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New TruScore and INS RecOvl
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TruScore is calculated differently and INS now have a reciprocal overlap computed.
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ACEnglish committed Dec 21, 2021
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Showing 24 changed files with 116 additions and 120 deletions.
12 changes: 6 additions & 6 deletions repo_utils/test_files/answer_key/bench12/fn.vcf
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##INFO=<ID=MatchId,Number=1,Type=String,Description="Id to help tie base/comp calls together {chunkid}.{baseid}.{compid}">
##INFO=<ID=Multi,Number=0,Type=Flag,Description="Call is false due to non-multimatching">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA24385
chr20 278930 . C CGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAG 60 . QNAME=HG002-S9-H2-000001F;QSTART=232485;QSTRAND=+;SVTYPE=INS;SVLEN=184;PctSeqSimilarity=0.662277;PctSizeSimilarity=0.338858;PctRecOverlap=0;SizeDiff=-359;StartDistance=-139;EndDistance=-139;TruScore=41;MatchId=3.0.0;Multi GT:PL:DP 0/1:7,9,6:23,9
chr20 279062 . G GGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGTGGGAGGGAGGGAGGGAT 60 . QNAME=HG002-S9-H1-000001F;QSTART=258112;QSTRAND=+;SVTYPE=INS;SVLEN=139;PctSeqSimilarity=0.419771;PctSizeSimilarity=0.255985;PctRecOverlap=0;SizeDiff=-404;StartDistance=-7;EndDistance=-7;TruScore=27;MatchId=3.1.0;Multi GT:PL:DP 1/0:5,1,4:27,38
chr20 278930 . C CGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAG 60 . QNAME=HG002-S9-H2-000001F;QSTART=232485;QSTRAND=+;SVTYPE=INS;SVLEN=184;PctSeqSimilarity=0.662277;PctSizeSimilarity=0.338858;PctRecOverlap=0.3407;SizeDiff=-359;StartDistance=-139;EndDistance=-139;TruScore=44;MatchId=3.0.0;Multi GT:PL:DP 0/1:7,9,6:23,9
chr20 279062 . G GGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGTGGGAGGGAGGGAGGGAT 60 . QNAME=HG002-S9-H1-000001F;QSTART=258112;QSTRAND=+;SVTYPE=INS;SVLEN=139;PctSeqSimilarity=0.419771;PctSizeSimilarity=0.255985;PctRecOverlap=0.255985;SizeDiff=-404;StartDistance=-7;EndDistance=-7;TruScore=31;MatchId=3.1.0;Multi GT:PL:DP 1/0:5,1,4:27,38
chr20 420665 . G GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC 61 . QNAME=HG002-S9-H2-000001F;QSTART=374905;QSTRAND=+;SVTYPE=INS;SVLEN=227;PctSeqSimilarity=0.995604;PctSizeSimilarity=0.995595;PctRecOverlap=1;SizeDiff=1;StartDistance=0;EndDistance=0;TruScore=99;MatchId=6.0.0;Multi GT:PL 0/1:.
