bio-vcf 0.8.1 → 0.9.5
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- checksums.yaml +5 -5
- data/.travis.yml +1 -11
- data/Gemfile +2 -8
- data/LICENSE.txt +1 -1
- data/README.md +467 -129
- data/RELEASE_NOTES.md +27 -0
- data/RELEASE_NOTES.md~ +11 -0
- data/Rakefile +9 -42
- data/TAGS +115 -0
- data/VERSION +1 -1
- data/bin/bio-vcf +156 -108
- data/bio-vcf.gemspec +13 -75
- data/features/cli.feature +22 -4
- data/features/diff_count.feature +0 -1
- data/features/filter.feature +12 -0
- data/features/multisample.feature +12 -0
- data/features/somaticsniper.feature +2 -0
- data/features/step_definitions/cli-feature.rb +15 -6
- data/features/step_definitions/diff_count.rb +1 -1
- data/features/step_definitions/multisample.rb +19 -0
- data/features/step_definitions/somaticsniper.rb +9 -1
- data/features/step_definitions/vcf_header.rb +48 -0
- data/features/support/env.rb +1 -11
- data/features/vcf_header.feature +35 -0
- data/lib/bio-vcf.rb +1 -0
- data/lib/bio-vcf/pcows.rb +303 -0
- data/lib/bio-vcf/vcffile.rb +46 -0
- data/lib/bio-vcf/vcfgenotypefield.rb +19 -19
- data/lib/bio-vcf/vcfheader.rb +137 -5
- data/lib/bio-vcf/vcfheader_line.rb +778 -0
- data/lib/bio-vcf/vcfrecord.rb +56 -18
- data/lib/bio-vcf/vcfsample.rb +26 -2
- data/lib/regressiontest.rb +11 -0
- data/lib/regressiontest/cli_exec.rb +101 -0
- data/ragel/gen_vcfheaderline_parser.rl +165 -0
- data/ragel/generate.sh +8 -0
- data/template/vcf2json.erb +16 -16
- data/template/vcf2json_full_header.erb +22 -0
- data/template/vcf2json_use_meta.erb +41 -0
- data/test/data/input/empty.vcf +2 -0
- data/test/data/input/gatk_exome.vcf +237 -0
- data/test/data/input/gatk_wgs.vcf +1000 -0
- data/test/data/input/test.bed +632 -0
- data/test/data/regression/empty-stderr.new +12 -0
- data/test/data/regression/empty.new +2 -0
- data/test/data/regression/empty.ref +2 -0
- data/test/data/regression/eval_once-stderr.new +2 -0
- data/test/data/regression/eval_once.new +1 -0
- data/test/data/regression/eval_once.ref +1 -0
- data/test/data/regression/eval_r.info.dp-stderr.new +10 -0
- data/test/data/regression/eval_r.info.dp.new +150 -0
- data/test/data/regression/ifilter_s.dp-stderr.new +34 -0
- data/test/data/regression/ifilter_s.dp.new +31 -0
- data/test/data/regression/pass1-stderr.new +10 -0
- data/test/data/regression/pass1.new +88 -0
- data/test/data/regression/pass1.ref +88 -0
- data/test/data/regression/r.info.dp-stderr.new +4 -0
- data/test/data/regression/r.info.dp.new +114 -0
- data/test/data/regression/rewrite.info.sample-stderr.new +10 -0
- data/test/data/regression/rewrite.info.sample.new +150 -0
- data/test/data/regression/s.dp-stderr.new +18 -0
- data/test/data/regression/s.dp.new +145 -0
- data/test/data/regression/seval_s.dp-stderr.new +10 -0
- data/test/data/regression/seval_s.dp.new +36 -0
- data/test/data/regression/sfilter_seval_s.dp-stderr.new +18 -0
- data/test/data/regression/sfilter_seval_s.dp.new +31 -0
- data/test/data/regression/thread4-stderr.new +10 -0
- data/test/data/regression/thread4.new +150 -0
- data/test/data/regression/thread4_4-stderr.new +25 -0
- data/test/data/regression/thread4_4.new +130 -0
- data/test/data/regression/thread4_4_failed_filter-stderr.new +5 -0
- data/test/data/regression/thread4_4_failed_filter-stderr.ref +5 -2
- data/test/data/regression/thread4_4_failed_filter.new +110 -0
- data/test/data/regression/vcf2json_full_header-stderr.new +10 -0
- data/test/data/regression/vcf2json_full_header.new +225 -0
- data/test/data/regression/vcf2json_full_header.ref +225 -0
- data/test/data/regression/vcf2json_use_meta-stderr.new +10 -0
- data/test/data/regression/vcf2json_use_meta.new +4697 -0
- data/test/data/regression/vcf2json_use_meta.ref +4697 -0
- data/test/performance/metrics.md +18 -1
- data/test/stress/stress_test.sh +15 -0
- data/test/tmp/test.vcf +12469 -0
- metadata +63 -64
- data/Gemfile.lock +0 -81
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bio-vcf 0.9.4 (biogem Ruby 2.5.5 with pcows) by Pjotr Prins 2015-2020
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Waiting up to 180 seconds for pid=30691 to complete /tmp/bio-vcf_20201222-30689-1bguuj5/000001-bio-vcf
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Processing remaining output...
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Trying: [[30691, 1, "/tmp/bio-vcf_20201222-30689-1bguuj5/000001-bio-vcf"]]
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Set lock on [[30691, 1, "/tmp/bio-vcf_20201222-30689-1bguuj5/000001-bio-vcf"]]
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Processing output file /tmp/bio-vcf_20201222-30689-1bguuj5/000001-bio-vcf (blocking)
