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November 29, 2016 23:56
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##fileformat=VCFv4.2 | |
##FILTER=<ID=PASS,Description="All filters passed"> | |
##ALT=<ID=NON_REF,Description="Represents any possible alternative allele at this location"> | |
##FILTER=<ID=LowQual,Description="Low quality"> | |
##FORMAT=<ID=AD,Number=R,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=MIN_DP,Number=1,Type=Integer,Description="Minimum DP observed within the GVCF block"> | |
##FORMAT=<ID=PGT,Number=1,Type=String,Description="Physical phasing haplotype information, describing how the alternate alleles are phased in relation to one another"> | |
##FORMAT=<ID=PID,Number=1,Type=String,Description="Physical phasing ID information, where each unique ID within a given sample (but not across samples) connects records within a phasing group"> | |
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification"> | |
##FORMAT=<ID=RGQ,Number=1,Type=Integer,Description="Unconditional reference genotype confidence, encoded as a phred quality -10*log10 p(genotype call is wrong)"> | |
##FORMAT=<ID=SB,Number=4,Type=Integer,Description="Per-sample component statistics which comprise the Fisher's Exact Test to detect strand bias."> | |
##GATKCommandLine.GenotypeGVCFs=<ID=GenotypeGVCFs,Version=3.6-0-g89b7209,Date="Fri Aug 26 14:58:54 PDT 2016",Epoch=1472248734319,CommandLineOptions="analysis_type=GenotypeGVCFs input_file=[] showFullBamList=false read_buffer_size=null read_filter=[] disable_read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/home/lsturm/apps/bcbio/genomes/Hsapiens/GRCh37/seq/GRCh37.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 refactor_NDN_cigar_string=false fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 static_quantized_quals=null round_down_quantized=false 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 no_cmdline_in_header=false sites_only=false never_trim_vcf_format_field=false bcf=false bam_compression=null simplifyBAM=false disable_bam_indexing=false generate_md5=false num_threads=8 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 reference_window_stop=0 phone_home= gatk_key=null tag=NA logging_level=INFO log_to_file=null help=false version=false variant=[(RodBindingCollection [(RodBinding name=variant 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source=/home/lsturm/projects1/elite/bcbio/projects/project_n268_gatk/09_08.g.vcf)])] out=/scratch/PI/euan/projects/elite/bcbio/projects/project_n267_gatk_joint/elite_n267_joint.vcf includeNonVariantSites=false uniquifySamples=false annotateNDA=false heterozygosity=0.001 indel_heterozygosity=1.25E-4 standard_min_confidence_threshold_for_calling=30.0 standard_min_confidence_threshold_for_emitting=30.0 max_alternate_alleles=6 max_num_PL_values=100 input_prior=[] sample_ploidy=2 annotation=[] group=[StandardAnnotation] dbsnp=(RodBinding name= source=UNBOUND) filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false"> | |
