotypeScore=1.85;MQ=59.65;MQ0=0;OQ=946.41;QD=14.34;SB=-376.12 GT:AD:DP:GL:GQ 0/1:36,30:66:-117.81,-19.89,-127.23:99 -chr1 4896632 rs12040043 G A 26.46 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=5.45;MQ=59.30;MQ0=0;OQ=1274.10;QD=19.30;SB=-654.71 GT:AD:DP:GL:GQ 0/1:28,38:65:-150.27,-19.58,-99.74:99 -chr1 4897223 rs9426467 A G 376.87 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=60.00;MQ0=0;OQ=1052.07;QD=15.47;SB=-512.94 GT:AD:DP:GL:GQ 0/1:31,37:66:-128.37,-19.88,-120.24:99 -chr1 4897430 . C G 135.89 PASS AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1675.35;QD=20.68;SB=-845.32 GT:AD:DP:GL:GQ 0/1:35,46:79:-194.65,-23.83,-135.28:99 -chr1 4898245 rs9426468 A G 643.42 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.65;MQ0=0;OQ=1735.77;QD=32.14;SB=-669.84 GT:AD:DP:GL:GQ 1/1:0,54:54:-177.21,-16.28,-0.04:99 -chr1 4899159 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=3;HaplotypeScore=6.05;MQ=46.85;MQ0=0;OQ=120.33;QD=2.27;SB=65.24 GT:AD:DP:GL:GQ 0/1:32,21:41:-27.68,-12.36,-128.17:99 -chr1 4899332 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=0;HaplotypeScore=18.81;MQ=41.26;MQ0=0;OQ=75.19;QD=0.84;SB=83.30 GT:AD:DP:GL:GQ 0/1:74,15:82:-35.50,-24.70,-289.36:99 -chr1 4899338 rs61764934 T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=103;Dels=0.00;HRun=1;HaplotypeScore=53.72;MQ=39.00;MQ0=0;OQ=98.84;QD=0.96;SB=80.29 GT:AD:DP:GL:GQ 0/1:81,22:86:-39.08,-25.91,-300.72:99 -chr1 4899353 . A G 53.98 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=107;Dels=0.00;HRun=1;HaplotypeScore=114.06;MQ=38.02;MQ0=0;QD=0.50;SB=80.29 GT:AD:DP:GL:GQ 0/1:92,15:73:-30.68,-22.00,-253.39:86.82 -chr1 4899362 . C T 241.59 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=0;HaplotypeScore=82.55;MQ=36.98;MQ0=0;QD=2.20;SB=83.28 GT:AD:DP:GL:GQ 0/1:96,14:84:-52.74,-25.30,-256.82:99 -chr1 4899363 . A G 254.83 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=107;Dels=0.00;HRun=0;HaplotypeScore=89.52;MQ=36.48;MQ0=0;QD=2.38;SB=77.27 GT:AD:DP:GL:GQ 0/1:93,14:79:-52.57,-23.80,-259.03:99 -chr1 4899383 . A G 183.41 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=106;Dels=0.00;HRun=0;HaplotypeScore=35.87;MQ=33.65;MQ0=0;QD=1.73;SB=12.92 GT:AD:DP:GL:GQ 0/1:63,43:62:-40.31,-18.69,-193.47:99 -chr1 4899387 . G A 263.62 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=99;Dels=0.00;HRun=1;HaplotypeScore=43.90;MQ=33.13;MQ0=0;QD=2.66;SB=77.22 GT:AD:DP:GL:GQ 0/1:87,12:64:-48.92,-19.28,-184.60:99 -chr1 4899389 . C T 535.44 SnpCluster AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=0;HaplotypeScore=29.97;MQ=33.38;MQ0=0;QD=5.76;SB=-42.73 GT:AD:DP:GL:GQ 0/1:50,43:64:-76.11,-19.28,-160.16:99 -chr1 4899390 . A G 274.25 SnpCluster AC=1;AF=0.50;AN=2;DP=92;Dels=0.00;HRun=0;HaplotypeScore=29.97;MQ=32.97;MQ0=0;QD=2.98;SB=-22.76 GT:AD:DP:GL:GQ 0/1:49,43:57:-47.88,-17.17,-174.44:99 -chr1 4899396 . A G 365.84 SnpCluster AC=1;AF=0.50;AN=2;DP=91;Dels=0.00;HRun=0;HaplotypeScore=37.97;MQ=32.55;MQ0=0;QD=4.02;SB=-65.46 GT:AD:DP:GL:GQ 0/1:57,34:58:-57.34,-17.48,-166.05:99 -chr1 4899406 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=1;HaplotypeScore=33.13;MQ=34.08;MQ0=0;OQ=385.33;QD=4.76;SB=65.23 GT:AD:DP:GL:GQ 0/1:64,17:63:-60.79,-18.98,-180.67:99 -chr1 4899410 . A G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=77;Dels=0.00;HRun=0;HaplotypeScore=33.12;MQ=33.37;MQ0=0;OQ=280.21;QD=3.64;SB=-127.85 GT:AD:DP:GL:GQ 0/1:61,16:68:-51.79,-20.49,-213.95:99 -chr1 4899418 rs61764937 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=24.96;MQ=35.60;MQ0=0;OQ=416.78;QD=5.56;SB=-32.80 GT:AD:DP:GL:GQ 0/1:58,17:68:-65.44,-20.48,-183.51:99 -chr1 4899454 . A G 399.94 SnpCluster AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=0;HaplotypeScore=32.10;MQ=40.74;MQ0=0;QD=4.49;SB=-98.78 GT:AD:DP:GL:GQ 0/1:68,21:81:-67.68,-24.40,-246.97:99 -chr1 4899458 . A G 39.06 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=97;Dels=0.00;HRun=0;HaplotypeScore=68.26;MQ=40.42;MQ0=0;QD=0.40;SB=83.30 GT:AD:DP:GL:GQ 0/1:88,9:79:-30.98,-23.79,-291.61:71.90 -chr1 4899460 . A G 118.03 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=100;Dels=0.00;HRun=0;HaplotypeScore=72.96;MQ=40.46;MQ0=0;QD=1.18;SB=77.27 GT:AD:DP:GL:GQ 0/1:89,11:76:-37.98,-22.90,-265.09:99 -chr1 4899462 . C T 72.49 SnpCluster AC=1;AF=0.50;AN=2;DP=103;Dels=0.00;HRun=1;HaplotypeScore=75.80;MQ=40.64;MQ0=0;QD=0.70;SB=-1.28 GT:AD:DP:GL:GQ 0/1:95,8:73:-32.52,-21.98,-238.14:99 -chr1 4899467 . A G 135.65 SnpCluster AC=1;AF=0.50;AN=2;DP=110;Dels=0.00;HRun=0;HaplotypeScore=98.40;MQ=41.18;MQ0=0;QD=1.23;SB=-29.35 GT:AD:DP:GL:GQ 0/1:96,14:86:-42.76,-25.91,-295.60:99 -chr1 4899468 rs12745382 A T 958.03 SnpCluster AC=1;AF=0.50;AN=2;DB;DP=110;Dels=0.00;HRun=0;HaplotypeScore=107.35;MQ=41.23;MQ0=0;QD=8.71;SB=-316.45 GT:AD:DP:GL:GQ 0/1:64,46:95:-127.70,-28.61,-236.36:99 -chr1 4899487 rs12745394 A G 720.77 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=218;Dels=0.00;HRun=0;HaplotypeScore=160.10;MQ=38.29;MQ0=1;QD=3.31;SB=-244.39 GT:AD:DP:GL:GQ 0/1:161,57:163:-124.48,-49.12,-501.88:99 -chr1 4899493 . T C 260.40 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=248;Dels=0.00;HRun=0;HaplotypeScore=303.17;MQ=38.85;MQ0=1;QD=1.05;SB=56.79 GT:AD:DP:GL:GQ 0/1:215,32:203:-90.48,-61.15,-713.61:99 -chr1 4899494 . G A 174.70 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=252;Dels=0.00;HRun=0;HaplotypeScore=310.33;MQ=39.06;MQ0=1;QD=0.69;SB=21.87 GT:AD:DP:GL:GQ 0/1:226,26:203:-81.91,-61.15,-646.58:99 -chr1 4899498 . A G 872.52 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=252;Dels=0.00;HRun=0;HaplotypeScore=250.40;MQ=38.78;MQ0=1;QD=3.46;SB=78.26 GT:AD:DP:GL:GQ 0/1:199,53:211:-154.09,-63.56,-686.66:99 -chr1 4899500 rs12724550 G A 2189.95 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=250;Dels=0.00;HRun=0;HaplotypeScore=245.89;MQ=38.85;MQ0=1;QD=8.76;SB=-1087.26 GT:AD:DP:GL:GQ 0/1:149,76:205:-341.91,-119.63,-478.96:99 -chr1 4899501 . T G 179.31 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=252;Dels=0.00;HRun=1;HaplotypeScore=255.20;MQ=39.12;MQ0=1;QD=0.71;SB=215.88 GT:AD:DP:GL:GQ 0/1:226,25:204:-82.66,-61.45,-660.80:99 -chr1 4899507 . A G 466.12 DPFilter;Indel;SnpCluster AC=1;AF=0.50;AN=2;DP=254;Dels=0.00;HRun=0;HaplotypeScore=236.48;MQ=39.39;MQ0=1;QD=1.84;SB=155.66 GT:AD:DP:GL:GQ 0/1:206,47:211:-113.47,-63.57,-712.04:99 -chr1 4899538 . A G 1219.52 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=258;Dels=0.00;HRun=0;HaplotypeScore=176.47;MQ=39.21;MQ0=0;QD=4.73;SB=-218.54 GT:AD:DP:GL:GQ 0/1:190,68:212:-189.10,-63.86,-642.45:99 -chr1 4899540 . A G 894.27 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=255;Dels=0.00;HRun=0;HaplotypeScore=176.74;MQ=39.03;MQ0=0;QD=3.51;SB=-184.63 GT:AD:DP:GL:GQ 0/1:181,72:195:-154.12,-61.41,-609.10:99 -chr1 4899547 rs61764939 G A 1318.72 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DB;DP=260;Dels=0.00;HRun=0;HaplotypeScore=220.06;MQ=39.48;MQ0=0;QD=5.07;SB=-35.22 GT:AD:DP:GL:GQ 0/1:180,80:174:-187.61,-52.45,-416.57:99 -chr1 4899554 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=252;Dels=0.00;HRun=0;HaplotypeScore=215.32;MQ=39.44;MQ0=0;OQ=71.48;QD=0.28;SB=245.79 GT:AD:DP:GL:GQ 0/1:233,19:178:-64.05,-53.62,-575.35:99 -chr1 4899560 . A G 527.43 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=244;Dels=0.00;HRun=0;HaplotypeScore=182.32;MQ=39.84;MQ0=0;QD=2.16;SB=62.05 GT:AD:DP:GL:GQ 0/1:191,43:207:-132.12,-76.10,-688.26:99 -chr1 4899566 . C T 228.85 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=230;Dels=0.00;HRun=0;HaplotypeScore=151.86;MQ=39.79;MQ0=0;QD=0.99;SB=29.83 GT:AD:DP:GL:GQ 0/1:207,23:173:-78.29,-52.12,-551.64:99 -chr1 4899567 . A G 591.79 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=224;Dels=0.00;HRun=0;HaplotypeScore=146.70;MQ=39.85;MQ0=0;QD=2.64;SB=-287.04 GT:AD:DP:GL:GQ 0/1:172,52:165:-112.16,-49.70,-538.18:99 -chr1 4899578 . G A 586.91 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=167;Dels=0.00;HRun=1;HaplotypeScore=122.95;MQ=41.57;MQ0=0;QD=3.51;SB=-235.54 GT:AD:DP:GL:GQ 0/1:137,30:123:-99.03,-37.05,-345.51:99 -chr1 4899580 . G A 442.86 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=161;Dels=0.00;HRun=0;HaplotypeScore=120.46;MQ=41.82;MQ0=0;QD=2.75;SB=-225.49 GT:AD:DP:GL:GQ 0/1:135,26:120:-83.72,-36.15,-349.19:99 -chr1 4899586 . T C 690.02 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=149;Dels=0.00;HRun=1;HaplotypeScore=129.55;MQ=42.82;MQ0=0;QD=4.63;SB=-75.61 GT:AD:DP:GL:GQ 0/1:103,46:129:-111.14,-38.86,-403.04:99 -chr1 4899587 . G A 484.27 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=146;Dels=0.00;HRun=0;HaplotypeScore=116.82;MQ=42.67;MQ0=0;QD=3.32;SB=137.44 GT:AD:DP:GL:GQ 0/1:119,26:124:-89.06,-37.35,-358.44:99 -chr1 4899593 . C T 11.57 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=117;Dels=0.00;HRun=0;HaplotypeScore=60.92;MQ=43.18;MQ0=0;QD=0.10;SB=158.52 GT:AD:DP:GL:GQ 0/1:100,17:99:-34.23,-29.82,-323.42:44.09 -chr1 4899594 . A G 11.09 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=116;Dels=0.00;HRun=0;HaplotypeScore=60.92;MQ=43.00;MQ0=0;QD=0.10;SB=173.58 GT:AD:DP:GL:GQ 0/1:99,17:103:-35.39,-31.03,-369.44:43.58 -chr1 4899610 . C T 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=0;HaplotypeScore=9.15;MQ=43.55;MQ0=0;OQ=197.17;QD=2.22;SB=-29.37 GT:AD:DP:GL:GQ 0/1:75,14:86:-48.93,-25.93,-238.79:99 -chr1 4899946 rs4654471 T C 43.86 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=5.91;MQ=59.14;MQ0=0;OQ=975.13;QD=18.06;SB=-440.01 GT:AD:DP:GL:GQ 0/1:20,34:52:-116.46,-15.67,-76.61:99 -chr1 4902227 rs7555212 C T 596.69 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.48;MQ0=0;OQ=2926.83;QD=40.65;SB=-1218.62 GT:AD:DP:GL:GQ 1/1:0,72:72:-296.28,-21.69,-0.02:99 -chr1 4902317 rs6426367 G T 224.74 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=2;HaplotypeScore=-0.06;MQ=59.74;MQ0=0;OQ=3145.50;QD=36.16;SB=-1581.61 GT:AD:DP:GL:GQ 1/1:0,87:85:-318.15,-25.60,-0.02:99 -chr1 4902486 rs6426368 C T 717.48 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.86;MQ0=0;OQ=2201.20;QD=38.62;SB=-1092.00 GT:AD:DP:GL:GQ 1/1:0,57:56:-223.72,-16.87,-0.02:99 -chr1 4902573 rs6669905 T C 700.95 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.30;MQ0=0;OQ=2165.11;QD=36.09;SB=-859.36 GT:AD:DP:GL:GQ 1/1:0,60:59:-220.11,-17.77,-0.01:99 -chr1 4903007 rs6678838 G T 279.14 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=56.35;MQ0=0;OQ=1768.51;QD=34.01;SB=-813.84 GT:AD:DP:GL:GQ 1/1:0,52:50:-180.45,-15.06,-0.02:99 -chr1 4903027 rs12142452 G T 0 FDRtranche2.00to10.00+ AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.05;HRun=16;HaplotypeScore=13.19;MQ=49.10;MQ0=0;OQ=2384.03;QD=31.37;SB=-1040.48 GT:AD:DP:GL:GQ 1/1:0,72:70:-242.01,-20.48,-0.02:99 -chr1 4903364 rs9286971 G A 258.61 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=52.70;MQ0=0;OQ=2159.66;QD=37.89;SB=-926.32 GT:AD:DP:GL:GQ 1/1:0,57:54:-219.56,-16.27,-0.01:99 -chr1 4904108 rs10799141 A G 488.42 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.61;MQ0=0;OQ=2393.63;QD=33.71;SB=-1173.70 GT:AD:DP:GL:GQ 1/1:0,71:69:-242.98,-20.79,-0.03:99 -chr1 4904115 rs10753341 C T 707.52 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.70;MQ0=0;OQ=2995.63;QD=39.42;SB=-1442.45 GT:AD:DP:GL:GQ 1/1:0,76:76:-303.17,-22.90,-0.02:99 -chr1 4904188 rs10753342 G A 611.86 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3529.10;QD=39.65;SB=-1221.14 GT:AD:DP:GL:GQ 1/1:0,89:89:-351.91,-26.82,-0.03:99 -chr1 4905340 rs7531490 A G 249.81 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=58.93;MQ0=0;OQ=2004.17;QD=30.83;SB=-867.03 GT:AD:DP:GL:GQ 1/1:0,65:64:-204.06,-19.31,-0.06:99 -chr1 4905635 rs7534281 T C 82.15 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=2.19;MQ=59.65;MQ0=0;OQ=2315.03;QD=35.08;SB=-1175.74 GT:AD:DP:GL:GQ 1/1:0,66:65:-235.11,-19.58,-0.02:99 -chr1 4905656 rs7542048 G A 139.59 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.78;MQ=59.63;MQ0=0;OQ=2472.89;QD=39.25;SB=-1234.03 GT:AD:DP:GL:GQ 1/1:0,62:62:-250.89,-18.68,-0.02:99 -chr1 4906196 rs6426371 T C 169.21 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=58.85;MQ0=0;OQ=1914.58;QD=30.88;SB=-835.64 GT:AD:DP:GL:GQ 1/1:0,62:59:-195.09,-17.79,-0.04:99 -chr1 4906502 rs6426372 G C 538.03 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.04;MQ0=0;OQ=3170.49;QD=42.84;SB=-1473.31 GT:AD:DP:GL:GQ 1/1:0,73:73:-320.65,-21.99,-0.02:99 -chr1 4907095 rs10915296 T C 149.48 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=1;HaplotypeScore=1.07;MQ=58.97;MQ0=0;OQ=3030.02;QD=34.83;SB=-1495.63 GT:AD:DP:GL:GQ 1/1:0,87:84:-306.61,-25.30,-0.03:99 -chr1 4907407 rs6702058 C T 201.43 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.82;MQ=59.72;MQ0=0;OQ=3144.08;QD=38.34;SB=-1502.68 GT:AD:DP:GL:GQ 1/1:0,81:79:-318.01,-23.80,-0.02:99 -chr1 4907813 rs6677619 G T 634.30 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=2646.47;QD=36.25;SB=-1071.58 GT:AD:DP:GL:GQ 1/1:0,73:72:-268.25,-21.68,-0.02:99 -chr1 4909109 rs7413385 A G 73.69 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.58;MQ=58.33;MQ0=0;OQ=950.25;QD=33.94;SB=-350.81 GT:AD:DP:GL:GQ 1/1:0,28:27:-98.62,-8.13,-0.01:81.24 -chr1 4909713 rs7413847 A G 78.92 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=1.66;MQ=58.99;MQ0=0;OQ=2491.44;QD=34.13;SB=-1130.80 GT:AD:DP:GL:GQ 1/1:0,72:69:-252.75,-20.78,-0.02:99 -chr1 4909933 rs7411727 C T 614.98 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.37;MQ0=0;OQ=2836.35;QD=38.85;SB=-1407.70 GT:AD:DP:GL:GQ 1/1:0,73:71:-287.24,-21.39,-0.02:99 -chr1 4910002 rs10915297 T C 288.13 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.37;MQ0=0;OQ=2563.56;QD=35.12;SB=-1064.10 GT:AD:DP:GL:GQ 1/1:0,73:72:-259.97,-21.69,-0.02:99 -chr1 4910067 rs10799142 G A 129.23 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=2.67;MQ=58.55;MQ0=0;OQ=2372.23;QD=38.89;SB=-1035.39 GT:AD:DP:GL:GQ 1/1:0,61:60:-240.82,-18.08,-0.02:99 -chr1 4910738 rs6426373 T C 29.48 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=4;HaplotypeScore=1.33;MQ=59.62;MQ0=0;OQ=2095.65;QD=34.35;SB=-1007.72 GT:AD:DP:GL:GQ 1/1:0,61:59:-213.17,-17.77,-0.02:99 -chr1 4910848 rs6664358 C T 341.96 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.71;MQ0=0;OQ=2577.25;QD=39.65;SB=-933.73 GT:AD:DP:GL:GQ 1/1:0,65:64:-261.33,-19.28,-0.02:99 -chr1 4911242 rs9426489 G T 99.79 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.42;MQ=59.58;MQ0=0;OQ=1563.55;QD=28.43;SB=-641.98 GT:AD:DP:GL:GQ 1/1:2,53:45:-159.96,-13.56,-0.02:99 -chr1 4911262 rs9426490 A G 133.69 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=1.03;MQ=60.00;MQ0=0;OQ=2076.79;QD=34.05;SB=-972.82 GT:AD:DP:GL:GQ 1/1:0,61:59:-211.29,-17.77,-0.02:99 -chr1 4911898 rs7522655 C T 592.58 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=2724.61;QD=40.67;SB=-1189.07 GT:AD:DP:GL:GQ 1/1:0,67:67:-276.06,-20.18,-0.01:99 -chr1 4911961 rs7544541 G A 150.94 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=1.61;MQ=59.39;MQ0=0;OQ=2947.98;QD=38.79;SB=-1404.70 GT:AD:DP:GL:GQ 1/1:1,75:74:-298.40,-22.29,-0.02:99 -chr1 4911968 rs7544542 G A 170.72 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.82;MQ=59.72;MQ0=0;OQ=3112.64;QD=37.96;SB=-1553.08 GT:AD:DP:GL:GQ 1/1:0,82:78:-314.87,-23.50,-0.02:99 -chr1 4912150 rs9426469 G A 193 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.69;MQ0=0;OQ=2864.62;QD=38.19;SB=-1302.32 GT:AD:DP:GL:GQ 1/1:0,75:72:-290.07,-21.69,-0.02:99 -chr1 4913505 rs9426491 A G 394.38 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.04;MQ0=0;OQ=3121.73;QD=35.88;SB=-1295.55 GT:AD:DP:GL:GQ 1/1:0,87:85:-315.78,-25.60,-0.02:99 -chr1 4914443 rs6692780 T C 192.39 PASS AC=2;AF=1.00;AN=2;DB;DP=103;Dels=0.00;HRun=0;HaplotypeScore=2.33;MQ=59.62;MQ0=0;OQ=3691.18;QD=35.84;SB=-1586.36 GT:AD:DP:GL:GQ 1/1:1,102:102:-368.12,-30.72,-0.04:99 -chr1 4914588 rs6701289 G A 24.03 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=4;HaplotypeScore=1.20;MQ=58.58;MQ0=0;OQ=3206.41;QD=40.08;SB=-1396.85 GT:AD:DP:GL:GQ 1/1:0,80:78:-324.24,-23.49,-0.01:99 -chr1 4915327 rs6693486 A T 79.70 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=3;HaplotypeScore=0.67;MQ=59.04;MQ0=0;OQ=2495.92;QD=36.70;SB=-983.49 GT:AD:DP:GL:GQ 1/1:0,68:67:-253.20,-20.19,-0.02:99 -chr1 4915704 rs6656223 G A 492.16 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1843.82;QD=39.23;SB=-720.96 GT:AD:DP:GL:GQ 1/1:0,47:46:-187.98,-13.86,-0.01:99 -chr1 4917206 rs12098076 G A 321.24 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.82;MQ=59.37;MQ0=0;OQ=1024.17;QD=17.36;SB=-411.74 GT:AD:DP:GL:GQ 0/1:27,32:58:-123.18,-17.47,-93.16:99 -chr1 4918178 rs9426470 C A 210.31 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=2272.14;QD=33.41;SB=-999.37 GT:AD:DP:GL:GQ 1/1:0,68:66:-230.83,-19.89,-0.03:99 -chr1 4918637 rs6696925 G C 480.06 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.39;MQ0=0;OQ=1020.90;QD=16.74;SB=-452.39 GT:AD:DP:GL:GQ 0/1:33,28:59:-123.15,-17.78,-134.82:99 -chr1 4920934 rs7546019 A G 7.79 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=3.94;MQ=55.17;MQ0=0;OQ=1312.69;QD=25.74;SB=-576.91 GT:AD:DP:GL:GQ 1/1:0,51:42:-134.90,-12.67,-0.04:99 -chr1 4920939 rs10799143 A G 1.06 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=9.55;MQ=55.37;MQ0=0;OQ=685.84;QD=14.29;SB=-109.82 GT:AD:DP:GL:GQ 1/1:0,38:24:-75.74,-10.17,-3.57:66.02 -chr1 4920972 rs10753343 C T 150.22 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=58.67;MQ0=0;OQ=1219.60;QD=34.85;SB=-488.14 GT:AD:DP:GL:GQ 1/1:0,34:33:-125.56,-9.95,-0.02:99 -chr1 4921030 rs10799144 A G 161.31 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=1;HaplotypeScore=1.20;MQ=58.57;MQ0=0;OQ=1984.77;QD=33.64;SB=-769.10 GT:AD:DP:GL:GQ 1/1:0,59:57:-202.08,-17.17,-0.02:99 -chr1 4921060 rs10799145 T G 245.52 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.09;MQ=58.90;MQ0=0;OQ=1759.60;QD=29.82;SB=-867.69 GT:AD:DP:GL:GQ 1/1:0,59:58:-179.61,-17.49,-0.06:99 -chr1 4921319 . C T 71.66 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=56.87;MQ0=0;OQ=1537.50;QD=20.78;SB=-754.34 GT:AD:DP:GL:GQ 0/1:29,45:71:-178.43,-21.40,-86.91:99 -chr1 4921542 . G A 297.10 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.57;MQ0=0;OQ=827.15;QD=15.32;SB=-385.90 GT:AD:DP:GL:GQ 0/1:29,25:54:-102.27,-16.28,-92.99:99 -chr1 4921651 . A G 14.60 PASS AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=3;HaplotypeScore=0.89;MQ=59.42;MQ0=0;OQ=1167.54;QD=16.22;SB=-587.69 GT:AD:DP:GL:GQ 0/1:31,41:71:-141.43,-21.39,-125.09:99 -chr1 4921748 . T C 1.07 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=7.77;MQ=59.39;MQ0=0;OQ=610.60;QD=12.72;SB=-231.30 GT:AD:DP:GL:GQ 0/1:26,22:47:-78.51,-14.17,-96.88:99 -chr1 4921801 . A G 290.73 PASS AC=1;AF=0.50;AN=2;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=740.93;QD=13.98;SB=-339.17 GT:AD:DP:GL:GQ 0/1:24,29:53:-93.36,-15.98,-94.97:99 -chr1 4921915 rs12118118 A G 141.47 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.35;MQ=59.65;MQ0=0;OQ=641.25;QD=9.87;SB=-176.55 GT:AD:DP:GL:GQ 0/1:39,26:63:-86.39,-18.98,-152.81:99 -chr1 4922627 rs12119864 T C 423.73 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=58.63;MQ0=0;OQ=1289.06;QD=15.17;SB=-556.56 GT:AD:DP:GL:GQ 0/1:33,52:81:-156.60,-24.41,-132.69:99 -chr1 4923016 rs6426374 A G 591.79 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.54;MQ0=0;OQ=2408.23;QD=29.37;SB=-1057.43 GT:AD:DP:GL:GQ 1/1:0,82:76:-244.48,-22.92,-0.07:99 -chr1 4923151 . C T 132.84 PASS AC=1;AF=0.50;AN=2;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.33;MQ0=0;OQ=908.76;QD=16.23;SB=-453.45 GT:AD:DP:GL:GQ 0/1:28,28:56:-111.04,-16.88,-89.80:99 -chr1 4923249 . A G 76.65 PASS AC=1;AF=0.50;AN=2;DP=44;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=58.95;MQ0=0;OQ=491.85;QD=11.18;SB=-227.32 GT:AD:DP:GL:GQ 0/1:25,19:38:-63.92,-11.45,-77.07:99 -chr1 4923272 . A G 41.93 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=2.77;MQ=59.16;MQ0=0;OQ=549.57;QD=9.99;SB=-300.17 GT:AD:DP:GL:GQ 0/1:32,23:55:-74.82,-16.58,-127.48:99 -chr1 4923290 rs6702660 A G 624.31 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1543.54;QD=30.27;SB=-737.76 GT:AD:DP:GL:GQ 1/1:0,51:50:-157.99,-15.08,-0.05:99 -chr1 4923916 . G A 53.20 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=57.14;MQ0=0;OQ=1330.08;QD=17.97;SB=-412.89 GT:AD:DP:GL:GQ 0/1:35,39:72:-157.99,-21.70,-107.79:99 -chr1 4923977 . T C 92.93 PASS AC=1;AF=0.50;AN=2;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.60;MQ=56.31;MQ0=0;OQ=878.08;QD=13.94;SB=-397.92 GT:AD:DP:GL:GQ 0/1:29,34:62:-109.78,-18.69,-109.67:99 -chr1 4924245 rs7523398 G T 624.90 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.01;HRun=0;HaplotypeScore=0.00;MQ=52.50;MQ0=0;OQ=2976.14;QD=35.01;SB=-1222.44 GT:AD:DP:GL:GQ 1/1:0,84:82:-301.22,-24.40,-0.02:99 -chr1 4924289 . C T 145.80 Indel AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=1;HaplotypeScore=20.35;MQ=47.42;MQ0=2;QD=1.80;SB=-17.33 GT:AD:DP:GL:GQ 0/1:69,12:76:-40.75,-22.89,-240.21:99 -chr1 4924318 . A G 303.69 PASS AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.53;MQ0=0;OQ=1150.10;QD=15.13;SB=-395.92 GT:AD:DP:GL:GQ 0/1:29,47:72:-140.00,-21.70,-115.03:99 -chr1 4924353 . A G 6.39 PASS AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=1;HaplotypeScore=4.52;MQ=59.31;MQ0=0;OQ=1199.85;QD=16.00;SB=-524.06 GT:AD:DP:GL:GQ 0/1:32,42:73:-145.26,-21.99,-127.06:99 -chr1 4924370 . T G 76.39 PASS AC=1;AF=0.50;AN=2;DP=78;Dels=0.00;HRun=0;HaplotypeScore=1.99;MQ=60.52;MQ0=0;OQ=1415.60;QD=18.15;SB=-500.81 GT:AD:DP:GL:GQ 0/1:31,47:78:-168.34,-23.49,-113.39:99 -chr1 4924651 rs140619 A C 98.30 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=1.45;MQ=58.44;MQ0=0;OQ=1008.29;QD=14.00;SB=-504.32 GT:AD:DP:GL:GQ 0/1:36,36:69:-124.90,-20.78,-122.36:99 -chr1 4924659 rs140620 C G 66.97 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=2;HaplotypeScore=3.55;MQ=58.47;MQ0=0;OQ=1278.05;QD=17.51;SB=-626.38 GT:AD:DP:GL:GQ 0/1:37,36:72:-152.80,-21.71,-149.62:99 -chr1 4924842 rs3101217 G A 427.04 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.23;MQ=60.00;MQ0=0;OQ=946.64;QD=12.46;SB=-438.36 GT:AD:DP:GL:GQ 0/1:44,31:68:-118.44,-20.49,-128.20:99 -chr1 4924889 rs3101218 G C 576.23 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1334.27;QD=16.68;SB=-624.99 GT:AD:DP:GL:GQ 0/1:41,39:77:-159.91,-23.20,-177.20:99 -chr1 4924920 rs3101219 T C 593.97 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.64;MQ0=0;OQ=1041.98;QD=16.28;SB=-455.18 GT:AD:DP:GL:GQ 0/1:28,36:64:-126.76,-19.28,-110.51:99 -chr1 4924999 rs3101220 G C 298.13 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=59.20;MQ0=0;OQ=811.79;QD=14.00;SB=-233.01 GT:AD:DP:GL:GQ 0/1:32,26:57:-101.64,-17.18,-138.57:99 -chr1 4925039 rs3128678 A G 0.26 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=4;HaplotypeScore=3.38;MQ=59.22;MQ0=0;OQ=1744.26;QD=32.30;SB=-816.04 GT:AD:DP:GL:GQ 1/1:0,54:50:-178.03,-15.06,-0.02:99 -chr1 4925077 rs3101221 C A 25.14 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=6.44;MQ=58.58;MQ0=0;OQ=647.61;QD=11.56;SB=-325.00 GT:AD:DP:GL:GQ 0/1:30,26:49:-82.82,-14.77,-78.79:99 -chr1 4925169 rs3128679 A G 107.98 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.44;MQ=60.00;MQ0=0;OQ=535.15;QD=8.92;SB=-144.42 GT:AD:DP:GL:GQ 0/1:36,24:59:-74.58,-17.78,-140.21:99 -chr1 4925429 rs3128680 G A 469.33 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=766.43;QD=14.46;SB=-348.86 GT:AD:DP:GL:GQ 0/1:29,24:53:-95.89,-15.97,-104.44:99 -chr1 4925430 rs3101222 C G 427.23 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=771.83;QD=15.13;SB=-299.97 GT:AD:DP:GL:GQ 0/1:28,23:50:-95.55,-15.08,-110.57:99 -chr1 4925635 rs3101223 A G 252.82 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=59.74;MQ0=0;OQ=1091.51;QD=12.26;SB=-378.11 GT:AD:DP:GL:GQ 0/1:48,41:87:-138.64,-26.21,-194.64:99 -chr1 4926101 rs3128681 G A 350.75 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.95;MQ=59.68;MQ0=0;OQ=1174.87;QD=16.55;SB=-610.10 GT:AD:DP:GL:GQ 0/1:35,35:70:-141.86,-21.09,-114.49:99 -chr1 4926299 rs1017724 C T 190.62 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=1174.58;QD=15.06;SB=-383.10 GT:AD:DP:GL:GQ 0/1:41,37:77:-143.94,-23.19,-149.98:99 -chr1 4926372 rs1017726 A G 298.07 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.12;MQ=60.00;MQ0=0;OQ=887.74;QD=17.07;SB=-423.28 GT:AD:DP:GL:GQ 0/1:22,30:52:-107.72,-15.67,-84.02:99 -chr1 4926476 rs3128682 A G 470.65 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=981.70;QD=13.27;SB=-502.91 GT:AD:DP:GL:GQ 0/1:33,41:71:-122.87,-21.41,-123.57:99 -chr1 4926532 rs3128683 G T 372.36 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.69;MQ0=0;OQ=1069.82;QD=14.26;SB=-471.94 GT:AD:DP:GL:GQ 0/1:37,38:72:-131.95,-21.69,-128.03:99 -chr1 4926586 rs34841047 T C 307.90 PASS AC=1;AF=0.50;AN=2;DB;DP=90;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.74;MQ0=0;OQ=1407.30;QD=15.64;SB=-662.64 GT:AD:DP:GL:GQ 0/1:42,48:89:-170.82,-26.81,-167.25:99 -chr1 4926613 rs7547938 A C 101.18 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=59.79;MQ0=0;OQ=2670.20;QD=30.00;SB=-1246.34 GT:AD:DP:GL:GQ 1/1:1,88:87:-270.68,-26.22,-0.07:99 -chr1 4926617 . G A 38.65 PASS AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=1;HaplotypeScore=1.60;MQ=59.78;MQ0=0;OQ=1691.34;QD=19.90;SB=-782.69 GT:AD:DP:GL:GQ 0/1:36,49:84:-197.72,-25.30,-133.23:99 -chr1 4926705 rs10799146 C G 149.65 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=59.64;MQ0=0;OQ=2201.93;QD=42.34;SB=-980.37 GT:AD:DP:GL:GQ 1/1:0,52:52:-223.80,-15.67,-0.02:99 -chr1 4926719 . T C 99.55 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.78;MQ=59.60;MQ0=0;OQ=721.00;QD=12.65;SB=-331.93 GT:AD:DP:GL:GQ 0/1:26,31:55:-91.96,-16.58,-103.71:99 -chr1 4926770 . T G 92.62 PASS AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=1;HaplotypeScore=1.63;MQ=58.93;MQ0=0;OQ=842.91;QD=13.82;SB=-346.83 GT:AD:DP:GL:GQ 0/1:28,33:58:-105.05,-17.47,-101.93:99 -chr1 4926781 rs10915300 G A 186.83 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.76;MQ=58.91;MQ0=0;OQ=2257.64;QD=37.63;SB=-1055.32 GT:AD:DP:GL:GQ 1/1:0,60:57:-229.37,-17.17,-0.02:99 -chr1 4927339 rs6426375 C A 293.44 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=1.65;MQ=59.63;MQ0=0;OQ=1104.83;QD=17.54;SB=-437.22 GT:AD:DP:GL:GQ 0/1:25,38:59:-131.54,-17.77,-79.77:99 -chr1 4927361 rs12122012 G C 449.67 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=855.62;QD=14.50;SB=-302.94 GT:AD:DP:GL:GQ 0/1:34,25:57:-106.02,-17.18,-140.73:99 -chr1 4927449 rs12129823 C A 265.42 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.57;MQ=58.95;MQ0=0;OQ=867.88;QD=14.00;SB=-380.76 GT:AD:DP:GL:GQ 0/1:32,30:60:-108.15,-18.08,-97.33:99 -chr1 4927847 rs12122183 G A 490.19 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.45;MQ0=0;OQ=1239.90;QD=16.31;SB=-577.98 GT:AD:DP:GL:GQ 0/1:38,38:75:-149.87,-22.60,-137.70:99 -chr1 4928324 rs10799147 T G 316.36 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=59.64;MQ0=0;OQ=672.70;QD=12.94;SB=-277.80 GT:AD:DP:GL:GQ 0/1:27,25:51:-85.91,-15.36,-101.41:99 -chr1 4928782 . A T 20.70 PASS AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=58.98;MQ0=0;OQ=748.61;QD=18.26;SB=-256.98 GT:AD:DP:GL:GQ 0/1:17,24:41:-90.49,-12.35,-66.37:99 -chr1 4930115 rs10799148 T G 517.72 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.72;MQ0=0;OQ=2291.16;QD=34.71;SB=-1027.09 GT:AD:DP:GL:GQ 1/1:0,66:65:-232.72,-19.58,-0.02:99 -chr1 4930427 rs34645017 G C 291.45 PASS AC=1;AF=0.50;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=722.42;QD=16.05;SB=-202.61 GT:AD:DP:GL:GQ 0/1:25,20:45:-89.08,-13.56,-109.77:99 -chr1 4930735 rs11578909 A G 280.08 PASS AC=1;AF=0.50;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=59.36;MQ0=0;OQ=698.77;QD=12.05;SB=-374.99 GT:AD:DP:GL:GQ 0/1:29,28:57:-90.34,-17.18,-117.72:99 -chr1 4931239 rs10799149 G A 641.63 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.08;MQ0=0;OQ=2438.74;QD=39.98;SB=-916.20 GT:AD:DP:GL:GQ 1/1:0,61:60:-247.47,-18.07,-0.01:99 -chr1 4931421 rs7518523 A G 261.63 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.88;MQ0=0;OQ=2083.34;QD=31.09;SB=-1042.40 GT:AD:DP:GL:GQ 1/1:0,67:65:-211.96,-19.60,-0.05:99 -chr1 4931997 rs10753344 T C 618.70 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2888.62;QD=33.98;SB=-1001.71 GT:AD:DP:GL:GQ 1/1:0,85:82:-292.48,-24.71,-0.04:99 -chr1 4932316 rs12127329 G A 183.50 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=60.00;MQ0=0;OQ=2411.54;QD=39.53;SB=-1136.02 GT:AD:DP:GL:GQ 1/1:0,61:61:-244.76,-18.38,-0.02:99 -chr1 4932881 rs11585724 C T 291.52 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.68;MQ=59.24;MQ0=0;OQ=985.86;QD=16.16;SB=-484.11 GT:AD:DP:GL:GQ 0/1:30,31:59:-119.65,-17.78,-92.67:99 -chr1 4932899 rs56016205 G C 205.73 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.90;MQ=58.78;MQ0=0;OQ=942.89;QD=16.54;SB=-283.52 GT:AD:DP:GL:GQ 0/1:30,27:56:-114.45,-16.88,-128.26:99 -chr1 4933102 rs56190527 G A 17.84 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=7.39;MQ=59.07;MQ0=0;OQ=754.79;QD=15.10;SB=-398.92 GT:AD:DP:GL:GQ 0/1:26,24:48:-93.22,-14.46,-90.86:99 -chr1 4933190 rs56216708 T C 104.26 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=1;HaplotypeScore=0.32;MQ=59.13;MQ0=0;OQ=1884.00;QD=35.55;SB=-879.00 GT:AD:DP:GL:GQ 1/1:0,53:53:-192.00,-15.97,-0.02:99 -chr1 4933296 . G A 768.22 SnpCluster AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.45;MQ0=0;QD=12.59;SB=-376.12 GT:AD:DP:GL:GQ 0/1:35,26:58:-97.59,-17.48,-110.76:99 -chr1 4933297 . C T 815.45 SnpCluster AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.45;MQ0=0;QD=13.37;SB=-431.91 GT:AD:DP:GL:GQ 0/1:35,26:61:-103.20,-18.37,-126.35:99 -chr1 4933303 . G A 803.12 SnpCluster AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.37;MQ0=0;QD=13.39;SB=-365.85 GT:AD:DP:GL:GQ 0/1:35,25:58:-101.08,-17.48,-105.94:99 -chr1 4933521 rs7535462 G A 371.82 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.07;MQ0=0;OQ=1957.02;QD=39.14;SB=-986.02 GT:AD:DP:GL:GQ 1/1:0,50:49:-199.30,-14.76,-0.01:99 -chr1 4933673 . C G 6.69 PASS AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=58.23;MQ0=0;OQ=1494.10;QD=22.64;SB=-505.26 GT:AD:DP:GL:GQ 0/1:26,40:63:-171.68,-18.99,-100.63:99 -chr1 4934014 rs12128545 G A 43.64 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=2;HaplotypeScore=0.74;MQ=59.66;MQ0=0;OQ=1421.27;QD=20.90;SB=-664.71 GT:AD:DP:GL:GQ 0/1:27,41:67:-165.59,-20.18,-95.71:99 -chr1 4934078 rs12136209 C G 149.50 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.61;MQ=60.00;MQ0=0;OQ=1636.42;QD=21.82;SB=-832.32 GT:AD:DP:GL:GQ 0/1:31,44:75:-189.53,-22.60,-132.33:99 -chr1 4934416 rs12126894 T G 441.68 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=56.57;MQ0=0;OQ=586.00;QD=11.49;SB=-304.83 GT:AD:DP:GL:GQ 0/1:29,22:51:-77.25,-15.36,-105.02:99 -chr1 4935048 rs10915303 A G 334.36 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.69;MQ=51.50;MQ0=0;OQ=770.15;QD=12.84;SB=-364.97 GT:AD:DP:GL:GQ 0/1:27,33:52:-95.98,-15.68,-87.76:99 -chr1 4935474 rs34001007 G A 343.02 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=962.36;QD=16.88;SB=-495.13 GT:AD:DP:GL:GQ 0/1:27,30:56:-116.40,-16.88,-86.00:99 -chr1 4935789 rs12128035 T C 226.01 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.43;MQ=58.94;MQ0=0;OQ=796.37;QD=12.64;SB=-306.28 GT:AD:DP:GL:GQ 0/1:34,29:62:-101.60,-18.68,-137.85:99 -chr1 4936034 rs6689050 G C 388.76 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.58;MQ0=0;OQ=1874.06;QD=42.59;SB=-652.91 GT:AD:DP:GL:GQ 1/1:0,44:44:-191.00,-13.26,-0.01:99 -chr1 4936094 rs12757902 G A 302.17 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=59.62;MQ0=0;OQ=578.28;QD=11.80;SB=-268.20 GT:AD:DP:GL:GQ 0/1:27,21:43:-74.09,-12.98,-70.80:99 -chr1 4936362 rs12126016 G T 367.30 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.41;MQ0=0;OQ=1064.42;QD=14.99;SB=-543.63 GT:AD:DP:GL:GQ 0/1:34,37:71:-131.11,-21.39,-120.19:99 -chr1 4936409 rs11581023 G A 329.13 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=2.47;MQ=58.70;MQ0=0;OQ=1088.63;QD=16.49;SB=-413.38 GT:AD:DP:GL:GQ 0/1:32,34:63:-131.13,-18.99,-102.39:99 -chr1 4936482 rs12122541 A G 353.13 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=58.04;MQ0=0;OQ=684.77;QD=12.45;SB=-247.32 GT:AD:DP:GL:GQ 0/1:27,28:52:-87.43,-15.67,-100.04:99 -chr1 4936602 rs11584985 C T 191.63 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.33;MQ=59.29;MQ0=0;OQ=1088.30;QD=18.45;SB=-387.41 GT:AD:DP:GL:GQ 0/1:25,34:57:-129.30,-17.18,-77.34:99 -chr1 4936637 rs898335 T G 589.23 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.37;MQ0=0;OQ=2347.69;QD=35.57;SB=-808.10 GT:AD:DP:GL:GQ 1/1:0,66:66:-238.37,-19.88,-0.02:99 -chr1 4937911 rs12739724 G A 135.48 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=59.34;MQ0=0;OQ=1173.07;QD=20.58;SB=-518.55 GT:AD:DP:GL:GQ 0/1:24,33:57:-137.76,-17.17,-89.96:99 -chr1 4937953 rs6666618 A C 126.74 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=2.81;MQ=60.00;MQ0=0;OQ=1008.55;QD=15.28;SB=-391.76 GT:AD:DP:GL:GQ 0/1:30,36:65:-123.72,-19.58,-111.64:99 -chr1 4939240 rs1841241 A G 358.83 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.81;MQ=59.68;MQ0=0;OQ=900.69;QD=12.34;SB=-390.90 GT:AD:DP:GL:GQ 0/1:37,36:72:-115.05,-21.70,-146.81:99 -chr1 4939654 rs6660626 C G 245.03 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=1.40;MQ=59.55;MQ0=0;OQ=1495.04;QD=18.01;SB=-651.03 GT:AD:DP:GL:GQ 0/1:41,42:81:-177.21,-24.42,-163.44:99 -chr1 4940611 . A G 75.27 PASS AC=1;AF=0.50;AN=2;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=59.50;MQ0=0;OQ=761.25;QD=16.55;SB=-322.41 GT:AD:DP:GL:GQ 0/1:18,28:44:-92.67,-13.26,-69.31:99 -chr1 4941180 rs12138041 C G 147.56 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=59.43;MQ0=0;OQ=1446.36;QD=22.25;SB=-675.09 GT:AD:DP:GL:GQ 0/1:27,38:64:-167.20,-19.28,-114.12:99 -chr1 4941754 rs6426376 A C 0.05 FDRtranche0.10to1.00 AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=6;HaplotypeScore=1.65;MQ=58.89;MQ0=0;OQ=2125.54;QD=33.74;SB=-942.08 GT:AD:DP:GL:GQ 1/1:0,63:61:-216.16,-18.37,-0.02:99 -chr1 4942581 . C G 69.18 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.19;MQ0=0;OQ=1081.86;QD=18.98;SB=-432.32 GT:AD:DP:GL:GQ 0/1:28,29:57:-128.65,-17.18,-121.65:99 -chr1 4942801 rs12132419 G A 594.05 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.75;MQ0=0;OQ=1256.99;QD=16.76;SB=-497.49 GT:AD:DP:GL:GQ 0/1:35,40:73:-150.98,-21.99,-126.45:99 -chr1 4943594 rs1563791 C A 403.62 PASS AC=1;AF=0.50;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.16;MQ=58.68;MQ0=0;OQ=828.65;QD=15.63;SB=-357.20 GT:AD:DP:GL:GQ 0/1:25,28:53:-102.11,-15.96,-89.65:99 -chr1 4943942 rs10737391 T A 518.14 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.47;MQ0=0;OQ=2837.87;QD=37.84;SB=-993.50 GT:AD:DP:GL:GQ 1/1:0,75:74:-287.39,-22.29,-0.02:99 -chr1 4943949 rs6674570 C G 129.66 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=57.29;MQ0=0;OQ=3029.36;QD=43.28;SB=-1059.65 GT:AD:DP:GL:GQ 1/1:0,70:69:-306.54,-20.79,-0.02:99 -chr1 4943976 rs6689766 T C 365.66 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=56.77;MQ0=0;OQ=827.54;QD=14.03;SB=-391.26 GT:AD:DP:GL:GQ 0/1:29,30:57:-103.21,-17.17,-110.62:99 -chr1 4943997 rs6698166 G T 369.44 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=57.73;MQ0=0;OQ=860.15;QD=13.87;SB=-411.14 GT:AD:DP:GL:GQ 0/1:31,31:60:-107.37,-18.08,-104.72:99 -chr1 4943998 rs6698167 G A 353.24 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=57.73;MQ0=0;OQ=1051.24;QD=16.96;SB=-519.06 GT:AD:DP:GL:GQ 0/1:30,32:61:-126.79,-18.38,-103.11:99 -chr1 4944360 rs12131010 A G 342.06 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=58.85;MQ0=0;OQ=760.68;QD=9.88;SB=-317.87 GT:AD:DP:GL:GQ 0/1:43,34:75:-101.96,-22.60,-172.57:99 -chr1 4944890 rs1106586 G A 276.08 PASS AC=1;AF=0.50;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=1.40;MQ=59.59;MQ0=0;OQ=802.40;QD=14.33;SB=-392.78 GT:AD:DP:GL:GQ 0/1:30,26:55:-100.10,-16.58,-95.63:99 -chr1 4945646 rs898336 G C 25.91 PASS AC=2;AF=1.00;AN=2;DB;DP=96;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=56.72;MQ0=0;OQ=4154.41;QD=43.28;SB=-1921.01 GT:AD:DP:GL:GQ 1/1:0,96:94:-414.44,-28.32,-0.03:99 -chr1 4945654 rs7417805 T C 207.20 PASS AC=2;AF=1.00;AN=2;DB;DP=101;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=56.30;MQ0=0;OQ=3685.03;QD=36.49;SB=-1843.78 GT:AD:DP:GL:GQ 1/1:0,101:100:-367.50,-30.12,-0.02:99 -chr1 4946090 rs12046931 C T 231 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=2.55;MQ=56.28;MQ0=0;OQ=1030.23;QD=13.56;SB=-511.04 GT:AD:DP:GL:GQ 0/1:44,32:74:-128.62,-22.31,-131.20:99 -chr1 4946898 rs6679312 A G 627.33 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.42;MQ0=0;OQ=2846.93;QD=36.04;SB=-1277.52 GT:AD:DP:GL:GQ 1/1:0,79:79:-288.30,-23.79,-0.02:99 -chr1 4947277 . A C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=64;Dels=0.00;HRun=1;HaplotypeScore=4.31;MQ=58.55;MQ0=0;OQ=58.76;QD=0.92;SB=83.26 GT:AD:DP:GL:GQ 0/1:39,25:47:-23.33,-14.17,-133.19:91.60 -chr1 4947969 rs716671 G T 362.39 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=0.74;MQ=59.37;MQ0=0;OQ=959.61;QD=14.54;SB=-385.78 GT:AD:DP:GL:GQ 0/1:32,34:63:-118.22,-18.98,-106.13:99 -chr1 4948484 rs7541612 T C 301.06 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.16;MQ0=0;OQ=2459.32;QD=34.16;SB=-1006.88 GT:AD:DP:GL:GQ 1/1:0,72:70:-249.54,-21.08,-0.02:99 -chr1 4948794 rs10737392 A C 185.94 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=2094.20;QD=29.50;SB=-992.36 GT:AD:DP:GL:GQ 1/1:0,71:69:-213.07,-20.80,-0.07:99 -chr1 4951092 rs12725971 A G 439.70 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=59.52;MQ0=0;OQ=1026.84;QD=13.16;SB=-423.90 GT:AD:DP:GL:GQ 0/1:43,35:78:-129.46,-23.49,-174.67:99 -chr1 4951570 rs6683624 C T 353.86 PASS AC=1;AF=0.50;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=2.63;MQ=59.06;MQ0=0;OQ=1065.83;QD=15.45;SB=-486.02 GT:AD:DP:GL:GQ 0/1:35,34:67:-130.05,-20.19,-121.88:99 -chr1 4953123 rs7418901 T C 620.55 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=2650.80;QD=31.56;SB=-1309.87 GT:AD:DP:GL:GQ 1/1:0,84:83:-268.73,-25.03,-0.06:99 -chr1 4955464 rs1459754 T C 197.18 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.56;MQ0=0;OQ=2710.14;QD=31.88;SB=-1351.75 GT:AD:DP:GL:GQ 1/1:0,85:84:-274.67,-25.33,-0.07:99 -chr1 4956424 rs12566071 T C 456.39 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.68;MQ0=0;OQ=1092.05;QD=27.30;SB=-412.16 GT:AD:DP:GL:GQ 1/1:0,40:36:-112.83,-10.86,-0.04:99 -chr1 4956725 rs12047194 C T 71.14 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.61;MQ=60.00;MQ0=0;OQ=1049.88;QD=16.93;SB=-178.21 GT:AD:DP:GL:GQ 0/1:29,33:61:-126.65,-18.37,-103.04:99 -chr1 4957085 . G A 6.71 PASS AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.62;MQ0=0;OQ=1318.00;QD=21.61;SB=-441.83 GT:AD:DP:GL:GQ 0/1:23,38:60:-153.16,-18.08,-75.01:99 -chr1 4957708 rs9701766 C T 287.33 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=59.24;MQ0=0;OQ=1921.26;QD=34.93;SB=-917.67 GT:AD:DP:GL:GQ 1/1:0,55:50:-195.73,-15.07,-0.02:99 -chr1 4957732 rs12134477 T G 328.37 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.88;MQ=59.35;MQ0=0;OQ=737.05;QD=11.52;SB=-389.76 GT:AD:DP:GL:GQ 0/1:34,30:62:-95.67,-18.68,-123.44:99 -chr1 4960336 rs9286972 T C 80.40 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=3;HaplotypeScore=0.87;MQ=59.38;MQ0=0;OQ=2352.51;QD=35.11;SB=-877.01 GT:AD:DP:GL:GQ 1/1:0,67:65:-238.86,-19.58,-0.02:99 -chr1 4960363 rs9286973 A G 217.69 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.91;MQ=58.74;MQ0=0;OQ=2328.65;QD=33.27;SB=-776.20 GT:AD:DP:GL:GQ 1/1:0,68:66:-236.47,-19.88,-0.02:99 -chr1 4960544 rs10158116 T C 435.93 PASS AC=2;AF=1.00;AN=2;DB;DP=28;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.17;MQ0=0;OQ=930.68;QD=33.24;SB=-423.17 GT:AD:DP:GL:GQ 1/1:0,28:27:-96.66,-8.13,-0.01:81.23 -chr1 4961077 rs1380469 C T 600.30 PASS AC=2;AF=1.00;AN=2;DB;DP=88;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3571.25;QD=40.58;SB=-1432.72 GT:AD:DP:GL:GQ 1/1:0,88:87:-356.13,-26.20,-0.02:99 -chr1 4961379 rs10158288 T C 503.56 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=2541.28;QD=30.99;SB=-793.00 GT:AD:DP:GL:GQ 1/1:0,82:80:-257.79,-24.13,-0.07:99 -chr1 4963153 rs10915307 G A 69.93 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=3;HaplotypeScore=1.45;MQ=59.07;MQ0=0;OQ=713.61;QD=14.27;SB=-252.29 GT:AD:DP:GL:GQ 0/1:25,25:45:-88.21,-13.57,-68.76:99 -chr1 4964065 rs10737393 G C 566.31 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1749.68;QD=40.69;SB=-797.25 GT:AD:DP:GL:GQ 1/1:0,43:42:-178.57,-12.66,-0.02:99 -chr1 4964532 rs28667637 T C 501.28 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1316.20;QD=16.05;SB=-509.69 GT:AD:DP:GL:GQ 0/1:33,49:82:-159.62,-24.71,-131.78:99 -chr1 4964976 rs12027167 C T 376.96 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.50;MQ0=0;OQ=1085.57;QD=14.47;SB=-544.31 GT:AD:DP:GL:GQ 0/1:42,33:75:-134.44,-22.60,-148.57:99 -chr1 4965052 rs28444318 G A 401.64 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.69;MQ0=0;OQ=1204.51;QD=18.82;SB=-457.96 GT:AD:DP:GL:GQ 0/1:28,36:62:-142.42,-18.68,-88.92:99 -chr1 4965449 rs10915308 C T 686.42 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.37;MQ0=0;OQ=2543.15;QD=38.53;SB=-937.28 GT:AD:DP:GL:GQ 1/1:0,66:64:-257.91,-19.28,-0.02:99 -chr1 4965556 rs12123277 C A 350.21 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=60.00;MQ0=0;OQ=722.36;QD=9.63;SB=-338.31 GT:AD:DP:GL:GQ 0/1:48,27:74:-97.81,-22.29,-174.39:99 -chr1 4965577 rs1380470 A G 738.02 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2392.77;QD=36.25;SB=-1196.76 GT:AD:DP:GL:GQ 1/1:0,66:66:-242.88,-19.88,-0.01:99 -chr1 4965710 rs10915309 G A 204.24 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.87;MQ=59.60;MQ0=0;OQ=2319.12;QD=39.98;SB=-986.30 GT:AD:DP:GL:GQ 1/1:0,58:58:-235.51,-17.47,-0.02:99 -chr1 4968070 rs10915310 A G 390.05 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.97;MQ=59.15;MQ0=0;OQ=1179.59;QD=14.39;SB=-449.76 GT:AD:DP:GL:GQ 0/1:38,44:81:-145.65,-24.41,-157.59:99 -chr1 4968105 rs10799151 A G 154.91 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=3.73;MQ=58.89;MQ0=0;OQ=1031.60;QD=12.74;SB=-406.80 GT:AD:DP:GL:GQ 0/1:40,41:78:-129.95,-23.51,-157.15:99 -chr1 4968710 . C G 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=41;Dels=0.00;HRun=0;HaplotypeScore=1.90;MQ=53.48;MQ0=0;OQ=64.03;QD=1.56;SB=-49.12 GT:AD:DP:GL:GQ 0/1:36,5:37:-20.84,-11.15,-143.24:96.86 -chr1 4968815 rs10915311 A C 217.55 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.03;MQ0=0;OQ=2004.53;QD=29.92;SB=-920.78 GT:AD:DP:GL:GQ 1/1:0,66:64:-204.09,-19.29,-0.06:99 -chr1 4969030 rs34951087 G T 218.41 PASS AC=1;AF=0.50;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=59.09;MQ0=0;OQ=572.86;QD=11.23;SB=-277.34 GT:AD:DP:GL:GQ 0/1:30,21:51:-75.93,-15.36,-106.99:99 -chr1 4970267 rs10915312 A G 154.58 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=2;HaplotypeScore=1.56;MQ=58.90;MQ0=0;OQ=985.64;QD=12.32;SB=-409.96 GT:AD:DP:GL:GQ 0/1:41,39:79:-125.65,-23.81,-166.76:99 -chr1 4970523 rs12045336 A G 132 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=3.57;MQ=59.62;MQ0=0;OQ=1080.57;QD=17.71;SB=-383.65 GT:AD:DP:GL:GQ 0/1:25,36:60:-129.41,-18.07,-101.07:99 -chr1 4971344 . A C 49.60 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=87;Dels=0.00;HRun=0;HaplotypeScore=45.73;MQ=55.38;MQ0=0;QD=0.57;SB=95.30 GT:AD:DP:GL:GQ 0/1:77,10:78:-31.75,-23.50,-240.44:82.44 -chr1 4972155 rs1870516 C T 119.50 PASS AC=1;AF=0.50;AN=2;DB;DP=95;Dels=0.00;HRun=2;HaplotypeScore=2.64;MQ=59.76;MQ0=0;OQ=1584.03;QD=16.67;SB=-599.54 GT:AD:DP:GL:GQ 0/1:49,46:91:-189.10,-27.42,-151.90:99 -chr1 4972838 rs1459756 T C 570.91 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.06;MQ0=0;OQ=978.37;QD=13.22;SB=-505.27 GT:AD:DP:GL:GQ 0/1:38,36:72:-122.81,-21.69,-153.16:99 -chr1 4972952 rs9286975 G A 397.79 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=2673.75;QD=39.91;SB=-1305.72 GT:AD:DP:GL:GQ 1/1:0,67:67:-270.98,-20.18,-0.02:99 -chr1 4973015 rs9662653 T A 589.24 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.20;MQ0=0;OQ=1272.49;QD=16.74;SB=-576.01 GT:AD:DP:GL:GQ 0/1:36,40:76:-153.42,-22.89,-135.61:99 -chr1 4973096 rs9701780 T C 360.62 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.34;MQ0=0;OQ=907.74;QD=12.97;SB=-427.52 GT:AD:DP:GL:GQ 0/1:38,32:70:-115.14,-21.08,-154.90:99 -chr1 4973099 rs1459757 A G 435.82 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.36;MQ0=0;OQ=906.72;QD=12.59;SB=-477.95 GT:AD:DP:GL:GQ 0/1:40,32:72:-115.64,-21.69,-161.61:99 -chr1 4973396 rs10753346 T C 325.42 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.65;MQ0=0;OQ=745.38;QD=11.29;SB=-293.22 GT:AD:DP:GL:GQ 0/1:39,27:65:-97.40,-19.58,-152.44:99 -chr1 4973518 rs10799152 A C 461.39 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.77;MQ0=0;OQ=1062.89;QD=13.29;SB=-461.68 GT:AD:DP:GL:GQ 0/1:43,37:80:-133.67,-24.09,-159.84:99 -chr1 4974497 rs35292186 A G 69.66 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=2;HaplotypeScore=0.47;MQ=59.78;MQ0=0;OQ=1148.97;QD=13.84;SB=-573.87 GT:AD:DP:GL:GQ 0/1:43,40:81:-142.58,-24.40,-174.12:99 -chr1 4976182 rs10915314 G C 291.75 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.96;MQ=60.00;MQ0=0;OQ=1306.22;QD=17.65;SB=-415.30 GT:AD:DP:GL:GQ 0/1:38,36:73:-155.90,-22.00,-163.97:99 -chr1 4977412 rs12047764 T C 324.11 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.73;MQ=59.63;MQ0=0;OQ=712.65;QD=11.49;SB=-368.84 GT:AD:DP:GL:GQ 0/1:33,29:62:-93.24,-18.69,-135.85:99 -chr1 4978209 rs10915315 A G 314.02 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.17;MQ0=0;OQ=593.55;QD=8.73;SB=-263.22 GT:AD:DP:GL:GQ 0/1:42,26:67:-82.83,-20.19,-168.85:99 -chr1 4978799 rs10915316 T C 253.84 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=3.42;MQ=59.03;MQ0=0;OQ=793.88;QD=11.03;SB=-421.21 GT:AD:DP:GL:GQ 0/1:40,31:69:-103.46,-20.78,-159.70:99 -chr1 4980236 . G A 100.41 PASS AC=1;AF=0.50;AN=2;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.79;MQ0=0;OQ=1786.33;QD=21.02;SB=-886.64 GT:AD:DP:GL:GQ 0/1:34,51:83:-206.92,-25.00,-119.27:99 -chr1 4980926 rs10915317 T C 438.47 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.93;MQ=59.66;MQ0=0;OQ=838.53;QD=12.33;SB=-314.09 GT:AD:DP:GL:GQ 0/1:34,34:67:-107.33,-20.19,-138.42:99 -chr1 4981033 rs898337 G A 348.85 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.70;MQ0=0;OQ=1302.29;QD=16.91;SB=-502.50 GT:AD:DP:GL:GQ 0/1:36,41:75:-156.11,-22.60,-126.45:99 -chr1 4981597 rs7516703 C T 165.71 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=1.76;MQ=60.19;MQ0=0;OQ=561.42;QD=9.85;SB=-184.86 GT:AD:DP:GL:GQ 0/1:36,21:54:-75.71,-16.28,-112.37:99 -chr1 4982000 rs10799153 A G 596.01 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.94;MQ0=0;OQ=1157.46;QD=16.30;SB=-464.59 GT:AD:DP:GL:GQ 0/1:32,39:71:-140.42,-21.40,-120.74:99 -chr1 4983908 . G A 17.79 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=67;Dels=0.00;HRun=16;HaplotypeScore=7.18;MQ=55.71;MQ0=0;QD=0.27;SB=86.25 GT:AD:DP:GL:GQ 0/1:51,16:49:-19.83,-14.77,-145.36:50.55 -chr1 4985809 rs9439574 C T 11.86 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=4;HaplotypeScore=0.16;MQ=58.95;MQ0=0;OQ=1576.28;QD=19.70;SB=-625.03 GT:AD:DP:GL:GQ 0/1:34,46:79:-184.71,-23.79,-124.63:99 -chr1 4985815 rs9439575 A G 487 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.98;MQ0=0;OQ=1410.52;QD=17.20;SB=-545.94 GT:AD:DP:GL:GQ 0/1:36,46:82:-169.04,-24.70,-144.72:99 -chr1 4986567 rs10218468 A C 245.59 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.31;MQ0=0;OQ=789.54;QD=11.78;SB=-394.67 GT:AD:DP:GL:GQ 0/1:34,33:66:-102.12,-19.88,-128.07:99 -chr1 4987124 rs10442625 A G 373.16 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.11;MQ=59.63;MQ0=0;OQ=720.29;QD=11.43;SB=-219.26 GT:AD:DP:GL:GQ 0/1:37,26:62:-93.99,-18.68,-145.68:99 -chr1 4988477 rs2169089 A G 373.87 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=1.63;MQ=59.69;MQ0=0;OQ=1114.19;QD=14.86;SB=-356.97 GT:AD:DP:GL:GQ 0/1:29,45:72:-136.41,-21.71,-118.67:99 -chr1 4988875 rs716112 A G 453.40 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=60.00;MQ0=0;OQ=842.62;QD=12.58;SB=-426.87 GT:AD:DP:GL:GQ 0/1:33,34:66:-107.44,-19.90,-129.75:99 -chr1 4990575 rs1459764 C T 573.83 PASS AC=1;AF=0.50;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.71;MQ0=0;OQ=1234.93;QD=15.63;SB=-612.07 GT:AD:DP:GL:GQ 0/1:42,37:78:-150.28,-23.50,-132.81:99 -chr1 4990857 rs9439507 A G 285 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.35;MQ0=0;OQ=2461.09;QD=34.66;SB=-1130.69 GT:AD:DP:GL:GQ 1/1:0,71:71:-249.72,-21.39,-0.03:99 -chr1 4991092 rs10442626 G C 211.49 PASS AC=1;AF=0.50;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=59.60;MQ0=0;OQ=718.97;QD=12.61;SB=-159.21 GT:AD:DP:GL:GQ 0/1:31,26:54:-91.46,-16.28,-132.88:99 -chr1 4991687 rs4949164 A G 470.49 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=60.00;MQ0=0;OQ=1103.70;QD=13.80;SB=-401.93 GT:AD:DP:GL:GQ 0/1:38,42:79:-137.46,-23.80,-155.83:99 -chr1 4993546 rs7533014 T C 526.25 PASS AC=1;AF=0.50;AN=2;DB;DP=91;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1036.32;QD=11.39;SB=-442.91 GT:AD:DP:GL:GQ 0/1:49,42:90:-134.04,-27.12,-197.59:99 -chr1 4993852 rs11580542 A G 170.64 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.73;MQ0=0;OQ=650.23;QD=9.56;SB=-317.81 GT:AD:DP:GL:GQ 0/1:43,25:66:-88.19,-19.88,-168.41:99 -chr1 4994065 . C T 20.53 PASS AC=1;AF=0.50;AN=2;DP=71;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1330.95;QD=18.75;SB=-592.09 GT:AD:DP:GL:GQ 0/1:33,38:71:-157.76,-21.38,-120.30:99 -chr1 4994295 rs6693990 G A 335.33 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.95;MQ=57.88;MQ0=0;OQ=1019.69;QD=16.19;SB=-465.42 GT:AD:DP:GL:GQ 0/1:31,32:60:-123.32,-18.07,-111.15:99 -chr1 4994563 rs1459763 A G 13.43 PASS AC=1;AF=0.50;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=5.21;MQ=58.04;MQ0=0;OQ=377.66;QD=9.21;SB=-181.57 GT:AD:DP:GL:GQ 0/1:25,16:38:-52.50,-11.45,-93.25:99 -chr1 4995722 rs1459762 C T 513.24 PASS AC=1;AF=0.50;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.65;MQ0=0;OQ=1249.58;QD=19.22;SB=-511.06 GT:AD:DP:GL:GQ 0/1:27,38:64:-147.53,-19.29,-84.78:99 -chr1 4996533 . T G 102.56 PASS AC=1;AF=0.50;AN=2;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.96;MQ=59.08;MQ0=0;OQ=597.86;QD=9.80;SB=-320.69 GT:AD:DP:GL:GQ 0/1:35,26:61:-81.45,-18.38,-132.05:99 -chr1 4999697 . C G 5.71 PASS AC=1;AF=0.50;AN=2;DP=88;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=59.53;MQ0=0;OQ=2076.06;QD=23.59;SB=-758.01 GT:AD:DP:GL:GQ 0/1:34,54:87:-237.12,-26.23,-133.95:99 -chr1 4999785 . A G 153.89 PASS AC=1;AF=0.50;AN=2;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.27;MQ=59.42;MQ0=0;OQ=950.41;QD=13.20;SB=-485.20 GT:AD:DP:GL:GQ 0/1:39,33:71:-119.71,-21.39,-153.18:99 -chr1 5000124 rs35565495 A G 217.11 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=2.82;MQ=57.68;MQ0=0;OQ=905.68;QD=12.41;SB=-443.62 GT:AD:DP:GL:GQ 0/1:40,33:73:-115.85,-22.00,-156.82:99 -chr1 5000551 rs1459761 A G 316.71 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=2.15;MQ=59.68;MQ0=0;OQ=1082.64;QD=18.35;SB=-522.18 GT:AD:DP:GL:GQ 0/1:24,35:59:-129.32,-17.77,-97.53:99 -chr1 5002004 rs12403444 A G 454.86 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.14;MQ=59.69;MQ0=0;OQ=1008.17;QD=13.62;SB=-385.25 GT:AD:DP:GL:GQ 0/1:38,36:71:-125.49,-21.39,-141.83:99 -chr1 5002384 rs12403749 A G 334.10 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=60.18;MQ0=0;OQ=762.42;QD=12.92;SB=-306.27 GT:AD:DP:GL:GQ 0/1:32,27:59:-97.30,-17.77,-132.93:99 -chr1 5002965 rs55998096 C T 265.85 PASS AC=1;AF=0.50;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1237.12;QD=16.95;SB=-623.66 GT:AD:DP:GL:GQ 0/1:35,38:72:-148.68,-21.69,-128.69:99 -chr1 5003908 rs1459759 T G 287.81 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=59.68;MQ0=0;OQ=1018.83;QD=14.15;SB=-495.74 GT:AD:DP:GL:GQ 0/1:34,38:70:-126.25,-21.08,-125.30:99 -chr1 5004548 . C T 0.18 PASS AC=1;AF=0.50;AN=2;DP=102;Dels=0.00;HRun=4;HaplotypeScore=0.97;MQ=55.65;MQ0=0;OQ=1952.83;QD=19.15;SB=-933.54 GT:AD:DP:GL:GQ 0/1:44,58:102:-229.30,-30.73,-156.88:99 -chr1 5004874 rs55883351 G A 211.60 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=41.17;MQ0=0;OQ=1434.24;QD=17.49;SB=-707.75 GT:AD:DP:GL:GQ 0/1:39,43:79:-170.52,-23.81,-118.83:99 -chr1 5005796 . T G 22.56 PASS AC=1;AF=0.50;AN=2;DP=70;Dels=0.00;HRun=2;HaplotypeScore=0.97;MQ=52.68;MQ0=0;OQ=1101.12;QD=15.73;SB=-417.74 GT:AD:DP:GL:GQ 0/1:29,41:66:-133.27,-19.88,-106.95:99 -chr1 5005889 rs10737394 A G 342.71 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=55.43;MQ0=0;OQ=434.38;QD=9.05;SB=-233.28 GT:AD:DP:GL:GQ 0/1:27,21:46:-60.59,-13.87,-106.69:99 -chr1 5006532 rs10799156 G C 195.83 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=38.14;MQ0=9;OQ=508.53;QD=10.38;SB=-226.35 GT:AD:DP:GL:GQ 0/1:19,30:34:-64.39,-10.25,-81.21:99 -chr1 5007005 rs6603829 T C 0.07 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=16.12;MQ=27.87;MQ0=17;OQ=171.08;QD=2.19;SB=-108.70 GT:AD:DP:GL:GQ 0/1:51,27:35:-30.94,-10.55,-97.26:99 -chr1 5007006 rs6603830 G A 0.04 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=18.32;MQ=27.85;MQ0=18;OQ=165.82;QD=2.13;SB=-81.55 GT:AD:DP:GL:GQ 0/1:59,19:36:-30.72,-10.85,-97.29:99 -chr1 5007287 . C G 0.46 PASS AC=1;AF=0.50;AN=2;DP=52;Dels=0.00;HRun=1;HaplotypeScore=8.19;MQ=48.27;MQ0=4;OQ=754.87;QD=14.52;SB=-244.08 GT:AD:DP:GL:GQ 0/1:26,25:44:-92.04,-13.27,-89.64:99 -chr1 5007421 . A G 0.01 FDRtranche2.00to10.00 AC=1;AF=0.50;AN=2;DP=98;Dels=0.00;HRun=1;HaplotypeScore=5.43;MQ=22.24;MQ0=26;OQ=110.20;QD=1.12;SB=7.49 GT:AD:DP:GL:GQ 0/1:85,12:42:-26.95,-12.65,-140.65:99 -chr1 5007424 . G C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=2;HaplotypeScore=3.53;MQ=23.00;MQ0=24;OQ=143.47;QD=1.54;SB=3.27 GT:AD:DP:GL:GQ 0/1:81,12:42:-30.29,-12.66,-152.47:99 -chr1 5011084 . C G 46.29 PASS AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=45.50;MQ0=2;OQ=1885.25;QD=20.27;SB=-717.97 GT:AD:DP:GL:GQ 0/1:41,52:88:-218.32,-26.51,-163.98:99 -chr1 5011731 . C T 18.24 PASS AC=1;AF=0.50;AN=2;DP=87;Dels=0.00;HRun=2;HaplotypeScore=0.79;MQ=54.65;MQ0=1;OQ=1577.37;QD=18.13;SB=-623.62 GT:AD:DP:GL:GQ 0/1:41,46:86:-186.92,-25.90,-147.64:99 -chr1 5012084 rs10915327 C T 347.57 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=48.94;MQ0=2;OQ=1240.99;QD=17.24;SB=-606.09 GT:AD:DP:GL:GQ 0/1:32,40:68:-147.88,-20.49,-101.20:99 -chr1 5012508 . G A 165.62 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=0;HaplotypeScore=0.74;MQ=34.81;MQ0=2;OQ=954.73;QD=16.75;SB=-470.48 GT:AD:DP:GL:GQ 0/1:23,33:48:-113.23,-14.48,-57.23:99 -chr1 5014453 . C A 65.76 PASS AC=1;AF=0.50;AN=2;DP=89;Dels=0.00;HRun=1;HaplotypeScore=0.92;MQ=59.79;MQ0=0;OQ=1613.72;QD=18.13;SB=-734.55 GT:AD:DP:GL:GQ 0/1:38,51:88:-191.16,-26.50,-131.97:99 -chr1 5016018 . T G 165.96 PASS AC=1;AF=0.50;AN=2;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=60.00;MQ0=0;OQ=1295.09;QD=17.50;SB=-624.73 GT:AD:DP:GL:GQ 0/1:31,43:74:-155.08,-22.29,-116.52:99 -chr1 5018516 rs4262591 A T 76.12 PASS AC=1;AF=0.50;AN=2;DB;DP=89;Dels=0.00;HRun=2;HaplotypeScore=0.94;MQ=59.27;MQ0=0;OQ=1137.62;QD=12.78;SB=-520.24 GT:AD:DP:GL:GQ 0/1:50,39:87:-143.25,-26.20,-190.22:99 -chr1 5020923 rs970119 A C 493.82 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=718.78;QD=10.27;SB=-241.77 GT:AD:DP:GL:GQ 0/1:40,30:69:-95.95,-20.78,-149.31:99 -chr1 5023267 . C G 91.77 PASS AC=1;AF=0.50;AN=2;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.92;MQ0=0;OQ=800.92;QD=19.07;SB=-315.01 