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Checking for output_lock on existing /tmp/bio-vcf_20201222-30689-1bguuj5/000001-bio-vcf
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Trying to remove /tmp/bio-vcf_20201222-30689-1bguuj5/000001-bio-vcf.keep
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Removing /tmp/bio-vcf_20201222-30689-1bguuj5/000001-bio-vcf.keep
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Removing dir /tmp/bio-vcf_20201222-30689-1bguuj5
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{
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"HEADER": {
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"files": [],
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"COLUMNS": ["CHROM","POS","ID","REF","ALT","QUAL","FILTER","INFO","FORMAT","Original","s1t1","s2t1","s3t1","s1t2","s2t2","s3t2"],
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"META": {"INFO":{"AC":{"ID":"AC","Number":"A","Type":"Integer","Description":"Allele count in genotypes, for each ALT allele, in the same order as listed"},"AF":{"ID":"AF","Number":"A","Type":"Float","Description":"Allele Frequency, for each ALT allele, in the same order as listed"},"AN":{"ID":"AN","Number":"1","Type":"Integer","Description":"Total number of alleles in called genotypes"},"BaseQRankSum":{"ID":"BaseQRankSum","Number":"1","Type":"Float","Description":"Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities"},"DP":{"ID":"DP","Number":"1","Type":"Integer","Description":"Approximate read depth; some reads may have been filtered"},"DS":{"ID":"DS","Number":"0","Type":"Flag","Description":"Were any of the samples downsampled?"},"Dels":{"ID":"Dels","Number":"1","Type":"Float","Description":"Fraction of Reads Containing Spanning Deletions"},"FS":{"ID":"FS","Number":"1","Type":"Float","Description":"Phred-scaled p-value using Fisher's exact test to detect strand bias"},"HaplotypeScore":{"ID":"HaplotypeScore","Number":"1","Type":"Float","Description":"Consistency of the site with at most two segregating haplotypes"},"InbreedingCoeff":{"ID":"InbreedingCoeff","Number":"1","Type":"Float","Description":"Inbreeding coefficient as estimated from the genotype likelihoods per-sample when compared against the Hardy-Weinberg expectation"},"MLEAC":{"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"},"MLEAF":{"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"},"MQ":{"ID":"MQ","Number":"1","Type":"Float","Description":"RMS Mapping Quality"},"MQ0":{"ID":"MQ0","Number":"1","Type":"Integer","Description":"Total Mapping Quality Zero Reads"},"MQRankSum":{"ID":"MQRankSum","Number":"1","Type":"Float","Description":"Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities"},"QD":{"ID":"QD","Number":"1","Type":"Float","Description":"Variant Confidence/Quality by Depth"},"RPA":{"ID":"RPA","Number":".","Type":"Integer","Description":"Number of times tandem repeat unit is repeated, for each allele (including reference)"},"RU":{"ID":"RU","Number":"1","Type":"String","Description":"Tandem repeat unit (bases)"},"ReadPosRankSum":{"ID":"ReadPosRankSum","Number":"1","Type":"Float","Description":"Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias"},"STR":{"ID":"STR","Number":"0","Type":"Flag","Description":"Variant is a short tandem repeat"}},"FORMAT":{"AD":{"ID":"AD","Number":".","Type":"Integer","Description":"Allelic depths for the ref and alt alleles in the order listed"},"DP":{"ID":"DP","Number":"1","Type":"Integer","Description":"Approximate read depth (reads with MQ=255 or with bad mates are filtered)"},"GQ":{"ID":"GQ","Number":"1","Type":"Integer","Description":"Genotype Quality"},"GT":{"ID":"GT","Number":"1","Type":"String","Description":"Genotype"},"PL":{"ID":"PL","Number":"G","Type":"Integer","Description":"Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification"}},"FILTER":{"LowQual":{"ID":"LowQual","Description":"Low