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April 15, 2016 21:57
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##fileformat=VCFv4.1 | |
##FILTER=<ID=PASS,Description="All filters passed"> | |
##pipeline_version=DVDS_v1.4.7.4 | |
##resource_version=v1.0.13 | |
##FILTER=<ID=INDEL_SPECIFIC_FILTERS,Description="QD < 2.0 || ReadPosRankSum < -20.0 || InbreedingCoeff < -0.8 || FS > 200.0"> | |
##FILTER=<ID=LowQual,Description="Low quality"> | |
##FILTER=<ID=VQSRTrancheSNP99.00to99.90,Description="Truth sensitivity tranche level for SNP model at VQS Lod: -11.8399 <= x < -0.3411"> | |
##FILTER=<ID=VQSRTrancheSNP99.90to100.00+,Description="Truth sensitivity tranche level for SNP model at VQS Lod < -24069.3954"> | |
##FILTER=<ID=VQSRTrancheSNP99.90to100.00,Description="Truth sensitivity tranche level for SNP model at VQS Lod: -24069.3954 <= x < -11.8399"> | |
##FORMAT=<ID=AD,Number=.,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed"> | |
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)"> | |
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality"> | |
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | |
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification"> | |
##GATKCommandLine=<ID=ApplyRecalibration,Version=2014.2-3.1.7-7-gb0ce0a5,Date="Fri Jun 19 21:08:58 PDT 2015",Epoch=1434773338278,CommandLineOptions="analysis_type=ApplyRecalibration input_file=[] showFullBamList=false read_buffer_size=null phone_home=NO_ET gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/nfs/env/prod/content/genomes/reference/hs37d5/raw/hs37d5.fa nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false input=[(RodBinding name=input source=/hpc/ops/data/Data/ana/WES/2015-06-17.11-55-04.Stanford_Atheletes_24ACE.ACE2_Exome/per_submitted_sample/01_16_DVDS_v1.4.7.4_ACE/01_16.gatk.raw.vcf)] recal_file=(RodBinding name=recal_file source=/hpc/ops/data/Data/ana/WES/2015-06-17.11-55-04.Stanford_Atheletes_24ACE.ACE2_Exome/per_submitted_sample/01_16_DVDS_v1.4.7.4_ACE/01_16.gatk.VQSR.tmp.snp.recal) tranches_file=/hpc/ops/data/Data/ana/WES/2015-06-17.11-55-04.Stanford_Atheletes_24ACE.ACE2_Exome/per_submitted_sample/01_16_DVDS_v1.4.7.4_ACE/01_16.gatk.VQSR.tmp.snp.tranches out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub ts_filter_level=99.0 lodCutoff=null ignore_filter=null excludeFiltered=false mode=SNP filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false"> | |