GT:AD:DP:GL:GQ 0/1:20,22:41:-95.73,-12.36,-81.61:99 -chr1 5024719 rs1563792 G A 196.62 PASS AC=1;AF=0.50;AN=2;DB;DP=82;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=59.54;MQ0=0;OQ=1348.55;QD=16.45;SB=-599.05 GT:AD:DP:GL:GQ 0/1:42,40:80:-162.25,-24.11,-132.60:99 -chr1 5027451 rs56184292 G T 6.36 PASS AC=1;AF=0.50;AN=2;DB;DP=94;Dels=0.00;HRun=4;HaplotypeScore=0.58;MQ=60.00;MQ0=0;OQ=1415.10;QD=15.05;SB=-721.57 GT:AD:DP:GL:GQ 0/1:44,49:93:-172.81,-28.02,-154.91:99 -chr1 5029434 rs2061494 T A 49.68 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=2;HaplotypeScore=1.72;MQ=59.72;MQ0=0;OQ=1567.79;QD=19.36;SB=-635.43 GT:AD:DP:GL:GQ 0/1:33,47:79:-183.86,-23.79,-122.93:99 -chr1 5029438 rs2061493 T A 66.27 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=2;HaplotypeScore=1.72;MQ=59.72;MQ0=0;OQ=1477.11;QD=18.24;SB=-663.80 GT:AD:DP:GL:GQ 0/1:33,48:80:-175.09,-24.10,-128.48:99 -chr1 5029774 rs55724572 C A 223.76 PASS AC=1;AF=0.50;AN=2;DB;DP=101;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.17;MQ0=0;OQ=1394.44;QD=13.81;SB=-671.07 GT:AD:DP:GL:GQ 0/1:55,46:101:-173.14,-30.41,-200.20:99 -chr1 5029802 rs56297253 G A 420.62 PASS AC=1;AF=0.50;AN=2;DB;DP=102;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.18;MQ0=0;OQ=1452.74;QD=14.24;SB=-632.72 GT:AD:DP:GL:GQ 0/1:58,44:100:-178.69,-30.14,-182.65:99 -chr1 5030141 rs1459758 C G 545.16 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=2835.80;QD=42.33;SB=-1264.90 GT:AD:DP:GL:GQ 1/1:0,67:65:-287.18,-19.58,-0.01:99 -chr1 5032542 rs977665 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=92;Dels=0.00;HRun=14;HaplotypeScore=4.90;MQ=58.74;MQ0=0;OQ=53.47;QD=0.58;SB=128.44 GT:AD:DP:GL:GQ 0/1:77,15:69:-29.43,-20.80,-218.90:86.30 -chr1 5036504 rs922123 T C 526.95 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.12;MQ0=0;OQ=805.20;QD=10.88;SB=-361.22 GT:AD:DP:GL:GQ 0/1:44,30:74:-106.10,-22.29,-176.34:99 -chr1 5036703 rs55875722 T A 259.30 PASS AC=1;AF=0.50;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.65;MQ0=0;OQ=1241.65;QD=18.81;SB=-625.13 GT:AD:DP:GL:GQ 0/1:28,38:64:-146.72,-19.28,-96.42:99 -chr1 5036704 rs922124 T A 61.83 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=59.67;MQ0=0;OQ=2561.19;QD=37.12;SB=-1099.66 GT:AD:DP:GL:GQ 1/1:0,69:68:-259.72,-20.48,-0.02:99 -chr1 5036974 rs56077964 G A 617 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=2268.61;QD=38.45;SB=-1080.42 GT:AD:DP:GL:GQ 1/1:0,59:56:-230.46,-16.87,-0.01:99 -chr1 5039060 rs56186517 C T 567.90 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.53;MQ0=0;OQ=3555.73;QD=39.95;SB=-1607.16 GT:AD:DP:GL:GQ 1/1:0,89:87:-354.57,-26.20,-0.02:99 -chr1 5039732 rs56347558 T C 203.59 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.44;MQ=59.06;MQ0=0;OQ=2530.73;QD=34.20;SB=-928.36 GT:AD:DP:GL:GQ 1/1:0,73:71:-256.68,-21.39,-0.02:99 -chr1 5040152 rs3128686 G T 232.26 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=59.70;MQ0=0;OQ=2534.37;QD=32.49;SB=-1255.28 GT:AD:DP:GL:GQ 1/1:1,77:71:-257.05,-21.39,-0.03:99 -chr1 5040933 rs12045197 A T 91.33 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=2.81;MQ=44.79;MQ0=0;OQ=1582.06;QD=35.96;SB=-689.38 GT:AD:DP:GL:GQ 1/1:0,44:44:-161.81,-13.26,-0.02:99 -chr1 5041153 rs3128687 G T 199.02 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=55.94;MQ0=0;OQ=2861.17;QD=36.22;SB=-1432.06 GT:AD:DP:GL:GQ 1/1:0,79:77:-289.72,-23.19,-0.02:99 -chr1 5041314 rs3128688 A T 418.75 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=57.72;MQ0=0;OQ=2724.95;QD=37.85;SB=-1190.46 GT:AD:DP:GL:GQ 1/1:0,72:72:-276.10,-21.69,-0.02:99 -chr1 5041500 rs3128689 C A 313.60 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.24;MQ=59.77;MQ0=0;OQ=2974.21;QD=36.27;SB=-1175.38 GT:AD:DP:GL:GQ 1/1:0,82:81:-301.03,-24.39,-0.02:99 -chr1 5042266 rs10915339 G A 611.24 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.20;MQ0=0;OQ=2730.95;QD=39.01;SB=-1105.02 GT:AD:DP:GL:GQ 1/1:0,70:70:-276.70,-21.09,-0.02:99 -chr1 5042286 rs10915340 T C 619.37 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.86;MQ0=0;OQ=2323.00;QD=35.20;SB=-939.39 GT:AD:DP:GL:GQ 1/1:0,65:65:-235.90,-19.58,-0.02:99 -chr1 5042412 rs10915341 T G 227.06 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=59.39;MQ0=0;OQ=2175.06;QD=35.66;SB=-984.12 GT:AD:DP:GL:GQ 1/1:0,61:61:-221.11,-18.37,-0.01:99 -chr1 5042489 rs12029437 C G 85.77 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=2.70;MQ=59.16;MQ0=0;OQ=2913.26;QD=40.46;SB=-1456.73 GT:AD:DP:GL:GQ 1/1:0,72:69:-294.94,-20.80,-0.03:99 -chr1 5042644 rs12047111 A G 505.22 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.46;MQ0=0;OQ=1237.53;QD=28.78;SB=-430.81 GT:AD:DP:GL:GQ 1/1:0,43:41:-127.38,-12.37,-0.05:99 -chr1 5042678 rs2334263 T C 624.61 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.35;MQ0=0;OQ=1911.69;QD=29.87;SB=-888.47 GT:AD:DP:GL:GQ 1/1:0,64:60:-194.81,-18.10,-0.06:99 -chr1 5043104 rs10799159 C A 257.58 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=59.14;MQ0=0;OQ=3046.41;QD=35.84;SB=-1505.91 GT:AD:DP:GL:GQ 1/1:0,85:84:-308.25,-25.30,-0.02:99 -chr1 5043177 rs10799160 G A 205.89 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=1.49;MQ=59.29;MQ0=0;OQ=2756.78;QD=37.25;SB=-1155.91 GT:AD:DP:GL:GQ 1/1:1,72:71:-282.75,-21.39,-3.49:99 -chr1 5043218 rs10799161 A C 127.41 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.10;MQ0=0;OQ=2285.87;QD=29.69;SB=-810.83 GT:AD:DP:GL:GQ 1/1:0,77:71:-232.22,-21.39,-0.05:99 -chr1 5048318 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=69;Dels=0.00;HRun=4;HaplotypeScore=11.35;MQ=48.17;MQ0=0;OQ=57.54;QD=0.83;SB=77.27 GT:AD:DP:GL:GQ 0/1:47,22:47:-23.20,-14.17,-150.00:90.38 -chr1 5048545 rs10915343 T C 699.40 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.89;MQ0=0;OQ=1690.53;QD=34.50;SB=-831.35 GT:AD:DP:GL:GQ 1/1:0,49:48:-172.65,-14.46,-0.01:99 -chr1 5050626 rs3101213 A G 203.57 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=59.71;MQ0=0;OQ=2864.75;QD=36.26;SB=-1335.60 GT:AD:DP:GL:GQ 1/1:0,79:79:-290.08,-23.79,-0.02:99 -chr1 5051336 rs2199215 T C 701.57 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.44;MQ0=0;OQ=2974.37;QD=35.84;SB=-1419.92 GT:AD:DP:GL:GQ 1/1:0,83:83:-301.05,-25.00,-0.02:99 -chr1 5052019 rs12121092 G T 639.83 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=2775.75;QD=36.52;SB=-1128.45 GT:AD:DP:GL:GQ 1/1:0,76:76:-281.18,-22.89,-0.02:99 -chr1 5057740 rs55852005 G A 37.87 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=3;HaplotypeScore=1.46;MQ=59.22;MQ0=0;OQ=1090.29;QD=18.48;SB=-513.03 GT:AD:DP:GL:GQ 0/1:26,33:57:-129.48,-17.17,-87.67:99 -chr1 5058085 rs4949171 C T 168.96 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=1.62;MQ=59.33;MQ0=0;OQ=2116.23;QD=37.79;SB=-957.98 GT:AD:DP:GL:GQ 1/1:0,56:55:-215.23,-16.58,-0.02:99 -chr1 5058717 rs9803863 G A 206.60 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=59.13;MQ0=0;OQ=2766.44;QD=39.52;SB=-1272.71 GT:AD:DP:GL:GQ 1/1:0,69:70:-283.01,-23.72,-2.78:99 -chr1 5059210 rs982156 T C 60.22 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=0.49;MQ=59.24;MQ0=0;OQ=1823.01;QD=33.15;SB=-568.39 GT:AD:DP:GL:GQ 1/1:0,55:54:-185.91,-16.27,-0.03:99 -chr1 5060220 rs992597 C T 157.27 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.89;MQ=59.01;MQ0=0;OQ=2915.53;QD=38.36;SB=-981.32 GT:AD:DP:GL:GQ 1/1:0,76:74:-295.16,-22.30,-0.02:99 -chr1 5060522 rs2242157 G T 298.92 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=59.45;MQ0=0;OQ=2405.81;QD=35.38;SB=-942.03 GT:AD:DP:GL:GQ 1/1:0,68:68:-244.19,-20.49,-0.03:99 -chr1 5060591 rs1459766 T G 395.54 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.24;MQ0=0;OQ=2600.59;QD=35.14;SB=-1143.14 GT:AD:DP:GL:GQ 1/1:0,74:73:-263.67,-21.99,-0.02:99 -chr1 5061734 rs9439532 C T 112.42 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=2.81;MQ=59.34;MQ0=0;OQ=2118.20;QD=37.16;SB=-1042.39 GT:AD:DP:GL:GQ 1/1:0,57:54:-215.42,-16.27,-0.02:99 -chr1 5062366 rs6683881 C T 35.99 PASS AC=2;AF=1.00;AN=2;DB;DP=91;Dels=0.00;HRun=1;HaplotypeScore=1.70;MQ=59.80;MQ0=0;OQ=3619.28;QD=39.77;SB=-1734.02 GT:AD:DP:GL:GQ 1/1:0,91:89:-360.93,-26.81,-0.02:99 -chr1 5062541 rs4949170 A G 156.11 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=0;HaplotypeScore=1.86;MQ=59.71;MQ0=0;OQ=2632.93;QD=33.33;SB=-1332.58 GT:AD:DP:GL:GQ 1/1:0,79:75:-266.90,-22.59,-0.03:99 -chr1 5062567 rs4949169 A T 172.52 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.83;MQ=59.68;MQ0=0;OQ=2759.54;QD=37.80;SB=-995.13 GT:AD:DP:GL:GQ 1/1:0,73:72:-279.55,-21.68,-0.01:99 -chr1 5063485 rs9439576 C G 98.90 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=59.17;MQ0=0;OQ=3111.26;QD=39.89;SB=-1145.60 GT:AD:DP:GL:GQ 1/1:0,77:71:-314.73,-21.39,-0.02:99 -chr1 5063671 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=60;Dels=0.00;HRun=2;HaplotypeScore=26.54;MQ=57.06;MQ0=0;OQ=128.17;QD=2.14;SB=77.28 GT:AD:DP:GL:GQ 0/1:38,22:39:-27.89,-11.79,-122.93:99 -chr1 5064284 rs2169090 T C 707.36 PASS AC=2;AF=1.00;AN=2;DB;DP=89;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.41;MQ0=0;OQ=3152.45;QD=35.42;SB=-1370.23 GT:AD:DP:GL:GQ 1/1:0,89:88:-318.85,-26.50,-0.02:99 -chr1 5066340 rs57000660 A G 484.39 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=766.60;QD=12.99;SB=-402.18 GT:AD:DP:GL:GQ 0/1:32,27:59:-97.71,-17.77,-131.87:99 -chr1 5066393 rs1037809 C T 706.58 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3074.28;QD=39.41;SB=-1449.38 GT:AD:DP:GL:GQ 1/1:0,78:78:-311.04,-23.50,-0.02:99 -chr1 5068397 rs6659363 G C 337.44 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.22;MQ0=0;OQ=768.71;QD=14.24;SB=-229.04 GT:AD:DP:GL:GQ 0/1:31,23:53:-96.12,-15.97,-137.34:99 -chr1 5068500 rs12124337 A C 365.74 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=60.00;MQ0=0;OQ=1243.29;QD=15.94;SB=-471.71 GT:AD:DP:GL:GQ 0/1:35,43:77:-150.81,-23.19,-127.77:99 -chr1 5068523 rs10733013 C T 471.58 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=1107.71;QD=14.39;SB=-422.79 GT:AD:DP:GL:GQ 0/1:43,34:75:-136.66,-22.60,-133.09:99 -chr1 5069554 rs2722789 G A 592.26 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1009.56;QD=14.02;SB=-503.00 GT:AD:DP:GL:GQ 0/1:41,31:72:-125.95,-21.71,-131.55:99 -chr1 5070551 rs4949160 A T 476.97 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.42;MQ0=0;OQ=1068.05;QD=14.83;SB=-488.53 GT:AD:DP:GL:GQ 0/1:37,35:71:-131.47,-21.38,-142.74:99 -chr1 5071819 . G A 258.71 PASS AC=1;AF=0.50;AN=2;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.44;MQ0=0;OQ=1213.24;QD=16.18;SB=-353.81 GT:AD:DP:GL:GQ 0/1:39,36:75:-147.20,-22.59,-142.20:99 -chr1 5071854 . T A 81.17 PASS AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.95;MQ=60.00;MQ0=0;OQ=1149.23;QD=14.19;SB=-304.96 GT:AD:DP:GL:GQ 0/1:43,38:80:-142.31,-24.10,-164.66:99 -chr1 5072229 . G A 304.80 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=81;Dels=0.01;HRun=0;HaplotypeScore=64.90;MQ=44.02;MQ0=0;QD=3.76;SB=86.27 GT:AD:DP:GL:GQ 0/1:66,14:79:-57.26,-23.50,-230.57:99 -chr1 5072230 . C G 37.37 DPFilter;LowQual;SnpCluster AC=1;AF=0.50;AN=2;DP=83;Dels=0.01;HRun=2;HaplotypeScore=55.89;MQ=43.72;MQ0=0;QD=0.45;SB=80.30 GT:AD:DP:GL:GQ 0/1:67,6:72:-38.59,-31.57,-277.78:70.20 -chr1 5072236 . A G 214.30 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=80;Dels=0.08;HRun=2;HaplotypeScore=77.80;MQ=44.49;MQ0=0;QD=2.68;SB=83.29 GT:AD:DP:GL:GQ 0/1:56,12:72:-66.82,-42.10,-235.08:99 -chr1 5072261 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=81;Dels=0.05;HRun=0;HaplotypeScore=73.45;MQ=43.15;MQ0=0;OQ=399.38;QD=4.93;SB=83.29 GT:AD:DP:GL:GQ 0/1:51,25:67:-62.51,-19.29,-172.53:99 -chr1 5072278 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=86;Dels=0.01;HRun=1;HaplotypeScore=43.28;MQ=42.83;MQ0=0;OQ=260.49;QD=3.03;SB=63.28 GT:AD:DP:GL:GQ 0/1:59,19:75:-74.72,-45.39,-204.92:99 -chr1 5072305 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=82;Dels=0.04;HRun=0;HaplotypeScore=77.14;MQ=40.79;MQ0=0;OQ=744.26;QD=9.08;SB=-270.19 GT:AD:DP:GL:GQ 0/1:44,35:70:-97.91,-20.20,-140.23:99 -chr1 5072314 . C A 26.92 LowQual AC=1;AF=0.50;AN=2;DP=80;Dels=0.00;HRun=1;HaplotypeScore=53.92;MQ=40.19;MQ0=0;QD=0.34;SB=-28.60 GT:AD:DP:GL:GQ 0/1:60,11:56:-29.71,-23.73,-169.35:59.74 -chr1 5072329 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=71;Dels=0.01;HRun=0;HaplotypeScore=74.94;MQ=38.44;MQ0=0;OQ=775.14;QD=10.92;SB=-292.22 GT:AD:DP:GL:GQ 0/1:41,28:64:-99.78,-18.98,-129.83:99 -chr1 5072338 . C G 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=63;Dels=0.02;HRun=2;HaplotypeScore=51.40;MQ=37.08;MQ0=0;OQ=162.47;QD=2.58;SB=101.36 GT:AD:DP:GL:GQ 0/1:48,8:57:-50.13,-30.60,-201.42:99 -chr1 5072354 . A G 70.72 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=68;Dels=0.01;HRun=3;HaplotypeScore=80.87;MQ=34.07;MQ0=1;QD=1.04;SB=50.19 GT:AD:DP:GL:GQ 0/1:55,12:60:-28.14,-17.78,-195.72:99 -chr1 5072357 . A G 633.36 SnpCluster AC=1;AF=0.50;AN=2;DP=67;Dels=0.01;HRun=1;HaplotypeScore=71.93;MQ=33.53;MQ0=1;QD=9.45;SB=-235.45 GT:AD:DP:GL:GQ 0/1:28,25:61:-115.70,-49.08,-135.16:99 -chr1 5072359 . A C 486.53 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=69;Dels=0.03;HRun=0;HaplotypeScore=52.12;MQ=33.41;MQ0=1;QD=7.05;SB=62.18 GT:AD:DP:GL:GQ 0/1:42,24:63:-73.40,-21.46,-136.62:99 -chr1 5072383 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=101;Dels=0.00;HRun=1;HaplotypeScore=82.78;MQ=35.86;MQ0=1;OQ=50.85;QD=0.50;SB=43.30 GT:AD:DP:GL:GQ 0/1:88,10:72:-37.48,-29.11,-217.86:83.68 -chr1 5072395 . C A 570.19 SnpCluster AC=1;AF=0.50;AN=2;DP=99;Dels=0.02;HRun=1;HaplotypeScore=88.86;MQ=38.13;MQ0=1;QD=5.76;SB=-12.89 GT:AD:DP:GL:GQ 0/1:64,28:75:-96.04,-35.74,-177.41:99 -chr1 5072402 . A G 56.63 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=98;Dels=0.00;HRun=3;HaplotypeScore=106.83;MQ=38.72;MQ0=1;QD=0.58;SB=77.28 GT:AD:DP:GL:GQ 0/1:88,10:70:-30.04,-21.10,-237.13:89.47 -chr1 5072405 . G T 211.27 DPFilter;SnpCluster AC=1;AF=0.50;AN=2;DP=95;Dels=0.03;HRun=0;HaplotypeScore=106.15;MQ=39.10;MQ0=1;QD=2.22;SB=86.26 GT:AD:DP:GL:GQ 0/1:74,17:80:-48.52,-24.11,-223.42:99 -chr1 5072419 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=93;Dels=0.00;HRun=1;HaplotypeScore=52.76;MQ=39.26;MQ0=1;OQ=413.09;QD=4.44;SB=8.43 GT:AD:DP:GL:GQ 0/1:71,20:77:-71.28,-26.69,-194.57:99 -chr1 5072442 . A G 31.37 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=65;Dels=0.00;HRun=2;HaplotypeScore=72.31;MQ=41.30;MQ0=0;QD=0.48;SB=47.17 GT:AD:DP:GL:GQ 0/1:57,8:62:-25.11,-18.69,-212.28:64.20 -chr1 5073664 rs2611423 C A 218.42 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=2432.37;QD=35.25;SB=-1208.34 GT:AD:DP:GL:GQ 1/1:0,69:67:-246.84,-20.18,-0.02:99 -chr1 5073938 rs2611424 A G 134.32 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=2;HaplotypeScore=0.73;MQ=59.25;MQ0=0;OQ=2912.91;QD=35.96;SB=-1287.55 GT:AD:DP:GL:GQ 1/1:0,81:80:-294.90,-24.09,-0.02:99 -chr1 5074030 rs2611425 C T 598.88 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=57.51;MQ0=0;OQ=2372.22;QD=38.89;SB=-1023.68 GT:AD:DP:GL:GQ 1/1:0,61:60:-240.82,-18.07,-0.01:99 -chr1 5074510 rs9439534 C T 637.40 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=43.93;MQ0=0;OQ=2321.21;QD=36.27;SB=-1159.05 GT:AD:DP:GL:GQ 1/1:0,64:59:-235.72,-17.77,-0.02:99 -chr1 5074638 rs57003830 G C 372.48 PASS AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.83;MQ=43.54;MQ0=4;OQ=1370.10;QD=15.75;SB=-494.22 GT:AD:DP:GL:GQ 0/1:45,42:79:-164.10,-23.81,-179.75:99 -chr1 5075049 rs9439577 C T 95.46 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=2.23;MQ=38.28;MQ0=7;OQ=1971.59;QD=31.30;SB=-484.14 GT:AD:DP:GL:GQ 1/1:0,62:51:-200.77,-15.37,-0.03:99 -chr1 5075121 rs9439535 A G 238.22 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=43.82;MQ0=4;OQ=1529.43;QD=28.32;SB=-495.19 GT:AD:DP:GL:GQ 1/1:0,54:47:-156.56,-14.17,-0.03:99 -chr1 5075150 rs9439578 T G 135.05 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=2.71;MQ=50.05;MQ0=3;OQ=2063.78;QD=31.75;SB=-748.06 GT:AD:DP:GL:GQ 1/1:0,65:60:-209.99,-18.08,-0.02:99 -chr1 5075197 rs10915347 C T 55.81 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=2.29;MQ=47.56;MQ0=6;OQ=2171.81;QD=32.91;SB=-915.72 GT:AD:DP:GL:GQ 1/1:0,65:56:-220.79,-16.88,-0.02:99 -chr1 5075319 rs28828787 G A 102.87 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=26.02;MQ0=15;OQ=432.78;QD=8.32;SB=-48.66 GT:AD:DP:GL:GQ 0/1:29,23:28:-55.00,-8.44,-46.26:99 -chr1 5075370 rs10799164 C T 16.89 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=0;HaplotypeScore=0.63;MQ=20.22;MQ0=13;OQ=746.84;QD=17.78;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,40:19:-78.27,-5.72,-0.00:57.19 -chr1 5075558 rs10799165 C T 9.35 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=9.90;MQ=22.74;MQ0=30;OQ=955.91;QD=12.58;SB=-324.43 GT:AD:DP:GL:GQ 1/1:31,45:25:-99.18,-7.53,-0.01:75.24 -chr1 5075601 rs10753349 C T 1.18 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=10.53;MQ=14.77;MQ0=51;OQ=525.81;QD=6.49;SB=-249.33 GT:AD:DP:GL:GQ 1/1:43,38:14:-56.17,-4.22,-0.00:42.14 -chr1 5075696 rs4949168 A G 0.23 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=5.94;MQ=11.29;MQ0=39;OQ=183.21;QD=2.91;SB=-118.05 GT:AD:DP:GL:GQ 1/1:33,30:6:-21.89,-1.81,-0.00:18.06 -chr1 5075699 rs10799166 G C 0.14 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=5.78;MQ=10.86;MQ0=38;OQ=173.64;QD=2.85;SB=-103.85 GT:AD:DP:GL:GQ 1/1:32,29:5:-20.93,-1.51,-0.00:15.05 -chr1 5075751 rs4949159 C A 0.57 PASS AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;HRun=1;HaplotypeScore=9.84;MQ=21.77;MQ0=1;OQ=523.96;QD=14.55;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,33:15:-55.98,-4.52,-0.00:45.14 -chr1 5075757 rs4949167 T C 1.62 PASS AC=2;AF=1.00;AN=2;DB;DP=42;Dels=0.00;HRun=1;HaplotypeScore=5.17;MQ=21.64;MQ0=3;OQ=605.43;QD=14.41;SB=-10.00 GT:AD:DP:GL:GQ 1/1:7,35:18:-64.13,-5.42,-0.00:54.16 -chr1 5076314 rs9439579 C G 74.36 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=3.92;MQ=43.71;MQ0=2;OQ=2095.83;QD=33.80;SB=-956.72 GT:AD:DP:GL:GQ 1/1:3,59:49:-213.18,-14.76,-0.01:99 -chr1 5076393 rs10915349 G A 1.75 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=6.65;MQ=47.36;MQ0=1;OQ=1988.87;QD=34.29;SB=-955.74 GT:AD:DP:GL:GQ 1/1:1,57:52:-202.50,-15.68,-0.03:99 -chr1 5076841 rs10799167 C T 211.34 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=45.50;MQ0=4;OQ=2210.86;QD=35.66;SB=-962.98 GT:AD:DP:GL:GQ 1/1:1,61:56:-224.69,-16.87,-0.02:99 -chr1 5077036 rs10799168 A G 167.61 PASS AC=2;AF=1.00;AN=2;DB;DP=27;Dels=0.00;HRun=1;HaplotypeScore=0.93;MQ=21.14;MQ0=7;OQ=400.64;QD=14.84;SB=-196.71 GT:AD:DP:GL:GQ 1/1:8,19:13:-43.66,-3.92,-0.01:39.11 -chr1 5077055 rs7414866 A G 123.85 PASS AC=2;AF=1.00;AN=2;DB;DP=21;Dels=0.00;HRun=0;HaplotypeScore=0.73;MQ=21.33;MQ0=4;OQ=281.43;QD=13.40;SB=-64.87 GT:AD:DP:GL:GQ 1/1:4,17:10:-31.74,-3.02,-0.01:30.04 -chr1 5077077 rs7412613 C T 3.36 PASS AC=2;AF=1.00;AN=2;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=1.37;MQ=22.40;MQ0=3;OQ=333.18;QD=18.51;SB=-10.00 GT:AD:DP:GL:GQ 1/1:2,15:9:-36.90,-2.71,-0.00:27.09 -chr1 5077090 . C A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=28;Dels=0.00;HRun=2;HaplotypeScore=4.92;MQ=29.30;MQ0=3;OQ=51.83;QD=1.85;SB=-3.99 GT:AD:DP:GL:GQ 0/1:19,9:11:-11.79,-3.32,-22.43:84.66 -chr1 5077136 rs55919453 T G 371.05 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=38.18;MQ0=2;OQ=1590.74;QD=31.81;SB=-546.07 GT:AD:DP:GL:GQ 1/1:0,50:44:-162.67,-13.25,-0.01:99 -chr1 5077346 rs28778348 C A 55.21 PASS AC=2;AF=1.00;AN=2;DB;DP=30;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=26.70;MQ0=2;OQ=838.40;QD=27.95;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,29:24:-87.43,-7.23,-0.01:72.21 -chr1 5077349 rs28898289 T G 16.95 PASS AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=26.06;MQ0=2;OQ=780.24;QD=25.17;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,31:23:-81.62,-6.93,-0.01:69.20 -chr1 5077435 rs7415381 A T 121.52 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.10;MQ=26.22;MQ0=5;OQ=1349.62;QD=28.72;SB=-637.67 GT:AD:DP:GL:GQ 1/1:0,47:37:-138.56,-11.15,-0.01:99 -chr1 5077528 rs56184987 T C 231.69 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=24.13;MQ0=2;OQ=814.91;QD=18.95;SB=-252.77 GT:AD:DP:GL:GQ 1/1:0,43:27:-85.10,-8.15,-0.03:81.19 -chr1 5077549 rs55934905 G A 0.24 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=3;HaplotypeScore=0.98;MQ=23.80;MQ0=7;OQ=1118.88;QD=22.38;SB=-246.01 GT:AD:DP:GL:GQ 1/1:0,50:29:-115.48,-8.74,-0.01:87.28 -chr1 5077770 rs60669416 C A 584.28 Indel AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=10;HaplotypeScore=19.78;MQ=46.83;MQ0=2;QD=11.69;SB=-270.35 GT:AD:DP:GL:GQ 0/1:25,24:45:-75.27,-13.56,-79.00:99 -chr1 5077806 rs2334261 C T 3.91 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.02;HRun=2;HaplotypeScore=6.33;MQ=31.47;MQ0=13;OQ=1098.90;QD=20.35;SB=-473.36 GT:AD:DP:GL:GQ 1/1:5,48:29:-113.48,-8.43,-0.01:84.27 -chr1 5077915 rs11582268 A T 437.65 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=22.80;MQ0=5;OQ=869.48;QD=19.32;SB=-460.68 GT:AD:DP:GL:GQ 1/1:0,44:25:-90.55,-7.54,-0.02:75.21 -chr1 5078308 rs12043988 C A 291.59 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=47.74;MQ0=0;OQ=2467.70;QD=37.39;SB=-935.67 GT:AD:DP:GL:GQ 1/1:0,66:65:-250.36,-19.57,-0.01:99 -chr1 5078509 rs9439503 T C 20.38 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=4.15;MQ=38.39;MQ0=4;OQ=1877.97;QD=28.03;SB=-657.32 GT:AD:DP:GL:GQ 1/1:1,66:53:-191.40,-15.96,-0.02:99 -chr1 5078532 rs9439504 C G 494.66 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=35.41;MQ0=3;OQ=2205.88;QD=36.16;SB=-588.53 GT:AD:DP:GL:GQ 1/1:0,61:50:-224.18,-15.06,-0.01:99 -chr1 5078612 rs10915350 C T 169.93 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=47.49;MQ0=1;OQ=2196.12;QD=36.60;SB=-847.62 GT:AD:DP:GL:GQ 1/1:1,58:57:-223.22,-17.18,-0.02:99 -chr1 5079390 rs10799170 A C 350.19 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=57.35;MQ0=0;OQ=2787.95;QD=35.29;SB=-1421.63 GT:AD:DP:GL:GQ 1/1:0,79:78:-282.40,-23.49,-0.02:99 -chr1 5079434 rs10915352 G T 571.75 PASS AC=2;AF=1.00;AN=2;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.02;MQ0=0;OQ=3162.32;QD=36.77;SB=-1557.78 GT:AD:DP:GL:GQ 1/1:0,86:86:-319.84,-25.90,-0.02:99 -chr1 5079595 rs10915353 G C 43.37 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.36;MQ0=0;OQ=2638.35;QD=40.59;SB=-999.16 GT:AD:DP:GL:GQ 1/1:0,65:61:-267.45,-18.39,-0.03:99 -chr1 5079666 rs6701939 T C 563.06 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=2172.86;QD=35.05;SB=-713.27 GT:AD:DP:GL:GQ 1/1:0,62:60:-220.89,-18.07,-0.02:99 -chr1 5080376 . C T 202.08 PASS AC=1;AF=0.50;AN=2;DP=38;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.09;MQ0=0;OQ=426.51;QD=11.22;SB=-188.16 GT:AD:DP:GL:GQ 0/1:24,14:37:-57.08,-11.15,-81.03:99 -chr1 5080399 . C A 264.12 DPFilter;Indel AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=20;HaplotypeScore=11.69;MQ=57.12;MQ0=0;QD=4.63;SB=53.19 GT:AD:DP:GL:GQ 0/1:38,19:40:-41.75,-12.05,-100.11:99 -chr1 5080680 rs10753350 A G 105.81 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=2.00;MQ=58.32;MQ0=0;OQ=1525.28;QD=28.25;SB=-610.83 GT:AD:DP:GL:GQ 1/1:0,54:51:-156.18,-15.39,-0.07:99 -chr1 5080690 rs10753351 A C 1.11 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=3;HaplotypeScore=2.95;MQ=55.25;MQ0=0;OQ=2140.46;QD=31.48;SB=-1004.07 GT:AD:DP:GL:GQ 1/1:0,68:63:-217.66,-18.98,-0.03:99 -chr1 5081475 rs10737396 T C 76.32 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=3;HaplotypeScore=0.91;MQ=60.00;MQ0=0;OQ=2367.06;QD=33.34;SB=-935.73 GT:AD:DP:GL:GQ 1/1:0,71:67:-240.32,-20.19,-0.03:99 -chr1 5081878 rs2722794 T G 569.46 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.93;MQ0=0;OQ=2825.92;QD=34.89;SB=-1425.62 GT:AD:DP:GL:GQ 1/1:0,81:79:-286.20,-23.79,-0.02:99 -chr1 5081972 rs2611426 T A 81.80 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=1;HaplotypeScore=1.88;MQ=59.18;MQ0=0;OQ=2310.37;QD=35.01;SB=-624.95 GT:AD:DP:GL:GQ 1/1:0,66:62:-234.64,-18.68,-0.02:99 -chr1 5083407 rs2045587 A G 34.52 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=59.31;MQ0=0;OQ=1821.48;QD=33.73;SB=-913.93 GT:AD:DP:GL:GQ 1/1:0,54:52:-185.75,-15.67,-0.02:99 -chr1 5083733 rs4313443 C T 652.84 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2295.78;QD=39.58;SB=-913.70 GT:AD:DP:GL:GQ 1/1:0,58:58:-233.18,-17.47,-0.01:99 -chr1 5083785 rs4356099 G A 29.40 PASS AC=2;AF=1.00;AN=2;DB;DP=43;Dels=0.00;HRun=1;HaplotypeScore=1.30;MQ=60.00;MQ0=0;OQ=1676.22;QD=38.98;SB=-527.70 GT:AD:DP:GL:GQ 1/1:0,43:43:-171.22,-12.96,-0.02:99 -chr1 5083937 rs2722793 G T 729.18 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.44;MQ0=0;OQ=2771.95;QD=36.96;SB=-1328.90 GT:AD:DP:GL:GQ 1/1:0,75:75:-280.80,-22.59,-0.02:99 -chr1 5084549 rs10753352 G C 80.52 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.74;MQ0=0;OQ=3116.41;QD=42.69;SB=-1439.29 GT:AD:DP:GL:GQ 1/1:0,73:73:-315.25,-22.00,-0.03:99 -chr1 5085006 rs2722792 C A 486.51 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.46;MQ0=0;OQ=3029.86;QD=36.95;SB=-1518.84 GT:AD:DP:GL:GQ 1/1:0,82:81:-306.59,-24.39,-0.02:99 -chr1 5085686 rs2611419 A C 735.40 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=2513.45;QD=35.40;SB=-1104.10 GT:AD:DP:GL:GQ 1/1:0,71:71:-254.95,-21.38,-0.02:99 -chr1 5087139 rs2611420 C G 615.49 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3365.59;QD=43.15;SB=-1251.98 GT:AD:DP:GL:GQ 1/1:0,78:76:-335.56,-22.90,-0.03:99 -chr1 5087240 rs2611421 C T 489.75 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=3117.95;QD=41.03;SB=-1433.39 GT:AD:DP:GL:GQ 1/1:0,76:76:-315.39,-22.89,-0.01:99 -chr1 5087511 rs2722791 G A 190.82 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=2.68;MQ=59.73;MQ0=0;OQ=3174.39;QD=37.35;SB=-1593.03 GT:AD:DP:GL:GQ 1/1:0,85:81:-321.05,-24.40,-0.02:99 -chr1 5088299 rs2611422 C T 24.96 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.01;HRun=4;HaplotypeScore=1.63;MQ=59.49;MQ0=0;OQ=3139.82;QD=38.29;SB=-1155.06 GT:AD:DP:GL:GQ 1/1:0,81:82:-317.60,-24.41,-0.03:99 -chr1 5088851 rs898338 G T 586.23 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1967.21;QD=32.25;SB=-901.77 GT:AD:DP:GL:GQ 1/1:0,61:55:-200.32,-16.57,-0.02:99 -chr1 5091688 rs11588537 G C 0.39 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=2;HaplotypeScore=2.02;MQ=59.44;MQ0=0;OQ=1667.23;QD=40.66;SB=-503.13 GT:AD:DP:GL:GQ 1/1:0,41:41:-170.32,-12.36,-0.02:99 -chr1 5092085 rs4245628 G A 151.82 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.46;MQ=59.41;MQ0=0;OQ=3066.13;QD=39.31;SB=-1187.61 GT:AD:DP:GL:GQ 1/1:0,78:77:-310.22,-23.19,-0.02:99 -chr1 5092563 rs6671889 C A 625.41 PASS AC=2;AF=1.00;AN=2;DB;DP=83;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.16;MQ0=0;OQ=3060.89;QD=36.88;SB=-1358.20 GT:AD:DP:GL:GQ 1/1:0,83:82:-309.69,-24.69,-0.01:99 -chr1 5092609 rs4949165 G C 633.91 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.03;MQ0=0;OQ=3087.67;QD=42.88;SB=-1533.25 GT:AD:DP:GL:GQ 1/1:0,72:72:-312.37,-21.69,-0.02:99 -chr1 5092886 rs10492923 A G 560.12 PASS AC=1;AF=0.50;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=897.90;QD=12.47;SB=-469.86 GT:AD:DP:GL:GQ 0/1:34,38:69:-113.87,-20.80,-132.03:99 -chr1 5093533 rs9439505 C T 206.84 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=2.29;MQ=59.13;MQ0=0;OQ=1236.94;QD=16.49;SB=-238.14 GT:AD:DP:GL:GQ 0/1:38,37:73:-148.98,-22.00,-117.20:99 -chr1 5093841 rs12143009 G A 1328.69 Indel AC=1;AF=0.50;AN=2;DB;DP=87;Dels=0.00;HRun=3;HaplotypeScore=2.85;MQ=59.81;MQ0=1;QD=15.27;SB=-676.33 GT:AD:DP:GL:GQ 0/1:46,41:84:-161.46,-25.31,-156.05:99 -chr1 5094064 rs16840020 C T 380.84 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=1.11;MQ=59.40;MQ0=0;OQ=843.58;QD=13.61;SB=-387.37 GT:AD:DP:GL:GQ 0/1:36,26:61:-106.01,-18.37,-128.57:99 -chr1 5094308 rs9439536 C G 94.57 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=-0.06;MQ=57.94;MQ0=0;OQ=2369.61;QD=43.08;SB=-1192.92 GT:AD:DP:GL:GQ 1/1:0,55:55:-240.56,-16.57,-0.02:99 -chr1 5094675 rs9439537 G A 205.12 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=56.69;MQ0=0;OQ=2327.54;QD=36.95;SB=-997.02 GT:AD:DP:GL:GQ 1/1:0,63:59:-236.35,-17.77,-0.02:99 -chr1 5095027 rs10737397 A C 379.35 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.02;HRun=2;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=1853.36;QD=34.97;SB=-880.10 GT:AD:DP:GL:GQ 1/1:0,52:52:-188.93,-15.66,-0.01:99 -chr1 5095151 rs10915359 A G 343.67 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=1.56;MQ=60.00;MQ0=0;OQ=1130.12;QD=15.92;SB=-404.21 GT:AD:DP:GL:GQ 0/1:33,38:69:-137.08,-20.78,-130.21:99 -chr1 5095177 rs12122020 C T 430.32 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1196.16;QD=13.91;SB=-341.80 GT:AD:DP:GL:GQ 0/1:49,37:84:-148.20,-25.30,-177.14:99 -chr1 5095231 rs10492925 T C 590.40 PASS AC=1;AF=0.50;AN=2;DB;DP=85;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=1272.89;QD=14.98;SB=-556.65 GT:AD:DP:GL:GQ 0/1:35,50:83:-155.59,-25.02,-138.70:99 -chr1 5095242 rs12045223 A T 548.90 PASS AC=1;AF=0.50;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.56;MQ0=0;OQ=1555.76;QD=18.52;SB=-658.48 GT:AD:DP:GL:GQ 0/1:35,49:82:-183.56,-24.70,-128.89:99 -chr1 5096599 rs9439506 A G 501.16 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.61;MQ0=0;OQ=607.79;QD=10.30;SB=-265.38 GT:AD:DP:GL:GQ 0/1:36,23:58:-81.54,-17.47,-140.55:99 -chr1 5097069 . C T 27.83 PASS AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.95;MQ0=0;OQ=280.61;QD=35.08;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,8:8:-31.64,-2.41,-0.00:24.08 -chr1 5097076 . C A 58.51 PASS AC=2;AF=1.00;AN=2;DP=8;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=53.95;MQ0=0;OQ=242.27;QD=30.28;SB=-10.00 GT:AD:DP:GL:GQ 1/1:0,8:8:-27.81,-2.41,-0.00:24.07 -chr1 5097414 rs34593428 C T 209.20 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=1.12;MQ=60.00;MQ0=0;OQ=915.00;QD=14.52;SB=-282.17 GT:AD:DP:GL:GQ 0/1:34,29:62:-113.46,-18.67,-123.11:99 -chr1 5097811 rs10799172 T C 730.17 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.45;MQ0=0;OQ=2361.85;QD=34.73;SB=-1109.84 GT:AD:DP:GL:GQ 1/1:0,68:67:-239.79,-20.18,-0.02:99 -chr1 5097837 rs10799173 C T 610.42 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.49;MQ0=0;OQ=2894.02;QD=39.64;SB=-1458.48 GT:AD:DP:GL:GQ 1/1:0,73:72:-293.00,-21.69,-0.02:99 -chr1 5098649 rs16840051 C T 466.71 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=59.76;MQ0=0;OQ=1115.98;QD=14.31;SB=-521.66 GT:AD:DP:GL:GQ 0/1:43,35:76:-137.77,-22.89,-150.84:99 -chr1 5099594 rs61576661 T C 2.98 PASS AC=1;AF=0.50;AN=2;DB;DP=54;Dels=0.02;HRun=0;HaplotypeScore=9.91;MQ=59.43;MQ0=0;OQ=660.15;QD=12.23;SB=-250.93 GT:AD:DP:GL:GQ 0/1:29,24:54:-85.27,-15.97,-115.92:99 -chr1 5100592 rs6681359 C T 709.39 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.69;MQ0=0;OQ=3001.23;QD=40.02;SB=-1288.71 GT:AD:DP:GL:GQ 1/1:0,75:75:-303.72,-22.59,-0.02:99 -chr1 5102008 rs7543139 A C 24.50 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=8.00;MQ=58.40;MQ0=0;OQ=1023.25;QD=14.62;SB=-311.81 GT:AD:DP:GL:GQ 0/1:35,35:67:-125.80,-20.19,-114.71:99 -chr1 5102179 rs16840055 A G 103.26 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=0.48;MQ=59.41;MQ0=0;OQ=1029.92;QD=14.51;SB=-438.97 GT:AD:DP:GL:GQ 0/1:36,35:69:-127.06,-20.79,-136.54:99 -chr1 5103146 rs4484964 T C 669.95 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.67;MQ0=0;OQ=2031.10;QD=32.24;SB=-774.73 GT:AD:DP:GL:GQ 1/1:0,63:62:-206.74,-18.69,-0.04:99 -chr1 5103788 . G T 167.53 PASS AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.70;MQ0=0;OQ=1064.37;QD=14.00;SB=-541.64 GT:AD:DP:GL:GQ 0/1:38,38:74:-132.01,-22.29,-131.40:99 -chr1 5106305 rs9439509 G A 600.29 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.19;MQ0=0;OQ=2218.17;QD=38.92;SB=-991.33 GT:AD:DP:GL:GQ 1/1:0,57:57:-225.42,-17.18,-0.02:99 -chr1 5106499 rs4345839 A G 149.68 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=1.56;MQ=59.43;MQ0=0;OQ=2177.60;QD=33.50;SB=-1108.75 GT:AD:DP:GL:GQ 1/1:0,64:62:-221.38,-18.68,-0.03:99 -chr1 5107407 rs4584438 T G 105.42 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=1.66;MQ=60.00;MQ0=0;OQ=2390.91;QD=33.67;SB=-961.60 GT:AD:DP:GL:GQ 1/1:0,70:70:-246.35,-24.25,-3.68:99 -chr1 5107616 rs4543848 T C 111.63 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=2.89;MQ=59.72;MQ0=0;OQ=2325.30;QD=34.71;SB=-962.92 GT:AD:DP:GL:GQ 1/1:0,67:66:-236.14,-19.88,-0.02:99 -chr1 5107713 . A C 103.40 PASS AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=1;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=1036.38;QD=12.79;SB=-351.52 GT:AD:DP:GL:GQ 0/1:44,37:81:-131.32,-24.40,-159.14:99 -chr1 5109104 rs12025231 C T 369.55 PASS AC=1;AF=0.50;AN=2;DB;DP=97;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=60.00;MQ0=0;OQ=1428.81;QD=14.73;SB=-339.81 GT:AD:DP:GL:GQ 0/1:53,44:96:-175.10,-28.94,-171.50:99 -chr1 5109781 rs9439510 C G 474.11 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3322.39;QD=44.30;SB=-1477.33 GT:AD:DP:GL:GQ 1/1:0,75:75:-331.24,-22.59,-0.02:99 -chr1 5109984 rs12121369 C A 599.91 PASS AC=1;AF=0.50;AN=2;DB;DP=86;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.73;MQ0=0;OQ=1366.71;QD=15.89;SB=-516.80 GT:AD:DP:GL:GQ 0/1:40,46:85:-165.55,-25.60,-144.36:99 -chr1 5110261 rs7538704 G C 501.84 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=1089.65;QD=15.35;SB=-449.75 GT:AD:DP:GL:GQ 0/1:33,38:67:-132.47,-20.22,-140.33:99 -chr1 5110586 rs4462197 C T 256.57 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.00;MQ0=0;OQ=2327.86;QD=37.55;SB=-1085.00 GT:AD:DP:GL:GQ 1/1:0,62:59:-236.39,-17.78,-0.02:99 -chr1 5110994 rs10753353 T C 229.27 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.87;MQ=59.74;MQ0=0;OQ=2543.07;QD=35.32;SB=-1168.48 GT:AD:DP:GL:GQ 1/1:0,72:71:-257.91,-21.39,-0.02:99 -chr1 5111198 rs12027352 C T 56.90 PASS AC=1;AF=0.50;AN=2;DB;DP=93;Dels=0.00;HRun=2;HaplotypeScore=3.00;MQ=59.50;MQ0=0;OQ=1422.29;QD=15.29;SB=-680.29 GT:AD:DP:GL:GQ 0/1:47,46:88:-172.02,-26.51,-161.50:99 -chr1 5111405 rs4314925 G A 196.97 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=59.36;MQ0=0;OQ=2517.06;QD=38.72;SB=-1234.63 GT:AD:DP:GL:GQ 1/1:0,65:64:-255.31,-19.28,-0.02:99 -chr1 5112055 rs12145645 G A 578.52 PASS AC=1;AF=0.50;AN=2;DB;DP=74;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.38;MQ0=0;OQ=1010.93;QD=13.66;SB=-362.83 GT:AD:DP:GL:GQ 0/1:42,32:72:-126.06,-21.69,-149.75:99 -chr1 5112088 rs61762208 G A 38.27 PASS AC=1;AF=0.50;AN=2;DB;DP=83;Dels=0.00;HRun=2;HaplotypeScore=1.85;MQ=59.44;MQ0=0;OQ=1643.08;QD=19.80;SB=-651.68 GT:AD:DP:GL:GQ 0/1:37,46:82:-192.29,-24.70,-131.13:99 -chr1 5112135 rs12741116 A G 713.71 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=2397.16;QD=35.25;SB=-898.68 GT:AD:DP:GL:GQ 1/1:0,68:67:-243.32,-20.18,-0.02:99 -chr1 5113244 rs4600091 T C 489.07 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2494.81;QD=29.70;SB=-1138.12 GT:AD:DP:GL:GQ 1/1:0,84:79:-253.13,-23.82,-0.07:99 -chr1 5113507 rs10753354 C G 401.42 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.65;MQ0=0;OQ=2295.20;QD=42.50;SB=-1097.09 GT:AD:DP:GL:GQ 1/1:0,54:54:-233.13,-16.28,-0.02:99 -chr1 5113815 rs6698288 G A 330.13 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2134.65;QD=39.53;SB=-887.16 GT:AD:DP:GL:GQ 1/1:0,54:54:-217.07,-16.27,-0.02:99 -chr1 5114383 rs7517431 C G 606.11 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.11;MQ0=0;OQ=920.14;QD=14.61;SB=-463.75 GT:AD:DP:GL:GQ 0/1:36,27:62:-113.98,-18.68,-155.27:99 -chr1 5114445 rs7517449 C T 297.77 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.63;MQ0=0;OQ=2115.05;QD=38.46;SB=-1037.87 GT:AD:DP:GL:GQ 1/1:0,55:54:-215.11,-16.27,-0.02:99 -chr1 5114723 rs10915361 C T 120.85 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=3.02;MQ=58.20;MQ0=0;OQ=931.19;QD=19.81;SB=-478.50 GT:AD:DP:GL:GQ 0/1:19,28:46:-110.26,-13.86,-62.96:99 -chr1 5115596 rs9439538 T C 593.80 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1568.48;QD=30.16;SB=-606.93 GT:AD:DP:GL:GQ 1/1:0,52:50:-160.48,-15.08,-0.04:99 -chr1 5115679 rs12021698 A T 372.77 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.37;MQ0=0;OQ=887.17;QD=15.04;SB=-310.70 GT:AD:DP:GL:GQ 0/1:30,29:59:-109.77,-17.77,-114.78:99 -chr1 5115822 rs56173770 C G 132.01 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1600.81;QD=26.68;SB=-808.51 GT:AD:DP:GL:GQ 0/1:19,41:59:-181.14,-17.77,-78.42:99 -chr1 5115851 rs9439539 T A 636.93 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.73;MQ0=0;OQ=2566.28;QD=37.74;SB=-1304.50 GT:AD:DP:GL:GQ 1/1:0,68:67:-260.22,-20.18,-0.01:99 -chr1 5117179 rs5009987 A G 1517.20 Indel AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=20.42;MQ=58.93;MQ0=0;QD=27.59;SB=-603.23 GT:AD:DP:GL:GQ 1/1:2,53:53:-162.87,-15.98,-7.57:84.15 -chr1 5117504 rs10799174 G A 14.48 PASS AC=1;AF=0.50;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=8.52;MQ=58.73;MQ0=0;OQ=1003.11;QD=18.24;SB=-483.50 GT:AD:DP:GL:GQ 0/1:24,31:52:-119.27,-15.67,-72.69:99 -chr1 5117533 rs6672724 C T 186.08 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.58;MQ=58.63;MQ0=0;OQ=1901.56;QD=37.29;SB=-943.75 GT:AD:DP:GL:GQ 1/1:0,51:50:-193.77,-15.07,-0.02:99 -chr1 5118461 rs9439511 C T 378.94 PASS AC=1;AF=0.50;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.83;MQ=58.91;MQ0=0;OQ=1153.56;QD=14.98;SB=-536.73 GT:AD:DP:GL:GQ 0/1:42,35:77:-141.84,-23.20,-148.03:99 -chr1 5119340 rs12401983 G A 186.94 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=1;HaplotypeScore=2.35;MQ=52.79;MQ0=0;OQ=1320.64;QD=16.93;SB=-541.57 GT:AD:DP:GL:GQ 0/1:37,40:76:-158.24,-22.89,-135.98:99 -chr1 5119644 rs55835407 G A 140.46 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.47;MQ=42.95;MQ0=4;OQ=797.21;QD=12.86;SB=-199.88 GT:AD:DP:GL:GQ 0/1:35,27:56:-99.88,-16.88,-103.36:99 -chr1 5119704 rs56293801 T C 75.11 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=2.00;MQ=42.91;MQ0=1;OQ=434.63;QD=8.36;SB=-212.22 GT:AD:DP:GL:GQ 0/1:32,20:46:-60.61,-13.87,-109.45:99 -chr1 5119914 rs12097824 T C 114 PASS AC=1;AF=0.50;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=3.43;MQ=39.01;MQ0=0;OQ=589.79;QD=9.51;SB=-187.41 GT:AD:DP:GL:GQ 0/1:33,29:57:-79.44,-17.18,-127.34:99 -chr1 5120013 rs56126017 C G 210.02 PASS AC=1;AF=0.50;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.93;MQ=35.32;MQ0=0;OQ=1020.64;QD=14.38;SB=-272.51 GT:AD:DP:GL:GQ 0/1:43,28:70:-126.44,-21.09,-178.51:99 -chr1 5120085 . G A 0.02 FDRtranche1.00to2.00 AC=1;AF=0.50;AN=2;DP=101;Dels=0.01;HRun=0;HaplotypeScore=11.89;MQ=34.93;MQ0=0;OQ=541.17;QD=5.36;SB=13.62 GT:AD:DP:GL:GQ 0/1:77,23:97:-86.32,-28.91,-276.66:99 -chr1 5120089 . T A 0.03 FDRtranche0.10to1.00 AC=1;AF=0.50;AN=2;DP=102;Dels=0.00;HRun=0;HaplotypeScore=10.97;MQ=34.87;MQ0=0;OQ=894.55;QD=8.77;SB=-13.59 GT:AD:DP:GL:GQ 0/1:68,34:99:-122.56,-29.82,-255.26:99 -chr1 5120116 . A T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=117;Dels=0.02;HRun=0;HaplotypeScore=143.29;MQ=34.92;MQ0=0;OQ=962.81;QD=8.23;SB=-91.05 GT:AD:DP:GL:GQ 0/1:76,37:114:-138.10,-38.53,-297.11:99 -chr1 5120146 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=141;Dels=0.01;HRun=0;HaplotypeScore=240.33;MQ=33.11;MQ0=0;OQ=492.54;QD=3.49;SB=14.98 GT:AD:DP:GL:GQ 0/1:116,23:120:-88.08,-35.54,-336.13:99 -chr1 5120150 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=150;Dels=0.03;HRun=0;HaplotypeScore=253.70;MQ=32.31;MQ0=0;OQ=526.30;QD=3.51;SB=-209.96 GT:AD:DP:GL:GQ 0/1:122,23:125:-96.24,-40.33,-348.30:99 -chr1 5120166 rs61762214 C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DB;DP=169;Dels=0.02;HRun=0;HaplotypeScore=340.16;MQ=31.74;MQ0=0;OQ=707.91;QD=4.19;SB=-238.38 GT:AD:DP:GL:GQ 0/1:128,38:158:-120.76,-46.69,-441.60:99 -chr1 5120182 . T C 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=171;Dels=0.00;HRun=0;HaplotypeScore=247.34;MQ=30.32;MQ0=1;OQ=181.12;QD=1.06;SB=99.79 GT:AD:DP:GL:GQ 0/1:146,25:160:-69.62,-48.22,-544.70:99 -chr1 5120218 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=186;Dels=0.00;HRun=0;HaplotypeScore=296.87;MQ=30.08;MQ0=1;OQ=467.02;QD=2.51;SB=-243.49 GT:AD:DP:GL:GQ 0/1:160,26:175:-102.70,-52.71,-541.07:99 -chr1 5120238 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=187;Dels=0.01;HRun=0;HaplotypeScore=156.33;MQ=31.62;MQ0=1;OQ=98.86;QD=0.53;SB=35.37 GT:AD:DP:GL:GQ 0/1:164,15:172:-86.49,-73.32,-562.87:99 -chr1 5120240 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=184;Dels=0.01;HRun=0;HaplotypeScore=148.66;MQ=31.61;MQ0=1;OQ=319.23;QD=1.73;SB=30.34 GT:AD:DP:GL:GQ 0/1:160,22:170:-85.81,-50.61,-526.60:99 -chr1 5120250 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=164;Dels=0.00;HRun=0;HaplotypeScore=149.91;MQ=33.54;MQ0=1;OQ=262.42;QD=1.60;SB=170.48 GT:AD:DP:GL:GQ 0/1:144,20:159:-77.42,-47.90,-500.91:99 -chr1 5120252 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=152;Dels=0.00;HRun=0;HaplotypeScore=134.92;MQ=34.14;MQ0=1;OQ=1590.07;QD=10.46;SB=-170.99 GT:AD:DP:GL:GQ 0/1:98,53:143:-208.80,-46.51,-329.18:99 -chr1 5121185 . T C 32.44 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.07;MQ=59.52;MQ0=0;OQ=529.93;QD=11.04;SB=-169.50 GT:AD:DP:GL:GQ 0/1:26,22:46:-70.14,-13.86,-100.33:99 -chr1 5122129 rs10915363 G C 183.28 PASS AC=1;AF=0.50;AN=2;DB;DP=70;Dels=0.00;HRun=2;HaplotypeScore=0.73;MQ=59.47;MQ0=0;OQ=1248.82;QD=17.84;SB=-543.72 GT:AD:DP:GL:GQ 0/1:31,39:66:-148.06,-19.89,-135.32:99 -chr1 5122156 rs10915364 G C 495.83 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=1017.04;QD=16.14;SB=-464.81 GT:AD:DP:GL:GQ 0/1:31,32:62:-123.68,-18.70,-134.13:99 -chr1 5122248 rs11804873 C T 62.77 PASS AC=1;AF=0.50;AN=2;DB;DP=38;Dels=0.00;HRun=0;HaplotypeScore=1.32;MQ=59.39;MQ0=0;OQ=700.13;QD=18.42;SB=-213.90 GT:AD:DP:GL:GQ 0/1:16,22:37:-84.44,-11.15,-55.54:99 -chr1 5122456 rs10915365 C T 167.44 PASS AC=1;AF=0.50;AN=2;DB;DP=39;Dels=0.00;HRun=1;HaplotypeScore=2.45;MQ=59.52;MQ0=0;OQ=504.80;QD=12.94;SB=-201.18 GT:AD:DP:GL:GQ 0/1:22,17:38:-65.21,-11.45,-78.02:99 -chr1 5122978 rs12024162 T C 1.83 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=6.85;MQ=58.05;MQ0=0;OQ=2287.65;QD=35.19;SB=-898.04 GT:AD:DP:GL:GQ 1/1:1,64:63:-232.37,-18.97,-0.02:99 -chr1 5123042 rs12026730 G A 134.42 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=3.61;MQ=56.89;MQ0=0;OQ=1205.15;QD=19.76;SB=-414.94 GT:AD:DP:GL:GQ 0/1:25,36:58:-141.29,-17.49,-70.06:99 -chr1 5123330 rs9439540 C A 63.17 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=60.37;MQ0=0;OQ=975.37;QD=16.53;SB=-180.54 GT:AD:DP:GL:GQ 0/1:27,32:57:-117.99,-17.17,-89.17:99 -chr1 5124476 rs17366543 A G 248.41 PASS AC=1;AF=0.50;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=1.31;MQ=60.00;MQ0=0;OQ=919.81;QD=12.26;SB=-428.10 GT:AD:DP:GL:GQ 0/1:42,33:74:-117.56,-22.29,-166.31:99 -chr1 5126548 rs6690311 A G 73.75 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=3.31;MQ=60.00;MQ0=0;OQ=1952.07;QD=34.25;SB=-789.11 GT:AD:DP:GL:GQ 1/1:0,56:56:-198.81,-16.87,-0.02:99 -chr1 5126612 rs6675995 G A 137.58 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=1;HaplotypeScore=2.05;MQ=59.06;MQ0=0;OQ=2638.82;QD=38.24;SB=-1319.37 GT:AD:DP:GL:GQ 1/1:0,69:67:-267.49,-20.19,-0.02:99 -chr1 5126665 rs10799176 G A 160.71 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=59.11;MQ0=0;OQ=2842.19;QD=38.93;SB=-1393.38 GT:AD:DP:GL:GQ 1/1:0,73:72:-287.83,-21.69,-0.02:99 -chr1 5126844 rs6685929 C T 627.62 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2295.72;QD=37.63;SB=-1082.35 GT:AD:DP:GL:GQ 1/1:0,61:59:-233.18,-17.78,-0.02:99 -chr1 5126974 . G T 128.27 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.02;MQ0=0;OQ=1169.78;QD=18.87;SB=-560.81 GT:AD:DP:GL:GQ 0/1:24,38:60:-138.33,-18.07,-79.90:99 -chr1 5129269 rs11583683 C T 146.33 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=4;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=2126.34;QD=37.30;SB=-795.34 GT:AD:DP:GL:GQ 1/1:0,57:56:-216.24,-16.88,-0.02:99 -chr1 5129679 rs6603817 A G 112.83 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=3;HaplotypeScore=0.00;MQ=58.96;MQ0=0;OQ=1509.76;QD=32.82;SB=-474.53 GT:AD:DP:GL:GQ 1/1:0,46:43:-154.58,-12.95,-0.01:99 -chr1 5130606 rs4076635 G A 636.22 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2562.75;QD=38.25;SB=-1303.24 GT:AD:DP:GL:GQ 1/1:0,67:65:-259.88,-19.58,-0.02:99 -chr1 5131752 rs4394703 C A 307.05 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.37;MQ=58.90;MQ0=0;OQ=2017.11;QD=34.19;SB=-1012.79 GT:AD:DP:GL:GQ 1/1:0,58:57:-208.21,-19.84,-2.91:99 -chr1 5132477 rs6692740 A G 667.43 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.74;MQ0=0;OQ=2294.64;QD=31.43;SB=-1053.29 GT:AD:DP:GL:GQ 1/1:0,73:71:-233.10,-21.41,-0.05:99 -chr1 5133851 rs10492928 G T 624.11 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.13;MQ0=0;OQ=2734.91;QD=36.47;SB=-1337.92 GT:AD:DP:GL:GQ 1/1:0,75:75:-277.10,-22.59,-0.02:99 -chr1 5134195 rs7545119 C A 288.26 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=2.20;MQ=59.11;MQ0=0;OQ=2691.33;QD=34.50;SB=-1000.80 GT:AD:DP:GL:GQ 1/1:0,78:75:-272.75,-22.59,-0.03:99 -chr1 5135504 rs10915369 C T 488.43 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.87;MQ0=0;OQ=1900.03;QD=39.58;SB=-759.52 GT:AD:DP:GL:GQ 1/1:0,48:48:-193.60,-14.46,-0.01:99 -chr1 5135682 rs11583044 G A 156.17 PASS AC=2;AF=1.00;AN=2;DB;DP=44;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=56.88;MQ0=0;OQ=1535.65;QD=34.90;SB=-689.33 GT:AD:DP:GL:GQ 1/1:0,44:41:-157.17,-12.36,-0.02:99 -chr1 5135692 rs10915370 C T 137.61 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=56.35;MQ0=0;OQ=2137.06;QD=38.16;SB=-962.28 GT:AD:DP:GL:GQ 1/1:0,56:55:-217.31,-16.57,-0.02:99 -chr1 5138733 rs10915371 G A 186.78 PASS AC=2;AF=1.00;AN=2;DB;DP=94;Dels=0.00;HRun=0;HaplotypeScore=1.52;MQ=58.20;MQ0=0;OQ=3762.30;QD=40.02;SB=-1754.36 GT:AD:DP:GL:GQ 1/1:0,94:93:-375.23,-28.01,-0.02:99 -chr1 5139307 rs9439541 A T 634.34 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3003.64;QD=37.55;SB=-1255.20 GT:AD:DP:GL:GQ 1/1:0,80:79:-303.97,-23.79,-0.02:99 -chr1 5139791 rs6603818 C T 714.35 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.73;MQ0=0;OQ=2781.44;QD=39.73;SB=-1291.72 GT:AD:DP:GL:GQ 1/1:0,70:70:-281.75,-21.09,-0.02:99 -chr1 5140071 rs7547229 C T 724.83 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3128.00;QD=38.62;SB=-1344.39 GT:AD:DP:GL:GQ 1/1:0,81:78:-316.40,-23.49,-0.02:99 -chr1 5140234 . A C 162.19 PASS AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=60.00;MQ0=0;OQ=858.81;QD=15.61;SB=-394.78 GT:AD:DP:GL:GQ 0/1:24,31:53:-105.13,-15.96,-88.06:99 -chr1 5141171 rs6688418 G A 695.26 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2832.24;QD=40.46;SB=-1208.37 GT:AD:DP:GL:GQ 1/1:0,70:70:-286.82,-21.08,-0.01:99 -chr1 5141665 . C T 43.31 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.98;MQ=59.95;MQ0=0;OQ=985.11;QD=18.24;SB=-409.92 GT:AD:DP:GL:GQ 0/1:25,29:53:-117.76,-15.96,-94.79:99 -chr1 5141935 rs6701052 C T 100.43 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=1;HaplotypeScore=0.66;MQ=49.80;MQ0=8;OQ=1859.57;QD=32.06;SB=-869.02 GT:AD:DP:GL:GQ 1/1:8,50:47:-189.55,-14.16,-0.01:99 -chr1 5142041 rs12072516 A T 329.01 PASS AC=1;AF=0.50;AN=2;DB;DP=28;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=43.00;MQ0=0;OQ=266.78;QD=9.53;SB=-152.82 GT:AD:DP:GL:GQ 0/1:16,12:25:-37.49,-7.53,-57.93:99 -chr1 5142287 rs9286978 G A 22.41 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=23.68;MQ0=8;OQ=873.11;QD=24.95;SB=-85.33 GT:AD:DP:GL:GQ 1/1:3,32:23:-90.90,-6.93,-0.01:69.22 -chr1 5143205 rs6664086 T C 86.23 PASS AC=2;AF=1.00;AN=2;DB;DP=81;Dels=0.00;HRun=0;HaplotypeScore=3.60;MQ=58.49;MQ0=0;OQ=2734.43;QD=33.76;SB=-1255.67 GT:AD:DP:GL:GQ 1/1:1,80:78:-277.05,-23.49,-0.03:99 -chr1 5144621 rs6603819 C A 635.83 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2574.32;QD=36.78;SB=-1238.13 GT:AD:DP:GL:GQ 1/1:0,70:70:-261.03,-21.08,-0.02:99 -chr1 5146701 rs6669501 C T 700.51 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.28;MQ0=0;OQ=3011.38;QD=38.61;SB=-1500.64 GT:AD:DP:GL:GQ 1/1:0,78:76:-304.75,-22.90,-0.03:99 -chr1 5146942 rs10492930 A G 610.29 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2413.30;QD=30.17;SB=-1138.47 GT:AD:DP:GL:GQ 1/1:0,79:77:-244.99,-23.23,-0.08:99 -chr1 5147215 rs10492931 G A 723.45 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.22;MQ0=0;OQ=2807.87;QD=39.00;SB=-1216.01 GT:AD:DP:GL:GQ 1/1:0,72:71:-284.39,-21.39,-0.02:99 -chr1 5148161 . G A 24.17 PASS AC=1;AF=0.50;AN=2;DP=76;Dels=0.00;HRun=1;HaplotypeScore=1.43;MQ=59.39;MQ0=0;OQ=1450.62;QD=19.09;SB=-417.73 GT:AD:DP:GL:GQ 0/1:33,43:74:-170.64,-22.29,-112.74:99 -chr1 5148401 rs6665697 T C 269.23 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=59.48;MQ0=0;OQ=2231.09;QD=30.99;SB=-952.42 GT:AD:DP:GL:GQ 1/1:0,72:70:-226.75,-21.11,-0.06:99 -chr1 5150357 rs10915375 A G 529.20 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.37;MQ0=0;OQ=1555.45;QD=31.74;SB=-790.64 GT:AD:DP:GL:GQ 1/1:0,49:49:-159.17,-14.78,-0.04:99 -chr1 5150590 . G T 11.56 DPFilter;LowQual AC=1;AF=0.50;AN=2;DP=69;Dels=0.01;HRun=20;HaplotypeScore=36.67;MQ=54.55;MQ0=0;QD=0.17;SB=69.39 GT:AD:DP:GL:GQ 0/1:49,15:42:-26.08,-21.67,-128.29:44.08 -chr1 5150765 rs9439543 T C 624.17 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.33;MQ0=0;OQ=2519.73;QD=35.49;SB=-971.41 GT:AD:DP:GL:GQ 1/1:0,71:70:-255.58,-21.09,-0.03:99 -chr1 5150768 rs9439544 C T 629.96 PASS AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.35;MQ0=0;OQ=2827.18;QD=38.21;SB=-1183.08 GT:AD:DP:GL:GQ 1/1:0,74:71:-286.33,-21.39,-0.02:99 -chr1 5150948 rs11583754 A G 125.55 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=1.95;MQ=56.88;MQ0=0;OQ=1724.72;QD=34.49;SB=-813.67 GT:AD:DP:GL:GQ 1/1:0,50:49:-176.07,-14.76,-0.02:99 -chr1 5153524 rs7536712 T C 117.29 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=1.92;MQ=59.77;MQ0=0;OQ=2818.40;QD=35.23;SB=-1399.67 GT:AD:DP:GL:GQ 1/1:1,78:79:-289.59,-27.33,-4.17:99 -chr1 5155164 rs2722780 G T 611.46 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=2724.16;QD=35.38;SB=-1305.24 GT:AD:DP:GL:GQ 1/1:0,77:77:-276.03,-23.20,-0.03:99 -chr1 5155635 rs2018394 C G 496.66 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.82;MQ0=0;OQ=3565.75;QD=43.48;SB=-1230.53 GT:AD:DP:GL:GQ 1/1:0,82:80:-355.57,-24.10,-0.02:99 -chr1 5156126 rs2679215 G C 570.08 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2670.60;QD=41.73;SB=-1328.91 GT:AD:DP:GL:GQ 1/1:0,64:63:-270.67,-18.98,-0.02:99 -chr1 5156634 rs1320179 T A 161.58 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.72;MQ=59.60;MQ0=0;OQ=1611.01;QD=34.28;SB=-497.40 GT:AD:DP:GL:GQ 1/1:0,47:44:-164.71,-13.26,-0.02:99 -chr1 5157054 . G A 104.21 PASS AC=1;AF=0.50;AN=2;DP=57;Dels=0.00;HRun=1;HaplotypeScore=1.46;MQ=58.03;MQ0=0;OQ=746.35;QD=13.09;SB=-370.87 GT:AD:DP:GL:GQ 0/1:33,24:57:-95.09,-17.17,-121.22:99 -chr1 5157089 rs2722781 C T 248.95 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=58.68;MQ0=0;OQ=2013.78;QD=38.00;SB=-852.01 GT:AD:DP:GL:GQ 1/1:0,53:51:-204.98,-15.36,-0.01:99 -chr1 5158014 rs2679216 A G 582.56 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.03;MQ0=0;OQ=2870.64;QD=35.01;SB=-1392.56 GT:AD:DP:GL:GQ 1/1:0,82:80:-290.67,-24.10,-0.03:99 -chr1 5158416 rs2722782 T C 292.12 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=1.91;MQ=59.74;MQ0=0;OQ=2481.35;QD=34.95;SB=-1226.71 GT:AD:DP:GL:GQ 1/1:0,71:71:-251.75,-21.39,-0.03:99 -chr1 5158842 rs2679217 A C 278.49 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=-0.06;MQ=60.00;MQ0=0;OQ=2099.17;QD=33.86;SB=-765.90 GT:AD:DP:GL:GQ 1/1:0,62:61:-213.53,-18.38,-0.03:99 -chr1 5160232 rs2722783 T C 124.50 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=2.20;MQ=59.02;MQ0=0;OQ=2420.10;QD=34.09;SB=-1200.16 GT:AD:DP:GL:GQ 1/1:1,69:68:-249.06,-23.31,-3.46:99 -chr1 5162761 rs2679218 T C 309.92 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.92;MQ=59.65;MQ0=0;OQ=2240.61;QD=34.47;SB=-957.91 GT:AD:DP:GL:GQ 1/1:0,65:65:-227.67,-19.58,-0.02:99 -chr1 5164088 rs2722786 A G 678.85 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=2134.58;QD=34.99;SB=-757.97 GT:AD:DP:GL:GQ 1/1:0,61:60:-217.06,-18.07,-0.02:99 -chr1 5164377 rs2722787 T C 664.30 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1994.32;QD=31.16;SB=-946.38 GT:AD:DP:GL:GQ 1/1:0,64:63:-203.07,-19.00,-0.06:99 -chr1 5164508 . G A 21.64 PASS AC=1;AF=0.50;AN=2;DP=66;Dels=0.00;HRun=2;HaplotypeScore=1.05;MQ=60.00;MQ0=0;OQ=1023.93;QD=15.51;SB=-404.39 GT:AD:DP:GL:GQ 0/1:35,31:64:-124.97,-19.29,-108.14:99 -chr1 5165252 rs2679219 A G 545.13 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=2430.87;QD=31.16;SB=-1145.16 GT:AD:DP:GL:GQ 1/1:0,78:76:-246.73,-22.91,-0.06:99 -chr1 5165298 rs2722788 C T 111.92 PASS AC=2;AF=1.00;AN=2;DB;DP=87;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.52;MQ0=0;OQ=3387.05;QD=38.93;SB=-1669.69 GT:AD:DP:GL:GQ 1/1:0,87:85:-337.71,-25.61,-0.03:99 -chr1 5166378 rs2722790 C T 150.34 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=2.57;MQ=59.01;MQ0=0;OQ=2739.21;QD=39.13;SB=-1381.68 GT:AD:DP:GL:GQ 1/1:0,70:69:-277.52,-20.79,-0.02:99 -chr1 5170379 . C T 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=83;Dels=0.00;HRun=20;HaplotypeScore=3.49;MQ=51.63;MQ0=1;OQ=52.88;QD=0.64;SB=122.38 GT:AD:DP:GL:GQ 0/1:61,22:64:-27.86,-19.28,-197.27:85.72 -chr1 5172063 rs56164612 G A 177.93 PASS AC=1;AF=0.50;AN=2;DB;DP=50;Dels=0.00;HRun=0;HaplotypeScore=2.36;MQ=59.16;MQ0=0;OQ=776.89;QD=15.54;SB=-274.16 GT:AD:DP:GL:GQ 0/1:24,26:48:-95.43,-14.46,-86.73:99 -chr1 5191577 rs471824 A G 242.55 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.16;MQ0=0;OQ=1721.79;QD=27.77;SB=-749.45 GT:AD:DP:GL:GQ 1/1:1,61:57:-179.88,-17.20,-4.11:99 -chr1 5191739 rs632051 C A 18.10 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=2;HaplotypeScore=4.23;MQ=58.83;MQ0=0;OQ=3137.26;QD=37.35;SB=-891.27 GT:AD:DP:GL:GQ 1/1:0,84:83:-317.33,-25.00,-0.02:99 -chr1 5193545 rs566114 T G 200.45 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=-0.06;MQ=60.00;MQ0=0;OQ=2400.30;QD=34.29;SB=-1100.14 GT:AD:DP:GL:GQ 1/1:0,70:68:-243.64,-20.48,-0.02:99 -chr1 5194097 rs56295354 C T 367.36 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=58.98;MQ0=0;OQ=896.66;QD=14.01;SB=-471.46 GT:AD:DP:GL:GQ 0/1:34,30:62:-111.63,-18.68,-121.51:99 -chr1 5195036 rs677735 A G 310.10 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=59.68;MQ0=0;OQ=2493.12;QD=34.15;SB=-981.71 GT:AD:DP:GL:GQ 1/1:0,73:71:-252.92,-21.39,-0.03:99 -chr1 5195467 rs2986186 T A 311.13 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.45;MQ0=0;OQ=2846.52;QD=37.45;SB=-1332.00 GT:AD:DP:GL:GQ 1/1:0,76:75:-288.25,-22.59,-0.02:99 -chr1 5196704 rs2353169 T C 724.90 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.48;MQ0=0;OQ=2499.39;QD=34.71;SB=-983.95 GT:AD:DP:GL:GQ 1/1:0,72:72:-253.55,-21.69,-0.02:99 -chr1 5197705 rs473104 A G 598.18 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2654.56;QD=34.93;SB=-1319.89 GT:AD:DP:GL:GQ 1/1:0,76:74:-269.06,-22.29,-0.02:99 -chr1 5197747 rs586165 T C 721.60 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2710.69;QD=35.20;SB=-1278.13 GT:AD:DP:GL:GQ 1/1:0,77:76:-274.68,-22.89,-0.03:99 -chr1 5198145 rs584402 C T 717.83 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2714.09;QD=39.33;SB=-1353.02 GT:AD:DP:GL:GQ 1/1:0,69:69:-275.01,-20.79,-0.02:99 -chr1 5198627 rs679712 T A 207.32 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=1.59;MQ=59.36;MQ0=0;OQ=2332.10;QD=35.88;SB=-1044.59 GT:AD:DP:GL:GQ 1/1:0,65:63:-236.81,-18.97,-0.02:99 -chr1 5198919 rs551536 T C 66.98 