quality"}},"contig":{"1":{"ID":"1","length":249250621,"assembly":"b37"},"2":{"ID":"2","length":243199373,"assembly":"b37"},"3":{"ID":"3","length":198022430,"assembly":"b37"},"4":{"ID":"4","length":191154276,"assembly":"b37"},"5":{"ID":"5","length":180915260,"assembly":"b37"},"6":{"ID":"6","length":171115067,"assembly":"b37"},"7":{"ID":"7","length":159138663,"assembly":"b37"},"8":{"ID":"8","length":146364022,"assembly":"b37"},"9":{"ID":"9","length":141213431,"assembly":"b37"},"10":{"ID":"10","length":135534747,"assembly":"b37"},"11":{"ID":"11","length":135006516,"assembly":"b37"},"12":{"ID":"12","length":133851895,"assembly":"b37"},"13":{"ID":"13","length":115169878,"assembly":"b37"},"14":{"ID":"14","length":107349540,"assembly":"b37"},"15":{"ID":"15","length":102531392,"assembly":"b37"},"16":{"ID":"16","length":90354753,"assembly":"b37"},"17":{"ID":"17","length":81195210,"assembly":"b37"},"18":{"ID":"18","length":78077248,"assembly":"b37"},"19":{"ID":"19","length":59128983,"assembly":"b37"},"20":{"ID":"20","length":63025520,"assembly":"b37"},"21":{"ID":"21","length":48129895,"assembly":"b37"},"22":{"ID":"22","length":51304566,"assembly":"b37"},"X":{"ID":"X","length":155270560,"assembly":"b37"},"Y":{"ID":"Y","length":59373566,"assembly":"b37"},"MT":{"ID":"MT","length":16569,"assembly":"b37"},"GL000207.1":{"ID":"GL000207.1","length":4262,"assembly":"b37"},"GL000226.1":{"ID":"GL000226.1","length":15008,"assembly":"b37"},"GL000229.1":{"ID":"GL000229.1","length":19913,"assembly":"b37"},"GL000231.1":{"ID":"GL000231.1","length":27386,"assembly":"b37"},"GL000210.1":{"ID":"GL000210.1","length":27682,"assembly":"b37"},"GL000239.1":{"ID":"GL000239.1","length":33824,"assembly":"b37"},"GL000235.1":{"ID":"GL000235.1","length":34474,"assembly":"b37"},"GL000201.1":{"ID":"GL000201.1","length":36148,"assembly":"b37"},"GL000247.1":{"ID":"GL000247.1","length":36422,"assembly":"b37"},"GL000245.1":{"ID":"GL000245.1","length":36651,"assembly":"b37"},"GL000197.1":{"ID":"GL000197.1","length":37175,"assembly":"b37"},"GL000203.1":{"ID":"GL000203.1","length":37498,"assembly":"b37"},"GL000246.1":{"ID":"GL000246.1","length":38154,"assembly":"b37"},"GL000249.1":{"ID":"GL000249.1","length":38502,"assembly":"b37"},"GL000196.1":{"ID":"GL000196.1","length":38914,"assembly":"b37"},"GL000248.1":{"ID":"GL000248.1","length":39786,"assembly":"b37"},"GL000244.1":{"ID":"GL000244.1","length":39929,"assembly":"b37"},"GL000238.1":{"ID":"GL000238.1","length":39939,"assembly":"b37"},"GL000202.1":{"ID":"GL000202.1","length":40103,"assembly":"b37"},"GL000234.1":{"ID":"GL000234.1","length":40531,"assembly":"b37"},"GL000232.1":{"ID":"GL000232.1","length":40652,"assembly":"b37"},"GL000206.1":{"ID":"GL000206.1","length":41001,"assembly":"b37"},"GL000240.1":{"ID":"GL000240.1","length":41933,"assembly":"b37"},"GL000236.1":{"ID":"GL000236.1","length":41934,"assembly":"b37"},"GL000241.1":{"ID":"GL000241.1","length":42152,"assembly":"b37"},"GL000243.1":{"ID":"GL000243.1","length":43341,"assembly":"b37"},"GL000242.1":{"ID":"GL000242.1","length":43523,"assembly":"b37"},"GL000230.1":{"ID":"GL000230.1","length":43691,"assembly":"b37"},"GL000237.1":{"ID":"GL000237.1","length":45867,"assembly":"b37"},"GL000233.1":{"ID":"GL000233.1","length":45941,"assembly":"b37"},"GL000204.1":{"ID":"GL000204.1","length":81310,"assembly":"b37"},"GL000198.1":{"ID":"GL000198.1","length":90085,"assembly":"b37"},"GL000208.1":{"ID":"GL000208.1","length":92689,"assembly":"b37"},"GL000191.1":{"ID":"GL000191.1","length":106433,"assembly":"b37"},"GL000227.1":{"ID":"GL000227.1","length":128374,"assembly":"b37"},"GL000228.1":{"ID":"GL000228.1","length":129120,"assembly":"b37"},"GL000214.1":{"ID":"GL000214.1","length":137718,"assembly":"b37"},"GL000221.1":{"ID":"GL000221.1","length":155397,"assembly":"b37"},"GL000209.1":{"ID":"GL000209.1","length":159169,"assembly":"b37"},"GL000218.1":{"ID":"GL000218.1","length":161147,"assembly":"b37"},"GL000220.1":{"ID":"GL000220.1","length":161802,"assembly":"b37"},"GL000213.1":{"ID":"GL000213.1","length":164239,"assembly":"b37"},"GL000211.1":{"ID":"GL000211.1","length":166566,"assembly":"b37"},"GL000199.1":{"ID":"GL000199.1","length":169874,"assembly":"b37"},"GL000217.1":{"ID":"GL000217.1","length":172149,"assembly":"b37"},"GL000216.1":{"ID":"GL000216.1","length":172294,"assembly":"b37"},"GL000215.1":{"ID":"GL000215.1","length":172545,"assembly":"b37"},"GL000205.1":{"ID":"GL000205.1","length":174588,"assembly":"b37"},"GL000219.1":{"ID":"GL000219.1","length":179198,"assembly":"b37"},"GL000224.1":{"ID":"GL000224.1","length":179693,"assembly":"b37"},"GL000223.1":{"ID":"GL000223.1","length":180455,"assembly":"b37"},"GL000195.1":{"ID":"GL000195.1","length":182896,"assembly":"b37"},"GL000212.1":{"ID":"GL000212.1","length":186858,"assembly":"b37"},"GL000222.1":{"ID":"GL000222.1","length":186861,"assembly":"b37"},"GL000200.1":{"ID":"GL000200.1","length":187035,"assembly":"b37"},"GL000193.1":{"ID":"GL000193.1","length":189789,"assembly":"b37"},"GL000194.1":{"ID":"GL0001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Jan 25 10:33:56 CET 2014","Epoch":1390642436187,"CommandLineOptions":"analysis_type=UnifiedGenotyper