##GATKCommandLine.HaplotypeCaller=<ID=HaplotypeCaller,Version=3.6-0-g89b7209,Date="Wed Aug 24 01:12:39 PDT 2016",Epoch=1472026359907,CommandLineOptions="analysis_type=HaplotypeCaller input_file=[/home/lsturm/projects1/elite/genotype/bams/04_266/04_266.bam] showFullBamList=false read_buffer_size=null read_filter=[] disable_read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/home/lsturm/apps/bcbio/genomes/Hsapiens/GRCh37/seq/GRCh37.fa nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=500 baq=OFF baqGapOpenPenalty=40.0 refactor_NDN_cigar_string=false fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 static_quantized_quals=null round_down_quantized=false 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 no_cmdline_in_header=false sites_only=false never_trim_vcf_format_field=false bcf=false bam_compression=null simplifyBAM=false disable_bam_indexing=false generate_md5=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 reference_window_stop=0 phone_home= gatk_key=null tag=NA logging_level=INFO log_to_file=null help=false version=false likelihoodCalculationEngine=PairHMM heterogeneousKmerSizeResolution=COMBO_MIN dbsnp=(RodBinding name= source=UNBOUND) dontTrimActiveRegions=false maxDiscARExtension=25 maxGGAARExtension=300 paddingAroundIndels=150 paddingAroundSNPs=20 comp=[] annotation=[StrandBiasBySample] excludeAnnotation=[ChromosomeCounts, FisherStrand, StrandOddsRatio, QualByDepth] group=[Standard, AS_Standard] debug=false useFilteredReadsForAnnotations=false emitRefConfidence=GVCF bamOutput=null bamWriterType=CALLED_HAPLOTYPES emitDroppedReads=false disableOptimizations=false annotateNDA=false heterozygosity=0.001 indel_heterozygosity=1.25E-4 standard_min_confidence_threshold_for_calling=-0.0 standard_min_confidence_threshold_for_emitting=-0.0 max_alternate_alleles=6 max_num_PL_values=100 input_prior=[] sample_ploidy=2 genotyping_mode=DISCOVERY alleles=(RodBinding name= source=UNBOUND) contamination_fraction_to_filter=0.0 contamination_fraction_per_sample_file=null p_nonref_model=null exactcallslog=null output_mode=EMIT_VARIANTS_ONLY allSitePLs=true gcpHMM=10 pair_hmm_implementation=VECTOR_LOGLESS_CACHING pair_hmm_sub_implementation=ENABLE_ALL always_load_vector_logless_PairHMM_lib=false phredScaledGlobalReadMismappingRate=45 noFpga=false sample_name=null kmerSize=[10, 25] dontIncreaseKmerSizesForCycles=false allowNonUniqueKmersInRef=false numPruningSamples=1 recoverDanglingHeads=false doNotRecoverDanglingBranches=false minDanglingBranchLength=4 consensus=false maxNumHaplotypesInPopulation=128 errorCorrectKmers=false minPruning=2 debugGraphTransformations=false allowCyclesInKmerGraphToGeneratePaths=false graphOutput=null kmerLengthForReadErrorCorrection=25 minObservationsForKmerToBeSolid=20 GVCFGQBands=[1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60, 70, 80, 90, 99] indelSizeToEliminateInRefModel=10 min_base_quality_score=10 includeUmappedReads=false useAllelesTrigger=false doNotRunPhysicalPhasing=false keepRG=null justDetermineActiveRegions=false dontGenotype=false dontUseSoftClippedBases=false captureAssemblyFailureBAM=false errorCorrectReads=false pcr_indel_model=CONSERVATIVE maxReadsInRegionPerSample=10000 minReadsPerAlignmentStart=10 mergeVariantsViaLD=false activityProfileOut=null activeRegionOut=null activeRegionIn=null activeRegionExtension=null forceActive=false activeRegionMaxSize=null bandPassSigma=null maxProbPropagationDistance=50 activeProbabilityThreshold=0.002 min_mapping_quality_score=20 filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false"> | |
##GVCFBlock0-1=minGQ=0(inclusive),maxGQ=1(exclusive) | |
##GVCFBlock1-2=minGQ=1(inclusive),maxGQ=2(exclusive) | |
##GVCFBlock10-11=minGQ=10(inclusive),maxGQ=11(exclusive) | |
##GVCFBlock11-12=minGQ=11(inclusive),maxGQ=12(exclusive) | |
##GVCFBlock12-13=minGQ=12(inclusive),maxGQ=13(exclusive) | |