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=2;HaplotypeScore=0.47;MQ=59.68;MQ0=0;OQ=2254.50;QD=31.75;SB=-1121.22 GT:AD:DP:GL:GQ 1/1:0,71:70:-229.09,-21.11,-0.06:99 -chr1 5198972 rs551376 G A 527.51 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2736.21;QD=38.54;SB=-1372.67 GT:AD:DP:GL:GQ 1/1:0,71:69:-277.22,-20.79,-0.02:99 -chr1 5199041 rs550558 G A 271.08 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=59.75;MQ0=0;OQ=2982.88;QD=39.25;SB=-1518.69 GT:AD:DP:GL:GQ 1/1:0,75:75:-301.89,-22.59,-0.02:99 -chr1 5199083 rs549773 C A 400.22 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2265.19;QD=35.39;SB=-1149.37 GT:AD:DP:GL:GQ 1/1:0,64:63:-230.13,-18.98,-0.02:99 -chr1 5199801 rs663998 C G 667.78 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.24;MQ0=1;OQ=2933.78;QD=41.91;SB=-1382.38 GT:AD:DP:GL:GQ 1/1:0,70:68:-296.98,-20.49,-0.02:99 -chr1 5199984 rs663142 G T 300.03 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.95;MQ=57.88;MQ0=0;OQ=2524.52;QD=34.58;SB=-1263.12 GT:AD:DP:GL:GQ 1/1:0,73:71:-256.06,-21.39,-0.02:99 -chr1 5200020 rs663106 T C 288.64 PASS AC=2;AF=1.00;AN=2;DB;DP=80;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=57.94;MQ0=0;OQ=2324.56;QD=29.06;SB=-1068.20 GT:AD:DP:GL:GQ 1/1:0,80:72:-236.10,-21.71,-0.06:99 -chr1 5201096 rs35339923 C T 25.91 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=2;HaplotypeScore=0.74;MQ=59.27;MQ0=0;OQ=2513.57;QD=39.90;SB=-919.70 GT:AD:DP:GL:GQ 1/1:0,63:63:-254.96,-18.98,-0.02:99 -chr1 5201932 rs611422 T C 369.89 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.65;MQ0=0;OQ=2205.79;QD=33.94;SB=-980.06 GT:AD:DP:GL:GQ 1/1:0,65:62:-224.19,-18.68,-0.02:99 -chr1 5201978 rs534321 A C 83.24 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.68;MQ0=0;OQ=2498.46;QD=34.23;SB=-901.19 GT:AD:DP:GL:GQ 1/1:0,73:73:-253.46,-21.99,-0.03:99 -chr1 5202029 rs534188 C T 644.23 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.84;MQ0=0;OQ=2223.00;QD=39.70;SB=-899.19 GT:AD:DP:GL:GQ 1/1:0,56:56:-225.90,-16.87,-0.02:99 -chr1 5202175 rs12125575 G A 578.75 PASS AC=2;AF=1.00;AN=2;DB;DP=47;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=51.13;MQ0=0;OQ=1740.25;QD=37.03;SB=-800.07 GT:AD:DP:GL:GQ 1/1:0,47:44:-177.62,-13.25,-0.01:99 -chr1 5202200 rs610133 T C 141.51 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=49.73;MQ0=0;OQ=1399.83;QD=30.43;SB=-711.63 GT:AD:DP:GL:GQ 1/1:0,46:41:-143.59,-12.36,-0.02:99 -chr1 5202222 rs511282 G T 609.56 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=50.02;MQ0=0;OQ=2299.71;QD=34.32;SB=-1138.31 GT:AD:DP:GL:GQ 1/1:0,67:64:-233.58,-19.28,-0.02:99 -chr1 5202265 rs599481 G T 595.11 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=49.58;MQ0=0;OQ=2113.87;QD=33.55;SB=-993.43 GT:AD:DP:GL:GQ 1/1:0,63:58:-214.99,-17.47,-0.02:99 -chr1 5202388 rs12066405 A G 127.75 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=51.98;MQ0=0;OQ=2322.85;QD=33.66;SB=-1080.10 GT:AD:DP:GL:GQ 1/1:0,69:65:-235.89,-19.58,-0.02:99 -chr1 5202422 . T G 419.39 Indel AC=1;AF=0.50;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=66.39;MQ=43.53;MQ0=0;QD=7.23;SB=-202.77 GT:AD:DP:GL:GQ 0/1:38,20:51:-60.59,-15.36,-121.07:99 -chr1 5202441 rs12071111 G A 97.09 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=3.61;MQ=40.65;MQ0=0;OQ=1838.51;QD=34.69;SB=-927.74 GT:AD:DP:GL:GQ 1/1:1,52:48:-187.45,-14.46,-0.02:99 -chr1 5202467 rs12067585 T G 27.99 PASS AC=2;AF=1.00;AN=2;DB;DP=35;Dels=0.00;HRun=1;HaplotypeScore=0.10;MQ=52.14;MQ0=0;OQ=1141.50;QD=32.61;SB=-417.26 GT:AD:DP:GL:GQ 1/1:0,35:33:-117.74,-9.94,-0.01:99 -chr1 5202510 rs10915390 T C 6.38 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=0.16;MQ=45.77;MQ0=0;OQ=1492.54;QD=28.70;SB=-582.99 GT:AD:DP:GL:GQ 1/1:0,52:46:-152.88,-13.87,-0.04:99 -chr1 5202536 rs10915391 A G 576.79 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=40.09;MQ0=0;OQ=1719.08;QD=33.06;SB=-769.98 GT:AD:DP:GL:GQ 1/1:0,52:48:-175.51,-14.46,-0.01:99 -chr1 5202563 . A G 1303.98 SnpCluster AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=5.87;MQ=34.10;MQ0=0;QD=25.08;SB=-434.46 GT:AD:DP:GL:GQ 1/1:0,52:39:-134.00,-11.75,-0.02:99 -chr1 5202564 . T C 1560.70 SnpCluster AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;HRun=2;HaplotypeScore=5.87;MQ=34.10;MQ0=0;QD=30.01;SB=-450.83 GT:AD:DP:GL:GQ 1/1:1,51:44:-159.67,-13.26,-0.02:99 -chr1 5202566 . C T 1713.62 SnpCluster AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;HRun=0;HaplotypeScore=2.22;MQ=34.87;MQ0=0;QD=32.95;SB=-454.10 GT:AD:DP:GL:GQ 1/1:0,51:43:-174.96,-12.95,-0.01:99 -chr1 5202576 rs12134110 C T 0.75 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=6.13;MQ=37.89;MQ0=0;OQ=1873.93;QD=33.46;SB=-544.73 GT:AD:DP:GL:GQ 1/1:1,55:47:-190.99,-14.16,-0.01:99 -chr1 5202767 rs2986185 A G 288.60 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=54.20;MQ0=0;OQ=2264.33;QD=34.84;SB=-1153.44 GT:AD:DP:GL:GQ 1/1:0,65:64:-230.04,-19.28,-0.02:99 -chr1 5202796 rs2945617 T C 352.06 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=54.10;MQ0=0;OQ=1791.40;QD=27.99;SB=-839.97 GT:AD:DP:GL:GQ 1/1:0,64:58:-182.79,-17.50,-0.06:99 -chr1 5202844 rs2986184 C G 260.78 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=52.86;MQ0=0;OQ=2380.85;QD=40.35;SB=-1080.09 GT:AD:DP:GL:GQ 1/1:0,59:56:-241.69,-16.88,-0.02:99 -chr1 5202908 . C T 49.09 PASS AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=56.41;MQ0=0;OQ=1679.71;QD=37.33;SB=-834.36 GT:AD:DP:GL:GQ 1/1:0,45:42:-171.56,-12.65,-0.01:99 -chr1 5203231 rs480807 G A 112.83 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=1.65;MQ=59.13;MQ0=0;OQ=2991.96;QD=39.89;SB=-1079.44 GT:AD:DP:GL:GQ 1/1:0,75:75:-302.81,-22.60,-0.03:99 -chr1 5203306 rs6687834 C T 621.90 PASS AC=2;AF=1.00;AN=2;DB;DP=77;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3055.40;QD=39.68;SB=-1315.34 GT:AD:DP:GL:GQ 1/1:0,77:77:-309.15,-23.20,-0.02:99 -chr1 5203354 rs584498 C T 147.71 PASS AC=2;AF=1.00;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.38;MQ0=0;OQ=2983.67;QD=38.25;SB=-1435.37 GT:AD:DP:GL:GQ 1/1:0,78:75:-301.97,-22.59,-0.02:99 -chr1 5203671 rs582779 C A 167.92 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=60.00;MQ0=0;OQ=2146.95;QD=35.78;SB=-804.85 GT:AD:DP:GL:GQ 1/1:0,60:60:-218.30,-18.08,-0.02:99 -chr1 5203886 rs474456 G C 148.15 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=0;HaplotypeScore=3.48;MQ=58.03;MQ0=0;OQ=2254.35;QD=39.55;SB=-1087.49 GT:AD:DP:GL:GQ 1/1:0,57:55:-229.05,-16.59,-0.04:99 -chr1 5203943 rs473685 T C 568.01 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.84;MQ0=0;OQ=1941.75;QD=35.30;SB=-734.93 GT:AD:DP:GL:GQ 1/1:0,55:55:-197.78,-16.57,-0.02:99 -chr1 5204037 rs472768 C A 257.84 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=1.57;MQ=53.49;MQ0=0;OQ=2116.13;QD=35.87;SB=-808.86 GT:AD:DP:GL:GQ 1/1:0,59:58:-215.21,-17.47,-0.01:99 -chr1 5204179 rs561169 C T 180.12 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.48;MQ=59.63;MQ0=0;OQ=1666.79;QD=32.68;SB=-839.97 GT:AD:DP:GL:GQ 1/1:0,51:44:-170.29,-13.26,-0.02:99 -chr1 5204268 rs677650 G C 32.68 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=0.58;MQ=41.36;MQ0=0;OQ=1911.63;QD=39.01;SB=-915.40 GT:AD:DP:GL:GQ 1/1:0,49:46:-194.77,-13.87,-0.02:99 -chr1 5204556 rs676589 T A 738.91 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=54.27;MQ0=0;OQ=2559.35;QD=36.56;SB=-1189.80 GT:AD:DP:GL:GQ 1/1:0,70:69:-259.54,-20.78,-0.02:99 -chr1 5204733 rs675738 T C 27.97 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=2;HaplotypeScore=2.20;MQ=59.17;MQ0=0;OQ=1658.38;QD=29.61;SB=-662.81 GT:AD:DP:GL:GQ 1/1:0,56:52:-169.47,-15.68,-0.05:99 -chr1 5204883 rs9439546 G A 532.03 PASS AC=2;AF=1.00;AN=2;DB;DP=76;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.70;MQ0=0;OQ=2940.91;QD=38.70;SB=-1192.36 GT:AD:DP:GL:GQ 1/1:0,76:75:-297.70,-22.60,-0.03:99 -chr1 5204955 rs674820 A G 79.68 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=1;HaplotypeScore=1.76;MQ=59.62;MQ0=0;OQ=2113.60;QD=34.65;SB=-990.71 GT:AD:DP:GL:GQ 1/1:0,61:60:-214.97,-18.07,-0.02:99 -chr1 5204998 rs674421 C T 11.79 PASS AC=2;AF=1.00;AN=2;DB;DP=57;Dels=0.00;HRun=1;HaplotypeScore=4.18;MQ=59.19;MQ0=0;OQ=2200.64;QD=38.61;SB=-746.99 GT:AD:DP:GL:GQ 1/1:0,57:55:-223.66,-16.57,-0.01:99 -chr1 5205224 rs673451 T G 405.18 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.91;MQ0=0;OQ=1733.87;QD=28.90;SB=-756.83 GT:AD:DP:GL:GQ 1/1:0,60:55:-177.02,-16.58,-0.05:99 -chr1 5206120 rs56397638 C T 43.03 Indel;LowQual AC=1;AF=0.50;AN=2;DB;DP=18;Dels=0.00;HRun=1;HaplotypeScore=3.09;MQ=48.93;MQ0=0;QD=2.39;SB=-0.99 GT:AD:DP:GL:GQ 0/1:15,3:17:-12.71,-5.12,-48.36:75.87 -chr1 5206410 . T C 0.40 PASS AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;HRun=2;HaplotypeScore=1.63;MQ=56.77;MQ0=0;OQ=1364.10;QD=34.98;SB=-316.12 GT:AD:DP:GL:GQ 1/1:0,39:38:-140.01,-11.45,-0.01:99 -chr1 5206681 rs12121640 A C 71.98 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=1.00;MQ=58.51;MQ0=0;OQ=1679.67;QD=32.93;SB=-387.04 GT:AD:DP:GL:GQ 1/1:0,51:47:-171.57,-14.16,-0.01:99 -chr1 5206700 rs12125074 G A 98.48 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.05;MQ=58.12;MQ0=0;OQ=2000.17;QD=37.74;SB=-489.65 GT:AD:DP:GL:GQ 1/1:0,53:50:-203.61,-15.06,-0.01:99 -chr1 5208394 rs7549686 T C 327.06 PASS AC=2;AF=1.00;AN=2;DB;DP=94;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3436.97;QD=36.56;SB=-1599.67 GT:AD:DP:GL:GQ 1/1:0,94:93:-342.70,-28.01,-0.02:99 -chr1 5209527 rs12135834 C T 124.99 PASS AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;HRun=2;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=2736.25;QD=39.66;SB=-1253.04 GT:AD:DP:GL:GQ 1/1:0,69:68:-277.22,-20.48,-0.01:99 -chr1 5209757 rs12128282 G A 708.74 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=2355.65;QD=38.62;SB=-1039.67 GT:AD:DP:GL:GQ 1/1:0,61:59:-239.17,-17.77,-0.02:99 -chr1 5210118 rs4465222 T C 132.90 PASS AC=2;AF=1.00;AN=2;DB;DP=45;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=58.97;MQ0=0;OQ=1268.12;QD=28.18;SB=-489.53 GT:AD:DP:GL:GQ 1/1:0,45:42:-130.45,-12.68,-0.06:99 -chr1 5210152 rs4465223 T C 176.23 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.16;MQ0=0;OQ=1621.75;QD=29.49;SB=-654.28 GT:AD:DP:GL:GQ 1/1:0,55:51:-165.81,-15.38,-0.05:99 -chr1 5210469 rs6686714 G T 712.77 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.59;MQ0=0;OQ=1971.04;QD=35.20;SB=-893.62 GT:AD:DP:GL:GQ 1/1:0,56:56:-200.71,-16.87,-0.02:99 -chr1 5211244 rs6603825 T C 594.56 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=2173.03;QD=35.62;SB=-828.31 GT:AD:DP:GL:GQ 1/1:0,61:60:-220.91,-18.07,-0.02:99 -chr1 5211435 . C T 25.65 PASS AC=1;AF=0.50;AN=2;DP=54;Dels=0.00;HRun=1;HaplotypeScore=2.22;MQ=59.65;MQ0=0;OQ=960.07;QD=17.78;SB=-418.78 GT:AD:DP:GL:GQ 0/1:25,29:53:-115.26,-15.97,-85.03:99 -chr1 5212025 rs4475768 T G 354.90 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.37;MQ0=0;OQ=695.32;QD=14.19;SB=-234.36 GT:AD:DP:GL:GQ 0/1:24,25:49:-87.57,-14.76,-89.97:99 -chr1 5212226 rs494046 T C 148.80 PASS AC=2;AF=1.00;AN=2;DB;DP=93;Dels=0.00;HRun=0;HaplotypeScore=0.79;MQ=60.00;MQ0=0;OQ=2779.20;QD=29.88;SB=-1328.52 GT:AD:DP:GL:GQ 1/1:0,93:88:-281.58,-26.54,-0.08:99 -chr1 5213428 . A G 11.97 PASS AC=1;AF=0.50;AN=2;DP=48;Dels=0.00;HRun=0;HaplotypeScore=3.03;MQ=58.55;MQ0=0;OQ=408.80;QD=8.52;SB=-93.78 GT:AD:DP:GL:GQ 0/1:27,21:44:-57.43,-13.27,-96.36:99 -chr1 5213524 . T A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=55;Dels=0.00;HRun=0;HaplotypeScore=71.93;MQ=50.54;MQ0=0;OQ=502.87;QD=9.14;SB=-189.21 GT:AD:DP:GL:GQ 0/1:37,18:47:-67.73,-14.16,-102.82:99 -chr1 5213770 rs6658152 C T 45.87 PASS AC=2;AF=1.00;AN=2;DB;DP=41;Dels=0.00;HRun=0;HaplotypeScore=0.33;MQ=60.00;MQ0=0;OQ=1572.39;QD=38.35;SB=-554.31 GT:AD:DP:GL:GQ 1/1:0,41:41:-160.84,-12.35,-0.02:99 -chr1 5215271 . A G 38.30 PASS AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;HRun=0;HaplotypeScore=1.20;MQ=59.60;MQ0=0;OQ=1692.08;QD=29.17;SB=-770.59 GT:AD:DP:GL:GQ 1/1:0,57:55:-172.85,-16.59,-0.06:99 -chr1 5217813 . G C 1.18 PASS AC=1;AF=0.50;AN=2;DP=81;Dels=0.00;HRun=0;HaplotypeScore=9.11;MQ=58.35;MQ0=1;OQ=1164.43;QD=14.38;SB=-426.29 GT:AD:DP:GL:GQ 0/1:49,32:77:-142.93,-23.20,-194.98:99 -chr1 5217931 rs4847582 C G 145.68 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.89;MQ=59.66;MQ0=0;OQ=1509.42;QD=22.20;SB=-480.86 GT:AD:DP:GL:GQ 0/1:26,42:66:-174.11,-19.89,-110.01:99 -chr1 5218042 rs4847581 A T 229.68 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.16;MQ=59.31;MQ0=0;OQ=560.70;QD=9.19;SB=-151.08 GT:AD:DP:GL:GQ 0/1:39,22:59:-77.12,-17.77,-150.88:99 -chr1 5218412 rs12089315 C T 695.85 PASS AC=2;AF=1.00;AN=2;DB;DP=66;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2655.40;QD=40.23;SB=-1167.53 GT:AD:DP:GL:GQ 1/1:0,66:65:-269.14,-19.58,-0.01:99 -chr1 5218922 rs55929300 C T 250.89 PASS AC=1;AF=0.50;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=2.25;MQ=58.35;MQ0=0;OQ=749.84;QD=14.42;SB=-372.87 GT:AD:DP:GL:GQ 0/1:29,23:51:-93.64,-15.37,-91.04:99 -chr1 5218923 rs2945619 A G 55.86 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=2.25;MQ=58.42;MQ0=0;OQ=1817.82;QD=33.66;SB=-828.90 GT:AD:DP:GL:GQ 1/1:0,54:53:-185.39,-15.97,-0.03:99 -chr1 5219162 . C T 26.36 PASS AC=1;AF=0.50;AN=2;DP=84;Dels=0.00;HRun=2;HaplotypeScore=0.93;MQ=59.78;MQ0=0;OQ=1260.89;QD=15.01;SB=-475.42 GT:AD:DP:GL:GQ 0/1:46,38:84:-154.67,-25.30,-167.04:99 -chr1 5220394 rs632798 A G 319.28 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=1931.82;QD=32.74;SB=-775.98 GT:AD:DP:GL:GQ 1/1:0,59:54:-196.78,-16.27,-0.02:99 -chr1 5221239 rs11584035 A G 510.42 PASS AC=2;AF=1.00;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2162.59;QD=34.33;SB=-1003.74 GT:AD:DP:GL:GQ 1/1:0,63:61:-219.86,-18.37,-0.02:99 -chr1 5221301 rs11585734 G C 28.93 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=58.47;MQ0=0;OQ=2416.76;QD=43.16;SB=-843.33 GT:AD:DP:GL:GQ 1/1:0,56:55:-245.27,-16.57,-0.01:99 -chr1 5221482 rs34835703 A T 2939.50 Indel AC=2;AF=1.00;AN=2;DB;DP=92;Dels=0.00;HRun=0;HaplotypeScore=3.98;MQ=58.65;MQ0=0;QD=31.95;SB=-1078.25 GT:AD:DP:GL:GQ 1/1:2,89:87:-306.96,-29.45,-9.42:99 -chr1 5221725 . G A 0 FDRtranche2.00to10.00+ AC=1;AF=0.50;AN=2;DP=60;Dels=0.03;HRun=18;HaplotypeScore=39.80;MQ=52.31;MQ0=0;OQ=152.15;QD=2.54;SB=47.14 GT:AD:DP:GL:GQ 0/1:40,18:43:-30.85,-12.35,-114.35:99 -chr1 5222078 rs972257 T A 639.98 PASS AC=2;AF=1.00;AN=2;DB;DP=85;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=56.18;MQ0=0;OQ=3168.88;QD=37.28;SB=-1120.55 GT:AD:DP:GL:GQ 1/1:0,85:85:-320.49,-25.60,-0.02:99 -chr1 5222126 rs972256 A G 626.95 PASS AC=2;AF=1.00;AN=2;DB;DP=75;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.13;MQ0=0;OQ=2639.54;QD=35.19;SB=-1126.78 GT:AD:DP:GL:GQ 1/1:0,75:75:-267.56,-22.59,-0.03:99 -chr1 5224091 rs499416 T C 297.77 PASS AC=2;AF=1.00;AN=2;DB;DP=82;Dels=0.00;HRun=0;HaplotypeScore=1.73;MQ=59.44;MQ0=0;OQ=2957.76;QD=36.07;SB=-1259.50 GT:AD:DP:GL:GQ 1/1:0,82:82:-299.39,-24.70,-0.03:99 -chr1 5224457 rs681122 A G 116.50 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=58.67;MQ0=0;OQ=2663.18;QD=31.70;SB=-1024.35 GT:AD:DP:GL:GQ 1/1:0,84:81:-269.96,-24.42,-0.06:99 -chr1 5224547 rs503246 T C 2.42 PASS AC=2;AF=1.00;AN=2;DB;DP=70;Dels=0.00;HRun=1;HaplotypeScore=6.13;MQ=59.67;MQ0=0;OQ=2425.86;QD=34.66;SB=-1136.77 GT:AD:DP:GL:GQ 1/1:0,69:69:-249.69,-23.90,-3.52:99 -chr1 5224600 rs504015 G A 107.71 PASS AC=2;AF=1.00;AN=2;DB;DP=95;Dels=0.00;HRun=0;HaplotypeScore=1.41;MQ=59.36;MQ0=0;OQ=3623.40;QD=38.14;SB=-1734.33 GT:AD:DP:GL:GQ 1/1:1,94:92:-361.34,-27.72,-0.04:99 -chr1 5225244 rs34916930 A G 210.97 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=2.75;MQ=59.23;MQ0=0;OQ=766.73;QD=12.78;SB=-281.64 GT:AD:DP:GL:GQ 0/1:31,29:57:-97.13,-17.17,-122.94:99 -chr1 5225286 rs1614164 A G 116.44 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=59.11;MQ0=0;OQ=1503.00;QD=28.90;SB=-584.52 GT:AD:DP:GL:GQ 1/1:0,52:49:-153.94,-14.79,-0.06:99 -chr1 5225305 rs531507 T C 127.86 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=1;HaplotypeScore=0.63;MQ=59.05;MQ0=0;OQ=1485.28;QD=30.31;SB=-700.80 GT:AD:DP:GL:GQ 1/1:0,49:47:-152.15,-14.18,-0.04:99 -chr1 5225319 rs531541 G A 341.76 PASS AC=1;AF=0.50;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.47;MQ=59.53;MQ0=0;OQ=776.62;QD=15.85;SB=-311.30 GT:AD:DP:GL:GQ 0/1:25,24:46:-94.81,-13.86,-73.71:99 -chr1 5225584 rs12139398 G T 64.15 PASS AC=1;AF=0.50;AN=2;DB;DP=76;Dels=0.00;HRun=3;HaplotypeScore=2.68;MQ=59.09;MQ0=0;OQ=1255.53;QD=16.52;SB=-636.75 GT:AD:DP:GL:GQ 0/1:35,41:76:-151.73,-22.89,-120.82:99 -chr1 5225784 rs648378 G A 217.93 PASS AC=2;AF=1.00;AN=2;DB;DP=79;Dels=0.00;HRun=1;HaplotypeScore=0.67;MQ=60.00;MQ0=0;OQ=3051.49;QD=38.63;SB=-1366.03 GT:AD:DP:GL:GQ 1/1:0,79:77:-308.76,-23.20,-0.02:99 -chr1 5225910 rs536995 T C 659.19 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2238.13;QD=31.52;SB=-1141.80 GT:AD:DP:GL:GQ 1/1:0,71:69:-227.45,-20.80,-0.05:99 -chr1 5226194 rs646542 C A 53.96 PASS AC=1;AF=0.50;AN=2;DB;DP=48;Dels=0.00;HRun=2;HaplotypeScore=2.51;MQ=59.52;MQ0=0;OQ=616.21;QD=12.84;SB=-186.21 GT:AD:DP:GL:GQ 0/1:25,23:46:-78.77,-13.86,-80.93:99 -chr1 5227007 rs17422703 C T 447.59 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=0.99;MQ=60.00;MQ0=0;OQ=653.00;QD=13.89;SB=-346.50 GT:AD:DP:GL:GQ 0/1:27,20:47:-82.75,-14.17,-88.07:99 -chr1 5227141 rs479689 T C 634.35 PASS AC=2;AF=1.00;AN=2;DB;DP=72;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.68;MQ0=0;OQ=2577.54;QD=35.80;SB=-1149.80 GT:AD:DP:GL:GQ 1/1:0,72:72:-261.36,-21.69,-0.02:99 -chr1 5227198 rs631837 T G 470.17 PASS AC=1;AF=0.50;AN=2;DB;DP=80;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.48;MQ0=0;OQ=1038.21;QD=12.98;SB=-481.28 GT:AD:DP:GL:GQ 0/1:42,38:78:-130.60,-23.49,-142.85:99 -chr1 5227509 rs2945620 A G 463.41 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.71;MQ0=0;OQ=1887.53;QD=34.95;SB=-718.20 GT:AD:DP:GL:GQ 1/1:0,54:53:-192.35,-15.96,-0.02:99 -chr1 5227512 rs2986190 C G 581.25 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.76;MQ0=0;OQ=2178.35;QD=38.90;SB=-696.39 GT:AD:DP:GL:GQ 1/1:0,56:54:-221.45,-16.29,-0.03:99 -chr1 5227592 rs484203 C G 505.04 PASS AC=2;AF=1.00;AN=2;DB;DP=48;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.30;MQ0=0;OQ=1740.53;QD=36.26;SB=-435.04 GT:AD:DP:GL:GQ 1/1:0,48:44:-177.67,-13.27,-0.03:99 -chr1 5227620 rs2945621 C T 184.65 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.15;MQ=58.52;MQ0=0;OQ=2108.36;QD=38.33;SB=-729.97 GT:AD:DP:GL:GQ 1/1:0,54:54:-216.99,-18.70,-2.57:99 -chr1 5228455 rs605572 G A 158.70 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.32;MQ=59.08;MQ0=0;OQ=2364.59;QD=38.76;SB=-1049.40 GT:AD:DP:GL:GQ 1/1:0,61:59:-240.06,-17.77,-0.01:99 -chr1 5228485 rs547366 A G 151.91 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=1.43;MQ=59.32;MQ0=0;OQ=1644.48;QD=29.90;SB=-746.94 GT:AD:DP:GL:GQ 1/1:0,55:53:-168.09,-15.99,-0.05:99 -chr1 5228494 rs547375 T C 432.28 PASS AC=2;AF=1.00;AN=2;DB;DP=40;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.06;MQ0=0;OQ=1148.89;QD=28.72;SB=-518.83 GT:AD:DP:GL:GQ 1/1:0,40:38:-118.51,-11.46,-0.04:99 -chr1 5228675 rs549178 A C 608.96 PASS AC=2;AF=1.00;AN=2;DB;DP=54;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1844.59;QD=34.16;SB=-895.07 GT:AD:DP:GL:GQ 1/1:0,54:53:-188.06,-15.96,-0.02:99 -chr1 5229041 rs552154 A G 144.86 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=2;HaplotypeScore=1.05;MQ=58.33;MQ0=0;OQ=2394.34;QD=35.74;SB=-1030.76 GT:AD:DP:GL:GQ 1/1:0,67:67:-243.04,-20.18,-0.02:99 -chr1 5229075 rs694316 A G 16.95 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=2;HaplotypeScore=2.71;MQ=58.29;MQ0=0;OQ=1696.38;QD=32.62;SB=-808.31 GT:AD:DP:GL:GQ 1/1:0,52:49:-173.25,-14.76,-0.02:99 -chr1 5229079 rs574063 A C 47.22 PASS AC=2;AF=1.00;AN=2;DB;DP=52;Dels=0.00;HRun=1;HaplotypeScore=2.27;MQ=58.29;MQ0=0;OQ=1690.52;QD=32.51;SB=-775.03 GT:AD:DP:GL:GQ 1/1:0,52:50:-172.66,-15.06,-0.02:99 -chr1 5229195 rs2986189 T C 594.24 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1695.13;QD=33.24;SB=-849.99 GT:AD:DP:GL:GQ 1/1:0,50:49:-173.12,-14.76,-0.02:99 -chr1 5229410 rs590229 A G 533.32 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=58.69;MQ0=0;OQ=1626.39;QD=32.53;SB=-702.18 GT:AD:DP:GL:GQ 1/1:0,50:47:-166.24,-14.16,-0.02:99 -chr1 5229454 rs576935 T C 291.30 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.64;MQ0=0;OQ=2227.88;QD=34.81;SB=-1091.09 GT:AD:DP:GL:GQ 1/1:0,64:63:-226.40,-18.98,-0.03:99 -chr1 5229643 rs589314 C T 702.68 PASS AC=2;AF=1.00;AN=2;DB;DP=84;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=3349.31;QD=39.87;SB=-1157.05 GT:AD:DP:GL:GQ 1/1:0,84:83:-333.93,-25.00,-0.02:99 -chr1 5229725 rs579467 T C 242.79 PASS AC=2;AF=1.00;AN=2;DB;DP=53;Dels=0.00;HRun=0;HaplotypeScore=1.46;MQ=59.13;MQ0=0;OQ=1575.01;QD=29.72;SB=-809.29 GT:AD:DP:GL:GQ 1/1:0,53:51:-161.14,-15.39,-0.05:99 -chr1 5229840 rs580404 G A 618.34 PASS AC=2;AF=1.00;AN=2;DB;DP=73;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.49;MQ0=0;OQ=2841.67;QD=38.93;SB=-1151.68 GT:AD:DP:GL:GQ 1/1:0,73:73:-287.78,-22.00,-0.03:99 -chr1 5229963 rs587619 A G 627.90 PASS AC=2;AF=1.00;AN=2;DB;DP=49;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.05;MQ0=0;OQ=1527.65;QD=31.18;SB=-661.80 GT:AD:DP:GL:GQ 1/1:0,49:48:-156.40,-14.48,-0.05:99 -chr1 5230068 rs684796 A G 654.33 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1910.04;QD=31.31;SB=-776.75 GT:AD:DP:GL:GQ 1/1:0,61:59:-194.63,-17.79,-0.04:99 -chr1 5230099 rs493993 T C 52.25 PASS AC=2;AF=1.00;AN=2;DB;DP=51;Dels=0.00;HRun=1;HaplotypeScore=2.40;MQ=60.00;MQ0=0;OQ=1531.39;QD=30.03;SB=-555.88 GT:AD:DP:GL:GQ 1/1:0,51:49:-156.77,-14.78,-0.05:99 -chr1 5230146 rs494138 C T 565.44 PASS AC=2;AF=1.00;AN=2;DB;DP=50;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1901.52;QD=38.03;SB=-812.08 GT:AD:DP:GL:GQ 1/1:0,50:49:-193.76,-14.77,-0.02:99 -chr1 5230400 rs683361 C T 576.16 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.64;MQ0=0;OQ=2445.96;QD=38.22;SB=-885.63 GT:AD:DP:GL:GQ 1/1:0,64:64:-248.21,-19.29,-0.03:99 -chr1 5230419 rs683326 A C 444.54 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.64;MQ0=0;OQ=2097.81;QD=32.78;SB=-733.04 GT:AD:DP:GL:GQ 1/1:0,64:59:-213.39,-17.77,-0.02:99 -chr1 5230522 rs497780 C T 280.11 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.26;MQ=59.44;MQ0=0;OQ=2456.36;QD=36.66;SB=-1135.53 GT:AD:DP:GL:GQ 1/1:0,66:64:-249.25,-19.29,-0.03:99 -chr1 5230617 rs682425 A C 128.19 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=1.82;MQ=60.00;MQ0=0;OQ=2329.64;QD=34.26;SB=-803.08 GT:AD:DP:GL:GQ 1/1:1,67:66:-236.57,-19.88,-0.02:99 -chr1 5230727 rs499639 G A 152.07 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=1.94;MQ=59.28;MQ0=0;OQ=1710.74;QD=26.73;SB=-582.87 GT:AD:DP:GL:GQ 1/1:0,37:64:-256.74,-99.73,-82.08:99 -chr1 5230993 rs17423021 C T 275.08 PASS AC=1;AF=0.50;AN=2;DB;DP=47;Dels=0.00;HRun=0;HaplotypeScore=1.66;MQ=60.00;MQ0=0;OQ=870.39;QD=18.52;SB=-403.16 GT:AD:DP:GL:GQ 0/1:21,26:47:-104.48,-14.16,-73.19:99 -chr1 5231281 rs695100 T C 614.40 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=1962.66;QD=33.84;SB=-961.65 GT:AD:DP:GL:GQ 1/1:0,58:57:-199.88,-17.17,-0.03:99 -chr1 5231434 rs2860250 T G 608.99 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=1940.74;QD=34.66;SB=-919.09 GT:AD:DP:GL:GQ 1/1:0,56:55:-197.68,-16.57,-0.02:99 -chr1 5231440 rs2353173 G T 713.73 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2174.12;QD=33.45;SB=-1013.52 GT:AD:DP:GL:GQ 1/1:0,65:62:-221.02,-18.68,-0.02:99 -chr1 5231533 rs4290073 G A 106.58 PASS AC=1;AF=0.50;AN=2;DB;DP=81;Dels=0.00;HRun=3;HaplotypeScore=0.16;MQ=59.20;MQ0=0;OQ=1041.27;QD=12.86;SB=-342.41 GT:AD:DP:GL:GQ 0/1:49,32:81:-131.81,-24.39,-179.39:99 -chr1 5231729 rs2945622 G A 619.13 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.61;MQ0=0;OQ=2286.02;QD=38.75;SB=-1132.51 GT:AD:DP:GL:GQ 1/1:0,59:57:-232.20,-17.17,-0.01:99 -chr1 5231775 rs4633300 T C 80.14 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=2.27;MQ=58.86;MQ0=0;OQ=2147.74;QD=35.21;SB=-1067.79 GT:AD:DP:GL:GQ 1/1:0,61:61:-218.38,-18.38,-0.02:99 -chr1 5231808 rs10799186 T C 608.79 PASS AC=2;AF=1.00;AN=2;DB;DP=62;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.88;MQ0=0;OQ=2059.90;QD=33.22;SB=-1027.00 GT:AD:DP:GL:GQ 1/1:0,62:60:-209.61,-18.08,-0.04:99 -chr1 5231809 rs10799187 G C 596.93 PASS AC=2;AF=1.00;AN=2;DB;DP=64;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=58.91;MQ0=0;OQ=2598.74;QD=40.61;SB=-1318.71 GT:AD:DP:GL:GQ 1/1:0,64:61:-263.48,-18.38,-0.02:99 -chr1 5231833 rs530731 G C 494.40 PASS AC=2;AF=1.00;AN=2;DB;DP=58;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.60;MQ0=0;OQ=2447.16;QD=42.19;SB=-1018.28 GT:AD:DP:GL:GQ 1/1:0,58:58:-248.32,-17.48,-0.02:99 -chr1 5231988 rs614111 C A 590.46 PASS AC=2;AF=1.00;AN=2;DB;DP=55;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.58;MQ0=0;OQ=1949.76;QD=35.45;SB=-809.87 GT:AD:DP:GL:GQ 1/1:0,55:54:-198.57,-16.26,-0.01:99 -chr1 5231995 rs614102 A G 590.99 PASS AC=2;AF=1.00;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.61;MQ0=0;OQ=2129.07;QD=36.09;SB=-828.32 GT:AD:DP:GL:GQ 1/1:0,59:59:-216.51,-17.77,-0.02:99 -chr1 5232537 rs558175 T A 537.54 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2470.42;QD=36.33;SB=-1158.53 GT:AD:DP:GL:GQ 1/1:0,68:67:-250.65,-20.18,-0.02:99 -chr1 5232779 rs560794 T A 637.12 PASS AC=2;AF=1.00;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.66;MQ0=0;OQ=2459.58;QD=36.17;SB=-1165.07 GT:AD:DP:GL:GQ 1/1:0,68:66:-249.56,-19.88,-0.02:99 -chr1 5232782 rs600322 G A 160.84 PASS AC=2;AF=1.00;AN=2;DB;DP=65;Dels=0.00;HRun=1;HaplotypeScore=0.16;MQ=59.65;MQ0=0;OQ=2495.29;QD=38.39;SB=-1228.15 GT:AD:DP:GL:GQ 1/1:0,65:64:-253.13,-19.28,-0.02:99 -chr1 5232864 rs599884 A G 212.34 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.98;MQ=59.42;MQ0=0;OQ=2139.99;QD=35.08;SB=-951.99 GT:AD:DP:GL:GQ 1/1:0,61:60:-217.60,-18.07,-0.02:99 -chr1 5233339 rs598031 G A 300.26 PASS AC=2;AF=1.00;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=0.87;MQ=59.38;MQ0=0;OQ=2603.20;QD=38.85;SB=-1265.68 GT:AD:DP:GL:GQ 1/1:0,66:66:-263.92,-19.88,-0.02:99 -chr1 5233376 rs587228 C T 292.53 PASS AC=2;AF=1.00;AN=2;DB;DP=60;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=58.99;MQ0=0;OQ=2392.78;QD=39.88;SB=-1196.59 GT:AD:DP:GL:GQ 1/1:0,60:60:-242.88,-18.07,-0.02:99 -chr1 5233377 rs476866 A G 630.33 PASS AC=2;AF=1.00;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=59.01;MQ0=0;OQ=2129.35;QD=34.91;SB=-1082.46 GT:AD:DP:GL:GQ 1/1:0,61:60:-216.54,-18.07,-0.02:99 -chr1 5233422 rs476993 T C 95.16 PASS AC=2;AF=1.00;AN=2;DB;DP=56;Dels=0.00;HRun=1;HaplotypeScore=0.89;MQ=58.92;MQ0=0;OQ=1891.61;QD=33.78;SB=-702.84 GT:AD:DP:GL:GQ 1/1:1,55:55:-192.78,-16.58,-0.03:99 -chr1 5233779 rs56260836 C T 250.27 PASS AC=1;AF=0.50;AN=2;DB;DP=60;Dels=0.00;HRun=0;HaplotypeScore=1.97;MQ=59.69;MQ0=0;OQ=907.86;QD=15.13;SB=-369.08 GT:AD:DP:GL:GQ 0/1:31,29:57:-111.25,-17.18,-100.79:99 -chr1 5234072 rs504647 G A 600.46 PASS AC=2;AF=1.00;AN=2;DB;DP=71;Dels=0.00;HRun=0;HaplotypeScore=0.00;MQ=60.00;MQ0=0;OQ=2853.54;QD=40.19;SB=-1415.37 GT:AD:DP:GL:GQ 1/1:0,71:71:-288.96,-21.39,-0.02:99 -chr1 5234128 rs7551166 T C 37.81 PASS AC=1;AF=0.50;AN=2;DB;DP=63;Dels=0.00;HRun=1;HaplotypeScore=4.51;MQ=60.00;MQ0=0;OQ=837.05;QD=13.29;SB=-326.85 GT:AD:DP:GL:GQ 0/1:34,29:63:-105.96,-18.97,-138.54:99 -chr1 5234274 rs583170 C A 510.70 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.00;MQ=59.64;MQ0=0;OQ=1124.36;QD=17.57;SB=-381.75 GT:AD:DP:GL:GQ 0/1:28,36:64:-134.99,-19.28,-100.59:99 -chr1 5234483 rs12746195 G T 448 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=1.30;MQ=60.00;MQ0=0;OQ=907.18;QD=14.87;SB=-443.17 GT:AD:DP:GL:GQ 0/1:30,31:60:-112.07,-18.07,-106.20:99 -chr1 5234497 rs12732868 T G 365.79 PASS AC=1;AF=0.50;AN=2;DB;DP=64;Dels=0.00;HRun=1;HaplotypeScore=0.80;MQ=60.00;MQ0=0;OQ=834.65;QD=13.04;SB=-431.76 GT:AD:DP:GL:GQ 0/1:33,31:62:-105.43,-18.68,-118.96:99 -chr1 5234595 rs12747559 C T 411.30 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=0;HaplotypeScore=1.47;MQ=59.66;MQ0=0;OQ=1103.55;QD=16.23;SB=-461.98 GT:AD:DP:GL:GQ 0/1:32,36:64:-132.93,-19.29,-98.65:99 -chr1 5234628 rs12746515 G A 395.10 PASS AC=1;AF=0.50;AN=2;DB;DP=78;Dels=0.00;HRun=0;HaplotypeScore=0.97;MQ=59.70;MQ0=0;OQ=1407.50;QD=18.04;SB=-722.08 GT:AD:DP:GL:GQ 0/1:37,41:75:-166.64,-22.60,-112.02:99 -chr1 5234751 rs12747870 C T 314.20 PASS AC=1;AF=0.50;AN=2;DB;DP=68;Dels=0.00;HRun=1;HaplotypeScore=2.20;MQ=59.17;MQ0=0;OQ=991.08;QD=14.57;SB=-434.89 GT:AD:DP:GL:GQ 0/1:38,30:67:-122.57,-20.18,-136.08:99 -chr1 5234796 rs12729227 A T 285.02 PASS AC=1;AF=0.50;AN=2;DB;DP=67;Dels=0.00;HRun=0;HaplotypeScore=1.60;MQ=58.68;MQ0=0;OQ=635.81;QD=9.49;SB=-240.21 GT:AD:DP:GL:GQ 0/1:44,23:66:-86.75,-19.88,-161.14:99 -chr1 5234855 rs12746867 G A 137.48 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=3;HaplotypeScore=0.48;MQ=58.86;MQ0=0;OQ=803.94;QD=13.18;SB=-392.38 GT:AD:DP:GL:GQ 0/1:35,26:59:-101.45,-17.77,-122.51:99 -chr1 5234867 rs12729373 A G 399.72 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=2;HaplotypeScore=0.00;MQ=59.62;MQ0=0;OQ=739.47;QD=12.12;SB=-312.22 GT:AD:DP:GL:GQ 0/1:35,26:61:-95.60,-18.37,-142.14:99 -chr1 5235030 rs55729623 C G 87.40 PASS AC=1;AF=0.50;AN=2;DB;DP=59;Dels=0.00;HRun=0;HaplotypeScore=4.84;MQ=59.98;MQ0=0;OQ=961.43;QD=16.30;SB=-383.64 GT:AD:DP:GL:GQ 0/1:26,33:53:-115.42,-16.00,-99.45:99 -chr1 5235034 . G A 5.72 PASS AC=1;AF=0.50;AN=2;DP=62;Dels=0.00;HRun=0;HaplotypeScore=5.25;MQ=59.98;MQ0=0;OQ=618.09;QD=9.97;SB=-190.00 GT:AD:DP:GL:GQ 0/1:34,27:51:-82.91,-17.82,-96.99:99 -chr1 5235136 rs17457156 T C 138.33 PASS AC=1;AF=0.50;AN=2;DB;DP=61;Dels=0.00;HRun=0;HaplotypeScore=3.41;MQ=59.24;MQ0=0;OQ=556.94;QD=9.13;SB=-82.80 GT:AD:DP:GL:GQ 0/1:34,26:58:-79.46,-20.48,-139.05:99 diff --git a/public/testdata/HiSeq.10000.vcf.gz b/public/testdata/HiSeq.10000.vcf.gz deleted file mode 100644 index 15e91010c..000000000 Binary files a/public/testdata/HiSeq.10000.vcf.gz and /dev/null differ diff --git a/public/testdata/TabularDataTest.dat b/public/testdata/TabularDataTest.dat deleted file mode 100755 index 99264a087..000000000 --- a/public/testdata/TabularDataTest.dat +++ /dev/null @@ -1,7 +0,0 @@ -# comment -# comment line -# -HEADER COL1 COL2 COL3 -chrM:10 A B C -chrM:20 C D E -chrM:30 F G H \ No newline at end of file diff --git a/public/testdata/TabularDataTest2.dat b/public/testdata/TabularDataTest2.dat deleted file mode 100755 index ac548ccf8..000000000 --- a/public/testdata/TabularDataTest2.dat +++ /dev/null @@ -1,7 +0,0 @@ -# comment -# comment line -# -HEADER,COL1,COL2,COL3,COL4 -chrM:10,A,B,C,1 -chrM:20,C,D,E,2 -chrM:30,F,G,H,3 \ No newline at end of file diff --git a/public/testdata/ValidatingPileupTargets.list b/public/testdata/ValidatingPileupTargets.list deleted file mode 100755 index 8cf777f2a..000000000 --- a/public/testdata/ValidatingPileupTargets.list +++ /dev/null @@ -1,29 +0,0 @@ -# e.coli -/humgen/gsa-scr1/GATK_Data/Validation_Data/MV1994.bam /humgen/gsa-scr1/GATK_Data/Validation_Data/Escherichia_coli_K12_MG1655.fasta * - -# daughter chrom 6 deep coverage first 10 MB -/humgen/gsa-scr1/GATK_Data/Validation_Data/NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam /broad/1KG/reference/human_b36_both.fasta 1:10,500,000-11,000,000 - -# daughter chrom 1 deep coverage -/broad/1KG/DCC/ftp/pilot_data/NA12878/alignment/NA12878.chrom1.SLX.SRP000032.2009_06.bam /broad/1KG/reference/human_b36_both.fasta * - -# mother of trio individual low coverage -/broad/1KG/DCC/ftp/pilot_data/NA12892/alignment/NA12892.SLX.SRP000031.2009_06.bam /broad/1KG/reference/human_b36_both.fasta * - -# Pilot 3 -/broad/1KG/pilot3/sams/NA12892.bam /seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta * - -# anthony PCR lane -# samtools import /seq/references/Homo_sapiens_assembly17/v0/Homo_sapiens_assembly17.bam.ref_list /seq/dirseq/aphilipp/combo/sequences/pcr/samfiles/10035.5.clean.sam 10035.5.clean.bam -/humgen/gsa-scr1/GATK_Data/Validation_Data/10035.5.clean.bam /humgen/gsa-scr1/GATK_Data/Validation_Data/Homo_sapiens_assembly17.fasta * - -# anthony HS lane -# samtools import /seq/references/Homo_sapiens_assembly17/v0/Homo_sapiens_assembly17.bam.ref_list /seq/dirseq/aphilipp/combo/sequences/hs/samfiles/30CLA.5.clean.sam 30CLA.5.clean.bam -/humgen/gsa-scr1/GATK_Data/Validation_Data/30CLA.5.clean.bam /humgen/gsa-scr1/GATK_Data/Validation_Data/Homo_sapiens_assembly17.fasta * - -# whole exom interval-based analysis for cancer -/humgen/gsa-scr1/GATK_Data/Validation_Data/TCGA-06-0188.aligned.duplicates_marked.bam /seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta /humgen/gsa-scr1/GATK_Data/Validation_Data/TCGA-06-0188.interval_list - -# WGS tumor -- figure it out -#/broad/1KG/pilot3/sams/NA12892.bam /seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta * - diff --git a/public/testdata/ac0.vcf b/public/testdata/ac0.vcf deleted file mode 100644 index 0f50d7a72..000000000 --- a/public/testdata/ac0.vcf +++ /dev/null @@ -1,116 +0,0 @@ -##fileformat=VCFv4.1 -##ALT= -##FORMAT= -##FORMAT= -##FORMAT= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##SelectVariants="analysis_type=SelectVariants input_file=[] read_buffer_size=null phone_home=STANDARD gatk_key=null read_filter=[] intervals=[20:81006] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL reference_sequence=/humgen/gsa-hpprojects/GATK/bundle/current/b37/human_g1k_v37.fasta rodBind=[] nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=1 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false logging_level=INFO log_to_file=null help=false variant=(RodBinding name=variant source=/humgen/1kg/releases/main_project_phaseI/ALL.chr20.phase1_release_v3.20101123.snps_indels_svs.genotypes.vcf.gz) discordance=(RodBinding name= source=UNBOUND) concordance=(RodBinding name= source=UNBOUND) out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sample_name=[] sample_expressions=null sample_file=null exclude_sample_name=[] exclude_sample_file=[] select_expressions=[] excludeNonVariants=false excludeFiltered=false restrictAllelesTo=ALL keepOriginalAC=false mendelianViolation=false mendelianViolationQualThreshold=0.0 select_random_number=0 select_random_fraction=0.0 remove_fraction_genotypes=0.0 selectTypeToInclude=[] keepIDs=null outMVFile=null filter_mismatching_base_and_quals=false" -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= -##contig= 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0|0:0.000:-0.11,-0.66,-4.00 0|0:0.000:-0.06,-0.90,-5.00 0|0:0.000:-0.29,-0.40,-1.06 0|0:0.000:-0.00,-2.00,-5.00 0|0:0.000:-0.0337268,-1.12656,-5 0|0:0.000:-0.02,-1.47,-5.00 0|0:0.000:-0.10,-0.67,-3.92 0|0:0.000:-0.18,-0.47,-2.47 0|0:0.000:-0.18,-0.47,-2.86 diff --git a/public/testdata/breakpoint-example.vcf b/public/testdata/breakpoint-example.vcf deleted file mode 100644 index f015e1721..000000000 --- a/public/testdata/breakpoint-example.vcf +++ /dev/null @@ -1,6 +0,0 @@ -##fileformat=VCFv4.1 -#CHROM POS ID REF ALT QUAL FILTER INFO -22 50 bnd_W G G]22:6000] 6 PASS SVTYPE=BND;MATEID=bnd_Y -22 51 bnd_V T ]22:55]T 6 PASS SVTYPE=BND;MATEID=bnd_U -22 55 bnd_U C C[22:51[ 6 PASS SVTYPE=BND;MATEID=bnd_V -22 6000 bnd_Y A A]22:50] 6 PASS SVTYPE=BND;MATEID=bnd_W \ No newline at end of file diff --git a/public/testdata/ceutrio.ped b/public/testdata/ceutrio.ped deleted file mode 100644 index 1302e1a2d..000000000 --- a/public/testdata/ceutrio.ped +++ /dev/null @@ -1,3 +0,0 @@ -fam1 kid dad mom 1 2 -fam1 dad 0 0 1 1 -fam1 mom 0 0 2 2 diff --git a/public/testdata/defaultGATKConfig.cfg b/public/testdata/defaultGATKConfig.cfg deleted file mode 100755 index 9f87170ed..000000000 --- a/public/testdata/defaultGATKConfig.cfg +++ /dev/null @@ -1,26 +0,0 @@ -[DEFAULT] -jar: ~/dev/GenomeAnalysisTK/trunk/dist/GenomeAnalysisTK.jar -referenceRoot: /home/radon01/depristo/work/humanref/Homo_sapiens_assembly18 -reference: %(referenceRoot)s.fasta -referenceIndex: %(reference)s.fai -referenceDict: %(referenceRoot)s.dict -java: java -jvm_args: -ea -Xmx2048m -gatkData: /humgen/gsa-scr1/GATK_Data -dbsnp: %(gatkData)s/dbsnp_129_hg18.rod -tmp: /tmp/ -args: -l INFO -Sting: ~/dev/GenomeAnalysisTK/trunk -#args: -l INFO -L chr1:1-1,000,000 - -[CountCovariates] -args: --MIN_MAPPING_QUALITY 1 -D %(dbsnp)s - -[TableRecalibration] -args: -compress 1 - -[R] -Rscript: /broad/tools/apps/R-2.6.0/bin/Rscript -PlotQEmpStated: %(Sting)s/R/plot_q_emp_stated_hst.R -PlotQDiffByCycle: %(Sting)s/R/plot_qual_diff_v_cycle.R -PlotQDiffByDinuc: %(Sting)s/R/plot_qual_diff_v_dinuc.R diff --git a/public/testdata/diffTestMaster.vcf b/public/testdata/diffTestMaster.vcf deleted file mode 100644 index 549f54345..000000000 --- a/public/testdata/diffTestMaster.vcf +++ /dev/null @@ -1,11 +0,0 @@ -##fileformat=VCFv4.0 -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 -chr1 2646 rs62635284 G A 0.15 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:53,75:3:-12.40,-0.90,-0.00:9.03 -chr1 2979 rs62635286 T G 83.67 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:31,32:9:-33.61,-2.71,-0.00:27.09 -chr1 2981 rs62028691 A G 14.69 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:31,33:9:-32.12,-2.71,-0.00:27.08 -chr1 4536 rs11582131 G C 0.18 PASS AC=1;AF=0.50;AN=2 GT:AD:DP:GL:GQ 0/1:42,33:16:-41.67,-4.82,-26.29:99 -chr1 4562 rs11490464 C G 0.14 PASS AC=1;AF=0.50;AN=2 GT:AD:DP:GL:GQ 0/1:26,30:9:-19.64,-2.72,-14.87:99 -chr1 4770 rs6682375 A G 0.32 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:9,111:84:-306.27,-28.58,-3.46:99 -chr1 4793 rs6682385 A G 0.15 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:4,115:109:-350.74,-32.88,-0.10:99 -chr1 5074 rs11586607 T G 0.01 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:29,97:39:-130.41,-11.75,-3.82:79.31 -chr1 5137 rs62636497 A T 140.49 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:0,74:39:-148.99,-11.75,-0.01:99 diff --git a/public/testdata/diffTestTest.vcf b/public/testdata/diffTestTest.vcf deleted file mode 100644 index 8699ab253..000000000 --- a/public/testdata/diffTestTest.vcf +++ /dev/null @@ -1,11 +0,0 @@ -##fileformat=VCFv4.0 -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 -chr1 2646 rs62635284 G A 0.15 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:53,75:3:-12.40,-0.90,-0.00:9.03 -chr1 2979 rs62635286 T G 83.67 CHANGED_FILTER AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:31,32:9:-33.61,-2.71,-0.00:27.09 -chr1 2981 rs62028691 A G 14.69 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:31,33:9:-32.12,-2.71,-0.00:27.08 -chr1 4536 rs11582131 G C 0.18 PASS AC=2;AF=0.50;AN=2 GT:AD:DP:GL:GQ 0/1:42,33:16:-41.67,-4.82,-26.29:99 -chr1 4562 rs11490464 C G 0.14 PASS AC=1;AF=0.50;AN=2 GT:AD:DP:GL:GQ 1/1:26,30:9:-19.64,-2.72,-14.87:99 -chr1 4770 rs6682375 A G 0.32 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 0/1:9,111:84:-306.27,-28.58,-3.46:99 -chr1 4793 rs6682385 A G 0.15 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:4,114:109:-350.74,-32.88,-0.10:99 -chr1 5074 rs11586607 T G 0.01 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:29,97:39:-130.41,-11.74,-3.82:79.31 -chr1 5137 rs62636497 A T 140.49 PASS AC=2;AF=1.00;AN=2 GT:AD:DP:GL:GQ 1/1:0,74:39:-148.99,-11.75,-0.01:9 diff --git a/public/testdata/exampleFASTA-3contigs.fasta b/public/testdata/exampleFASTA-3contigs.fasta new file mode 100644 index 000000000..cc31f3834 --- /dev/null +++ b/public/testdata/exampleFASTA-3contigs.fasta @@ -0,0 +1,24 @@ +>chr1 +AAAAA +AAAAA +AAAAA +AA + + +>chr2 +BBBBBBB +BBBBBBB +BBBBBBB + +>chr3 +CCCCCCCCCC +CCCCCCCCCC +CCCCCCCCCC +CCCCCCCCCC +CCCCCCCCCC +CCCCCCCCCC +CCCCCCCCCC +CCCCCCCCCC +CCCCCCCCCC +CCCCCCCCCC + diff --git a/public/testdata/exampleFASTA-combined.fasta b/public/testdata/exampleFASTA-combined.fasta new file mode 100644 index 000000000..4bfa409d9 --- /dev/null +++ b/public/testdata/exampleFASTA-combined.fasta @@ -0,0 +1,1675 @@ +>chr1 +taaccctaaccctaaccctaaccctaaccctaaccctaaccctaaccctaaccctaaccc +taaccctaaccctaaccctaaccctaaccctaaccctaaccctaacccaaccctaaccct +aaccctaaccctaaccctaaccctaacccctaaccctaaccctaaccctaaccctaacct +aaccctaaccctaaccctaaccctaaccctaaccctaaccctaaccctaacccctaaccc +taaccctaaaccctaaaccctaaccctaaccctaaccctaaccctaaccccaaccccaac +cccaaccccaaccccaaccccaaccctaacccctaaccctaaccctaaccctaccctaac +cctaaccctaaccctaaccctaaccctaacccctaacccctaaccctaaccctaacccta +accctaaccctaaccctaacccctaaccctaaccctaaccctaaccctcgcggtaccctc +agccggcccgcccgcccgggtctgacctgaggagaactgtgctccgccttcagagtacca +ccgaaatctgtgcagaggacaacgcagctccgccctcgcggtgctctccgggtctgtgct +gaggagaacgcaactccgccggcgcaggcgcagagaggcgcgccgcgccggcgcaggcgc +agacacatgctagcgcgtcggggtggaggcgtggcgcaggcgcagagaggcgcgccgcgc +cggcgcaggcgcagagacacatgctaccgcgtccaggggtggaggcgtggcgcaggcgca +gagaggcgcaccgcgccggcgcaggcgcagagacacatgctagcgcgtccaggggtggag +gcgtggcgcaggcgcagagacgcaagcctacgggcgggggttgggggggcgtgtgttgca +ggagcaaagtcgcacggcgccgggctggggcggggggagggtggcgccgtgcacgcgcag +aaactcacgtcacggtggcgcggcgcagagacgggtagaacctcagtaatccgaaaagcc +gggatcgaccgccccttgcttgcagccgggcactacaggacccgcttgctcacggtgctg +tgccagggcgccccctgctggcgactagggcaactgcagggctctcttgcttagagtggt +ggccagcgccccctgctggcgccggggcactgcagggccctcttgcttactgtatagtgg +tggcacgccgcctgctggcagctagggacattgcagggtcctcttgctcaaggtgtagtg +gcagcacgcccacctgctggcagctggggacactgccgggccctcttgctCCAACAGTAC +TGGCGGATTATAGGGAAACACCCGGAGcatatgctgtttggtctcagtagactcctaaat +atgggattcctgggtttaaaagtaaaaaataaatatgtttaatttgtgaactgattacca +tcagaattgtactgttctgtatcccaccagcaatgtctaggaatgcctgtttctccacaa +agtgtttacttttggatttttgccagtctaacaggtgaAGccctggagattcttattagt +gatttgggctggggcctggccatgtgtatttttttaaatttccactgatgattttgctgc +atggccggtgttgagaatgactgCGCAAATTTGCCGGATTTCCTTTGCTGTTCCTGCATG +TAGTTTAAACGAGATTGCCAGCACCGGGTATCATTCACCATTTTTCTTTTCGTTAACTTG +CCGTCAGCCTTTTCTTTGACCTCTTCTTTCTGTTCATGTGTATTTGCTGTCTCTTAGCCC +AGACTTCCCGTGTCCTTTCCACCGGGCCTTTGAGAGGTCACAGGGTCTTGATGCTGTGGT +CTTCATCTGCAGGTGTCTGACTTCCAGCAACTGCTGGCCTGTGCCAGGGTGCAAGCTGAG +CACTGGAGTGGAGTTTTCCTGTGGAGAGGAGCCATGCCTAGAGTGGGATGGGCCATTGTT +CATCTTCTGGCCCCTGTTGTCTGCATGTAACTTAATACCACAACCAGGCATAGGGGAAAG +ATTGGAGGAAAGATGAGTGAGAGCATCAACTTCTCTCACAACCTAGGCCAGTAAGTAGTG +CTTGTGCTCATCTCCTTGGCTGTGATACGTGGCCGGCCCTCGCTCCAGCAGCTGGACCCC +TACCTGCCGTCTGCTGCCATCGGAGCCCAAAGCCGGGCTGTGACTGCTCAGACCAGCCGG +CTGGAGGGAGGGGCTCAGCAGGTCTGGCTTTGGCCCTGGGAGAGCAGGTGGAAGATCAGG +CAGGCCATCGCTGCCACAGAACCCAGTGGATTGGCCTAGGTGGGATCTCTGAGCTCAACA +AGCCCTCTCTGGGTGGTAGGTGCAGAGACGGGAGGGGCAGAGCCGCAGGCACAGCCAAGA +GGGCTGAAGAAATGGTAGAACGGAGCAGCTGGTGATGTGTGGGCCCACCGGCCCCAGGCT +CCTGTCTCCCCCCAGGTGTGTGGTGATGCCAGGCATGCCCTTCCCCAGCATCAGGTCTCC +AGAGCTGCAGAAGACGACGGCCGACTTGGATCACACTCTTGTGAGTGTCCCCAGTGTTGC +AGAGGTGAGAGGAGAGTAGACAGTGAGTGGGAGTGGCGTCGCCCCTAGGGCTCTACGGGG +CCGGCGTCTCCTGTCTCCTGGAGAGGCTTCGATGCCCCTCCACACCCTCTTGATCTTCCC +TGTGATGTCATCTGGAGCCCTGCTGCTTGCGGTGGCCTATAAAGCCTCCTAGTCTGGCTC +CAAGGCCTGGCAGAGTCTTTCCCAGGGAAAGCTACAAGCAGCAAACAGTCTGCATGGGTC +ATCCCCTTCACTCCCAGCTCAGAGCCCAGGCCAGGGGCCCCCAAGAAAGGCTCTGGTGGA +GAACCTGTGCATGAAGGCTGTCAACCAGTCCATAGGCAAGCCTGGCTGCCTCCAGCTGGG +TCGACAGACAGGGGCTGGAGAAGGGGAGAAGAGGAAAGTGAGGTTGCCTGCCCTGTCTCC +TACCTGAGGCTGAGGAAGGAGAAGGGGATGCACTGTTGGGGAGGCAGCTGTAACTCAAAG +CCTTAGCCTCTGTTCCCACGAAGGCAGGGCCATCAGGCACCAAAGGGATTCTGCCAGCAT +AGTGCTCCTGGACCAGTGATACACCCGGCACCCTGTCCTGGACACGCTGTTGGCCTGGAT +CTGAGCCCTGGTGGAGGTCAAAGCCACCTTTGGTTCTGCCATTGCTGCTGTGTGGAAGTT +CACTCCTGCCTTTTCCTTTCCCTAGAGCCTCCACCACCCCGAGATCACATTTCTCACTGC +CTTTTGTCTGCCCAGTTTCACCAGAAGTAGGCCTCTTCCTGACAGGCAGCTGCACCACTG +CCTGGCGCTGTGCCCTTCCTTTGCTCTGCCCGCTGGAGACGGTGTTTGTCATGGGCCTGG +TCTGCAGGGATCCTGCTACAAAGGTGAAACCCAGGAGAGTGTGGAGTCCAGAGTGTTGCC +AGGACCCAGGCACAGGCATTAGTGCCCGTTGGAGAAAACAGGGGAATCCCGAAGAAATGG +TGGGTCCTGGCCATCCGTGAGATCTTCCCAGGGCAGCTCCCCTCTGTGGAATCCAATCTG +TCTTCCATCCTGCGTGGCCGAGGGCCAGGCTTCTCACTGGGCCTCTGCAGGAGGCTGCCA +TTTGTCCTGCCCACCTTCTTAGAAGCGAGACGGAGCAGACCCATCTGCTACTGCCCTTTC +TATAATAACTAAAGTTAGCTGCCCTGGACTATTCACCCCCTAGTCTCAATTTAAGAAGAT +CCCCATGGCCACAGGGCCCCTGCCTGGGGGCTTGTCACCTCCCCCACCTTCTTCCTGAGT +CATTCCTGCAGCCTTGCTCCCTAACCTGCCCCACAGCCTTGCCTGGATTTCTATCTCCCT +GGCTTGGTGCCAGTTCCTCCAAGTCGATGGCACCTCCCTCCCTCTCAACCACTTGAGCAA +ACTCCAAGACATCTTCTACCCCAACACCAGCAATTGTGCCAAGGGCCATTAGGCTCTCAG +CATGACTATTTTTAGAGACCCCGTGTCTGTCACTGAAACCTTTTTTGTGGGAGACTATTC +CTCCCATCTGCAACAGCTGCCCCTGCTGACTGCCCTTCTCTCCTCCCTCTCATCCCAGAG +AAACAGGTCAGCTGGGAGCTTCTGCCCCCACTGCCTAGGGACCAACAGGGGCAGGAGGCA +GTCACTGACCCCGAGACGTTTGCATCCTGCACAGCTAGAGATCCTTTATTAAAAGCACAC +TGTTGGTTTCTGCTCAGTTCTTTATTGATTGGTGTGCCGTTTTCTCTGGAAGCCTCTTAA +GAACACAGTGGCGCAGGCTGGGTGGAGCCGTCCCCCCATGGAGCACAGGCAGACAGAAGT +CCCCGCCCCAGCTGTGTGGCCTCAAGCCAGCCTTCCGCTCCTTGAAGCTGGTCTCCACAC +AGTGCTGGTTCCGTCACCCCCTCCCAAGGAAGTAGGTCTGAGCAGCTTGTCCTGGCTGTG +TCCATGTCAGAGCAACGGCCCAAGTCTGGGTCTGGGGGGGAAGGTGTCATGGAGCCCCCT +ACGATTCCCAGTCGTCCTCGTCCTCCTCTGCCTGTGGCTGCTGCGGTGGCGGCAGAGGAG +GGATGGAGTCTGACACGCGGGCAAAGGCTCCTCCGGGCCCCTCACCAGCCCCAGGTCCTT +TCCCAGAGATGCCTGGAGGGAAAAGGCTGAGTGAGGGTGGTTGGTGGGAAACCCTGGTTC +CCCCAGCCCCCGGAGACTTAAATACAGGAAGAAAAAGGCAGGACAGAATTACAAGGTGCT +GGCCCAGGGCGGGCAGCGGCCCTGCCTCCTACCCTTGCGCCTCATGACCAGCTTGTTGAA +GAGATCCGACATCAAGTGCCCACCTTGGCTCGTGGCTCTCACTGCAACGGGAAAGCCACA +GACTGGGGTGAAGAGTTCAGTCACATGCGACCGGTGACTCCCTGTCCCCACCCCCATGAC +ACTCCCCAGCCCTCCAAGGCCACTGTGTTTCCCAGTTAGCTCAGAGCCTCAGTCGATCCC +TGACCCAGCACCGGGCACTGATGAGACAGCGGCTGTTTGAGGAGCCACCTCCCAGCCACC +TCGGGGCCAGGGCCAGGGTGTGCAGCAccactgtacaatggggaaactggcccagagagg +tgaggcagcttgcctggggtcacagagcaaggcaaaagcagcgctgggtacaagctcaAA +ACCATAGTGCCCAGGGCACTGCCGCTGCAGGCGCAGGCATCGCATCACACCAGTGTCTGC +GTTCACAGCAGGCATCATCAGTAGCCTCCAGAGGCCTCAGGTCCAGTCTCTAAAAATATC +TCAGGAGGCTGCAGTGGCTGACCATTGCCTTGGACCGCTCTTGGCAGTCGAAGAAGATTC +TCCTGTCAGTTTGAGCTGGGTGAGCTTAGAGAGGAAAGCTCCACTATGGCTCCCAAACCA +GGAAGGAGCCATAGCCCAGGCAGGAGGGCTGAGGACCTCTGGTGGCGGCCCAGGGCTTCC +AGCATGTGCCCTAGGGGAAGCAGGGGCCAGCTGGCAAGAGCAGGGGGTGGGCAGAAAGCA +CCCGGTGGACTCAGGGCTGGAGGGGAGGAGGCGATCTTGCCCAAGGCCCTCCGACTGCAA +GCTCCAGGGCCCGCTCACCTTGCTCCTGCTCCTTCTGCTGCTGCTTCTCCAGCTTTCGCT +CCTTCATGCTGCGCAGCTTGGCCTTGCCGATGCCCCCAGCTTGGCGGATGGACTCTAGCA +GAGTGGCCAGCCACCGGAGGGGTCAACCACTTCCCTGGGAGCTCCCTGGACTGGAGCCGG +GAGGTGGGGAACAGGGCAAGGAGGAAAGGCTGCTCAGGCAGGGCTGGGGAAGCTTACTGT +GTCCAAGAGCCTGCTGGGAGGGAAGTCACCTCCCCTCAAACGAGGAGCCCTGCGCTGGGG +AGGCCGGACCTTTGGAGACTGTGTGTGGGGGCCTGGGCACTGACTTCTGCAACCACCTGA +GCGCGGGCATCCTGTGTGCAGATACTCCCTGCTTCCTCTCTAGCCCCCACCCTGCAGAGC +TGGACCCCTGAGCTAGCCATGCTCTGACAGTCTCAGTTGCACACACGAGCCAGCAGAGGG +GTTTTGTGCCACTTCTGGATGCTAGGGTTACACTGGGAGACACAGCAGTGAAGCTGAAAT +GAAAAATGTGTTGCTGTAGTTTGTTATTAGACCCCTTCTTTCCATTGGTTTAATTAGGAA +TGGGGAACCCAGAGCCTCACTTGTTCAGGCTCCCTCTGCCCTAGAAGTGAGAAGTCCAGA +GCTCTACAGTTTGAAAACCACTATTTTATGAACCAAGTAGAACAAGATATTTGAAATGGA +AACTATTCAAAAAATTGAGAATTTCTGACCACTTAACAAACCCACAGAAAATCCACCCGA +GTGCACTGAGCACGCCAGAAATCAGGTGGCCTCAAAGAGCTGCTCCCACCTGAAGGAGAC +GCGCTGCTGCTGCTGTCGTCCTGCCTGGCGCCTTGGCCTACAGGGGCCGCGGTTGAGGGT +GGGAGTGGGGGTGCACTGGCCAGCACCTCAGGAGCtgggggtggtggtgggggcggtggg +ggtggtgttagtACCCCATCTTGTAGGTCTGAAACACAAAGTGTGGGGTGTCTAGGGAAG +AAGGTGTGTGACCAGGGAGGTCCCCGGCCCAGCTCCCATCCCAGAACCCAGCTCACCTAC +CTTGAGAGGCTCGGCTACCTCAGTGTGGAAGGTGGGCAGTTCTGGAATGGTGCCAGGGGC +AGAGGGGGCAATGCCGGGGCCCAGGTCGGCAATGTACATGAGGTCGTTGGCAATGCCGGG +CAGGTCAGGCAGGTAGGATGGAACATCAATCTCAGGCACCTGGCCCAGGTCTGGCACATA +GAAGTAGTTCTCTGGGACCTGCAAGATTAGGCAGGGACATGTGAGAGGTGACAGGGACCT +GCAGGGGCAGCCAACAAGACCTTGTGTGCACCTCCCATGGGTGGAATAAGGGGCCCAACA +GCCTTGACTGGAGAGGAGCTCTGGCAAGGCCCTGGGCCACTGCACCTGTCTCCACCTCTG +TCCCACCCCTCCCACCTGCTGTTCCAGCTGCTCTCTCTTGCTGATGGACAAGGGGGCATC +AAACAGCTTCTCCTCTGTCTCTGCCCCCAGCATCACATGGGTCTTTGTTACAGCACCAGC +CAGGGGGTCCAGGAAGACATACTTCTTCTACCTACAGAGGCGACATGGGGGTCAGGCAAG +CTGACACCCGCTGTCCTGAGCCCATGTTCCTCTCCCACATCATCAGGGGCACAGCGTGCA +CTGTGGGGTCCCAGGCCTCCCGAGCCGAGCCACCCGTCACCCCCTGGCTCCTGGCCTATG +TGCTGTACCTGTGTCTGATGCCCTGGGTCCCCACTAAGCCAGGCCGGGCCTCCCGCCCAC +ACCCCTCGGCCCTGCCCTCTGGCCATACAGGTTCTCGGTGGTGTTGAAGAGCAGCAAGGA +GCTGACAGAGCTGATGTTGCTGGGAAGACCCCCAAGTCCCTCTTCTGCATCGTCCTCGGG +CTCCGGCTTGGTGCTCACGCACACAGGAAAGTCCTTCAGCTTCTCCTGAGAGGGCCAGGA +TGGCCAAGGGATGGTGAATATTTGGTGCTGGGCCTAATCAGCTGCCATCCCATCCCAGTC +AGCCTCCTCTGGGGGACAGAACCCTATGGTGGCCCCGGCTCCTCCCCAGTATCCAGTCCT +CCTGGTGTGTGACAGGCTATATGCGCGGCCAGCAGACCTGCAGGGCCCGCTCGTCCAGGG +GGCGGTGCTTGCTCTGGATCCTGTGGCGGGGGCGTCTCTGCAGGCCAGGGTCCTGGGCGC +CCGTGAAGATGGAGCCATATTCCTGCAGGCGCCCTGGAGCAGGGTACTTGGCACTGGAGA +ACACCTGTGGACACAGGGACAAGTCTGAGGGGGCCCCAAGAGGCTCAGAGGGCTAGGATT +GCTTGGCAGGAGAGGGTGGAGTTGGAAGCCTGGGCGAGAAGAAAGCTCAAGGTACAGGTG +GGCAGCAGGGCAGAGACTGGGCAGCCTCAGAGGCACGGGGAAATGGAGGGACTGCCCAGT +AGCCTCAGGACACAGGGGTATGGGGACTACCTTGATGGCCTTCTTGCTGCCCTTGATCTT +CTCAATCTTGGCCTGGGCCAAGGAGACCTTCTCTCCAATGGCCTGCACCTGGCTCCGGCT +CTGCTCTACCTGCTGGGAGATCCTGCCATGGAGAAGATCACAGAGGCTGGGCTGCTCCCC +ACCCTCTGCACACCTCCTGCTTCTAACAGCAGAGCTGCCAGGCCAGGCCCTCAGGCAAGG +GCTCTGAAGTCAGGGTCACCTACTTGCCAGGGCCGATCTTGGTGCCATCCAGGGGGCCTC +TACAAGGATAATCTGACCTGCAGGGTCGAGGAGTTGACGGTGCTGAGTTCCCTGCACTCT +CAGTAGGGACAGGCCCTATGCTGCCACCTGTACATGCTATCTGAAGGACAGCCTCCAGGG +CACACAGAGGATGGTATTTACACATGCACACATGGCTACTGATGGGGCAAGCACTTCACA +ACCCCTCATGATCACGTGCAGCAGACAATGTGGCCTCTGCAGAGGGGGAACGGAGACCGG +AGGCTGAGACTGGCAAGGCTGGACCTGAGTGTCGTCACCTAAATTCAGACGGGGAACTGC +CCCTGCACATACTGAACGGCTCACTGAGCAAACCCCGAGTCCCGACCACCGCCTCAGTGT +GGTCTAGCTcctcacctgcttccatcctccctggtgcggggtgggcccagtgatatcagc +tgcctgctgttccccagatgtgccaagtgcattcttgtgtgcttgcatctcatggaacgc +catttccccagacatccctgtggctggctcctGATGCCCGAGGCCCAAGTGTCTGATGCT +TTAAGGCACATCACCCCACTCATGCTTTTCCATGTTCTTTGGCCGCAGCAAGGCCGCTCT +CACTGCAAAGTTAACTCTGATGCGTGTGTAACACAACATCCTCCTCCCAGTCGCCCCTGT +AGCTCCCCTACCTCCAAGAGCCCAGCCCTTGCCCACAGGGCCACACTCCACGTGCAGAGC +AGCCTCAGCACTCACCGGGCACGAGCGAGCCTGTGTGGTGCGCAGGGATGAGAAGGCAGA +GGCGCGACTGGGGTTCATGAGGAAGGGCAGGAGGAGGGTGTGGGATGGTGGAGGGGTTTG +AGAAGGCAGAGGCGCGACTGGGGTTCATGAGGAAAGGGAGGGGGAGGATGTGGGATGGTG +GAGGGGCTGCAGACTCTGGGCTAGGGAAAGCTGGGATGTCTCTAAAGGTTGGAATGAATG +GCCTAGAATCCGACCCAATAAGCCAAAGCCACTTCCACCAACGTTAGAAGGCCTTGGCCC +CCAGAGAGCCAATTTCACAATCCAGAAGTCCCCGTGCCCTAAAGGGTCTGCCCTGATTAC +TCCTGGCTCCTTGTGTGCAGGGGGCTCAGGCATGGCAGGGCTGGGAGTACCAGCAGGCAC +TCAAGCGGCTTAAGTGTTCCATGACAGACTGGTATGAAGGTGGCCACAATTCAGAAAGAA +AAAAGAAGAGCACCATCTCCTTCCAGTGAGGAAGCGGGACCACCACCCAGCGTGTGCTCC +ATCTTTTCTGGCTGGGGAGAGGCCTTCATCTGCTGTAAAGGGTCCTCCAGCACAAGCTGT +CTTAATTGACCCTAGTTCCCAGGGCAGCCTCGTTCTGCCTTGGGTGCTGACACGACCTTC +GGTAGGTGCATAAGCTCTGCATTCGAGGTCcacaggggcagtgggagggaactgagactg +gggagggacaaaggctgctctgtcctggtgctcccacaaaggagaagggctgatcactca +aagttgcgaacaccaagctcaacaatgagccctggaaaatttctggaatggattattaaa +cagagagtctgtaagcacttagaaaaggccgcggtgagtcccaggggccagcactgctcg +aaatgtacagcatttctctttgtaacaggattattagcctgctgtgcccggggaaaacat +gcagcacagtgcatctcgagtcagcaggattttgacggcttctaacaaaatcttgtagac +aagatggagctatgggggttggaggagagaacatataggaaaaatcagagccaaatgaac +cacagccccaaagggcacagttgaacaatggactgattccagccttgcacggagggatct +ggcagagtccatccagttcattcaacacctggttagaaaactggggccagcacacagggg +aagggtaagctggtttcatgatcgaatcaaggctcagacaatttttaaaggccagagggt +agactgcaatcaccaagatgaaatttacaaggaacaaatgtgaagcccaacatttaggtt +ttaaaaatcaagcgtataaatacagaaggtggagggaacttgctttagacacagttcagg +tgaagaaagacctggaaacttctgttaactataagctcagtaggggctaaaagcatgtta +atcggcataaaaaggcaatgagatcttaggGCACACAGCTCCCCGCCCCTCTTCTGCCCT +TCATCCTTCTTTCAATCAGCAGGGACCGTGCACTCTCTTGGAGCCACCACAGAAAACAGA +GGTGCATCCAGCACCACAGAAAACAGAGCCACCACAGAAAACAGAGGGTGACTGTCATCC +CCTCCAGTCTCTGCACACTCCCAGCTGCAGCAGAGCAGGAGGAGAGAGCACAGCCTGCAA +TGCTAATTTGCCAGGAGCTCACCTGCCTGCGTCACTGGGCACAGACGCCAGTGAGGCCAG +AGGCCGGGCTGTGCTGGGGCCTGAGCCGGGTGGTGGGGAGAGAGTCTCTCCCCTGCCCCT +GTCTCTTCCGTGCAGGAGGAGCATGTTTAAGGGGACGGGTTCAAAGCTGGTCACATCCCC +ACCGAAAAAGCCCATGGACAACGAAAAGCCCACTAGCTTGTCCAGTGCCACAGGAGGGGC +AAGTGGAGGAGGAGAGGTGGCGGTGCTCCCCACTCCACTGCCAGTCGTCACTGGCTCTCC +CTTCCCTTCATCCTCGTTCCCTATCTGTCACCATTTCCTGTCGTCGTTTCCTCTGAATGT +CTCACCCTGCCCTCCCTGCTTGCAAGTCCCCTGTCTGTAGCCTCACCCCTGTCGTATCCT +GACTACAATAACAGCTTCTGGGTGTCCCTGGCATCCACTCTCTCTCCCTTCTTGTCCCTT +CCGTGACGGATGCCTGAGGAACCTTCCCCAAACTCTTCTGTCCCATCCCTGCCCTGCTCA +AAATCCAATCACAGCTCCCTAACACGCCTGAATCAACTTGAAGTCCTGTCTTGAGTAATC +CGTGGGCCCTAACTCACTCATCCCAACTCTTCACTCACTGCCCTGCCCCACACCCTGCCA +GGGAGCCTCCCGTGGCACCGTGGGGACACAAAGGAACCAGGGCAAAGCTCCCTCAGCCCC +ATTCAAAGAGGCCTGGCCCACAGGCTCACGGAAAGTCAGCCTCTCATGCCCCGAGAGCTG +AGTGCAAGGGAGAGGCAGCGCTGTCTGTGCTTCCCATGCAGAAGCACCCCCCTCCCACCC +CTGTGCAGGCCGGCCTTCGCGGCAGACCACCATACACCACGTTCCAAGCCACACTGAGGC +CTCCCTCCAAGCCTGCAGCCCCCATTTCCAGACCCTGCCAGGGCAACCTGCATATCCACC +TCCCTACCCTGCCCCCCTCTTCCAGGAGTCTGCCCTATGTGGAGTAAGCACgtggttttc +ctcttcagcaactatttcctttttactcaagcaatggccccatttcccttggggaatcca +tctctctcgcaggcttagtcccagagcttcaggtggggctgcccacagagctcctcagtc +taagccaagtggtgtgtcatagtcccctggccccattaatggattctgggatagacatga +ggaccaagccaggTGGGATGAGTGAGTGTGGCTTCTGGAGGAAGTGGGGACACAGGACAG +CATTCTTTCCTGCTGGACCTGACCCTGTGTCATGTCACCTTGCTACCACGAGAGCATGGC +CTGTCTGGGAATGCAGCCAGACCCAAAGAAGCAAACTGACATGGAAGGAAAGCAAAACCA +GGCCCTGAGGACATCATTTTAGCCCTTACTCCGAAGGCTGCTCTACTGATTGGTTAATTT +TTGCTTAGCTTGGTCTGGGGAGTTCTGACAGGCGTGCCACCAATTCTTACCGATTTCTCT +CCACTCTAGACCCTGAGAAGCCCACGCGGTTCATGCTAGCAATTAACAATCAATCTCGCC +CTATGTGTTCCCATTCCAGCCTCTAGGACACAGTGGCAGCCACATAATTGGTATCTCTTA +AGGTCCAGCACGAGGTGGAGCACATGGTGGAGAGACAGATGCAGTGACCTGGAACCCAGG +AGTGAGGGAGCCAGGACTCAGGCCCAAGGCTCCTGAGAGGCATCTGGCCCTCCCTGCGCT +GTGCCAGCAGCTTGGAGAACCCACACTCAATGAACGCAGCACTCCACTACCCAGGAAATG +CCTTCCTGCCCTCTCCTCATCCCATCCCTGGGCAGGGGACATGCAACTGTCTACAAGGTG +CCAAGTACCAGGACAGGAAAGGAAAGACGCCAAAAATCCAGCGCTGCCCTCAGAGAAGGG +CAACCACGCAGTCCCCATCTTGGCAAGGAAACACAATTTCCGAGGGAATGGTTTTGGCCT +CCATTCTAAGTGCTGGACATGGGGTGGCCATAATCTGGAGCTGATGGCTCTTAAAGACCT +GCATCCTCTTCCCTAGGTGTCCCTCGGGCACATTTAGCACAAAGATAAGCACAAAAGGTG +CATCCAGCACTTTGTTACTATTGGTGGCAGGTTTATGAATGGCAACCAAAGGCAGTGTAC +GGGTCAAGATTATCAACAGGGAAGAGATagcatttcctgaaggcttcctaggtgccaggc +actgttccattcctttgcatgttttgattaatttaatatttaaaataattctaccaggaa +gctaccattattaccacaacttcacaaatgagaacaccgaggcttagaggggttgggttg +cccaaggttacagaggaagaaaacaggggagctggatctgagccaaggcatcaactccaa +ggtAACCCCTCAGTCACTTCACTGTGTGTCCCCTGGTTACTGGGACATTCTTGACAAACT +CGGGGCAAGCCGGTGAGTCAGTGGGGGAGGACTTTCAGGAAGAGGTGGGTTCCCAGTTGG +TGACAGAAGAGGAGGCTGCAAAGTGAAGGAGCAGGGGCTCCAGGTCTGGCGACAACCAGG +GAAGGGACAGGGCAGGGATGGCTTGGACCACGAGAGGCACCTGAGTCAGGCAGTCACATA +CTTCCCACTGGGGTCTACCATGTGAGGCATGGTGTGGGATCCTGGGAAGGAGACCAAGCC +TCATTTCAGTTTGCTTATGGCCAAAGACAGGACCTGTGTACCCGACAACCCCTGGGACCT +TTACCAAAAAAAGAGCAAACACCATTCACTCACTCATGTTAGATAAACACTGAGTGAAGT +CACTGGAGCCCAAGGACTGTGCGAGGTCAGCACTGCCAATACAAGAAGCTGCAGCCCTCC +AGCTCGCctccctcaatggccactccgtgctccagccatgctggcttccttttaggtcct +ccacctccaggctgtagttcatgtgcttctttctggaatgttcttcccaacctacccact +caaccctcagactttaccataaatgtcatttcctcacgtctgccttccctgacctgagac +caagccaggCTTCCCATGACGAGCCTCACAGTACCCCATCTCCCCTGAACAGATGCAGTA +ATAACCTACATAACccggggccatgatctatggctttgaatcctggctctgtcactaggc +caggtctctcagcccttctgtgcctcagtttcctcatctataaaatgagatgacggcagt +gcctgctcatgaagtgtgagttaatgcactcaaatcaatggttgtgcacggtttatatga +atattagtgattaCAAAATATTATCAatagaccttgtcacaactgttattgaagaactaa +tcatctattgcttatttaggtctttctctcctgccagaatgtgcgctccaggtggagagg +tatgttgccttatccgtggctggatatatagagattcccacactgccttgcacacgagca +ctgctgggtaaatatttgttggctgcaggaaAACGTGAAGGAATAGGCCCTCCAATGGGA +GGAAAAGCATGAGTTGTGAGAGCAGAGCCACCACAGGAAACCAGGAGGCTAAGTGGGGTG +GAAGGGAGTGAGCTCTCGGACTCCCAGGAGTAAAAGCTTCCAAGTTGGGCTCTCACTTCA +GCCCCTCCCACACAGGGAAGCCAGATGGGTTCCCCAGGACCGGGATTCCCCAAGGGGGCT +GCTCCCAGAGGGTGTGTTGCTGGGATTGCCCAGGACAGGGATGGCCCTCTCATCAGGTGG +GGGTGAGTGGCAGCACCCACCTGCTGAAGATGTCTCCAGAGACCTTCTGCAGGTACTGCA +GGGCATCCGCCATCTGCTGGACGGCCTCCTCTCGCCGCAGGTCTGGCTGGATGAAGGGCA +CGGCATAGGTCTGACCTGCCAGGGAGTGCTGCATCCTCACAGGAGTCATGGTGCCTGTGG +GTCGGAGCCGGAGCGTCAGAGCCACCCACGACCACCGGCACGCCCCCACCACAGGGCAGC +GTGGTGTTGAGACAACACAGCCCTCATCCCAACTATGCACATAGCTTCAGCCTGCACAGA +TAGGGGAGTAGGGGACAGAGCATTTGCTGAGAGGCCAGGAGCGCATAGATGGGACTCTGC +TGATGCCTGCTGAGTGAATGAGGGAAAGGGCAGGGCCCGGGACTGGGGAATCTGTAGGGT +CAATGGAGGAGTTCAGAGAAGGTGCAACATTTCTGACCCCCTACAAGGTGCTTGCTACCT +GCCAGGCACCCTTTCCATACCTTGTCTCAGTTCAGCTCCCCACCTTGGATAAACAAGAAA +CCTTGGTTGCAGAGGAAAAAAGAGGCTGGAAACAAAGGGGTAGAAATGGGGTAGCAGGGG +AGATTGCCTGATCAACTGCCAAATGGTACACAGTTCTGGAAAAGCACAAAAAATGTGCAC +ACACGGGTTCTTCCCACTTTAACCCCTGAGGAATCTGAGGCCTGCTCCTGAAACAGACTG +GGCAGTGGCTAGTGACTCTAGGTATAGGAGTATCCAGCCCTGCTCACCCAGGCTAGAGCT +TAGGGGGACAAGAGGAAAGAGGTGCCTGTGGGGGTGGAGGACAGGAAGGAAAAACACTCC +TGGAATTGCAAAGTGAGGGCAGAGTCTATTTATATTGGGTTTAATTAACTCCTCTCCCTG +GTGCCACTAAAGCAGCAATCACACTGCAGACAGCACTGATTTGATTGGCAAGAGATGCAC +CAGGCAGAATATTAAGGGACCAGGCCCCTATAAATAGGCCTAATCACAGCCCCTCACTGG +AAAATGGTAAGGAAGACATTAATCAGGCCTGGCACTGTGCCCTAGACCTGCTCCCCTAGG +CACTACAGTGGGGCCCTTGGTTGCAACACAAGTAGGTAGGGATGGATGAGTGTGGCATGA +AGGGCCTAGGAGATTTCACTTGGGTTTAAAATGCTGTGACCTTGAGTAAGTTGCCGTCTC +TGAATCTGATCCTTTCGATTTCCCATTCTCCAAACTGAGAACTAGCACTGCTGAGACGTG +GTTATTTCCAATAATAATTTGTATATTTTACATAACGCACCACACCAACATCTTCACCCA +GTTGGAGCCTACTCCTTTGCTCCCGCTGCTGGCTTCCCCAGCCCTCCCTTCTGCCCTCCT +CAGGCCAGCACTTTTCAGTGAGTTCCTCCTTTGCATACAGGCTTTCCAGATCTGTACTTG +CCTTGAATACTCATCAGAGCCCAGGAGTTACTCCTCACCTCCCACTTATTTTTCCTCCCA +TCAAATAACTAAAGCATGGCCAGCTGATGCCCAGCCAACTGAGAAACCCAACCCTCTGAG +ACCAGCACACCCCTTTCAAGCATGTTCCTCCCTCCCCTTCTTTGTATTTATACTGATGCA +AGTTTGCTGGCTGTcctaacttatttctgtgcctcagttctcccatatgtaagatcacaa +agggggtaaagaTGCAAGATATTTCCTGTGCACATCTTCAGATGAATTTCTTGTTAGTGT +GTGTGTGTTTGCTCACACATATGCGTGAAAGAAGAGTACATACACAGATCTCCTCAAAAA +GGAGGCAGCAAGCCCGTTCAAGAATGGGACTGAATACACCTGATGAGTGGTTTACTTTCT +GTCTGCAAACATCTACTGATCATCTGTTAGGTGCAGGCCATGATCACAACAAAGACGAAT +AAGACACTACACTAGCCAGGGAGAGTCTCAAAAACAACTAAACTCAAATTAAATTCATTC +TACTCCAGTCATGGGTACAAAGCTAAGGAGTGACAAATCCCTCTTGGAGTTAGGGGAGTC +AGGAAAAAGCTCTTAGCAGAATGTGTGCCTCTCggccgggcgcagcggctcacgcctgta +atcccagcactttgggaggcgaaggcaggcagatcacctgaggtcgggagttcgagacca +gtctgaccaacatggtgaaactccatctctactaaaaatacaaaattagccaggcgtggt +ggtgcatgcctgtaatccccgctactcgggaggctgaggaaggagaatcacttgaaccag +gaaggtggaggttgcagtgtgccaagatcgcgccatggcactccagcctaggcaacgagg +gtgaaCCAGGTCCAGGAAGAAGGTGCAAAGACAGCATTCCAGGTAAAAGAAACAGCTTGA +ACAAAAAGTGTGTAGGGGAACCGCAAGCGGTCTTGAGTGCTGAGGGTACAATCATCCTTG +GGGAAGTACTAGAAGAAAGAATGATAAACAGAGGCCAGTTTGTTAAAAACACTCAAAATT +AAAGCTAGGAGTTTGGACTTGTGGCAGGAATgaaatccttagacctgtgctgtccaatat +ggtagccaccaggcacatgcagccactgagcacttgaaatgtggatagtctgaattgaga +tgtgccataagtgtaaaatatgcaccaaatttcaaaggctagaaaaaaagaatgtaaaat +atcttattattttatattgattacgtgctaaaataaccatatttgggatatactggattt +taaaaatatatcactaatttcatctgtttctttttacttttAGAAATCACATATGTGACT +TAAATATTTCTTTTCTTTTTCTTTCCTCTCACTCAGCGTCCTGTGATTCCAAAGAAATGA +GTCTCTGCTGTTTTTGGGCAGCAGATATCCTAGAATGGACTCTGACCTAAGCATCAAAAT +TAATCATCATAACGTTATCATTTTATGGCCCCTTCTTCCTATATCTGGTAGCTTTTAAAT +GATGACCATGTAGATAATCTTTATTGTCCCTCTTTCAGCAGACGGTATTTTCTTATGCTA +CAGTATGACTGCTAATAATACCTACACATGTTAGAACCATTCTGACTCCTCAAGAatctc +atttaactcttattatcagtgaatttatcatcatcccctattttacataaggaaatgggg +ttagaaagaccaaataacattttttcaacatcaaaacactagcttgagatcaagcccaga +cttggatctgtcgtctgaattccaagctttttgttatttattgatatgttttgttgtTTT +CATGCAATAATGCAAATCTTAGCCCAAACATTTTGTTAGTAGTACCAACTGTAAGTCACC +TTATCTTCATACTTTGTCTTTATGTAAACCTAAATTAGATCTGTTTTTGATACTGAGGGA +AAAACAAGGGAATctaacactaaccagcccgtagtgtgtggtcaacactttcgttacttt +agtatacatcaccccaattgtttgtcttcaccacacactttggagttaggtagtagtatc +tatttttacaaataagaaaacccaggcacaaaggggttgattagcAATTATCTTTTGAAA +AGCCTGTAGTTGCTCATCTGAAGAAGTGACGGACCACCTCTTATTTAGTGGACAGACAGT +AACTAGTTGAGAAGACAGGGGATTTTGTTGGCGGAAAAAAAAATTTATCAAAAGTCGTCT +TCTATCAGGGAGTTTTATGAGAAACCCTAGCTCCTCAGTTCCACAGTGGGTAACTGTAAT +TCATTCTAGGTCTGCGATATTTCCTGCCTATCCATTTTGTTAACTCTTCAATGCATTCCA +CAAATACCTAAGTATTCTTTAATAATGGTGGTTTTTTTTTTTTTTTGCATCTATGAAGTT +TTTTCAAATTCTTTTTAAGTGACAAAACTTGTACATGTGTATCGCTCAATATTTCTAGTC +GACAGCACTGCTTTCGAGAATGTAAACCGTGCACTCCCAGGAAAATGCAGACACAGCACG +CCTCTTTGGGACCGCGGTTTATACTTTCGAAGTGCTCGGAGCCCTTCCTCCAGACCGTTC +TCCCACACCCCGCTCCAGGGTCTCTCCCGGAGTTACAAGCCTCGCTGTAGGCCCCGGGAA +CCCAACGCGGTGTCAGAGAAGTGGGGTCCCCTACGAGGGACCAGGAGCTCCGGGCGGGCA +GCAGCTGCGGAAGAGCCGCGCGAGGCTTCCCAGAACCCGGCAGGGGCGGGAAGACGCAGG +AGTGGGGAGGCGGAACCGGGACCCCGCAGAGCCCGGGTCCCTGCGCCCCACAAGCCTTGG +CTTCCCTGCTAGGGCCGGGCAAGGCCGGGTGCAGGGCGCGGCTCCAGGGAGGAAGCTCCG +GGGCGAGCCCAAGACGCCTCCCGGGCGGTCGGGGCCCAGCGGCGGCGTTCGCAGTGGAGC +CGGGCACCGGGCAGCGGCCGCGGAACACCAGCTTGGCGCAGGCTTCTCGGTCAGGAACGG +TCCCGGGCCTCCCGCCCGCCTCCCTCCAGCCCCTCCGGGTCCCCTACTTCGCCCCGCCAG +GCCCCCACGACCCTACTTCCCGCGGCCCCGGACGCCTCCTCACCTGCGAGCCGCCCTCCC +GGAAGCTCCCGCCGCCGCTTCCGCTCTGCCGGAGCCGCTGGGTCCTAGCCCCGCCGCCCC +CAGTCCGCCCGCGCCTCCGGGTCCTAACGCCGCCGCTCGCCCTCCACTGCGCCCTCCCCG +AGCGCGGCTCCAGGACCCCGTCGACCCGGAGCGCTGTCCTGTCGGGCCGAGTCGCGGGCC +TGGGCACGGAACTCACGCTCACTCCGAGCTCCCGACGTGCACACGGCTCCCATGCGTTGT +CTTCCGAGCGTCAGGCCGCCCCTACCCGTGCTTTCTGCTCTGCAGACCCTCTTCCTAGAC +CTCCGTCCTTTGTCCCATCGCTGCCTTCCCCTCAAGCTCAGGGCCAAGCTGTCCGCCAAC +CTCGGCTCCTCCGGGCAGCCCTCGCCCGGGGTGCGCCCCGGGGCAGGACCCCCAGCCCAC +GCCCAGGGCCCGCCCCTGCCCTCCAGCCCTACGCCTTGACCCGCTTTCCTGCGTCTCTCA +GCCTACCTGACCTTGTCTTTACCTCTGTGGGCAGCTCCCTTGTGATCTGCTTAGTTCCCA +CCCCCCTTTAAGAATTCAATAGAGaagccagacgcaaaactacagatatcgtatgagtcc +agttttgtgaagtgcctagaatagtcaaaattcacagagacagaagcagtggtcgccagg +aatggggaagcaaggcggagttgggcagctcgtgttcaatgggtagagtttcaggctggg +gtgatggaagggtgctggaaatgagtggtagtgatggcggcacaacagtgtgaatctact +taatcccactgaactgtatgctgaaaaatggtttagacggtgaattttaggttatgtatg +ttttaccacaatttttaaaaaGCTAGTGAAAAGCTGGTAAAAAGAAAGAAAAGAGGCTTT +TTTAAAAAGTTAAATATATAAAAAGAGCATCATCAGTCCAAAGTCCAGCAGTTGTCCCTC +CTGGAATCCGTTGGCTTGCCTCCGGCATTTTTGGCCCTTGCCTTTtagggttgccagatt +aaaagacaggatgcccagctagtttgaattttagataaacaacgaataatttcgtagcat +aaatatgtcccaagcttagtttgggacatacttatgctaaaaaacattattggttgttta +tctgagattcagaattaagcattttatattttatttgctgcctctggccaccctaCTCTC +TTCCTAACACTCTCTCCCTCTCCCAGTTTTGTCCGCCTTCCCTGCCTCCTCTTCTGGGGG +AGTTAGATCGAGTTGTAACAAGAACATGCCACTGTCTCGCTGGCTGCAGCGTGTGGTCCC +CTTACCAGAGGTAAAGAAGAGATGGATCTCCACTCAtgttgtagacagaatgtttatgtc +ctctccaaatgcttatgttgaaaccctaacccctaatgtgatggtatgtggagatgggcc +tttggtaggtaattacggttagatgaggtcatggggtggggccctcattatagatctggt +aagaaaagagaGCATTGtctctgtgtctccctctctctctctctctctctctctcatttc +tctctatctcatttctctctctctcgctatctcatttttctctctctctctttctctcct +ctgtcttttcccaccaagtgaggatgcgaagagaaggtggctgtctgcaaaccaggaaga +gagccctcaccgggaacccgtccagctgccaccttgaacttggacttccaagcctccaga +actgtgagggataaatgtatgattttaaagtcgcccagtgtgtggtattttgttttgact +aatacaaCCTGAAAACATTTTCCCCTCACTCCACCTGAGCAATATCTGAGTGGCTTAAGG +TACTCAGGACACAACAAAGGAGAAATGTCCCATGCACAAGGTGCACCCATGCCTGGGTAA +AGCAGCCTGGCACAGAGGGAAGCACACAGGCTCAGggatctgctattcattctttgtgtg +accctgggcaagccatgaatggagcttcagtcaccccatttgtaatgggatttaattgtg +cttgccctgcctccttttgagggctgtagagaaaagatgtcaaagtattttgtaATCTgg +ctgggcgtggtggctcatgcctgtaatcctagcactttggtaggctgacgcgagaggact +gcttgagcccaagagtttgagatcagcctgggcaatattgtgagattccatctctacaaa +aataaaataaaatagccagtcatggtgtcacacacctgtagtcccagctacatgggaggc +tgaggcgggaggatcacttgagcttgggagatcgaggctgcagtgagctatgattgtacc +actgcactccaggctgggcgacagagagagaccctgtctcagaaaaaaaaaaaaaaGTAC +TTTGTAATCTGTAAGGTTTATTTCAACACACACAAAAAAAGTGTATATGCTCCACGATGC +CTGTGAATATACACACACACCACATCATATACCAAGCCTGGCTGTGTCTTCTCACAAATG +CACTGCTAGGCACCACCCCCAGTTCTAGAATCACACCAGCCAGTTCACCCTCCAGATGGT +TCACCCTCAACTTCATAAAAGTTCCCTACCTAATCTACTGACAGGCTCATCCCCGACCTA +ATTTTAAAGATTTCCTAGGAGCTGCAGTGGGAATCCTGGACCTCAGCCTGGACAAAGAAC +AGCTGCAGGTCATTCTCATGTGTGGACACAGAAGCTCTGCCTGCCTTTGCTGGCCAGCTG +GGCTGAGCGGGCCTGGGAATTAAGGCTGCAGGGTTGGTCCCAGGCAGTCTTGCTGAAGCT +TGCCACATCCCCCAGCCTCCTGGATTTGCCAGGATCCAAGAGCATGGACTTTAGGAATTC +CTGGTGGAGGAGTGAAGAAAATGTGACAGGGTGTCCTAAGCCCCGATCTACAGGAAGAAA +ACTGGAAATAAGACTGAGGACTTAGTTTAAGATGTTCCTACTCAGCCTCTAGCTTTTGTG +CTACAGTTCTGGGAACAGACTCCTCTCTCCTGAAAACCACTTCCCTCCGCAGCATTAGAT +TTCACCAAGATGTCTTGCTTGTGGGAAAGACTTCCAAGGATGCCTGGAGAGAGGAGGATG +GAAATGTCCTGCTCTCTAAACAGATAGACAGATGCAGCCAGACAGAAAATAGTTTATCTT +GCTGAGGTTTCTAATGTATTTGAAAGAGGCCTGGGTCTAGAAGTCTACCCAGAGGGCTCT +GTGTTGTGCACGCAAAGATAAGAACCTTCCCTGTGGGAGTTCCAGAGCCAGTTTTCATAA +ACACCCATCGGTGACTGTGTTCAGAGTGAGTTCACACCATCCTGACCTGCCCTGAGTTAG +ACCTTACATGGTCTTCCTCCTCTAGGAAGCCTCTGCAGCCCAGGAACCTCCCCTTATCGG +AAATGAACAGCATTTGAAGCTTCACCAGACAGACCAGACAGCTTAGCCCTCGTGTTGTGC +CATGTGGGTTGTTCTCTGAGAGGcaggagagcatagtggttactaggaagggaaggactt +tgggactagactgcctcggctggagtcctctttctgcttcatagccacgtgatcctaggc +atgttacctgtgcctcagttttcactctgtcaatatgtaataactgaatctgtctttgtg +gtgaggattcagtgagttaacatatttgaagtgcttaaaaATGAGGCTTGtgtccataga +ttaatgagtgaatacacaaatggtgatatggacatacagtggagtattagtcataaaaag +gaaggcagagctgatccatggcaccatgtgacagaacctcaaaagcattaggttaagtgg +aagaagccagacacaggtcacctattgtgtaattccatttataggaaatatacagaatat +gtaaatccgtggagaaagaaagccgatttccaggggctaaggggaggggagaatgggaag +tggctgcttcatgggtacaaggtttcattttgagctgatgaaaatgttttggaactacat +agagatagtgttggcacaacatggtgaatgtactgaatgccactgattgttcaatttaaa +atggtcaaacttatatgaatttcacctccattaaaaaaaAAAAAAAAGgaccagatgtgg +ttgctcacacccataatcccaacactttggaaAAAGGTGAAAGTTTTTTTTtcttttttt +ttttatatacttaagttctagggtacatgtgcataatgtgcaggttggatacatagatat +gcgtgtgccatgttggtttgctgcacccatcaacttgtcatttacattaggtatttcttc +taatgctatccctcccccagccccccacccactgacaggccccagtgtatgatgttctct +gccccatgtccaagcgttctcattgttcaattcccacctgtgagtgagaacatgcagtgt +ttggttttctgtctttgtgatagtttgctcagaatgatggtttccagcttcatccatgtc +cctgcaaaggacatgaactcatcctttttaatggctgcatagtatcccatggtatatatg +tgccacattctcttaatccagtctgtcattgatggacatttgggttggttcaaagtcttt +gctattgtgaatactgccacaataaacatacatgtgcatgtgtctttatagtagcacgat +ttataatcctttgggtatatacccTAAGACctgggacgcatttaaagcagtgtgtaaaga +gacatttatagcactaaatgcccacaagagaCCTCTGCCTGAGAACGTGGGTTTCAGCCT +AAGAGTTGTAATATGTGTGCCCATTCACAGGTGCTGCATCAGAGTCCCAGGTGGGAAGAA +GGCAAGCATACACAAAAATGGTAAaaggcagaaaggagcccagtctcgttctttttaaga +agttttcctaagaatctccacccagcgacttgctctcacatcttcttggccagcactgga +ccacacaactccttctagatacagaggagTCCTAGGATTCTATGAGAAAGAAGGGGAGGG +TGGGCAAAGGGCAGCCAGCTGTGCAGCATCTGCTGGAGACACCTAACCCTTGGTGGAGGG +GTTGTGGTGCTGGgagaaggctttctggacggtgtgacagcagagataaacttaaaggcc +aagtaggagttaccctggtgaagcagggcagggttacaagcattccagcaacatgaagca +gcaGGAGtgttttaattaaaagaaggcagttgctgtaaccaactataaacaaataaaggc +ttaaacacaatggaagtttatttctcactaagggaacatccaaatccatgatactttaag +tcagggacccaggttcctcccatctatggttctgccatcactaatctgggtcttccacaa +ttgccgtgctccttggaggtgggaagagcaggcggaggacacgtgggaggttttagggac +aagcctggaggcagcatgcgtcactcccatgcagagtccattggccaatgctggctccga +tggccacatctcactgcaggggcagctgggaaatacagtctggctgtctacccaggagga +agagcagccagtttctgctgCTGATGATCAGGAGGTGGAGAAAATGTTCAGTCAGGCAGG +GAGTGGGAATAGACAAGACCACAAGCAGCTTGGTGCCTCTGAAAGGGAGAGGGGTGGAGG +GGAGACTAGAGAGGTGGGTAGGAATACTGGATTCCACTGACCACGTGCTGGATGTCACGC +TTAGCCCTCCTGCTCTGTGCCGGGTTAGGCACCTGGTGTTTTACGTACATAATCTCAATT +CTGTGAGGGCATCCGACCTGTGGGAAAAGAGCTGTTTGTTTCAAATGCCAGTCCTGCTTC +CTAACAAGTGTTTAGAGCTTAATCGTGTTCAAAAtacatatacaatgtttaatacttaca +agaatttggtggggaaaatattaccatctttcccttttgtgattggagaaaaatgaggct +ttgaagggtttaagaacttgcccaaggtcggccaggtgcagtggctcatgtctataatcc +caacactttgggaggctgaggtgggaggatcgcttgaggccaggagttcaagaccagcct +gagcaacatagtgagactttgtctctataaaaaataaataaataaataaaaaCAACTTGT +CCAAGGTCAGACAGGCAGCCTCTTAGTAAGCACACATATCCTCTATATTATACTACCTCT +CATGGAGGATCTCCTGTGTTCTACAAATAGTCTGGACTTGAGCCAGAATGTGTTATAATC +CTGGGATCACGGCCAGTGGGCTTAGAAGAAGCCATCTCTTTCTCATGCCAAGATGAGGCT +CCCCCAGATTTGCTCAGACTTACCTATAGTCAGCAGCATCGGGGGTCAGGAAAGACTTCA +CGAAGCCATAAATGCATCCTTCTCGGGGCAGCACCTGGCTCTCCCAGGTGAGAGAGGACT +CCATTTTCACAGGCAGGCGTGGGAGCTTCAGCACCCATCTCTGGGCCCAGAATGACCCAC +TGGAGACCTTACAGCTCTCCTGTCACCCCCAATTCCTGCCCCCTCTGCAGCCTTGGAGGA +GAATGGAGCTGAAGGGCCTGCCCTCTGTAGGGTGAGAAAGGGAGGCTAAAGCCTGGTGCC +CACTGCCCTGGCTGCTCCGCATTGCAGGAGCTGCGCCCTTCCTTTCCTGGCACAGGGTCC +ACAGCCCCGAAACCCCGTTGTGTGGGAGCTGGGCACAGGGCAGCAGGACTAATCCTTGGA +ACAGCTCAGGGAGGATTATCCCAGCCACTGTCAGCAGCGGTGCAGCTGGCTCATTCCCAT +ATAGGGGGAGGCCAGAGCCAGGGGCCTGCCACAAGTTGGAAGGCTGGGGAAGGGGAGGCC +AGCAGAGGTGTCCTGGCTGTGGGTGGCTCTGAGGGGGCTCTCAGGGGTGGGGCTAAATCT +CAGGGGCAGGATTATGTAAATCAAACCAATTCTAGCCACAGATTTAAAGTTTGGAAAAAA +AAAAAAACCCAGCCTGGCGGAAAGAATTTAAATTATAAAAACTTAGAAGTATGGAATGTG +AAATCATCCTGTAGGTGCTTATTTAACAACGAAATCATCCCGACACAATGAGCCATATGT +GAAAAGTCATCCTTCCCCAACACATCCCCCAACAGGCACTCCTCAAGCCTCTCCCACCCA +AGTGCTGGCATCCTCCCTGTCCTGCTTCACCTGAGACACCCCTTGTCTCATTAGACATGC +AACTACGGGAGGGGTGACAGGAAGACAAGACACTATTTCCTCAGGCCCAGTTTGGTGTGG +GGAGAAAGCCTCCTGATCCTGAAAGCAAGAATTTGACCAGAGCAGAAGTAATCAGTATGC +AGATTGATTCTGTGGTATGTTAATGTTTATGCATAGATTATGAGGACCAGGTGAAAAGTG +GGCCAGGGGAGCCAGATGTGTGTGTGAGTCATGGGTGGCTGAGATGAGGACAGGAGGGAA +ACTGGTTTGGAGGGTGCTGGCGATGGGGTGGGGGTGCCAGGAGGAAGGGAGGCTAGTTGT +TTGAATGTCTGCATGAAAAAGCGGACGACAGCGGGGTCTGGGTGAATTCGGGCAACCATT +TGGACCGTGGAGAAAACTGCCTGCGTGCGGCTGAGGACCTGCACTATTAATTTGTTTTTT +AGCTAAGGCAAAGATAAATATAAAAACtgatactccacccagttaccagaaaacatttag +gtatgtgtgagacaacttgggtatgtgaacctaccttttcaatgtaaattcagtgaaatc +taagtgcagatcccatatttccaataaaaaggtaacatccaaactcagatgtcctatgag +tataaaatacacaaagatcttctggacttagtatgaaaagggattttttttttgtcaggt +acctcactagttatttttaaaataggattgcatgttgaaatgataatcttttggatatat +tgggttaaataaatttattattaaagttaatttcacttaaaaatgtttaatgtagctact +agaaattttaaaattaagcatgttgctcaccttatgtttctattggacggctctCTCTAG +ATACAAAGGCTGCCAAGAGGGACCTCACTCTAGCTTCAGGGAGAAGAGAGGAATTAGCAA +GGCCAAGCAGAGGCTCCTGAGGGCAGGGCCAAGGGCGGCTTGGTGGGGTGGGGATGGGAT +GCACAGAGATAACTCCAACCCTTAAGAAGGTGTTTCCTAGAGCAGGCTGTGACCTGTCAG +TTTATATACTGAGGCTTAGGAGCCTCTTGGATGCCCCCAGATCTGCACCCCTGAATTGCC +CTGTGCCCCTGCCGTCTTTGTTCCTGTGCTGGCATAGTGGTCTCACCTCCGGCAGtatca +ccaccactgggcacaagcttctccagcacagcaactgtgtcttatttctccttgtactcc +cagtgttcacaccatgctgcactcacagaagactcttcgttgatattttgtggacagaga +gaatGCCTGTGAGAGTGGGCTGAAGTGTGCGTTGGGCTCCAGAGACCTTAAGGAGGGGAG +ACCAGGTCCTGAGTAAAGTTGAAGGGGAGGGGCTGAGTCCTGCTAGCCAGGAGTCTCATC +CCCTGGGGAAGTTCCAGGGACCCCTCAGAAGTGCAAGGGGACGGTGTTAGTGTTAGTCCA +GTAACACAGCCCAGAGCCTGCcttccacgtgggtttgacaggagcctcctaactgctctt +ctgcttccatttttgccccttcagtctattctcaacagggaagccagaggcatccttaac +catgtcagatcatgtggctcctcagctcaaagccTCATCTCAGAGGAAAGCTCTGGTCCC +TTAGAAATGGCCCAAGTGGTGACAGACAGACTCTAAGGtgagcagactgttgctagatat +ctgggctcggaggactcgccactgctcaaaggcagtgaggattttcgcactagaagctgg +aggacagggatccttgttaggtaggagcagaaagcttagaaaagtggtctcctgcagtta +cgtggcaaacacatcatgtaagtgataaattgggtatgcagttgaggagatttccaagta +aaatgttgaggatgctgcctggtttcttcttactgcttataatatagtgtgagagaagag +agataaattgagaaagagactggtttttaaactgttaaaattgaatcaggacttgatgat +tttgaaaattgtcagtctccccacatggaaaaagatgctgaaattaacaaatggcttctg +agcatgtggcatagggtgtaactgtacagtcttttgtgattatgcataaagatcaaagga +tgggagtagcaatgagtcacacagaggtctgttgcaagagattacaagggtgtaccatgc +agaacctctccaccaaaccttagggcccttgggaagcttcagtgagttaccctgggggcc +atcttggcaggagctgaaggtagaaaggtagagtttatctctaaaagattcatgggtatg +gctcttgacaaatcgactatgagccccaccgaaacccacagaggacaggcaaagggtttg +ggaaagctgtttcacccacagtgctggcagattggtctgtaggggacagagtgcaaaatg +aaagaagactgtcagagaccccaaactctgctgtcaagaagaaggctgataaaactactt +ggctgcaaacacgtggatctttcgtgagaaaagaaggatgacccagaggcagaagcccag +aaggcagagccaagagacatggaatcttcccacatcttaaaacctgtttagggaacacca +gcatctgtccagctggatttcagaaccaccattccttcatccttcccctgctgcctcttt +ctgaacagcaatgtctcaagctttacccaccattgtgtgttgcatatgtagggggcagat +agcttgtatctttagttttccagatcagaggaacatccaaagaaatctgttctacaccta +aacccgatttagatgagattcgggactgtgagcatgaagggatctcaagaggggtgaatg +tgttttgcatgcacaagggacaggagtcttggggacagaggacaggctgtggtggcagat +actaaggtgacccccacaacccccacctctgccattcacacccttgaataatccccttct +ctggttgtaagcagaacctgtggcttgcttatgaaggaggcggtatatatgtgattcatg +tactgatcatattgtataagatcactggctggatgcagtggctcgtgcctgtaatcccaa +cactttgggaggctgaggcgggtggatcacctgaggtcaggagttcgagaccaggctggc +caacatggcaaaaccccgcctctactaaaaatacaaaaattagccaggcatagtggtgca +cgcctgtaatcacagctactcaagaggctgaagcaggagaattgcttgaactcaggaggt +ggaggtggcagtgagccaagatcgtgccactgcactccagcctcagtgacagagcgagac +tctgtctcaaaaaataaataaataaaatgttaagatcataacctgtctttctggggactc +tctcttgacgcctttgaagaagcaggctgccatgttgcaagctgcctcatggaggggatc +agctgcgaggagctaagagccccctccagtcgatgctcaccaggaagctgaggtcttgtg +tccagcaccctgcatagaactgaatgctgccatgtgagcttggaagcagagccatccaca +cagctgagccctagatgagaacccagtgctggctgacaccctgatggcaccttacagagg +accagttaggctgtgccaactcctgacctgcagaagctggggaacactgggtcgtatttg +cagctgctggatttgtgggaatttgtcacacagcaatTGGGAGTCACACAGCCTGTGACG +CCCCAACAATCCACAcctcctgcatctccctgccttcacttcctagcacactgccctgac +tccctctgccgcagccacgctggccctctgctgttcttcgaagccaccagggctgcattg +gctcccagcctttgctctcactgctttctcctcctagagagcccttcctgcatgtatatg +tttgactcactcccttgcctccttcagacttgtacttaaaaatctcagtaagcatttccc +tggctacccttttaaaaattgcaacccacttccatccccatccccaacatgccatatttc +ctttcttcttcttccttcttcctttttttttttttttttttgacacaggttctctgtcac +ccagcctggagtgcagtgacatgatctcggctcactgcaacctctgcctcccCAGGCAag +aaaaggggaggatgccaataaaggatgcattgatttgtatttactacagtggacatcaag +ggcacattcttgctgtggccatcaagagactgtataaattctatgacttgtagttgtccc +acttaagaaacaaagaagctgtgcatttctttactggtctagagctgctctagggcattt +tctctacagcaattctaggtttccccaccttgtgagtttagctttttctatattcaaaga +aaagtcctcagccagagattctcaggagcttatagaacaatccaaactcttgggaatatt +aagtggagaggggtacgtgcaagacaccaacagcACTAGAAACAGTCCACATCTTTCCAT +GCGTGGAGGAGTTTATGCTCTATGTGAGTTCACTCCATCATTAATTCTTCAAACACAAGA +GTGTTAAAGGAACAAGAGTTAATGGGTCCTGTCATTACACTTGTTCCCAGGATGACATTC +TTCATCTTCCTCTTCTACAACCTGTTCTATATTCCCCTCATGTTTATCCAGTGCTTCTGC +TAGTCTAGTTCACTTCCAAAGACCCATGATTACCATGGCCCTGTCAGGCTGTAATTGCTG +CAATTTCCAATTTACAATTGTCATCATCTATGGTTGATAAAGgtatagcaatatttctat +ttcctcatgataatgaaggtcaattacaactgccagtataataacttatttctttgtctg +ccaacctacatacacaaggaagccaaaatgacagggagctactaaaactttattcttatt +ggaatgcttactatgtacccagaagaagcattctccctactccagcagagcttaatgctg +taggtccaggaagctcaaattctccaagggagttttagtgagaggagccactctcaccct +ctgcccttggtttacaaacctgtatattctaggacccaatatcttacaatgtccattggt +tcaaagtataacatgttaaagcacagagccccaactctgaaaagtaccatccctaaattg +gcatttagttgcacctttatatccacctttaaaagaaatatcttttaatgttctatcaga +ctgatagattctgtttaatatagtatattatagcaccagtggatcatttggttgtatgca +tattattgtaccttctctgctacaaaatatattcctttgtcctaaggtgtgttacaaaga +acattaggcattctatgcatctttggatagtttaatggccaagacattgatggcaggaga +gtcaaagccacaggtggaaaacacatttatcccagtaagaacaaattgctattcttccac +tgtagagagggtaaacaatgtgccattacgttgccaattgaatgcctcaatcatgtcaag +ggctgaacatctatgactgtttctgaaaggtcaaacattcaacagaggctgtagctagaa +ctgccttaatgataagagatcatgctgaattacccatgcaaaaccttaatacttgacact +tatcactactttattcaagagcctattgtgcaagcataagtggctgagTCAGGTTCTCAA +CTCTGCTCATTAATACTATGCTTGGAGTATACAGTAAGATAAGAAACATAAATAAGAAGT +GTACATTTGTTTCTTCCTGTTTTCTTCTGGCTATTGGATCAATTACATCCCATCTTAAGC +TGACCCCTGTGTAATTAATCAATATCCGTTTTAAGCAGCAATCCATAGTTGTGCAGAAAT +TAGAAAACTGACCCACACAGAAAAACTAATTGTGAGAACCAATATTATACTAAATTCATT +TGACAATTCTCAGCAAAGTGCTGGGTTGATCTCTATTTACGCTTTTCTTAAACACACAAA +ATACAAAAGTTAACCCATATGGAATGCAATGGAGGAAATCAATGACATATCAGATCTAGA +AACTAATCAATTAGCAATCAGGAAGGAGTTGTGGTAGGAAGTCTGTGCTGTTGAATGTAC +ACTAATCAATGATTCCTTAAATTATTCACAATAAAAAAAAAGATTAGAATAGTTTTTTTA +AAAAAAAAGCCCAGAAACTAATCTAAGTTTTGTCTGGTAATAAAGGTATATTTTCAAAAG +AGAGGTAAATAGATCCACATACTGTGGAGGGAATAAAATACTTTTTGAAAAACAAACAAC +AAGTTGGATTTTTAGACACATAGAAATTGAATATGTACATTTATAAATATTTTTGGATTG +AACTATTTCAAAATTATACCATAAAATAACTTGTAAAAATGTAGGCAAAATGTATATAAT +TATGGCATGAGGTATGCAACTTTAGGCAAGGAAGCAAAAGCAGAAACCATGAAAAAAGTC +TAAATTTTACCATATTGAATTTAAATTTTCAAAAACAAAAATAAAGACAAAGTGGGAAAA +ATATGTATGCTTCATGTGTGACAAGCCACTGATACCTATTAAATATGAAGAATATTATAA +ATCATATCAATAACCACAACATTCAAGCTGTCAGTTTGAATAGACaatgtaaatgacaaa +actacatactcaacaagataacagcaaaccagcttcgacagcacgttaaaggggtcatac +aacataatcgagtagaatttatctctgagatgcaagaatggttcaaaatatggaaaccaa +taaatgtgatatgccacactaacagaataaaaaataaaaatcatattatcatctcaatag +atgcagaaaaagcattaacaaaagtaaacattctttcataataagacatcagataaaaca +aattaggaatagaaggaatgtaccgcaacacaataaaggccatatataacaagcccacag +ctaacatcataatagtaaaatcatcacactggtaaaaaaaatgaaagcttttcctctaag +gtcagaaataatataaaggttcccactcttgctatttctattccatatcgtactaaaagt +cctagccaggacaattagacaaaataaaaataaaaacacccaaattggaaagatagaagc +aaacttttctgtttacagataacataatcttatatgtagaaaccccttaaaacttcagca +aaaaaaaaaaaaaaactacagagctagtaaattcagtgaagttgcagaatacaaaatcaa +catacaaaaatcagtagtgtctctatacactaataaggacttaacagagaaagaagttaa +gaaaacaataccactaacaatagaatccaaaaaataaaatacttaggaataaattttacc +aaacatctgtacactaaaaactataaaacattgaaaaaagaagttgaataagacacatat +aaatagaaagctatctcatgttaatagattagaaaaagtaatattgttaagatgtcctca +ctacttaaagcaatttatagatctaatgcatttattgcaatctcttcaaaatcccaaagg +tatttttgacagaaataaaaaaaaaattctaaaatatgcatgaaaccacaaaagactgtg +aatagctaaagcaatcttgagcaagatgaacaacactggaagcatcacactaccttattt +caaaatctactacaaagctatagtgatcaaagcaacatgatactgtcataaaaacacaca +gataaacctatggaatggaataaagagcacagaaataagtccacacatttacattcaatt +gattttcaacaacaatgtcaagaagacaatggggaaaagacaatctcttcaataaatgat +gctggaaaaactatatatccacatgcagaagaatgcagttgaatcctgatttcataccat +atgcaaaattcaactggaaatggattaaatacaaatttaaaacatgaaatggtataacta +ttagaacaaaacatagaaaatattcttcctgacattggtttgggccatcatttttctgat +atgactctaaaagcacaggcaaaaaaagaaaaaatagacaaatgagactatgccaaatta +aaaaatttctaacaacaaaagaaacgatcaatagagtgaaaaagataacctcttgaatgg +gagaaatatttgcaaactactcatccaaccggggattgatatccagaatatacaagtaac +acaaatatgtcaaaagtaaaataaataaataaataaataaataaataaattaaataaatt +atttaaaaatcggcagaggacaggaatagacatttctcaggagacaacatacaaagggcc +acagatacatcaaaaaatgctcaacatcactatttgtcagggaagtactaattaaaacca +aaatgagatgtcccctcaaacctgttagaatggctattatcaaaaagatgaaagatagca +actatcagagaggatgatagaaaagggaacccttgcatcatgtacaaattaaaaatagaa +ctatcacatgatccaagaatcctacttctgggtatatagccaaaggaattgaaatcaata +tgtcaaagggatatctgcactcctatgttattgcagcatgttcacaatggccaagatata +gaatcaacctaactgttcatagacagatgaatggataaatgaaatgtgatatggaaaatt +attcagccttaaaaacagtaggaaattctgtcatttgagacaacgtggatgaacctagag +gacattaagctaagtgaaataagctagacacagaaagacaaatattgcatgatctcactt +agaatctaaaaaatctgaactcatagaagcagagaatagtatgatggttactagggttat +ctggcagggagaggatgaggaaatgggacattgttaataaaaggaaaaaaattcaattag +taggattacattcaggggacccaatatacgacatgttgactgtaattaataatgtattgt +atgcttgaaaattgctaatacagtatattgtaaatgttaatatgaggtaatatatgtgtt +aattaacttgatttattcattcaacaacatacacatatattaaaacatcacactgtattc +cacaaatatatataatttttgtcaattaaaaaaTAATTTTTAAAAATGAGAAACAAAAAA +GCTGACATTTTCAGATTAAAAAAATTATACAGAAGAATTAATTCATTAAAGTAAAAACAA +ATGTGGGAAAATGGTTTTTAAATATAATTTAAACCAAATTTAAAATAAGCATATaaagac +tatggacaaaacaagaaatccaaataaaaaataaacatatgaagaatattcaaactcact +ttttatcaaagaaatgtaaattTTAAAATATAGCATTGCTATTGTGTTTTCATAAATAAT +AATATATCATGGATGAGCCTGTGAGGAAACAGACACTCATACTCTGCAAAGCAATGACTA +Agataattatgtcagatcatgaattacgttaattagcttgatggtggtcactgtttcacg +ataaatatacatatgtatcaaaacatcacattacacaccataaagatatataacttgtta +tCAAAAAGAAATATAGCAGttaaaatttaaaatttttaaaaaaCGTCTTTTTGAGGTTCG +TACCTCACTTAAGTCACACTGTTCAAAATATTCATGCACTCATTTCTCTCATTCATGTGT +TAATGTACAGGGTACGGGCCACTATAAATTCCTTCAGCAACTGGAAAGGAAACTTTATGT +ACTGAGTGCTCAGAGTTGTATTAACTTTTTTTTTTTTTtgagcagcagcaagatttattg +tgaagagtgaaagaacaaagcttccacagtgtggaaggggacccgagcggtttgccCAGT +TGTATTAACTTCTAATTCAACACTTTAAGATTCTTAGCATTATTGCAGACAACATcagct +tcacaagtgtgtgtcctgtgcagttgaacaagatcccacacttaaaaggatcctacactt +tttttaatgctctgctgtttctgccttgaaattcttaacaatttttttaaccaaagtcct +cacaaattcagtttacattagccctgcaatcatgtagacatcctgATTCCAGACAATGTG +TCTGGAGGCAGGGTTTACAGGACTTCAAGAACCTTACCTTCTCAACTTTCATCTGCATCT +TTACTCCCAACTATATATGAAGATGATGAAGATAGATATGGATGGTGCTTCTACCATACC +CTCTTCCTCTGCCAAACTTCCTTGATCTAGGATAAggtcagtaaacttcttccgtaaaag +gccaaaagtaaatattataggctctacaggccctagagtgtctgtcataactactcaact +cttattgtagcataaaaactgtcaacagacaatacagaaacaaatgagtgtgactgggtt +ccagtgaaactttatttacaaaagatttgtcccatgagtcaaatttaccacctccAGATC +TAGAGAAACAGTTTTGAGCCCTTTTATTTTGCTCAACAGTTAAGCATGGCTCCATGTCCC +TTATATTTAGTCAGAACTCGGTATGTTTTAAGGAAAGAATGGTTACACGAAGACATACAT +TCATTCATTTATACAACACATTTTCAGTGTTGAATGATAAATTTTGGAATAGTTAACAGA +TGATAAAAGTGTTGTTTTCAGTCATCCCTATCCAATGAAGTAAAAAAAAAAGTGTTGAAT +GGGAAGAAATCAAGAATAGTTATACGAATATCACCATTGCATTAAAGCTCTCTTCCTTGT +TTCTAAAAGAATATCTTGACACACATTAAGCTCACTGACCCCCACACCATGAATGAGGGC +ATCTTCAACAATGGTGGATGACGTCTTAGTTTCCCTCAACTCAGTTAATCTAAGTAAGCT +CATGGTATCACTTTCCTGTCCTAGAGGGAACATATTTCCTGCATTTTTCTTTTTTTCCTT +ACTTTCCATCACCAAGTAACTCTTCTGATATTTTTTCTCTTGAGAAAATTAATATGACTC +ATAGATCTGGTTCCCAAGAGAAATCAATGGAGGCCTGGTTACAAGGATCTAAGAAGCATC +AATGGGTCACTAACATCTAGTGGTACTAATTAACTCTGTTAATCATTGGGAAGAAAATGT +ATATATACTTTTGTCTTGGAGCTGATTCTACTAGAAAGCAGAAATCAAAATGATCAGTTT +CCCAGTGTCACTACTGCACACCCTGGAACAGAACAGGTAGGTCAGAAAAACGCTCCCAAA +GTTTAGCAATGTCAAGGCAATCTCTCTCTTCTTACATTTCCCTTCAACCTTCTATCTCCT +CCACTTTTCTGTTTTCCTCCTATCTCCAATTATTTCAATCCTCAGAGCATTATTCTTACA +ATCTTAATCACTAAATTATATTACACCCGTTAAAGGAGAGATTTCTAAATGCATTGACAT +TTGTACTGTCTCTCTTTGGAGAATTAGTATTATAAGGATCTGTTATCTCTTGTCACCTTC +CTTATGTCATATGATATGTCACATTTCCCACTGCGGAGACCAAACATGTTCACATCGTGT +GCGTTCCATTTTCCTAATGGAAAGTGGGGGGAAGTGATTTTCTGTCCTCATATAGAGAAT +GCTGGGGCCATTCCCTCTGTATGCCATATTTGATAAAGCATTTGATAATCTTAGTCAATG +CCTGGGCCAAGAATTAAAGGGGTAATTATCAGAATGAAAATGGTTTAATGAAACTGTGTC +TATCAGTTCTGAAAAGGGCCTCTATCACAATGAACTAAGGTAGTTATGAATAGAGCTAAa +acttaggcaacaccatcctggacataggaacgggcaaagatttcatgacaaagacacgga +aaccaatcacaacaaaagcaaaaattgagaagtggaatctaataaaacaatagcttctgc +acagcaaaagaagctaccaacaaagtaaacagacaacctacagaatgggagaaaatattt +gccaactgtaagtctgacaaaaatctaatatctggcagctataaggaacttaaatttaca +agacaaaaacaaccccattaaaaagtgggcaaagaacatgaatagacactctcaaaagaa +gatatacatatggttaacaagcatatgaaaaaaaagctcaatatactgagcattagagaa +atgcaaatcaaaaccatattgagatatcatctcataccaggcagaatggctattattaaa +aagtcaaaaataacagatatcggtgaggttacagagaaaagggaacacttatacactgtt +ggtgggactgtaaattatttcaaccattgtggaaagcagtatgggatggcgattcctcaa +aaagccaaaaacagaactatcattcaacccagcaattccattactgggtatatacccaga +agaatataaatcgttctaccataaagacgcatgcatgagaatgttcattgcagcactact +cacaatagcagagacatggaatcaacttaaatgcccatcagtaacagactggataaagaa +agtgtggtacagatacaccgtggattactatgcagccataaaaaagaacaagatcatgtc +tttgacaggaacatggatggagctggaggctactatccttagcaagctaaggcaggaaca +gaaatccaaataccgcatgttctcacttatgagcgtgagataaatgatgagaacttgtaa +acacaaagaaggaaacaacaggcagtggggtctacttgaggacgacgggaagagggagag +gagcagaaaagataactactgactaccgggcgctacctgggggatgaaacaatctgtaca +acgaacccccaggacatgagtttacctatgtaacaaaccttcacgtgtacccccgaacct +aaaataaaagtcaaaaagaaaAAGAAAAAAAGAAAAATCCATGCATATGATACATCAGTT +AACAAGGCACTGGTGAAATTAATTTTAAGTATTATTGTCTCTTTGTGTTTTTGGTCTCAG +AAAAGTTACGATTTCCCTTAGTTCCTTAGGGCAGAGAGAATCTTCAATCACTGAAGTCAG +GAGACACACATTCTATCTGATTTTCTACATTATCTGTTTGAAAAGGTTACCCACTTATTA +GTGTTAAAGCCAAGATATCCAGCAAGGATAGCAACCAACTCTTAAGGTACTCTCCCTTAG +GAGGATTCCTGATTCTTTAATGTTTTCTAAAAAAGCAAAACAAACAAACAAACAAAACAA +AACACTAAATGTTTTCTCTTTCAACTTATTTGAATACACTCTTTTCTCACTGCTCTGAGC +ATGAATTCAATATTTCAGGGCAAACTAACTGAATGTTAGAACCAACTCCTGATAAGTCTT +GAACAAAAGATAGGATCCTCTATAAACAGGTTAATCGCCACGACATAGTAGTATTTAGAG +TTACTAGTAAGCCTGATGCCACTACACAATTCTAGCTTTTCTCTTTAGGATGATTGTTTC +ATTCAGTCTTATCTCTTTTAGAAAACATAGGaaaaaattatttaataataaaatttaatt +GGCAAAATGAAGGTATGGCTTATAAGAGTGTTTTCCTATTGTTTTCAGTGTAGGACTCAC +TGTTCTAAATAACTGGGACACCCAAGGATTCTGTAAAATGCCATCCAGTTATCATTTATA +TTCCCTAACTCAAAATTCATTCACATGTATTCATTTTTTTCTAAACAAATTAGCATGTAG +AATTCTGGTTAAAATTTGGCATAGAACACCCGGGTATTTTTTCATAATGCACCCAATAAC +TGTCATTCACTAATTGAGAATGGTGATTTAACAAAGGATAATAAAGTTATGAAACCAATG +CCACAAAACATCTGTCTCTAACTGgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtAAGA +GGGAGAGAGAGAAAATTTCACTCCCTCCATAAATCTCACAGTATTCTTTTCTTtttcctt +tcctttccttgctcttctttctctcctattgctttcctttcatttccttCTCATAAAAGA +AAAATAACAATATAGAAAATAACAAAATATAGATGGTCAACCTTTTTAATATTAAGGTTA +CCTAAAATGCCATTATCCAAAGTGGTTCTCTAGAGATGCTGATGTATATACTTACATATT +TTACAGTGTATTCAAATAAAGAGTATATTACATAAGACATATCCTTTTGTAACCAACTTT +TGTCATTAACAATTTACTGGACTTGTCAACAAACCTAAATCTGTATCGTCTATAATGGCT +ACGTTCATTTTGGTATGAATCTTAATTACCCCTTTCTGCATTATTTAATGATTTTCTCAT +ATGTCACTCTTAAATGTACTTCTAATTTTTCACTTTACATCACATAATGAATGGATCCAA +ATATGTTATGGATAGATATCTTCAAACTTTCTACTTACAAGTAGTGATAATAACAGATGT +TCTCTCTAAAGTGTAGTTGGTATCAATTTTACTGACCTTTAAAAATATCTTAATGGGACA +AAGTTCAAATATTTGATGACCAGCTATCGTGACCTTTATCTCTGTGGCTCTGTGGGCCTG +TAGTTTTTACGTGCTTTTAGTGTATCATGATTAAATATTTTGTTTTAGTAAAGACACCAT +TATTTCCCAACTTCATATTCAAATTGTCAAAGGTATTAATCCTAGAGCAGAACTCTCAAA +AGCACCAACTCTGATTCCTAACAAAGCATGGAAAAGCCCTCTCTCTGAGTTTCAGATACT +CTTTTTTGTGGGGGTTGAGTTTCACTTTATTTAAAGTGAGTCTTAATCCTCCAACAAGTC +AACAAGTGATTGGCTGGAATCACACGTATTGGAAAACCAGCGGAAGAGTAAGTCTTTGTA +TTTTATGCTACTGTACCTCTGGGATTAATTGCTCTTTCCCTCATTGGCCAGTCACTCTTA +GTGTGTGATTAATGCCTGAGACTGTGTGAAGTAAGAGATGGATCAGAggccgggcgcggg +ggctcgcgcctgtcatcccagcactttgggaggccgaggcgggcggatcacgaggtcagg +agatcgagaccatcctggctaacacggggaaaccccgtctccactaaaaatacaaaaagt +tagccgggcgcggtggcgggcgcctgcggtcccagctgctggggaggccgaggcgggagc +atggcgggaaccgggaggcggagcctgcagtgagccgagatggcgccaccgcactccagc +ctgggcgacccagcgagactccgcctcaaaaaaaaaaaaagaaGATTGATCAGAGAGTAC +CTCCCCTAAGGGTACATGCAGATAAATACAGTTAAGGCGATTAACATTTCAAATACGGTG +ACTGTTTCTTACGTGGACGACGTTGTGTTGAACATGGGTGAGTAAGACTGAAGCAGCCGT +AATTACTGCACGATGCGCATGGTAAAGAAGCACTCCGTTAGGGAAATTATATTCTTTGCC +CCTCTAATCCTTCACTCCACCTGCCATATTCCCACATGATTTTTTTCTTTGCTGTTCTTG +TCTAATTGttattaataattaataaataaCTTATGATCTAATTGTTATTAATAATAACTT +ATCATCACATGatttattaataaattaataaataacttattatCACCGCATTTCCCCAAT +TCATTTATCTTTCTTTCATTTTCTCTCTTTGTGTGTTTTCTGTCTTCATATTTCAGCACT +TGCCACATATTTCCCACAAAATCATTTATGGTCAAACAACACTTCAACGTGTAGCATTTG +TATTTCTCAATTCTTCCTCACTTTCTTCCTTCAGAATACTAAAGCTTCTTCTCTACTGAC +TGAGTCAATGGCCAATGGATAGAGTAAATAATTCTGCGGTATCTAAATTTGTATTGATTG +GACTTTCAAGCTCTTGGGAGATGCATCTTTTTCTTTTTTGGTTCTTCTCTGTGTTCTACA +TGGGAATTATCCTGGAAAATCTCTTCATTGTGTTCACAGTAATTATTGACTCTCATTTAA +ATTCCCCAGGTACTGCCTACTGGCCAACATTTATCTTCTTGATCTGGGTCTTCTCCTACA +GTTCTGACTTTTTCACTAACTGCAGCATCATTTCTTTTCCAAGATGCATCATACAGATAT +TTTTCATTTGTGTCATGCGTAAAAATTGAGATGGTGCTGCTCATAACCATGGCATAGAGC +AGGTACACTGCCAATCTGTAAGCCTCCCCATTACCTGACCACAATGAACCCCAAAATGTG +TGTTTCCTTTGTTGGAGGCATCCTGGATAGTCAGGATAATCCATGCTGTATCTCAGTTTG +TTTTTGCCATAAACTTGCCTTTTTGTGGCCCTAATAGAGTAGGTAGTTTTCACTGTGATT +TTCCTTATGTCATGAAACTTGCTTGTGTAGACACTTACAAACTAGAGGTTGTAGTCACTG +CTAACAGTGGGCTTATATCCATAGCTACCTGTTTCTTATTAATAATATCCTATATTTTCA +TTTCGGTAACCGTCTAGAATCCTTCTTCAGGAGACTTATCTAAAGCATTTGTGTCATGTT +AGATCACATCACAGTAGGGATTTTGTTTTTTATGCCATGTATATTTCTGTATGTGTAGCC +TTTGCCTAAAACAACACATGATTAATATTTGTTCATTGTTCCTTTTGCTATCACCCCTGT +CTAGGATCTACACATTAAGAAACAAAGACATGAACGTCTCCATGGAAAGACTGGGAAAAT +GGATTGCAGGTTCTAGCAGGATGTCATAATAAATGGTGCATATCCAGAGTGCAAGATGAT +TCAGTCTCACCAAGAACACTGAAAGTCACATGGCTACCAGCATTATTGTGATAAGAACTA +CTATTTTGGGAGATAGTTTAGCAAAGGTGCCATGTAGAAATTGATTAAGTCAGAGGTATC +TTTAACTTGCCACCACAGAGAAGAGATTAATTTCATATACTTCCATTGAGAAGAGAGATA +AGAATACAAAACCAAGCTGATTTGCAGGAGTAAACTTGATATTCAAATACTATTTCCTGA +ATGACATTTTCTGAGACATGCTAATTGTAATTACTTTCAGCTTCAAAACATAATAAATTT +ATCTCATAGTAAGCATATAGATGGAATAAATAAAATGTGAACTTAGGtaaattataaatt +aataaagtatatttttaaaatttCCATTTTAATTTCTGTTTAAATTAGAATAAGAAACAA +AAACAACTATGTAATACGTGTGCAAAGCCCTGAACTGAGATTTGACTTTACCTTGAGCTT +TGTCAGTTTACGATGCTATTTCAGTTTTGTGCTCAGATTTGAGTGATTGCAGGAAGAGAA +TAAATTTCTTTAATGCTGTCAAGACTTTAAATAGATACAGACAGAGCATTTTCACTTTTT +CCTACATCTCTATTATTCTAAAAATGAGAACATTCCAAAAGTCAACCATCCAAGTTTATT +CTAAATAGATGTGTAGAAATAACAGTTGTTTCACAGGAGACTAATCGCCCAAGGATATGT +GTTTAGAGGTACTGGTTTCTTAAATAAGGTTTTCTAGTCAGGCAAAAGATTCCCTGGAGC +TTATGCATCTGTGGTTGATATTTTGGGATAAGAATAAAGCTAGAAATGGTGAGGCATATT +CAATTTCATTGAAGATTTCTGCATTCAAAATAAAAACTCTATTGAAGTTACACATACTTT +TTTCATGTATTTGTTTCTACTGCTTTGTAAATTATAACAGCTCAATTAAGAGAAACCGTA +CCTATGCTATTTTGTCCTGTGATTCTCCAAGAACCTTCCTAAGTTATTCTACTTAATTGC +TTTATCACTCATATGAATGGGAATTTCTTCTCTTAATTGCTGCTAATctcccccatcttc +aaatactctaccgggcttctggaacaccacagcttcctggctttttctcctacctcctgg +gcaagtccttccctgtgtcttttgttgagtgttcctcatctgcttaactaccaatcaacc +tattgcccctaatttgatctttggcctgttttcacttagattctatccctacgtatcacc +cattcccacagctttaatcaccatctaaacactaggggctctcaaaccttgtatttttct +ttctttctttctttctttctttctttctttctttctttctttctttctttctttcttcct +ccttttctttccttttctttctttcattctttctttcttttttaaggggcagggtctcac +tatgttgctgaggctggtctcaaactcctgacctcaagcaatctgtctgcttcagcctcc +caagtagctgagaatacagggacaagccattgcacctgaccctggtactatttcttgagt +tcctgatccacagatctaacctcctactttcctggatgccacacaagatcttccactcaa +caagtctgcaactaaactagccttcctcttttcaaacctactcttctttcagtgttctca +gtcacaataatttgtaccaactagttacctagttgcacaacccaaaatctgggaaaaata +atagatttctttctccatagtacccccaaatcaataaatcatcaagtcttattctacctt +ccaaagagccttacatatgttcctttattttcatctgtaacaccactattcctgtctaag +cctacctatgtcatttttggaagagaatatagtcacctatgcgaccttcccacttaaaat +cctactatttacgcttcagtaaaagaaaaaaaatttttaatctaagtatgtaattctttt +gctgaagacacttcacttgcttctgtgcccttaaactggtatgttatcatggtatagtag +gccatccaagacctggcttccttcctttttttcagtctcagagaataacatactctttcc +ctgcaactccagatccaatttggttttcttttacttgcctggaaactccaaaatctatca +actctggggctttccactagctaatcattttgtatacaatatttgtccttcATGTTTTGC +CTCTTAACATCTCAGCTTTCAGTTTCATCATTTTACCAGGGAGGCCTCCCAGAACCTGAG +TCCAGAAGAGTTCCTTCCATTGTATATTCCTCTAGCACTACCTATTACCTCTTTTGTAAG +ACTAACAGCCCTCAAAATTTTTCATTCAGTGATGTCTTCCTCATTGCATTTTAAGTTCAA +CATGAGCAGGACTTTGTCGTGTTCACCTCTATCACATCATAAATATAGCAAACAGTAAAA +CTATTGCAACATGACTAATGTATTGAACGATGCTTCAGCTTTCTTCTTACGTTCAATCAC +AGGTCATATGACTAAAGAACTTCCTTTTTAATCTCCTTTTCTATTCTCAATTAATTTCTT +CTGCCTGCATCACCTCAAGTCTCTGGGGTGAAATCCACTAATGAATTCCTTTTGCAGCTT +AAGCCAATTCCAATCTTGAGCCAATCTCAGGTGAAGAAGCCTGTAAATTATCACTCTCAG +TCCTCTCTTGTACTACTAGGTCTCATGAACTCTTCATTAACAACTCCAGCTTCTCTGTTA +GCCCAAAAGCCTTTTGCTGCCTAGAAAACCCATGATTCATGCCTCAGGAAACAGCCTTCA +AATCACAACATGTTCTGTATCTGGCTGGCCAACTCCCTGCAACTTATTTCTGCCTAGATT +CTCCCTCATTCATTTCAATACGCTGTTCGGCCTGCTACCCCAGTTTCCCACTTAGAACAA +TGGCACACAGGACAGGAGCACATTGGCACATCAGAATGACTTATGTACTGCTCATTGTGT +TGCAGAAGAGACCTCTGTGGGGGCAATAGAACAGATTTTCCTCTCACGTCACTGTAGTTG +TGGTTTCCCTAAGCACCTACACTGTTTCACCTCATCTTAGGTAGACAATAATCCATGTAA +CTGACTGTGTATCCTAATTTTAAAAAATATTTCTGCCCACATTATTCTGCAGTTTTTATC +TTGCTTACGTATTTTTGGAATGTTACTATTTTTCAAAAATTAATTTGGGATCAACCAACA +CTTCTTATTCTGCTGCTGTTCTAGAGAAAATCATTTTCCTCATTTCTGAACAAGAGAAAA +TGAAATACAGCTCTAAACAAATGCCACTGTAAACCAAGGTGGAGCCTTTGCACTTTCAGG +CCACCATGATAACCTGGAGATTAGATTTTTCTGTGTCTTTATATCAATAATAAAGCCAAG +CTTCTCCAGGGGTATCCACTAGGCTTGTCTCAATGGCTCAATACAGGTCCTTTTGTGAAT +GATTACCTCACCCTCATGGAAACACACTCTTGTTACAGAAACTCAGAATGATTCTATTTT +TTCTTTTATATTTGTATATGTTTTTCCAATACCTCTGAAAAAACTGATCCAAAAAAAATA +CAAATTTTAATTGTAGCCAGTCAATTCAGGAAGGATAAAGGTCAAAAACTTTCAAAGAAA +CCTTCAGCCCCAACACACTAAACTTTGGGAGCACAGGTTGGCATCCAGAGGTAAACATTT +GCTATAACTGATAACAGGAGAAGGATCCATTTATTCACCTGTTATCAATTACAGGCATTG +TATTTAAAGATCAGATGTTTTATATTTATTTCTTCAAATTTCATTCATGGTGCCATAAGT +GAAGGTATCTCTGTCCACCCTGAATATATTTTCACTCCCTCATCTCAGTCATTCCGAACA +ATTCACACACTAAGATTACCCATGCTAAATGGGGATTCTTTTTTACTAGCCAATGTAGTA +CCTCAAATCCTTCCTTCCCTCCCCCTATTTCATCAGCAGGCAATTCTTTTGATACTTTTG +TCAAGGGGAAATTGTGTGACTCAGAGATCTAGTCCCCAAGAGAAACTAATAATGGGCTGG +GTATTGTCTGTCTCAGCAGCATCAGTGGGTCCCTCTCCTGTGCAGCTAATTAGCTTCCTT +TCCAATATGAAGAATCTTATATATAGCTTTGTCTTTGGGGTATTACATAAATGAAGATTA +AGCTATCTGAATTTCTCCTTCTCCTAAAAATGCACATCCTATGACTGAAAAGACAGGTAA +AAGAGATGCTTTTAATTACAAAACTTTCCCTGTCGTGGTTGCTTCTCTCTATCCTTCTAA +ACTCCCTTTCAATTTCTTCTCTTCTGTAACATATTTGTGCCCAAAATCTTCTGCTTTCTG +AAATATTTTATCTTTTTCTTCCACACTATCTCTTATTTTCCAATTTTAATCATTAAATTA +TATTATGTCTTATAAAACTAATCCCACATATAAACCCCTATGATAATTTCAGTTTGTCCC +TAGTATGAAGTTCTTTAAAGATGTGTAGTTTTCTAACTTTCATGCTCTCCAATTAATTAT +AAACTTCATTTTCCACTCTGAAAAGGAGATGTCTGATCTCAGCTATTTCCATCCTATTTG +AAAACCAGATTTAGTTTTAAACCAGAGGAAGGGAATCTCAAGTCTTTACCTCCCACAGTC +TGGTGTGATTCTCTCTCTTTTGGTATTACCTTCCTCCACATTGGAACACTCCAGCCAATG +CATAGGCTGAGAGGCTATCTCAGATTCAGAAAGATTTGGCCTCATCCCAGGGGAGGGTAC +AGAGGAGCTGATGACTATGAATTCTGAAATGGAACTGTTCCAGGTTGAAGAAATAAGAAA +GGGAATTGGGAAGAGCAATGCCCAGTGAAAAAGAAGAAATAATATTTTAGGAAGTGAATG +CTAATTTTATTTTAAACAAAATAAGAACTCAAGGAATAAGAGGGTTCTTCCAATAGGTTA +GAGTGATCCTGTCAAACATATATGCTTCTAGATTTTTTTAAAGACTGTTTCTACTAAGAA +AGCATAGACCGCTATTGAGAAAGATCATTAAACTGGAATTTAGGAGGTCTGCCTTCTGAT +TCTGACTTCTTGAATGTATTGTTAGCCATTTAACCACACTGTGTTGTTTCTCATTCTACC +TGTAGAATCTCAAAGTTCTTTCCCACTTCTATACAAAACTATAATTCTGAACATCCTTTT +TGTTTAATATAAGTCTGCATTTCCTGTTTGAAGATATGTGTCCCAGACCCTAAATGACTG +ACAAATTTTAAATCTCCAATAGGAAAGATGACAAACTCTATGGAAACTTGGCTTCTGAAG +AACTCCTAGAAGCTTTCCAAAGTCATCAGTGTTTCCTAAGAAGGCAGAGAAATCAAACAC +ATGGTCTTTTCCTCCAGACAAGCTCCTTTGGGTCATCAGGATTTCTTCAACAATAAAATG +TAATAATTCCAAATGTTTGTAACAGAATGGGTAGGACTTTCTTCACTTATTTAAATACTC +CCTTTTTTATGCAACTGAGTTTTCATCAACAAGTACAAGCTTGTGAAGGAGTACTTTAAA +ATGCAATTTCTCTCTATTTTTGTGGGGGCTAATATTTTATTTCTCATATTGACAATTTAT +TATGCTGTTTTTAAAAAGttcattcatcaagtatttcttgagctttttctatgagacagg +cactgttttaggcaagtaattatgcactgaacaatgcaaaaagtttccctgcactcatgg +actttaattttaCATTTATGAAAAGCTACAAATATTAGAATAAGTAAAATACTGCCTGGA +GGCTAAAGCATATTTTGATCACTTATTCCCTAATTCTTTTAGAAGAGAACTCACCTGTCG +GTTAGCTGAACCACTGCCAGTGATATCCAACTATACATTCAATCCCACCATACCTCATTA +TCACACCTATTCACTCACAAGCTTAAACTCTTAACTTTTCTCCACATATCAGTGACTATT +TCCTACAGCTTTTCTTTTACTTTCCATGTTTGCAGTGACAATATACATAAACAGTGTATG +AAAACTCAAGTAAAATCTACTCTCTCAGGTGTTCATAATGTATCAATGTATATTGCTTTA +AGCCTGAAGGTAACCTAAGTAAAGATGTACCATGTTCCACCAATGCTTCTTTTGATCATC +ATTTTATCCTGTTTTTTCTTTAGGATTCTTTCTTATTCCTTCCCCTGACCCTTCTTTTAT +TCTCCAAATTTCTTTCCAATTCATCTTTGTTCTTCCCTTTCCTTTTTACTCTCTTTAAAC +ATTCTATGGACTCTGCCTCCTTCACACTGATATTGAACGCCCATAGTTTCATATTTTGGA +TTGCGATTGTTTTATTTTAAAATGGCAAATGTTCATGTTATAAAGAGAATTTTTCAGTCT +TTAGACTAATAGGTTCATGTAGTTTGGGATTTTCCTCTTTAAGAAAATTAATTATCACTC +ACACTCCAAGACAAACACCATTTCAGTAGCAATATGAATTTCAGTAGTAATAGGAATCTC +CAAATATGACAAAGTAATTCAGACATTAATTGCTTTTGTTTTGGAATTGCTCTTATAAGA +TGAAATATCACTTTCATGATGAGAGTCCTAGAGTGCTTGGTTTATATATTGTATCTTAGT +TTTAACAGGATAAAACACTTGATCCTAAGCAGTAAACATGATTCTTCAGCTTCAACTTCA +TTTCTTTATAAATAACTATTTATGAATTGGTGTTGAGCTTAGTAAGTCACCAAACACCTT +CTGCTCAGCAGCATAAAGGACATTTCCATGAAACCTCCCAGGGATAATCTTATTTACTCT +ATAATGTTTCCCGGGTTCAATTCCTCTCCCAAAATTCTTTGTTCTTAAGCCCCTATGATC +TGGGTGATCTAAATATGGGTAAGAAGTCCAGGGATAGCACTATGAATGAAGTGAAAATAG +TAAAACATAGTTAAAAATGTAcagatgctctctgacttataatagggttacgtcctgata +aatccatcataagtcaaaaatgcatttaatattcctaatgtacctcacatcatagtttgg +cctagcctaccttaaatgtgctcagaacactttcattagcttatataagatcacctaata +caaagcctattttataataaaatattgaatagctcacgtaatatactgactactatactc +aagtacagtttcttctgaatgcatgtcactttctcaccattgtaaagtcaaacaattata +agtcaaactatcacaagccagggaccatcCATATGTATTTCATTCAGAAAATGCTGGAAA +GAGCATTTCGGAGAATATCTAGATGAGAGAAGGTAGAAAGCCATGCACAAATTCACTGAG +AGTTTAAAAAAATACATGCATATTGTGGAGATAGAAATCAAATCTATTTGTCTCCATCTG +CTGTATTCTTCCCAAAATATTATCTCTTCTTATCCCATTGTACTATATTGCATTTCTTTG +ACCATTTATTGTGTATCTCTTAATATTTCCCACTTCATCATTACTAACCTCACTCACTCT +GAACTTGATGAGAGCACCTGAGCATTAATTTTTCTTATAATTATTTAATGATTACCAGAA +TTCGTTCAGTATGGCCAGCTCTGGTCAAAGTGAGGCAGGCAAGATGCTTTGTCAACTGCC +TGGATGGAATGTCTCAAAAGGTTTCCATTTCATGGTAGCATTATGCAAAGTTCAAGACGT +TTAATCAAGACCCTTCACTTACTTAACTATACCTCCTTGAGAATCCCATCTATGAAAAAA +TTCTAGTCATTATAAAAATGATTGATTAAATGAGGGAAGTAGTAGAGTTCTTCATTTCTT +TAGTTGGTTTAGTCTCCTATGAGTCAATCCTATTTTCAAAATTCTTAATAAACCATTTAT +TCCTTCAACTTTCTATGCCATTTGATGTTTTGTAAAAAAAAAAATATAATATGTATACAA +AAAGATATTTCAAAATCTAGAAAGAGAGCTTTAGAGCTTTGTAAAGCTCTTTTAAAAATC +AAAAACAACTACTGTTAATTAACATGTTGTACTATGCAATTTGTTTACCATTATTACTCT +TGGTATTTTTAAGAAAAGTCTTTCCATTGTTATTATAAATGCTTCTATTGATATTTATTT +TAATAACTGTTATTACAGTCCGTCATGTACATACACTATACTTAAACCTAATGTTTGGTA +TTTAAATCGTTTCAAGATTTTATCACTGTCAACAAAGTATGATGAATATTTTTATGCTGA +AAACTTCTGTAAAAatagaattccaagagtattattgcaccaaaaggcatggacttaaaa +ttcttgatacatgatttcaaaatattttctttaaggtttgaatcagtctatattccctcc +agcagcgtataaaagtgccaatttctctgatccttaGCCAGTTTGGGTAATAATAATTGT +AAAACttttttttctttttttttgagacagagtctccctctgtcgccaggctgaagtgca +gtggcgcaatctcggctcactgcaacctccgcctcccggggtcaagctattctcctgcct +cagcctcccaagtagctgggactacaggcatgcaccaccatgcccagctaatttttgtta +tttttagtagagatggagtttccccatgttggacaggatggtctcgatctcttgacctcg +tgatccaccctcctcggcctcccaaagtgctgggataacaggcgtgaacaaccatgcccg +gccTGTAAAACTTTTTCCTAATTTAACAGAAAAATAATAGTATTATATTTTATCATATTT +CTTTGATTTCTAAGacacacatacacacacacacacacaTATCTGTATATACAAATACAC +GTATAGCTTACATTTTAATTCTTCATTTCATTTGTTCATTTATTAGGTCTTGGAGATTTT +GTGAAACTGTTTAAATTCTTTTTTATACTATGAAGATATCAACCTTTTGTCTCTACAGCA +TTTCAAATTCAAGTATGATTCACGTGTTGGTTTGGGGTAGATCATTATAGGCACATGTAG +GAAACAGCTTTCAGAGATGCCTTAACCGTAATTATGCATTTGTATTCTAATTTTTATTTA +ATGTTATTATTGATTGCATTTTTAAAGATTCTGTATTTTTTAAACCATTTATTTGTATAT +GTTGGTATACAATCTTGCCATTTTCTGGGATTTCATATTTCCTTATTTTTGTTTTTTACC +TTTTTTGGCTTGAATTTTTTGAGTTTTTATGCATTCTTTTCCAGTTTCTTAAGATGCTAA +TAAGTTCATGTATTTGAGCAATTGAGAACATTTAAAGCAATAGACTGCCTCTGAGCACAG +CTTTGTCCATATTACATTAACCTTTTATACCCTGGGTTCCCACTAGTTTTTAAATAATCT +ACTATCAAATAAAAGATTTGTTAATAATAAATTTTAAATCATTAACACTTAACGCATTAT +TTTCAGTCACACTAAGTTGATTCCTTCGTTTCTTTCAGGTTGCTTCAGAGTCTTCCCTTC +TATCTGATTCAGTGGACCAAGTAAATGACTCTCTGGTAACAGAATTTGTATTACTTGGAC +TTGCACAATCCTTGGAAATGCAGTTTTTCCTTTTTCTCTTCTTCTCTTTATTCTATGTGG +GAATTATCCTGGGAAAACTCTTCATTGTGTTCACAGTGATCTTTGATCCTCACTTACACT +CCCCCATGTATATTCTGCTGGCCAACCTATCGCTCATTGACTTGAGCCTTTCATCTACCA +CAGTTCCTAGGTTGATCTACGATCTTTTTACTGATTGTAAAGTTATTTCCTTCCATAATT +GCATGATACAAAAGTTCTTTATCCATGTTATGGGAGGAGTTGAAATGGTGCTGCTGATAG +TCATGGCATATGATAGGTACACTGCGATCTGCAAGCCTCTCCACTATCCAACTATTATGA +ATCCCAAAATGTGCATGTTTTTGGTAGCAGCAGCTTGGGTCATTGGGGTGATTCATGCTA +TGTCTCAGTTTGTTTTTGTCATAAATTTACCCTTCTGTGGCCCTAATAATGTGGGGAGCT +TTTATTGTGATTTTCCTCGGGTTATTAAACTTGCATGCATGGACACTTATGGGCTAGAAT +TTGTGGTCACTGCCAACAGTGGATTCATATCGATGGGCACCTTCTTTTTCTTAATTGTAT +CATACATTTTTATTCTGGTCACTGTCCAACGACATTCCTCAAATGATTTATCCAAAGCAT +TCTTCACTTCGTCGGCTCACATCACCGTAGTGGTTTTGTTTTTTGCTCCATGCATGTTTC +TCTACGTGTGGCCTTTCCCTACTAAGTCATTGGATAAATTTTTTGCCATCATGAACTTTG +TTGTCACCCCTGTCGTAAATCCTGCCATCTATACTTTAAGGAACAAAGATATGAAGTTTG +CAATGAGAAGGCTGAATCAACATATTTTAAATTCTATGGAGACGACATAACACATTTGGT +TGATGAGAGCACAGGATAAATGCCATGGACCATCAAGACTCCTGTGATCACCATGATCAC +TATGGAACGCGCACATTTTTAGTATTGCCTGAAAAAACTGAAAAATCTGCAAAAAGGATG +CATTAAATCTAAGAATTGTATTTCAGATAAAGTTGCAACATTTTTTGTTAATCATAAAAA +GTATATATTTCTATCTAATGTGTGTATCTAATTAACAGCAATGACTACCTTTAATTTTGA +TGTAGTTATTTTATATCTGTATATAAGCACATACACATATATATGACCTAGGTTTATTTA +TCAGTATTTTTATGCTGATAATAAGCATCACTGGAAATTAATTTTCTTATGGAAATTATG +TGGATCCAATGGATAAAATATGAGTTTATATAAATTAGTAAATGCCAAAATCAAGGAAGA +AACAATTTTTATTTTAATTGTACTTTAAGTTAGATAAATGGTAAGGTCAACAGCTTGTTA +CAACCCTTAAGTATTATTTTCAGGCTGATTGTCAATATGTTTTGTACAatgttctcactt +ataggtgggaattgaacaatgagaacacatggacacaggaaggggaacatcacacaccgg +ggcctgttgtggggtggggggaagggggagggatagcattaggagatataactagtgtta +aatgacgagttaatgggtgcagcacacccacatggcacatgtatacatatgtaactaacc +tgcacattgtgcacatgtaccctagaacttaaagtataataaaaaaaaaTAGACTCTAGT +ACTCTGTATTATGCAAAATTTGTCTATGTTACACTTTTTTAACAACACAATCCTATTGCC +CTTGAAATCTTCTTCAAAGCATTTCTCGAGTCACTCTTAAAAAGCATCTACAACCTAAAA +GTATAGGAAGAGATTTATTTCCTGGAGAAGAGACCCCATTGAGATCTTAAAAGCACATTT +AATGTGCCTGTGCTTAACTTAAGGTGCTTAGGACAAAGAAGGCGATTGACATCTTTCAGG +TAAAACCTGGTAAGTTTGGTGGTCAAGGAACACAACTGAGACATCACTTGGATGTATTCC +TATGACTATTTTAAGAAACATAAATTGTGGTGACTCACTCAGCTCACTTTTAACTACTGC +ATGGTAATTAAAGATGCAAAATAAAATAAGTTACAAGAAGTGAGGTTTTTTATTGGTTAA +AGCAATTTTTCTATATTTTCTCCGCAAGTTGGTCATAAAAGTTCTAAGCATTCCTCTTTT +TATAAAATCGAAGCATTATTACTTACTCTCTTGTTAACCTATCTGGATTTTAATTTTGTA +ACTTTATTATATTTGTTTTGCTGTGATTCTTTAAAAAGCACCTTTAGACTCAGTGAGATA +GCAAAAATATCCAAATAGGCCAAAAAATTGTGGCAATGTCCTCTCACTCAGGAAAATTCT +GTGTGTTTTCTCTAATGGCCAAGGGAAAACTTGTGAGACTATAAAAGTTAGTCTCAGTAC +ACAAAGCTCAGACTGGCTATTCCCAGATCTCTTCAGGTACATCTAGTCCATTCATAAAGG +GCTTTTAATTAACCAAGTGGTTTACTAAAAAGGACAATTCACTACATATTATTCTCTTAC +AGTTTTTATGCCTCATTCTGTGAAAATTGCTGTAGTCTCTTCCAGTTATGAAGAAGGTAG +GTGGAAACAAAGACAAAACACATATATTAGAAGAATGAATGAAATTGTAGCATTTTATTG +ACAATGAGATGGTTCTATTAGTAGGAATCTATTCTGCATAATTCCATTTTGTGTTTACCT +TCTGGAAAAATGAAAGGATTCTGTATGGTTAACTTAAATACTTAGAGAAATTAATATGAA +TAATGTTAGCAAGAATAACCCTTGTTATAAGTATTATGCTGGCAACAATTGTCGAGTCCT +CCTCCTCACTCTTCTGGGCTAATTTGTTCTTTTCTCCCCATTTAATAGTCCTTTTCCCCA +TCTTTCCCCAGGTCCGGTGTTTTCTTACCCACCTCCTTCCCTCCTTTTTATAATACCAGT +GAAACTTGGTTTGGAGCATTTCTTTCACATAAAGGTACAaatcatactgctagagttgtg +aggatttttacagcttttgaaagaataaactcattttaaaaacaggaaagctaaggccca +gagatttttaaatgatattcccatgatcacactgtgaatttgtgccagaacccaaatgcc +tactcccatctcactgaGACTTACTATAAGGACATAAGGCatttatatatatatatatta +tatatactatatatttatatatattacatattatatatataatatatattatataatata +tattatattatataatatataatataaatataatataaattatattatataatatataat +ataaatataatataaattatataaatataatatatattttattatataatataatatata +ttatataaatataatatataaattatataatataatatatattatataatataatatatt +ttattatataaatatatattatattatataatatatattttattatataatatatattat +atatttatagaatataatatatattttattatataatatatattatataatatatattat +atttatatataacatatattattatataaaatatgtataatatatattatataaatatat +ttatatattatataaatatatatattatatataatTCTAATGGTTGAATTCCAAGAATAA +TCTATGGCATGAAAGATTTTACCTGTCAACAGTGGCTGGCTCTTCATGGTTGCTACAATG +AGTGTGTAAGATTCTGAAGGACTCCTTTAATAAGCCTAAACTTAATGTTCAACTTAGAAT +AAATACAATTCTTCTAATTTTTTTTGAATAATTTTTAAAAAGTCAGAAATGAGCTTTGAA +AGAATTATGGTGGTGAAGGATCCCCTCAGCAGCACAAATTCAGGAGAGAGATGTCTTAAC +TACGTTAGCAAGAAATTCCTTTTGCTAAAGAATAGCATTCCTGAATTCTTACTAACAGCC +ATGATAGAAAGTCTTTTGCTACAGATGAGAACCCTCGGGTCAACCTCATCCTTGGCATAT +TTCATGTGAAGATATAACTTCAAGATTGTCCTTGCCTATCAATGAAATGAATTAATTTTA +TGTCAATGCATATTTAAGGTCTATTCTAAATTGCACACTTTGATTCAAAAGAAACAGTCC +AACCAACCAGTCAGGACAGAAATTATCTCACAATAAAAATCCTATCGTTTGTACTGTCAA +TGATTAGTATGATTATATTTATTACCGTGCTAAGCAGAAGAGAAATGAAGTGAATGTTCA +TGATTTATTCCACTATTAGACTTCTCTTTATTCTTAAAAATATTTAAGATCACTAAATTT +TTATAGGACTTTAAAAACAGTAATGTGCTGCTTTGAGTGTGTAGGACTAAGAAATGGGAT +TCAGAGTAGTAAAGAGAAAAGTGGAATTTCCAAGCACTATGAATTACTGTTCTTTAAAAA +ACAGCAAAAATCAAATAACAGTATTCCTCCAAAAAAGATGGCAAGTGTAAACTCTATACC +TTCATGTCTCCCGTGGAATGTTAGTGATCAATTTCCACTTCTCTCTTTTACATCTTACTT +GCCCATTAACTCTTATACCTAATCCAAAGATTGTTAATATGGCTATGTCTCACTTTCAGG +ACACCTTTTATTTGTTACTTCTCTTCACTGCAAAACTTCTTGAAACAGTACTTATTTTCT +CTCCTCCATACACAATTGAAATGGCTCTCAACTCATGCCCAGAAGTCAGTGTTCAGTCTC +TCACCTGGCAGATAGCAACTTACAAAGATGCCCCAACAATACCTCCTTGTGTCTAGACAG +TCATCATTATCCTTTACCTTTTTCTGTATTTATTTCTGCTCCTAAAAGGGATCTCTATGT +AAAGTATTGTTATACTAGTGCTTGTTATAATTATTATCAGAGTTAAAGCCATCACAATGT +TCCCAATTACTTAAAGACATTGGAATAACATTTTTTTTATTTTCCACATCTTGCCAAAAA +ATATTTTGTTATCAGTACCTTaataatggctattatatattgaccattactatttgctag +aaaatttatatacctggtcgtatccaatcctcacagaacttctataaagttgtgctatta +tcacctatattttccagatgtggccgtaagactgaaatcacttaggtgacttgtctaagg +tcattcagatacatagtagataacccaggatttgaacacaggcctcctagcacacaagct +catatcttaactactttaatacgttgctcGATGGGATCTTACAGGTCTTCATTCACCCCT +TTCCTGCTCACACAACCACAACCTGCAGCTATTACCTATTGTTAGGCTTAAAATAATTAC +TTGGCTTCATTTCCAAGCTCCCTCCCTTCCAATTCACATTGAGTCCAGAGCTAAATTAAA +CAATCATTCAAAATTTTTCAGTAGTTCTTGTCTCTATAATAAAACAGAAATGCTTTAGAA +AGCATTCCAAAATCTCTTACCAGTTTTATCTCCTATGAAAGTCCTTCACactttctctca +tttaaactttattgcattttcctcactttttctcacttcacttttgaattccctattctt +ttatcctctgttaatttttaagtattatatttgtgatattattttttctttttttctatt +ttttatctttcatttcattttggcctatttttttctcttAAGAACTTTAATATCACCAAA +TAACATGTGTGCTACAAACTGTTTTGTAGTTCAAAGAAAAAGGAGATAAACATAGAGTTA +TGGCATAGACTTAATCTGGCAGAGAGACAAGCATAAATAATGGTATTTTATATTAGGAAT +AAACCTAACATTAATGGAGACACTGAGAAGCCGAGATAACTGAATTATAAGGCATAGCCA +GGGAAGTAGTGCGAGATAGAATTATGATCTTGTTGAATTCTGAATGTCTTTAAGTAATAG +ATTATAGAAAGTCACTGTAAGAGTGAGCAGAATGATATAAAATGAGGCTTTGAATTTGAA +TATAATAATTCTGACTTCCTTCTCCTTCTCTTCTTCAAGGTAACTGCAGAGGCTATTTCC +TGGAATGAATCAACGAGTGAAACGAATAACTCTATGGTGACTGAATTCATTTTTCTGGGT +CTCTCTGATTCTCAGGAACTCCAGACCTTCCTATTTATGTTGTTTTTTGTATTCTATGGA +GGAATCGTGTTTGGAAACCTTCTTATTGTCATAACAGTGGTATCTGACTCCCACCTTCAC +TCTCCCATGTACTTCCTGCTAGCCAACCTCTCACTCATTGATCTGTCTCTGTCTTCAGTC +ACAGCCCCCAAGATGATTACTGACTTTTTCAGCCAGCGCAAAGTCATCTCTTTCAAGGGC +TGCCTTGTTCAGATATTTCTCCTTCACTTCTTTGGTGGGAGTGAGATGGTGATCCTCATA +GCCATGGGCTTTGACAGATATATAGCAATATGCAAGCCCCTACACTACACTACAATTATG +TGTGGCAACGCATGTGTCGGCATTATGGCTGTCACATGGGGAATTGGCTTTCTCCATTCG +GTGAGCCAGTTGGCGTTTGCCGTGCACTTACTCTTCTGTGGTCCCAATGAGGTCGATAGT +TTTTATTGTGACCTTCCTAGGGTAATCAAACTTGCCTGTACAGATACCTACAGGCTAGAT +ATTATGGTCATTGCTAACAGTGGTGTGCTCACTGTGTGTTCTTTTGTTCTTCTAATCATC +TCATACACTATCATCCTAATGACCATCCAGCATCGCCCTTTAGATAAGTCGTCCAAAGCT +CTGTCCACTTTGACTGCTCACATTACAGTAGTTCTTTTGTTCTTTGGACCATGTGTCTTT +ATTTATGCCTGGCCATTCCCCATCAAGTCATTAGATAAATTCCTTGCTGTATTTTATTCT +GTGATCACCCCTCTCTTGAACCCAATTATATACACACTGAGGAACAAAGACATGAAGACG +GCAATAAGACAGCTGAGAAAATGGGATGCACATTCTAGTGTAAAGTTTTAGATCTTATAT +AACTGTGAGATTAATCTCAGATAATGACACAAAATATAGTGAAGTTGGTAAGTTATTTAG +TAAAGCTCATGAAAATTGTGCCCTCCATTCCCATATAATTTAGTAATTGTCTAGGAACTT +CCACATACATTGCCTCAATTTATCTTTCAACAACTTGTGTGTTATATTTTGGAATACAGA +TACAAAGTTATTATGCTTTCAAAATATTCTTTTGCTAATTCTTAGAACAAAGAAAGGCAT +AAATATATTAGTATTTGTGTACACCTGTTCCTTCCTGTGTGACCCTAAGTTTAGTAGAAG +AAAGGAGAGAAAATATAGCCTAGCttataaatttaaaaaaaaatttatttGGTCCATTTT +GTGAAAAACATAAAAAAAGAACTGTCACATCTTAATTTAAAAAATATATGCTTAGTGGTA +AGGAGATATATGTCAACTTTTAAGAGGTTGAAAAACAAACGCCTCCCATTATAAGTTTAT +ACTTCACCTCCCACCACTATAACAACCCAGAATCCATGAGGGCATTATCAGGAGTGAGTG +GAAGAGTAAGTTTGCCAATGTGAAATGTGCCTTCTAGGTCCTAGACGTCTGTGGTATAAC +TGCTCATAAGCAGTAGAAAGAATTTAGAGGGATCCAGGCTCTCATCACGTTGGCACAAAG +TATATTACTTGGATCCATCTATGTCATTTTCCATGGTTAATGTTTaaaagcacaggcttt +aaagtaaaaaacaaagagctggattcaactctactgactcttattaatcatgattttggg +cacattacgtagctttcatgagctttagtttctacatttataaacaggagattataccta +ttatgcatggttattatgaaggaaaatgacaaaatagatataaatcaaatagcccacttc +gagacatattaagcatgaataaacattagatactattaAAATCCTATATATTAACAAAGC +CAAAAGTTTCAAACTTTACTTTTTCCCAACATTCTTGTGAAATATGACACATCCCAATCT +TAACAGATGCTCATTTGGGATACTGTACTTGTGAGTGGAAGTGTGTATATTTGTGTGCAA +GTGTGTACTCATATACTTCCACCTTACCACCCTAGAAAGGCATGATGAAAATTTAAGATA +GAAGGAAAATATAAATTGAAAAAAAAAAACCTTAACAAATGATTCTGACAAATATCTTCT +CTTTCCAGGGAGAATCACTGAGCCAGAATAAAATTGAACACTAAATATTCTAAGAAAAAA +GGAATCTAGTTTGTCAAAATGTGACTTGAATTAATAGATAAGGAGAGTCAGATGATAAGA +GGGTCAAAATTATGTTTATCTTAGGAAAAGTAGAATAGAAAATTTATAAGCAGATTAAAA +ACACATAATAAAAGTAGTAAATAATAATGACAGTATCTCAAATcagtgcaggggggaaag +gcctactaatgtgatggtgggataattggatagcaatatgggaaaagatatatttaattt +atttgctacaccaaatgccaggacaatctctaagtgaattcaagacataactcttttttc +aaaaaaactatgcaaatattaaaagaaaacaagttaatgtttttataatctatgaatatg +gtaaagatGGATAACATTGACTATCAAATTAATTTTTAATGCGTAATAAAACTATGAGAA +AATTTAAAAGTGAGAAGAAACTACTTGTAACTCACATAATAGActagtacttctaacaca +tagggaacttctaaaacaaaacccaaaatattaataggaaaatgggcaaaacagttaaac +ttacagttcataCATAAGGAGAATCAGTCTTTTTTTTTTTTTTTACAGTTGTAGGCAGAA +AACTTTTATTTTTCATTTATTTGTAAAATTTACCCCTAATTTATTCATAATTCATTTAAC +TGCTAAGGGCATTAATGTGTACAACGCCATGGGAGAAACCAGTATATTCAGAATTTCTCC +TGAAATTTGACCAGAAGTTATGGGCATCCCTCCCCTGGGAAGGAGGCAGGCAGAAAAGTT +TGGAATCTATGTAGTAAAATATGTTACTCTTTtatatatatacatatatgtgtgtatatg +tgtatatatatatacacacatatatacatacatacatacatacatatTATCTGAATTAGG +CCTGGTCttttttaatactttaagttctgggatacatgtgcagaatgtacaggtttgtta +cacaggtatacacctgccatggttgtttgctgcacccatcaactcaccatctacattagg 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+CATATCCTATCTATACATATTGAGGATTAACAGGTGCTAGTAGAAAATATTAACTTTCTT +TGTATTAACAGGTGTTAGTAGAAAGTAGTAGTAGGTGCTAAGATAAAAGCCATAATTAAA +cctcctggtgaatgaacacaccatcacctacaatcttaccaaaaatagaatcaagcacgt +gtcctagtcaaacctctggattcaactgtcatttggataaaacgcaaaggatagtgaaaa +tgtcgatcttcactgagagtctaaccagcaaatttcacagtgtggacatcaagtgacaaa +aatcccaaatttttcaacaaatatattgtatgggaaagaaaactttgaaaagaaacctgt +atgttagaagagattttaaaaacatgacaaATGAAAAAAAATGGGCAAGACTAAAACTTT +TAAAAAAGtttgagacagggtctcactctgtcacccaggctggagtgcagtggtgtgacc +atggctcactgtggcctcaacctcctggctcaagtgatcctaccacctcagtcttccatg +tagctgggactacagctgcgtgccaccacatctggctcatttttttttcttttttaagta +gagacggggacttgctatgttgcccaggctagtctcaaactcctaagcacaagcgatcct +cccgcctcggcccctgaaagtgctgggattgcaggcatgagccaccacacccggccAAAA +GTTGCTTTTGAGGAGTTATTGCTGTGTGGATGTGATATAACCCTTTCTGTCATCTCTTCA +CAAAACTTTCTGTAAAACATAAAAATCACCTGGACCTTCAGAGATGAGTTTGtttatttt +tttattttttaaaaaattGCTAATTTACAGAACATGGAGATGAGTATGTTTTGAAGGCTT +GGAAGCATGCAAGTGGGAGAAGAAAGGAGTCAGCTACATTCTGGCTGTGTGCAGAGGCAG +GTCACTGTGGTGGGAGTGTTCCTGTTTCATGGACTCTGCAAATCGCAATGCTTGGCATGG +CCTCCCGACCCTGATGGCAGAGAAGCAAACACCAGTCGGAGAGCTGGGGTCCTCCCAGCC +CTCTTGGCCCTGTGGCCAATTTTTTCTTCAATAGCCTCATAAAATCACATTATTTGAGTG +CCCATGGCTCCAAAACAAGCAGGGATGCCCATGGACCCTGATTATCCATTGTCACCCTTC +CCTCCAAACAGCCACCTCTCCCCTGGAGACAGCCCCATACTCCACTCAGACCTGTGCACT +TTCTGGTATCCTTGTCACCTGCTTTTTATGTCTCATTTTACAAACACCAAATTGGAAGAC +AGCAGGAGCTGCCCCATAATACCAGTAAAGTGAGAAGCAGAGATAAACTAGTCCTAGACA +GCCGACTCATGTTGGGGGCAGCCCACTCACAGTGGCCCTGACCCAACTCTGACTAGAGGC +CACTTGctctcaacaccagggtgctcaatggcccgtcctggtactctgctcttctctctc +caccttcgctttcctgcaatctatgcagcctgtgactccatccatgggctagtgaccccc +agaccttctcctgggaccacaggcctgtgtctctatctgctgctcaatacctcccctcga +acatccatggctaaaactgagctcctgatactctctccctacccgcttctctgtggattc +cccacctccgcgaaggacagcttcatcctttcagctactcaggccagaagattgaagtca +tctccttctccaggaaatcgtattgagggagctacaaatatccaaaatccgatcgcttct +cctccactacacccgaggcccgccacccatttttgcctgaattgctgcagcagcctccta +accgatctctgctttcacgtgggcacctcagttttttccagaacaacaaccagagagatc 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+TGAATAATTTTAATTTTTATGAATGCAAGTTAAAATAATTCTTTCATTGTGGTTTCTGAC +ATGTCATGCCAATAAGGGTCTTCTCCTCCAAGAGCACAGAAATATTTGCCAATACTGTCC +TTAAAATCGGTCACAGTTTCATTTTTTATATATGCATTTTACTTCAATTGGGGCTTCATT +TTACTGGCCCTATTTGAAGCAAGTTTCTCAGTTAATTCTTTTCTCAAAGTGCTAAGTATG +GTAGATTGCAAACATAAGTGGCCACATAATACTCCCACCTCctttgcctcctctcccagg +aggagatagcctccatctttccactccttaatctgggcttggccaagtgacttacactgg +ccaatgggatattaacaagtctgatgtgcacagaggctgtagaatgtgcactggggcttg +gtctctcttgctgccctggagaccagctgccCCACGAAGGAAACAGAGCCAACCTGCTGC +TTCCTGGGGGGAGACAGTCCCTCAGTCCCTCTGTCTCTGCCAATCAGTTAACCTGCTGCT +TCCTGGAGGAAGACAGTCCCTCAGTCCCTCTGTCTCTGCCAACCAGTTAACCTGCTGCTT +CCTGGAGGAAGACAGTCCCTCAGTCCCTCTGTCTCTGCCAACCAGTTAACCTGCTGCTTC +ATGGAGGAAGACAGTCCCTCAGTCCCTCTGTCTCTGCCAACCAGTTAACCTGCTGCTTCC +TGGAGGAAGACAGTCCCTCTGTCCCTCTGTCTCTGCCAACCAGTTAACCTGCTGCTTCCT +GGAGGAAGACAGTCCCTCTGTCCCTCTGTCTCTGCCAACCAGTTAACCTGCTGCTTCCTG +GAGGAAGACAGTCACTCTGTCTCTGCcaacccagttgaccgcagacatgcaggtctgctc +aggtaagaccagcacagtccctgccctgtgagccaaaccaaatggtccagccacagaatc +gtgagcaaataagtgatgcttaagtcactaagatttgggCAAAAGCTGAGCATTTATCCC +AATCCCAATACTGTTTGTCCTTCTGTTTATCTGTCTGTCCTTCTCTGCTCATTTAAAATG +CCCCCACTGCATCTAGTACATTTTTATAGGATCAGGGATCTGCTCTTGGATTTATGTCAT +GTTCCCACCTCGAGGCAGCTTTGTAAGCTTCTGAGCACTTCCCAATTCCGGGTGACTTCA +GGCGCTGGGAGGCCTGTGCATCAGCTGCTGCTGTCTGTAGCTGAGTTCCTTCACCCCTCT +GCTGTCCTCAGCTCCTTCGCCCCTGGGCCTCAGGAAATCAATGTCATGCTGACATCACTC +TAGATCTAAAACTTGGGTTCTTGgaccaggtgcggtggctcacatctgtaatcccagcaa +tttgggaggccgaggcgggtggatcacaaggtcaggagatcaagacgatcctggctaaca +cggtgaaaccccgtctctactaaaaatacaaaaaaattagccgggtttggtggcaggtgc +ctgtagccccagctacttgggaggctgaagcaggagaatggcgtgaacctgggaggtgga +gctggcagtgagccaagatcacgccactgcactccagactgggagagagagcgagacttt +ctcaaaaaaaaaaaaaTCTTAGGTTCTTGGATGTTCGGGAAAGGGGGTTATTATCTAGAA +TCCTTGAAGCGCCCCCAAGGGCATCTTCTCAAAGTTGGATGTGTGCATTTTCCTGAGAGG +AAAGCTTTCCCACATTATACAGCTTCTGAAAGGGTTGCTTGACCCACAGATGTGAAGCTG +AGGCTGAAGGAGACTGATGTGGTTTCTCCTCAGTTTCTCTGTGTGGCACCAGGTGGCAGC +AGAGGTCAGCAAGGCAAACCCGAGCCCAGGGATGCGGGGTGGGGGCAGGTACATCCTCTC +TTGAGCTACAGCAGATTAACTCTGTTCTGTTTCATTGTGGTTGTTTAGTTTGCGTTTTTT +TTTCTCCAACTTTGTGCTTCATCGGGAAAAGCTTTGGATCACAATTCCCAGtgctgaaga +aaaggccaaactctggaaaaaatttgaatattttgagccaaatgtgaggaccacaacctg +tgagaacggaaaataaatcctgggaccccagactcactaagccaaagggaaaagccaagc +tgggaactggcttatgcaaacctgcttcccatctggttcctaaataagatagctattaca +caaagacaaaaaagctacatccctgcctctacctccatcgcatgcaaaatgtgtattcag +tgaacgctgaccaaagacagaagaatgcaaccatttgcctctgatttacccacacccatt +ttttccacttcttcccctttccccaatacccgcacttttcccctttacttactgaggtcc +ccagacaacctttgggaaaagcacggaccacagtttttcctgtggttctctgttcttttc +tcaggtgtgtccttaaccttgcaaatagatttcttgaaatgattgagactcaccttggtt +gtgttctttgattAGTgcctgtgacgcagcttcaggaggtcctgagaacgtgtgcacagt +ttagtcggcagaaacttagggaaatgtaagaccaccatcagcacataggagttctgcatt +ggtttggtctgcattggtttggtctggaaggaggaaaattcaaagtaatggggcttacag +gtcatagatagattcaaagattttctgattgtcaattggttgaaagaattattatctaca +gacctgctatcaatagaaaggagagtctgggttaagataagagactgtggagaccGTGCA +TAGTTGCTTCCTGATCAGCTCTTTATTTGATTGAGAGTGAGGCAGGGAAGATTAGAGGGA +AGCTTACAGTGGAATTCAGGGCTGAGGCTGCTATTCTTTTGCTCCTTGTAACTTCCTACA +GTGTTGTCAGCATCCACATACTTCTCTGTGGGGTTggtctcagagccaggttaccttgtc +ttaggtccagtggcaccctgactggcttggtgtccttgaacaagttacctaacctctcca +aacctcagtccctcagttgtaaaattaaaaaaaaaaaaaagaagaagaagagtacctact +gtatagcattgatttgaagattgaatgagctggtattatacaacgtttagaagcagtgcc +tgacacgcaaaaggctctcaacaaatACTATCCTTTACTAATATCCTGTGTGTCTGTATC +AGAGCTGGTGGGGTGGAGGGACAGAAACAAGTGGGAGAAGGTaaagagatggacaaatga +tctctaaagtctctctggcactaacaCAATTCTTTATTATGTGTTTTGTCTGGCTCTTTA +TATTGATAGCTGTTCCAGAGGCAATCAATAGCTATTAGTCGGTTTTATTCTTATTTTTCT +GTCTGATCTTACAGGGGAGCAAACTGTGGCAAAGTATGAACTTACTTCTCAGGAAATTAA +CCATTATATTGGCAATCACTGTGATTATTTGAACTTCAGCGTCTGGACAAATTTAGTCAC +ATGAAATACAGAAGAGAGATTTCTCATGGTTAAAACGAAGCTCTCTTTATTTGCTTCTGC +TAATTAAAAAATCAGAGCTAAAGATACTTAAACACTACAGTTAAAATGCCATGGTTGTCT +ATTGGCTTAACGAATTCTCTTATGAAATCAACTCTAAAATGCTATCCATCATAAATCATG +AAACGCAATTTTTCTTATTCTCTTTAGAGCTTTACAATTCATCTTAAAGACCAGTGTTTA +CACTCTCTTCTGTAGGTTGTACAATAACTTTTGGCGAGAAAAAATAAAAGTCTGGCTTTC +TGACTCATAGGTGTGTTCCCTTTAACAGAAAAAGAAAATATGTCCTCTTTAAAACTGATG +ATCATTGGTCACCTCAATTTTATTGAAGTTCACTTCTGACCTCTTTAGATGTAGTTCTCT +ACATAAAACTGCCCAACAGAATTCTCTGTCTGAATGTCTCCTCCACAAACAAAATTTTAA +GAACTAAAATTATCATCTTTCCTTCCAAATATGCTCTCCCTATGTCCCCAGGGCTCTCCA +TGTGTAGAGCTGAGACCATTTGCCACTCAGTTTCCTCACCCAATTAATTACAAGTCCCAA +CAATTTTCCGGtttttttgtttttgtttttgtttttagacggagtcttgctctgtcacca +ggctggtgtgcggtggtgcaatctcagctcactgcaacctccgctgcctgtgttcaagcg +attctcctgcctcagcttcccaagtagctgggattataggtgtgtgccactacatccaga +taatttttgtatttttagtagagaggggatttcaccatattggcccagatgatctcaatc +tcttgacctcatgatctgcccaccttggcctcccaaagtgctgggattacaggtgtgagc +cgccatccctggccCAGTTTTGCCTTTTTAACATCCCTCAGCTCTTCAAATCCATTTTCT +cttctctaacacctccccattccccagctcgtaatgaactcgtaagtagattactacaat +cacctcccaaatggtcttcctggctccatcagccttgtgaccttcaagttcattttccac +atggatgtcagagtaactttctaaaatgaaaatctgaccacgttactctcttgcctaaat +ccgcctatggccgctgttaggatcaagtctaaactcccgaccctggaacatcaggtcttc +gtgctctgttcactgcttctctacctcacctgcaaccaACACCACTCCCACATCCATATG +CTGCTCACCGTGTATCAACATGAACAGGAGGTGGGTGTTTCAGTCCCCAGGAAGACACTG +GGCCTTTTCAATCATCTACTGCTGTGTAATAACCACCCCGCAAACTGACCACATGATTTC +ATTTTGCAAGGGTTCCTTCCTTgggctgtgttcagcaaaagggtttactgagctggcagg +tccaagatggcctcactcacaggactggctgttgatgggagccttgatgctcttgggctc +accccttatcctccagtaggttagagcttcttacagtggtttcaggcagcatctgaagac +agtaaaagcagaagctccaaggcttcttacattctagcctggaaaatcacatcacattgc +ttccttcatatttttttggcaaatcaggttgcaaggcttgcccagattagggtaaagagg +caaagaggctccttttcttTTCttttctttttttttttttttttttttttgagtcagaat +ctcgctctgttgcccaggctggagtgcagtggtgcaatctaggctcactgcaagctctgc +ctcctgggttcacgtcattctcctgcctcaggctcccaagtagctgagactacaggcacc +taccaccacgcctggctaatttttttttattttttattttttagtagagactgtgtttca +ctgtgttagccaggatggtctccatctcctgacctcgtgatccTTGCAAAGGGACATGCA +GACCACATTAGTGAGAATATGTGCCTGTATTTTGCAATCTGTAACATGGGCATAAACTAA +ATGTTTTCCAAAGGGAATAGGGCAAAACAAAAAGGACCTTGACCACTCCTTGGCCCTGAA +TAAATCCAGGAAGCCTAAGAGTATGACTATCCTGAGGTAGAAAGAGGGTCACATGCTGGA +TAAGAGGTACCTGGGCTCTCCACTTACAAGAAGAGAGCATGGTTACATTTATAATCACCA +TTCCCAACATGCTGTGAGTGCAGGCAGCTACCAGGAGGAGAACAAAGGAAATAACCAGGA +CACTCATCTCTAAACCTGTTAATTTAATCACACGGAACACTTCTATTTAAAATTCCCGAG +AGTTAAGATGTAAGAATGCTTATCAAGGTAAATGCTGTTCACACTGCTTGGAGTGTCAGG +CCTAGATCTCTATCCATCAGAaacaacaatatcaataacaacaacagcaacaTGATGATG +GGGCAATTTCTTAAAAGCACCATGTATTTTATCGATACATGTCCGTTGCAGAAAATCCAG +GTGAATCCAAAGAAGAAATAAATGTCTTCCACAATCCCATAGCCCAGAGCTAACTAACCA +CTATAAAGAACCCAGCGTGGTTTTAACTAATGGATCAAAAGATGCTCATCAAAGGCTCTG +AGCTTTCCTGAGTGCTAACAGGAAACATCCAGCATCACTGGTCTCTCCAAGGCTGCAGGT +GTCTTTGCCCATAGTGCCTGTTTTGTGTCAGGGAAAGAATCAACCTGGGAGCCAAGCCCA +GGAATCAGGATGACCAAGACATACTGCACAAGGAGGGAACAAACCCATCCAAGGACACTC +AAGGACAAATCAAGCAAATGAATTTAAGGGAGACGTGCTCATGGTCTGCTTTGCTGCTCA +GCATGGCTGGGAGGCACAGTGGAAGATCATGCATCCTGCCCCTGGGACTCCTCTGCCAGA +GCCTGAGAGCTTTCTCCTGCCCACAGGCTAGGGGTAGGGCAGTTGGAATTGATCCATGCC +TTCTAGCTAGACTGTGGGTCCCCTCAGTCTTGGGCATGGTGACAGCCCAGCATCAGACAG +AGGTCAGTATCAAACTAGAAAATTTAATAAATACTGTCAGATTTGTAGACCCAAGAAAAT +ATAAACTGCCAATCACGGAGGAAAAAAATCTCTCAATGATCTTATCTTTATATGATTCCC +TTGCTGCCTGGAGATTGACATTTCCTTGGGGATAATCTGGTCATAGGATTGGTGAAGGTG +GAAGGGAGGCAACCTCCAAAGGTGGGGCCCTCTGCTCACCTGGGACAGGGAGGGCCTGAG +GTAGGTGTCTGTGTGGGCTGGGGAGGAGGATGGGAGCAGTGCTTCTAGATGTTTCCACTT +TCTCCTCATTAGATAATAACGAATGGGTGATTTCCCTAGTCACTGCAGTGTGAGGAAATC +TACAAAATTAATTTCACAATACGCTTTACAGGATAGGTGGAGAAACACATGAAGTACAAC +TGCAGTGGGTTATAAAAAACGGCCTTTCGAGTTGAGCAATAAATTCGTTCAAGCAGCCAT +TCTGAAGGACAAACTGGCTCTGTATTTAAGAGGGGCATTCCAGCACTTCTCTAGCCACTG +GGTTGACAATGACTCACCAAAGCCTCTGGTAGCCACCACAGGACACCCAGAGCATATGTT +TTAAAGCTGAACACCAAACTGCGGACTTCGGGAGTAAGTGAACTGACTGGTTTTTATTTT +GTTTTACTGCTTTTAACATTACAGTAACTGTTACAGGTTCCAGCAGGCTAACTGGGTGGA +AATGAGTTTGGTTTCACTTAGTCTCTCTAAAGAGAAAGCAAGTCGGTAGACTAATACCTA +ATAAAAGCAAAGCTGCCAACAATTGAAATTGCCTAGGCTGCTCTGTGTGTCCCACAtgca +tgggtgtgggtgccagtgtgtgtgcgtgtgtgcatgcatgtgcatgtgtgtTGGGATAGA +GTGGTAAGAAAATGGGAAATAATAAGAATGTTCAGTCCATAGCCCTTCATTATAAAAAGG +TGAGCTGTAATAAATACTAGTGCCACATTTAGCCAAAACTTTACTCCAGCCAAAGGTGAT +ATTTTCATGATAACATCCTGTGATTGCTTTGTTCTTCGTCTTTTATGTTCTTCCTAGATG +GGCTCAGAACATACAAGAATTAAGTACACATCTTATTTTCCAGTGATAATGCTACCGGCA +AATTCTGTTGTTTGTATAAACATCAGCCATGTTTATATAACTAAACTAGTGTTTTGTTTT +GTCAATTCAGCAAGAAATTAGACCAAATGGTGGCTTAATGCTGCATTGATTTGGCTATCA +ATTTGTTTTCACTTTTCTGCAAAATAATTAATACATTATTAAATTGAATTGTGCTGATGC +CACAGTTGTTCTTATCTCAAGTGTCTTAAAATTCATTTAATTTGTTTTTCCTTTGGTTTC +ATTATTCAAATTTTAACTTCAGTTCTCAAGATTTTATCTGATGGAAGAGATGGAGTCCAT +TACTAAGGACTCCATTGTGCTCCATCATGCCAGAGTTGTAAAATAGATCTTTTAAAGGAA +ATTTACTGTGATTTTTTTTCTATTTAAGAGCTTCCTCTCCAGTTGAGCATGTAAGAAAAT +TATACCAGGAGAATACAGTAAACTCTATGAGGCAAGCTATAAACATGTAGCATTGTGATT +AGGGctggttctccttctagagacatggtaggattgcaatttcataccatccttgaagtt +agagagagccacgtgactcatttagccaatgaactgtgagcagaatgacatgtcacttcc +agctgaagctttaaCAATCTGAGAGACATTCATACATTTTCCATGTGCTGTAGCCTTATA +CCCAAAGCCTGGGTCCCAAGTGACCATGACAGGCAGAGCTCCCTGttgagccacagagat +ttagagaatggctgttaacacagcataatccagcccatcctgactaatCTGATATTAACA +TGTATAATAAAGAATTCTATCAATGCTGAGGGAAGATGACTAGTTAAGGTCCTAGGTTGC +AAGTCTCAAAACCTCTTCTAAGGATTGTAGACAGGAAATTAAATGACTTCTAGTCCCTAG +AGTTCCCAATCTCCTACCATCCCATCCTAATATGACAGAAGTAATTCCTGAGTTGCTTCT +GAAACCAGAGCTTCCCTCAGAACCCTTAGCCTGCCAGATGGCTTCTTGGAGAGCCCTCAC +TCACTTTTCTCCTTCTGCTATTGCTGCTCATTCATTCCAGTTTTTAAAAATTCATCTTTA +TCCAGGAACCTCGCTTCTAGAAAAGTCATACAGGTGCTTCCAGGAGGCTACATGGGCACC +CATATTTTTCTAGCCACTTTCATTAGACCAATGCAGCAGAGAAGAAAAGCCTCAATAATT +ATTATGACATGGCATGTTAGGATACCAAGTAAATTGCATTTGTAAAATGTGATTTTCTGT +TGGTGTTCACTTCAGCTCTACTGACATTTGGTAAGTATTATTGACTGACTGACTAACTAA +TGTGGTCATTAGTCTTCATAAAGAAAGGCTCTCTACAAAAACGGAGGGATGCCCTTTTTC +TGGCATTTAATACGTAAGAAATTGCCTCCAATAGAAACCAGAGTTGCCTGATTACTATCA +GCACAGGAGAAATGTATTAATGTGCCTTTCTAGTAACAGGTTTTTAGAAAGTCAAATATA +AACAAATCTGTCTATTTGTGTGTGTGCATGTGGTAGTGGGGAGGGAAGAAAAAAGGAGGG +GGAGAGAAAGAGAAATAAGAACCAAGTTTATTATACTGTATTCAGGGGGAAAAAATTTTC +CCAAGGTCCTAACAGAAGAGCAAAGTGCCACTGTCAATAGCCTCAGTAGTGTTAGGGTTG +CTtttatttatttatttatttatttatttatttatttatttatttttccttttttttctt +tctctttttttcttcttttttttttcttttctttcttttttttttttttttttttttttg +gacagagtctcacactgtcacctgggctggagtgcattggtgcaatctcgactcactgca +acttctgcctcccaggttcaagtgattctcctgcctcagccgcccaagtagctgggatta +caggtgtctgccaccgtgcctagctaatttttttgtatttttagtagagatgaggtttca +ctatgttggccaggctggtctcaaactcctgacctcatgatccacccacgttggcctccc +aaagtgctgggattacaggcgtgagccaccgcccctggccAGGATTGCTTTTACAGCCAG +TCTTCAGGTGCCCACTGTAGGAACAATGTCATTTAACCCTCGGGATTATTCTGTGCCAAA +TATGGATAATGACTAATATCCAACACAGATATTCTCAGCTCAGAAGAGCAATTAGCAAAT +TCATAAATTAAGTGCTTGCTTCCTCTTTAGTCAAATACAAACGTTTGTTAAAAGATATTA +TTTTGCTTTACACTTTTTCTCTCAGAAATAAGCAGATGCTTGAATTCCCACAGTGCTGCT +TGAGCCTCACACCATGTCATCCTGCCAGGCACCCAGATCCAGTTCTAGAGTTTCACATGA +TCGTGAgtgttggttaataagtcaatgtgaactgggaggggagatttttcaggagtgcca +cagggctctccctttaatcACATACACTCCCTGCTTTCATTGGAAAGTGTATAATGATGT +CAGAGTGCCCCAGAATGGAGCTAGTTGGAAGACTGCCGTCATAGGGATGCCTTAGTGAAT +TAATAAGGTTTTAATTTCTGGCTCTCAACTTTGTAGATGTAAAAGTTGATTTATCAATAT +GTGAGAAAGGATGAATCTTTCTGAAGGTTATGTCATCACACTCACTAAGCACACAGAGAA +TAATGTCTAGAATCTGAGTGCCATGTTATCAAATTGTACTGAGACTCTTGCAGTCACACA +GGCTGACATGTAAGCATCGCCATGCCTAGTACAGACTCTCCCTGCAGATGAAATTATATG +GGATGCTAAATTATAATGAGAACAATGTTTGGTGAGCCAAAACTACAACAAGGGAAGCTA +ATTGGATGAATTTATAAAAATATGCCTCAGCCAAAATAGCTTAATTCACTCTCCCTTATC +ATAAGGATAATCTTGCCTAAAGGGACAGTAATATTAAAGACACTAGGAATAACCTCTGTA +CTTTGGACAGTAGACCTGCATAGCCCATTAGGCCTCAATGAAGTCTTATGCAAGACCAGA +AGCCAATTTGCCATTTAAGGTGATTCTCCATGTTTCTGCTCTAACTGTGCTTCACAATAC +TCAAAACACTAAATCAGGATGTTTCCTGGAGTTCAGGGAGCTGTCCGTGTTACTGAGCAG +TTCTCAGCAACACAAAGATCCTACTGACTCCTCATCAGACTTCTTTCTCACTGGAATTTT +ACACCTGGGCTGTTAACACCAGGCCAGGTCAAATTCAAAGGAGAGAAAAAAGCTCATTAT +GAAGGGTAAAATCCAAAACACTGTGCATAAAGATATGGCACAATTTTTATACATAAAGAT +TTCATAAAACCAAAGCATCAGGAAATGAAAAGAGATACAGAAAGAAAAATGATGGTAAAT +GAGACATTAATTTACCCTTCTAATCTCTATCACAGCAAAAAGATAATTAAAAAATCTATA +TGAGGACCACAAAATACACAAAAATTATGTAGCAAAGCCTATAGCCTGAAAAAGTAAACA +TTGAAATTTGTATGTCCATAAAATGTTTACAAAATTCAGTACATATTACACACCCCACCC +TAAAAACATCTAAGCAAAGTAGAGAATGTAGAAATGCTACAGATTATATTCTCTGATTAT +GACACAACAAAACTAGAAATTACAGCATGGAAATTTAAAAGCTTTCTCTTAAATAATTCT +ATGTCAAAAAGAAATCCAggccgggtacagtggctcatgcctgtaattccagtactttgg +gaggccaaggtgggcaggtcacttgaggtcagcagttcaagaccagcctcgtcaacatgg +taacaccctgtctctactaaaaatacaaaaattagctgggcctggtggctcatgcctgta +atcccagctacttaggaggctgaggcaggagaattccttgaacccagaaggtggaggttg +cagtgagctgagattgcaccactgcactccagcctaggtgacacagcaagactctgtcaa +aaaaaaaaaaagaaaTCCAAATAAAATTTCCAGAATATGTGGAAAATAGTGACAATAAAA +ATATTAcacatgtgtaatcccagcattttgagatgccaaggtggcaggatcacttgagac +caggagttcgcaaccagcctggacaacatagggagactccatctccacacacgccaaaaa +aaattttaaatagccaggtatagtggtacttcctgtaatcccatctacttgggaggctaa +ggtgggagaatcacccaacctcaggagttcagggcttcagcaagccatgatcatatcact +gcactccagcctcagcaacagagcaagatcctatctcaaaaaaaaaaaaaaaaTCACATG +TGGGAAATAGCTATAGCACAAtaaaaataaatgtattaagtatgaacaacaaaaaagcta +gtaaaggttgaacaacaactatccttaggaaagtggaaataatgtattaataaatatgaa +agcaggctagccacggtgactcacatctgtaatcccagcactttgggaggctgaggcagg +cagatcacctgaggtcaggagttccagaccagcctggccaacatggtgaaatcttgtctc +tcctacaaatacaaaaactagccaggcttggttgtgcactcctgtaattcgagctacttg +ggaggctgaggcaggagaatctcttgaacctgagaggcagaggttgcagtgagccaagat +catgccactgcactccagctggggcaacagagtgacactccatctcaaaataaataaata +agaaagcagaaactaataaactagaaaacagaaacatagaactaatttataaatcaaagc +actatgccttgaaaagaGGGAGAAAAATTGTGAATTAAGGAAGGGAAGAGATGGTTGGAG +AGGAGGTGGGAGAAGGCAGAGATAATTGAAGGAGCAAAAGCATCTGGAGAAGCAAAGCCA +CTGAAAGATGAACAGGGCTCTGAAAGAGATGCTTGACTGCTATCTTTTCAAATGACTGCA +GTTCCCAGTGACATCATTTTTCTCCTCCCTGGAAGTCTGAGGGGCAGTTCACTTATCTCC +TCCCCTCCCCTACTCCTCACCCCACACTCAAAACCTGTCTATGCTCCTTTCATTCTCATA +TGACAGATTTCAGATGGCATTCTTATTTCCCTGATTTCTTTTTGAGATAGCTTGCATTTC +CCTCCTCTATataaagccaccgtttatcaaatgcctacatggaccaagcagtccacaagg +gcttcacagacagttttactaaactcatgccaaaactttcaggttttatacctaccttat +agataaagaaattgaagcttatagagtttaagtaatgttcccaaagcctcgtggctagta +attcaaacctaatttctgcctactccaaagtctatttttccttatgatactctactgcct +ctcCAtggataaagacagagatcacatattaataaaatttgcacaaagtcggcaaattgt +tgaaagggaaggctaagatgattaataaaatcaagagccagatgatctcaacaacctgaa +ataactggctgacaaccaatttgaataactccctgcgggtgaagttcaaagtactatttg +ggtttttttttaaagtttggctgggtgcagcggctcacgcctgtaatccaagcacttagg +gaagccaaggtgggcagatcatgaagtcaggagttgaagaccagcccggtcaacatggtg +aaaccccatctctactaaaaataaaaaattagccgggcctgctggtggatgcctgtagtc +ccagctactcgggaggctaaggcaggagaatcgcttgaacccaggaggtggaggttgcag +ggagccgagatcgcaccactgcactccagcctgggcgacagagcgagattccgtctcaaa +aagtaaaataaaataaaataaaaAATAAAAgtttgatatattcagaatcagggaggtctg +ttgggtgcagttcatttgaaaaattcctcagcattttagtGATCTGTATGGTCCCTCtat +ctgtcagggtcctagcaggaaattgttgcactctcaaaggattaagcagaaagagtttaa +tgaagggtctctttccagggttaagggaactgctagggtttggatatttgaccactccaa +actcatgttgaaatgtgatccccattgttggaggtggggcctaatgggaggtgttttggt +cctgagtgtggacctctcacgaatgtcttggtgccatccaagtgagttcttgctcgctct +tttttttctttttgagatgtagtttcactcttgctgcccaggttggaatgtagtggtgcg +atcttggctcactgcaacatccacctcacgggttcaacccattctcctgtgtcagcctcc +agagtagctaggattacaggtgcccaccactatgcccagctaatttttggtatttttagt +agagacggggtttcaccatgttggccaggctggtctcaaactcctgacctcaggtgatac +acctgcctcggcctcccaaagtgctgggattacaggtgtgagccaccatgcctacctagt +tctagctctcttaattcccacaagagctggttgttaacaagagcctggcacaaacccctc +tctctcgccacgtgatctctgcacatgccagcttcccttccccttctgccatgagtggaa +acagcctaacgccctcaccagaagcaaatggtggcaccatgcttcttgcacaccttcaga +actgtgagccaaataaacctctcttctttaaaattattcagcctctggtattcctttata +acaacacacacacacacacacacacacatacacacacacgcaaaagcagactaaaacagg +aactaattagaaatggtgatgcaccgagggattggcaCCGAGGCTCCCCAACAGGAACTG +AGGTCATGGATAGAAGGACACATTCATGTTATTTTTTTCTAATGGTTAAGTAATTATTTG +ctcttactctcaaaatttctgccaaggcctcccatggaccaaactcaactagaatctagg +aagcagagaacctgagtgttgcattcagcagaagtcagcttcctagggaatcttgcagga +agggtgaaggtagagaatctggtggggaagcaagcaaatgcccatcacaTGCACTTTCCT +ccaacagagcgactcagatgctataaaacttgctaacacagtctcagggtctgatcacag +taacatacaatccaggttttaatcatcagaaatcacagtcctattgtcttctgcacagac +ccaaacacacttggaggtcatgttcaatatgaatacctcacagagaaggaaatttacacg +cgagaagtacatctgcagaaagccagctggcatgtcaaccattcaaaaactcagggtgtt +ctggataaagaagactcaggaagacaagtatgaagcataatctgtgacattccatgcggc +agacattagacacatacaagagagttgttggaaagcggaatttatcttcatataaacaac +actgagctaaatctcaatatttcagatctctagaactatccatcagtgaaatggattgca +aatacaaagagtaataccatgtcacttaagaatagaatcatggacgaggctgccacctgc +tgttgggggccactgcagaagaaattccagaacactggactggagagcacctcactttcc +ttacagctctaagtttctgACTCAGTGACCTGATTCACTACCATATACACAAAGACCCAC +TTACACAAATGACTGTTCTTCACACTAGGCCCATGGAGACAGGGATAAAATTCTGAATTT +GCTCAGATACCTTCTCCGCTACTGACATCTAGGCATTACACAATTCATCTCTTCATATTT +AACCTTTGAAGTTTGCTACTTCTCAGAGAGACTAATGAGTAGTGAGCAAATATCCTGAAG +CTGAGAATGCTTCTACCTCCTCTCAAAACAACGGAATATTCATCAAAACACAGCAGTTCT +GCACTTAACTTTAGGCCTTTTCTAACACCTTGTTTCTTGGCAGTAACTGTGGCCAGAATA +GCTCTTTCCACAGATAAAGGACCTTTTGAAAGGATAGGGTCTCTAGATAGAAAAGCAAAT +GCCTCATTCCAGAAGGTCTTCAAGAAGAAAATGTTGTGGTGATAACAAACATAACTGATT +ATAATCTATTCTGTGAAAAAAGCTTATGAAACAGTAGATGTGTGTATCTAGTACATAAGA +GCTGAATGTCAATATATATATAGATATATACacacactcaaataaataatagttatctct +aactagagaaattctagttgccttatattttcttctttttccttactatattttctacaa +taaacatgtgtttttaacaagaaaaGTCTTTTCTGGTGTGCTTTTTAATTTTCTTTGTTT +AAGTGAGAGTGAGGCTACATAACTACATGGCTAGGTAGACTTTTAGAAAACTTGGCTGCT +CTAGAAAATTGACATATCCTGATTTCTTCCATAGCTTGGATCTTGACCTAGAGGGAAATA +TAAAAGTGTTGACTTGAACCTGAGGGGTGCCATTTTCACTGCTGAAGTAGTTTCATGGAT +CATGAATTGGAGAAATGACTTCAGCAACATGGGTGTTAAAATCAGAAAGCACAAGTGACC +CACAACAGATGATGGAGAACAAAGAGCAAGCTGGGAAAGCAGTGGCCTTTAATACAGAAA +AGAAGAAGTATAGCCACAATAAATATTAGGCAGACAGCAGTTCAGCAGTTTATACTATTA +AGCTGTTGTTTAGGGGAATAGTAAACTGACATGACCCTTGAGGTAGGTATATATAGGTAA +ATTCTATGTGTCCCTTGAAATAGGTGTATGACACAACTTCTGGCATCTACATGGATTTGG +TCACTCTAAAGTAGCCATGAGGCTTAAGATAGTTCAGCTGTTTGGGGATAAGTTAAATCA +TTTGCCATTGTCTTTCTGCAATTTGCATATCCTACAGTTATCATTGCCATTACTGAATGG +CACAGAGAAAAATTCTGGTCTAAAGTGGTTCTCAAACCTGGTtgctggagggccaccctc +agtgatgatgatttaatctgtagaagaatagaacattgatagtttttatatatctccagg +taattttaatatataactggggtgagaatcattgACATAATTGTAACAGGATAATATTCA +GGAAATATGGAGATAAATAATTTTCTTCTCGACATTAAAAAAATCTAATAAAAAGTTTTA +TGTTTTCCCCTAACTCAGGGTCATCAGCCTTCAAGCTTCAGTCTCTGTGTGTTCACAGGT +GCTGTAAACACACGCATCACTACTAATATCCCACTTCAGTGCTATTGCTGCTCCCAAAAC +TCCAGGTATTTTTAACCTTATAAACCTCCAGAATAATGAGACCACTGGGTTCAGTAAATT +GCTTTGTTTTGAAGCACTATTAGACAAAGTGGGAGACTAGAAGATAAATCTGTCAATGAC +ATGTCCTTTAAGACTACTTAGATTTTGTTGAATTTGTGGATCATTCCTTACTTGAGCAAA +TGGTAAATTAACTCTCTCTTTTCTCTCTCTCTCTAGCTGGCACACTTTTTCCAGTAGCCA +TTCTACTTGGTATGCTTACTTATCAGCTGTCCTCCAGGGGCCTCACATTAGATGTTTCTC +TGACTAACCAAACATGACACACAGCTGAAGTCAGAAAAACCAGATTGATAATTTCACTCA +AACTATTTTCCTTCATTCTAACAATTTACTGGAGTACACAATTGTGACTATTTTTAGCCA +TAGGAACTCATAGAAAGACCAACTTCATTAGACCTACAAAATCGAATTGTGTAACAGTAT +ATGCAGTATGTGTAGGAATAAAAAGCATTTCTCAAATATGCAGTACTGGATTTTGCAAAA +GCACCTTACACTTAGCTATAAAGGAGTGGAAAACACAAAGATGAGTAACTGCACTTTTCA +AAAGACTAGAGCTATACCAATAATACAAAGGTGTAAACAAATAATGATGAGATGACAAAG +GCTGAGTGTTTTCTATTTGGAAGCTATGTTGTTGAGTTATTTATGTATATAATTTCATGC +AATCTTCATGTTATGGGGATGTTctaatccactgtgactctgtccttaaataaaagggag +atttggacatagagagaggcacacggggaggatgccatatgagaattgacactgtgctgt +cacaagccaaggaactactggaaggagagaaagaggactggaacagttccttccttagca +ccttttcaggcagcctagccctgccagcttcttgatctggacttctcacctctagaattg +tgaggcaataaatctctgttgcttaagttacccagtttgtggtaccttattacaggagcc +ctaggaaaataattcaTTATataatctgctaaggtagatatgatcattgtctccaatttc +catatgaagaaactatgcctcaggcattgtgtcagttgtccaaaatcatacattcctgac +tcacttcaatgaattcttcattcagcaaaatttttaaggtaccttaaaaaaattatgtta +actcttagggccttgctttaaagcttcaatgggcttttcctttgcaaagaataaaatcct +aatacttaagcatagctctctttcctggctatgtttctgacatcctcttgtaccatgctc +ctccttaatcattctgaggttacatcttaagtcctttccccttgccattcccacttcttg +gaatactttcccatcaactcttcaaagaactgccttctttaagtatttggtctcagttcc +aatgtcacttccctgtaaaagcttcctggccatcaagccttctttacacactctatttta +ttttttcatggttcctataacaacctaatatattctcaattgattaactgttttgctgaa +tactgccttccataagaatggaaagaaaacatggccaggtgcagtggctcacacctgtaa +tcccaccacttcaggaggctgaggcaacatggcaaaaccttctcttcaaaaaatttttta +aaagttagctggatgttgtggaggcaagaggatcacttgaggatcacttgagtccatgag +gtcaaggctgcagtgagtcatgtttgcaccactgcactctagcctaggtgacagagctag +tcactatcaaaaaaaaaaaaaaaagaatggagagaatgctacatgagagaaaggatctta +tctatcatgttcacctcccaagaggtgaacatatcccccaaagcctgatagagagaagat +gctcattaatatttaatgcatgaCCATGTGCAGACTTGGGAGGAAAAATATGCCTCAGCC +TATCAATATTGGATCCTTAATAAACAAGGATGTTTCTGCATCATTTCCCCACAACACCGA +ACAAGTGTGGCTCACTGTGGATGTTTAAGCAAATGCATTGTTTTTCCAGTTATATATCTG +GTAGAGATGAGGCCATTGATAGGAATGGGAAGACGATCTCCTTTTATTTTGATGACCCAG +CATGGCTGAACACTCAGTGACTACCACTGCACTTTGTTGTACTTTCAGCATTAGAGATGC +CAGCCCTGTAGGATATAAAACAGGAACATCTAGTCCTCAATTATATTCAGAATTACTCAA +GTCTTAGAAGCACCACTTGTCTTTTTTCAAGGGAGAGAAATGCTCAAGTGATGGGCTGAA +GTGAAGGGAGGGAGTCACTCACTTGAACGGTTCCCTTAGGCTGTGTGGATGCAAACAGCA +TTAGACAATGACACTGACAGTGGGAAATGCACTGGAGACGATGACTGGCAAAGCCCTCCT +TTTCTCCCCATCCACTATAGATACTGACAGCAAAGGGTTTGTCACAATGACAACTATACA +CTCCCAATATCACAGAAGAAGGAGGAATAAAAGGGTATATTATGAGTGACTGAAGTTTAG +AATAAATTAATAAATATTATGTCCCTCATCCATAGAAACCACAAAGGTCTAGTAAGGCTA +AGGATATAACAAGAAAATAATATGAATATTTGCTTCCCCTTCCTAGTGTAATAGAGTAAG +TTACAAATGGCTTCAGGAAGGGGAGAGAGGAAGAAGAGTGGATGAGATACGTAAGAGTGC +TTGAGGGCTAATTTTATGAAAGCTTTGGGAAGTTTTAAGAAAAAGAAAAGCTATTTTTCA +AGGTACAtgtgtgtatgcgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgAAA +GACAGAAGAAAGAGGGAGACCTTAGAAGACTATGAGACACTAAGAGAAAAATTAAGGTAA +AAAAGACACACACTTAGAAAAACACACATAGGGAGGAGGGAGGAGGTTAAGACATTTTAC +TATGTGCTGTGAATGGAAACTACAAACCATTTTTGATatatgcaatatatatacatatat +acacacatatacatatGTATTTAAATATTTAAATTACAttttctctttttttagagatat +ggtttcactatgtcactctgcccaggctgcagtacagtggttgttcacagtcatgatcat +agcacattatagccttgaactcctgggctcaagcaaccctcctgtattagtctccccagt +agttgggattactagcatatgccaccatgtccACCTTTATGCTTTTTAAAGTGAAAAACC +ATACTAAGAATGAGGCAGCTCAACTTAATAATAAAAACATTTCAAATGtaaagaaattta +caaaagaaaaacaatcaaccccattaaaattgggcaaagg +>chr2 +AAAAAAA +AAAAAAA +DDDDDDD +CCCCCCC +D + diff --git a/public/testdata/exampleFASTA-windows.fasta b/public/testdata/exampleFASTA-windows.fasta new file mode 100644 index 000000000..92e642ffa --- /dev/null +++ b/public/testdata/exampleFASTA-windows.fasta @@ -0,0 +1,7 @@ +>chr2 +AAAAAAA +AAAAAAA +DDDDDDD +CCCCCCC +D + diff --git a/public/testdata/exampleGATKReport.eval b/public/testdata/exampleGATKReport.eval new file mode 100644 index 000000000..3d43c81c9 --- /dev/null +++ b/public/testdata/exampleGATKReport.eval @@ -0,0 +1,36 @@ +##:GATKReport.v0.1 CompOverlap : The overlap between eval and comp sites +CompOverlap CompRod EvalRod JexlExpression Novelty nEvalVariants nCompVariants novelSites nVariantsAtComp compRate nConcordant concordantRate +CompOverlap none eval none all 0 0 0 0 0.00000000 0 0.00000000 +CompOverlap none eval none known 0 0 0 0 0.00000000 0 0.00000000 +CompOverlap none eval none novel 0 0 0 0 0.00000000 0 0.00000000 + +##:GATKReport.v0.1 CountVariants : Counts different classes of variants in the sample +CountVariants CompRod EvalRod JexlExpression Novelty nProcessedLoci nCalledLoci nRefLoci nVariantLoci variantRate variantRatePerBp nSNPs nMNPs nInsertions nDeletions nComplex nNoCalls nHets nHomRef nHomVar nSingletons heterozygosity heterozygosityPerBp hetHomRatio indelRate indelRatePerBp deletionInsertionRatio +CountVariants none eval none all 100000 100000 100000 0 0.00000000 0.00000000 0 0 0 0 0 99872 0 128 0 0 0.00000000 0.00000000 0.00000000 0.00000000 0.00000000 0.00000000 +CountVariants none eval none known 100000 0 0 0 0.00000000 0.00000000 0 0 0 0 0 0 0 0 0 0 0.00000000 0.00000000 0.00000000 0.00000000 0.00000000 0.00000000 +CountVariants none eval none novel 100000 100000 100000 0 0.00000000 0.00000000 0 0 0 0 0 99872 0 128 0 0 0.00000000 0.00000000 0.00000000 0.00000000 0.00000000 0.00000000 + +##:GATKReport.v0.1 SimpleMetricsByAC.metrics : TiTv by allele count +SimpleMetricsByAC.metrics CompRod EvalRod JexlExpression Novelty row AC nTi nTv n TiTv +SimpleMetricsByAC.metrics none eval none all ac0 0 0 0 0 0.0 +SimpleMetricsByAC.metrics none eval none all ac1 1 0 0 0 0.0 +SimpleMetricsByAC.metrics none eval none all ac2 2 0 0 0 0.0 +SimpleMetricsByAC.metrics none eval none known ac0 0 0 0 0 0.0 +SimpleMetricsByAC.metrics none eval none known ac1 1 0 0 0 0.0 +SimpleMetricsByAC.metrics none eval none known ac2 2 0 0 0 0.0 +SimpleMetricsByAC.metrics none eval none novel ac0 0 0 0 0 0.0 +SimpleMetricsByAC.metrics none eval none novel ac1 1 0 0 0 0.0 +SimpleMetricsByAC.metrics none eval none novel ac2 2 0 0 0 0.0 + +##:GATKReport.v0.1 TiTvVariantEvaluator : Ti/Tv Variant Evaluator +TiTvVariantEvaluator CompRod EvalRod JexlExpression Novelty nTi nTv tiTvRatio nTiInComp nTvInComp TiTvRatioStandard +TiTvVariantEvaluator none eval none all 0 0 0.00000000 0 0 0.00000000 +TiTvVariantEvaluator none eval none known 0 0 0.00000000 0 0 0.00000000 +TiTvVariantEvaluator none eval none novel 0 0 0.00000000 0 0 0.00000000 + +##:GATKReport.v0.1 ValidationReport : Assess site accuracy and sensitivity of callset against follow-up validation assay +ValidationReport CompRod EvalRod JexlExpression Novelty nComp TP FP FN TN sensitivity PPV FDR CompMonoEvalNoCall CompMonoEvalFiltered CompMonoEvalMono CompMonoEvalPoly CompPolyEvalNoCall CompPolyEvalFiltered CompPolyEvalMono CompPolyEvalPoly CompFiltered nDifferentAlleleSites +ValidationReport none eval none all 0 0 0 0 0 NaN NaN NaN 0 0 0 0 0 0 0 0 0 0 +ValidationReport none eval none known 0 0 0 0 0 NaN NaN NaN 0 0 0 0 0 0 0 0 0 0 +ValidationReport none eval none novel 0 0 0 0 0 NaN NaN NaN 0 0 0 0 0 0 0 0 0 0 + diff --git a/public/testdata/exampleGATKReportv1.tbl b/public/testdata/exampleGATKReportv1.tbl new file mode 100644 index 000000000..1002274eb --- /dev/null +++ b/public/testdata/exampleGATKReportv1.tbl @@ -0,0 +1,36 @@ +#:GATKReport.v1.0:5 +#:GATKTable:false:11:3:%s:%s:%s:%s:%s:%s:%s:%s:%.2f:%s:%.2f +#:GATKTable:CompOverlap:The overlap between eval and comp sites +CompOverlap CompRod EvalRod JexlExpression Novelty nEvalVariants novelSites nVariantsAtComp compRate nConcordant concordantRate +CompOverlap dbsnp eval none all 481 12 469 97.51 468 99.79 +CompOverlap dbsnp eval none known 469 0 469 100.00 468 99.79 +CompOverlap dbsnp eval none novel 12 12 0 0.00 0 0.00 + +#:GATKTable:false:30:3:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%.2e:%.2f:%.2f:%.2e:%.2f:%.2f +#:GATKTable:CountVariants:Counts different classes of variants in the sample +CountVariants CompRod EvalRod JexlExpression Novelty nProcessedLoci nCalledLoci nRefLoci nVariantLoci variantRate variantRatePerBp nSNPs nMNPs nInsertions nDeletions nComplex nSymbolic nMixed nNoCalls nHets nHomRef nHomVar nSingletons nHomDerived heterozygosity heterozygosityPerBp hetHomRatio indelRate indelRatePerBp deletionInsertionRatio +CountVariants dbsnp eval none all 63025520 481 0 481 7.63182913841885E-6 131030.0 481 0 0 0 0 0 0 0 298 0 183 298 0 4.73e-06 211495.00 1.63 0.00e+00 0.00 0.00 +CountVariants dbsnp eval none known 63025520 469 0 469 7.441430074674513E-6 134382.0 469 0 0 0 0 0 0 0 288 0 181 288 0 4.57e-06 218838.00 1.59 0.00e+00 0.00 0.00 +CountVariants dbsnp eval none novel 63025520 12 0 12 1.9039906374433722E-7 5252126.0 12 0 0 0 0 0 0 0 10 0 2 10 0 1.59e-07 6302552.00 5.00 0.00e+00 0.00 0.00 + +#:GATKTable:false:14:3:%s:%s:%s:%s:%s:%s:%s:%.2f:%s:%s:%.2f:%s:%s:%.2f +#:GATKTable:TiTvVariantEvaluator:Ti/Tv Variant Evaluator +TiTvVariantEvaluator CompRod EvalRod JexlExpression Novelty nTi nTv tiTvRatio nTiInComp nTvInComp TiTvRatioStandard nTiDerived nTvDerived tiTvDerivedRatio +TiTvVariantEvaluator dbsnp eval none all 382 99 3.86 203506 85497 2.38 0 0 0.00 +TiTvVariantEvaluator dbsnp eval none known 374 95 3.94 360 91 3.96 0 0 0.00 +TiTvVariantEvaluator dbsnp eval none novel 8 4 2.00 203146 85406 2.38 0 0 0.00 + +#:GATKTable:false:24:3:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%.2f:%.2f:%.2f:%.2f:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s +#:GATKTable:ValidationReport:Assess site accuracy and sensitivity of callset against follow-up validation assay +ValidationReport CompRod EvalRod JexlExpression Novelty nComp TP FP FN TN sensitivity specificity PPV FDR CompMonoEvalNoCall CompMonoEvalFiltered CompMonoEvalMono CompMonoEvalPoly CompPolyEvalNoCall CompPolyEvalFiltered CompPolyEvalMono CompPolyEvalPoly CompFiltered nDifferentAlleleSites +ValidationReport dbsnp eval none all 369102 469 0 368633 0 0.13 100.00 100.00 0.00 0 0 0 0 368633 0 0 469 0 0 +ValidationReport dbsnp eval none known 469 469 0 0 0 100.00 100.00 100.00 0.00 0 0 0 0 0 0 0 469 0 0 +ValidationReport dbsnp eval none novel 368633 0 0 368633 0 0.00 100.00 NaN NaN 0 0 0 0 368633 0 0 0 0 0 + +#:GATKTable:false:20:3:%s:%s:%s:%s:%s:%s:%s:%s:%.2f:%s:%s:%.2f:%.1f:%s:%s:%s:%.1f:%s:%s:%s +#:GATKTable:VariantSummary:1000 Genomes Phase I summary of variants table +VariantSummary CompRod EvalRod JexlExpression Novelty nSamples nProcessedLoci nSNPs TiTvRatio SNPNoveltyRate nSNPsPerSample TiTvRatioPerSample SNPDPPerSample nIndels IndelNoveltyRate nIndelsPerSample IndelDPPerSample nSVs SVNoveltyRate nSVsPerSample +VariantSummary dbsnp eval none all 1 63025520 481 3.86 0.02 481 3.86 481.0 0 NA 0 0.0 0 NA 0 +VariantSummary dbsnp eval none known 1 63025520 469 3.94 0.00 469 3.94 469.0 0 NA 0 0.0 0 NA 0 +VariantSummary dbsnp eval none novel 1 63025520 12 2.00 1.00 12 2.00 12.0 0 NA 0 0.0 0 NA 0 + diff --git a/public/testdata/exampleGATKReportv2.tbl b/public/testdata/exampleGATKReportv2.tbl new file mode 100644 index 000000000..8b300a11e --- /dev/null +++ b/public/testdata/exampleGATKReportv2.tbl @@ -0,0 +1,36 @@ +#:GATKReport.v1.1:5 +#:GATKTable:11:3:%s:%s:%s:%s:%s:%s:%s:%s:%.2f:%s:%.2f +#:GATKTable:CompOverlap:The overlap between eval and comp sites +CompOverlap CompRod EvalRod JexlExpression Novelty nEvalVariants novelSites nVariantsAtComp compRate nConcordant concordantRate +CompOverlap dbsnp eval none all 481 12 469 97.51 468 99.79 +CompOverlap dbsnp eval none known 469 0 469 100.00 468 99.79 +CompOverlap dbsnp eval none novel 12 12 0 0.00 0 0.00 + +#:GATKTable:30:3:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%.2e:%.2f:%.2f:%.2e:%.2f:%.2f +#:GATKTable:CountVariants:Counts different classes of variants in the sample +CountVariants CompRod EvalRod JexlExpression Novelty nProcessedLoci nCalledLoci nRefLoci nVariantLoci variantRate variantRatePerBp nSNPs nMNPs nInsertions nDeletions nComplex nSymbolic nMixed nNoCalls nHets nHomRef nHomVar nSingletons nHomDerived heterozygosity heterozygosityPerBp hetHomRatio indelRate indelRatePerBp deletionInsertionRatio +CountVariants dbsnp eval none all 63025520 481 0 481 7.63182913841885E-6 131030.0 481 0 0 0 0 0 0 0 298 0 183 298 0 4.73e-06 211495.00 1.63 0.00e+00 0.00 0.00 +CountVariants dbsnp eval none known 63025520 469 0 469 7.441430074674513E-6 134382.0 469 0 0 0 0 0 0 0 288 0 181 288 0 4.57e-06 218838.00 1.59 0.00e+00 0.00 0.00 +CountVariants dbsnp eval none novel 63025520 12 0 12 1.9039906374433722E-7 5252126.0 12 0 0 0 0 0 0 0 10 0 2 10 0 1.59e-07 6302552.00 5.00 0.00e+00 0.00 0.00 + +#:GATKTable:14:3:%s:%s:%s:%s:%s:%s:%s:%.2f:%s:%s:%.2f:%s:%s:%.2f +#:GATKTable:TiTvVariantEvaluator:Ti/Tv Variant Evaluator +TiTvVariantEvaluator CompRod EvalRod JexlExpression Novelty nTi nTv tiTvRatio nTiInComp nTvInComp TiTvRatioStandard nTiDerived nTvDerived tiTvDerivedRatio +TiTvVariantEvaluator dbsnp eval none all 382 99 3.86 203506 85497 2.38 0 0 0.00 +TiTvVariantEvaluator dbsnp eval none known 374 95 3.94 360 91 3.96 0 0 0.00 +TiTvVariantEvaluator dbsnp eval none novel 8 4 2.00 203146 85406 2.38 0 0 0.00 + +#:GATKTable:24:3:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s:%.2f:%.2f:%.2f:%.2f:%s:%s:%s:%s:%s:%s:%s:%s:%s:%s +#:GATKTable:ValidationReport:Assess site accuracy and sensitivity of callset against follow-up validation assay +ValidationReport CompRod EvalRod JexlExpression Novelty nComp TP FP FN TN sensitivity specificity PPV FDR CompMonoEvalNoCall CompMonoEvalFiltered CompMonoEvalMono CompMonoEvalPoly CompPolyEvalNoCall CompPolyEvalFiltered CompPolyEvalMono CompPolyEvalPoly CompFiltered nDifferentAlleleSites +ValidationReport dbsnp eval none all 369102 469 0 368633 0 0.13 100.00 100.00 0.00 0 0 0 0 368633 0 0 469 0 0 +ValidationReport dbsnp eval none known 469 469 0 0 0 100.00 100.00 100.00 0.00 0 0 0 0 0 0 0 469 0 0 +ValidationReport dbsnp eval none novel 368633 0 0 368633 0 0.00 100.00 NaN NaN 0 0 0 0 368633 0 0 0 0 0 + +#:GATKTable:20:3:%s:%s:%s:%s:%s:%s:%s:%s:%.2f:%s:%s:%.2f:%.1f:%s:%s:%s:%.1f:%s:%s:%s +#:GATKTable:VariantSummary:1000 Genomes Phase I summary of variants table +VariantSummary CompRod EvalRod JexlExpression Novelty nSamples nProcessedLoci nSNPs TiTvRatio SNPNoveltyRate nSNPsPerSample TiTvRatioPerSample SNPDPPerSample nIndels IndelNoveltyRate nIndelsPerSample IndelDPPerSample nSVs SVNoveltyRate nSVsPerSample +VariantSummary dbsnp eval none all 1 63025520 481 3.86 0.02 481 3.86 481.0 0 NA 0 0.0 0 NA 0 +VariantSummary dbsnp eval none known 1 63025520 469 3.94 0.00 469 3.94 469.0 0 NA 0 0.0 0 NA 0 +VariantSummary dbsnp eval none novel 1 63025520 12 2.00 1.00 12 2.00 12.0 0 NA 0 0.0 0 NA 0 + diff --git a/public/testdata/exampleGRP.grp b/public/testdata/exampleGRP.grp index 67a39dc3a..2ec55ec57 100644 --- a/public/testdata/exampleGRP.grp +++ b/public/testdata/exampleGRP.grp @@ -1,5 +1,5 @@ -#:GATKReport.v1.0:5 -#:GATKTable:true:1:14::; +#:GATKReport.v1.1:5 +#:GATKTable:2:14::; #:GATKTable:Arguments:Recalibration argument collection values used in this run Argument Value covariate null @@ -11,13 +11,13 @@ insertions_default_quality 45 low_quality_tail 2 mismatches_context_size 2 mismatches_default_quality -1 +no_standard_covs false quantizing_levels 16 run_without_dbsnp false solid_nocall_strategy THROW_EXCEPTION solid_recal_mode SET_Q_ZERO -standard_covs true -#:GATKTable:true:2:94:::; +#:GATKTable:3:94:::; #:GATKTable:Quantized:Quality quantization map QualityScore Count QuantizedScore 0 20 3 @@ -115,14 +115,14 @@ QualityScore Count QuantizedScore 92 0 92 93 0 93 -#:GATKTable:false:6:3:%s:%s:%.4f:%.4f:%d:%d:; +#:GATKTable:6:3:%s:%s:%.4f:%.4f:%d:%d:; #:GATKTable:RecalTable0: ReadGroup EventType EmpiricalQuality EstimatedQReported Observations Errors exampleBAM.bam.bam D 25.8092 45.0000 380 0 exampleBAM.bam.bam M 14.0483 15.4820 380 14 exampleBAM.bam.bam I 25.8092 45.0000 380 0 -#:GATKTable:false:6:32:%s:%s:%s:%.4f:%d:%d:; +#:GATKTable:6:32:%s:%s:%s:%.4f:%d:%d:; #:GATKTable:RecalTable1: ReadGroup QualityScore EventType EmpiricalQuality Observations Errors exampleBAM.bam.bam 32 M 15.1851 32 0 @@ -158,7 +158,7 @@ exampleBAM.bam.bam 45 D 25.8092 380 exampleBAM.bam.bam 13 M 6.0206 3 0 exampleBAM.bam.bam 28 M 12.0412 15 0 -#:GATKTable:false:8:1354:%s:%s:%s:%s:%s:%.4f:%d:%d:; +#:GATKTable:8:1354:%s:%s:%s:%s:%s:%.4f:%d:%d:; #:GATKTable:RecalTable2: ReadGroup QualityScore CovariateValue CovariateName EventType EmpiricalQuality Observations Errors exampleBAM.bam.bam 45 TGAAAGTG Context D 3.0103 1 0 diff --git a/public/testdata/gFFTest.gff b/public/testdata/gFFTest.gff deleted file mode 100644 index f458e4fd7..000000000 --- a/public/testdata/gFFTest.gff +++ /dev/null @@ -1,7 +0,0 @@ -SEQ1 EMBL atg 103 105 . + 0 -SEQ1 EMBL exon 103 172 . + 0 -SEQ1 EMBL splice5 172 173 . + . -SEQ1 netgene splice5 172 173 0.94 + . -SEQ1 genie sp5-20 163 182 2.3 + . -SEQ1 genie sp5-10 168 177 2.1 + . -SEQ2 grail ATG 17 19 2.1 - 0 diff --git a/public/testdata/gatkrunreport.fail.xml b/public/testdata/gatkrunreport.fail.xml deleted file mode 100644 index ba8228c3d..000000000 --- a/public/testdata/gatkrunreport.fail.xml +++ /dev/null @@ -1,50 +0,0 @@ - - yX3AnltsqIlXH9kAQqTWHQUd8CQ5bikz - - Failed to parse Genome Location string: - 20:10,000,000-10,000,001x - - org.broadinstitute.sting.utils.GenomeLocParser.parseGenomeLoc(GenomeLocParser.java:377) - org.broadinstitute.sting.utils.interval.IntervalUtils.parseIntervalArguments(IntervalUtils.java:82) - org.broadinstitute.sting.commandline.IntervalBinding.getIntervals(IntervalBinding.java:106) - org.broadinstitute.sting.gatk.GenomeAnalysisEngine.loadIntervals(GenomeAnalysisEngine.java:618) - org.broadinstitute.sting.gatk.GenomeAnalysisEngine.initializeIntervals(GenomeAnalysisEngine.java:585) - org.broadinstitute.sting.gatk.GenomeAnalysisEngine.execute(GenomeAnalysisEngine.java:231) - org.broadinstitute.sting.gatk.CommandLineExecutable.execute(CommandLineExecutable.java:128) - org.broadinstitute.sting.commandline.CommandLineProgram.start(CommandLineProgram.java:236) - org.broadinstitute.sting.commandline.CommandLineProgram.start(CommandLineProgram.java:146) - org.broadinstitute.sting.gatk.CommandLineGATK.main(CommandLineGATK.java:92) - - - Position: '10,000,001x' contains invalid - chars. - - org.broadinstitute.sting.utils.GenomeLocParser.parsePosition(GenomeLocParser.java:411) - org.broadinstitute.sting.utils.GenomeLocParser.parseGenomeLoc(GenomeLocParser.java:374) - org.broadinstitute.sting.utils.interval.IntervalUtils.parseIntervalArguments(IntervalUtils.java:82) - org.broadinstitute.sting.commandline.IntervalBinding.getIntervals(IntervalBinding.java:106) - org.broadinstitute.sting.gatk.GenomeAnalysisEngine.loadIntervals(GenomeAnalysisEngine.java:618) - org.broadinstitute.sting.gatk.GenomeAnalysisEngine.initializeIntervals(GenomeAnalysisEngine.java:585) - org.broadinstitute.sting.gatk.GenomeAnalysisEngine.execute(GenomeAnalysisEngine.java:231) - org.broadinstitute.sting.gatk.CommandLineExecutable.execute(CommandLineExecutable.java:128) - org.broadinstitute.sting.commandline.CommandLineProgram.start(CommandLineProgram.java:236) - org.broadinstitute.sting.commandline.CommandLineProgram.start(CommandLineProgram.java:146) - org.broadinstitute.sting.gatk.CommandLineGATK.main(CommandLineGATK.java:92) - - false - - true - - 2012/03/10 20.19.52 - 2012/03/10 20.19.52 - 0 - CountReads - 1.4-483-g63ecdb2 - 85000192 - 129957888 - depristo - 10.0.1.10 - Apple Inc.-1.6.0_26 - Mac OS X-x86_64 - 0 - diff --git a/public/testdata/gatkrunreport.success.xml b/public/testdata/gatkrunreport.success.xml deleted file mode 100644 index 8f89eaf46..000000000 --- a/public/testdata/gatkrunreport.success.xml +++ /dev/null @@ -1,15 +0,0 @@ - - D7D31ULwTSxlAwnEOSmW6Z4PawXwMxEz - 2012/03/10 20.21.19 - 2012/03/10 20.21.19 - 0 - CountReads - 1.4-483-g63ecdb2 - 85000192 - 129957888 - depristo - 10.0.1.10 - Apple Inc.-1.6.0_26 - Mac OS X-x86_64 - 105 - diff --git a/public/testdata/genotypes_chr1_ASW_phase3.3_first500.hapmap b/public/testdata/genotypes_chr1_ASW_phase3.3_first500.hapmap deleted file mode 100644 index cd0a1f9ad..000000000 --- a/public/testdata/genotypes_chr1_ASW_phase3.3_first500.hapmap +++ /dev/null @@ -1,500 +0,0 @@ -rs# alleles chrom pos strand assembly# center protLSID assayLSID panelLSID QCcode NA19625 NA19700 NA19701 NA19702 NA19703 NA19704 NA19705 NA19708 NA19712 NA19711 NA19818 NA19819 NA19828 NA19835 NA19834 NA19836 NA19902 NA19901 NA19900 NA19904 NA19919 NA19908 NA19909 NA19914 NA19915 NA19916 NA19917 NA19918 NA19921 NA20129 NA19713 NA19982 NA19983 NA19714 NA19985 NA19984 NA20128 NA20126 NA20127 NA20277 NA20276 NA20279 NA20282 NA20281 NA20284 NA20287 NA20288 NA20290 NA20289 NA20291 NA20292 NA20295 NA20294 NA20297 NA20300 NA20298 NA20301 NA20302 NA20317 NA20319 NA20322 NA20333 NA20332 NA20335 NA20334 NA20337 NA20336 NA20340 NA20341 NA20343 NA20342 NA20344 NA20345 NA20346 NA20347 NA20348 NA20349 NA20350 NA20351 NA20357 NA20356 NA20358 NA20359 NA20360 NA20363 NA20364 NA20412 -rs2185539 C/T chr1 556738 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs2185539:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC -rs11510103 A/G chr1 557616 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs11510103:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA NN AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA -rs11240767 C/T chr1 718814 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs11240767:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC CT CC CC CC CT CC CC CT CC CC CC CC CT CC CT CC CC CC CC CC CC CC CC CC CC CT CC CC CC CC CC CC CT CT CC CC CC CT CC CC CC CC NN CC CT CC CC CC CC CC CC CC CC CC CC CC CT CC CC CC CC CC CT CT CC CC CT CT CC -rs3131972 A/G chr1 742584 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs3131972:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ AG AG AG AA AA AA AA GG AG AG AG AA AG GG AG GG AG AG AG AA GG GG AG AG AG AA AA AA GG AG AA AG AG AG AA AG AG AG GG AA AG AG AG AA GG AA AA GG AG AG AA AA AA AA AA AG GG GG GG AG AA AA AA AA AG AA AG GG AG AG AG AG AG AG AG AG AG AG AA AG AA AG AA AG AA AA AA -rs3131969 A/G chr1 744045 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 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ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs262663:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ CC TT CT TT CC CT CC CT CC CT CC TT CT CC CT CT TT TT TT CC TT CT TT TT TT CC CT CT CC CT CT CC CC CT CT CT CT CT CT CT CC TT TT TT TT CT TT CT CC TT CT TT CT CT CT CC TT TT CC CC TT TT CT TT TT TT CT CC CT CT CC CC CT TT TT TT CC CT TT CT TT CT TT CT TT TT TT -rs262662 A/G chr1 2074893 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs262662:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ AG AA AG AA AA AA AA AG GG AG AA AA AA AG AG AA AA AA AA AG AA AG AA AA AA GG AG AG GG AG AA AA AA AG AG AG AA AA AA AG GG AA AA AA AA AG AA AA AG AA AA AA AG AG AA GG AA AA GG AG AA AA AG AA AA AA AA AG AG AA AG GG AG AA AA AA GG AG AA AG AA AG AA AG AA AA AA -rs2459984 A/G chr1 2076172 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs2459984:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ GG AG AG AA GG AG GG AG GG GG GG AA AG GG AG AG AG GG AG GG AA AG AA AA AA GG AG AG GG GG AG GG GG AG AG GG AG AG AG GG GG AA AG AG AA GG AG AG GG AG AG GG GG GG GG GG AG AA GG GG AG AG AG AA AA AG GG GG AG AG GG GG AG AG GG AG GG GG AG AG AG GG AG AG GG AG AG -rs3123592 C/T chr1 2077417 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs3123592:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ TT TT CT TT TT TT TT CT CT CT TT TT TT TT TT TT TT TT TT CT TT TT TT TT TT CC CT CT TT TT TT TT TT TT TT TT TT TT TT CT CT TT TT TT TT TT TT TT CT TT TT TT CT TT TT CT TT TT CT TT TT TT CT TT TT TT TT CT CT TT TT CT CT TT TT TT CT TT TT TT TT TT TT CT TT TT TT -rs262657 A/G chr1 2078437 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs262657:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ GG GG GG GG GG GG GG GG AG GG GG GG GG AG GG GG GG GG GG GG GG AG GG GG GG GG GG GG AA AG GG GG GG AG GG AG GG GG GG GG AG GG GG GG GG AG GG GG GG GG GG GG GG AG GG GG GG GG AG AG GG GG GG GG GG GG GG GG GG GG AG AG GG GG GG GG AG AG GG AG GG AG GG GG GG GG GG -rs262656 A/C chr1 2078614 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs262656:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ AA AA AA AA AA AA AA AA AC AA AA AA AA AC AA AA AA AA AA AA AA AC AA AA AA AA AA AA CC AC AA AA AA AC AA AC AA AA AA AA AC AA AA AA AA AC AA AA AA AA AA AA AA AC AA AC AA AA AC AC AA AA AA AA AA AA AA AA AA AA AC AC AA AA AA AA AC AC AA AC AA AC AA AA AA AA AA -rs262654 A/G chr1 2079386 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs262654:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG AG GG GG GG GG GG GG AA AG GG GG GG AG GG AG GG GG GG GG AG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG AG AG GG GG GG GG GG GG GG GG GG GG AG AG GG GG GG GG AG AG GG GG GG GG GG GG GG GG GG -rs262653 G/T chr1 2079955 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs262653:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ GG TT GT TT GG GT GG GT GG GT GG TT GT GG GT GT TT TT TT GG TT GT TT TT TT GG GT GT GG GT GT GG GG GT GT NN GT GT GT GT GG TT TT TT TT GT TT GT GG TT GT TT GT GT GT GG TT TT GG GG TT TT GT TT TT TT GT GG GT GT GG GG GT TT TT TT GG GT TT GT TT GT TT GT TT TT TT -rs262651 A/G chr1 2081257 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs262651:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ AA AA AA AA AA AA AA AA AG AA AA AA AA AG AA AA AA AA AA AA AA AG AA AA AA AA AA AA GG AG AA AA AA AG AA AG AA AA AA AA AG AA AA AA AA AG AA AA AA AA AA AA AA AG AA AA AA AA AG AG AA AA AA AA AA AA AA AA AA AA AG AG AA AA AA AA AG AG AA AG AA AG AA AA AA AA AA -rs3052 C/T chr1 2086498 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs3052:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ CC CC CT CC CC CC CC CT CT CT CC CC CC CC CC CC CC CC CC CC CC CC CC CC CC TT CT CT CC CC CC CC CC CC CC CC CC CC CC CT CT CC CC CC CC CC CC CC CT CC CC CC CC CC CC CT CC CC CT CC CC CC CT CC CC CC CC CT CT CC CC CT CT CC CC CC CT CC CC CC CC CC CC CT CC CC CC -rs262641 A/G chr1 2094841 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs262641:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ AG AA AA AA GG AG GG AA AG AA AG AA AA GG AG AG AA AA AA AG AA AG AA AA AA AA AA AA GG AG AA GG AG AG AG AG AG AG AG AA AG AA AA AA AA AG AA AG AG AA AG AA AA AG AA AA AA AA AG GG AA AA AA AA AA AA AG AG AA AG GG AG AA AA AA AA AG AG AA AG AA AG AA AA AA AA AA -rs3128309 A/G chr1 2095738 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs3128309:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ GG GG GG GG GG GG GG AG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG AG AG GG GG GG GG GG GG GG GG GG GG GG GG GG GG AG GG GG AG GG GG GG AG GG GG GG GG AG GG GG GG AG AG GG GG GG AG GG GG GG GG GG GG GG GG GG GG -rs2292857 A/G chr1 2096298 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs2292857:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG -rs1467727 G/T chr1 2099133 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs1467727:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA NN AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA AA -rs2460001 C/T chr1 2100890 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs2460001:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ CC CT CT TT CC CT CC CT CC CC CC TT CT CC CT CT CT CC CT CC TT CT TT TT TT CC CT CT CC CC CT CC CC CT CT CC CT CT CT CC CC TT CT CT TT CC CT CT CC CT CT CC CC CC CC CC CT TT CC CC CT CT CT TT TT CT CC CC CT CT CC CC CT CT CC CT CC CC CT CT CT CC CT CT CC CT CT -rs262689 A/G chr1 2103126 + ncbi_b36 bbs urn:lsid:bbs.hapmap.org:Protocol:Phase3.r3:1 urn:lsid:bbs.hapmap.org:Assay:Phase3.r3_rs262689:1 urn:lsid:dcc.hapmap.org:Panel:US_African-30-trios:4 QC+ GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG AA AG GG GG GG GG GG AG GG GG GG GG AG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG AG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG GG diff --git a/public/testdata/logisticParamsTest.list b/public/testdata/logisticParamsTest.list deleted file mode 100755 index c56f53dae..000000000 --- a/public/testdata/logisticParamsTest.list +++ /dev/null @@ -1,17 +0,0 @@ -dinuc 0,0 1,0 2,0 3,0 4,0 1,1 2,1 3,1 4,1 -AA 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -AT 0.0 5.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -AC 2.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -AG 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -TA 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -TT 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -TC 2.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -TG 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -CA 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -CT 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -CC 2.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -CG 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -GA 0.0 1.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -GT 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -GC 2.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 -GG 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 0.0 diff --git a/public/testdata/overlapTest.bed b/public/testdata/overlapTest.bed deleted file mode 100644 index 6859f1fdc..000000000 --- a/public/testdata/overlapTest.bed +++ /dev/null @@ -1,3 +0,0 @@ -20 315000 315100 # should overlap 2 in withSymbolic.vcf at 315006 and 315072 -20 316955 316959 # should overlap only deletion variant at 316952 -20 317900 400000 # should overlap only the symbolic variant at 317173 diff --git a/public/testdata/recalConfig_1KG.cfg b/public/testdata/recalConfig_1KG.cfg deleted file mode 100644 index b66dbc73c..000000000 --- a/public/testdata/recalConfig_1KG.cfg +++ /dev/null @@ -1,10 +0,0 @@ -[DEFAULT] -resources: resources -#dbsnp: %(resources)s/dbsnp_129_hg18.rod -dbsnp: %(resources)s/dbsnp_129_b36.rod - -[R] -Rscript: /broad/tools/apps/R-2.6.0/bin/Rscript -PlotQEmpStated: %(resources)s/plot_q_emp_stated_hst.R -PlotQDiffByCycle: %(resources)s/plot_qual_diff_v_cycle.R -PlotQDiffByDinuc: %(resources)s/plot_qual_diff_v_dinuc.R diff --git a/public/testdata/sampleBedFile.bed b/public/testdata/sampleBedFile.bed deleted file mode 100644 index 21be082a5..000000000 --- a/public/testdata/sampleBedFile.bed +++ /dev/null @@ -1,4 +0,0 @@ -20 0 999 -20 1001 2000 -22 1000 5000 cloneA 960 + 1000 5000 0 2 567,488, 0,3512 -22 2000 6000 cloneB 900 - 2000 6000 0 2 433,399, 0,3601 diff --git a/public/testdata/small.dbsnp.rod b/public/testdata/small.dbsnp.rod deleted file mode 100644 index d0ed14d83..000000000 --- a/public/testdata/small.dbsnp.rod +++ /dev/null @@ -1,100 +0,0 @@ -585 1 433 433 rs56289060 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 -585 1 491 492 rs55998931 0 + C C C/T genomic single unknown 0 0 unknown exact 1 -585 1 518 519 rs62636508 0 + G G C/G genomic single unknown 0 0 unknown exact 1 -585 1 582 583 rs58108140 0 + G G A/G genomic single unknown 0 0 unknown exact 1 -585 1 690 691 rs10218492 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 -585 1 766 767 rs10218493 0 + G G A/G genomic single by-cluster 0 0 unknown exact 3 -585 1 789 790 rs10218527 0 + A A A/G genomic single by-cluster 0 0 unknown exact 3 -585 1 800 801 rs28853987 0 + G G A/G genomic single unknown 0 0 unknown exact 3 -585 1 876 877 rs28484712 0 + G G A/G genomic single unknown 0 0 unknown exact 3 -585 1 884 885 rs28775022 0 + G G A/G genomic single unknown 0 0 unknown exact 3 -585 1 884 885 rs62636509 0 + G G A/G genomic single unknown 0 0 unknown exact 3 -585 1 943 944 rs10218495 0 + G G G/T genomic single by-cluster 0 0 unknown exact 3 -585 1 1016 1017 rs62635278 0 + A A A/C genomic single unknown 0 0 unknown exact 3 -585 1 1029 1030 rs62635279 0 + C C A/C genomic single unknown 0 0 unknown exact 3 -585 1 1271 1272 rs9803797 0 + A A A/G genomic single by-cluster 0 0 unknown exact 3 -585 1 1319 1320 rs2758124 0 - C C C/G genomic single unknown 0 0 unknown exact 3 -585 1 1332 1333 rs3950659 0 - G G C/T genomic single unknown 0 0 unknown exact 3 -585 1 1370 1371 rs3877545 0 - A A C/T genomic single unknown 0 0 unknown exact 3 -585 1 1404 1405 rs2758123 0 - A A A/T genomic single unknown 0 0 unknown exact 3 -585 1 1427 1428 rs2691333 0 - G G A/C genomic single unknown 0 0 unknown exact 3 -585 1 1468 1469 rs62162368 0 - A A C/T genomic single unknown 0 0 unknown exact 3 -585 1 1539 1540 rs4030196 0 - G G C/G genomic single unknown 0 0 unknown exact 3 -585 1 1554 1555 rs2363296 0 - A A G/T genomic single unknown 0 0 unknown exact 3 -585 1 1591 1592 rs4592209 0 + T T C/T genomic single unknown 0 0 unknown exact 3 -585 1 1643 1644 rs61427470 0 - C C A/G genomic single unknown 0 0 unknown exact 3 -585 1 1643 1644 rs62162367 0 - C C A/G genomic single unknown 0 0 unknown exact 3 -585 1 1649 1650 rs57905273 0 - T T -/A genomic deletion unknown 0 0 unknown exact 3 -585 1 1665 1666 rs62162366 0 - T T A/G genomic single unknown 0 0 unknown exact 3 -585 1 1730 1731 rs11510383 0 - C C A/G genomic single unknown 0 0 unknown exact 3 -585 1 1757 1758 rs4030194 0 - G G C/T genomic single unknown 0 0 unknown exact 3 -585 1 1783 1784 rs57442816 0 - T T A/G genomic single unknown 0 0 unknown exact 3 -585 1 1808 1809 rs4849250 0 - C C A/G genomic single by-2hit-2allele 0 0 unknown exact 3 -585 1 1809 1810 rs7564627 0 - G G C/T genomic single by-cluster 0 0 unknown exact 3 -585 1 1823 1824 rs2981848 0 - G G C/T genomic single unknown 0 0 unknown exact 3 -585 1 1825 1826 rs2462500 0 - G G A/C genomic single by-cluster 0 0 unknown exact 3 -585 1 1832 1833 rs7357973 0 - A A C/T genomic single by-cluster 0 0 unknown exact 3 -585 1 1863 1864 rs62028714 0 + C C C/G genomic single unknown 0 0 unknown exact 3 -585 1 1911 1912 rs7357889 0 - C C C/G genomic single by-cluster 0 0 unknown exact 3 -585 1 1936 1937 rs11510263 0 - T T A/G genomic single unknown 0 0 unknown exact 3 -585 1 1936 1937 rs62162365 0 - T T A/G genomic single unknown 0 0 unknown exact 3 -585 1 1983 1984 rs7357887 0 - C C G/T genomic single by-cluster 0 0 unknown exact 3 -585 1 2032 2033 rs2974776 0 + G G C/G genomic single unknown 0 0 unknown exact 3 -585 1 2060 2061 rs3871692 0 - G G C/G genomic single unknown 0 0 unknown exact 3 -585 1 2060 2061 rs62635282 0 + G G C/G genomic single unknown 0 0 unknown exact 3 -585 1 2065 2066 rs3871693 0 - T T A/G genomic single unknown 0 0 unknown exact 3 -585 1 2076 2077 rs2441649 0 - C C C/G genomic single by-submitter 0 0 unknown exact 3 -585 1 2090 2091 rs7340201 0 - G G C/G genomic single by-cluster 0 0 unknown exact 3 -585 1 2106 2107 rs11897134 0 - C C A/G genomic single by-cluster 0 0 unknown exact 3 -585 1 2127 2128 rs2475482 0 - C C C/G genomic single unknown 0 0 unknown exact 3 -585 1 2154 2155 rs7340200 0 - G G C/G genomic single by-cluster 0 0 unknown exact 3 -585 1 2168 2169 rs2981847 0 - G G C/T genomic single unknown 0 0 unknown exact 3 -585 1 2195 2196 rs2981846 0 - G G C/T genomic single unknown 0 0 unknown exact 3 -585 1 2245 2246 rs62635283 0 + G G A/G genomic single unknown 0 0 unknown exact 3 -585 1 2289 2290 rs28491605 0 + G G A/G genomic single unknown 0 0 unknown exact 3 -585 1 2295 2296 rs2475481 0 - A A C/T genomic single unknown 0 0 unknown exact 3 -585 1 2342 2343 rs62028715 0 + C C C/G genomic single unknown 0 0 unknown exact 3 -585 1 2351 2352 rs62028716 0 + G G G/T genomic single unknown 0 0 unknown exact 3 -585 1 2368 2369 rs2441647 0 - C C C/G genomic single unknown 0 0 unknown exact 3 -585 1 2379 2380 rs3950657 0 - G G C/G genomic single unknown 0 0 unknown exact 3 -585 1 2395 2396 rs62028717 0 + C C C/G genomic single unknown 0 0 unknown exact 3 -585 1 2469 2470 rs2974781 0 + C C C/T genomic single unknown 0 0 unknown exact 3 -585 1 2634 2635 rs11510117 0 + A A A/G genomic single unknown 0 0 unknown exact 3 -585 1 2636 2637 rs11510118 0 + G G G/T genomic single unknown 0 0 unknown exact 3 -585 1 2642 2643 rs2949418 0 + G G A/G genomic single unknown 0 0 unknown exact 3 -585 1 2645 2646 rs62635284 0 + G G A/G genomic single unknown 0 0 unknown exact 3 -585 1 2655 2656 rs11510119 0 + T T C/T genomic single unknown 0 0 unknown exact 3 -585 1 2669 2670 rs62635285 0 + C C C/T genomic single unknown 0 0 unknown exact 3 -585 1 2810 2811 rs2462499 0 - T T A/G genomic single unknown 0 0 unknown exact 3 -585 1 2886 2887 rs2462498 0 - G G C/G genomic single unknown 0 0 unknown exact 3 -585 1 2978 2979 rs62635286 0 + T T G/T genomic single unknown 0 0 unknown exact 3 -585 1 2980 2981 rs62028691 0 - A A C/T genomic single unknown 0 0 unknown exact 3 -585 1 3000 3001 rs12239753 0 + T T C/T genomic single unknown 0 0 unknown exact 3 -585 1 3016 3017 rs2691331 0 - A A C/T genomic single unknown 0 0 unknown exact 3 -585 1 3020 3021 rs12239425 0 + G G A/G genomic single unknown 0 0 unknown exact 3 -585 1 3022 3023 rs12239277 0 + A A A/G genomic single unknown 0 0 unknown exact 3 -585 1 3040 3041 rs62028689 0 - G G C/T genomic single unknown 0 0 unknown exact 3 -585 1 3164 3165 rs2691330 0 - C C A/C/G/T genomic single by-cluster 0 0 unknown exact 3 -585 1 3164 3165 rs28434453 0 - C C C/T genomic single unknown 0 0 unknown exact 3 -585 1 3164 3165 rs28532600 0 - C C C/G genomic single unknown 0 0 unknown exact 3 -585 1 3189 3190 rs2691329 0 - G G C/G genomic single unknown 0 0 unknown exact 3 -585 1 3223 3224 rs4951865 0 + G G A/G genomic single unknown 0 0 unknown exact 3 -585 1 3262 3263 rs4951866 0 + T T G/T genomic single unknown 0 0 unknown exact 3 -585 1 3286 3287 rs4951867 0 + A A A/G genomic single by-cluster 0 0 unknown exact 3 -585 1 3321 3322 rs2747970 0 - C C A/G genomic single unknown 0 0 unknown exact 3 -585 1 3335 3336 rs2592733 0 - T T A/T genomic single unknown 0 0 unknown exact 3 -585 1 3354 3355 rs28455646 0 - C C C/G genomic single unknown 0 0 unknown exact 3 -585 1 3370 3371 rs28461966 0 - T T A/G genomic single unknown 0 0 unknown exact 3 -585 1 3370 3371 rs4951868 0 + T T C/T genomic single unknown 0 0 unknown exact 3 -585 1 3419 3420 rs2981841 0 - G G C/T genomic single unknown 0 0 unknown exact 3 -585 1 3475 3476 rs4951869 0 + T T A/T genomic single unknown 0 0 unknown exact 3 -585 1 3526 3527 rs2974786 0 + T T C/T genomic single unknown 0 0 unknown exact 3 -585 1 3529 3530 rs7536480 0 + C C C/T genomic single by-cluster,by-2hit-2allele 0 0 unknown exact 3 -585 1 3530 3531 rs2691328 0 - G G C/T genomic single unknown 0 0 unknown exact 3 -585 1 3546 3547 rs4951870 0 + C C C/T genomic single unknown 0 0 unknown exact 3 -585 1 3591 3592 rs2691327 0 - T T A/G genomic single unknown 0 0 unknown exact 3 -585 1 3612 3613 rs2691326 0 - C C A/G genomic single unknown 0 0 unknown exact 3 -585 1 3638 3639 rs2691325 0 - G G C/T genomic single unknown 0 0 unknown exact 3 -585 1 3661 3662 rs7523129 0 + T T G/T genomic single by-cluster,by-2hit-2allele 0 0 unknown exact 3 -585 1 3675 3676 rs28719485 0 + T T G/T genomic single unknown 0 0 unknown exact 3 -585 1 3675 3676 rs7166048 0 - T T A/C genomic single by-cluster 0 0 unknown exact 3 diff --git a/public/testdata/testfile.sam b/public/testdata/testfile.sam new file mode 100644 index 000000000..7345c03d1 --- /dev/null +++ b/public/testdata/testfile.sam @@ -0,0 +1,450 @@ +@HD VN:1.0 GO:none SO:coordinate +@SQ SN:chrM LN:16571 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:d2ed829b8a1628d16cbeee88e88e39eb SP:Homo sapiens +@SQ SN:chr1 LN:247249719 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:9ebc6df9496613f373e73396d5b3b6b6 SP:Homo sapiens +@SQ SN:chr2 LN:242951149 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:b12c7373e3882120332983be99aeb18d SP:Homo sapiens +@SQ SN:chr3 LN:199501827 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:0e48ed7f305877f66e6fd4addbae2b9a SP:Homo sapiens +@SQ SN:chr4 LN:191273063 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:cf37020337904229dca8401907b626c2 SP:Homo sapiens +@SQ SN:chr5 LN:180857866 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:031c851664e31b2c17337fd6f9004858 SP:Homo sapiens +@SQ SN:chr6 LN:170899992 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:bfe8005c536131276d448ead33f1b583 SP:Homo sapiens +@SQ SN:chr7 LN:158821424 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:74239c5ceee3b28f0038123d958114cb SP:Homo sapiens +@SQ SN:chr8 LN:146274826 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:1eb00fe1ce26ce6701d2cd75c35b5ccb SP:Homo sapiens +@SQ SN:chr9 LN:140273252 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:ea244473e525dde0393d353ef94f974b SP:Homo sapiens +@SQ SN:chr10 LN:135374737 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:4ca41bf2d7d33578d2cd7ee9411e1533 SP:Homo sapiens +@SQ SN:chr11 LN:134452384 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:425ba5eb6c95b60bafbf2874493a56c3 SP:Homo sapiens +@SQ SN:chr12 LN:132349534 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:d17d70060c56b4578fa570117bf19716 SP:Homo sapiens +@SQ SN:chr13 LN:114142980 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:c4f3084a20380a373bbbdb9ae30da587 SP:Homo sapiens +@SQ SN:chr14 LN:106368585 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:c1ff5d44683831e9c7c1db23f93fbb45 SP:Homo sapiens +@SQ SN:chr15 LN:100338915 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:5cd9622c459fe0a276b27f6ac06116d8 SP:Homo sapiens +@SQ SN:chr16 LN:88827254 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:3e81884229e8dc6b7f258169ec8da246 SP:Homo sapiens +@SQ SN:chr17 LN:78774742 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:2a5c95ed99c5298bb107f313c7044588 SP:Homo sapiens +@SQ SN:chr18 LN:76117153 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:3d11df432bcdc1407835d5ef2ce62634 SP:Homo sapiens +@SQ SN:chr19 LN:63811651 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:2f1a59077cfad51df907ac25723bff28 SP:Homo sapiens +@SQ SN:chr20 LN:62435964 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:f126cdf8a6e0c7f379d618ff66beb2da SP:Homo sapiens +@SQ SN:chr21 LN:46944323 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:f1b74b7f9f4cdbaeb6832ee86cb426c6 SP:Homo sapiens +@SQ SN:chr22 LN:49691432 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:2041e6a0c914b48dd537922cca63acb8 SP:Homo sapiens +@SQ SN:chrX LN:154913754 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:d7e626c80ad172a4d7c95aadb94d9040 SP:Homo sapiens +@SQ SN:chrY LN:57772954 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:62f69d0e82a12af74bad85e2e4a8bd91 SP:Homo sapiens +@SQ SN:chr1_random LN:1663265 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:cc05cb1554258add2eb62e88c0746394 SP:Homo sapiens +@SQ SN:chr2_random LN:185571 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:18ceab9e4667a25c8a1f67869a4356ea SP:Homo sapiens +@SQ SN:chr3_random LN:749256 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:9cc571e918ac18afa0b2053262cadab6 SP:Homo sapiens +@SQ SN:chr4_random LN:842648 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:9cab2949ccf26ee0f69a875412c93740 SP:Homo sapiens +@SQ SN:chr5_random LN:143687 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:05926bdbff978d4a0906862eb3f773d0 SP:Homo sapiens +@SQ SN:chr6_random LN:1875562 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:d62eb2919ba7b9c1d382c011c5218094 SP:Homo sapiens +@SQ SN:chr7_random LN:549659 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:28ebfb89c858edbc4d71ff3f83d52231 SP:Homo sapiens +@SQ SN:chr8_random LN:943810 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:0ed5b088d843d6f6e6b181465b9e82ed SP:Homo sapiens +@SQ SN:chr9_random LN:1146434 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:1e3d2d2f141f0550fa28a8d0ed3fd1cf SP:Homo sapiens +@SQ SN:chr10_random LN:113275 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:50be2d2c6720dabeff497ffb53189daa SP:Homo sapiens +@SQ SN:chr11_random LN:215294 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:bfc93adc30c621d5c83eee3f0d841624 SP:Homo sapiens +@SQ SN:chr13_random LN:186858 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:563531689f3dbd691331fd6c5730a88b SP:Homo sapiens +@SQ SN:chr15_random LN:784346 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:bf885e99940d2d439d83eba791804a48 SP:Homo sapiens +@SQ SN:chr16_random LN:105485 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:dd06ea813a80b59d9c626b31faf6ae7f SP:Homo sapiens +@SQ SN:chr17_random LN:2617613 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:34d5e2005dffdfaaced1d34f60ed8fc2 SP:Homo sapiens +@SQ SN:chr18_random LN:4262 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:f3814841f1939d3ca19072d9e89f3fd7 SP:Homo sapiens +@SQ SN:chr19_random LN:301858 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:420ce95da035386cc8c63094288c49e2 SP:Homo sapiens +@SQ SN:chr21_random LN:1679693 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:a7252115bfe5bb5525f34d039eecd096 SP:Homo sapiens +@SQ SN:chr22_random LN:257318 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:4f2d259b82f7647d3b668063cf18378b SP:Homo sapiens +@SQ SN:chrX_random LN:1719168 AS:HG18 UR:/seq/references/Homo_sapiens_assembly18/v0/Homo_sapiens_assembly18.fasta M5:f4d71e0758986c15e5455bf3e14e5d6f SP:Homo sapiens +@RG ID:20FUK.1 PL:illumina PU:20FUKAAXX100202.1 LB:Solexa-18483 DT:2010-02-02T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20FUK.2 PL:illumina PU:20FUKAAXX100202.2 LB:Solexa-18484 DT:2010-02-02T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20FUK.3 PL:illumina PU:20FUKAAXX100202.3 LB:Solexa-18483 DT:2010-02-02T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20FUK.4 PL:illumina PU:20FUKAAXX100202.4 LB:Solexa-18484 DT:2010-02-02T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20FUK.5 PL:illumina PU:20FUKAAXX100202.5 LB:Solexa-18483 DT:2010-02-02T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20FUK.6 PL:illumina PU:20FUKAAXX100202.6 LB:Solexa-18484 DT:2010-02-02T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20FUK.7 PL:illumina PU:20FUKAAXX100202.7 LB:Solexa-18483 DT:2010-02-02T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20FUK.8 PL:illumina PU:20FUKAAXX100202.8 LB:Solexa-18484 DT:2010-02-02T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20GAV.1 PL:illumina PU:20GAVAAXX100126.1 LB:Solexa-18483 DT:2010-01-26T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20GAV.2 PL:illumina PU:20GAVAAXX100126.2 LB:Solexa-18484 DT:2010-01-26T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20GAV.3 PL:illumina PU:20GAVAAXX100126.3 LB:Solexa-18483 DT:2010-01-26T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20GAV.4 PL:illumina PU:20GAVAAXX100126.4 LB:Solexa-18484 DT:2010-01-26T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20GAV.5 PL:illumina PU:20GAVAAXX100126.5 LB:Solexa-18483 DT:2010-01-26T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20GAV.6 PL:illumina PU:20GAVAAXX100126.6 LB:Solexa-18484 DT:2010-01-26T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20GAV.7 PL:illumina PU:20GAVAAXX100126.7 LB:Solexa-18483 DT:2010-01-26T00:00:00-0500 SM:NA12878 CN:BI +@RG ID:20GAV.8 PL:illumina PU:20GAVAAXX100126.8 LB:Solexa-18484 DT:2010-01-26T00:00:00-0500 SM:NA12878 CN:BI +@PG ID:BWA VN:0.5.7 CL:tk +20GAVAAXX100126:8:21:18798:198557 83 chr1 9999918 60 101M = 9999594 -424 CAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCTGGCCAATTTTTTTGTATT 7A9AAA79;;.