input_file=[/data_fedor12/BAM/sander/Liver_clones/BIOPSY17513D/mapping/BIOPSY17513D_dedup_realigned_recalibrated.bam, /data_fedor12/BAM/sander/Liver_clones/clone3/mapping/clone3_dedup_realigned_recalibrated.bam, /data_fedor12/BAM/sander/Liver_clones/clone4/mapping/clone4_dedup_realigned_recalibrated.bam, /data_fedor12/BAM/sander/Liver_clones/clone10/mapping/clone10_dedup_realigned_recalibrated.bam, /data_fedor12/BAM/sander/Liver_clones/subclone33/mapping/subclone33_dedup_realigned_recalibrated.bam, /data_fedor12/BAM/sander/Liver_clones/subclone46/mapping/subclone46_dedup_realigned_recalibrated.bam, /data_fedor12/BAM/sander/Liver_clones/subclone105/mapping/subclone105_dedup_realigned_recalibrated.bam] read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=[/data_fedor13/sander/variant_calling/Liver_clones/.queue/scatterGather/UnifiedGenotyper_noref-1-sg/temp_001_of_500/scatter.intervals] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data_fedor13/common_data/references/H_sapiens/GATK_b37_bundle_reference/basespace/human_g1k_v37.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=250 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 allow_bqsr_on_reduced_bams_despite_repeated_warnings=false 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 genotype_likelihoods_model=SNP pcr_error_rate=1.0E-4 computeSLOD=false annotateNDA=false pair_hmm_implementation=LOGLESS_CACHING min_base_quality_score=17 max_deletion_fraction=0.05 allSitePLs=false min_indel_count_for_genotyping=5 min_indel_fraction_per_sample=0.25 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 output_mode=EMIT_VARIANTS_ONLY heterozygosity=0.001 indel_heterozygosity=1.25E-4 genotyping_mode=DISCOVERY standard_min_confidence_threshold_for_calling=30.0 standard_min_confidence_threshold_for_emitting=30.0 alleles=(RodBinding name= source=UNBOUND) max_alternate_alleles=6 input_prior=[] contamination_fraction_to_filter=0.0 contamination_fraction_per_sample_file=null p_nonref_model=EXACT_INDEPENDENT exactcallslog=null dbsnp=(RodBinding name= source=UNBOUND) 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 onlyEmitSamples=[] debug_file=null metrics_file=null annotation=[] excludeAnnotation=[] filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false"}},"fileformat":"VCFv4.1","reference":"file:human_g1k_v37.fasta"},
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{
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"seq:chr": "1" ,
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"seq:alt": "C"
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"DP": 249,
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"GQ": 90,
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1645
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1655
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1659
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1660
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1662
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1663
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1664
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1665
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1666
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1682
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1690
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1700
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1701
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1702
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1707
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1708
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1709
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1710
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1711
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1712
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1713
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1714
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1715
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1716
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1717
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1718
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1719
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1720
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1721
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1722
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1723
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1724
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1725
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1726