##GATKCommandLine=<ID=CombineVariants,Version=2014.2-3.1.7-7-gb0ce0a5,Date="Fri Jun 19 21:11:33 PDT 2015",Epoch=1434773493551,CommandLineOptions="analysis_type=CombineVariants input_file=[] showFullBamList=false read_buffer_size=null phone_home=NO_ET gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/nfs/env/prod/content/genomes/reference/hs37d5/raw/hs37d5.fa nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false variant=[(RodBindingCollection [(RodBinding name=variant source=/hpc/ops/data/Data/ana/WES/2015-06-17.11-55-04.Stanford_Atheletes_24ACE.ACE2_Exome/per_submitted_sample/01_16_DVDS_v1.4.7.4_ACE/01_16.gatk.VQSR.indel.hardfilter.vcf)]), (RodBindingCollection [(RodBinding name=variant2 source=/hpc/ops/data/Data/ana/WES/2015-06-17.11-55-04.Stanford_Atheletes_24ACE.ACE2_Exome/per_submitted_sample/01_16_DVDS_v1.4.7.4_ACE/01_16.gatk.VQSR.snp.hardfilter.vcf)])] out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub genotypemergeoption=UNSORTED filteredrecordsmergetype=KEEP_IF_ANY_UNFILTERED multipleallelesmergetype=BY_TYPE rod_priority_list=null printComplexMerges=false filteredAreUncalled=false minimalVCF=false excludeNonVariants=false setKey=set assumeIdenticalSamples=false minimumN=1 suppressCommandLineHeader=false mergeInfoWithMaxAC=false filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false"> | |
##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed"> | |
##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed"> | |
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> | |
##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities"> | |
##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP Membership"> | |
##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered"> | |
##INFO=<ID=DS,Number=0,Type=Flag,Description="Were any of the samples downsampled?"> | |
##INFO=<ID=Dels,Number=1,Type=Float,Description="Fraction of Reads Containing Spanning Deletions"> | |
##INFO=<ID=END,Number=1,Type=Integer,Description="Stop position of the interval"> | |
##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias"> | |
##INFO=<ID=HaplotypeScore,Number=1,Type=Float,Description="Consistency of the site with at most two segregating haplotypes"> | |
##INFO=<ID=InbreedingCoeff,Number=1,Type=Float,Description="Inbreeding coefficient as estimated from the genotype likelihoods per-sample when compared against the Hardy-Weinberg expectation"> | |
##INFO=<ID=MLEAC,Number=A,Type=Integer,Description="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"> | |
##INFO=<ID=MLEAF,Number=A,Type=Float,Description="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"> | |
##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS Mapping Quality"> | |
##INFO=<ID=MQ0,Number=1,Type=Integer,Description="Total Mapping Quality Zero Reads"> | |
##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities"> | |
##INFO=<ID=NEGATIVE_TRAIN_SITE,Number=0,Type=Flag,Description="This variant was used to build the negative training set of bad variants"> | |
##INFO=<ID=POSITIVE_TRAIN_SITE,Number=0,Type=Flag,Description="This variant was used to build the positive training set of good variants"> | |
##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth"> | |