@=BAA;60@C=BCBBAC@@@5;A>A??@B6?BA;BB9BB@BBABBAABBBBBBBBBBBCBBBBBBBCBBBCBCBBBCCBBCCB@CCBB UQ:i:0 +20GAVAAXX100126:8:26:17788:24663 99 chr1 9999965 60 101M = 10000321 441 GAGTAGCTGGGACTACAGGCACCCACCACCACGCCTGGCCAATTTTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATATTAGCCAGGATGGTCTTGATC CDBACCCDBCCDADCACCCACABBBABC;BCA;BBCBCBBCDCDDDDDA@BBCDDDABCACCDCDCCCCCAD@BCABCCCCDCCBCCCCDCCCCCDDCDDD MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHGHHHHIHHHDHHHHHHHHHHHHHHHHHHHGGGGHHHHGGHGHHHHHHHHHHFHGHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:47:10796:84088 99 chr1 9999998 60 101M = 10000328 430 CCTGGCCAATTTTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATATTAGCCAGGATGGTCTTGATCTGCTGACCTCATGACCCACCCGCCTCGGCCTTC CBC@CCCCDCDDDDDAA@BCDDDAACBCCDCDCC@CCBBDBBABCCCCDCCBBCCCCC>C;BDDBDCBDBBDBDABDBCCBDACCC@AA9CCDC;DCCDED MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHGGEGHHHHGGHHHHHHHHHGHHHIHHIHHHHHHHHHHHHHHGHDHCHHHHHHHHHHHHHHHHHHHHHHHHHIGGGHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:62:7317:185100 675 chr1 10000001 60 78M23S = 10000382 415 GGCCAATTTTTTTGTATTTTTAGTAGAGATAGAGTTTCACCATATTAGCCAGGATGGCCTTAATCTGCTGACCTCATAATCACACAGCCTCGTCCTTCAAA >?78+*?88CBC24B.BBCA>6=846;8C-2@(?@10AB++7C>A/C9<>A,@?.B,()C6*B3:D8@C*+92A:BA######################## MD:Z:32G24T3G15G0 PG:Z:BWA RG:Z:20GAV.8 AM:i:25 NM:i:4 SM:i:25 MQ:i:60 OQ:Z:==76**=76BCA44A.ACC?;4:43273B,1=*=A34BB--8B7BCDB;CCCDDCCBE>D@DD MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHGGGGHHHHGGHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHFHHHHHHHEEHHHHHHHHHHHHGHBHGHH UQ:i:0 +20GAVAAXX100126:8:64:9003:28381 83 chr1 10000026 60 101M = 9999704 -422 GAGATAGGGTTTCACCATATTAGCCAGGATGGTCTTGATCTGCTGACCTCATGACCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCC DCCBDD?A2ABB@BCBCCCDC@BC@CA@AB@ABCDCBCCCCBACAACCDBCCB@BCB@CC;BCCD;BBCCDDCBDDDACBCCBBBCDCCBDBACACBBBCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HFHFHHDG9GGGGGHHHHHHHDHHGIGGFFFHGHHHHHGHHHGHGFHHHHHHHEGHHFHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:66:8049:3241 83 chr1 10000031 60 101M = 9999623 -508 AGGGTTTCACCATATTAGCCAGGATGGTCTTGATCTGCTGACCTCATGACCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGC ?DCBEEDCCCCCCCD=DBCBDCBCCBADCDCBCCCCBCCBBCCDB@CB9BCBBCC;BCCD;BBCCDDCBDDDACBCCBBBCDCBBDBACACBDCCCCA:BC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BHHHHHHHIHHHHHHBHHHHHHHHHHHHHHHHHGHHHHHHGHHHHFHHBGHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:65:18189:17218 163 chr1 10000038 60 101M = 10000302 364 CACCATATTAGCCAGGATGGTCTTGATCTGCTGACCTCATGACCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGACCGGC @CABAAABCCBBCBCCCCCCBBDCBCCBDCBDBA@BB?B@B@AC?CACC;@CD@:BBCBB>CB>=A;ACC@:CA@@@>A<@B9@;B?C4BB MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCCBCCCBCCCCBCCBBCB@BBBBBBBBBBBB>BBBABAB@BBABBBBABBAB@?AB@@@B@>9?=@BAA8A@?>@@=;?6?4?=?@6@??<@?@==8=A UQ:i:0 +20GAVAAXX100126:8:27:11272:197846 611 chr1 10000110 60 79M22S = 10000329 297 GATTACAGGTGTGAGCCACCGCGACCGGCCTGCTCAAGATAATTTTTAGGGCTAACTATGACATGAACCCCAAAATTCCTGTCCTCTAGATGGCAGAAACC 1;>5;;5?9>>;:;02<=<<5>5@;<4@9<<=:><<>=A6;*<;:=B8?)78:9::;9;####################### MD:Z:79 PG:Z:BWA RG:Z:20GAV.8 AM:i:25 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:5555551455<==@014544EEEEA>>F@>>E>AE>AAF:4+454AAF=A/=AA50=9==A7A=AF;F-;44544=5?####################### UQ:i:0 +20GAVAAXX100126:8:7:13574:93999 163 chr1 10000133 60 101M = 10000392 359 ACCGGCCTGCTCAAGATAATTTTTAGGGCTAACTATGACATGAACCCCAAAATTCCTGTCCTCTAGATGGCAGAAACCAAGATAAAGTATCCCCACATGGC @AB:AABCBBDBCBCCCCDCCCCCCCCCCDCDADB=>A@BAACD=BCCCDBBC@CCCCABBCB@CC@@AA@CBBAB?BC=ABC@CDB??A?B>AC?CCABAB?BAA?@?AA@A?@AA@<@@@@A@?;@=?A9AA@??:>B UQ:i:0 +20GAVAAXX100126:8:65:18208:188053 163 chr1 10000137 60 101M = 10000358 321 GCCTGCTCAAGATAATTTTTAGGGCTAACTATGACATGAACCCCAAAATTCCTGTCCTCTAGATGGCAGAAACCAAGATAAAGTATCCCCACATGGCCACA @CCC?@BBBDBBCAEDBBCCCCDDCDDEBECCBC?@AAB@?CCDADDDCC@AD@BCADADBCCBCC8CCCBDBABCABABBBDABDCB@C@?C@CACD?BC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCCCCCCCCCCCCCCCCCCBCCCCBCCCCCBBCCCBBBCCBBCBBBBBBBCBBBCCBCBBBBBBACBBBABBBBBBB?BB@B>BBBBABBBBBA@ABBBB UQ:i:0 +20GAVAAXX100126:8:65:17424:133143 163 chr1 10000184 60 101M = 10000444 360 ATTCCTGTCCTCTAGATGGCAGAAACCAAGATAAAGTATCCCCACATGGCCACAAGGTTAAGCTCTTATGGACACAAAACAAGGCAGAGAAATGTCATTTG @CBA@BAABCDBDACCBBCBC=CDDACCDCCCCDCB;BBABCCC?CCBCC@BAADCBBCBBBBBBD@CBB@DBA?BBBB?@BBABCCC=BAAA@A@CBAAB MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBCBBABBBBBBBB@BBBB9BBBBBBBBBBBBBB?BBBBBBBBBAABBAABBAAA:AAAABABAAB@A@ABA@A@A>@?A?@A@@@>>A>>@9@@=?;A UQ:i:0 +20GAVAAXX100126:8:24:16681:115751 83 chr1 10000185 60 101M = 9999853 -432 TTCCTGTCCTCTAGATGGCAGAAACCAAGATAAAGTATCCCCACATGGCCACAAGGTTAAGCTCTTATGGACACAAAACAAGGCAGAGAAATGTCATTTGG 6EA6DADD?DCCD@CCCB?DBDDCCBDDBCCDDDACCDCCCBBBCCBB@BBBDDBADCDCBCDCDCCCBBBBC=>DDBBDDBBBDBDBDD@CADCCDBCBC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:23 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:5HG;HHHHEHHHHGHHHHDHHHHHHHHHHHHHHHHHHHHHHHGHHHHHFHHHHHHHHHHHHHHHHHHHHHHHHEEHHHHHHHHHHHHHHHFHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:65:2449:158320 147 chr1 10000187 60 24S77M = 9999832 -431 AACTATGACATGACCCCCAAAATTCCTGTCCTCTAGATGGCAGAAACCAAGATAAAGTATCCCCACATGGCCACAAGGTTAAGCTCTTATGGACACAAAAC #########################@<=?>?A@67C@?A@>?4BACB=D?>A==@;?BBCBACBCCDCADCCDBCACDACCCBBBBAA@BA@ MD:Z:77 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:#########################?:?::?><68B>?@??;1??@@@A>@@;@@@@@?>A@@A?AB@AA@BABBBBBBBBBBB?BBBBBBBABABBCBBB UQ:i:0 +20GAVAAXX100126:8:66:6889:6402 163 chr1 10000196 60 74M27S = 10000514 418 TAGATGGCAGAAACCAAGATAAAGTATCCCCACATGGCCACAAGGTTAAGCTCTTATGGACACAAAACAAGGCAGAGAAATGTCATTTGGCATTGGTTTCA @C<B>?A@BDD?<=?DD>-A=C?=?;97A7B<=7>532;C><9B7D=8<2:B############################ MD:Z:74 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BC;9B:=>:B>=>;=B;B@>7;;-08B9@7A6B:562)8B##################################################################################### MD:Z:13C21 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:1 SM:i:37 MQ:i:29 OQ:Z::B5BCB=6,A4:1)4@##################################################################################### UQ:i:8 +20GAVAAXX100126:8:65:18189:17218 83 chr1 10000302 60 101M = 10000038 -364 CCATAGCAACATTTGTAAATGACCAGCCTGATGGGCTGGCTTGAAAACTTGGCTTATAGGCATCCTAAACCCACGTTCTATCCCCTGATACTCCCCTCTTC DDCDDCCDCCCDDCACDDCBBCCBDBCCCBCCBBBCCCBBDCBDDDBCDCBBCDCCCCBBBCDCCCDD@CCBA;ADDCCCDCCCCCBCCBCDCCCCDADDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHIHHHHHHHFHHHHHHHHHHHHHHHHHHHIHHHHHHGHHHHHHHHHHHHHHHHHHHHHFHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:4:6560:50417 163 chr1 10000312 60 76M25S = 10000637 425 ATTTGTAAATGACCAGCCTGATGGGCTGGCTTGAAAACTTGGCTTATAGGCATCCTAAACCCACCTTCTATCCCCTGATACTCCGCTTTTCATTACAGCAC ?>9?=7;BA;:B;/5BCD?CCC>)A8=:$;30B474@>8<8?*B)BE7?@+?<.-/+39978BCAA########################## MD:Z:64G11 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:?;9=:18A?7:???B:B<4-4;,6ACB8?>'=60A627@:6<8A*@*>B58>+?;+-,)69259@CB@########################## UQ:i:14 +20GAVAAXX100126:8:26:17788:24663 147 chr1 10000321 60 15S86M = 9999965 -441 AGCAACATTTGTAAATGACCAGCCTGATGGGCTGGCTTGAAAACTTGGCTTATAGGCATCCTAATCCCACGTTCTATCCCCTGATACTCCCCTCTTCATTA ################B=?@@@B@>>4:CB5;C??BDB@@3>BBB8&4BCB;?DCCCB@CCDCBACA@?@=>2:?>77@>B@BB??=@?BA@B?AA>>>AAB=;2?BBB<(9BBAB@BBBBA=BBCCAABA7@BBBBBBBBBBCBCB UQ:i:5 +20GAVAAXX100126:8:3:21049:178760 163 chr1 10000325 60 95M6S = 10000650 425 CAGCCTGATGGGCTGGCTTGAAAACTTGGCTTATAGGCATCCTAAACCCACGTTCTATCCCCTGATACTCCCCTCTTCATTACAGAACAACAAAGAAAGAC @CBAABACCBCCBCBCBDC?CDDEADCCCBDCAAB=?==@@CBCBD8CCC?;CAAD=C@BBC?>BA=?C>?=CA@CB?B4>?####### UQ:i:0 +20GAVAAXX100126:8:47:10796:84088 147 chr1 10000328 60 101M = 9999998 -430 CCTGATGGGCTGGCTTGAAAACTTGGCTTATAGGCATCCTAAACCCACGTTCTATCCCCTGATACTCCCCTCTTCATTACAGAACAACAAAGAAAGACAAA ;?@B::A5;?8B:9@?=@DB@B@97@>4':8>B>?>?@>:BC>CCAC6AC>C@CCCABBCBB?>A3>CCCBCBCBD@B?BEBCACCAACCDBCBCA@ABC@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z::7>@55<37=6=;6:9A;78?>3'4::>>A;;@<;AA8AB>>?AB@A@AABB@BBBBA@B3@BBB@B?ABC=A:ACBCBCBBBBBBBBBBBBBBBB UQ:i:0 +20GAVAAXX100126:8:27:11272:197846 659 chr1 10000329 60 22S79M = 10000110 -297 GCAACCTTTGTAACAGACCTGTCTGATGGGCTGGCTTGAAAACTTGGCTTATAGGAATCCGAAACCTACGTACTATCCCCTGATACTCCCCTCTTCATTAC #######################@1>:@C3ACBB1*?CA7(-)87)'>%.(-65;B&@<765@=B3@2C5;C7,*?76@A; MD:Z:33C4T5C4T29 PG:Z:BWA RG:Z:20GAV.8 AM:i:25 NM:i:4 SM:i:25 MQ:i:60 OQ:Z:#######################?0=8??0>?839350@@);A?0)@1*?BBC@-,ACA@)/,6=)):*-)(128@)>;333?;@1=7B6;B3+*@33AB7 UQ:i:34 +20GAVAAXX100126:8:5:4250:100581 147 chr1 10000330 60 9S92M = 10000006 -415 TGACCAGCCTGATGGGCTGGCTTGAAAACTTGGCTTATAGGCATCCTAAACCCACGTTCTATCCCCTGATACTCCCCTCTTCATTACAGAACAACAAAGAA ##########?A>@==??B79=@819@;>8@BBA=@;5?A>@=::BA;B?:>>B?A;5@>?@=BBBBCCCCCCBCDCBCDCBBCBCABCAAAACBC@ MD:Z:92 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:##########?>>>7:>==77<<817?9:1@?A@??86<@@><4:??=?>?A@7@@@?@A>6A@AA?AAA@B@BBBB@BBABBBB@BBBBBBBBBBBBBBB UQ:i:0 +20GAVAAXX100126:8:65:18208:188053 83 chr1 10000358 60 101M = 10000137 -321 TAGGCATCCTAAACCCACGTTCTATCCCCTGATACTCCCCTCTTCATTACAGAACAACAAAGAAAGACAAATTCTTAGCATAAAGTACACCAGATTTGCTA DECCCCDDCCA@>BBAC9ADDCCCDCCCCCBCCCCDCCCCDCDDBCDCBBCBDBBDB@@DDBDDCBBBDDCDDCDCDBBCCDDDACBBCCBDBCDDC@BCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHGGAGGFHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:62:7317:185100 595 chr1 10000382 60 66S35M = 10000001 -415 TTAAATGTCCAGCATGATGGGCTGGCTTGAAAACTTGGCTTATAGGCATCCTAAACCCACGTTCTATCCCCTGATACTCCCCTCTTCATTCCAGAACAACA ##################################################################################################### MD:Z:24A10 PG:Z:BWA RG:Z:20GAV.8 AM:i:25 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:##################################################################################################### UQ:i:2 +20GAVAAXX100126:8:7:13574:93999 83 chr1 10000392 60 101M = 10000133 -359 CTCCCCTCTTCATTACAGAACAACAAAGAAAGACAAATTCTTAGCATAAAGTACACCAGATTTGCTACAGCCTAAGACTGGTCTGACAAATCCTTTTTTTC DEDDDCDCDDCCDCCBDBDCBDC@ADDBDDDBCBDDCDCCDCDBBCCDDDACBBBCBCBCDDCBCCBBCBCCCDDBBCCBADCCBBBDDCDCAADDDBDDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHGHHHHHHHHHHHHHIHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHH UQ:i:0 +20GAVAAXX100126:8:25:6601:158705 99 chr1 10000400 37 101M = 10000802 436 TTCATTACAGAACAACAAAGAAAGACAAATTCTTAGCATAAAGTACACCAGATTTGCTACAGCCTAAGACTGGTCTGACAAATCCTTTTTTTCTACTAATC 8;>7=;A?@5>>=>>;3>6=5=4328<::9;;=;:<6198=*7;9>A>??;<:>>?>B6==:41>A:4;, MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:37 MQ:i:29 OQ:Z:@CCEE@CCC;44444A7A;<7<863@<===55444=:1===,:@@FFFFD@==CAE88CE>9@0 UQ:i:0 +20GAVAAXX100126:8:4:15177:54134 99 chr1 10000435 60 101M = 10000750 415 GCATAAAGTACACCAGATTTGCTACAGCCTAAGACTGGTCTGACAAATCCTTTTTTTCTACTAATCAGACCCTCGCAGAGAAGACAAATAGTGGCATTTAC CBCACDDC@CACAB-CDCDDBBCCACCBBDCDCDACBCABDBDACDDCBBCDDDDDA>CAADBDCBBCDABBDB;BCCDCDDCDACDDCCCBCDCDCDBDB MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHIHHHHH-HHHHHHHHHHHHHHHHHHHHHHHIHHHHHHHHHHHHHHHHHGEGGHHIHHHFHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHIFHH UQ:i:0 +20GAVAAXX100126:8:65:17424:133143 83 chr1 10000444 60 101M = 10000184 -360 ACACCAGATTTGCTACAGCCTAAGACTGGTCTGACAAATCCTTTTTTTCTACTAATCAGACCCTCGCAGAGAAGACAAATAGTGGCATTTACCGTTTACAC DDCDCDCCDDCBCCCBDBCCCDDBBCCBADCCBCBDDCDCBAAADDDDCCBCCDCDBCBBCCCD;BBCBCBDDBBBDDCCDACBBBCDDCCC;ADDCABCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGGGHHHHHHHHHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:61:14621:35929 163 chr1 10000470 60 101M = 10000818 448 TGGTCTGACAAATCCTTTTTTTCTACTAATCAGACCCTCGCAGAGAAGACAAATAGTGGCATTTACCGTTTACACAACATATACAGAGAGAGAGAGACCAG =BC@ABAAAC=DCADDBBCCCCBDCBDCEDCC@C?B>C<:@CAC?BDB@@@BDACCACCCAC6?AA>8BCACA?>AB?CBA9C?BDDB>C@>C@DACB>@7 MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:CCBBB=A?ACCB?DDBC>5@@?>:?BBC@DBC@C@?;;7=>9>=>;@?AACCBACDDBDCDAD@?D:=?=><===?? UQ:i:0 +20GAVAAXX100126:8:21:13663:85034 163 chr1 10000518 60 86M15S = 10000794 376 ACAAATAGTGGCATTTACCGTTTACACAACATATACAGAGAGAGAGAGACCAGAAACTTGGCTGGTAAGAATTTCTTCCTCTGGCCAGGAGCGGTGGCTCA @ABCBABBBBCBCABCCAC;ACCCACBCDACCCCB>ABBBAABC@CCCBA@CC@DDADCA?BB?CB=CABACCA@CB@A=@@A@@@A@=;@@>???################ UQ:i:0 +20GAVAAXX100126:8:68:13621:42696 595 chr1 10000556 29 66S35M = 10000250 -340 TTCTACAAATCAGACCCTCGCAGAGAAGACAAATAGTGGCATTTACCGTTTACCCAACATATACAGAGAGAGAGAGACCAGAAACTTGGCTGGTAAGCATT ##################################################################################################### MD:Z:31A3 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:1 SM:i:0 MQ:i:37 OQ:Z:##################################################################################################### UQ:i:2 +20GAVAAXX100126:8:4:6560:50417 83 chr1 10000637 60 101M = 10000312 -425 TTGGGGAGGTTGAGGCGTGTGGATCAGAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTG A37:<;++7+::2%848-8:909::>9;;;:9<:<;6,:A>;<<==;6>=<@BB:B@@=>;=AC=D;;7778A@=D>CBA@>DD>C39@>=@>;;=:8:6: MD:Z:2T6C7G83 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:3 SM:i:37 MQ:i:60 OQ:Z:E84<@<-05-443(444/4553<<=<@@=@>544446-=DA?@?A?=:A?=EHH=HFFDDBEHHEH55445FHDDHCHHGCCHHEH11444FDBBDBFEBE UQ:i:44 +20GAVAAXX100126:8:3:21049:178760 83 chr1 10000650 60 101M = 10000325 -425 GGCGGGTGGATCAGAAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGTGG DD;CCADCCCDCDBDDCADBDDBDBCDCBDBBCBCDCCCBBCBDCBCCBACBDDBCCC;ADCDCCBCA@DDDCAABDDDDCDCDBCCBBBBCCCACC?CBC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHGGHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:4:15177:54134 147 chr1 10000750 60 101M = 10000435 -415 GGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCTAGATCACGCCACTGCACTCCA CA8@1@B?BC>D?BCDBBCAB>CBBACABDABEC?CDBBDACCCCCCAC@@ACDCDACDC@BAABB@DCBCDACBDBCCCDBCCBA;ACA,ACBA@ABCB@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:A<>;2>=?A@?@@AAAAAA?B=BABBABABABBBBBBBBBBBB@BBBBBCA;BBBBBBBBBBBBBBBBBBBBBBBBBABBBBBBBBBBB@)@BBB@BBBBB UQ:i:0 +20GAVAAXX100126:8:21:13663:85034 83 chr1 10000794 60 101M = 10000518 -376 TGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCTAGATCACGCCACTGCACTCCAGCCTGGCGACACAGCGAGACTCCGTCTCAAAAAAAAAAATAATA =0;BC@D>>>>>>>=DDCCBBCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:@8@FFFH@FDHHHHHHHHHHIHHHHHHHHDHHHIHHEHHGHEHHHHGHGBHFHFHHHHFHHHHFHHHHHHHHHEHHHEHHGHHHEEEEEEEEEHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:25:6601:158705 147 chr1 10000802 29 66S35M = 10000400 -436 TGTACATGGTGGTGGGAGCATGGAGTCCCACCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTTAACCCAGGAGGTGGAGCTTGCAGTGAGCCTAGATCAC ##########################################################################??=9;5*BBA6:?9'@5;096;>8?B? MD:Z:14G20 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:1 SM:i:0 MQ:i:37 OQ:Z:##########################################################################@;9654)@@@35@<'<5;-:/<<5@?? UQ:i:9 +20GAVAAXX100126:8:61:14621:35929 83 chr1 10000818 60 101M = 10000470 -448 TGCAGTGAGCCTAGATCACGCCACTGCACTCCAGCCTGGCGACACAGCGAGACTCCGTCTCAAAAAAAAAAATAATAAATAAGAAAAGGAAAAAAAAGAAT 7D2DAD@AAA?@DBC??@9;=>AAC?BBCDCADABCCCB;BCB@BDB;BDB?CDC;ADADA@@@@A@@>@DCCDCCDDCBADBDDDDB@AAAAADDD@CCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:5H8HHHGDFFEFHHHCDDFBBDFFHEHHHHHFHFGHHHHHHHIDHHHHHHHDHHHHHHGHGGGGGGGGEGHHHHHHHHHGGHHHHHHHGGGGGGHHHHHHH UQ:i:0 +20GAVAAXX100126:8:22:20335:91038 163 chr1 10000847 29 68M33S = 10001097 350 TCCAGCCTGGCGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAATAAAAAAAAAAAGAAAAAAAAAAAAAAAAATAAAGGAAAAGCCAAATGCAGAGAA @BBBAABCBCA;A@B@CBA:CBB?CBC;BBDB9ACC?<@A??2)<4';C72<8)AC;%7(=CCBCD=################################## MD:Z:43T6T2G5G8 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:4 SM:i:0 MQ:i:37 OQ:Z:BBBBBBBBABABABAABAAAAA??ABBB?ABA7?BBA>AA@?2(?4'8A22;3'AAAAA?################################## UQ:i:40 +20GAVAAXX100126:8:65:4263:123939 99 chr1 10000877 60 101M = 10001182 403 CAAAAAAAAAAAATAATAAATAAGAAAAGGAAAAAAAAGAATACAACTCAGGAACAGCCAAATGGAGGAGATGCATGGGACAAGGTTTAGTGGGGGGCTGC CCDBDDD>>>??>A>?A?DDCCDCDDD?=CDDDDDD??>@A@C>CDADBCCCBDACCBACDDCBCDCCDCA:;9:B@@ABACBACAB@>;::555@?>DD5 MD:Z:0T0C99 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:2 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHEEEEEECEECFHHHHHHHHHEEHHHHHHHEECECCHFHHHHHHHHFHHHHHGHHHHHHHHHHHE@B@=GGFFGHHFGHDFDD?54444CCCHH5 UQ:i:68 +20GAVAAXX100126:8:48:15961:32254 675 chr1 10000919 29 27M74S = 10001301 416 ACAACTCAGGAACAGCCAAATGGAGGATTTGCGCGGGCCTTGGTTTAGTGGGCGGCGGCGGAGCTTTCTCGCCCTCCGCAAGTGAATCACCCTTCCAGTGC 8=1==>?4A############################################################################################ MD:Z:27 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:0 SM:i:29 MQ:i:29 OQ:Z:3=BCBBAC;@::3;>78;5A@############################################### MD:Z:55 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BB=5@BA@<;>ABBAA@7@A:/9@=55@<4@9)9@84@>69=70(=9:56>5;A############################################### UQ:i:0 +20GAVAAXX100126:8:22:20335:91038 83 chr1 10001097 37 101M = 10000847 -350 AAATTGAAAAGAAAATCCTAACTTTCCAAGCCTAAGTAACAAAAGGACCAGAGGCTACCCCTTTGCAAACCCCTACCTTTTCTGTGGCAGATGGGAAATTG EECED?@?ADCDDB@CCCCD;CDDDCBDDBCCCDDABAABDDDDBBBCBDBCBBCC@CCCCDDCBBDD:CCCCCACCDDDDCCACBBBDBCCBCBDDADCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:37 MQ:i:29 OQ:Z:HHHHHEGEGHHHHFEFHHHHBHHHHHHHHHHHHHHHGGFHHHHHHHGHHHHHHHHHFHHHHHHHHHHHCHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:48:6949:111164 99 chr1 10001106 60 101M = 10001431 425 AGAAAATCCTAACTTTCCAAGCCTAAGTAACAAAAGGACCAGAGGCTACCCCTTTGCAAACCCCTACCTTTTCTGTGGCAGATGGGAAATTGTAAGTACCT CCCBDDCBBDCDADDDBBCDCBBDCDCBCDACDD@ACDABCCDCCBCCABBBDDDBBCDDABBCDCABDDDDBDBCBCBBCA?A@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGH@HHHHBGGEFFFFFGAFFFA UQ:i:0 +20GAVAAXX100126:8:21:7038:31450 99 chr1 10001134 60 101M = 10001404 359 AACAAAAGGACCAGAGGCTACCCCTTTGCAAACCCCTACCTTTTCTGTGGCAGATGGGAAATTGTAAGTACCTCTAATTAATTAATTAATTGCCTTTTTTT CD@ADDAACDABCCDCCBDCABBBDDDBBCDDABBBCCABDDDDBCBBBCBCCDCBCC;DDCDBBCDC=CABDBDCDCDCDCDCDCDCDCDCCADDDDDE@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHBHHHHHGHHHAHHHHHHHHHHHHHHHHHHHIHHHHGHHHHHHE UQ:i:0 +20GAVAAXX100126:8:65:4263:123939 147 chr1 10001182 60 2S99M = 10000877 -403 GTTGCAGATGGGAAATTGTAAGTACCTCTAATTAATTAATTAATTGCCTTTTTTTTTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGT ###B;?C2%CCD@=1?CC??ACCDACCCCABCB?ACBBCCBCA?CABBC@AAAB@? MD:Z:0G98 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:###@5;B/%9>.>A>@:6:>?99>A8-A?B7;@0<98=>;@=B4B@D=<>9>,1)@7A;:*3;3;,A2=-:+:A4A=AD=-=AB8:2C?8@.ABC=>8;<*/)=:A=>+5@4=+>.:14*9@1>>>B=,:A@6>1A?8?CB=3+@@- +20GAVAAXX100126:8:25:1952:6902 147 chr1 10001276 60 14S87M = 10000924 -438 GCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTTGCTGCAACCTCCACCTCCTGCGTTCAGGTGATTCCCCCACACTTACTGGGCTGCATTCCCAGAAGG ###############BB:;?9ABA?>A=C=4?CBC4DC@DCC@;=DCACB@B@BCC=CBCCBBBCDCACDDCBCCABCCBBBAA?@CD@ MD:Z:16G70 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:###############??:4>:B=@?=?>?6;BA>ABABAB4859A@B4BBABBA>BABBABBBBBBBA=BABCBB@CBBBBCCBBCBCBCBCCCCCCCCCB UQ:i:27 +20GAVAAXX100126:8:48:15961:32254 595 chr1 10001301 29 66S35M = 10000919 -416 TTTTATGAGACAGAGTCTCTCTCTGTTTCCCAGGCTGTAGTGCAGCGCCACCATCTAAGCTTGCTGCAACCTACACCTCCTGCGTTCAGGTGATTCCCCCA ##################################################################################################### MD:Z:6C28 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:1 SM:i:29 MQ:i:29 OQ:Z:##################################################################################################### UQ:i:2 +20GAVAAXX100126:8:22:20896:187194 83 chr1 10001303 60 101M = 10000959 -444 ACCTCCACCTCCTGCGTTCAGGTGATTCCCCCACACTTACTGGGCTGCATTCCCAGAAGGTTAAGGCATTCTTAGTCACAGGATGAGATAGGAGGACAGCA 7ADDAC8A;.?C>B;ADDCDBABB@D=:BB@AAAAAABBCCB=ACAABCAA:CBCBDCB@GGFFFFFFGGGHGHEGHEGHHGF@HHHHHHHAHHHHHEFHHGHHHHHHHHHHHHHDHHFHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:63:14360:55959 163 chr1 10001309 60 101M = 10001646 437 ACCTCCTGCGTTCAGGTGATTCCCCCACACTTACTGGGCTGCATTCCCAGAAGGTTAAGGCATTCTTAGTCACAGGATGAGATAGGAGGACAGCACAAGAC @ABCAACBB;ACBBCC@BCDCBCCCCCACADCCBCAA@ACBBCCABCCCCABCACDCDBCACCBBD@CCB@DBAAB?ACBBBCABDBB@C>BBAC?C=@EA MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBBBBBBBBBBBB=BBCBBBBBBBBBBBBBCBBBABBBBBBBBBBBBBABB?BBBABBBBBBBBBBABBBB@B>AB@B@AABA>BA?@ABAAAA5>@B UQ:i:0 +20GAVAAXX100126:8:23:14390:98082 99 chr1 10001338 60 101M = 10001748 510 CTTACTGGGCTGCATTCCCAGAAGGTTAAGGCATTCTTAGTCACAGGATGAGATAGGAGGACAGCACAAGACACAGGTCACAAAGACCTTGCTAATAAAAC CDCAADCCCBDBBCCDBBBCCDDCCBDCDCCBCCDBCDCCBBCACCCDCBDCDCCCCDCCDACCBCACDCDACACCCCBCACADCDAADDCCDCACDE@@> MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHIHHHHGHHHHGHHHHHHGHHHGGE UQ:i:0 +20GAVAAXX100126:8:42:20734:56938 633 chr1 10001343 23 66S35M = 10001343 0 ACAGACATCTGAACCAGAGAAACCAAAGGTTGTATAGAATCTGTGTAAAATGAAGTTGATGCCGAATGGGGTGCATTCCCAGAAGGTTAAGGCATTCTTAG ################################################################################################948>8 MD:Z:4C30 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:1 SM:i:23 OQ:Z:################################################################################################@@@G@ UQ:i:2 +20GAVAAXX100126:8:42:20734:56938 693 chr1 10001343 0 * = 10001343 0 CGTTTCATGGAGCTGGAAAGCTAGAGCTTTCCTCTAAAAGGCAGGAAGATGGGTGCTAGTCACAGCTCTAATCCTAAATTGTGAAACCTTAAGCAATTCAT ##########################################################################################AB%6/>:)*?> PG:Z:BWA RG:Z:20GAV.8 OQ:Z:##########################################################################################@?'3-?6))>= +20GAVAAXX100126:8:63:8225:63647 163 chr1 10001369 60 69M32S = 10001736 467 CATTCTTAGTCACAGGATGAGATAGGAGGACAGCACAAGACACAGGTCACAAAGACCTTGCTAATAAAACAGGTTGCGGTAAAGAAGCCAGGAAAAACCAC @AAA>?>BB=@ACCC@@52B,B47>48A?>?B:A76:<<>5@>.C/?B8C;1?<)?0B################################# MD:Z:69 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:@=A@>?;BC6=A>B??B@=:>>BBB?=13@,@27@8=AA@AA>>9959;=6?8-@-==6B>.?;)>0@################################# UQ:i:0 +20GAVAAXX100126:8:21:7038:31450 147 chr1 10001404 60 11S90M = 10001134 -359 GGAGGACAGCACAAGACACAGGTCACAAAGACCTTGCTAATAAAACAGGTTGTGGTAAAGAAGCCAGGAAAACCCACCAAAACCAAGATGGTGATGAGAGT ############ACACB>ABA?@@;=BBDB>CB?7>C?CA=CCDBCCAAA@ABC@BACBABCABACBBCCCBCCCADBCCCBDCCDCBCCACBCA@BACA@ MD:Z:90 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:############A@>>A:>A?@;@9<@AA?>B@=9B78D?*7DB?B@ABBBCC;@CB>CBBCCCCBDACC@CACBCACDBC@BB>B@CCCCACCECCCCBBCCBCCBBCBCCBAB@A@BD@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:A:->@:/;3?5;6?8=77B>)7A@?A@@@@AA@6BAA>BABBA?BABABBAABBABBBBBBBBBABABBBBBBBCBBBBB@CBBBBBBBCBCACACBCCBB UQ:i:0 +20GAVAAXX100126:8:41:12744:193967 163 chr1 10001443 60 101M = 10001607 264 TGTGGTAAAGAAGCCAGGAAAACCCACCAAAACCAAGATGGTGATGAGAGTGGCCTCTGGTCTTCCTCACTGCTCATCATACACTAATTATAATGCATTAG @CAA?B=ABCDDDADCCACCDDD@CBAAA8?>9<7:>BB)@8=A9CBBC@>6:@=?9AAB=BB>AA;@AABBBBCBBBBBBBBABBABA3>>>?*<6>>=?=A??=2:>=:@@99@;@@@=9?@@A?=:=<1=?<4@:7:<6:?672 UQ:i:0 +20GAVAAXX100126:8:67:20277:111625 163 chr1 10001509 37 90M11S = 10001528 88 TCACTGCTCATCATACACTAATTATAATGCATTAGCATTAGCACCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGGTAGATCGGAAGAG @CB>B>AB>B;A:C@ADDC@DBC<=A7=<=@>@AA@B@>D60@ACD?AC?>CCBCA7>B?=7CA:A>BAB::@D,;C4@6;;@9C;C= MD:Z:51G35T1T0 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:3 SM:i:37 MQ:i:37 OQ:Z:BCC@B?BABBBCA<:<<7B?ABCC?CAA<@B<@?@C?@BB??@>C;-@BBB>>A>?BBBBC::A=>1@@=A=C==BBBA:=B06B1=1:BB4>7<: UQ:i:60 XT:i:90 +20GAVAAXX100126:8:2:15613:129653 99 chr1 10001516 29 101M = 10001879 396 TCATCATACACTAATTATAATGCATTAGCATTAGCACCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGAT CBCABCCCACADBDCDCCCDCBBCCDCCBCCDCCBCABBCABCA;BBBCCBDCDCDDDDBBBCDDDAACCCCBCDA;CCC;DDDCACCCCCDCC>CDDDE= MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:0 SM:i:29 MQ:i:29 OQ:Z:HHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHGGHHHHGHHHHHHHCHHHHHHHHHIHHICHHHHH@ UQ:i:0 +20GAVAAXX100126:8:6:3004:12551 675 chr1 10001521 29 74M27S = 10001879 391 ATACACTAATTATAATGCATTAGCATTAGCACCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGTCCAGGATGGTCT @B6ACD@@CC?;A:9>C9=/;>9=@.7?9C############################ MD:Z:74 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:0 SM:i:29 MQ:i:29 OQ:Z:B@7=ABCBBB@>=?@8:@:@AC>?BB=:@:6=:@BB;??8;3@5=@;(3@3=B=;;4@+4B;A############################ UQ:i:0 +20GAVAAXX100126:8:67:20277:111625 83 chr1 10001528 37 31S70M = 10001509 -88 CTCTTCCGATCTTCACTGCTCATCATCCACTAATTATAATGCATTAGCATTAGCACCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTT ################################=?:69;;3:-;;9>-2;<:=/=.78=48>195?@9?==B<-48>==02=?>?AB?:>A>?<<8=?7<=< MD:Z:32G37 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:37 OQ:Z:################################AA>655515/555502555514'4442440@3CC@DADG?08:A44114DADGG55444DD:FDFFGGG UQ:i:20 XT:i:90 +20GAVAAXX100126:8:21:3663:199637 99 chr1 10001543 60 101M = 10001860 376 GCATTAGCACCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTCATCATCC CBCADCCCCABBCABCA;BBBCCBDCDCDDDDB@ACDDD@BCBCCDCDA;CCCBDDDCABCCBCDBCBBCCCDCBCBBDBBCCBDBDDCDACDCDCCDCDD MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHEGHHHHGGHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:63:4634:186518 99 chr1 10001553 23 71M30S = 10001924 425 CCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTCATCATCCGCCCACCTCA :<>6=@>8@??;=:?>>5;;@AA@;3::83;=;:4B>=@@<<;9;9:;;;=7:;;=7;;<@;>?=############################### MD:Z:71 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:23 MQ:i:29 OQ:Z:EFCFDFFFFFFBABBF@AAAEC;@>FFFF@6=@=844445GEEEF44455:>=@=4555555555CCCCA############################### UQ:i:0 +20GAVAAXX100126:8:26:17894:31587 163 chr1 10001582 60 97M4S = 10001891 407 TAGTAGAGACGGGGTTTTACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTCATCATCCGCCCACCTCTGCTTTCCGCAACCAATCGGACTGATTACA @CBAAABBCA:CCBBCCCCACCCBACBCCCC@@BBA?>?C8C@C@BCDCA@>CACCAB@A@C9>CA9@BC@B?@=<@BCC>;48?@BBB##### MD:Z:97 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBAABABBBABBBABBBBBBBBBBBBABBB>?@BBA@AB;B@BB@BAA@A@AABA@?>?AA@?B>=?9????<=5:;??=?##### UQ:i:0 +20GAVAAXX100126:8:41:12744:193967 83 chr1 10001607 60 101M = 10001443 -264 TGGCCAGGATGGTCTCCATCTCTTGACCTCATCATCCGCCCACCTCTGCTTTCCGCAACCAATCGGACTGATTACAGGCCACTACTTCACCTCATTTACAT A>CACBC>CC@AC?CCBCAAD@ABBCA>B@CDB@D>;?CCBACCCCCBC?D:C;BB@BCBDCD;BBBCCBCDCBBDBBCBCCCBCDDB@CCCCBBC;=:?<:;===DAADD?B9:?8C>AB::+09@A=A>=:9:>A>HFFHHDFB@D:HEEH==26:CFDFFA@@@=H@HEHHAHHHHHHHHA4DDAHHHHHHHHHHGCHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:23:14390:98082 147 chr1 10001748 60 101M = 10001338 -510 ATTTGGACTGGAGAAAATTCTGTATCCAGGGCCCTTGAGTGGCTGCTGGGGCCCGCTCCCACCTGGTGAAATGTACTTTCATTTTCAATAACTCTCTGCTT BE@DC@CAC?@D??DA>BCAB@CABB@ACB@;BA@CBAACBBCDBCDACC?DB9CB@CAB>=AB7@BBCCDCACBCDECBCDEECCBABBABCBB@AABD@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:@@BBA???@=A@@=@<A:?@B@A@BBBABBBBBBBBABA@BAABAB?@BB>=7>@?A?@C?@A44555GEFGF####################################################################### UQ:i:4 +20GAVAAXX100126:8:28:18116:51320 99 chr1 10001794 60 101M = 10002126 432 TGGGGCCCGCTCCCACCTGGTGAAATGTACTTTCATTTTCAATAACTCTCTGCTTTTGTTGTTTCATTTTTTTCTTGGTTGTGTGTTTTCTTAAACTCTTT CBCACCCC;BDBBBBABDBCCBDDDCBBCADDDBCCDDDBCDCCDACBCBCBBDDDDBC@ACADBCCDDDDD@@BA>CBDBCCCBCDDDBDA<A?B@@AA@BA?>>@@?@@A@?AA?@?@@?AAB UQ:i:0 +20GAVAAXX100126:8:25:15890:153544 1187 chr1 10001807 60 101M = 10002149 442 CACCTGGTGAAATGTACTTTCATTTTCAATAACTCTCTGCTTTTGTTGTTTCATTTTTTTCTTGGTTGTGTGTTTTCTGATACTCTTTTTTTTTTTTTTTT @@ABB@A6BCBC;>@?ADCCABCCCC=CDCACAD@C@C5CC@BCCACABCACDCDCCADCACC@BC>7AAAB(A?(5(5ABB@DC>B>5A@CACAACA MD:Z:78T1A20 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:2 SM:i:37 MQ:i:60 OQ:Z:B>CABA?4BAAA>A8?BBBAAABBCC;ABBAABBCBBB@A?5BBBABCBBBBBBCBBBBABBABBABB?;3>'5)5ABB:@AB>=3=>>??;?<> UQ:i:14 +20GAVAAXX100126:8:24:3855:143240 163 chr1 10001827 60 85M16S = 10002054 327 CATTTTCAATAACTCTCTGCTTTTGTTGTTTCATTTTTTTCTTGGTTGTGTGTTTTCTTAAACTCTTTTTTTTTTTTTTTTTTTTTTCTTTGATTTTTCCT @CB@AAD>BBE@CCBECCCCACCBCBBBA@>BC@C=BBADDABCCBDACB/5;D>:BD3=BBA??@AD@################# MD:Z:85 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCCBB?B?BABABC=BBBBBBB+7:B;;?A3<@BB;>?BB?################# UQ:i:0 +20GAVAAXX100126:8:21:3663:199637 147 chr1 10001860 60 41S60M = 10001543 -376 TGTGCTTTCATTTTTAATAACTCTCTGCTTTTGTTGTTTTTTTTTTTTCTTGGTTTTGTGTTTTTTTAAACTCTTTTTTTTTTTTTTTTTTTTTGATGGAG ##########################################BCDCD8(;8/;>>)0.2-9A>?(>:3=89+)CDDDDDDDDDDDDDBCDCCCBABABBD@ MD:Z:14G8C36 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:2 SM:i:37 MQ:i:60 OQ:Z:##########################################@@B@B8'::->:9(/-1/;A@@*@>3<16+(ABBBBBBBBBBBBBBBBBBBBCBBBBBB UQ:i:15 +20GAVAAXX100126:8:2:15613:129653 147 chr1 10001879 29 64S34M3S = 10001516 -396 GGAATGTCGTTTCATTTTCAATAACTCTCTTCTTTTTTTTTTTCATTTTTTTCTTGGTTTTGTTTTTTCTTAAACTCTTTTTTTTTTTTTTTTTTTTTTGA #################################################################>C;'79AA94)*ADEEEEEEDEBCDDCCCBABCBC@ MD:Z:34 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:0 SM:i:29 MQ:i:29 OQ:Z:#################################################################@B8&39>>40*)?BCCCCCCBCCBCCBBBCCBBCCB UQ:i:0 +20GAVAAXX100126:8:6:3004:12551 595 chr1 10001879 29 68S10M1D23M = 10001521 -391 TATGAGATTGTTTCTTTTTTTTTTCATTCCGCGAGTTTTTTTTTTTTTCTTTTTTTTCTTTGTTGGTTTTTTTTTATATATTTTTTTTTTTTTTTTTTTTT ##################################################################################;;;<;;;;=;;;;=?428? MD:Z:4C3A1^C1C21 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:4 SM:i:29 MQ:i:29 OQ:Z:##################################################################################@@@@@@@@>@@@@EA@2@A UQ:i:6 +20GAVAAXX100126:8:26:17894:31587 83 chr1 10001891 60 2S99M = 10001582 -407 CTCTTTTTTTTTTTTTTTTTTTTTGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGT ###@>BA;A@AAA@AB=ADDDDDCBCCBBDADCDCBCDCCADBBCCBDBBCCBBCACBBCACBB;ACBCCCD;BBCDBBCCBBDBCCDCCBCCDCCCBBAC MD:Z:99 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:###GBGG?GEEGGEGG>GHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:63:4634:186518 147 chr1 10001924 29 46S55M = 10001553 -425 TGTTTTTTACATTTTTTTTTTTTTTTTTTTTTTTTGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTCGGCTCACTGCAACCTCT ###############################################@C:5==8->548?7027@84B,-B2**(%6A;>))B4B:A4-B9<==A@7>A@? MD:Z:55 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:0 MQ:i:23 OQ:Z:###############################################A?95;<3'>:08?;029B88A)+@2(**)6?8<))@7@9@5-@88;=?A7>@<> UQ:i:0 +20GAVAAXX100126:8:65:13649:138985 147 chr1 10002037 60 26S75M = 10001701 -410 GCCCGCCGAAGAGCTGGGACCACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGTGTTTCACTATGTTAGCCAGGATGGTC ###########################ADB3?8>9DC@;=BC;B>CC9DBBDCDBAACCB879C4BCBDAACC?B>DCCB?AADDBEADBCBCBAA@BAC@ MD:Z:75 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:###########################@B>;>8>9BBBB=BAB>>CBCCABBBB?BBBCA:9>B>784B6A14:35D4:*C4A:6:B@<;79AC667=<$87B:3>3C896+8A9<@9)6)A7*,+).>B*/5>9:A>777:??> MD:Z:39A23A21 PG:Z:BWA RG:Z:20GAV.8 AM:i:25 NM:i:2 SM:i:37 MQ:i:60 OQ:Z:#################@1>>942A4?//353B2=*@5?;95B9;519BB;168:(;5C;7@8B>=5*8@79=7)2*@0)+*)0;A*+9;7AC=2527?== UQ:i:12 +20GAVAAXX100126:8:24:3855:143240 83 chr1 10002054 60 101M = 10001827 -327 GGCTAATTTTTTGTATTTTTAGTAGAGACAGTGTTTCACTATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAA AD@=CA@;DBCBDBBCC=A>9:??>6=;==?B@CCD;?CBC=CCABB5>=CD;BBC=D=<4:<< MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:FHBHHEEEEHHHEEDHHHHHHHGHGHHGHHHHHGHF@BCCBHHCBHHHHHHHHHEHCBBCDD;A@DEEHFHHHHGHHH>HHGGGEEEHHHHHHEHDEEEGG UQ:i:0 +20GAVAAXX100126:8:48:18256:122283 163 chr1 10002059 60 101M = 10002396 437 ATTTTTTGTATTTTTAGTAGAGACAGTGTTTCACTATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCT @CA@??@ABBCBB@BCCBCCCCCACCBCBCCBCACBAA?BBCBCACDCCCA@CBCDDDBDACC?CA@DC;@CA<@BAAB?8ACBB:DA@D>ABAC@@<@@AA@>@A@@B@A?A@>BB??=;1:B> UQ:i:0 +20GAVAAXX100126:8:61:16672:156327 163 chr1 10002072 60 101M = 10002410 438 TTAGTAGAGACAGTGTTTCACTATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG @CBBA@BCBCACB>BACCBCBDCCBACCCCCBCCABAB>ACBCCABDBCD?BA@DC;CCB?BC?AB49ACAB:AAAB?CB>9BA=CC>?C1BBA@<=C>C: MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBB@CBBBBBBBABABBBBCBBBBBBBBBBABBABBB@BBBBABBBABBAABAABB@B@@AA@@@8@@B@A@AA@A?AB=7=@6AA;@A4@@?<;7@=?@ UQ:i:0 +20GAVAAXX100126:8:28:18116:51320 147 chr1 10002126 60 101M = 10001794 -432 TCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCTTGTTAAATTCTTTGTTCAAAATGCCAAAAACCT 85=C@;CA75=9/=ABADA@ABB@B?@CA>A@C@:A@BC@CABC;;C@CABAA?=BCCADCCCCDCCEECADCCCB@CCBCBBBAAACC@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:45==<8??14=84<>6@B@>@=B@@AAAABAA>ABCB@BABBBA@BABBBBBBBBBBCCBBBBCBCCCBBBBBBBBABCB UQ:i:0 +20GAVAAXX100126:8:65:9835:166164 163 chr1 10002137 60 101M = 10002441 404 CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCTTGTTAAATTCTTTGTTCAAAATGCCAAAAACCTGGACACCCTCC @C:AABA:CBCDBACCDDB?BBDBCCCBCCABBC?8>A=B;CAA=7@C=C;?A?CCBB@@BBAABA?BDA>CB@B?=?CAAACACDB@@C@4(9C?7D>@B MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBBBBBBBBBBBBBBABAA?>>A?B=?>AAB???;AA?@A?A@A????A@=<>AAB?@?@@=B@?A5'9?A3?::? UQ:i:0 +20GAVAAXX100126:8:26:12389:180500 99 chr1 10002138 60 101M = 10002456 418 CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCTTGTTAAATTCTTTGTTCAAAATGCCAAAAACCTGGACACCCTCCA C;B@DB;CBBDBBBCDDCB@BDBCCDCDCACCCA;B@DCBBCAB;BCABCBCBBBDDBC@CDDCDBDD@BCDBCDDDCBBBBDDDBA+ACCDADABABCDE MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHIHHHHHHHHHHHHHIHHGHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHGHHHHHHHHHHHHGHHHFH0DHHHHHHGGDHHH UQ:i:0 +20GAVAAXX100126:8:23:10396:142336 163 chr1 10002141 60 101M = 10002456 415 CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCTTGTTAAATTCTTTGTTCAAAATGCCAAACACCTGGACGCCATCCACTG @DB:BA@CBCCCCBA;'7<49/A;.A5;<)#8?):>=C?E9 MD:Z:81A8A2C7 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:3 SM:i:37 MQ:i:60 OQ:Z:BBBAAB=BABBBBB@7@AAABABBBBBBBABBA@@>B9?@.@A@ABA=:6;AA=BA??BA>;:;ABB=B@=??1>:*6737/<;-;0;<*&6;'4=8??@4 UQ:i:24 +20GAVAAXX100126:8:25:15872:153534 83 chr1 10002149 60 101M = 10001807 -442 CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCTTGTTAAATTCTTTGTTCAAAATGCCAAAAACCTGGACACCCTCCACTGGTACTGAA DE?DDDADCCCCCBCDCACDB>;ACBBBCBBC;BBBCCCBBCCCDCADCDDCDDCDDCADDBDDDCCBCBDDDDBCCCBBCBBCCCDCBBCCBACCCABDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHGHHHHHHHHHHHHHHEHHHCHHHHGHHHIHHHHIHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:25:15890:153544 1107 chr1 10002149 60 101M = 10001807 -442 CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCCCCTGGCCCTTGTTAAATTCTTTGTTCAAAATGCCAAAAACCTGGACACCCTCCACTGGTACTGAA ?7=BADCADCAD@AA@ADCADD=DDD?CBC=D@DDACAAA@A=7CCCBCBBCCBACCCABDC MD:Z:35A65 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:BBFFDF2CFBF4,555;FFFFFF5F@5444/0464'AA@A9DGGHHHHHGHFFFFFHHHHHEHHHEHHHEHGHHGHGFGGFD8HHHFHHHHHHHHHHHHHH UQ:i:4 +20GAVAAXX100126:8:47:1669:10922 99 chr1 10002166 60 101M = 10002512 444 ACAGGCGTGAGCCACCGCACCTGGCCCTTGTTAAATTCTTTGTTCAAAATGCCAAAAACCTGGACACCCTCCACTGGTACTGAAGCTCACTGAACCTCCTT CACACC;C:DCBBCAB5BCABDBCBBBD@BBD=DD;@=??DB:D?CD?D?@BBCDDDD9BA?CA@@B@CB=>7=<9CDCCAE MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHBHHHHHHHEHHHHHHHHHHHGHGHEHHBFEDDHHCHFHHEHEFHHHHHHHBHEEHEEFAAFDHFHDFHHEHHFFFFFCFCFD?;@@@HHHHDH UQ:i:0 +20GAVAAXX100126:8:21:8551:122892 163 chr1 10002192 60 101M = 10002500 408 CTTGTTAAATTCTTTGTTCAAAATGCCAAAAACCTGGCCACCCTCCACTGGTACTGAAGCTCACTGAACCTCCTTGTTCAGGAGTTTTCATAGAGCTCCAT @DAA;?ABCC=AD@BB?BCDEEEDBCDCDDCC>CCA4)7B@CCD@DCBDCAAC?BCCB?ABACBA8D=8)@@=B=?<7>?DC@DC MD:Z:37A63 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:BCCCCCAAAC=ACCCBCCCCCCCCBCCBBBAA?BBB;,;BBBBBBCBCBCB@BB<7@BBCBBBBB>@7>:>BAA>A@BBA@9@;2);>B>=>748B?A>BA UQ:i:8 +20GAVAAXX100126:8:25:5802:132383 99 chr1 10002223 60 101M = 10002536 413 ACCTGGACACCCTCCACTGGTACTGAAGCTCACTGAACCTCCTTGTTCAGGAGTTTTCATAGAGCTCCATCTCCAGCCCCCTTCCCTCCCAGGAGGTTGGG CABBCCDACABBDBBCADBCCCADBDDABDBCACBDDABCBBCDBBDBCCCDABDDDBCCCCDCBDBBCCBDBBCCBCBCBDDB=CDBCABCCBC=6??>A MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHEHHHHGEHHEH?7ADEG UQ:i:0 +20GAVAAXX100126:8:21:10727:109276 99 chr1 10002227 60 101M = 10002534 407 GGACACCCTCCACTGGTACTGAAGCTCACTGAACCTCCTTGTTCAGGAGTTTTCATAGAGCTCCATCTCCAGCCCCCTTCCCTCCCAGGAGGTTGGGGTGG CCC?CACCDBBCADBCBCADBDDCBDBCADBDDABCBBDDBBDBCACDCADDDBCCCCCCBDBCCCBDBBCCBBBBBDDBBCDBCBBACDCCCDCDDD@DA MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHGHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHGGGHHHHHHHHHHGHG UQ:i:0 +20GAVAAXX100126:8:28:14388:67948 163 chr1 10002344 60 101M = 10002661 417 TAATCAAAGTCCTCTAATTTGGTCTTTCTGGTGAGCAGCCCCAACCCTGAGTCACATCATTAGCATAGACTCTGGTGTGTTCTAAAGGGGCTCCTTATGAA @CCBABCCBBBCDADCDCCCBCBADCCBDCCBAC=AAB>39@:B:46?@@@@A<@@A;< UQ:i:0 +20GAVAAXX100126:8:48:18256:122283 83 chr1 10002396 60 101M = 10002059 -437 CACATCATTAGCATAGACTCTGGTGTGTTCTAAAGGGGCTCCTTATGAATAGCAAAAGACAATCCTATCACTCAGGAAATTCCAAGGAATTTAGGAGCCCT DDCCDCCDCDCCCCDBCCDCCCACACADDCCDDDBBCBCDCCDCCCBDCCCBBDDDCBBBDCDCCCCDBBCDBDBBDDCDDCBDDBBDCDDCDCBDCACCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:61:16672:156327 83 chr1 10002410 60 101M = 10002072 -438 AGACTCTGGTGTGTTCTAAAGGGGCTCCTTATGAATAGCAAAAGACAATCCTATCACTCAGGAAATTCCAAGGAATTTAGGAGCCCTGTGCCAGAACCAGG EDCDDCDCACACADDCCDDDBCABCDCCDCCCBDCCDBBDDDDBCBDCDCBCCDBACDBCBBDDCDDCBDDBBDCDDCCBBDBCCCCACBCBDBDCC@CBC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHIHHHHHHHIHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:65:9835:166164 83 chr1 10002441 60 101M = 10002137 -404 TGAATAGCAAAAGACAATCCTATCACTCAGGAAATTCCAAGGAATTTAGGAGCCCTGTGCCAGAACCAGGGAAAAAGACCAAATATATATTTCATTAAACT EDDCBDCCDDDDBCCD?DCCCCDBBCDBDBBDDCDDCBDDBBDCDDCDBBCBCCCCACBCBCBDBCBCBB@@DDDDBBCBDDCCCCCCCDDDBCDCDBBCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHGHHHHHHHHHHHEHHHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:23:10396:142336 83 chr1 10002456 60 101M = 10002141 -415 AATCCTATCACTCAGGAAATTCCAAGGAATTTAGGAGCCCTGTGCCAGAACCAGGGAAAAAGACCAAATATATATTTCATTAAACTTTACTACATGATACA EDDA?DC>CCCBCDCADDCBAABDDBBDBADCDB>D?>CC@ACBCBDB>BCBCBBA@DDDD?BC@DDCACCCCCDDDBADCDDBCDDCCCCCBCCBC:@BB6C@<<>?A?BCC49C?BC?B?CCC6D@D>7BC>C@BBABBBAAAB@B=<@A9B?:C>??8BB@4=@>BB>B@BBB1ABA=D>>@?;=773/65608?DC?9:78CBAB>6=C=ACDAB@3BBC@B7)/3B>CA?AAA)?DA@CA56'>A>=>;;<251-236.9?B@@5576BA@B>6;B:>BBBA@5?B@?@9'/4BCBBBBC>(>B?>B@9>?5BCB9DAAACBB@=BBBCCECBCCDCDDCDCDDBCBBBDCACBBABCBB@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:C>CBB@BABBACB-CC@CBBABBA@CBBBBBAACC9BBBCBBC@>BCCCBCCBCCBA@CCCBCBCBCCCCCCCBCCBCCCCBCCCCCBCCCCBBCCBBBCB UQ:i:0 +20GAVAAXX100126:8:25:5802:132383 147 chr1 10002536 60 101M = 10002223 -413 TAAACTTTACTACATGATACAAACTACAGTTTGGAAAGACATTTAGGAATGGTAGAACAAAACAAGTGAGAAAATATAATATGTAAAAGGTCTTTTTGTCA BDBD@@D@AA>DB>AB8BBB:ABB;ADBCCB@CCACDCBBBDDDDCDDDDBDBBBBCAABDCBA@@AC@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:CB@@CBBBBB=BBCBCCBBCBBBCBABCCBBBBBBBACBCCBBCCCBCCCCCCBCCBCCBBBABCCCCCCCCCCCCCCCCCCCCCCCCCB@BCCCCCCCCB UQ:i:0 +20GAVAAXX100126:8:46:6526:26315 99 chr1 10002542 60 101M = 10002857 415 TTACTACATGATACAAACTACAGTTTGGAAAGACATTTAGGAATGGTAGAACAAAACAAGTGAGAAAATATAATATGTAAAAGGTCTTTTTGTCATTTCAA CDC?DCACCBDCCACDDADCACCBDDBCDDDCDACCDDCCCDDCBCBCCDDACDDB@CAABBDCDDDDCCCCDCCCBCCDDDCCABDDDDAAA@DCDDCEE MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHIHHHHHHHHGGHGGIHHHHHHHHHHHHHHHHHHHHHHHGHHHHHGGEGHHHHHHH UQ:i:0 +20GAVAAXX100126:8:61:8680:44720 163 chr1 10002550 60 101M = 10002899 449 TGATACAAACTACAGTTTGGAAAGACATTTAGGAATGGTAGAACAAAACAAGTGAGAAAATATAATATGTAAAAGGTCTTTTTGTCATTTCAAAATACAAG @AA@7;B?D@=@;9A@BAACCEECB:CCBCCCC9=B7/8?A09?ADDAAA=B:C= MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:@?@@4=A?CA@?@BBCCB@9BBCBBBA7?B=59CA/:@BBB=B=?A4?>?9;@>5>/;?B@B;AA9:98@@A<<: UQ:i:0 +20GAVAAXX100126:8:28:14388:67948 83 chr1 10002661 60 101M = 10002344 -417 GCATGGTGGCTCACACCTGTAATCCTAGCATTTTGGGAGGCTGAGGCAGGAGGATCCCTTGAGCCCAGGAGTTGGAGACCAGCCTGAACAACATACTGAGA DDCDCADCCCDCCCBCCCACDCDCCCDABCDDDCBBBDBBCCBCBBBDBBCBBCDCCCDCBCBCCBCBBCADCBBDBACBDBCCCBDBBDCBCCCCC@CBC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHFHHHHHHHHHHHHGHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHFHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:5:7404:40226 163 chr1 10002668 37 91M10S = 52476437 42473869 GGCTCACACCTGTAATCCTAGCATTTTGGGAGGCTGAGGCAGGAGGATCCCTTGAGCCCAGGAGTTGGAGACCAGCCTGAACAACATACTGAGACCCCGTC @CBB?A?BACAA@<>ACDED@>@CCCCCBAC@?BB;6<8?AC=B76A38AAD=6A8/A:@7CC=:D7@BA7'B38ABBCB>7B@:BC72D########### MD:Z:91 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:37 OQ:Z:BCBACA@ACC@@A@:@CCCC?=>BBCCB@@B>>BC>:?=ACB>?99=08=BB97;2.=7=8AA=2A9?=?6(>16BBAAA=8=>:>@73@########### UQ:i:0 +20GAVAAXX100126:8:43:16629:51559 163 chr1 10002681 60 100M1S = 10002869 288 AATCCTAGCATTTTGGGAGGCTGAGGCAGGAGGATCCCTTGAGCCCAGGAGTTGGAGACCAGCCTGAACAACATACTGAGACCCCGTCTCTACAAAAAATA @DCA@BBBBCCBBBCCCCCCBDBCCCBCCCBBA=:7;B@B;?;>=C;ACB::@8B?==?C>==@AA8A<=?>@;>BA?;@9:B<8>5:9AAA## MD:Z:100 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBCBBBBBCCCBCBBBBBBBBABBBBBB@A@:=:@BAB>?<B?>6<:?::6@B?<?:?:9?:;<<@61-9=?=?=?669?:7=145;8?## UQ:i:0 +20GAVAAXX100126:8:45:10866:114173 99 chr1 10002696 60 101M = 10003041 434 GGAGGCTGAGGCAGGAGGATCCCTTGAGCCCAGGAGTTGGAGACCAGCCTGAACAACATACTGAGACCCCGTCTCTACAAAAAATAGAAAATTAGTTGGGG CCCACCDCDCCBCCCDCCDCBBBDDBDCBBBCCCDCADBCDCDABCCBBCBDDACDACCCADBDCDABBB;BBDBDCACDDDAABBADDDDCDCCBDC>E# MD:Z:100T0 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGGGGHHHHHHHHGHHCH# UQ:i:2 +20GAVAAXX100126:8:65:6494:152486 99 chr1 10002718 60 101M = 10003049 431 CTTGAGCCCAGGAGTTGGAGACCAGCCTGAACAACATACTGAGACCCCGTCTCTACAAAAAATAGAAAATTAGTTGGGTGTGGTGGTCCATGCCTGTAGTC CDC@DCCCBCCCDCBDBCDCDABCCBBDBDDACDACCCACBDCDABBB;BBDBDCACDDD@@BBADDD@CDCCBDBCCABCBCCBCCBCCCCCCDCCADDD MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHEEGGGHHHDHHHHHHHHHFHHHHHHHHHHHHHHHHHHGHHH UQ:i:0 +20GAVAAXX100126:8:65:4031:65332 163 chr1 10002722 60 101M = 10003065 443 AGCCCAGGAGTTGGAGACCAGCCTGAACAACATACTGAGACCCCGTCTCTACAAAAAATAGAAAATTAGTTGGGTGTGGTGGTCCATGCCTGTAGTCCCAG @C@BABBCCB@CBBCCD@8CC>BCBA5A?@D>AACABC@B=BAAB@CBCC=?B MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBAABBABAB?BBBAB8BA=@BBBABBBCBCBCBBCBB>;BB7AB@B0B>@B;B@@ABABBCCBDACCCCC@CC@CCCCAC>AAAA??A?8AC@?@?98C;@@?A?8B@64AA=@@>76>7?<:@;?@8?@####### UQ:i:0 +20GAVAAXX100126:8:27:6582:134282 163 chr1 10002742 60 94M7S = 10003068 426 GCCTGAACAACATACTGAGACCCCGTCTCTACAAAAAATAGAAAATTAGTTGGGTGTGGTGGTCCATGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGGG @BCCABB@CCACCAADBCCCBCCC;ABDCECACDCCBBBB@@CCB?CCCCABD@CCBCCBA;8>B=AAC@=A???>=B?A64B######## MD:Z:94 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBCCBBCBBBBBCBBBBBBACBBBCBBBCCBBBBBBBBBBC@BAB?BBB>BBBA?B@AA?BA??=@@8A@A?B;>6>A=@AB=@B>>>AA<==:BB@=BC>@>>BB:@C@BBA@AAAC??CBCC@CBCBC@CCCACCCA@BA;BBBBA@BB@ MD:Z:79G21 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:>?:1=<=7<3=><>==:?@;BABBABAABA=BBBABBBBABABBBABBBBBB UQ:i:31 +20GAVAAXX100126:8:43:16629:51559 83 chr1 10002869 60 101M = 10002681 -288 AGGCTGCAGTGAGCCAAGATTGTGCCAGTGCACTCCAGACTGGACAACAGAGCAAGACCCTGTCTCAGGGGGCTGGCCACGCATGGTGACACATCCCTGTA :DCDDCCDACCDCCCDDBCDCACBCBDACBB@CDCBDBCCCBBCBDBBDBCBBDCBBCCCCADCDBCBBBBBCCBBCBB;BBCCBACBCBCBCDCCCA@CC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:;HHHHHHHHHHHHHHHHHHHGHHHHHHHHHHEHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:63:6936:45669 611 chr1 10002875 29 35M66S = 10003208 424 CAGTGAGCCAAGATTGTGCCAGTGCACTCCAGACTGGACAACAGAGCAAGACCCTGTCTCAGGGGGCTGGCCAAGCATGGTCACACATCCCTGTAGTCTGT ##################################################################################################### MD:Z:35 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:0 MQ:i:37 OQ:Z:##################################################################################################### UQ:i:0 +20GAVAAXX100126:8:61:8680:44720 83 chr1 10002899 60 101M = 10002550 -449 CACTCCAGACTGGACAACAGAGCAAGACCCTGTCTCAGGGGGCTGGCCACGCATGGTGACACATGCCTGTAGTCTGAGGAGCTCAAGGTTGCAACAGTGAG 646:>:CD9A=>@B=DDBA=CCCA?C>B<:98;B:CBABBBBBB?CBCCC?ACADACBDBBDBACBADBADCBBDCCDAABDC MD:Z:64C36 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:47;<@A?@@A>EECHHCF?DDHAHHHGEHHHEEHHHBFB9DGCGEG?BBFBHBHHHGHHHHHCHHHHHGGGHHGHHHHHHHGGHGHHHHHHHHHHHHHHHH UQ:i:33 +20GAVAAXX100126:8:28:18332:173597 163 chr1 10002902 60 97M4S = 10003158 356 TCCAGACTGGACAACAGAGCAAGACCCTGTCTCAGGGGGCTGGCCACGCATGGTGACACATGCCTGTAGTCTGAGGAGCTCAAGGTTGCAACAGTGAGCCA @BCBAB@CBCCACBACCCCBCDBBACDDCBBDBC@B?@BABA?B=C>:AC:?B6BC=B:A?@=@BA;=?>A@BA875:BACA##### MD:Z:61C35 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:BBCBBBBBBBBBBBBBBBBBBBA@BBCBBBBBBAABAABBAA@A?B=?AA>??3??=>:?@?=@??;=:7>?=:5=17:494>=?6>?:13:?@=?##### UQ:i:31 +20GAVAAXX100126:8:62:6496:91010 99 chr1 10002902 60 101M = 10003193 391 TCCAGACTGGACAACAGAGCAAGACCCTGTCTCAGGGGGCTGGCCACGCATGGTGACACATCCCTGTAGTCTGAGGAGCTCAAGGTTGCAACAGTGAGCCA CBBACDADBCDACDACCDCBCDCDABBDBBBCBCCCCCC@DBCBBCA;BCCBCBBDACACCBBCDBBCCCBCBDCCDCBDBCDCC>DCCCB@BABCDD@D> MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHFHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHAHHHHFGGFFHHHDHB UQ:i:0 +20GAVAAXX100126:8:45:20504:142467 163 chr1 10003007 60 90M11S = 10003337 430 CGCACCATTCCACTTCATCCTGGGCAACAGAGCAAAACCCTATCTCTATGAAAAAAAAAAAAAAGCAAGAGGCTATCTTCTCTGAGGTTTACTATAGTTAA @;BB>AACABCCACCBDCCDDBDCCCDBCCCCBCCCB@A?C?CCBCDCACACD@DDDDDDBDCB=A@B;/<6688.5B?4:>8:?@B>C5BA1>A<;################################################################ MD:Z:38 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:=7@BABA@;@;@28CB;:6A;:39>@@<@5A@/;A>?################################################################ UQ:i:0 +20GAVAAXX100126:8:45:10866:114173 147 chr1 10003041 60 11S90M = 10002696 -434 GCAACAGAGCAAAACCCTATCTCTATGAAAAAAAAAAAAAAGCAAGAGGCTATCTTCTCTGAGGTTTACTATAGTTAACTTTTACAAGTATTTAATCATAA ############?8.D=4.,9388?<3CCACCB@BCCBC@BB=B@BCBACBBBAA@BCBABDACCDDCCCCCDCCDDCBCDADCCCCBBBBB:C@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:2;901225?A>@AAAAA@A@@AB@AABBBABA@BB>ABABABBABB?B@BBBBBAABB@BBBBBABBBBBBBBBBBBCCBCCBBBBBBBCBBBBBBBBBBB UQ:i:0 +20GAVAAXX100126:8:45:5977:75469 163 chr1 10003052 60 71M30S = 10003336 384 CTATGAAAAAAAAAAAAAAGCAAGAGGCTATCTTCTCTGAGGTTTACTATAGTTAACTTTTACAAGTATTTAATCATAATTGCTTAGATTGAATTCGGTTC @DBBABCCCCCDCBDDDA=.7@@4)@@397:6?:241'-%366C6/0?-:37A6>=3@BC303<=45';B############################### MD:Z:71 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBBBBBBBBBBBBB?9,6==1*?>13683=9224'-%4:5A90.:-55688;729@A402;902'7@############################### UQ:i:0 +20GAVAAXX100126:8:63:2945:69121 83 chr1 10003053 60 5S96M = 10002736 -412 TTCTCTATGAAAAAAAAAAAAAAGCAAGAGGCTATCTTCTCTGAGGTTTACTATAGTTAACTTTTACAAGTATTTAATCATAATTGCTTAGATTGAATTCG ######@A;AA@A?AA@DDDDDDBBDDBDBBCCCDCDDCDCCBDBADDCBCCCCCADCDBCDDDCBBDCACCDDCDCDBCCDCDCBCDCDBCDCBDCBC;C MD:Z:96 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:######DD@GGGGEGGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:65:4031:65332 83 chr1 10003065 60 101M = 10002722 -443 AAAAAAGCAAGAGGCTATCTTCTCTGAGGTTTACTATAGTTAACTTTTACAAGTATTTAATCATAATTGCTTAGATTGAATTCGGTTCAGTATATATTCCT EEDDAD=?=A>DCBCCCDCDDCDCCAD@A?DCCCCCC6ADCACADDDCBB?CACCDDCDCDBCCDCDCBCDADBCDCBDCDD;BADDBBACCCCCCDBCCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHGHAD@DAHHHHHHHHHHHHHHGHFHEHHHHHHH7HHHFHGHHHHHHEHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHIHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:27:6582:134282 83 chr1 10003068 60 101M = 10002742 -426 AAAGCAAGAGGCTATCTTCTCTGAGGTTTACTATAGTTAACTTTTACAAGTATTTAATCATAATTGCTTAGATTGAATTCGGTTCAGTATATATTCCTGGA EDDCCDDCACCCCCDCDCCDCCBDBAD@CBCCCCDADCDCCDDDCBBDDACCDDCDCDBCCDCDCBCDCCBCDCBDCDD;BADDBDACCCCCCDDCCABBC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HIHHHHHHEHHHHHHHHIHHHHHHHHHDHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:26:6455:142223 163 chr1 10003070 60 101M = 10003403 433 AGCAAGAGGCTATCTTCTCTGAGGTTTACTATAGTTAACTTTTACAAGTATTTAATCATAATTGCTTAGATTGAATTCGGTTCAGTATATATTCCTGGAAG @CBBBABBCBDCCADCCDCDBBCCBCCCADCCBC>BAB;CBBBC?CDC@B?CC@DCBDBABCCABD@CCB@CCABBB@;B@BCBBAB>>C;BC?CBBCBDB MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCBBBBBBBBBBBBBBCBCBA@BB@BCBBBBBAC@BBB@BBAABBBBB?AABBBAABBA@ABBAABABB@@@A@@B@@BA>@BAA9@A?@@@>@ UQ:i:0 +20GAVAAXX100126:8:68:8704:167789 99 chr1 10003123 60 101M = 10003414 361 AATCATAATTGCTTAGATTGAATTCGGTTCAGTATATATTCCTGGAAGTTCACTATTATTATTATTACTAGGTCCTGAGAATATGAAACAACCATAAAAAT CDB@CCCDCABBDDCCDCDBDDCDB;CBDBCCAC>CC>CDBBC9CDDC@DBCADCCDCCDCCDCCDCADCACCBBDBBCDDCCCBDADACDACDCDE=E@; MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHGHEHHEHHHHH@HHHHEHHHHHHHHHHHHHHHHHHHHHGHHHHHHGHHHHHHHHGHHHHHHHHHHBHG> UQ:i:0 +20GAVAAXX100126:8:28:18332:173597 83 chr1 10003158 60 101M = 10002902 -356 ATATTCCTGGAAGTTCACTATTATTATTATTACTAGGTCCTGAGAATATGAAACAACCATAAAAATGAGTGATGAATTCAATATATATTATTCTGACACTG BDCEBDCBCCDD?DDBCACCDCCDCCDCCDCCCCDBADCCCBDBDCCCCBDDBBDBC@BCDDDDCCBCACBCCBDCDDBDCCCCCCCDCCDDCCBCC:BCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:FHHHEHHGHHHHGHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHH UQ:i:0 +20GAVAAXX100126:8:25:10200:154913 147 chr1 10003177 60 101M = 10002841 -436 ATTATTATTATTACTAGGTCCTGAGAATATGAAACAACCATAAAAATGAGTGATGAATTCAATATATATTATTCTGACACTGAGAAGTATTGTAACAAAAA =>455>8=@B@B@5>=8AD>?DBABB@CCDCCC?D@>BBCBCAC>AABAB>BBCDCCCCCCBBBBCCBDBCDAACDCABBBAABAC@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:9<<6>????A>@:<97340>6<=@@@?6:69?AAABBBABBBBBBABBBB@B@CBBBBBBBBBBBBBBABBBCBB UQ:i:0 +20GAVAAXX100126:8:62:6496:91010 147 chr1 10003193 60 101M = 10002902 -391 GGTCCTGAGAATATGAAACAACCATAAAAATGAGTGATGAATTCAATATATATTATTCTGACACTGAGAAGTATTGTAACAAAAAACAAGTTTCTAGGTCA CA=2CAAB@B>>;;>AA5BB>BBAACBACDABEA@BCBBCBCCCCDCACCADCCDDACCB@A?BAACBCDACCDBBCCABCCCBBACBDACCCBBB@@CB@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:B=81??