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1727
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1729
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1730
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1731
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1733
|
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1734
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1735
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1736
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1745
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1746
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1753
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1754
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1755
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1757
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1760
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|
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1762
|
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1763
|
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1764
|
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|
1765
|
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1766
|
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1767
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1770
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1771
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1772
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|
1773
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1774
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|
1775
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1777
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1778
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|
1779
|
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|
1780
|
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1781
|
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|
1782
|
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|
1783
|
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|
1784
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1785
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|
1787
|
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1788
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|
1789
|
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1790
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|
1791
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1792
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|
1793
|
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1794
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1795
|
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1796
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|
1797
|
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|
1798
|
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|
1799
|
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|
1800
|
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|
1801
|
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|
1802
|
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,
|
1803
|
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|
1804
|
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|
1805
|
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|
1806
|
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|
1807
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1808
|
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|
1809
|
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1810
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|
1811
|
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1812
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1813
|
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1814
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|
1815
|
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|
1816
|
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|
1817
|
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|
1818
|
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1819
|
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|
1820
|
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,
|
1821
|
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1822
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|
1823
|
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|
1824
|
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|
1825
|
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|
1826
|
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|
1827
|
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|
1828
|
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|
1829
|
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|
1830
|
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|
1831
|
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|
1832
|
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|
1833
|
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|
1834
|
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|
1835
|
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|
1836
|
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|
1837
|
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|
1838
|
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,
|
1839
|
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|
1840
|
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|
1841
|
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1842
|
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|
1843
|
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|
1844
|
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|
1845
|
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|
1846
|
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|
1847
|
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|
1848
|
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|
1849
|
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|
1850
|
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|
1851
|
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|
1852
|
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}
|
1853
|
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|
1854
|
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|
1855
|
+
}
|
1856
|
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|
1857
|
+
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|
1858
|
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|
1859
|
+
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|
1860
|
+
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|
1861
|
+
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|
1862
|
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|
1863
|
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|
1864
|
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|
1865
|
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|
1866
|
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|
1867
|
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|
1868
|
+
"Original": {
|
1869
|
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|
1870
|
+
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|
1871
|
+
|
1872
|
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|
1873
|
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|
1874
|
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|
1875
|
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|
1876
|
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|
1877
|
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|
1878
|
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|
1879
|
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|
1880
|
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|
1881
|
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|
1882
|
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|
1883
|
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|
1884
|
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,
|
1885
|
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|
1886
|
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|
1887
|
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|
1888
|
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|
1889
|
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|
1890
|
+
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|
1891
|
+
|
1892
|
+
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|
1893
|
+
|
1894
|
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"GT": "0/1",
|
1895
|
+
|
1896
|
+
"PL": [183,0,2085]
|
1897
|
+
|
1898
|
+
}
|
1899
|
+
|
1900
|
+
|
1901
|
+
|
1902
|
+
,
|
1903
|
+
|
1904
|
+
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|
1905
|
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|
1906
|
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|
1907
|
+
|
1908
|
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|
1909
|
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|
1910
|
+
"GQ": 86,