##INFO=<ID=RPA,Number=.,Type=Integer,Description="Number of times tandem repeat unit is repeated, for each allele (including reference)"> | |
##INFO=<ID=RU,Number=1,Type=String,Description="Tandem repeat unit (bases)"> | |
##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias"> | |
##INFO=<ID=STR,Number=0,Type=Flag,Description="Variant is a short tandem repeat"> | |
##INFO=<ID=VQSLOD,Number=1,Type=Float,Description="Log odds ratio of being a true variant versus being false under the trained gaussian mixture model"> | |
##INFO=<ID=culprit,Number=1,Type=String,Description="The annotation which was the worst performing in the Gaussian mixture model, likely the reason why the variant was filtered out"> | |
##INFO=<ID=set,Number=1,Type=String,Description="Source VCF for the merged record in CombineVariants"> | |
##contig=<ID=1,length=249250621> | |
##contig=<ID=2,length=243199373> | |
##contig=<ID=3,length=198022430> | |
##contig=<ID=4,length=191154276> | |
##contig=<ID=5,length=180915260> | |
##contig=<ID=6,length=171115067> | |
##contig=<ID=7,length=159138663> | |
##contig=<ID=8,length=146364022> | |
##contig=<ID=9,length=141213431> | |
##contig=<ID=10,length=135534747> | |
##contig=<ID=11,length=135006516> | |
##contig=<ID=12,length=133851895> | |
##contig=<ID=13,length=115169878> | |
##contig=<ID=14,length=107349540> | |
##contig=<ID=15,length=102531392> | |
##contig=<ID=16,length=90354753> | |
##contig=<ID=17,length=81195210> | |
##contig=<ID=18,length=78077248> | |
##contig=<ID=19,length=59128983> | |
##contig=<ID=20,length=63025520> | |
##contig=<ID=21,length=48129895> | |
##contig=<ID=22,length=51304566> | |
##contig=<ID=X,length=155270560> | |
##contig=<ID=Y,length=59373566> | |
##contig=<ID=MT,length=16569> | |
##reference=hs37d5.fa | |
##source=SelectVariants | |
##INFO=<ID=PMR,Number=1,Type=Character,Description="Major allele from Personalis Major allele Reference"> | |
##ApplyRecalibration="analysis_type input_file=[] read_buffer_size=null phone_home=STANDARD gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=hs37d5.fa nonDeterministicRandomSeed=false disableRandomization=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 enable_experimental_downsampling=false baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 defaultBaseQualities=-1 validation_strictness=SILENT remove_program_records=false keep_program_records=false unsafe=null num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false logging_level=INFO log_to_file=null help=false input=[(RodBinding name=input source=3_01.gatk.raw.vcf)] recal_file=(RodBinding name=recal_file source=3_01.gatk.VQSR.tmp.snp.recal) tranches_file=3_01.gatk.VQSR.tmp.snp.tranches out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub ts_filter_level=99.0 ignore_filter=null mode=SNP filter_mismatching_base_and_quals=false" | |