>?>@>;<9:884:>9'>>351>;77?9< MD:Z:33T24A12 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:2 SM:i:37 MQ:i:60 OQ:Z:###############################FFFAA43.-,64<>D551-1.421=09:>7::)@:55444/+444/43+4>::3B>=+@ACA>=A=ACB?AC@BBB>BB@CCCA=CB MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBCBBA;BBBBBBBBBBBB@@ABA?BB@BBBBBBBBBBABBB@BB@BBBABBABAAAB<@AA@@><>A????ABA?B;@?@@A@??;6:=A UQ:i:0 +20GAVAAXX100126:8:63:6936:45669 659 chr1 10003208 37 9S92M = 10002875 -424 GAGAATATGAAACAACCATAAAAATGAGTGATGAATTCAATATATCTTATTCTGACACTGAGAAGTATTGTAACAAAAAACAAGTTTCTAGGTCATACCAA ##########B@19:97;=>;C?@43?;B@9(0<>5>BD8(28C=3B97C>?C,5B?>?08;3@*>A@;?CBCA@?-C'9:BA;.3<7@B5'.:>7AA+6AA@@6<>1>+>?85=C@B>:=-@)6:AC86-)=A>5@589@ UQ:i:7 +20GAVAAXX100126:8:68:17460:23672 99 chr1 10003272 60 101M = 10003550 378 CAAAAAACAAGTTTCTAGGTCATACCAAAAGCCGGGCAAAGTGGCAGATTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGGGGGAGGATTGCTTGAACCC CCD:@DDA@A@BD>BDCCCCBCCC?BCDDDAB=;C@?B@@=;===?A;BABB@ABC?:=BBCCADCAD@>C>DCC=@?@ACCC>>???>?DACAD<=:>?= MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHGGHHHCCCGHDHHHHHHHHHHGHHHHHGHDHHCCGCGD@DDDDG=GGHHEGHHE=EHHHHGHHHHGCHDHHH?DDDFHHHCCCCCCCHGHDHADDCDCCDCCCB@CBAACCBD@BCDCBCDCBDACC;CBBDBBBDBDBADCBBDACBCBBDBDBCCCB;>CBCCBCBCDCBBBCDCBDBCCCBCCCDABDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BGHHHHHHHHHHGGGGGGHHHHFHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHEHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:45:20504:142467 83 chr1 10003337 60 101M = 10003007 -430 ACTCAGGAGGCTGAGGGGGGAGGATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATAGCGCCATGCCATTGCACTCCAGCCTGGGCAACAAG DDD@DCCDCCCB@CABACC@DCBCDCBCDCBD@CC;CCBDBBBDBDBADCBBCACBCBBCBCBCCCB;BCBCCBCBCDCBB@CDCBDBCCCBBCCDC@CDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHDHHHHHHHGGGGGGHHGHHHHHHHHHHHHEHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHFHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:26:6455:142223 83 chr1 10003403 60 101M = 10003070 -433 GCGCCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATCCTTTCATGAAATTACTACCAGATGTTGGCCCTTCA >6=@>=;A@>AB@BACBDDC>BCBCDC@?AAAAA@ADDDDDCDCCDDDACCBDDCDCBCCBCBDBCCADCBCCCCBCBC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BAADA?BDDBD55444DBFBFHHIHHFDBFDEFFFFHHHHHHEFHHHHHDCGGGGGGGHHHHHHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:68:8704:167789 147 chr1 10003414 60 30S71M = 10003123 -361 GTTGCAGTGAGCAGAGATAGCGCCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAATCCTTTCATGAAATTACT ###############################B@<347:@::>>A@CC=B>7A@@C>9A;<:;7>;28>>>CCCCCCCCCCCCBCCCDBCBCCBBBBBBAC@ MD:Z:71 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:###############################?=;002AB@?=:=?>?@<@<=<>:@@39<<5?;:B71?A8>:07B49;9-6.5?A9B@;A#################### MD:Z:82 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:???AC@:BCCCBCCCC@CACB?CCCCB=ACCC@4808@7>=4@4-==9=;14@3875,2+7>?;A<:A#################### UQ:i:0 +20GAVAAXX100126:8:45:3960:5771 163 chr1 10003525 60 101M = 10003872 447 CATCCTTAGCAAAGAAAGATCTTCAAAGCAGGCACTTCCATGATCCACATACTTTGGATGCCCTTAAAGGGGGGGAAAAAGGGAGAGGAAGGGAGGAGAGG @CBA@BBBBBCDCABEECCCBECBDEECBACCCD@CAAA?CBCC?CCACDAADADCCDCBACCCCB?DCCADDAB>@BB=BBCBB0CB@DABC@AACC?DB MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCBCBBBBCBCBBCCCBBBBCCBCCCBA?BBCCBBBBBCBBBBABBBBBBBBBBBBABCBBBBBA@BBBABBBB;?A?<@?@;@@ UQ:i:0 +20GAVAAXX100126:8:26:5030:62604 99 chr1 10003529 60 101M = 10003851 422 CTTAGCAAAGAAAGATCTTCAAAGCAGGCACTTCCATGATCCACATACTTTGGATGCCCTTAAAGGGGGGGAAAAAGGGAGAGGAAGGGAGGAGAGGAAGA CDCACCCDDCDDAADCBDDBCDDCBCCCBCACDBBCCBDCBBCACCCACDDBCDCBBBBDDBDDCCCCC>B>DDDDCCCDCBCCDDCCCDCCCCCCDDED5 MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHEGCHHHHHHHHHEHHHHHHHIHHGHFHHIHH4 UQ:i:0 +20GAVAAXX100126:8:26:15631:70339 83 chr1 10003538 60 101M = 10003203 -435 GAAAGATCTTCAAAGCAGGCACTTCCATGATCCACATACTTTGGATGCCCTTAAAGGGGGGAAAAAAGGGAGAGGAAGGGAGGAGAGGAAGAGGAGGAGAA DEDDCCDCD?CDDDABDCBBCCDDCBCCBCDCACBCCBCADCBBCCBCC@DCDDCBBBBBBDDDDDCBBBDBDBBDDBBBDBBDBDBBDDBDBBDCBBBDC MD:Z:61G39 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHCHHIHGHHHHHHHHHHHHHHHHHIHHHHGHFHHHHHHHHHFHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:35 +20GAVAAXX100126:8:68:17460:23672 147 chr1 10003550 60 101M = 10003272 -378 AAGCAGGCACTTCCATGATCCACATACTTTGGATGCCCTTAAAGGGGGGGAAAAAGGGAGAGGAAGGGAGGAGAGGAAGAGGAGGAGAAATAGCATTTCAA CE@CBA?1B>)8.>1%94=096A;>->88CAA=:4=.?7A0CAC<>B78=A=CCDC8C7?==?:?@9@BCC;.=<'23<-%616384?;?'=74?B?997<0?3@2A>B99>94>B9BBBB;B6@>@A=AA;;BB@8ABB?@?>>?BB@B;?BBB>>ACB:BA?982;8A>=?DDD==?CBBBADDCDA>=>A@=;;@?A@=;8<13=,<;<78)=7<=2=72A>B@>B;>*<@==@CDACHHHDDDHHHHGHHHHCADAGCD>4CEFCE?44234245554+44441443FAFFCF=C,?254444-5559F?DDCC.?A654'5:GCGE4 UQ:i:0 +20GAVAAXX100126:8:25:18450:91287 163 chr1 10003652 60 101M = 10003979 427 TCTGCTTTAATATATATATATTTTTTGAGACAGAGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTCCGCTCACTGCAACCTCCACCTCCC @CCA?A@ABCCCCACCCCCCDCCCCCBCCC@CACB>@C?B@DBD@BCCCAACB=BDBCBA@=A9AA<=>ABBB>=@BAAB>BA?AB MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCBBCCCCBBBBBBBBBBBBCCCBBBAABBAB@BB?BBABBBBBBABBB@BB??AAAA?@;A?<@>@@9A@?>@>>>@>B?<6?>@@@>:???@>>>9>:@ UQ:i:0 +20GAVAAXX100126:8:44:17629:79062 1187 chr1 10003678 60 99M2S = 10004001 423 GAGACAGAGTCTCACTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTCCGCTCACTGCAACCTCCACCTCCCGGGTTTAAGCGATTCTCCTGCCTCAG =B:6:=::9ABD61?DDDCCCD97@@>374=48?AA@<;@BD8B46CB5>C<?@2=6@5;@B@B;6=BA;A4:@A1;A:CA9;@B>85/:2?7*'5)4>8':4&3=?:8BABA07B@### UQ:i:4 +20GAVAAXX100126:8:2:19645:190338 83 chr1 10003700 60 101M = 10003434 -366 TCCAGGCTGGAGTGCAGTGGTGCAATCTCCGCTCACTGCAACCTCCACCTCCCGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTAC 5ECACCC?;CD?BBCD=A>=:?9==?AA@D=DDBHHGHHHFHHHHHHHHHHHHHHHHEH UQ:i:0 +20GAVAAXX100126:8:25:1734:195910 99 chr1 10003819 60 101M = 10004149 430 TGGCCAGCTAATTTTTGTATTTTTAGTATTTTTGTATTTTTGTTTCGCCATGTTGGTTGGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCACCCACCTC CBC@CCCCDCDCDDDDBBBCDDDAACBCCDDD@@ABCDDDA@AA@=;BBCCBBDBCCDBCCBDBCCBDBBCDADBBDBCBBDBCDCCCDC@CC:CCDBAED MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHGGHHHHGGHHHHHHHGGGGHHHHGGGGGEHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHIHHHFHHBHHHHFHH UQ:i:0 +20GAVAAXX100126:8:26:5030:62604 147 chr1 10003851 60 101M = 10003529 -422 TGTATTTTTGTTTCGCCATGTTGGTTGGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTACCAAAATGCTCGGATTACAAGTGTGG C@B;)?9)8=@BAC@C?CB?=7ABCCBCC@C@@CDA>?=DCB3BBA6BBCBDBCCCBDBCCCCCBCC;DACDCABAB?@@BD@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:@<=AA?AA@@@;2A?ABAABAB?BBBB9?@BBB4BBB6BBABBBBCB@CBBCCBBBCBCCCBCCBCCCCCCCCB UQ:i:0 +20GAVAAXX100126:8:45:3960:5771 83 chr1 10003872 60 101M = 10003525 -447 TGGTTGGGCTGGTCTCCAACTCCTGGCCTCAAGTGATCCACCCACCTCAGCCTACCAAAATGCTCGGATTACAAGTGTGGCCCCTTGTAATAAAAATTTAA EA?A,@CCCCCADCDCBDCCDCCCBBCADBDDACBCDCBACCBBCCDBDBCCCBCBDDDCCBCD;BBCDCBBDDACACBBCCCCDCABABCDDDDCDBCDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HFFD.CHHHHHHHHHHHHHHHHHHHHHFHHHHHHHHHHHFHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGGHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:4:16802:116090 611 chr1 10003895 60 101M = 10004234 439 TGGCCTCAAGTGATCCACCCACCTCAGCCTACCAAAATGCTCGGATTACAAGTGTGGCCCCTTGTAATAAAAATTTAATTTTTTGGAATATGACTCTTGGA 1.)4=???3/>@,=<<30+->;>6<<<:;>:+:6;;;<<:9*31=;;99=97=:<@>:==AA7=<9::9:>765198:9+=;:5:A/<>:::86<9@=:.B MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:5..54544/.44+55473+0B@BBBCB;8@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBCBCCBB@BBBBCCBBAABBBBBBB@BBBBB>AABBBBBBBBBBB@BAB@B=@BAAABB@A@@@@??<;1= UQ:i:0 +20GAVAAXX100126:8:47:13004:90024 147 chr1 10003910 60 60S41M = 10003567 -383 TTGTATTTTTGTTTCGCCATGTTGGTTGGGCTGGCATCCAACTCCTGGCCTCAAGTAATCCACCCACCTCAGCCTACCAAAATGCTCGGATTACAAGTGTG #############################################################>:;6=5@6BB7;;A8(@CCC>;AAC;>?A=AB>A@B@ MD:Z:41 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:#############################################################@>><>9>5A@6:6A1,>BBB=7A?BBAA?;B7=?B@@BAB UQ:i:0 +20GAVAAXX100126:8:2:13260:81311 163 chr1 10003923 60 90M11S = 10004222 399 CTACCAAAATGCTCGGATTACAAGTGTGGCCCCTTGTAATAAAAATTTAATTTTTTGGAATATGACTCTTGGAGTTTTTCTTTTTCTTTTTTTACTTTTGG @C4:97@:CB>??>9=;<@:??2?-4?BACACC:<=6:<:16>@9BAD9@889:?BBB3?96>;?=;BDB:?4877?(?;C?D>78D6@############ MD:Z:90 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:B@4;66=7@A?=@A@=79=9@<.;'1:A?B@BA7>@6>?>47><B?0<;7><<<=BA@;<0755>);;B>B<53@4@############ UQ:i:0 +20GAVAAXX100126:8:1:17413:63912 1187 chr1 10003958 60 101M = 10004229 371 GTAATAAAAATTTAATTTTTTGGAATATGACTCTTGGAGATTTTCTTTTTATTCTTTTACTTTTGGACTCTGTTGGACTTCAGTTGTTTTTCTTTAATGGC @BBCBACCCCCCCADCCCCCCBCCDCCCCCADBDB?*34->CCC6DDCCB&:C/CDCD4;8C6BB@0@EB*CC2>$8?5>4 MD:Z:39T10C2T26G20 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:4 SM:i:37 MQ:i:60 OQ:Z:BABBBBBBBABBBBBBBBBBBBBBBBBBBABBBBBA355-@BBA:BABB?';@.>BBB3;7A4BA>/ABA)BA1=(6>B:(0B1;B?7-869?6??991:2 UQ:i:38 +20GAVAAXX100126:8:7:11540:56171 163 chr1 10003958 60 101M = 10004229 371 GTAATAAAAATTTAATTTTTTGGAATATGACTCTTGGAGTTTTTCTTTTTCTTTTTTTACTTTTGGACTCTGTTGGACTTGAGTTGTTTTTCTTTAATGGC @ABCBACCCCCCCAACCCCCCBCBCCACCBADBDBAAD=ABBA?CA@C? MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:ABBBBBBBBBBBBB?BBBBBCBB?ABABB@BBBBBBB>B?BBBBAAAAAA@BABBAA@AAAA@?AA?ABA?A>?@?B8>>@@<>>< UQ:i:0 +20GAVAAXX100126:8:7:11542:56193 1187 chr1 10003958 60 101M = 10004229 371 GTAATAAAAATTTAATTTTTTGGAATATGACTCTTGGAGTTTTTCTTTTTCTTTTTTTACTTTTGGACTCTGTTGGACTTGAGTTGTTTTTCTTTAATGGC @ABBBACCCCCCCACCCCCCCBCBBCACCBADBDBAA7AEABCCAAA=9DBA>C?ACB@>B@=ABB?CA?D# MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBABBBBAABBBBABBBBBCBB?@BABB@BBABBBB9B>BABBABBAA@?A@BBAAAA?B@?@@@>?B?AA>@A@<;A@A>=?<<@?>><>?# UQ:i:0 +20GAVAAXX100126:8:25:18450:91287 83 chr1 10003979 60 101M = 10003652 -427 GGAATATGACTCTTGGAGTTTTTCTTTTTCTTTTTTTACTTTTGGACTCTGTTGGACTTGAGTTGTTTTTCTTTAATGGCTTTATTGAGGTATATTTTATG >DABA><0*(?BC:BCA;B9(BDCBCCBC@6;96ADC?DD7+>65=8'=D@C################ MD:Z:86 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:B@6=AA:@CB00)?BA6>B<>B/)=BBAABBB>679:?BB@BB6+=9-;8(=B?A################ UQ:i:0 +20GAVAAXX100126:8:44:17629:79062 1107 chr1 10004001 60 101M = 10003678 -423 TCTTTTTCTTTTTTTACTTTTGGACTCTGTTGGACTTGAGTTGTTTTTCTTTAATGGCTTTATTGAGGTATATTTTATGTACCATAAAATGCACCTAAGTG =::6<=<<=BBB@<=>A@@B;@?ABA@:ABA@B:=:9<<=AC>ABAABABAAAABAA@@C@??@B>???=====<><=;?AA@<<>< MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:?><:>DGGB5444445554DCFGGGGFGF UQ:i:0 +20GAVAAXX100126:8:25:9891:26690 99 chr1 10004020 60 101M = 10004321 387 TTGGACTCTGTTGGACTTGAGTTGTTTTTCTTTAATGGCTTTATTGAGGTATATTTTATGTACCATAAAATGCACCTAAGTGTACAATTTGATAATTTCTA CDBADADBDBCDBCDADDBDCBDBBDDA@@C@@ADCBCBCDDCCDBCCCBCCCCDDDCCBCCACCCCDDDCBBCABDCDCABCCACDCDDCDCCDCDDCED MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHGGGGGGGHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHFHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:21:17746:177127 163 chr1 10004141 60 101M = 10004479 438 AACCATTCCTACAATCCAGTTTCAGAACAAGTCAATCACTCCAAAAAGTTCCCTAGAGACCATGTGCTGACAACTATTATTTTATAGGCTTTTCTTTTTCT @DAB@A@BCDCACBDCDDCACCCDCCEACCCBBDC@=B@@@CBDBD?CAC?CDBD:CCCABCBABC8DCC?BB>CBBBB>BAD@BBDB=CAAC>D@CCBCD MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCCCCCCCCCCCCCCCCBBCCCCCCCBBACBBCBCCBBCCBCBBC:BABABCBC4BCBBBBABBBCBBBB>>@BBBA@>BB@@A@BBB=@BB=ABB?A@A UQ:i:0 +20GAVAAXX100126:8:21:17763:177132 1187 chr1 10004141 60 101M = 10004479 438 AACCATTCCTACAATCCAGTTTCAGAACAAGTCAATCACTCCAAAAAGTTCCCTAGAGACCATGTGCTGACAACTATTATTTTATAGGATTTTTTTTTTCT >C>A@AB?@D9:@BA?CC?*;CBBCAC8@B)=6B4@BC;=:<@=7CC@CCC?BB@AB=>;71BD MD:Z:88C4C7 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:2 SM:i:37 MQ:i:60 OQ:Z:=A@@?CB?=C;9A?CB)7A@CB?B4@@)@@>CAACBB:@?BC=872;=?>C?<(A7AA)BA@B<CEABCABCAA@BAACCACCA@CCBDABBCDCBE@D@?DBDCAACBCB@A>??ADDCDDDDDDDEDBCDEECCDBDDCBCCBABACD@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:B??A>A?@>>6<:;AB@@AA@BA?@@@@B?BBA@BBABBBB@BBBABBBCABBCBBBBBBBBBCBCCCBCCBBBCCCCCBCBCCCCBCCCBCBCCCBCBBB UQ:i:0 +20GAVAAXX100126:8:42:7969:44162 1187 chr1 10004170 60 101M = 10004491 421 AGTCAATCACTCCAAAAAGTTCCCTAGAGACCATGTGCTGACAACTATTATTTTATAGGCTTTTCTTTTTCTTTTTCTTTTTTTTCTATTTCTGTTTGAGA @CAA@ABBCADCCAEEEECBBCDDDCDCCCBBC?@>AACAA@CD:DCDCC;CCACDCCCCCC?BBD@CCC@DDABCABCBBBBABCDB>CAADABBDCBB> MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:@CBCCCCBBCCCCCCCCCC@@CCCBBCBCBCAA>A@BBBBACBBCBBBBBCBBBBBBBBBBB=BBAAB@BA?BBBABB@BAA=BBB@ABB@BBA:@@A@<: UQ:i:0 +20GAVAAXX100126:8:42:7986:44148 163 chr1 10004170 60 101M = 10004491 421 AGTCAATCACTCCAAAAAGTTCCCTAGAGACCATGTGCTGACAACTATTATTTTATAGGCTTTTCTTTTTCTTTTTCTTTTTTTTCTATTTCTGTTTGAGA @CAA@ABBCADCCBEEEDCBCCDDECCCCCBCCCB>=AC>AACD?DCDCBACCACDBCCCCCCBBD@CDC@EDABB?BCBBADABCE=>CBAD@CBCC5B; MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCBCCCCCBCCCCBCCCBCACCCCCBBBBBCBBBB@CBBCABBBBBBCBABBBBBBABBBBBBBABBBBBBBBBBB?BB@BBBBBBB=BBA@A??AB?1<6 UQ:i:0 +20GAVAAXX100126:8:28:13507:25203 99 chr1 10004176 60 101M = 10004453 376 TCACTCCAAAAAGTTCCCTAGAGACCATGTGCTGACAACTATTATTTTATAGGCTTTTCTTTTTCTTTTTCTTTTTTTTCTATTTCTGTTTGAGACAGAGT CBC?DBCCDDDDCBDBBBDCCDCDABCCBBBBCBDACDACCCDCCDDABCCCCBDDDDBDAAAA@CA@@@@C@@@AA@@@C MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHGGGGGGGGGGGGGGGGGGGGGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHGHHHHHHHHHHHHHHHHHHHHHHHA UQ:i:0 +20GAVAAXX100126:8:2:13260:81311 83 chr1 10004222 60 101M = 10003923 -399 TTATAGGCTTTTCTTTTTCTTTTTCTTTTTTTTCTATTTCTGTTTGAGACAGAGTCTCTTTCTGTCACCCAGGGTGGAGTGGAGTGGCACAATCTCAGCTC ?<@AC>C>@AA>>@@A;<;?=?@>>A??9DDADCBC?AAACADDCB=;>==B?A-CD=DADC??DBB=C>DBBAC=BDA@BBDACBBBCB@CDCD@D@>DC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBEGFBHCCCCCCCCC@@@A@CCCCCCC5HHGHHGHEGEGHHHHHH????@HDH.HHEHGHHEGHHHEHCHHHHHDHHHEHHHHHHHHHHFHHHHGHHFHH UQ:i:0 +20GAVAAXX100126:8:45:4354:79437 99 chr1 10004223 60 101M = 10004540 414 TATAGGCTTTTCTTTTTCTTTTTCTTTTTTTTCTATTTCTGTTTGAGACAGAGTCTCTTTCTGTCACCCAGGGTGGAGTGGAGTGGCACAATCTCAGCTCA CCBACCCDDDDBDAAAAACAAAAB=ACC?9C??C?=>@ABC6>>BB@C?:@C6A@?C? MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:B@@BCBBCCCBCCBCCCCCABCCCCCCBBBBBBBBBAA@A:A:@@:>;@@@A5>>@@A?89>=-29?>2<=;>< UQ:i:0 +20GAVAAXX100126:8:44:5789:104432 163 chr1 10004228 60 101M = 10004558 430 GCTTTTCTTTTTCTTTTTCTTTTTTTTCTATTTCTGTTTGAGACAGAGTCTCTTTCTGTCACCCAGGGTGGAGTGGAGTGGCACAATCTCAGCTCACTGCA @BCB??ACCBBBBBBBBBBECCCCCCCCECDBBCBA?B>ACCCA@CCB@DC@@B?ABAA@D@CDCAACA>=BB@AD@?C MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBCBCCBCBCCCCCCCCCBCCCCCCCCCCCCCCCCBBBCBBBBBCA>AABCBBBBBBBBBBBBBA:BA>B@AB?@B>A=A@BBAB@@AABA<:@@BA@?:A UQ:i:0 +20GAVAAXX100126:8:1:17413:63912 1107 chr1 10004229 60 101M = 10003958 -371 CTTTTCTTTTTCTTTTTCTTTTTTTTCTATTTCTGTTTGAGACAGAGTCTCTTTCTGTCACCCAGGGTGGAGTGGAGTGGCACAATCTCAGCTCACTGCAA @@@@CAAAAACAAAABBAAABADDDDCCCDDDCCADDCBDBCBDBDADCDCDDDCCADBBCCBCBBACBBDACBBDACBBBCBDCDCDBDBCDCCCC@BDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:GGGGGGGGGGGGGGGGGGGGGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:7:11540:56171 83 chr1 10004229 60 101M = 10003958 -371 CTTTTCTTTTTCTTTTTCTTTTTTTTCTATTTCTGTTTGAGACAGAGTCTCTTTCTGTCACCCAGGGTGGAGTGGAGTGGCACAATCTCAGCTCACTGCAA @@@@CAAAAACAAAABBAAABADDDDCCCDDDCCADDCBDBCBDBDADCDCDDDCCADBBCCBCBBACBBDACBBDACBBBCBDCDCDBDBCDCCCC@BDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:GGGGGGGGGGGGGGGGGGGGGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:7:11542:56193 1107 chr1 10004229 60 101M = 10003958 -371 CTTTTCTTTTTCTTTTTCTTTTTTTTCTATTTCTGTTTGAGACAGAGTCTCTTTCTGTCACCCAGGGTGGAGTGGAGTGGCACAATCTCAGCTCACTGCAA @@@@CAAAAACAAAABBAAABADDADCCCDDDCCADDCBDBCBDBDADCDCDDDCCADBBCCBCBBACBBDACBBDACBBBCBDCDCDBDBCDCCCC@BDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:GGGGGGGGGGGGGGGGGGGGGGHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:4:16802:116090 659 chr1 10004234 60 101M = 10003895 -439 CTTTTTCTTTATCTTTTTTTTCTATTACTGTTTGAGACAGAGTCTCTTTCTGTCACCCAGGGTGGAGTGGAGTGGCTCAATCTCAGCTCACTGCAACCTCT CEAB?%B*A<&A>)D?;@9<9<@;43,@B(=9C>8AA3<85?;*A47?CC>3)@*6,44BA:@?71B@@;>4B=A9; MD:Z:10T15T49A24 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:3 SM:i:37 MQ:i:60 OQ:Z:BB>;8%=)<;'3:7C>;42)@?)=5A>9?==B+A84ACCA=,A<008ABABBC?8?;;@@*?13@AB*3+01A>9=A8+C>?9;-A;@37 UQ:i:24 +20GAVAAXX100126:8:25:13133:61877 147 chr1 10004291 60 101M = 10003984 -407 CAGGGTGGAGTGGAGTGGCACAATCTCAGCTCACTGCACCCTCTGTCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAG BBA>AAC9A:2>?@@=>=A7<><9>9@;?B7=@>=?B>,=ABAC=4@>B?;CB@C=8A?AB<;?0:ACBCBCCCBDBCDCCCCCEACCBCCCBBBBA@BD@ MD:Z:38A62 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:A:?8A??6<:/9@=?7<<<5<=96>6?:<>6:8=?>A>/=A?@@=/>:<@?@B?BBB=BB?B@>CCC>BC=A@@DCCBC?CBD@BBB5BBCDACDCCCCCBCEDABCCAB;BDCACBBBA@:B@ MD:Z:87 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:###############?67<7<97>::????AAB@35??@==>>>>B=B@>A==9?5<=> MD:Z:85 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:#################A??>552449>;9A3455544515<8<><55440455554445555554<=@9=A>CCC89CCC54455AGDGFAFAD@DDDDD UQ:i:0 +20GAVAAXX100126:8:8:8310:17522 147 chr1 10004327 60 17S84M = 10003989 -421 ACAATCTCAGCTCACTGCAACCTCTGTCTCCTGGGTTCAAGGGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCACTTGCCACCACGCGCA ##################B<@AA@>147?874@C8BB>CAAB?@CCA9ABACBCCB=CB?C@@A?C@CDBBCCCB?DBBBCCBBBCDBBCBBCB@9A:BB@ MD:Z:84 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:##################?6?@=A@>:>ABBABAB?BB?BAABABBBBAABBBB>BAAAABBBABBBBBBABBBBBBBBB UQ:i:0 +20GAVAAXX100126:8:21:4413:182078 99 chr1 10004409 60 101M = 10004700 382 CAGCTAATTTTTGCATTTTGAGTAGACAGGGGGTTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTGCTG CCB@DCDCDDDDBBCCDDDBDCBCCDACCCCCCADDBCABCCBBDBCBCDCCBDBCBBDB;DD@DBBDBCABDBCCCA@DCBDCBCCCACDDCD?CDCCED MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:23 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHIHHHHHHIHHHHHIHHHHHHHGGHHHHHHHHHHHHHHHEHHHHHH UQ:i:0 +20GAVAAXX100126:8:1:11745:83846 163 chr1 10004442 37 101M = 10004719 377 TTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTGCTGGAGGTATGTGACAAACTGATGGCAAATGGATTA @BAA@?BBCBACBBCCDCCCDBC@BBB;CDADBCC;7@ACBCBC;BD?BD=BC@?BBCCAABBCAC@B8A?C?;:>A;C>BAC?@BA;?C=;C>=A;?AA; MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:37 MQ:i:29 OQ:Z:BCCCCCCCBCBBBBCBBCBCBBB:B@BBABBBABB>@A6=9=?:??B??B=?;:?@=CB;7?97@:8 UQ:i:0 +20GAVAAXX100126:8:45:9158:12274 633 chr1 10004442 0 62S39M = 10004442 0 CTGGGATTACAGGTGCCCACCACCACACTTGGCTAAGTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACC ###############################################################>>=;+<<=9;<:9=;?;;?=<<=?<6==?@>9@>5>*1 MD:Z:39 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:0 OQ:Z:###############################################################AA?51544555455545545544455544445455515 UQ:i:0 +20GAVAAXX100126:8:45:9158:12274 693 chr1 10004442 0 * = 10004442 0 CAAGAATTTCAGTTGCAGTCAGTACTCGGTTCAGGAACACTCCACCCAGGTTTGTAGCTTAGGAGCAATAGACTTTTTCCTATGCAATGTAGGTGTGTGGT ##################################################################?1AC5516*B*C'BA*A&@-<-0;4;6B.@)41@< PG:Z:BWA RG:Z:20GAV.8 OQ:Z:##################################################################@/@A30-2)@*A*A@*?'?-8,29074A,@*02A8 +20GAVAAXX100126:8:28:13507:25203 147 chr1 10004453 60 1S100M = 10004176 -376 TTGGCAAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTGCTGGAGGTATGTGACAAACTGATGGCAAATGGATTATGCCCCCAAT ##A:AAC?:?@C:CBB1@B>A>@A@A=ABC@CC@@BBBBB@AAC>BC@CC?CBCCC=CBA5>ABA@BBBCCCBCCBCBCBBCCCCCCBCCCCBCBBAABC@ MD:Z:100 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:##@4=?<=6=?A=@==4B=;@==A?B8A@?AABAAA@AA@A@@A8@AA@BAAAABB@AB@7ABBBBBBABBBABBBB@BBBBCBBBCBBBBBBBBBBBBCB UQ:i:0 +20GAVAAXX100126:8:21:17746:177127 83 chr1 10004479 60 101M = 10004141 -438 CCTCAGGTGATCTGCCCACCTTGGCCTGCTGGAGGTATGTGACAAACTGATGGCAAATGGATTATGCCCCCAATGGACAGTGTTCTCAAACCGTGATCTGA DDDCAC?DCCDCCBCCBCCAD;BBCCCBCCABDBACCCACBCBDDBCCBCCBBBDDCCBBCDCCCBCCCABDCCBBBBCACADDCDBDDBC;ACBCDACBC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHDHGHHHHIHHHHHHHGHBHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:21:17763:177132 1107 chr1 10004479 60 101M = 10004141 -438 CCTCAGGTGATCTGCCCACCTTGGCCTGCTGGAGGTATGTGACAAACTGATGGCAAATGGATTATGCCCCCAATGGACAGTGTTCTCAAACCGTGATCTGA BACCDC=D@CD??>?@;45::@A>B?B>>DDA=A:@@B@BADCCBBCDCCC@CCCCBDCCBB@BCCCB>BB=?AABBBABABBA@?BABBB@BBA@A@A@AA@CBA>ABBABA@CA?ABC<>>8@@@AAC@BBBB@AABCA@@?BB@>BBBB=AB>A@:AB?B?AB@C@A@AB9@BABCAC@CA@?BB:@@:==< MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:5GGDG;GCEGGGEGGGGGGGGGGGGGCAC9CGGEGGGGGGGGGGGGGGCDGGECGGGGEGGAGGCGGGGGGGGGGGGGGGGGGGGGGGGGGEGGGGGGGGG UQ:i:0 +20GAVAAXX100126:8:42:7986:44148 83 chr1 10004491 60 101M = 10004170 -421 TGCCCACCTTGGCCTGCTGGAGGTATGTGACAAACTGATGGCAAATGGATTATGCCCCCAATGGACAGTGTTCTCAAACCGTGATCTGAGGACCCGGGGAT 89A4@9@BCB@C@@>B>BBAABB=?B7>CBABB@BCBBCD>:C=CBDCB@;BDB>=BBCCCCDCCACCCCCACBDBCCBCBDBCBCCCBBABC@ MD:Z:98 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:####?>778?6=9>??A???>??@@@@@@=>:@>BAAA@A@BA@B?B@@B@ABBAAAABBB@@BBBBBBBBBBBBBBBBBBBBBBBBBBBBBBBBBBBCBB UQ:i:0 +20GAVAAXX100126:8:2:15114:83430 147 chr1 10004542 60 101M = 10004220 -422 ATGCCCCCAATGGACAGTGTTCTCAAACCGTGATCTGAGGACCCGGGGATCCCGAGACCTTTTAAGGGTATCTGTGAGATCAAAGCTATTTTCATAATAAT >D=@B<=ACAAC?BCD@BABBBDAB@=A;BABDC?CBCC>;CC;CCC?DC@C;CDB>BBCCBABBBBACCCCCACBDCCCCCCDBCCBCDDCBBB?@ABC@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:;?;8AABABBBABBBB>:BABBBAABBAABBBB@@BBBBBBBBBBBBBBBBBBBCBBCBBBBBBBBBCBBCBCCCBCB UQ:i:0 +20GAVAAXX100126:8:4:5529:91628 83 chr1 10004550 60 101M = 10004227 -423 AATGGACAGTGTTCTCAAACCGTGATCTGAGGACCCGGGGATCCCGAGACCTTTTAAGGGTATCTGTGAGATCAAAGCTATTTTCATAATAATCCTGAGAT EDDCCCCDAC@DDCDBDDBC;ACBCDCCBDBBBCC;CCBBCDC>;BDBBCCDDDCDCBBACCDCCACBCBCDBDDDBACCDDDDBCCDCCDCDCCCBBBCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHIHHHHHHHGHHHHHHHHHHHHHIHHHHHHHHHHEHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:44:5789:104432 83 chr1 10004558 60 101M = 10004228 -430 GTGTTCTCAAACCGTGATCTGAGGACCCGGGGATCCCGAGACCTTTTAAGGGTATCTGTGAGATCAAAGCTATTTTCATAATAATCCTGAGATGATATTTG ?EBEDCCCDDCC;ACBCDCCBBBB@CC;BBBBCDCC8BDBBCCDDDCDDBBACCDCCACBDB@DBDDCBCCCDDDDBCCDCCDCDCCCBDBCCBCCCBDCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:GHHHHHFHHHHHHHHHHHHHHGHHEHHHHHHHHHHHFHHHIHHHHHHHHHHHHHHHHHHHHHFHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:25:3804:30880 163 chr1 10004579 60 101M = 10004891 412 AGGACCCGGGGATCCCGAGACCTTTTAAGGGTATCTGTGAGATCAAAGCTATTTTCATAATAATCCTGAGATGATATTTGCTCTTCATTCTCTCTCTCTCA @CCB?AB:CCCCCACC;CCCACDCCCCDCCCACCACA>AB@CCCADDCBDACCADCCDBDBCCBACABDCADBABAB@?AABCCCCDB>:AAD?D?DBBD@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:ABBBBBBBBBBBBBBBBBBBBBBBBBBBBBB;BBBBB@BBCBBBBBBBBBBBBBBCBBCBBBABCABBBB@BCBBAB?;AB@BA@BBB>4??BB?B@@@A< UQ:i:0 +20GAVAAXX100126:8:42:4321:53069 99 chr1 10004580 60 101M = 10004795 315 GGACCCGGGGATCCCGAGACCTTTTAAGGGTATCTGTGAGATCAAAGCTATTTTCATAATAATCCTGAGATGATATTTGCTCTTCATTCTCTCTCTCTCAT CCC?CC;ACCDCBBB;DCDABDDDDCDCCCBCCBCBB@DCDCBCDDCBCCCDDDBCCCDCCDCBCDBACDCBDC=CDDBBDBDDBCCD@DADCDCDCDCED MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHDHHHHHHDHHHHHHHHHHHHHGHGHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:41:10214:75276 163 chr1 10004590 60 101M = 10004899 409 ATCCCGAGACCTTTTAAGGGTATCTGTGAGATCAAAGCTATTTTCATAATAATCCTGAGATGATATTTGCTCTTCATTCTCTCTCTCTCATGAGCATATGG @CBBA8BBCACDB@CCDCDCBCCCDBBCCCCCBCCCAACBCCCC@CDCCDABD@CEBDCCBBCBCD@CCBBCEAABAAAC@BBBADCC?C@AC@BAC@ACD MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBCCBCBBBBBCCCBBBCCB@BBCBBABABBBBBBBBBBBBBBBBBBBBBBABBBBBABBBBBBBBAABAABBBBBAB@B@B@B@ABB@@BA@B@?@<@@B UQ:i:0 +20GAVAAXX100126:8:5:7628:108971 99 chr1 10004623 60 101M = 10004891 362 AAAGCTATTTTCATAATAATCCTGAGATGATATTTGCTCTTCATTCTCTCTCTCTCATGAGCATATGGGAGTTTTCCAGAGACTTCCTGCCAGGCCACATC CDDACDCCDDDBCCCDCCDCBBCBDCDCBDCCCDDBBCBCDBCCDBCBCBCBDBDBCCBDCBCCCCBCCACBDDDBBCCDCDADDBCDCACCCDCCDBDDD MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHEHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:5:7649:108990 1123 chr1 10004623 60 101M = 10004910 362 GAAGCTATTTTCATAATAATCCTGAGATGATATTTGCTCTTCATTCTCTCTCTCTCATGAGCATATGGGAGTTTTCCAGAGACTTCCTGCCAGGCCACATC *DDACBCADBD?ACBCC?ACBABBDCDCBDCCADBBBCBCDBCCDBCBC?CBDBDBCCBDCBCC>CBCBACBDDDABC@DCDADDBCDCA@CADCCD?DDD MD:Z:0A100 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:8HHHHGHIHIHIIHGIHFGHHGIHHHHHHHHHIHIHHHHHHHHHHHHHHFHHHHHHHHHHHHHHCHHHGDHHHHHGHHGHHHHHHHHHHGFHFHHHHGHHH UQ:i:9 +20GAVAAXX100126:8:42:11066:118124 163 chr1 10004633 60 101M = 10004938 405 TCATAATAATCCTGAGATGATATTTGCTCTTCATTCTCTCTCTCTCATGAGCATATGGGAGTTTTCCAGAGACTTCCTGCCAGGCCACATCACAACTGACC @CBB@ABBDCBCDACCCCCCCCDCCBBDBDCBCCBABACACBDCBBCDBDABCABDBDCCBACACB@CCCACABC@BBB@ABBB?CC@@C?B?>D?DCBBA MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCCCCCCCBCCCCBCBBCBBBCCCBBBBBBBBBBBBBBBBBBBBBBBBBBBBBABBBAAB?A@BAABBAB@AAA@BA@?@A?A>A@A@@@@><@??@@@> UQ:i:0 +20GAVAAXX100126:8:66:6823:31942 83 chr1 10004641 37 20S81M = 10004294 -427 TCAAAGCTATTTTTATAATAATCCTGAGATGATATTTGCTCTTCATTCTCTCTCTCTCATGAGCATATGGGAGTTTTCCAGAGACTTCCTGCCAGGCCACA #####################<>6=><99:26:>@=<:=<=;,<<<+5<;9=<=<===BB?B??AAB8AA>@A@=CBAAB9CACBAB@AC@CDABA?C@CB?@AA@CCBCBBCACADC=CADDCDBCADBABCCBA?CBD@ MD:Z:92 PG:Z:BWA RG:Z:20GAV.8 AM:i:23 NM:i:0 SM:i:23 MQ:i:60 OQ:Z:##########?364??8@9-<>;>@AA8;;?=@>@B>A?A6A@?A:@A@ABBBAABAA@BBAABBABBB@BABBB@BB:B@BCBBBBCBBBCCBBBCCBBB UQ:i:0 +20GAVAAXX100126:8:1:11745:83846 83 chr1 10004719 29 101M = 10004442 -377 ACATCACAACTGACCTGACCCAGAAGTACATCTGAGAATTCAGCTGTCTTCTATTAAGCCAGACATTAAAGAGATTTGCAAAAATGTCAAACAAGGCCACT DDCBCCCDCCCBCCCCBCCCBDBDDACBBCDCCBDBDCDDBDBCCADCDDCCCDCDCBCBDBBBCDCDDCBDBCDDCBBDDDDCCADBDDCBDDCCC@BCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:0 MQ:i:37 OQ:Z:HHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:26:5797:83894 99 chr1 10004750 60 101M = 10005102 425 CTGAGAATTCAGCTGTCTTCTATTAAGCCAGACATTAAAGAGATTTGCAAAAATGTCAAACAAGGCCACTCTGCATGTAATAGGCTTATCTTAAAAATGAA CDBBCDDCDBCCBDBBBDDBDCCDCDCBBCCCABCDCDDCDCDCDDBBCADDDCBBBCDDACDCCBBCADBDBBCCBCCBCC>CBADC@BDDCDB?>BAC6 MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHIHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHFHHEHHEHHEHHHHHFBBFFF5 UQ:i:0 +20GAVAAXX100126:8:43:4132:159191 675 chr1 10004784 29 95M6S = 10005128 377 TTAAATAGATTTGCAAAAATGTCAAACAAGGCCACTCTGCATGTAATAGGCTTATCTTAAAAATGAATTAATATGTCTCTTGGTTGCCGTTTCTAATCAAA <*89B,AA=@4@)(@@CCB=6/C>CB5>B6)7C<>7A;@?.7DA>CCB8BBABA####### MD:Z:5G89 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:1 SM:i:29 MQ:i:29 OQ:Z:8):5@,@;B:AA7@7>A=B?27;ABA7A<+A=>:BAC@78==:7B9:@==8?))<>ACC:6-A?B?6=>4(1B==/A9==.4B?CCBBCCBCCCCBCCCBCCCBCBCCCB UQ:i:0 +20GAVAAXX100126:8:27:3628:73265 611 chr1 10004826 60 35M66S = 10005114 346 GTAATAGGCTTATCTTAAAAATGAATTAATATGTCTCTTGGTTGCCGTTTCTAATACAATCCATCTGCCTCAGACTCCCAAAGTCCTAAGATTATAGGTAT 1405==>9;?<+?>@==<<>>=<=############################################################################# MD:Z:35 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:51155455555,44444554??>?############################################################################# UQ:i:0 +20GAVAAXX100126:8:21:16295:166486 163 chr1 10004833 60 101M = 10005120 387 GCTTATCTTAAAAATGAATTAATATGTCTCTTGGTTGCCGTTTCTAATACAATCCATCTGCCTCGGCCTCCCAAAGTCCTGAGATTATAGGTATGAGCCGC @BCBAAACACDDDBCCCDDCCDDCCBBBDBDCBC@BA?A:@BCCBCDDCAACD@CDBBCB@AC@:C=ACA@DCABA?@BA@;B@ACAB@@?@8@>?@?@>@?;?@>?>??>? UQ:i:0 +20GAVAAXX100126:8:63:6148:94882 675 chr1 10004865 37 73M28S = 10005252 421 GGTTGCCGTTTCTAATACAATCCATCTGCCTCGGCCTCCCAAAGTCCTGAGATTATAGGTATGAGCCGCTGCACCCGACCTAGCCTTTTCATATGGAGTCT @?5??AB6>A;A71DC;@CABB9?C;CA60790,%=7/=?>BC=?8;;=665D=77:;483A:24A.0;73B############################# MD:Z:73 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:37 MQ:i:29 OQ:Z:B=4=?BB>7?;@62BB:AB?AB5;B9A@3.2650(?;0@C?AB9A975>175B?32945/5@80/?/5811@############################# UQ:i:0 +20GAVAAXX100126:8:42:16609:191180 163 chr1 10004875 60 101M = 10005207 432 TCTAATACAATCCATCTGCCTCGGCCTCCCAAAGTCCTGAGATTATAGGTATGAGCCGCTGCACCCGGCCTAGCCTTTTCATATGGAGTCTCAGACAGTGA @CCAAAA@BDCCCACCDCCDDC;CCDEBCDDDDC@A>CABBBCCACCCCBACCACBC;BCABB?CB5CBCBBC@ACBBCAAABBACAB:BBA:AD?BD@DD MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCBCCCCCCCCCCCBCBCCCBCBBCCCBBCCBBBABCBBBBABBBBBBB?BBBBBABBBABAAAB@@BABAAAB@AAA@B@B@A@@CCBDBC;BCCBB@CC;BBCCCCBCCDDDDBCCCCBBDADCDBDBBBDACBDDCDDBDADCDCCACCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:#HHHHHHHHHAGHHHHHHFHHHHHHIHHHHHHHDHHHHHHHHHHHHEHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:5:7628:108971 147 chr1 10004891 60 6S95M = 10004623 -362 TCCATCTGCCTCGGCCTCCCAAAGTCCTGAGATTATAGGTATGAGCCGCTGCACCCGGCCTAGCCTTTTCATATGGAGTCTCAGACAGTGAAATTCAGTCA #######@B>25;8@8/:A;>B<>9;;>C@B;?@?????@;BBABAB@BABBBBBBBBBBBBBCBBBBBBBCBCBBBBBCBBBCCCBCB UQ:i:0 +20GAVAAXX100126:8:41:10214:75276 83 chr1 10004899 60 101M = 10004590 -409 CCTCCCAAAGTCCTGAGATTATAGGTATGAGCCGCTGCACCCGGCCTAGCCTTTTCATATGGAGTCTCAGACAGTGAAATTCAGTCAATATATTTATAATG DDCDDCDDDADCCCBDBADCCCDCACCCBDBC;BCCBBBCC;BBCCCDBCCDDDDBCCCCBBDADCDBCBBBDACBDDCDDBDADBDCCCCCDDCCCBBCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHFHHHHHHHHHHHHHHFHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:5:7649:108990 1171 chr1 10004910 60 25S76M = 10004623 -362 TCCATCTGCCTCGGCCTCCCAAAGTCCTGAGATTATAGGTATGAGCCGCTGCACCCGGCCTAGCCTTTTCATATGGAGTCTCAGACAGTGAAATTCAGTCA ##########################B7:B8;C<88@A740B@C=D:?C?ACDCCCCDCDCDACCCBDCBBD@CCCBCCBAB@CB@ MD:Z:76 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:##########################A56<99@<<6ACBBBBBBCBCCBBBCBBBCABBBBCBCBCBBBCBBB UQ:i:0 +20GAVAAXX100126:8:42:11066:118124 83 chr1 10004938 60 101M = 10004633 -405 CCCGGCCTAGCCTTTTCATATGGAGTCTCAGACAGTGAAATTCAGTCAATATATTTATAATGAATACTTTTTTTTTTGAGATGGAGTCTTGCTCTTGTCAC DE;AADCCDCCCDDDCBCCCCCBDADCDADBCBDAC>ADBBCBCACADCBCACCC?CADBC?D@C;=>AAADDDDDCBCBCCBBDADCDCBCDCDCABBCC MD:Z:70A30 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:IHHGGHHHHHHHHHHGHHHHHHHHHHHHIHHHHHHHCGHIGGHGHGGHHIGIHIIFHGHGHGHFHCEEGGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:32 +20GAVAAXX100126:8:25:19700:154119 147 chr1 10004969 60 101M = 10004642 -427 ACAGTGAAATTCAGTCAATATATTTATAATGAATACTTTTTTTTTTGAGATGGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGC BD?@C@D@CCAC??DCCAC@<@DBABAADD@CDC>AA>BCACCCEDBCCDCDBDCCBDCBB;ACBC@@ABCC@ MD:Z:39A61 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:?B;BBCBBBBCBBCCBCBBBBCBBCCBCCCCABCBC>BBBCCBCBCCBCCCCCCCCCCCCCBCCCCCCB UQ:i:35 +20GAVAAXX100126:8:48:10519:110723 99 chr1 10004994 60 101M = 10005311 417 ATAATGAATACTTTTTTTTTTGAGATGGAGTCTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGC CCCBCCCDCCADDDDDD;>:?>:C@<<7:==;=;=???A@>BBBABBCCCB@BC8CCB?@BC>B:5<:7;9<9;5BCCDDE@ MD:Z:14A86 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:HHHHHHGHHHHHHHHHHBCBCC=HD4555445444EDFFFEHHGHGHHHHHEHH:HHHCDGHCGB=<@;>54445H=HHHEEHEHHHHHHHHHHDHHHHHE UQ:i:35 +20GAVAAXX100126:8:68:18251:192056 147 chr1 10005081 60 27S74M = 10004792 -362 ATGTCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGCTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGAATTACAGGCATGGGCCACCAC ############################B99A@9?9BBA;=@@BB@@CACBDCBACC>@AABBABA@BBC@ MD:Z:74 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:############################?;;?<6???:@??<6?????;A?A?>A?B@@@A;@AA?A?:A@@=?B>>BABABB@@ABAA?AABABB>AB@B UQ:i:0 +20GAVAAXX100126:8:1:6636:49601 99 chr1 10005102 29 101M = 10005477 440 ATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGAATTACAGGCATGGGCCACCACGCCCGGCTAATTTTTGTGTATTTAGTAGAGATGGGGGTTTCACTATGT CCC@DBCDBCBDBCCBBDBBDBDCBCCBDBCDDCDCACCCBCCBCCBBCABCA;BBB;CBDCDCDDDDB@ABCCDDCCCCCDCDCBCCCC?DDCDADD@DD MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:0 SM:i:29 MQ:i:29 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHEGHHHHHHHHHHHHHHHHHHHAHHHHHHHDHH UQ:i:0 +20GAVAAXX100126:8:26:5797:83894 147 chr1 10005102 60 27S74M = 10004750 -425 GCAACATCCGCCTCCCAGGCTCAAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGAATTACAGGCATGGGCCACCACGCCCGGCTAATTTTTGTGTAT ############################B865235A?;>>C;9A:>@)?C7<=@>C899CC28)5B??:CB@CA<8/B>8B;@8@>B:CC?CCCB?@@BC@ MD:Z:74 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:############################?161316B;;<=B99=6<;*;A<9<>:B;6:BB58)8BA>9BA>B@942B9>B;><>>A?BB?BBCBB?BBBB UQ:i:0 +20GAVAAXX100126:8:27:3628:73265 659 chr1 10005114 60 42S59M = 10004826 -346 CATCCAAGCACCCACTCCAAGGCTCAAGCAATTCTCCTGTCTCAGGCTCCTGAGTAGCTGCAATTACAGGCATGGGCCACCACGCCCGGCTAATTTTTGTG ###########################################C@3=3<=>C<&><@C@*'8B9;:'>@8?:BCBBC<,0CA;C9&0/1>9C.CB?@?9A? MD:Z:3C14G40 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:2 SM:i:37 MQ:i:60 OQ:Z:###########################################?>172:>@B:(;;BA@,';B;@9';>6>9?BABB9)3CBCC9)204;;B,BC??><=> UQ:i:24 +20GAVAAXX100126:8:21:16295:166486 83 chr1 10005120 60 101M = 10004833 -387 CCTGAGTAGCTGGAATTACAGGCATGGGCCACCACGCCCGGCTAATTTTTGTGTATTTAGTAGAGATGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGA DDDCDACDCCCCBDCDCCCDBBBCCBBBCBCCBC;BCC;BBCCDBBDDDCACACCDDCCACCBCBCCBBBBADDDBBCCCCADCBBCBDBBCCCADCB:BC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:43:4132:159191 595 chr1 10005128 29 66S34M1S = 10004784 -377 GTCTGGGCTCACTGCAACCTCCGCCTCCCAGGATCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCGGGAATTAAAGGCATGGGCCCCCACGCCCGGCG ###################################################################################################4. MD:Z:2T7C11A11 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:3 SM:i:29 MQ:i:29 OQ:Z:###################################################################################################A7 UQ:i:6 +20GAVAAXX100126:8:48:2299:12648 99 chr1 10005135 60 101M = 10005519 438 TTACAGGCATGGGCCACCACGCCCGGCTAATTTTTGTGTATTTAGTAGAGATGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATG 9DC?CCCCCCBCABBCABCA;BBB;CBDCDCDDDDBA@?CCD@CCBCC@:DC@CCCC9@DBCADCCBC@:==;;=BABA;:>?:69A9A=?=AC:A=?BAD MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:IHHHHHHHHHHHIHHGHHHHHHHHHHHHHHHHHHHHGGEHHHFHHHHHDBHHFHHHHBFHHHHHHHHHD@BABBAGGFFB;DA@D:D@DAA?GGBF>DDGH UQ:i:0 +20GAVAAXX100126:8:42:16609:191180 83 chr1 10005207 60 101M = 10004875 -432 CAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACTGTGCCTGGCCTATAATGAATA DBC?CDCADCD;BDBCACCB@9CCDB?B=7=>-A9;:<<;7:===:7=<<<:<:7<<,99=>>?>=>?5>;1 MD:Z:61 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:0 SM:i:29 MQ:i:29 OQ:Z:#########################################A=A9A:AA/F=@===444444444544454555/5444/55=9:=CF5AA4454444555 UQ:i:0 +20GAVAAXX100126:8:48:10519:110723 147 chr1 10005311 60 101M = 10004994 -417 TTTAATATTCTCTTTGTTTCTGTCCACAGCAAGAATCTTTATTTCCTGAGACCTTTTGTAGCAGATTATTTTCCCTCAGTTTCTTGCCCTTAAGAGTCTTC DE?BC@ABCA?A=CDAC?A@B@CB:9BACC@CCB>BABCCBDDDCBD:CB:DBDBDABBABACA>A?CDDDCCCDCBDAAECCCDCC8BDCBCBC??BCB@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BAB<@B=AA@>==@BA@=;?BA@A:3B@BA@AB@@?@BBBBBBBB@CC@B-A2A(;A3;9B*ACB8A8;B+A&;>B>81:=/852?97481CB=2=4+*)A)CBC/++@)%>.?''8C3C@######################### MD:Z:16A25T22T11 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:3 SM:i:37 MQ:i:29 OQ:Z:*((?<-?/?(:@4=6@*>C@4@37@*>(8;@;7/9@1<72@;81<1@?>/?1*)(<)@B@/*+@))@.:'(1@2A?######################### UQ:i:35 +20GAVAAXX100126:8:43:10736:78356 611 chr1 10005394 60 35M66S = 10005705 411 TTGCCCTTAAGAGTCTTCGGTTCTCCACAGATAAGAGATTTGCTTTTGATATTTCCTCGACCTGCTCATAAGGATTTCATTATAACTTCTGGGTGCAATCT ?################################################################################################ MD:Z:35 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:AA7>A################################################################################################ UQ:i:0 +20GAVAAXX100126:8:61:2951:38254 163 chr1 10005434 60 96M5S = 10005758 424 TGCTTTTGATATTTCCTCGACCTGCTCATAAGGATTTCATTATAACTTCTGGGTGCAATCTTTAGGAGAGTTTGCAAAACAGTCTTTTTTTTTTTTGTAAT @BBC??@ACCBCB@CDEC;CBDDCCDCCDCDCCCBBAABBBACCBBDCBD@CD>CCCDCB=CC;CD@ACC@DD?ABBBC@@ACACCDCADBCD@D###### MD:Z:96 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBCCCCCCBBBCCCCCCCCBCCBCCBCBCBBCBBBBBBBBBCBBBCBBBBBBB?BBBBBBCBB=BBB@AB@BB@BBA@@B?B?AB@AAAAAAABA###### UQ:i:0 +20GAVAAXX100126:8:21:9990:22806 163 chr1 10005457 60 72M29S = 10005782 425 GCTCATAAGGATTTCATTATAACTTCTGGGTGCAATCTTTAGGAGAGTTTGCAAAACAGTCTTTTTTTTTTTGTAATGGAGTTTCGCTCCGTCACCCAGGC @CCAABBCBCCCB@CCDBCCCDADCBECCCBCBCAB@C>BBCCDACCBCC@BC@CC?DCBADCBCC@CDCA############################## MD:Z:72 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCBCBBBBBCBBCCCBCCBBBBBBCBCBBBABBBABBBCBBBBBBBB?BABBBA@ACBBBBBBBBBBBBBB############################## UQ:i:0 +20GAVAAXX100126:8:6:21370:119926 99 chr1 10005465 60 97M4S = 10005757 389 GGATTTCATTATAACTTCTGGGTGCAATCTTTAGGAGAGTTTGCAAAACAGTCTTTTTTTTTTTTGTAATGGAGTTTCGCTCAGTCACCCAGGCTGAAGTT >743?@CCBDADD?DBC=?BBCDC?DDDCCCCA>=?DDB>>????>;;2>:=4A>@?D56>B2:>98@/DBD?##### UQ:i:25 +20GAVAAXX100126:8:1:6636:49601 147 chr1 10005477 29 35S66M = 10005102 -440 ATGATTCCTCGGGCTGCGCATAAGGATCTCCTTTGAACTTCTGGGTGGAATCTTTAAGAGAGTCCTCAAAACAGTCTTTTTTTTTTTTGTAATGGAGTTTC ###############################BC*89BA>=(29CACC?:+8'%BC54@21,-6%5'85=CB?<7%0>EEEEEEEEEEAACBCCBAA?CCB@ MD:Z:12C8G6T0T0G35 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:5 SM:i:29 MQ:i:29 OQ:Z:###############################?@);6@A<;(.8BB@AA5+:'%?B54>/1+08,:(:4=BDCBCCCBDDA;BABC6BBCABBCACB=@BBA;A?;?CCCCBCCDCCDD@D@. MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHGHHHHHHHHHHHHHHHHIHHHHHHHHHHHHHHHHHGGGGGGGGEAGHGHHGHGHHIHHEHHEGHHHHHHGHH=GFFFCFDBDHHHHIHHHHHHHGHG2 UQ:i:0 +20GAVAAXX100126:8:48:2299:12648 147 chr1 10005519 60 46S55M = 10005135 -438 TTTAAACTTTGGGGTTAAACTTTTAGGAGAGTTTGCAAAAAATTCTTTTTTTTTTTTGTAATGGAGTTTCGCTCCGTCACCCAGGCTGAAGTGCAGTGGTG ###############################################ACCBDCDDDA=3>C9A?<@CDC;ABCC;=BBBBC?EDAABABD=CB?B?A@=C? MD:Z:55 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:###############################################B@BBBBBBBB<5?B;BA@BBBBBAAABB=@A@AB=CCA@ACCC?CC@CAB??B? UQ:i:0 +20GAVAAXX100126:8:48:13575:23805 163 chr1 10005529 60 83M18S = 10005856 427 TGTAATGGAGTTTCGCTCCGTCACCCAGGCTGAAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGGGATTCTTGTGCCCCA @BABBBACCBACC>;BDBC;BABACABACBDCCDB;A<ACA@BCBBA>?B@BC@C?BA@A=?B>@B9>CC?>A@9<####################################################################################### PG:Z:BWA RG:Z:20GAV.8 OQ:Z:*@+ABCBAA=47;?####################################################################################### +20GAVAAXX100126:8:46:11003:55063 99 chr1 10005652 60 101M = 10005971 396 CAGGCGCCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGATCTCAACTCCTTTTTTTTTGAGACA CCBAC;CCB;BBCABCACABDBCBDCDCDBB@@@ACDDD@BCBCADCCCBCBC@ADDCABCCBCDBBBBCCBADBBCBCBCDAD@CDDDDDD?@@?D@DBE MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGGFGHHHHGGHHHGHHGHHHGHFGHHHHHHHHHHHHHHHHGGHHFHHIHHHHHFHHHHHHHEGGCHDHHH UQ:i:0 +20GAVAAXX100126:8:43:10736:78356 659 chr1 10005705 60 101M = 10005394 -411 GTTTACCATGTTGCCCAGGGTGATCTCAACTCCTGTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTATAGTGGCATGATCTCGGCTCACT =@BA::A=C648=BD96>C'@4:(1?5:CD@CCA'3;*@?=C@=>C2<=>8BCD5>?B8@/9@/2@<+@?>CBAB=ACA79B@?@B=69A899BA?@4,?< MD:Z:0T18C14T66 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:3 SM:i:37 MQ:i:60 OQ:Z:=9@>2:>;B512BAB32=>C@5=?-=9=>>BB8>A>9@2=75@BA@>1';9 UQ:i:40 +20GAVAAXX100126:8:43:10431:27195 99 chr1 10005733 60 101M = 10006098 428 ACTCCTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTATAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGA CAC@CDDDDDDAAAADCCACCDCBBDB;AABCB@DBBBBACCBCBCAC@CCCCBBCBCCBC@@DB9CBBBB:@@@ADA@DBCCBCDBCC9??;?=>?<;6B MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHGGGGHHGHHHHHHHHHHGFHHHFHHHHHFHHHHHHFHFHHHHGHHHHHHGEFHHIHHGHFBDGFFHHFHHIHHHHHHHGDDA;6A8BAACAEA7BBA9<>9>8:@@A6@@=8;1BB;CCA@CA:;->C4@A7>ABBB7A?@:9?;:39A>>6:0A??BB>ACA>8(:@0A@7=BBAB6BBC@:=C>BCB?@@BC@CACCBCA>1@@1>@*@AA< UQ:i:12 +20GAVAAXX100126:8:61:2951:38254 83 chr1 10005758 60 101M = 10005434 -424 TCGCTCTGTTGCCCAGGCTGGAGTATAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTGGCCTCCTGAGTA BC>CC;BBA@DBDDB;>CDDCDCDCBBCDCBBCCDCCCBDACDBCCBBBBCCB;BBBBCCCCCABCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:GHGHHHHHHHG=HHHHHHHHHHHHHHIHHHHHHHDHCHHHHHHEHHHHHHEHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:67:2948:89942 147 chr1 10005805 60 20S81M = 10005484 -401 GTGGCATGATCTCGGCTCCCTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCTTGCCTTGGCCTCCTGAGTAGCTGGGACTACGGGCACATGCCATCAT #####################@A=;@>=BB@AA5<@:@CA>=@ABC:CBCBC@@B?BDACBBB@CCB@>CB;CCABBBCCBBABBBC@ MD:Z:81 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:#####################?=<6?==@>A?=4?>?@BB?:?=?B=??B@BAB?B?AAABB?AAAAA=BBBB?BA=BBB<C@CBCD?BBAACA8=BBADE MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:37 MQ:i:29 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHFHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHIHHHIHHHHHFHHHGHHHHHHHHHHHHHHHHHHHHEHH UQ:i:0 +20GAVAAXX100126:8:46:11003:55063 147 chr1 10005971 60 23S78M = 10005652 -396 TGATCTCCTGACCTCGTGATCTGTCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCACCCAGCCAAGTTAGTATGTGTTTAAAGAT ########################@=@=8><>?C96A88@=?<*;;BAB67C;>;4?:2;B<7=A95C;B@,BCBCCCACDBDCEBCBCACADCA??CBC@ MD:Z:78 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:########################?;@>36>9>;<(:6>B@6:A=672A89>B@9@B<1B9?@)@BBACB@BBCBBCCBBBCCCCCCCCCBCB UQ:i:0 +20GAVAAXX100126:8:26:2983:65747 99 chr1 10005981 29 79M22S = 10006359 410 CCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCTCACCCAGCCAAGTTAGTATGTGTTAAAAGATCACACTTGTAATCCTAGAACTTTGGGAGGCTGA 64911=?>?@*:=?>?@A@@:9==8'6==<=::<:@9>>=>>63;;<;<;<:<29@?6?:A;;:;:;??=3>>=;####################### MD:Z:10T50T17 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:2 SM:i:29 MQ:i:29 OQ:Z:=9==84454404455FFFFF55445+444444554C:CAC??;7?55555555.5CC3CCG4@GA44455CCC8AA??####################### UQ:i:35 +20GAVAAXX100126:8:61:18274:143796 163 chr1 10006062 60 92M9S = 10006396 429 CTAGCACTTTGGGAGGCTGATGTAGGAGGATCACTTGAAGCCAGGGGTTTGAGCCCAGCCTGGGCAACATAAAGATTACAGGCGTTAGCCACTAAGCCTGG >A:@?@?A?C?/>9A:AB;??:-7@@A<;B91'8C.>>B;C7=A%?>@@B9(8C<;:?@@A/A8::57::=0,C1%%?>:C@########## MD:Z:53A31G6 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:2 SM:i:37 MQ:i:60 OQ:Z:;>;@CC@@7;>7'5>??8:@79B79@2)?B<>8A4><>;@9==(99>;A8'5B=96@A;@0:4:737;9<.0A5%%<<5@A>@>=<==<@<>7?=>=>=977=;<=:<;:;<<9:=;:::@A=??;<<=<<;99<=7:65>A5:@:617/8>?;><=3?9<>?5>8B MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:23 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:FFDDFCACA>55544=<9<><<=CCCCC444444555445544C98>C>>7A<4@C9AACC;CA8>>@9A8C@@34BBBB@CCC?CD?7A:CA:@;B?BCBBBBABABBB@ MD:Z:64 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:######################################@74@16@AA@A@:;=>4@<@>A:@AA94B@AA@BBA>BB>0@6BA?A9BABBB?BBBBBBBAB UQ:i:0 +20GAVAAXX100126:8:3:10732:109401 163 chr1 10006103 60 101M = 10006447 444 CAGGGGTTTGAGACCAGCCTGGGCAACATAAAGATTACAGGCGTGAGCCACTGAGCCTGGACCCTTCCCTCTCTTAATCTGTTCAGGCTGCTATAACATAA @BBBABBAABCBA@CCCBCABBCACDADCCDDCCBAA;;BCB9@7>CCCC?AC@CCADCAB>BBB@?CBD:E@@@BBAACD;D= MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BABBBBACCBBAABBBBBB>BAB@BBBCBBBBBBBAB@>BBBA;9=ABBBB@BAABCBB@A?AB?=BB?BCB>??BB@@ABBC58CAABAD@C51BCACBBEDA906>;8=AB9@B:CCB@<;@9BC##################### MD:Z:81 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:<0@@@??AA9A;5>B@?B?B?B60@ABBAACB@608C@;@ABA;?BABB>>=A729=8A>ABB>;;?9AA##################### UQ:i:0 +20GAVAAXX100126:8:46:19844:141004 99 chr1 10006137 60 95M6S = 10006468 401 TTACAGGCGTGAGCCACTGAGCCTGGACCCTTCCCTCTCTTAATCTGTTCAGGCTGCTATAACATAATACTGTAGGCTGGCTACAGAGGTTTTAAAATTTG CDC?CCCA;CBDCBBCADBDCBBD@=><=<@;B34;82ABB>DCBEC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:11 NM:i:0 SM:i:11 MQ:i:11 OQ:Z:BBBBBBBBBBBBABABBBBBBBBABBBBBBBBBBBABCBBBBBBABBBBBBBBBBAABAA?A@AB?@A?5<941,8'3<@@1=>>:>32280=@?;@>A@B UQ:i:0 +20GAVAAXX100126:8:45:17313:6715 83 chr1 10006154 60 101M = 10005854 -400 TGAGCCTGGACCCTTCCCTCTCTTAATCTGTTCAGGCTGCTATAACATAATACTGTAGGCTGGCTACAGAGTTTTTAAAATTAGTATTTTTTTTTTTTTTG <>A@??BA@B?CCD>CCCACDCDCDCDCCADA@DBB;CBAB@CDCAC?DCC@CCAC?B@C@@A@?=@;??>DDDDCDDDCDBA<:;?>>??>>>DDDBDCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BACBDACCABAB><;;7?@@A?C<=;;8>+665DC:0?<@:>35;@@B9@@A?=@A;?#################### UQ:i:0 +20GAVAAXX100126:8:22:5084:77687 163 chr1 10006173 60 81M20S = 10006497 424 CTCTTAATCTGTTCAGGCTGCTATAACATAATACTGTAGGCTGGCTACAGAGTTTTTAAAATTAGTATTTTTTTTTTTTTTGAGACGGAGGCTTGCTCTGT @DBC?ACCBDBBCACCCBDB?BCAACACCCDBCA??>=?<@=;C5;@@983<::DDC;AA>A>3813ADBACC<@BBABC##################### MD:Z:81 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBCCCBBBBBBABBBBBBBB>?B@@ABBBBBABB@AA@A?A==B::>@832<4CBCD?AB?;BB6?C:9ACB?@7@=AA?B<>73 MD:Z:15C85 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:1 SM:i:0 MQ:i:37 OQ:Z:BBABBBB>BBBB@CC?C=CBCBBBBBABBABBABAABBABBAA?BBBBAAB>AAAAB>AA>BAAAB@A;BBBB?AB=;@B==A39>A??=9=;>>@>4=26 UQ:i:32 +20GAVAAXX100126:8:43:16553:40365 147 chr1 10006358 29 66S35M = 10005967 -425 GTGGTGTGAGCGCGGTTCACTGCAAGCCCCACCCCCCAGGTTCCCACCATCCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCAC #############################################################################BA:8:8::2B420@B@ABA@BBC@ MD:Z:35 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:0 MQ:i:37 OQ:Z:#############################################################################@@727537.@8<.@A>ABB>BB@B UQ:i:0 +20GAVAAXX100126:8:26:2983:65747 147 chr1 10006359 29 68S33M = 10005981 -410 AGGTGCTTGAGCCCGCCCACATGCACGCTCCACATCCCGGTTGCACACCGTACCCCTCCCTCAGCATTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCA ############################################################################################BB@?;7=@? MD:Z:33 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:0 SM:i:29 MQ:i:29 OQ:Z:############################################################################################BB@@70>=> UQ:i:0 +20GAVAAXX100126:8:62:16536:90438 147 chr1 10006385 60 66S35M = 10006082 -337 CCCTCCTCCCAGCTTCACTCCTTTCTCCTCCCTCAGCCTCCCGAGTAGATGGGACTACAGGCGCCTGCCACCACGCCGGGCTAATTTTTTTATTTTAGTAG #####################################################################B4,B3?$6;63ACC@9@DBDA;9?8C5?1:D@ MD:Z:35 PG:Z:BWA RG:Z:20GAV.8 AM:i:23 NM:i:0 SM:i:23 MQ:i:60 OQ:Z:#####################################################################?5+@5>(:742@BB>6>BBC?=6<5B6;1;CB UQ:i:0 +20GAVAAXX100126:8:61:18274:143796 83 chr1 10006396 60 5S96M = 10006062 -429 ACGCCGGGCTAATTTTTTTATTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCGGCCTCGGCCTCC ######?9AB><<<=@<>@==B@B4;59*:@AB?A8;;;=>?@A>7.=,;2;=88<:4;<6<<=:;95:=:8>A?>>==;/7=/:@<7>BAB>GDG@=@FDFFD5/5.57@A@845554;?2=4555044555 UQ:i:0 +20GAVAAXX100126:8:23:12774:197414 99 chr1 10006420 60 101M = 10006790 437 AGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCC?;CCCCDDBCABCCBBDCCBBCCCDCBCBBCB;CCBCBBCBDABDB;BBDCBDBBB;CBBDB;CBBDBBBCDDCABBDB>CDCDCACCCC;CCDDCDA MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:23 NM:i:0 SM:i:23 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHEHHHHHHHHHHHHHHHHHG UQ:i:0 +20GAVAAXX100126:8:67:19765:57485 83 chr1 10006437 11 1S18M3I77M2S = 10006149 -382 CGTTGGCCAGGATGCTCTCGTGGATCTCTTGACCTCGTAATCCGCCCACCTCCGCCTCCCAAAATGCTGGGGTTACAGGCATGAGCCACTGTGCCCGGCTT HHFEHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:456 +20GAVAAXX100126:8:3:10732:109401 83 chr1 10006447 60 101M = 10006103 -444 ATGGTCTCGATCTCCTGACCTCGTGATCTGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAAAATTAGTATGTT =ECBDC=4@=B;5>>=B@CCB9AC@BDCCBC;BBCCD;BBCCACBBDDDACBCBBBBCACBBDBB;?CBCBCBBCBB;BCC;BBCCCDDDCDCDACCA@DC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:@HHHHHCBFBD?9AA?HDHHEGHHGGHHHHHHHHHHHHHHHHEHGHHHHHHHHGHHHHGHHHHHHHGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:46:19844:141004 147 chr1 10006468 60 30S71M = 10006137 -401 TGAGCCAGGTTGGTCTCGATCTCATGACTGCGTGATCTGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAAAAT ###############################?9<'@A<:=9>8@:>;7C632<83.1;A=;000-8*?;&9A>>BA9>>86>?CA;B@A>@ MD:Z:71 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:###############################@4<&>0032;+==?@0=907A;6(9@6=BB@A@8=;=B@=@?@;@ UQ:i:0 +20GAVAAXX100126:8:48:11905:175240 83 chr1 10006478 60 101M = 10006103 -475 CGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAAAATTAGTATGTTTTTTGTTGTACTTGTTTTTGTTTTTGTTTTT /8,)09:AABA<>B>ADDACBACCB>AD>BBBBB9ACBDB>B@CBA;B@C;BB@BCD@DCDCDAC??<>??DDBADCACB>?@?DCCCBDCC@D>C;ABBCBCBCCBB9BCC;BBCCCDDDCDCDACBB?ABADDCADCAC9@@B?A@@AB@AAAAB?AAAADDDDDCBDBB;BBDADBCBC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:5HEHHHHGHHHGHEHHHGHGHHHHHHHGHHHHHHHHHHHHHHHHHHGGGGGGHHHHHHHHBGGGGGGGGGGGGGGGGGGGGHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:22:5084:77687 83 chr1 10006497 60 101M = 10006173 -424 GGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCCTAAAATTAGTATGTTTTTTGTTGTACTTGTTTTTGTTTTTGTTTTTTTTTTGAGGCGGAGTTTCA *@DBCCCCDCCCDCC;ACBDBCBC@BB;A@@:BACCC?DDCDCDACBB?ABADDCADCACB@@B?A@@AB@AAAAB?AAAADDDDDCBDBB;BBDADBCBC MD:Z:0T100 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:2GHGHHHHHHHHHHHHHHHHHHHHFHHHFFFIHGHHHEHHHHHHHHGGGGGGHHHHHHHHHGGGGGGGGGGGGGGGGGGGGHHHHHHHHHHHHHHHHHHHH UQ:i:9 +20GAVAAXX100126:8:21:11247:101401 147 chr1 10006514 60 12S89M = 10006257 -345 GGATTACAGGCGTGAGCCACCACGCCCGGCCTAAAATTAGTATGTTTTTTGTTGTACTTGTTTTTGTTTTTGTTTTTTTTTTGAGGCGGAGTTTCACTCTT #############@@A6@A@>@;@@A:A@C>B@?@AB=@>A>BAABBA@@AB@ABA=ABBABBA1AABBB?BBB@BBBCBBBBCBBCCCCCCBCCBBCBCBCCB@CBBCB UQ:i:0 +20GAVAAXX100126:8:46:8850:165700 83 chr1 10006624 37 101M = 10006281 -443 TGGCGTGATCTTGGTTCACCACGACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAAGCATGCACCACCATG EDC;ADCCDADBA@ACB@CBC;BACCDCCBCCDCC;CCADDBDDB;?CDDCDCCCBCCDBDBCCDCCCBCACDBCCBBBBCCBBDDBBCCBBCCCCC@BCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:37 MQ:i:29 OQ:Z:HHHHHHHHHGHGGGGFHDHHHHHFHHHHHHHHHHHHHHHHHHHHHHFHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:22:6227:26566 163 chr1 10006730 60 83M18S = 10006988 358 CTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATATTGGTCAGGCTGGTCTCGAACTCCCGACATCACGTGATCCACCTGCCTCAACGTCCATAAGG @DBC@?BBBBCCBBCCCCADCCCCBCBCCBCCBDABAB9BBA?@?@@?A??=;7=?39@?81AA886:?>:>3687':A@?A################### MD:Z:83 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCBCCBBCACBCBBBBB;CBBBACBABB?BBBBBBBB>BBA@;A?<=A:A>2:6;83>?7/?A=5<9<<:;5/55(:=?@?################### UQ:i:0 +20GAVAAXX100126:8:2:2951:16973 99 chr1 10006763 60 101M = 10007005 342 TCCATATTGGTCAGGCTGGTCTCGAACTCCCGACATCACGTGATCCACCTGCCTCAACCTCCAAAAGGGCTGGGATTACAGGTGCGAGCCACCTCGCCTGA <<>7ABBCBCDABDBBADDD>:BBDB@CCCD@AACCC=B4BCBCCACDC;CCDCDBC<6 MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHCHFEHHHHHHHEHHHHHHHHHHHDFHFHHHHHHHEHHHHHHHHHHHFHHHECHHHHFHGHHFHEHHHEHBFHHHHHHHHHHHHHHHH@5 UQ:i:0 +20GAVAAXX100126:8:23:12774:197414 147 chr1 10006790 60 33S68M = 10006420 -437 AGTTTCTCCATATGGGTCAGGCTGGTCTCGAACTCCCGACATCACGTGATCCACCTGCCTCAACCTCCAAAAGTGCTGGGATTACAGGTGCGAGCCACCTC ##################################'@@3DB:?CA@@A9BA=BBCCCDACABACCABDABACC<BBAB UQ:i:0 +20GAVAAXX100126:8:21:7822:20748 163 chr1 10006812 60 83M18S = 10007120 408 TGCCTCAACCTCCAAAAGTGCTGGGATTACAGGTGCGAGCCACCTCGCCTGACCAAGTTAGTATGTGTTTAAAGATCACACTTGTAATCCCAGCACTTTGG @=5AA>>A:AA>=7:C?4@A@A>CC?;A:;A@;=7<+77:>C?C@5.A:B(4@.+**@@><;BA<61ADC8:@;A7;AA<@A################### MD:Z:83 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:@86@??:@9?@;BB;8?7;?><88@59;>?BAAA50@9>(3@/)()6>=>7AA9-0BBA:3<;?5CCCC?ABDBCCCCCCACCB@BC;CCB@B=BCA9ACD@CACACA@C@CCCDBAAACBBD@ACA4CA?@@B@BA@AB@@CCA?@AAA@C*ACA:A MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBBB>ABBB@BBBBBBABBBBBBAB@=A?A@>>@@@?@??=?@-<=A4< UQ:i:0 +20GAVAAXX100126:8:1:4286:192808 99 chr1 10006849 60 101M = 10007174 425 AGCCACCTCGCCTGACCAAGTTAGTATGTGTTTAAAGATCACACTTGTAATCCCAGCACTTTGGGAGGCTGATGTAGGAGGATCGCTTGAGGCCAGGTGTT <<;:A:??BDBBCDC=BAC?BCA?DDB>>?ABABBACBB>><:=CDCB;@ADCDC?@CDA=;?A5 MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:GGEGGEDHHEHHHHHEGCGDGGCGEHHHHHHHHGHBF9FF=CDGGHHGHHHEHGHEHHHDHHHEECGGGGHEHHHAA?=AHHHHHEEHHHHDEHHGBBGG4 UQ:i:0 +20GAVAAXX100126:8:63:5666:148033 163 chr1 10006932 60 101M = 10007256 424 CGCTTGAGGCCAGGTGTTTGAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAAAAAATACAAAAATTAGTTGGGTGTGATGGTTCATGCCTGTA @;BCAABBCBCCBBABABCBCCABCCBCCCBCCBBC?BBBBBCCA?ACCC@>BACD>ACBBBCBBA>BDCACBB@B:BBB;9A>ADCA@C?AC?B?CD@B@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBBBBBBBBBB;BBCBABB>CBBABBAAAABBBBBBBBABAB>AAB?B=?ABA>BA@A@AAA@B@A@@@@A@A7A@A<3>9@AA@A>>?A>@B@>@9? UQ:i:0 +20GAVAAXX100126:8:62:2555:107007 99 chr1 10006969 60 101M = 10007301 421 ATAGGGAGACCCTGTCTCTACAAAAAATACAAAAATTAGTTGGGTGTGATGGTTCATGCCTGTAGTCTCAGCTACTCAGGAAGCTGAGGTGGGAGGATTAC CCCACCDCDABBDBBBDBDCACDDDAABA?CDDD@BDCCBDBCC@B@BDCBCBDBC@BBBDBCCCCBDBCCBDCADBCCCCDCBDBDAC=CC?DCD?BAC1@9?A8@C1CB@4?<@%1:<9@@7?>CCACCC*BB9C?;;0BC@@A?799>#7)6ACBBA66CBDC<(-A?B=AB96<;BBAAAA@@C@ MD:Z:0T22C39A37 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:3 SM:i:37 MQ:i:60 OQ:Z:#?219@>1;9>>8>A.@A;2><<%/;=7@97;9A?BAB=BAABB*=?AB@CAA=BBA UQ:i:8 +20GAVAAXX100126:8:46:18774:97831 163 chr1 10007015 60 79M22S = 10007344 429 TGATGGTTCATGCCTGTAGTCTCAGCTACTCAGGAAGCTGAGGTGGGAGGATTACTTGGGCCCAGGAGGTCGGGGCTGCAGTGAGCCAGTGACCATGCCAG @CCB?B@BBCCBBBDBBCCBBDBCCBCCADBBBC?AAA@A?AC=?CCACC=?C==CB@;A>AB=AA6@B8>;?<>@??####################### MD:Z:79 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCBBCBBBBBBBBCBBABBABBBBBBABBBBAAB@ABBAB@AB6ABA=BA??@@;?@<;@?@A=@?7?@4??==>?=?####################### UQ:i:0 +20GAVAAXX100126:8:24:7834:75053 163 chr1 10007028 60 64M37S = 10007352 424 CTGTAGTCTCAGCTACTCAGGAAGCTGAGGTGGGAGGATTACTTGGGCCCAGGAGGTCGGGGCTGCCGTGAGCCAGTGACCATGCCAGTATACTCCAGCCC @DB@AA@ADACCBCC>CAABCBCBADBBCC@?BB7BB:CB9<80:C@###################################### MD:Z:64 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBBBABABBBBB@AA?AB@AAABB@BB6@BB@BB;A@AAA@:=B??A@A?3=B?###################################### UQ:i:0 +20GAVAAXX100126:8:68:8790:55871 163 chr1 10007049 60 96M5S = 10007343 394 AAGCTGAGGCGGGAGGATTACTTGGGCCCAGGAGGTCGGGGCTGCAGTGAGCCAGTGACCATGCCAGTATACTCCAGTCCTGATTACAGAACAAACCCCTA >=<1?;B>:&0B1'253=B8>=3:5A<3=*?.>=15255%><;=78;CB<6&?@@B<59B<855(C;D?@1;;5/5@;+@>;9;77@B75(;A(-B>C;A>A6BA###### UQ:i:24 +20GAVAAXX100126:8:68:20656:34221 83 chr1 10007102 60 101M = 10006818 -384 AGTGACCATGCCAGTATACTCCAGCCCTGATTACAGAACAAACCCCTATCTCAAACAAACAAACAAGTACATAAATGAAAGAAAGTTTGTGTTCCTACCAC =BDCCDCCCCCAB?@>@ACDCBDBCCCCBCDCC@D@DCBDDACCCCCCDCD@ADBA@DBBDDBBDCACBBCCDDCC@ADD@DDDADDCACAADCCCCABCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:>HHHHHHHHHHFFFFBFFHHHHHHHHHHHHHHHGHFHHHHHFHHHHHHHHHGGHHGGHHHHHHHHHHHHHHHHHHHGGHHGHHHHHHHHHHGHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:21:7822:20748 83 chr1 10007120 60 101M = 10006812 -408 CTCCAGCCCTGATTACAGAACAAACCCCTATCTCAAACAAACAAACAAGTACATAAATGAAAGAAAGTTTGTGTTCCTACCACAGGTGTGTCCAGTGAGAA >)49;7%9;<;0:?9@B9>A?990555;8:945;8?@:;AA><<:=;7;?9=<;<;;49;>;1@>A>?:<>;=>:??5<<=A?=A>9;7==< MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:C+5554.=>=>36@@EB6FDFF?FFFC?B@=ACAB;ADDADBACADDADDB@BBACCBC@CBACBC@B=?@9>3?### UQ:i:0 +20GAVAAXX100126:8:3:4050:181815 163 chr1 10007126 60 101M = 10007427 401 CCCTGATTACAGAACAAACCCCTATCTCAAACAAACAAACAAGTACATAAATGAAAGAAAGTTTGTGTTCCTACCACAGGTGTGTCCAGTGAGAAGAGTGT @CCCABBABACCCBADDDBDCCDCDCDCDDEACDC@ABB@BCBBAACDCD>CCADDCCDBBBCBCC?BDBAEC?BB@@BBB@CABCDB>C77B@A>1C?D? MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBCCBBBCBBBBBCBCBBCCBBBBCCBCCBCBBBBBBBBBBBB@BBBBBB@BBBBBB@B@B@BBBAB@BBBBBBBAB?CB@@AB@BBAB@C4@>;;-?9>5BA<@:@;=CC@61>>CC=9BCCADC?