|
1911
|
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|
1912
|
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"GT": "0/1",
|
1913
|
+
|
1914
|
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"PL": [86,0,1557]
|
1915
|
+
|
1916
|
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}
|
1917
|
+
|
1918
|
+
|
1919
|
+
|
1920
|
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,
|
1921
|
+
|
1922
|
+
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|
1923
|
+
|
1924
|
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|
1925
|
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|
1926
|
+
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|
1927
|
+
|
1928
|
+
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|
1929
|
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|
1930
|
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"GT": "0/1",
|
1931
|
+
|
1932
|
+
"PL": [333,0,2098]
|
1933
|
+
|
1934
|
+
}
|
1935
|
+
|
1936
|
+
|
1937
|
+
|
1938
|
+
,
|
1939
|
+
|
1940
|
+
"s1t2": {
|
1941
|
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|
1942
|
+
"AD": [55,34],
|
1943
|
+
|
1944
|
+
"DP": 90,
|
1945
|
+
|
1946
|
+
"GQ": 99,
|
1947
|
+
|
1948
|
+
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|
1949
|
+
|
1950
|
+
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|
1951
|
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|
1952
|
+
}
|
1953
|
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|
1954
|
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|
1955
|
+
|
1956
|
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,
|
1957
|
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|
1958
|
+
"s2t2": {
|
1959
|
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|
1960
|
+
"AD": [47,18],
|
1961
|
+
|
1962
|
+
"DP": 65,
|
1963
|
+
|
1964
|
+
"GQ": 99,
|
1965
|
+
|
1966
|
+
"GT": "0/1",
|
1967
|
+
|
1968
|
+
"PL": [157,0,943]
|
1969
|
+
|
1970
|
+
}
|
1971
|
+
|
1972
|
+
|
1973
|
+
|
1974
|
+
,
|
1975
|
+
|
1976
|
+
"s3t2": {
|
1977
|
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|
1978
|
+
"AD": [89,28],
|
1979
|
+
|
1980
|
+
"DP": 117,
|
1981
|
+
|
1982
|
+
"GQ": 67,
|
1983
|
+
|
1984
|
+
"GT": "0/1",
|
1985
|
+
|
1986
|
+
"PL": [67,0,1921]
|
1987
|
+
|
1988
|
+
}
|
1989
|
+
|
1990
|
+
|
1991
|
+
}
|
1992
|
+
},
|
1993
|
+
{
|
1994
|
+
"seq:chr": "1" ,
|
1995
|
+
"seq:pos": 13757 ,
|
1996
|
+
"seq:ref": "G" ,
|
1997
|
+
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|
1998
|
+
, "dp": 1149 ,
|
1999
|
+
"samples" : {
|
2000
|
+
|
2001
|
+
|
2002
|
+
|
2003
|
+
|
2004
|
+
"Original": {
|
2005
|
+
|
2006
|
+
"AD": [47,4],
|
2007
|
+
|
2008
|
+
"DP": 53,
|
2009
|
+
|
2010
|
+
"GQ": 16,
|
2011
|
+
|
2012
|
+
"GT": "0/0",
|
2013
|
+
|
2014
|
+
"PL": [0,16,344]
|
2015
|
+
|
2016
|
+
}
|
2017
|
+
|
2018
|
+
|
2019
|
+
|
2020
|
+
,
|
2021
|
+
|
2022
|
+
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|
2023
|
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|
2024
|
+
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|
2025
|
+
|
2026
|
+
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|
2027
|
+
|
2028
|
+
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|
2029
|
+
|
2030
|
+
"GT": "0/0",
|
2031
|
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|
2032
|
+
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|
2033
|
+
|
2034
|
+
}
|
2035
|
+
|
2036
|
+
|
2037
|
+
|
2038
|
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,
|
2039
|
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|
2040
|
+
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|
2041
|
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|
2042
|
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|
2043
|
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|
2044
|
+
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|
2045
|
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|
2046
|
+
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|
2047
|
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|
2048
|
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|
2049
|
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|
2050
|
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|
2051
|
+
|
2052
|
+
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|
2053
|
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|
2054
|
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|
2055
|
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|
2056
|
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,
|
2057
|