##CombineVariants="analysis_type input_file=[] read_buffer_size=null phone_home=STANDARD gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=hs37d5.fa nonDeterministicRandomSeed=false disableRandomization=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 enable_experimental_downsampling=false baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 defaultBaseQualities=-1 validation_strictness=SILENT remove_program_records=false keep_program_records=false unsafe=null num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false logging_level=INFO log_to_file=null help=false variant=[(RodBinding name=variant source=3_01.gatk.VQSR.indel.hardfilter.vcf), (RodBinding name=variant2 source=3_01.gatk.VQSR.snp.hardfilter.vcf)] out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub genotypemergeoption=UNSORTED filteredrecordsmergetype=KEEP_IF_ANY_UNFILTERED multipleallelesmergetype=BY_TYPE rod_priority_list=null printComplexMerges=false filteredAreUncalled=false minimalVCF=false setKey=set assumeIdenticalSamples=false minimumN=1 suppressCommandLineHeader=false mergeInfoWithMaxAC=false filter_mismatching_base_and_quals=false" | |
##SelectVariants="analysis_type input_file=[] read_buffer_size=null phone_home=STANDARD gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=hs37d5.fa nonDeterministicRandomSeed=false disableRandomization=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 enable_experimental_downsampling=false baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 defaultBaseQualities=-1 validation_strictness=SILENT remove_program_records=false keep_program_records=false unsafe=null num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false logging_level=INFO log_to_file=null help=false variant=(RodBinding name=variant source=3_01.chromosome_1.recal.tmp.all.gatk.vcf) discordance=(RodBinding name= source=UNBOUND) concordance=(RodBinding name= source=UNBOUND) out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sample_name=[] sample_expressions=null sample_file=null exclude_sample_name=[] exclude_sample_file=[] select_expressions=[] excludeNonVariants=true excludeFiltered=false regenotype=false restrictAllelesTo=ALL keepOriginalAC=false mendelianViolation=false mendelianViolationQualThreshold=0.0 select_random_fraction=0.0 remove_fraction_genotypes=0.0 selectTypeToInclude=[] keepIDs=null fullyDecode=false forceGenotypesDecode=false justRead=false maxIndelSize=2147483647 ALLOW_NONOVERLAPPING_COMMAND_LINE_SAMPLES=false filter_mismatching_base_and_quals=false" | |