<:428>=;?;?4'8=7=6?@9<<<:@BB<11?>@@=3;A@<=6>A?@B<:3*?>;=?3BAEEAA=<<26:35//C029A0A&4::A9CC@B;>?59=672-B444A-=+-49=/:,))@?9:'(?3?BC@?)9?CBC**?)A@:CB<3@########## UQ:i:21 +20GAVAAXX100126:8:48:10108:181079 163 chr1 10007155 60 101M = 10007444 389 AACAAACAAACAAGTACATAAATGAAAGAAAGTTTGTGTTCCTACCACAGGTGTGTCCAGTGAGAAGAGTGTGATGTTGCAGATGAGAGGGGATAAATGCT @D@BBA@BCDACCAACACDCDDCCCDDCCDDCBC@A>A@BBCDC?CCACC@AB>CBBCCC@BBBCD?AC?@CC@BA?BBA@ABABCBB?C@AB?BBCB@DA MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCBBBCBCBCBCBCBBBBCBBBBCBBBBABBB@BCBABBBBBBBBBBBBBA@A?BABBBB@B@B@AA?B8B>A?AA>@@B?B>@A???@@?@>>@@?>@A> UQ:i:0 +20GAVAAXX100126:8:48:10118:181094 1187 chr1 10007155 60 101M = 10007444 389 AACAAACAAACAAGTACATAAATGAAAGAAAGTTTGTGTTCCTACCACAGGTGTGTCCAGTGAGAAGAGTGTGATGTTGCAGATGAGAGGGGATAAATGCT @D@BBB@BCCACCABCACCCDDCBCDDCCCDCACBA>A@BBCDC=BCABC@CBBCCC?BABB?@@C@@CCABABBCA@ABABBA<@B@A>A@<=C@CB MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCBBBBBBBBBBBB?BBBBBBBBBBBBBAABBBBBBABBBBBBBAABBABA8B@BABBAB?B?B?;B>A;B>B@BB@@BA?A>@A>>8A?@?9@=87??@? UQ:i:0 +20GAVAAXX100126:8:1:4286:192808 147 chr1 10007174 60 101M = 10006849 -425 AAATGAAAGAAAGTTTGTGTTCCTACAACAGGTGTGTCCAGTGAGAAGAGTGTGATGTTGCAGATGAGAGGGGATAAATGCTGGACCAAAGTCCTTGAGAA =DADBADAB+@D8CDC:.;>6A?3:>'?@DA@;;@ACBBD9BBE@DE?A@AAACDC:DCBB@A@>?BCDB5=ADCBCBB@@CCC?CC?BDACA?CBACB<@ MD:Z:26C74 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z::?AAA?BBB+?@;BB?:+8=5@;37>(><@AA6A?B>ABBBB@ACDCC?CC@CCADCBB@CBBC=ABCBCC?@ABBA;ABCB?8CCACAAA>BB@CAD@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBBABBBBBBBCCBCCCBBBCB@B?BABBBB@BAB@ABAB>B@BBBBBBBB@B?BB@B>BB@A?@A@AAB@>BABA;@B?A;3?BAA?@;<>A6@>@= UQ:i:0 +20GAVAAXX100126:8:7:7502:151389 1187 chr1 10007181 60 101M = 10007491 410 AGAAAGTTTGTGTTCCTACCACAGGTGTGTCCAGTGAGAAGAGTGTGATGTTGCAGATGAGAGGGGATAAATGCTGGACCAAAGTCCTTGAGAAGGTGAGA @CACB?8AABABA@CDECBDCACCC@B?CBCCCC;A7=:+;;9??;C@CC?CB=DCCDCC?5ABCA6>BC?@B;8=<9@BBBDB?C@;@B9B>1ABCC?>@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCCB@.@CCAABCCCCBCCBBBCBA@?:@<4<=C@BAB@A:A;6@?7A9.@;6< UQ:i:0 +20GAVAAXX100126:8:24:17458:9144 163 chr1 10007190 60 101M = 10007539 449 GTGTTCCTACCACAGGTGTGTCCAGTGAGAAGAGTGTGATGTTGCAGATGAGAGGGGATAAATGCTGGACCAAAGTCCTTGAGAAGGTGAGAGAGAAAGGA @AB@A@BCBACCABCCBBBBBCDBCABCCCDCB?9A;@@@B@@A@ACC@A>BCACBBCACBBA?AC=@DA;CCBB>A@D92=BA@BA8?C>@A?CBCD@CA MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBCBBBBBCBBBB@B@BACCAB?BABBBB@=7B?AAAB@@@B@BA@@@A@BA@A@@BB@@@?@@?BB<@@AA:A?@9/;@?=@>5@?====@?>@>>> UQ:i:0 +20GAVAAXX100126:8:45:16821:90529 1187 chr1 10007194 60 101M = 10007535 436 TCCTACCACAGGTGTGTCCAGTGAGAAGAGTGTGATGTTGCAGATGAGAGGGGATAAATGCTGGACCAAAGTCCTTGAGAAGGTGAGAGAGAAAGGAGAGA @BCCA?BBACCC?ABC?BDCCBBCCCDC>C9CBC?B>=7ABBB=ABACBC9=A@@CD??>AC@8CA;CBD?C@&=B@BABBA>;:D MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBCBBCBCCBBC@C?CCBCBBABBBBBC9C5B@B@BA>;BBAB9BB=BAB=>>AB>B?>=':B@A=:@@=/683=?:@<(<=A<663B UQ:i:0 +20GAVAAXX100126:8:45:16833:90513 163 chr1 10007194 60 101M = 10007530 436 TCCTACCACAGGTGTGTCCAGTGAGAAGAGTGTGATGTTGCAGATGAGAGGGGATAAATGCTGGACCAAAGTCCTTGAGAAGGTGAGAGAGAAAGGAGAGA @CCC@?BBACCC=AABABDCC@BCCCDCCCBCACBBA@@?BBB@?BCC@BABB@?@=B?AA>CDDAC@+>BABC?>AC8=>@2BBBBBCBB+;BAAB>=A@5;7;/=?B@AAC>A=C>ABC=CABA##### MD:Z:97 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBCBBBCBBB@BBB>BA;AABBBBBBAB8B?BABBAABBAB@AB?A?BBAA?@AA@@A@?@@B?@B?=?9B=A<;@9A@8@>=:A?=@##### UQ:i:0 +20GAVAAXX100126:8:27:21458:11536 629 chr1 10007225 0 * = 10007225 0 NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTNAAANTGTTAANNNNNNNNNNNNNNNNNNNNNAGTN ##################################################################################################### PG:Z:BWA RG:Z:20GAV.8 OQ:Z:##################################################################################################### +20GAVAAXX100126:8:27:21458:11536 697 chr1 10007225 37 16S85M = 10007225 0 GTCCAGTGAGAAGAGTGTGATGTTGCAGATGAGAGGGGATAAATGCTGGACCAAAGTCCTTGAGAAGGTGAGAGAGAAAGGAGAGAAAGGAATCCAGAGTC #################BAA=@D@2@;974/A@B:3'2>7@CBC=>D>::73?BB87=28?A=AAC>7:8@BC@D=CCCCCD?BACBBB>CCCBAAACAC@ MD:Z:85 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:37 OQ:Z:#################A=@>@=1'0=8@AA@<9B@56<.??=;8<19@B?BBB@884>BA>B;BCABCB>?AACCB?;=@C>;B4=>2@A?C=9C>:>?>=?A8-8ACBDAD@CCCA?D@E=BBCBBCCBCABAC@C@ MD:Z:69 PG:Z:BWA RG:Z:20GAV.8 AM:i:0 NM:i:0 SM:i:37 OQ:Z:#################################@7/03=?<;?@=6>59=7=@;??;B?;?A@@AA:-6?AAB@B@BB@?=B@C@CA?==?@C?83A<5@?7669-@BBCC5AABDBABBBBA?AABBCCCB;CADCABDD@C?ACEEAACDBCCA@?CBB@ MD:Z:20G69 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:############??=5686>@A@?<<>??:9/=:8>;524:+:=<=ABBB@@@ABAB@BABBABBBBBABABBBBBBABCAB9789;<8::;985;:8:298648:==<@>;:;;;:6C@@C<:;>=<=:6=?A??@?>5<<9<;;:>?=???>AAB<=?<@<<==<>:@?=<@?=>B5?:< MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:A44445544455555555554:9<>=DDDD>@==@<;GFFG54444?<>8>55554ADDFAGAGFGDDADF??A>>>@C?>DFAADGAGDG UQ:i:0 +20GAVAAXX100126:8:46:18774:97831 83 chr1 10007344 60 101M = 10007015 -429 ATAACAGCACATCCTTACGGTTGTAGGTGGCTTTGTAGATCTAAGAAGATCAGGAAGATTGCTGGCTCTAGTTTTGTAGATTATCAGGAAGATTATCAGAA ?DDCCBCCCCCDCCDCC;CADCACDBACBBCDDCACDBCDCCDDBDDBCDBCBBDCBCDCBCCBBCDCCCADDDCACDBCDCCDBDBBDDBCDCCDCBBDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BHHHHEHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:24:7834:75053 83 chr1 10007352 60 101M = 10007028 -424 ACATCCTTACGGTTGTAGGTGGCTTTGTAGATCTAAGAAGATCAGGAAGATTGCTGGCTCTAGTTTTGTAGATTATCAGGAAGATTATCAGAAAAACATAT C?CDDCDCC;CADCACDCACBBCDDCACDBCDCCDDBDDBCDBDBBDDBCDCBCCBBCDCCCADDDCACCBCDCCDBDBBDDBCDCCDAC@ADDDCCACCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:FGHHHHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGGGHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:3:4038:181802 1107 chr1 10007427 60 101M = 10007126 -401 TCAGGAAGATTATCAGAAAAACATATCTTAACCTGGTGAGCTCTCTATGCTCTGGCACTTGAATAAAAGCTATCCTAAAATATTACAAATTCTAGAATTTA EDDCCDDCCDC@DACA@DDDCBCCCDCDCDCCCCBACBDBBDCDCCCCBCDCCBBBBCDC@@CCDDDCBCCCDCCCDDDCCCDCBBDDCDDCCDBDCBDCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHEHGGGGHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:3:4050:181815 83 chr1 10007427 60 101M = 10007126 -401 TCAGGAAGATTATCAGAAAAACATATCTTAACCTGGTGAGCTCTCTATGCTCTGGCACTTGAATAAAAGCTATCCTAAAATATTACAAATTCTAGAATTTA BDDCCDDCCDBCDACA@DDDCBCCCDCDCDCCCCBACBDBCDCDCCCCBCDCCBBBBCDC@@CCDDDCBCCCDCCCDDDCCCDCBBDDCDDCCDBDCBDCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:GHHHHHHHIHIHHGGGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:48:10108:181079 83 chr1 10007444 60 101M = 10007155 -389 AAAACATATCTTAACCTGGTGAGCTCTCTATGCTCTGGCACTTGAATAAAAGCTATCCTAAAATATTACAAATTCTAGAATTTACCTTCACAAAAACTTTT EEDCCCCCDCDCDCCCCCACBDBCDCBCCCCBCDCCCBBCCDC@ACCDDDCBCCCDCCCDDDCCCDCBBDDCDDCCDBDCDDCBCCDDABBDDDDCCBDDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHIHHHHHIHHHHHHHHHGHHHIHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:48:10118:181094 1107 chr1 10007444 60 101M = 10007155 -389 AAAACATATCTTAACCTGGTGAGCTCTCTATGCTCTGGCACTTGAATAAAAGCTATCCTAAAATATTACAAATTCTAGAATTTACCTTCACAAAAACTTTT EEDC@CCCDCBCABCCBCABBDBCDCDCCCCBC?CCDDDC@CCCDCCCDDDCACDABBDDCDDCCDBDCDDCBCCDD@;BAAAA@@7>=< MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHGHHHHHFHGGHHGHHGHHHHHHHHHHHHHBHHHHHGHGHEEHHHHHHFHHHHHHHHHHHGHHGHHHHHHHHHHHHHHHHHHHHHCCHGGGGFGDGGG UQ:i:0 +20GAVAAXX100126:8:43:20013:129172 83 chr1 10007463 60 101M = 10007196 -367 TGAGCTCTCTATGCTCTGGCACTTGAATAAAAGCTATCCTAAAATATTACAAATTCTAGAATTTACCTTCACAAAAACTTTTTCATTAACTAGGAGGCTTT DDDCCCCDCCCCCCDCCCBBCBDC@ACCDDDDA>CCDCCCDDDBCCD>BBDDCDDCCCBDCDDCBCCDD@@BDDDDACDDDDDBCDCDCCCDBBDC@A>DC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:IHHHHGIHHHHHHHHHHHHHHIHHGGHHHHHHFEHHHHHHHHHGHHHEHHHHHHHHHHHHHHHHHHHHHGEHHHHHIHHHHHHHHHHHHHHHHHHHGHGHH UQ:i:0 +20GAVAAXX100126:8:42:6558:108923 163 chr1 10007468 60 101M = 10007800 432 TCTCTATGCTCTGGCACTTGAATAAAAGCTATCCTAAAATATTACAAATTCTAGAATTTACCTTCACAAAAACTTTTTCATTAACTAGGAGGCTTTTTTTT @BCABABBBDBDBBBCBDCBCDDCEDDCCDCCBCCBBBBBBCCC:CDCCC@DDADCCDCC@CDBBC>BDCBD@BBCBBCBBBCB@ECB=D@ABBDBCDAAC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBCCBBBBBBBBBBBBCBCBCBCBCBBBBBCBBBBBBBBBBBBB@BBABBBBCBBABBBBBBBBABBAAABA@B@A@ABABAB@BBAB>A@@A?@@?@?;B UQ:i:0 +20GAVAAXX100126:8:45:3840:54807 163 chr1 10007468 60 101M = 10007795 427 TCTCTATGCTCTGGCACTTGAATAAAAGCTATCCTAAAATATTACAAATTCTAGAATTTACCTTCACAAAAACTTTTTCATTAACTAGGAGGCTTTTTTTT @CCAA@BABDBBB?DABDBB7B?9A=BAC:@D??@??AB=;ADCBDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCBCCBCBBC?B@>ABBBCCBCBBCCB?ABCB:B@BCBC<=BCCC>@CBB>BBBBCBBB=BCBBBA6B>C@CBBBCBA<>ACBBA95>A?@BB UQ:i:0 +20GAVAAXX100126:8:61:17876:93642 99 chr1 10007468 29 101M = 10007872 438 TCTCTATGCTCTGGCACTTGAATAAAAGCTATCCTAAAATATTACAAATTCTAGAATTTACCTTCACAAAAACTTTTTCATTAACTAGGAGGCTTTTTTTT CBC@DCCCBDBDBCBCADDBDDCCDDAABDCCBBCCDDDCCCDCACDDCDBDCCDDCDDCABDDBCACDDDA?DDDDDBCCDCDADCCCDCCCDDADDD@@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:0 SM:i:29 MQ:i:29 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHGHHHGG UQ:i:0 +20GAVAAXX100126:8:67:10895:75253 147 chr1 10007475 60 101M = 10007283 -292 GCTCTGGCACTTGAATAAAAGCTATCCTAAAATATTACAAATTCTAGAATTTACCTTCACAAAAACTTTTTCATTAACTAGGAGGCTTTTTTTTTTGGATA ;DBCCAB@CAAC?BCBCCDB=ABA>BB?DDACAC@BBACCBCCCCECADBBCADCC@C@BBBBB:BACDCCCCDCCACCDDBDCBBDBCDCDDCB@@ACC@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:9@?@@>@@?@@@A@A@@A@@>@A@=AB@BBBB@BAA?ABBBAABBBBBBABB@BBAAB@BBBBB>BAABAABBBBBBBBBCBBBBABBBBBCCBCCCBBCB UQ:i:0 +20GAVAAXX100126:8:68:20495:7123 99 chr1 10007491 60 101M = 10007858 412 AAAAGCTATCCTAAAATATTACAAATTCTAGAATTTACCTTCACAAAAACTTTTTCATTAACTAGGAGGCTTTTTTTTTTGGATACGGAGTCTTGCTCTGT CDDBCCDCCBBDCDDDCCCDCACDDCDBDACDDCDDCABCDBCACDDDA?CDDDDBCCDCDADCCCDCCBDDDDDDA@@@ACDCCA;CDCCCDDCCDCDDD MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:25 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHHHHHHHHHHHHGGGGGHHHHHHHHHIHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:3:11681:100672 83 chr1 10007491 60 101M = 10007181 -410 AAAAGCTATCCTAAAATATTACAAATTCTAGAATTTACCTTCACAAAAACTTTTTCATTAACTAGGAGGCTTTTTTTTTTGGATACGGAGTCTTGCTCTGT DDDDBADDDDDB>DCD@==6@<=BB6AAAADDDDDCBBCCB;BBDADCDCCCDACAC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:@@DDCDDC>@BDCDDC=BAAB@:BDDDDBC?DDDDBC>ADBCCCBBBBBAAAAADDDDDCBBC@B;BBDADCDCCCDACAC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:AHHHHHHEEHHHHHHHBCBDDGHHHHHHEEHHHHHH?GGFFGBHHHHHHHDHHHHHHEGHHHHHHHIHHGGGGGHHHHHHHHHIHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:3:9830:12196 163 chr1 10007492 60 83M18S = 10007808 416 AAAGCTATCCTAAAATATTACAAATTCTAGAATTTACCTTCACAAAAACTTTTTCATTAACTAGGAGGCTTTTTTTTTTGGATACGGAGTCTTGCTCTGTC @DCBAAABBCDCCBDDCDCCACDDCCBDCCCDDCBB?BCB@CACBBDDADACCACDCDBD;D@BCC=CCCBDCABC@8.67A################### MD:Z:83 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBCCCBCCBBBBCBCCBBBBBBCBBCBBBCBBBBBBBABBBB@BBBBBBBBBBBBABCB@BA@@AB@AB@@@A?8-49?################### UQ:i:0 +20GAVAAXX100126:8:4:4481:73051 163 chr1 10007500 60 101M = 10007790 390 CCTAAAATATTACAAATTCTAGAATTTACCTTCACAAAAACTTTTTCATTAACTAGGAGGCTTTTTTTTTTGGATACGGAGTCTTGCTCTGTCCTCCAGGC @DCAAABBBCBCA>DDCBCEDCCEDCCCBDEBBD?@?B@B@B@CACCCAC;BB;DC@DCCADCB@C>?DCABDAB>;6>98-CC@>@C=D@BB@D@?D=B< MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCCCCCCBCCCCABBBCCCCCCCCCCCCCCCBCCCCBCBBCCCBBCBCCCCCCCC?BBABBBBCB@CBBB=B@B>=><76(AA>90))?(*CD################################################ MD:Z:32T21 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:A7445*?)))@*+4@?)?A*.->:BA8?@2))?(+BA################################################ UQ:i:7 +20GAVAAXX100126:8:45:16833:90513 83 chr1 10007530 60 101M = 10007194 -436 TTCACAAAAACTTTTTCATTAACTAGGAGGCTTTTTTTTTTGGATACGGAGTCTTGCTCTGTCCTCCAGGCTGGAGTGCAGTGGCACCATCTAGGCTAACT AE>;CDDDDBC?DADB@CDCDCC>DB@@=B>?CBCDCCDCCCCBBCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:EHCBHHHHHGHEHGHEGHHHHHHDHHGEEHEBEEEHHHHHHHHHHHHHHHHHHHHHHHHHHEHHHHHHHHHHHHHHGHHHHGGGEDHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:45:16821:90529 1107 chr1 10007535 60 5S96M = 10007194 -436 TTCACAAAAACTTTTTCATTAACTAGGAGGCTTTTTTTTTTGGATACGGAGTCTTGCTCTGTCCTCCAGGCTGGAGTGCAGTGGCACCATCTAGGCTAACT ######<<=965DDDDBADCDC>=?BBB=B4=A?ADAADDCBBCCB;BBDADCDCBCDCCADCCDCBCBBCCBBDACBBDACBBB@CBCDCCDCCCCBBCC MD:Z:96 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:######@@@:89HHHHHFHHHHDAAHHFEH6>GEGHGFHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHEHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:24:17458:9144 83 chr1 10007539 60 101M = 10007190 -449 ACTTTTTCATTAACTAGGAGGCTTTTTTTTTTGGATACGGAGTCTTGCTCTGTCCTCCAGGCTGGAGTGCAGTGGCACCATCTAGGCTAACTGCAACCTCT D@E@EEDCCDCDBCCDCBDCB=A?AADDAADCBBCCC;ABDADADCBCDBCADCCDCBCBBCABBCACBBDACBBB@CBCDCCDBBCCDBCCBCDCCACCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HGHEHHHHHHHHGHHHHHHHHEGEGGHHGGHHHHHHHHIHHHHGHHHHHIHHHHHHHHHHHHFHHHHHHHHHHHHHFHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:63:6242:80411 163 chr1 10007707 60 101M = 10007988 381 CCACACCCAGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATACTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGGTGAGG @CB@A?BBCBBDBBCCCBCCBCDCCCCCCBCCCCA@9@BCB@ACCBC>CC@BCBBC<4A@9;-2B<@7@<-<::7-88AA7<9=75A MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBBCBBBBBBBBBBCBC@BCCCCBBB@BBBBABBA?B?ABAABBAABAABA?AA@A;1;A1=;?@7;<6?@59,3@:?4;<(5586*67=@8;/44/? UQ:i:0 +20GAVAAXX100126:8:7:17495:193398 99 chr1 10007724 60 101M = 10007961 337 TTGTATTTTTAGTGGAGACGGGGTTTCACCATACTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGGTGAGGCATAACTTTTATTTCAG <<=:AAAAA;;A=AB?@C@:=?=9@A@B?AB?A?A@BAABA?A@;73;718;;9=8><<>?@@>?AB:@AA>=5A<=7;:?CB@A?@A?@A>==:>@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:GGGGGGGGGBBGAGGDFGGGDCDCGGGGGGGCGGFFGGGGGCGC=5/582555559D=?CCCCCCGGCGEFC?;G@?D?4BD@DDGGFGGAGEGGBBB>CG UQ:i:0 +20GAVAAXX100126:8:68:12222:58992 99 chr1 10007740 60 101M = 10008056 416 GACGGGGTTTCACCATACTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGGTGAGGCATAACTTTTATTTCAGTCTCACATTTCAGTTT CD@9CCCCDDBCABCCCADBCBBCCCADBC;BCBCDD?DBBCBAABCBCC?BBACBDBBBB;BCBDCCBCCCDADDDD>C?A@CCCBDBCACCDDCADBEE MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHIHHHCHHHHHHGHHHHHFHHHHHHFGHFHHHHHHHHGHHHHHHHHHHHHHHHDHEGGHHHHHHHHIHHHHEHFHH UQ:i:0 +20GAVAAXX100126:8:44:5440:118213 163 chr1 10007743 60 101M = 10008043 400 GGGGTTTCACCATACTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGGTGAGGCATAACTTTTATTTCAGTCTCACATTTCAGTTTGTT @CCBA?BBCACCCABDCCCDCBCCA@A9B;?C;C7;>@3:;8CA@=@B5A:9@;A@CC:@6=:?A=:@:AD@AA MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBACBBBCCBBBCBCBCCBABC>?@4B8>B8A<=<:=<>=BB?>3<7?96:3<@@7> UQ:i:0 +20GAVAAXX100126:8:4:4481:73051 83 chr1 10007790 60 101M = 10007500 -390 GTGATCTGCCCGGTGAGGCATAACTTTTATTTCAGTCTCACATTTCAGTTTGTTCTGTGGTCTCCTCCTTTATTTGTTGCTAGGTAAAAAACATTTTTTTT BECCDCDCCC;CACBDCBCCCDCAAADACDDDBDADCDBCBCDDDBDADACADDCCACBADCDCCDC@ADCCDDCADCBCCDBABAADDDCBBAADDBDDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHGGGHGHHHHHHHHHHHHHHHHHHHHHGHHHHHHHHHHHHHHHHHGGHHHHHHHHHHHHHHHGGGHHHHHGGGHHHHHH UQ:i:0 +20GAVAAXX100126:8:45:3840:54807 83 chr1 10007795 60 101M = 10007468 -427 CTGCCCGGTGAGGCATAACTTTTATTTCAGTCTCACATTTCAGTTTGTTCTGTGGTCTCCTCCTTTATTTGTTGCTAGGTAAAAAACATTTTTTTTTTTTT @A@??:A?BACAA>BB@A<=>AABAAB@B?CAB>A?BAACAC@AAC?@C>C<@A<<<<;<;@@:>=< MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:GGGECGGGGGGGGCGGGGBBBGGGGGGGGGGFFEFEGGGGGGGGGGGCGEGEEGEE69*<5<@@GGADGFEGEGCD?EE4@BGGGGG?BBBBBBBGGGGGG UQ:i:0 +20GAVAAXX100126:8:42:6558:108923 83 chr1 10007800 60 101M = 10007468 -432 CGGTGAGGCATAACTTTTATTTCAGTCTCACATTTCAGTTTGTTCTGTGGTCTCCTCCTTTATTTGTTGCTAGGTAAAAAACATTTTTTTTTTTTTTTTTT 8D>DCD?A?=?;C>@=D>9DD9:<896::67?DADB=28<>/>@7<37@;701+.4=3<@=+;;<1>=;7:@?>1<;AAAA=:????>>??>>>>DDBDDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:GHGHHHDFDBDBHCC@HE=HH55544;=<6;EHGHH?6;@A3AD9>8:C?6022/3A7;:??=BBBAB89:1:::,9:D>D=DBB?@B==:8=:<=88CAC>>AB3AAC8?CB:C?BA:=@DD>@=1>AAAAAAAAAAAADDDDDCCCC@@DC MD:Z:0C100 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:#CBFFB<@CD@BDCBDCABCBACBBA################### MD:Z:83 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCBBBBCBBBBBCCBBBCBCBBBBBBBABB@BBBBBBBBBABBBBBAABBBABB@@@@AA@?@BAB@AAAB@B@A@B@BAB################### UQ:i:0 +20GAVAAXX100126:8:3:8873:24347 163 chr1 10007819 60 83M18S = 10008145 426 TTTCAGTCTCACATTTCAGTTTGTTCTGTGGTCTCCTCCTTTATTTGTTGCTAGGTAAAAAACATTTTTTTTTTTTTTTTTTTTTTGGTTTCCAGGGAATT @BAAAA@BDBCACABBBCCACCBACBDCBCCBBDABBAACBCBCACCBCC@DAADC@DBCBB??BD@CDCACDBBBBBC?BA################### MD:Z:83 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BCCBBBBCBBBBBCCCBBCBCCBBBBBBABBABBBBBBBBBBBBBABABBBB@BB?@A@AA@@?AAAABAB@AA@BAAB>AB################### UQ:i:0 +20GAVAAXX100126:8:3:12227:40820 659 chr1 10007841 60 51S50M = 10007513 -377 GTGAGCTGCGACGTGAGGCATAACTTTTATTTCAGTCTCTCATTTCAGTTTGTTCTGTGGTCTCCTCATTTATTTGTTGCTAGGTAAAAAACCTTTTTTTT ####################################################@9B@-3A='&77,''&9=@6%343A>4A.43<2B456B;A'4C76:>D@ MD:Z:16C24A8 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:2 SM:i:37 MQ:i:60 OQ:Z:####################################################?5@?//A@''9<-'''78@4%.12?:3@-02;1@277@7@'1B627=BB UQ:i:11 +20GAVAAXX100126:8:63:18841:113901 595 chr1 10007842 60 66S35M = 10007517 -359 ACTCCTGACCTCAGGTGATCTGCCCGCTGAGGCATAACTTTTATTTCAGTATCACATTTCAGTTTGTTCTGTGGTCTGCTCCTTTATTTGTTGCTAGGTAA ##################################################################################################### MD:Z:11C23 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:1 SM:i:37 MQ:i:60 OQ:Z:##################################################################################################### UQ:i:2 +20GAVAAXX100126:8:68:20495:7123 147 chr1 10007858 60 55S46M = 10007491 -412 TGAGGCATAACTTTTATTTCAGTCTCACATTTCAGTTTGTTCTGTGGTCTCCTCCTTTTTTTGTTGCTAGGTAAAAAACATTTTTTTTTTTTTTTTTTTTG ########################################################@B);C9,?33277?85ACCCC92(ADDDDDDBCDCCCCCBBCCC@ MD:Z:3A40G0C0 PG:Z:BWA RG:Z:20GAV.8 AM:i:25 NM:i:3 SM:i:25 MQ:i:60 OQ:Z:########################################################A?)BCCB5.(>BBBBBBBBBBBBBBBBBBBB UQ:i:73 +20GAVAAXX100126:8:64:7784:120262 163 chr1 10007860 60 42M59S = 10008147 387 TATTTGTTGCTAGGTAAAAAACATTTTTTTTTTTTTTTTTTTTCTGGTTTCCGGGAATTTTAAAAAATAACTAAAGGCCCGTTTCTTTGGAGTTTCTCAGG @CBB?A@BBBDCBABCDDDDD@BCCCCCCCCCCCBBABBB?############################################################ MD:Z:42 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBCBCBBBBCBBCC@BBBBBBAABCCBBBBBBBBBBBBBB@############################################################ UQ:i:0 +20GAVAAXX100126:8:61:17876:93642 147 chr1 10007872 29 66S35M = 10007468 -438 GGATTAACTTTTTTTTCATCTTCACTTTCAGGTTTGTCTTGTGGTCCCCCCTTTTTTTTTTTCCAGGGAAAAAAAATTTTTTTTTTTTTTTTTTTTGCTGG #####################################################################ACCCA-')CEEEEEDEDDBCDCCCCCBABBC@ MD:Z:2T6C0A24 PG:Z:BWA RG:Z:20GAV.8 AM:i:29 NM:i:3 SM:i:29 MQ:i:29 OQ:Z:#####################################################################?BBB?-''ACCCCCBCBBBBCBBBBBBBBBBB UQ:i:16 +20GAVAAXX100126:8:62:20479:199378 99 chr1 10007875 60 8M1D78M15S = 10008195 420 AAAAAACATTTTTTTTTTTTTTTTTTGCTGGTTTCCAGGTAATTCTAAGAACTAACTAAGGTCCTGTTGCTTGGTGGTTACTAAGGGGGGCAGACAGAGTA CDDBDDABBDDDDDAAAAAAAAAA@3+36;;@@@?A?@@;:=:<.6;;09;BFFFFGCGF=><=?/34504FDDGF34555HBHCF54445555531-425FBDBF################ UQ:i:16 +20GAVAAXX100126:8:7:17495:193398 147 chr1 10007961 60 101M = 10007724 -337 GGAGGCAGACAGAGTATTTTGCACCATCCAAAGGAGGTAATGTAATGCTTAAATGGAAGAAACTGAACCAAACAACGAAAATATGGGCTATGTATTACAAA CD<4A<8)A9:C9%5?-ADA6@AA=@48=4A<>A<:;4?1;89@>AC:AA?;;B?C>>@<;@BBBBBB>5<>>A>>=:>BB8=>A?A?ABBCCCC?CACCCCBCCBB@B;ABBB UQ:i:0 +20GAVAAXX100126:8:63:6242:80411 83 chr1 10007988 60 101M = 10007707 -381 CCAAAGGAGGTAATGTAATGCTTAAATGGAAGAAACTGAACCAAACAACGAAAATATGGGCTATGTATTACAAACAACTCTGACACACTGTTATTTATGAT DDDDDCCDCACDCCACDCCBCDCDDCCBBDDBDDBCCBDCCBDDCBDB;BDDDCCCCBBBCCCCACCDCBBDDBBDBCDCCBBBBBBCCADCCDDCCABCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:44:5440:118213 83 chr1 10008043 60 101M = 10007743 -400 ATGGGCTATGTATTACAAACAACTCTGACACACTGTTATTTATGATATTATAGGAAAGCTTCTCCCAAGGAAAGTGGTGGAAACTCCATCACTTAGACAAG DECCCCCCCACCDCCBDDCBDCCDCCBBBBBCCCADCCDDCCCBCCCDCCCCBBDDCBCDDCDCCBDCBBDDDACBACBBDDBCDCBCDBCCDCDBC@CDC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:4:14239:56438 611 chr1 10008048 60 35M66S = 10008306 358 CTATGTATTACAAACAACTCTGACACACTGTTATTTATGATATTATAGGAAAGCTTCTCCCAAGGAAAGTGGTGGAAGATCCATCACTTAGACAAGTTAGA ##################################################################################################### MD:Z:35 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:##################################################################################################### UQ:i:0 +20GAVAAXX100126:8:68:12222:58992 147 chr1 10008056 60 101M = 10007740 -416 TACAAACAACTCTGACACACTGTTATTTATGATATTATAGGAAAGCTTCTCCCAAGGAAAGTGGTGGAAACTCCATCACTTAGACAAGTTAGAACACAACT BA:CD@CBCAAC@ACCBACAB@DAACCADD:CCC?CCBDC@CAD@CD@CCADBCDD@CCD@BA>>@@CCBCCCCCCCACEDECACBD@DCDBCAA@?@AC@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:A77=AAB>AABCC?DCCCD@CABDCCDACBCBBCC?D@B?CD?CAA?BBBA@@@ECC?D@BAACACC@DC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBCBBBCBBBBBBBBBBBBBBBBCBBBBBBBBB@BB@BAABABBBBBBBBABBBBBBAAB@ABB@B@@AAABAB???@A@7@ABAA?A?A@A?@@@ UQ:i:0 +20GAVAAXX100126:8:45:11956:153764 1699 chr1 10008108 29 56M1D3M1I41M = 10008497 423 CAAGGAAAGTGGTGGACACTCCATCACTTAGACAAGTTAGCACACCCGTGTAAAGGACTCATTTAGTGTCTCAGTGACATTTCTACTGTAATAGCCACTGG >:5=A7=C?A?8+5<:-+76;A86)B12C9>C45);641+&B2/?+4%,775+)A4,B+1))8A/)@1A28')<''(0>AA))A2)7*BB,BBB7(-)B2*(@<(.1)4@B@ACCDD@DBCCCACACCBCCAC?B;AA@?BAC=BCACB=BC@CB?AACB@C?CC:AABACBABAB@DA@@DAACDABAC>4CBCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBABBB@BB?BBBBBABBBBBABBABABABA@B?ABA@ABBAAABAA?BAAA@;@BAB>A?@A<@:AA@@A@@@?A@?@A@@@??<@@;>??>2@@>A UQ:i:0 +20GAVAAXX100126:8:3:8864:24332 1107 chr1 10008145 60 101M = 10007819 -426 TAGAACACAACTGTAAAGGTACTAAAAAGTGTATTAGAGAGATTCATCCTGTAAAAGACCCTGGGGGCTGAGTGTGGTGGCTCATGCCTGTAACCCTAACA DECDBCCCDCCCACDDDCACCCCDDDDDACACCDCDBDBDBCDDBCDCCCACDDDCBBCCCCBBBBBCCBDACACBACBBCDBCCBCCCACDCCCCCBBBC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHFHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:3:8873:24347 83 chr1 10008145 60 101M = 10007819 -426 TAGAACACAACTGTAAAGGTACTAAAAAGTGTATTAGAGAGATTCATCCTGTAAAAGACCCTGGGGGCTGAGTGTGGTGGCTCATGCCTGTAACCCTAACA DECDCCCCDCCCACDDDCACCCCDDDDDACACCDCDBDBDBCDDBCDCCCACDDDCBACCCCBBBBBCCBDACACBACBBCDBCCBCCCACDCCCCCBBBC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:64:7784:120262 83 chr1 10008147 60 101M = 10007860 -387 GAACACAACTGTAAAGGTACTAAAAAGTGTATTAGAGAGATTCATCCTGTAAAAGACCCTGGGGGCTGAGTGTGGTGGCTCATGCCTGTAACCCTAACACT DECCCCDCCCACDDDCACCCCDDDDDACACCDCDBDBDBCDDBCDCCCACDDDDBACCCCBBBBBCCBCACACBACBBCDBCCBCCCACDCCCCCDC@BCC MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:HHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHIHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH UQ:i:0 +20GAVAAXX100126:8:4:10255:86573 99 chr1 10008172 60 101M = 10008499 427 AGTGTATTAGAGAGATTCATCCTGTAAAAGACCCTGGGGGCTGAGTGTGGTGGCTCATGCCTGTAACCCTAACACTTTGGGAGGGTGAAGCAGAAGGATCA CCB@CCCDCCDCDCDCDBCCBBCBBCDDDCDABBCBCCCCBCBDCBBBBCBBCBDBCCBBBDBCCD=BBDCDACADDDBCCDCCB7)(=DB@@B MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:@AB?BCCBCBABCCCCCCCCCCCCCCCBBCCCBCA?BBABBCBBBBBBBBBBCA:@B>B34B7.8.3::%=859B=5:3(':@>>8C UQ:i:0 +20GAVAAXX100126:8:5:20728:120252 163 chr1 10008188 60 93M8S = 10008458 370 TCATCCTGTAAAAGACCCTGGGGGCTGAGTGTGGTGGCTCATGCCTGTAACCCTAACACTTTGGGAGGGTGAAGCAGAAGGATCACTTGAGTCCAGGAGTT @BBBAABBABCDCABACCDBCCCCABBBC@CBBC::7<=<>>;?==B?>?7@C9AC???CBC@?A5?@B=<>B<:A==27=6;=@@>B77:B######### MD:Z:93 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BBBBBBCBBBBBBB?BBBBBBBBBA@B?B=B?BA9==?????==@6?<:?=<.6=45==@6@519?######### UQ:i:0 +20GAVAAXX100126:8:62:20479:199378 147 chr1 10008195 60 101M = 10007875 -420 GTAAAAGACCCTGGGGGCTGAGTGTGGTGGCTCATGCCTGTAACCCTAACACTTTGGGAGGGTGAAGCAGAAGGATCACTTGAGTCCAGGAGTTTGAGACC ADB;@BB?C:AC@BDC7AD@C@D?BA@ABBACBB@?CBC@BC@D9CCAB?>CCDCCACCBB@?AAC@CDCBECBCCCBCEDCEBCCCBCCDADCA@AAAC@ MD:Z:101 PG:Z:BWA RG:Z:20GAV.8 AM:i:37 NM:i:0 SM:i:37 MQ:i:60 OQ:Z:BA@4;?? -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##FILTER= -##FILTER= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA00001 NA00002 NA00003 -20 14370 rs6054257 G A 29 PASS NS=3;DP=14;AF=0.5;DB;H2 GT:GQ:DP:HQ 0|0:48:1:51,51 1|0:48:8:51,51 1/1:43:5:.,. -20 17330 . T A 3 q10 NS=3;DP=11;AF=0.017 GT:GQ:DP:HQ 0|0:49:3:58,50 0|1:3:5:65,3 0/0:41:3 -20 1110696 rs6040355 A G,T 67 PASS NS=2;DP=10;AF=0.333,0.667;AA=T;DB GT:GQ:DP:HQ 1|2:21:6:23,27 2|1:2:0:18,2 2/2:35:4 -20 1230237 . T . 47 PASS NS=3;DP=13;AA=T GT:GQ:DP:HQ 0|0:54:7:56,60 0|0:48:4:51,51 0/0:61:2 -20 1234567 microsat1 GTCT G,GTACT 50 PASS NS=3;DP=9;AA=G GT:GQ:DP 0/1:35:4 0/2:17:2 1/1:40:3 -20 1234587 supersite GGGG G 50 PASS NS=3;DP=9;AA=G GT:GQ:DP 0/1:35:4 0/0:17:2 1/1:40:3 -22 17580633 . ACNCCTAANCC AC 100 PASS NS=3;DP=9;AA=G GT:GQ:DP:HQ 0|0:48:1:51,51 1|0:48:8:51,51 1/1:43:5:.,. diff --git a/public/testdata/vcf/vcfWithoutGenotypes.vcf b/public/testdata/vcf/vcfWithoutGenotypes.vcf deleted file mode 100644 index b8617aa6a..000000000 --- a/public/testdata/vcf/vcfWithoutGenotypes.vcf +++ /dev/null @@ -1,20 +0,0 @@ -##fileformat=VCFv4.0 -##fileDate=20090805 -##source=myImputationProgramV3.1 -##reference=1000GenomesPilot-NCBI36 -##phasing=partial -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##FILTER= -##FILTER= -#CHROM POS ID REF ALT QUAL FILTER INFO -20 14370 rs6054257 G A 29 PASS NS=3;DP=14;AF=0.5;DB;H2 -20 17330 . T A 3 q10 NS=3;DP=11;AF=0.017 GT:GQ:DP:HQ -20 1110696 rs6040355 A G,T 67 PASS NS=2;DP=10;AF=0.333,0.667;AA=T;DB -20 1230237 . T . 47 PASS NS=3;DP=13;AA=T GT:GQ:DP:HQ -20 1234567 microsat1 GTCT G,GTACT 50 PASS NS=3;DP=9;AA=G -20 1234587 supersite GGGG G 50 PASS NS=3;DP=9;AA=G \ No newline at end of file diff --git a/public/testdata/withSymbolic.b37.vcf b/public/testdata/withSymbolic.b37.vcf deleted file mode 100644 index 4974f1229..000000000 --- a/public/testdata/withSymbolic.b37.vcf +++ /dev/null @@ -1,96 +0,0 @@ -##fileformat=VCFv4.1 -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##INFO= -##ALT= -##FORMAT= -##FORMAT= -##FORMAT= -##FORMAT= -#CHROM POS ID REF ALT QUAL FILTER INFO -20 315006 . A G 100 PASS LCSNP;EXSNP;BAVGPOST=0.998;BRSQ=0.721;LDAF=0.0025;AVGPOST=0.9978;RSQ=0.6449;ERATE=0.0008;THETA=0.0006;AC=4;AN=2184 -20 315072 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.996;LDAF=0.0057;AVGPOST=0.9996;RSQ=0.9743;ERATE=0.0003;THETA=0.0016;AC=12;AN=2184 -20 315162 . T G 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.950;LDAF=0.0005;AVGPOST=0.9998;RSQ=0.8078;ERATE=0.0003;THETA=0.0004;AC=1;AN=2184 -20 315168 rs71327439 G GA 7142 PASS INDEL;BAVGPOST=0.999;BRSQ=0.990;LDAF=0.0575;AVGPOST=0.9985;RSQ=0.9891;ERATE=0.0003;THETA=0.0004;AC=125;AN=2184 -20 315201 . A G 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.965;LDAF=0.0005;AVGPOST=0.9999;RSQ=0.8599;ERATE=0.0003;THETA=0.0008;AC=1;AN=2184 -20 315214 . T C 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.974;LDAF=0.0009;AVGPOST=0.9990;RSQ=0.5860;ERATE=0.0003;THETA=0.0005;AC=1;AN=2184 -20 315270 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.999;LDAF=0.0557;AVGPOST=0.9992;RSQ=0.9950;ERATE=0.0003;THETA=0.0004;AC=121;AN=2184 -20 315279 . A G 100 PASS LCSNP;EXSNP;BAVGPOST=0.999;BRSQ=0.991;LDAF=0.0572;AVGPOST=0.9990;RSQ=0.9926;ERATE=0.0003;THETA=0.0013;AC=125;AN=2184 -20 315320 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.995;LDAF=0.0028;AVGPOST=0.9998;RSQ=0.9594;ERATE=0.0005;THETA=0.0003;AC=6;AN=2184 -20 315322 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=0.999;BRSQ=0.814;LDAF=0.0007;AVGPOST=0.9994;RSQ=0.6510;ERATE=0.0003;THETA=0.0004;AC=1;AN=2184 -20 315431 . A T 100 PASS LCSNP;EXSNP;BAVGPOST=0.987;BRSQ=0.864;LDAF=0.0431;AVGPOST=0.9873;RSQ=0.8675;ERATE=0.0006;THETA=0.0010;AC=86;AN=2184 -20 315481 . T A 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.998;LDAF=0.0619;AVGPOST=0.9993;RSQ=0.9948;ERATE=0.0003;THETA=0.0007;AC=135;AN=2184 -20 315490 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.984;LDAF=0.0138;AVGPOST=0.9971;RSQ=0.9260;ERATE=0.0003;THETA=0.0046;AC=31;AN=2184 -20 315523 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.822;LDAF=0.0015;AVGPOST=0.9988;RSQ=0.6777;ERATE=0.0005;THETA=0.0003;AC=2;AN=2184 -20 315547 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=0.999;BRSQ=0.893;LDAF=0.0026;AVGPOST=0.9995;RSQ=0.9024;ERATE=0.0003;THETA=0.0004;AC=5;AN=2184 -20 315549 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=0.999;BRSQ=0.888;LDAF=0.0029;AVGPOST=0.9988;RSQ=0.8565;ERATE=0.0003;THETA=0.0013;AC=5;AN=2184 -20 315551 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.829;LDAF=0.0008;AVGPOST=0.9992;RSQ=0.5723;ERATE=0.0003;THETA=0.0012;AC=1;AN=2184 -20 315704 . G C 100 PASS LCSNP;EXSNP;BAVGPOST=0.998;BRSQ=0.945;LDAF=0.0184;AVGPOST=0.9978;RSQ=0.9523;ERATE=0.0003;THETA=0.0017;AC=40;AN=2184 -20 315798 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.773;LDAF=0.0012;AVGPOST=0.9985;RSQ=0.4929;ERATE=0.0003;THETA=0.0005;AC=1;AN=2184 -20 315842 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.979;LDAF=0.0110;AVGPOST=0.9991;RSQ=0.9673;ERATE=0.0003;THETA=0.0005;AC=23;AN=2184 -20 315876 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.926;LDAF=0.0018;AVGPOST=0.9988;RSQ=0.7731;ERATE=0.0003;THETA=0.0007;AC=3;AN=2184 -20 316028 . G C 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.999;LDAF=0.0714;AVGPOST=0.9997;RSQ=0.9982;ERATE=0.0003;THETA=0.0003;AC=156;AN=2184 -20 316055 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=0.999;BRSQ=0.997;LDAF=0.1006;AVGPOST=0.9993;RSQ=0.9969;ERATE=0.0003;THETA=0.0007;AC=220;AN=2184 -20 316137 . G C 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.976;LDAF=0.0037;AVGPOST=0.9982;RSQ=0.7861;ERATE=0.0004;THETA=0.0009;AC=6;AN=2184 -20 316142 . C A 100 PASS LCSNP;EXSNP;BAVGPOST=0.998;BRSQ=0.793;LDAF=0.0033;AVGPOST=0.9980;RSQ=0.7527;ERATE=0.0003;THETA=0.0003;AC=6;AN=2184 -20 316143 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=0.999;BRSQ=0.839;LDAF=0.0034;AVGPOST=0.9984;RSQ=0.8054;ERATE=0.0003;THETA=0.0003;AC=6;AN=2184 -20 316211 . C G 100 PASS LCSNP;EXSNP;BAVGPOST=0.997;BRSQ=0.976;LDAF=0.0565;AVGPOST=0.9983;RSQ=0.9872;ERATE=0.0003;THETA=0.0010;AC=124;AN=2184 -20 316285 . A AT 5514 PASS INDEL;BAVGPOST=0.999;BRSQ=0.993;LDAF=0.0552;AVGPOST=0.9978;RSQ=0.9829;ERATE=0.0004;THETA=0.0005;AC=119;AN=2184 -20 316295 . A G 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.808;LDAF=0.0021;AVGPOST=0.9980;RSQ=0.6390;ERATE=0.0003;THETA=0.0008;AC=4;AN=2184 -20 316481 . G T 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=1.000;LDAF=0.0499;AVGPOST=0.9997;RSQ=0.9970;ERATE=0.0003;THETA=0.0007;AC=109;AN=2184 -20 316488 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.897;LDAF=0.0011;AVGPOST=0.9997;RSQ=0.8509;ERATE=0.0003;THETA=0.0006;AC=2;AN=2184 -20 316553 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.945;LDAF=0.0007;AVGPOST=0.9996;RSQ=0.7074;ERATE=0.0003;THETA=0.0004;AC=1;AN=2184 -20 316659 . T C 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.998;LDAF=0.0497;AVGPOST=0.9995;RSQ=0.9960;ERATE=0.0003;THETA=0.0007;AC=109;AN=2184 -20 316691 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.985;LDAF=0.0058;AVGPOST=0.9989;RSQ=0.9301;ERATE=0.0003;THETA=0.0003;AC=13;AN=2184 -20 316700 . A G 100 PASS LCSNP;EXSNP;BAVGPOST=0.999;BRSQ=0.737;LDAF=0.0030;AVGPOST=0.9971;RSQ=0.5700;ERATE=0.0009;THETA=0.0016;AC=4;AN=2184 -20 316725 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.853;LDAF=0.0011;AVGPOST=0.9995;RSQ=0.7944;ERATE=0.0003;THETA=0.0004;AC=2;AN=2184 -20 316770 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.966;LDAF=0.0017;AVGPOST=0.9991;RSQ=0.7543;ERATE=0.0005;THETA=0.0005;AC=3;AN=2184 -20 316813 . GTTC G 1701 PASS INDEL;BAVGPOST=0.995;BRSQ=0.850;LDAF=0.0156;AVGPOST=0.9987;RSQ=0.9611;ERATE=0.0003;THETA=0.0006;AC=34;AN=2184 -20 316824 rs11472305 T TTTC 5129 PASS INDEL;BAVGPOST=0.979;BRSQ=0.863;LDAF=0.0697;AVGPOST=0.9782;RSQ=0.8837;ERATE=0.0016;THETA=0.0006;AC=153;AN=2184 -20 316839 . CT C 1122 PASS INDEL;BAVGPOST=0.980;BRSQ=0.804;LDAF=0.0505;AVGPOST=0.9743;RSQ=0.8100;ERATE=0.0040;THETA=0.0009;AC=104;AN=2184 -20 316841 . TTC T 1096 PASS INDEL;BAVGPOST=0.981;BRSQ=0.824;LDAF=0.0491;AVGPOST=0.9783;RSQ=0.8367;ERATE=0.0029;THETA=0.0005;AC=105;AN=2184 -20 316842 . TCC T 110 PASS INDEL;BAVGPOST=0.983;BRSQ=0.592;LDAF=0.0203;AVGPOST=0.9772;RSQ=0.5576;ERATE=0.0022;THETA=0.0005;AC=30;AN=2184 -20 316845 . T C 100 PASS LCSNP;EXSNP;BAVGPOST=0.999;BRSQ=0.645;LDAF=0.0015;AVGPOST=0.9989;RSQ=0.6666;ERATE=0.0003;THETA=0.0010;AC=2;AN=2184 -20 316853 . T C 100 PASS LCSNP;EXSNP;BAVGPOST=0.990;BRSQ=0.922;LDAF=0.0688;AVGPOST=0.9742;RSQ=0.8456;ERATE=0.0049;THETA=0.0006;AC=133;AN=2184 -20 316882 rs11479165 CT C 145 PASS INDEL;BAVGPOST=0.991;BRSQ=0.484;LDAF=0.0074;AVGPOST=0.9920;RSQ=0.5655;ERATE=0.0005;THETA=0.0014;AC=9;AN=2184 -20 316889 . T TTC 108 PASS INDEL;BAVGPOST=0.978;BRSQ=0.235;LDAF=0.0521;AVGPOST=0.9304;RSQ=0.4479;ERATE=0.0035;THETA=0.0016;AC=63;AN=2184 -20 316901 . T TTC 272 PASS INDEL;BAVGPOST=0.979;BRSQ=0.510;LDAF=0.0363;AVGPOST=0.9527;RSQ=0.4348;ERATE=0.0071;THETA=0.0003;AC=34;AN=2184 -20 316917 . CT C 67 PASS INDEL;BAVGPOST=0.983;BRSQ=0.483;LDAF=0.0265;AVGPOST=0.9828;RSQ=0.7509;ERATE=0.0006;THETA=0.0011;AC=51;AN=2184 -20 316918 rs112071142 TTTC T 3049 PASS INDEL;BAVGPOST=0.980;BRSQ=0.801;LDAF=0.0588;AVGPOST=0.9761;RSQ=0.8444;ERATE=0.0026;THETA=0.0005;AC=120;AN=2184 -20 316924 . CT C 8 PASS INDEL;BAVGPOST=0.999;BRSQ=0.581;LDAF=0.0053;AVGPOST=0.9932;RSQ=0.5513;ERATE=0.0004;THETA=0.0011;AC=6;AN=2184 -20 316936 . T C 100 PASS LCSNP;EXSNP;BAVGPOST=0.994;BRSQ=0.651;LDAF=0.0098;AVGPOST=0.9884;RSQ=0.5505;ERATE=0.0018;THETA=0.0005;AC=13;AN=2184 -20 316939 . T C 100 PASS LCSNP;EXSNP;BAVGPOST=0.997;BRSQ=0.720;LDAF=0.0071;AVGPOST=0.9899;RSQ=0.4845;ERATE=0.0010;THETA=0.0033;AC=8;AN=2184 -20 316952 . CTCTTCCTCTTCT C 15835 PASS INDEL;BAVGPOST=0.891;BRSQ=0.667;LDAF=0.1650;AVGPOST=0.9042;RSQ=0.7274;ERATE=0.0037;THETA=0.0008;AC=294;AN=2184 -20 317003 . TCC T 333 PASS INDEL;BAVGPOST=0.890;BRSQ=0.114;LDAF=0.3450;AVGPOST=0.5526;RSQ=0.1674;ERATE=0.0300;THETA=0.0011;AC=350;AN=2184 -20 317022 rs111424933 TTTC T 4776 PASS INDEL;BAVGPOST=0.982;BRSQ=0.865;LDAF=0.0561;AVGPOST=0.9837;RSQ=0.8889;ERATE=0.0017;THETA=0.0004;AC=110;AN=2184 -20 317057 . C A 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.775;LDAF=0.0014;AVGPOST=0.9985;RSQ=0.6049;ERATE=0.0003;THETA=0.0002;AC=3;AN=2184 -20 317135 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=0.995;BRSQ=0.992;LDAF=0.0489;AVGPOST=0.9964;RSQ=0.9749;ERATE=0.0004;THETA=0.0025;AC=106;AN=2184 -20 317173 MERGED_DEL_2_99440 A . . SV;BAVGPOST=0.998;BRSQ=0.577;LDAF=0.0018;AVGPOST=0.9990;RSQ=0.7465;ERATE=0.0003;THETA=0.0007;CIEND=-61,92;CIPOS=-84,73;END=319201;SOURCE=BreakDancer_317182_319211,GenomeStrip_317164_319190;SVTYPE=DEL;AC=2;AN=2184 -20 317174 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=0.995;BRSQ=0.991;LDAF=0.0502;AVGPOST=0.9962;RSQ=0.9727;ERATE=0.0005;THETA=0.0007;AC=107;AN=2184 -20 317266 . T C 100 PASS LCSNP;EXSNP;BAVGPOST=0.999;BRSQ=0.999;LDAF=0.1748;AVGPOST=0.9988;RSQ=0.9973;ERATE=0.0003;THETA=0.0005;AC=383;AN=2184 -20 317448 . A G 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.999;LDAF=0.0068;AVGPOST=0.9988;RSQ=0.9405;ERATE=0.0003;THETA=0.0002;AC=16;AN=2184 -20 317491 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=0.999;BRSQ=0.991;LDAF=0.0609;AVGPOST=0.9993;RSQ=0.9939;ERATE=0.0003;THETA=0.0004;AC=133;AN=2184 -20 317546 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.837;LDAF=0.0007;AVGPOST=0.9994;RSQ=0.6154;ERATE=0.0003;THETA=0.0012;AC=1;AN=2184 -20 317578 . C T 100 PASS LCSNP;EXSNP;BAVGPOST=0.996;BRSQ=0.882;LDAF=0.0180;AVGPOST=0.9981;RSQ=0.9606;ERATE=0.0003;THETA=0.0004;AC=40;AN=2184 -20 317658 . T C 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=1.000;LDAF=0.0609;AVGPOST=0.9998;RSQ=0.9980;ERATE=0.0003;THETA=0.0005;AC=133;AN=2184 -20 317676 . T C 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=1.000;LDAF=0.0608;AVGPOST=0.9999;RSQ=0.9992;ERATE=0.0003;THETA=0.0004;AC=133;AN=2184 -20 317710 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.952;LDAF=0.0014;AVGPOST=0.9997;RSQ=0.8880;ERATE=0.0004;THETA=0.0008;AC=3;AN=2184 -20 317824 . G A 100 PASS LCSNP;EXSNP;BAVGPOST=1.000;BRSQ=0.999;LDAF=0.0555;AVGPOST=0.9993;RSQ=0.9947;ERATE=0.0003;THETA=0.0009;AC=121;AN=2184 diff --git a/settings/helpTemplates/bootstrap.min.css b/settings/helpTemplates/bootstrap.min.css new file mode 100755 index 000000000..34d1df853 --- /dev/null +++ b/settings/helpTemplates/bootstrap.min.css @@ -0,0 +1,727 @@ +/*! + * Bootstrap v2.0.4 + * + * Copyright 2012 Twitter, Inc + * Licensed under the Apache License v2.0 + * http://www.apache.org/licenses/LICENSE-2.0 + * + * Designed and built with all the love in the world @twitter by @mdo and @fat. + */ +.clearfix{*zoom:1;}.clearfix:before,.clearfix:after{display:table;content:"";} +.clearfix:after{clear:both;} +.hide-text{font:0/0 a;color:transparent;text-shadow:none;background-color:transparent;border:0;} +.input-block-level{display:block;width:100%;min-height:28px;-webkit-box-sizing:border-box;-moz-box-sizing:border-box;-ms-box-sizing:border-box;box-sizing:border-box;} 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.icon-bar{display:block;width:18px;height:2px;background-color:#f5f5f5;-webkit-border-radius:1px;-moz-border-radius:1px;border-radius:1px;-webkit-box-shadow:0 1px 0 rgba(0, 0, 0, 0.25);-moz-box-shadow:0 1px 0 rgba(0, 0, 0, 0.25);box-shadow:0 1px 0 rgba(0, 0, 0, 0.25);} +.btn-navbar .icon-bar+.icon-bar{margin-top:3px;} +.navbar .dropdown-menu:before{content:'';display:inline-block;border-left:7px solid transparent;border-right:7px solid transparent;border-bottom:7px solid #ccc;border-bottom-color:rgba(0, 0, 0, 0.2);position:absolute;top:-7px;left:9px;} +.navbar .dropdown-menu:after{content:'';display:inline-block;border-left:6px solid transparent;border-right:6px solid transparent;border-bottom:6px solid #ffffff;position:absolute;top:-6px;left:10px;} +.navbar-fixed-bottom .dropdown-menu:before{border-top:7px solid #ccc;border-top-color:rgba(0, 0, 0, 0.2);border-bottom:0;bottom:-7px;top:auto;} +.navbar-fixed-bottom .dropdown-menu:after{border-top:6px solid #ffffff;border-bottom:0;bottom:-6px;top:auto;} +.navbar .nav li.dropdown .dropdown-toggle .caret,.navbar .nav li.dropdown.open .caret{border-top-color:#ffffff;border-bottom-color:#ffffff;} +.navbar .nav li.dropdown.active .caret{opacity:1;filter:alpha(opacity=100);} +.navbar .nav li.dropdown.open>.dropdown-toggle,.navbar .nav li.dropdown.active>.dropdown-toggle,.navbar .nav li.dropdown.open.active>.dropdown-toggle{background-color:transparent;} +.navbar .nav li.dropdown.active>.dropdown-toggle:hover{color:#ffffff;} +.navbar .pull-right .dropdown-menu,.navbar .dropdown-menu.pull-right{left:auto;right:0;}.navbar .pull-right .dropdown-menu:before,.navbar .dropdown-menu.pull-right:before{left:auto;right:12px;} +.navbar .pull-right .dropdown-menu:after,.navbar .dropdown-menu.pull-right:after{left:auto;right:13px;} +.breadcrumb{padding:7px 14px;margin:0 0 18px;list-style:none;background-color:#fbfbfb;background-image:-moz-linear-gradient(top, #ffffff, #f5f5f5);background-image:-ms-linear-gradient(top, #ffffff, #f5f5f5);background-image:-webkit-gradient(linear, 0 0, 0 100%, from(#ffffff), to(#f5f5f5));background-image:-webkit-linear-gradient(top, #ffffff, #f5f5f5);background-image:-o-linear-gradient(top, #ffffff, #f5f5f5);background-image:linear-gradient(top, #ffffff, #f5f5f5);background-repeat:repeat-x;filter:progid:DXImageTransform.Microsoft.gradient(startColorstr='#ffffff', endColorstr='#f5f5f5', GradientType=0);border:1px solid #ddd;-webkit-border-radius:3px;-moz-border-radius:3px;border-radius:3px;-webkit-box-shadow:inset 0 1px 0 #ffffff;-moz-box-shadow:inset 0 1px 0 #ffffff;box-shadow:inset 0 1px 0 #ffffff;}.breadcrumb li{display:inline-block;*display:inline;*zoom:1;text-shadow:0 1px 0 #ffffff;} +.breadcrumb .divider{padding:0 5px;color:#999999;} +.breadcrumb .active a{color:#333333;} +.pagination{height:36px;margin:18px 0;} +.pagination ul{display:inline-block;*display:inline;*zoom:1;margin-left:0;margin-bottom:0;-webkit-border-radius:3px;-moz-border-radius:3px;border-radius:3px;-webkit-box-shadow:0 1px 2px rgba(0, 0, 0, 0.05);-moz-box-shadow:0 1px 2px rgba(0, 0, 0, 0.05);box-shadow:0 1px 2px rgba(0, 0, 0, 0.05);} +.pagination li{display:inline;} +.pagination a{float:left;padding:0 14px;line-height:34px;text-decoration:none;border:1px solid #ddd;border-left-width:0;} +.pagination a:hover,.pagination .active a{background-color:#f5f5f5;} +.pagination .active a{color:#999999;cursor:default;} +.pagination .disabled span,.pagination .disabled a,.pagination .disabled a:hover{color:#999999;background-color:transparent;cursor:default;} +.pagination li:first-child a{border-left-width:1px;-webkit-border-radius:3px 0 0 3px;-moz-border-radius:3px 0 0 3px;border-radius:3px 0 0 3px;} +.pagination li:last-child a{-webkit-border-radius:0 3px 3px 0;-moz-border-radius:0 3px 3px 0;border-radius:0 3px 3px 0;} +.pagination-centered{text-align:center;} +.pagination-right{text-align:right;} +.pager{margin-left:0;margin-bottom:18px;list-style:none;text-align:center;*zoom:1;}.pager:before,.pager:after{display:table;content:"";} +.pager:after{clear:both;} +.pager li{display:inline;} +.pager a{display:inline-block;padding:5px 14px;background-color:#fff;border:1px solid #ddd;-webkit-border-radius:15px;-moz-border-radius:15px;border-radius:15px;} +.pager a:hover{text-decoration:none;background-color:#f5f5f5;} +.pager .next a{float:right;} +.pager .previous a{float:left;} +.pager .disabled a,.pager .disabled a:hover{color:#999999;background-color:#fff;cursor:default;} +.thumbnails{margin-left:-20px;list-style:none;*zoom:1;}.thumbnails:before,.thumbnails:after{display:table;content:"";} +.thumbnails:after{clear:both;} +.row-fluid .thumbnails{margin-left:0;} +.thumbnails>li{float:left;margin-bottom:18px;margin-left:20px;} +.thumbnail{display:block;padding:4px;line-height:1;border:1px solid #ddd;-webkit-border-radius:4px;-moz-border-radius:4px;border-radius:4px;-webkit-box-shadow:0 1px 1px rgba(0, 0, 0, 0.075);-moz-box-shadow:0 1px 1px rgba(0, 0, 0, 0.075);box-shadow:0 1px 1px rgba(0, 0, 0, 0.075);} +a.thumbnail:hover{border-color:#0088cc;-webkit-box-shadow:0 1px 4px rgba(0, 105, 214, 0.25);-moz-box-shadow:0 1px 4px rgba(0, 105, 214, 0.25);box-shadow:0 1px 4px rgba(0, 105, 214, 0.25);} +.thumbnail>img{display:block;max-width:100%;margin-left:auto;margin-right:auto;} +.thumbnail .caption{padding:9px;} +.alert{padding:8px 35px 8px 14px;margin-bottom:18px;text-shadow:0 1px 0 rgba(255, 255, 255, 0.5);background-color:#fcf8e3;border:1px solid #fbeed5;-webkit-border-radius:4px;-moz-border-radius:4px;border-radius:4px;color:#c09853;} +.alert-heading{color:inherit;} +.alert .close{position:relative;top:-2px;right:-21px;line-height:18px;} +.alert-success{background-color:#dff0d8;border-color:#d6e9c6;color:#468847;} +.alert-danger,.alert-error{background-color:#f2dede;border-color:#eed3d7;color:#b94a48;} +.alert-info{background-color:#d9edf7;border-color:#bce8f1;color:#3a87ad;} +.alert-block{padding-top:14px;padding-bottom:14px;} +.alert-block>p,.alert-block>ul{margin-bottom:0;} +.alert-block p+p{margin-top:5px;} +@-webkit-keyframes progress-bar-stripes{from{background-position:40px 0;} to{background-position:0 0;}}@-moz-keyframes progress-bar-stripes{from{background-position:40px 0;} to{background-position:0 0;}}@-ms-keyframes progress-bar-stripes{from{background-position:40px 0;} to{background-position:0 0;}}@-o-keyframes progress-bar-stripes{from{background-position:0 0;} to{background-position:40px 0;}}@keyframes progress-bar-stripes{from{background-position:40px 0;} to{background-position:0 0;}}.progress{overflow:hidden;height:18px;margin-bottom:18px;background-color:#f7f7f7;background-image:-moz-linear-gradient(top, #f5f5f5, #f9f9f9);background-image:-ms-linear-gradient(top, #f5f5f5, #f9f9f9);background-image:-webkit-gradient(linear, 0 0, 0 100%, from(#f5f5f5), to(#f9f9f9));background-image:-webkit-linear-gradient(top, #f5f5f5, #f9f9f9);background-image:-o-linear-gradient(top, #f5f5f5, #f9f9f9);background-image:linear-gradient(top, #f5f5f5, #f9f9f9);background-repeat:repeat-x;filter:progid:DXImageTransform.Microsoft.gradient(startColorstr='#f5f5f5', endColorstr='#f9f9f9', GradientType=0);-webkit-box-shadow:inset 0 1px 2px rgba(0, 0, 0, 0.1);-moz-box-shadow:inset 0 1px 2px rgba(0, 0, 0, 0.1);box-shadow:inset 0 1px 2px rgba(0, 0, 0, 0.1);-webkit-border-radius:4px;-moz-border-radius:4px;border-radius:4px;} +.progress .bar{width:0%;height:18px;color:#ffffff;font-size:12px;text-align:center;text-shadow:0 -1px 0 rgba(0, 0, 0, 0.25);background-color:#0e90d2;background-image:-moz-linear-gradient(top, #149bdf, #0480be);background-image:-ms-linear-gradient(top, #149bdf, #0480be);background-image:-webkit-gradient(linear, 0 0, 0 100%, from(#149bdf), to(#0480be));background-image:-webkit-linear-gradient(top, #149bdf, #0480be);background-image:-o-linear-gradient(top, #149bdf, #0480be);background-image:linear-gradient(top, #149bdf, #0480be);background-repeat:repeat-x;filter:progid:DXImageTransform.Microsoft.gradient(startColorstr='#149bdf', endColorstr='#0480be', GradientType=0);-webkit-box-shadow:inset 0 -1px 0 rgba(0, 0, 0, 0.15);-moz-box-shadow:inset 0 -1px 0 rgba(0, 0, 0, 0.15);box-shadow:inset 0 -1px 0 rgba(0, 0, 0, 0.15);-webkit-box-sizing:border-box;-moz-box-sizing:border-box;-ms-box-sizing:border-box;box-sizing:border-box;-webkit-transition:width 0.6s ease;-moz-transition:width 0.6s ease;-ms-transition:width 0.6s ease;-o-transition:width 0.6s ease;transition:width 0.6s ease;} +.progress-striped .bar{background-color:#149bdf;background-image:-webkit-gradient(linear, 0 100%, 100% 0, color-stop(0.25, rgba(255, 255, 255, 0.15)), color-stop(0.25, transparent), color-stop(0.5, transparent), color-stop(0.5, rgba(255, 255, 255, 0.15)), color-stop(0.75, rgba(255, 255, 255, 0.15)), color-stop(0.75, transparent), to(transparent));background-image:-webkit-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-moz-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-ms-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-o-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);-webkit-background-size:40px 40px;-moz-background-size:40px 40px;-o-background-size:40px 40px;background-size:40px 40px;} +.progress.active .bar{-webkit-animation:progress-bar-stripes 2s linear infinite;-moz-animation:progress-bar-stripes 2s linear infinite;-ms-animation:progress-bar-stripes 2s linear infinite;-o-animation:progress-bar-stripes 2s linear infinite;animation:progress-bar-stripes 2s linear infinite;} +.progress-danger .bar{background-color:#dd514c;background-image:-moz-linear-gradient(top, #ee5f5b, #c43c35);background-image:-ms-linear-gradient(top, #ee5f5b, #c43c35);background-image:-webkit-gradient(linear, 0 0, 0 100%, from(#ee5f5b), to(#c43c35));background-image:-webkit-linear-gradient(top, #ee5f5b, #c43c35);background-image:-o-linear-gradient(top, #ee5f5b, #c43c35);background-image:linear-gradient(top, #ee5f5b, #c43c35);background-repeat:repeat-x;filter:progid:DXImageTransform.Microsoft.gradient(startColorstr='#ee5f5b', endColorstr='#c43c35', GradientType=0);} +.progress-danger.progress-striped .bar{background-color:#ee5f5b;background-image:-webkit-gradient(linear, 0 100%, 100% 0, color-stop(0.25, rgba(255, 255, 255, 0.15)), color-stop(0.25, transparent), color-stop(0.5, transparent), color-stop(0.5, rgba(255, 255, 255, 0.15)), color-stop(0.75, rgba(255, 255, 255, 0.15)), color-stop(0.75, transparent), to(transparent));background-image:-webkit-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-moz-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-ms-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-o-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);} +.progress-success .bar{background-color:#5eb95e;background-image:-moz-linear-gradient(top, #62c462, #57a957);background-image:-ms-linear-gradient(top, #62c462, #57a957);background-image:-webkit-gradient(linear, 0 0, 0 100%, from(#62c462), to(#57a957));background-image:-webkit-linear-gradient(top, #62c462, #57a957);background-image:-o-linear-gradient(top, #62c462, #57a957);background-image:linear-gradient(top, #62c462, #57a957);background-repeat:repeat-x;filter:progid:DXImageTransform.Microsoft.gradient(startColorstr='#62c462', endColorstr='#57a957', GradientType=0);} +.progress-success.progress-striped .bar{background-color:#62c462;background-image:-webkit-gradient(linear, 0 100%, 100% 0, color-stop(0.25, rgba(255, 255, 255, 0.15)), color-stop(0.25, transparent), color-stop(0.5, transparent), color-stop(0.5, rgba(255, 255, 255, 0.15)), color-stop(0.75, rgba(255, 255, 255, 0.15)), color-stop(0.75, transparent), to(transparent));background-image:-webkit-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-moz-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-ms-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-o-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);} +.progress-info .bar{background-color:#4bb1cf;background-image:-moz-linear-gradient(top, #5bc0de, #339bb9);background-image:-ms-linear-gradient(top, #5bc0de, #339bb9);background-image:-webkit-gradient(linear, 0 0, 0 100%, from(#5bc0de), to(#339bb9));background-image:-webkit-linear-gradient(top, #5bc0de, #339bb9);background-image:-o-linear-gradient(top, #5bc0de, #339bb9);background-image:linear-gradient(top, #5bc0de, #339bb9);background-repeat:repeat-x;filter:progid:DXImageTransform.Microsoft.gradient(startColorstr='#5bc0de', endColorstr='#339bb9', GradientType=0);} +.progress-info.progress-striped .bar{background-color:#5bc0de;background-image:-webkit-gradient(linear, 0 100%, 100% 0, color-stop(0.25, rgba(255, 255, 255, 0.15)), color-stop(0.25, transparent), color-stop(0.5, transparent), color-stop(0.5, rgba(255, 255, 255, 0.15)), color-stop(0.75, rgba(255, 255, 255, 0.15)), color-stop(0.75, transparent), to(transparent));background-image:-webkit-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-moz-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-ms-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-o-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);} +.progress-warning .bar{background-color:#faa732;background-image:-moz-linear-gradient(top, #fbb450, #f89406);background-image:-ms-linear-gradient(top, #fbb450, #f89406);background-image:-webkit-gradient(linear, 0 0, 0 100%, from(#fbb450), to(#f89406));background-image:-webkit-linear-gradient(top, #fbb450, #f89406);background-image:-o-linear-gradient(top, #fbb450, #f89406);background-image:linear-gradient(top, #fbb450, #f89406);background-repeat:repeat-x;filter:progid:DXImageTransform.Microsoft.gradient(startColorstr='#fbb450', endColorstr='#f89406', GradientType=0);} +.progress-warning.progress-striped .bar{background-color:#fbb450;background-image:-webkit-gradient(linear, 0 100%, 100% 0, color-stop(0.25, rgba(255, 255, 255, 0.15)), color-stop(0.25, transparent), color-stop(0.5, transparent), color-stop(0.5, rgba(255, 255, 255, 0.15)), color-stop(0.75, rgba(255, 255, 255, 0.15)), color-stop(0.75, transparent), to(transparent));background-image:-webkit-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-moz-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-ms-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:-o-linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);background-image:linear-gradient(-45deg, rgba(255, 255, 255, 0.15) 25%, transparent 25%, transparent 50%, rgba(255, 255, 255, 0.15) 50%, rgba(255, 255, 255, 0.15) 75%, transparent 75%, transparent);} +.hero-unit{padding:60px;margin-bottom:30px;background-color:#eeeeee;-webkit-border-radius:6px;-moz-border-radius:6px;border-radius:6px;}.hero-unit h1{margin-bottom:0;font-size:60px;line-height:1;color:inherit;letter-spacing:-1px;} +.hero-unit p{font-size:18px;font-weight:200;line-height:27px;color:inherit;} +.tooltip{position:absolute;z-index:1020;display:block;visibility:visible;padding:5px;font-size:11px;opacity:0;filter:alpha(opacity=0);}.tooltip.in{opacity:0.8;filter:alpha(opacity=80);} +.tooltip.top{margin-top:-2px;} +.tooltip.right{margin-left:2px;} +.tooltip.bottom{margin-top:2px;} +.tooltip.left{margin-left:-2px;} +.tooltip.top .tooltip-arrow{bottom:0;left:50%;margin-left:-5px;border-left:5px solid transparent;border-right:5px solid transparent;border-top:5px solid #000000;} +.tooltip.left .tooltip-arrow{top:50%;right:0;margin-top:-5px;border-top:5px solid transparent;border-bottom:5px solid transparent;border-left:5px solid #000000;} +.tooltip.bottom .tooltip-arrow{top:0;left:50%;margin-left:-5px;border-left:5px solid transparent;border-right:5px solid transparent;border-bottom:5px solid #000000;} +.tooltip.right .tooltip-arrow{top:50%;left:0;margin-top:-5px;border-top:5px solid transparent;border-bottom:5px solid transparent;border-right:5px solid #000000;} +.tooltip-inner{max-width:200px;padding:3px 8px;color:#ffffff;text-align:center;text-decoration:none;background-color:#000000;-webkit-border-radius:4px;-moz-border-radius:4px;border-radius:4px;} +.tooltip-arrow{position:absolute;width:0;height:0;} +.popover{position:absolute;top:0;left:0;z-index:1010;display:none;padding:5px;}.popover.top{margin-top:-5px;} +.popover.right{margin-left:5px;} +.popover.bottom{margin-top:5px;} +.popover.left{margin-left:-5px;} +.popover.top .arrow{bottom:0;left:50%;margin-left:-5px;border-left:5px solid transparent;border-right:5px solid transparent;border-top:5px solid #000000;} +.popover.right .arrow{top:50%;left:0;margin-top:-5px;border-top:5px solid transparent;border-bottom:5px solid transparent;border-right:5px solid #000000;} +.popover.bottom .arrow{top:0;left:50%;margin-left:-5px;border-left:5px solid transparent;border-right:5px solid transparent;border-bottom:5px solid #000000;} +.popover.left .arrow{top:50%;right:0;margin-top:-5px;border-top:5px solid transparent;border-bottom:5px solid transparent;border-left:5px solid #000000;} +.popover .arrow{position:absolute;width:0;height:0;} +.popover-inner{padding:3px;width:280px;overflow:hidden;background:#000000;background:rgba(0, 0, 0, 0.8);-webkit-border-radius:6px;-moz-border-radius:6px;border-radius:6px;-webkit-box-shadow:0 3px 7px rgba(0, 0, 0, 0.3);-moz-box-shadow:0 3px 7px rgba(0, 0, 0, 0.3);box-shadow:0 3px 7px rgba(0, 0, 0, 0.3);} +.popover-title{padding:9px 15px;line-height:1;background-color:#f5f5f5;border-bottom:1px solid #eee;-webkit-border-radius:3px 3px 0 0;-moz-border-radius:3px 3px 0 0;border-radius:3px 3px 0 0;} +.popover-content{padding:14px;background-color:#ffffff;-webkit-border-radius:0 0 3px 3px;-moz-border-radius:0 0 3px 3px;border-radius:0 0 3px 3px;-webkit-background-clip:padding-box;-moz-background-clip:padding-box;background-clip:padding-box;}.popover-content p,.popover-content ul,.popover-content ol{margin-bottom:0;} +.modal-open 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