##GVCFBlock13-14=minGQ=13(inclusive),maxGQ=14(exclusive) | |
##GVCFBlock14-15=minGQ=14(inclusive),maxGQ=15(exclusive) | |
##GVCFBlock15-16=minGQ=15(inclusive),maxGQ=16(exclusive) | |
##GVCFBlock16-17=minGQ=16(inclusive),maxGQ=17(exclusive) | |
##GVCFBlock17-18=minGQ=17(inclusive),maxGQ=18(exclusive) | |
##GVCFBlock18-19=minGQ=18(inclusive),maxGQ=19(exclusive) | |
##GVCFBlock19-20=minGQ=19(inclusive),maxGQ=20(exclusive) | |
##GVCFBlock2-3=minGQ=2(inclusive),maxGQ=3(exclusive) | |
##GVCFBlock20-21=minGQ=20(inclusive),maxGQ=21(exclusive) | |
##GVCFBlock21-22=minGQ=21(inclusive),maxGQ=22(exclusive) | |
##GVCFBlock22-23=minGQ=22(inclusive),maxGQ=23(exclusive) | |
##GVCFBlock23-24=minGQ=23(inclusive),maxGQ=24(exclusive) | |
##GVCFBlock24-25=minGQ=24(inclusive),maxGQ=25(exclusive) | |
##GVCFBlock25-26=minGQ=25(inclusive),maxGQ=26(exclusive) | |
##GVCFBlock26-27=minGQ=26(inclusive),maxGQ=27(exclusive) | |
##GVCFBlock27-28=minGQ=27(inclusive),maxGQ=28(exclusive) | |
##GVCFBlock28-29=minGQ=28(inclusive),maxGQ=29(exclusive) | |
##GVCFBlock29-30=minGQ=29(inclusive),maxGQ=30(exclusive) | |
##GVCFBlock3-4=minGQ=3(inclusive),maxGQ=4(exclusive) | |
##GVCFBlock30-31=minGQ=30(inclusive),maxGQ=31(exclusive) | |
##GVCFBlock31-32=minGQ=31(inclusive),maxGQ=32(exclusive) | |
##GVCFBlock32-33=minGQ=32(inclusive),maxGQ=33(exclusive) | |
##GVCFBlock33-34=minGQ=33(inclusive),maxGQ=34(exclusive) | |
##GVCFBlock34-35=minGQ=34(inclusive),maxGQ=35(exclusive) | |
##GVCFBlock35-36=minGQ=35(inclusive),maxGQ=36(exclusive) | |
##GVCFBlock36-37=minGQ=36(inclusive),maxGQ=37(exclusive) | |
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##GVCFBlock4-5=minGQ=4(inclusive),maxGQ=5(exclusive) | |
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##GVCFBlock41-42=minGQ=41(inclusive),maxGQ=42(exclusive) | |
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##GVCFBlock43-44=minGQ=43(inclusive),maxGQ=44(exclusive) | |
##GVCFBlock44-45=minGQ=44(inclusive),maxGQ=45(exclusive) | |
##GVCFBlock45-46=minGQ=45(inclusive),maxGQ=46(exclusive) | |
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##GVCFBlock49-50=minGQ=49(inclusive),maxGQ=50(exclusive) | |
##GVCFBlock5-6=minGQ=5(inclusive),maxGQ=6(exclusive) | |
##GVCFBlock50-51=minGQ=50(inclusive),maxGQ=51(exclusive) | |
##GVCFBlock51-52=minGQ=51(inclusive),maxGQ=52(exclusive) | |
##GVCFBlock52-53=minGQ=52(inclusive),maxGQ=53(exclusive) | |
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##GVCFBlock59-60=minGQ=59(inclusive),maxGQ=60(exclusive) | |
##GVCFBlock6-7=minGQ=6(inclusive),maxGQ=7(exclusive) | |
##GVCFBlock60-70=minGQ=60(inclusive),maxGQ=70(exclusive) | |
##GVCFBlock7-8=minGQ=7(inclusive),maxGQ=8(exclusive) | |
##GVCFBlock70-80=minGQ=70(inclusive),maxGQ=80(exclusive) | |
##GVCFBlock8-9=minGQ=8(inclusive),maxGQ=9(exclusive) | |
##GVCFBlock80-90=minGQ=80(inclusive),maxGQ=90(exclusive) | |
##GVCFBlock9-10=minGQ=9(inclusive),maxGQ=10(exclusive) | |
##GVCFBlock90-99=minGQ=90(inclusive),maxGQ=99(exclusive) | |
##GVCFBlock99-2147483647=minGQ=99(inclusive),maxGQ=2147483647(exclusive) | |
##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=AS_InbreedingCoeff,Number=A,Type=Float,Description="allele specific heterozygosity as estimated from the genotype likelihoods per-sample when compared against the Hardy-Weinberg expectation; relate to inbreeding coefficient"> | |
##INFO=<ID=AS_QD,Number=1,Type=Float,Description="Allele-specific Variant Confidence/Quality by Depth"> | |