##UnifiedGenotyper="analysis_type input_file=[3_01.chromosome_1.recal.bam] read_buffer_size=null phone_home=STANDARD gatk_key=null tag=NA read_filter=[] intervals=[1.bed] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=hs37d5.fa nonDeterministicRandomSeed=false disableRandomization=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 enable_experimental_downsampling=false baq=CALCULATE_AS_NECESSARY baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 defaultBaseQualities=-1 validation_strictness=SILENT remove_program_records=false keep_program_records=false unsafe=null num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false logging_level=INFO log_to_file=null help=false genotype_likelihoods_model=BOTH pcr_error_rate=1.0E-4 computeSLOD=false annotateNDA=false pair_hmm_implementation=ORIGINAL min_base_quality_score=17 max_deletion_fraction=0.05 min_indel_count_for_genotyping=5 min_indel_fraction_per_sample=0.25 indel_heterozygosity=1.25E-4 indelGapContinuationPenalty=10 indelGapOpenPenalty=45 indelHaplotypeSize=80 indelDebug=false ignoreSNPAlleles=false allReadsSP=false ignoreLaneInfo=false reference_sample_calls=(RodBinding name= source=UNBOUND) reference_sample_name=null sample_ploidy=2 min_quality_score=1 max_quality_score=40 site_quality_prior=20 min_power_threshold_for_calling=0.95 min_reference_depth=100 exclude_filtered_reference_sites=false heterozygosity=0.001 genotyping_mode=DISCOVERY output_mode=EMIT_VARIANTS_ONLY standard_min_confidence_threshold_for_calling=50.0 standard_min_confidence_threshold_for_emitting=10.0 alleles=(RodBinding name= source=UNBOUND) max_alternate_alleles=6 p_nonref_model=EXACT_INDEPENDENT contamination_fraction_to_filter=0.05 logRemovedReadsFromContaminationFiltering=null exactcallslog=null dbsnp=(RodBinding name=dbsnp source=dbsnp_137.b37.reformatted.vcf) comp=[] out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub debug_file=null metrics_file=null annotation=[] excludeAnnotation=[] filter_mismatching_base_and_quals=false" | |
##VariantFiltration="analysis_type input_file=[] read_buffer_size=null phone_home=STANDARD gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=hs37d5.fa nonDeterministicRandomSeed=false disableRandomization=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 enable_experimental_downsampling=false baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 defaultBaseQualities=-1 validation_strictness=SILENT remove_program_records=false keep_program_records=false unsafe=null num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false logging_level=INFO log_to_file=null help=false variant=(RodBinding name=variant source=3_01.gatk.VQSR.indel.vcf) mask=(RodBinding name= source=UNBOUND) out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub filterExpression=[QD < 2.0 || ReadPosRankSum < -20.0 || InbreedingCoeff < -0.8 || FS > 200.0] filterName=[INDEL_SPECIFIC_FILTERS] genotypeFilterExpression=[] genotypeFilterName=[] clusterSize=3 clusterWindowSize=0 maskExtension=0 maskName=Mask missingValuesInExpressionsShouldEvaluateAsFailing=false invalidatePreviousFilters=false filter_mismatching_base_and_quals=false" | |