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|
2058
|
+
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|
2059
|
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|
2060
|
+
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|
2061
|
+
|
2062
|
+
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|
2063
|
+
|
2064
|
+
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|
2065
|
+
|
2066
|
+
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|
2067
|
+
|
2068
|
+
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|
2069
|
+
|
2070
|
+
}
|
2071
|
+
|
2072
|
+
|
2073
|
+
|
2074
|
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,
|
2075
|
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|
2076
|
+
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|
2077
|
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|
2078
|
+
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|
2079
|
+
|
2080
|
+
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|
2081
|
+
|
2082
|
+
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|
2083
|
+
|
2084
|
+
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|
2085
|
+
|
2086
|
+
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|
2087
|
+
|
2088
|
+
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|
2089
|
+
|
2090
|
+
|
2091
|
+
|
2092
|
+
,
|
2093
|
+
|
2094
|
+
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|
2095
|
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|
2096
|
+
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|
2097
|
+
|
2098
|
+
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|
2099
|
+
|
2100
|
+
"GQ": 99,
|
2101
|
+
|
2102
|
+
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|
2103
|
+
|
2104
|
+
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|
2105
|
+
|
2106
|
+
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|
2107
|
+
|
2108
|
+
|
2109
|
+
|
2110
|
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,
|
2111
|
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|
2112
|
+
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|
2113
|
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|
2114
|
+
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|
2115
|
+
|
2116
|
+
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|
2117
|
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|
2118
|
+
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|
2119
|
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|
2120
|
+
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|
2121
|
+
|
2122
|
+
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|
4572
|
+
"Original": {
|
4573
|
+
|
4574
|
+
"AD": [21,29],
|
4575
|
+
|
4576
|
+
"DP": 50,
|
4577
|
+
|
4578
|
+
"GQ": 99,
|
4579
|
+
|
4580
|
+
"GT": "0/1",
|
4581
|
+
|
4582
|
+
"PL": [504,0,450]
|
4583
|
+
|
4584
|
+
}
|
4585
|
+
|
4586
|
+
|
4587
|
+
|
4588
|
+
,
|
4589
|
+
|
4590
|
+
"s1t1": {
|
4591
|
+
|
4592
|
+
"AD": [55,24],
|
4593
|
+
|
4594
|
+
"DP": 79,
|
4595
|
+
|
4596
|
+
"GQ": 99,
|
4597
|
+
|
4598
|
+
"GT": "0/1",
|
4599
|
+
|
4600
|
+
"PL": [209,0,838]
|
4601
|
+
|
4602
|
+
}
|
4603
|
+
|
4604
|
+
|
4605
|
+
|
4606
|
+
,
|
4607
|
+
|
4608
|
+
"s2t1": {
|
4609
|
+
|
4610
|
+
"AD": [49,37],
|
4611
|
+
|
4612
|
+
"DP": 86,
|
4613
|
+
|
4614
|
+
"GQ": 99,
|
4615
|
+
|
4616
|
+
"GT": "0/1",
|
4617
|
+
|
4618
|
+
"PL": [456,0,1002]
|
4619
|
+
|
4620
|
+
}
|
4621
|
+
|
4622
|
+
|
4623
|
+
|
4624
|
+
,
|
4625
|
+
|
4626
|
+
"s3t1": {
|
4627
|
+
|
4628
|
+
"AD": [74,32],
|
4629
|
+
|
4630
|
+
"DP": 106,
|
4631
|
+
|
4632
|
+
"GQ": 99,
|
4633
|
+
|
4634
|
+
"GT": "0/1",
|
4635
|
+
|
4636
|
+
"PL": [193,0,1519]
|
4637
|
+
|
4638
|
+
}
|
4639
|
+
|
4640
|
+
|
4641
|
+
|
4642
|
+
,
|
4643
|
+
|
4644
|
+
"s1t2": {
|
4645
|
+
|
4646
|
+
"AD": [41,19],
|
4647
|
+
|
4648
|
+
"DP": 60,
|
4649
|
+
|
4650
|
+
"GQ": 99,
|
4651
|
+
|
4652
|
+
"GT": "0/1",
|
4653
|
+
|
4654
|
+
"PL": [141,0,740]
|
4655
|
+
|
4656
|
+
}
|
4657
|
+
|
4658
|
+
|
4659
|
+
|
4660
|
+
,
|
4661
|
+
|
4662
|
+
"s2t2": {
|
4663
|
+
|
4664
|
+
"AD": [38,23],
|
4665
|
+
|
4666
|
+
"DP": 61,
|
4667
|
+
|
4668
|
+
"GQ": 99,
|
4669
|
+
|
4670
|
+
"GT": "0/1",
|
4671
|
+
|
4672
|
+
"PL": [257,0,548]
|
4673
|
+
|
4674
|
+
}
|
4675
|
+
|
4676
|
+
|
4677
|
+
|
4678
|
+
,
|
4679
|
+
|
4680
|
+
"s3t2": {
|
4681
|
+
|
4682
|
+
"AD": [38,46],
|
4683
|
+
|
4684
|
+
"DP": 84,
|
4685
|
+
|
4686
|
+
"GQ": 99,
|
4687
|
+
|
4688
|
+
"GT": "0/1",
|
4689
|
+
|
4690
|
+
"PL": [628,0,641]
|
4691
|
+
|
4692
|
+
}
|
4693
|
+
|
4694
|
+
|
4695
|
+
}
|
4696
|
+
}, ]
|
4697
|
+
}
|