##INFO=<ID=AS_RAW_BaseQRankSum,Number=1,Type=String,Description="raw data for allele specific rank sum test of base qualities"> | |
##INFO=<ID=AS_RAW_MQ,Number=A,Type=Float,Description="Allele-specfic raw data for RMS Mapping Quality"> | |
##INFO=<ID=AS_RAW_MQRankSum,Number=1,Type=String,Description="Allele-specific raw data for Mapping Quality Rank Sum"> | |
##INFO=<ID=AS_RAW_ReadPosRankSum,Number=1,Type=String,Description="allele specific raw data for rank sum test of read position bias"> | |
##INFO=<ID=AS_SB_TABLE,Number=1,Type=String,Description="Allele-specific forward/reverse read counts for strand bias tests"> | |
##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities"> | |
##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=END,Number=1,Type=Integer,Description="Stop position of the interval"> | |
##INFO=<ID=ExcessHet,Number=1,Type=Float,Description="Phred-scaled p-value for exact test of excess heterozygosity"> | |
##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=MQRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities"> | |
##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth"> | |
##INFO=<ID=RAW_MQ,Number=1,Type=Float,Description="Raw data for RMS Mapping Quality"> | |
##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias"> | |
##INFO=<ID=SOR,Number=1,Type=Float,Description="Symmetric Odds Ratio of 2x2 contingency table to detect strand bias"> | |
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##reference=file:///home/lsturm/apps/bcbio/genomes/Hsapiens/GRCh37/seq/GRCh37.fa | |
##bcftools_viewVersion=1.3+htslib-1.3 | |
##bcftools_viewCommand=view -h bcbio/projects/project_n267_gatk_joint/elite_n267_joint.vcf | |
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 01_02 01_03 01_05 01_06 01_07 01_08 01_09 01_10 01_11 01_12 01_14 01_15 01_16 01_17 01_18 01_19 01_25 01_26 01_27 01_28 01_29 01_30 01_32 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 01_63 01_64 01_67 01_68 01_71 01_72 01_73 01_75 01_76 02_01 02_02 02_03 02_04 02_06 02_14 02_15 02_17 02_19 02_21 02_23 02_27 02_29 02_30 02_34 02_35 02_36 02_39 03_01 03_02 03_03 03_04 03_05 03_06 03_07 03_08 03_09 03_11 03_12 03_13 03_14 03_15 03_16 03_17 03_18 03_19 03_20 03_21 03_22 03_23 03_24 03_25 03_26 03_27 03_28 03_29 03_30_102A 03_31 03_32 03_33 03_35 03_36 03_37 03_38 03_39 03_41 03_42 03_43 03_44 03_45 03_47 03_49 03_51 03_54 03_55 03_56 03_57 03_58 03_60 03_61 03_63 03_64 03_65 03_66_101a 03_67_105a 03_68_10_03 03_71 03_72 03_73 03_75 03_76 03_77 03_78 03_92 03_93 04_04 04_06 04_09 04_106 04_107 04_109 04_110 04_119 04_122 04_123 04_124 04_125 04_126 04_127 04_13 04_14 04_145 04_147 04_150 04_153 04_157 04_16 04_164 04_165 04_171 04_172 04_174 04_178 04_18 04_185 04_192 04_194 04_20 04_200 04_204 04_207 04_209 04_21 04_216 04_217 04_220 04_229 04_231 04_232 04_233 04_24 04_240 04_241 04_245 04_26 04_266 04_267 04_27 04_281 04_286 04_29 04_296 04_300 04_313 04_314 04_318 04_32 04_320 04_325 04_330 04_340 04_345 04_354 04_42 04_44 04_47 04_48 04_59 04_65 04_68 04_73 04_74 04_76 04_77 04_78 04_79 04_81 04_82 04_83 04_91 04_92 04_95 04_97 04_99 05_04 05_05 05_06 05_07 05_08 05_09 05_10 05_101 05_102 05_103 05_104 05_105 05_64 06_05 07_06 07_07 07_13 07_14 07_16 07_17 07_18 07_20 07_21 07_23 07_24 07_25 07_26 07_27 07_32 07_33 07_36 07_37 07_38 07_39 07_40 07_42 07_47 07_48 07_49 07_50 07_51 07_52 07_54 09_02 09_03 09_07 09_08 |
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