##bcftools_mergeVersion=1.3-25-g9f5ee21-dirty+htslib-1.3-29-g091c89c | |
##bcftools_mergeCommand=merge -l vcf_links.txt -O z -m none | |
##bcftools_normVersion=1.3-25-g9f5ee21-dirty+htslib-1.3-29-g091c89c | |
##bcftools_normCommand=norm -O z -f /share/PI/euan/apps/bcbio/genomes/Hsapiens/GRCh37/seq/GRCh37.fa -m - tmp.vcf.gz | |
##bcftools_concatVersion=1.3+htslib-1.3 | |
##bcftools_concatCommand=concat -O z -D -a elite_n269.vcf.gz | |
##bcftools_normVersion=1.3+htslib-1.3 | |
##bcftools_normCommand=norm -O z -d both elite_n269.vcf.gz | |
##bcftools_viewVersion=1.3+htslib-1.3 | |
##bcftools_viewCommand=view -r 1:876499 -O z tmp.vcf.gz | |
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 01_16 01_33 01_34 01_37 01_38 01_41 01_43 01_44 01_50 01_51 01_53 01_59 01_60 01_61 01_62 02_14 02_15 02_17 02_19 02_21 02_23 02_27 02_34 02_35 02_36 02_39 03_38 03_54 03_64 03_65 03_75 03_76 03_77 04_240 04_266 04_267 04_296 07_06__KN049_ 07_07__KN075_ 07_13__KN500_ 07_14__KN501_ 07_16 07_17__KN504_ 07_32__sp-23_ 07_36__sp-45_ 07_37__sp-46_ 07_38__sp-77_ 07_39__sp-79_ 07_42__sp-84_ 1_02 1_03 1_05 1_06 1_07 1_08 1_09 1_10 1_11 1_12 1_14 1_15 1_17 1_18 1_19 1_25 1_26 1_27 1_28 1_29 1_30 1_32 2_01 2_02 2_03 2_04 2_06 2_29 2_30 3_01 3_02 3_03 3_04 3_05 3_06 3_07 3_08 3_09 3_11 3_12 3_13 3_14 3_15 3_16 3_17 3_18 3_19 3_20 3_21 3_22 3_23 3_24 3_25 3_26 3_27 3_28 3_29 3_30_102A 3_31 3_32 3_33 3_35 3_36 3_37 3_39 3_41 3_42 3_43 3_44 3_45 3_47 3_49 3_51 3_55 3_56 3_57 3_58 3_60 3_61 3_63 3_66_101a 3_67_105a 3_68_10_03 3_71 3_72 3_73 4_04 4_06 4_09 4_106 4_107 4_109 4_110 4_112 4_119 4_122 4_123 4_124 4_125 4_126 4_127 4_13 4_145 4_147 4_14 4_150 4_153 4_157 4_164 4_165 4_16 4_171 4_172 4_174 4_178 4_185 4_18 4_192 4_194 4_200 4_204 4_207 4_209 4_20 4_216 4_217 4_21 4_220 4_229 4_231 4_232 4_233 4_241 4_245 4_24 4_26 4_27 4_281 4_286 4_29 4_300 4_313 4_314 4_318 4_320 4_325 4_32 4_330 4_340 4_345 4_354 4_42 4_44 4_47 4_48 4_59 4_65 4_68 4_73 4_74 4_76 4_77 4_78 4_79 4_81 4_82 4_83 4_91 4_92 4_95 4_97 4_99 6_05 7_18 7_20 7_21 7_23 7_24 7_25 7_26 7_27 7_33 7_40 7_47 7_48 7_49 7_50 7_51 7_52 7_54 s01_63 s01_64 s01_67 s01_68 s01_71 s01_72 s01_73 s01_75 s01_76 s03_78 s03_92 s03_93 s05_04_Sp_M4 s05_05_Sp_M5 s05_06_Sp_M6 s05_07_Sp_M7 s05_08_Sp_M8 s05_09 s05_101_Sp_W1 s05_102_Sp_W2 s05_103_Sp_W3 s05_104_Sp_W4 s05_105_Sp_W5 s05_10 s05_64_XXX s09_02 s09_03 s09_07 s09_08 | |
1 876499 rs4372192 A G 456.77 LowQual DB;Dels=0;FS=0;HaplotypeScore=0;MQ=60;MQ0=0;QD=16.66;VQSLOD=12.82;culprit=QD;set=variant2;PMR=G;BaseQRankSum=0.727;MQRankSum=0.727;ReadPosRankSum=-0.727;DP=1399;AF=0.5;MLEAC=1;MLEAF=0.5;AN=470;AC=450 GT:AD:DP:GQ:PL 1/1:0,5:5:9:111,9,0 1/1:0,3:3:6:82,6,0 1/1:0,6:6:12:167,12,0 1/1:0,4:4:6:84,6,0 1/1:0,3:3:9:117,9,0 1/1:0,1:1:3:40,3,0 1/1:0,4:4:9:115,9,0 1/1:0,1:1:3:39,3,0 1/1:0,4:4:9:117,9,0 1/1:0,1:1:3:40,3,0 1/1:0,13:13:21:289,21,0 1/1:0,2:2:3:45,3,0 1/1:0,4:4:9:118,9,0 1/1:0,9:9:18:246,18,0 1/1:0,6:6:15:192,15,0 1/1:0,3:3:9:116,9,0 1/1:0,4:4:12:145,12,0 ./.:.:.:.:. 1/1:0,4:4:9:116,9,0 0/1:1,3:4:29:64,0,29 ./.:.:.:.:. 1/1:0,2:2:3:38,3,0 ./.:.:.:.:. 0/1:3,5:8:65:145,0,65 0/1:1,3:4:26:76,0,26 ./.:.:.:.:. 1/1:0,3:3:6:84,6,0 ./.:.:.:.:. 1/1:0,3:3:6:79,6,0 1/1:0,7:7:12:174,12,0 1/1:0,3:3:3:39,3,0 1/1:0,1:1:3:39,3,0 1/1:0,4:4:9:119,9,0 1/1:0,4:4:9:122,9,0 1/1:0,8:8:18:244,18,0 ./.:.:.:.:. 1/1:0,4:4:9:105,9,0 0/1:1,2:3:26:39,0,26 0/1:1,6:7:27:115,0,27 1/1:0,1:1:3:37,3,0 1/1:0,4:4:9:121,9,0 1/1:0,5:5:9:128,9,0 1/1:0,1:1:3:38,3,0 1/1:0,7:7:12:163,12,0 ./.:.:.:.:. 1/1:0,5:5:12:161,12,0 1/1:0,3:3:9:116,9,0 ./.:.:.:.:. 1/1:0,1:1:3:39,3,0 ./.:.:.:.:. 1/1:0,2:2:3:45,3,0 1/1:0,4:4:9:119,9,0 1/1:0,6:6:12:164,12,0 0/1:2,3:5:36:73,0,36 0/1:2,5:7:33:115,0,33 1/1:0,3:3:6:83,6,0 1/1:0,3:3:3:38,3,0 1/1:0,2:2:3:45,3,0 1/1:0,3:3:9:112,9,0 1/1:0,2:2:3:45,3,0 ./.:.:.:.:. 1/1:0,3:3:6:83,6,0 1/1:0,6:6:6:83,6,0 ./.:.:.:.:. 1/1:0,5:5:12:158,12,0 ./.:.:.:.:. 1/1:0,2:2:6:67,6,0 1/1:0,2:2:6:77,6,0 ./.:.:.:.:. ./.:.:.:.:. 1/1:0,5:5:9:120,9,0 1/1:0,4:4:9:112,9,0 ./.:.:.:.:. 1/1:0,7:7:15:198,15,0 1/1:0,9:9:15:196,15,0 1/1:0,8:8:15:192,15,0 1/1:0,3:3:9:113,9,0 ./.:.:.:.:. ./.:.:.:.:. ./.:.:.:.:. 1/1:0,6:6:18:232,18,0 1/1:0,6:6:12:158,12,0 1/1:0,6:6:15:188,15,0 1/1:0,4:4:9:116,9,0 1/1:0,11:11:27:346,27,0 1/1:0,8:8:12:154,12,0 1/1:0,6:6:15:180,15,0 1/1:0,10:10:27:334,27,0 1/1:0,9:9:24:318,24,0 1/1:0,5:5:12:153,12,0 ./.:.:.:.:. 1/1:0,8:8:18:227,18,0 1/1:0,6:6:12:160,12,0 ./.:.:.:.:. ./.:.:.:.:. 1/1:0,4:4:6:82,6,0 0/1:2,2:4:39:39,0,39 1/1:0,5:5:12:163,12,0 1/1:0,6:6:12:160,12,0 1/1:0,4:4:6:83,6,0 1/1:0,4:4:9:120,9,0 1/1:0,7:7:15:196,15,0 1/1:0,3:3:9:116,9,0 1/1:0,10:10:21:273,21,0 1/1:0,4:4:6:78,6,0 1/1:0,11:11:27:333,27,0 1/1:0,9:9:24:300,24,0 1/1:0,1:1:3:38,3,0 1/1:0,7:7:15:202,15,0 1/1:0,2:2:3:39,3,0 1/1:0,10:10:24:310,24,0 ./.:.:.:.:. 1/1:0,9:9:24:305,24,0 1/1:0,12:12:30:383,30,0 1/1:0,8:8:15:187,15,0 1/1:0,12:12:33:429,33,0 1/1:0,9:9:24:312,24,0 ./.:.:.:.:. 1/1:0,5:5:12:163,12,0 1/1:0,4:4:9:112,9,0 1/1:0,12:12:27:335,27,0 1/1:0,4:4:6:80,6,0 1/1:0,8:8:24:301,24,0 1/1:0,3:3:6:84,6,0 1/1:0,10:10:27:335,27,0 1/1:0,2:2:6:70,6,0 ./.:.:.:.:. 1/1:0,4:4:6:82,6,0 1/1:0,6:6:15:199,15,0 1/1:0,5:5:9:123,9,0 1/1:0,3:3:3:45,3,0 1/1:0,2:2:3:45,3,0 1/1:0,2:2:6:73,6,0 1/1:0,4:4:9:118,9,0 1/1:0,6:6:12:146,12,0 1/1:0,8:8:18:234,18,0 1/1:0,2:2:6:76,6,0 1/1:0,6:6:12:150,12,0 1/1:0,6:6:15:204,15,0 1/1:0,15:15:27:367,27,0 1/1:0,7:7:15:201,15,0 1/1:0,11:11:24:315,24,0 1/1:0,10:10:24:315,24,0 1/1:0,1:1:3:40,3,0 1/1:0,14:14:30:395,30,0 1/1:0,6:6:15:202,15,0 1/1:0,13:13:33:415,33,0 0/1:6,5:11:99:134,0,155 1/1:0,15:15:30:401,30,0 1/1:0,9:9:18:251,18,0 1/1:0,3:3:9:112,9,0 1/1:0,9:9:24:306,24,0 1/1:0,9:9:21:257,21,0 1/1:0,6:6:15:195,15,0 1/1:0,6:6:12:165,12,0 1/1:0,9:9:18:238,18,0 1/1:0,17:17:33:429,33,0 1/1:0,18:18:39:484,39,0 1/1:0,12:12:21:252,21,0 1/1:0,8:8:15:196,15,0 1/1:0,10:10:18:242,18,0 0/1:2,5:7:54:133,0,54 1/1:0,8:8:21:273,21,0 1/1:0,4:4:12:152,12,0 1/1:0,17:17:36:485,36,0 1/1:0,6:6:12:154,12,0 0/1:1,10:11:18:214,0,18 1/1:0,5:5:12:161,12,0 1/1:0,10:10:21:259,21,0 1/1:0,9:9:21:263,21,0 1/1:0,10:10:21:269,21,0 1/1:0,3:3:6:79,6,0 1/1:0,5:5:12:148,12,0 1/1:0,4:4:9:107,9,0 1/1:0,11:11:27:351,27,0 1/1:0,5:5:6:84,6,0 1/1:0,8:8:21:261,21,0 0/1:4,5:9:71:141,0,71 1/1:0,8:8:18:231,18,0 0/1:7,10:17:99:259,0,154 1/1:0,5:5:15:195,15,0 1/1:0,1:1:3:39,3,0 1/1:0,16:16:33:439,33,0 1/1:0,3:3:6:83,6,0 1/1:0,4:4:9:123,9,0 1/1:0,3:3:6:72,6,0 1/1:0,3:3:6:70,6,0 1/1:0,15:15:30:390,30,0 1/1:0,4:4:9:110,9,0 1/1:0,5:5:12:154,12,0 1/1:0,3:3:6:81,6,0 1/1:0,3:3:6:81,6,0 1/1:0,5:5:15:183,15,0 1/1:0,5:5:9:122,9,0 ./.:.:.:.:. 0/1:4,5:9:60:108,0,60 ./.:.:.:.:. 1/1:0,1:1:3:38,3,0 1/1:0,5:5:12:157,12,0 1/1:0,10:10:21:271,21,0 1/1:0,5:5:12:160,12,0 1/1:0,9:9:18:231,18,0 ./.:.:.:.:. 1/1:0,3:3:6:84,6,0 1/1:0,2:2:3:38,3,0 0/1:5,6:11:99:203,0,114 ./.:.:.:.:. 1/1:0,5:5:12:156,12,0 1/1:0,1:1:3:39,3,0 ./.:.:.:.:. 1/1:0,3:3:6:85,6,0 1/1:0,5:5:9:122,9,0 0/1:1,3:4:28:67,0,28 1/1:0,4:4:9:110,9,0 1/1:0,5:5:6:83,6,0 1/1:0,10:10:21:277,21,0 1/1:0,5:5:12:163,12,0 1/1:0,5:5:12:160,12,0 1/1:0,6:6:9:123,9,0 1/1:0,3:3:6:79,6,0 1/1:0,6:6:12:167,12,0 0/1:3,5:8:68:105,0,68 1/1:0,2:2:6:72,6,0 0/1:4,5:9:99:130,0,99 1/1:0,3:3:9:103,9,0 1/1:0,2:2:3:40,3,0 0/1:2,4:6:53:140,0,53 1/1:0,3:3:6:83,6,0 1/1:0,6:6:12:168,12,0 1/1:0,3:3:9:106,9,0 1/1:0,5:5:12:163,12,0 1/1:0,1:1:3:40,3,0 ./.:.:.:.:. 1/1:0,3:3:6:83,6,0 1/1:0,4:4:6:79,6,0 1/1:0,11:11:21:283,21,0 ./.:.:.:.:. 1/1:0,6:6:9:130,9,0 1/1:0,3:3:9:115,9,0 1/1:0,2:2:3:45,3,0 1/1:0,7:7:12:173,12,0 1/1:0,9:9:18:223,18,0 1/1:0,3:3:6:83,6,0 1/1:0,6:6:12:165,12,0 1/1:0,8:8:18:231,18,0 1/1:0,2:2:3:39,3,0 1/1:0,11:11:27:315,27,0 1/1:0,5:5:9:106,9,0 1/1:0,10:10:18:239,18,0 1/1:0,3:3:6:74,6,0 ./.:.:.:.:. 1/1:0,4:4:9:121,9,0 1/1:0,10:10:21:272,21,0 1/1:0,6:6:12:153,12,0 1/1:0,8:8:15:187,15,0 ./.:.:.:.:. 1/1:0,4:4:12:137,12,0 1/1:0,7:7:12:142,12,0 1/1:0,5:5:12:155,12,0 1/1:0,3:3:9:117,9,0 1/1:0,8:8:12:171,12,0 1/1:0,12:12:21:268,21,0 1/1:0,5:5:12:157,12,0 1/1:0,5:5:15:192,15,0 1/1:0,9:9:21:273,21,0 1/1:0,8:8:18:237,18,0 1/1:0,3:3:9:115,9,0 0/1:1,4:5:28:74,0,28 | |
1 876499 . A . 50 . PMR=G;AN=2 GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 0/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. | |
1 876499 . A . 50 . PMR=G;AN=2 GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 0/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. | |
1 876499 . A . 50 . PMR=G;AN=2 GT ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. 0/0 ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. ./. |
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