chr20 642300 . G GCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGC 60 . QNAME=HG002-S9-H1-000001F;QSTART=621812;QSTRAND=+;SVTYPE=INS;SVLEN=408;PctSeqSimilarity=0.81157;PctSizeSimilarity=0.64557;PctRecOverlap=0;SizeDiff=-224;StartDistance=70;EndDistance=70;GTMatch;TruScore=56;MatchId=8.2.1 GT:PL:DP 1/0:5,10,5:44,36
chr20 641913 . G GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGA 60 . QNAME=HG002-S9-H1-000001F;QSTART=621365;QSTRAND=+;SVTYPE=INS;SVLEN=66;PctSeqSimilarity=0.611797;PctSizeSimilarity=0.10443;PctRecOverlap=0;SizeDiff=-566;StartDistance=-317;EndDistance=-317;GTMatch;TruScore=33;MatchId=8.0.1;Multi GT:PL:DP 1/0:7,5,7:34,13
chr20 642330 . G GGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC 60 . QNAME=HG002-S9-H2-000001F;QSTART=597257;QSTRAND=+;SVTYPE=INS;SVLEN=66;PctSeqSimilarity=0.431452;PctSizeSimilarity=0.104762;PctRecOverlap=0;SizeDiff=-564;StartDistance=123;EndDistance=123;GTMatch;TruScore=24;MatchId=8.3.0;Multi GT:PL:DP 0/1:6,1,9:20,25
chr20 709830 . G GACACTGCTCGGTCCTCCGCTCCGTGTGCCCTGTGACCCCCTCATCCTGCCTTTGGATCACGAGCTGGGGTCGGGGGAGGGGATGGTGGGGGGGACACTGCTCGGTCCTCCACTCCGTGTGCCCTGTGACCCCCTCATCCTGCCTTTGGATCACGAGCTGGGGTCGGGGGAGGGGATGGTGGGGGGGACACTGCTCGGTCCTCCGCTCCGTGTGCCCTGTGACCCCCTCATCCTGCCTTTGGATCACGAGCTGGGGTCGGGGGAGGGGATGGTGGGGGGAACACTGCTCGGTCCTCCACTCCGTGTGCCCTGTGACCCCCTCATCCTGCCTTTGGATCACGAGCTGGGGTCGGGGGAGGGGATGGTGGGGGGGACACTGCTCGGTCCTCCACTCCGTGTGCCCTGTGACCCCCTCATCCTGCCTTTGGATCACGAGCTGGGGTCGGGGGAGGGGATGGTGGGGGGA 60 . QNAME=HG002-S9-H1-000001F;QSTART=689726;QSTRAND=+;SVTYPE=INS;SVLEN=465;PctSeqSimilarity=0.0637584;PctSizeSimilarity=0.2;PctRecOverlap=0.0106383;SizeDiff=372;StartDistance=71;EndDistance=-22;GTMatch;TruScore=8;MatchId=9.1.0;Multi GT:PL:DP 1/0:4,8,7:50,48
chr20 642300 . G GCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGC 60 . QNAME=HG002-S9-H1-000001F;QSTART=621812;QSTRAND=+;SVTYPE=INS;SVLEN=408;PctSeqSimilarity=0.81157;PctSizeSimilarity=0.64557;PctRecOverlap=0.64613;SizeDiff=-224;StartDistance=70;EndDistance=70;GTMatch;TruScore=70;MatchId=8.2.1 GT:PL:DP 1/0:5,10,5:44,36
chr20 641913 . G GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGA 60 . QNAME=HG002-S9-H1-000001F;QSTART=621365;QSTRAND=+;SVTYPE=INS;SVLEN=66;PctSeqSimilarity=0.597718;PctSizeSimilarity=0.104762;PctRecOverlap=0.0871632;SizeDiff=-564;StartDistance=-294;EndDistance=-294;TruScore=26;MatchId=8.0.0;Multi GT:PL:DP 1/0:7,5,7:34,13
chr20 642330 . G GGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC 60 . QNAME=HG002-S9-H2-000001F;QSTART=597257;QSTRAND=+;SVTYPE=INS;SVLEN=66;PctSeqSimilarity=0.431452;PctSizeSimilarity=0.104762;PctRecOverlap=0.106181;SizeDiff=-564;StartDistance=123;EndDistance=123;GTMatch;TruScore=21;MatchId=8.3.0;Multi GT:PL:DP 0/1:6,1,9:20,25
chr20 709830 . G GACACTGCTCGGTCCTCCGCTCCGTGTGCCCTGTGACCCCCTCATCCTGCCTTTGGATCACGAGCTGGGGTCGGGGGAGGGGATGGTGGGGGGGACACTGCTCGGTCCTCCACTCCGTGTGCCCTGTGACCCCCTCATCCTGCCTTTGGATCACGAGCTGGGGTCGGGGGAGGGGATGGTGGGGGGGACACTGCTCGGTCCTCCGCTCCGTGTGCCCTGTGACCCCCTCATCCTGCCTTTGGATCACGAGCTGGGGTCGGGGGAGGGGATGGTGGGGGGAACACTGCTCGGTCCTCCACTCCGTGTGCCCTGTGACCCCCTCATCCTGCCTTTGGATCACGAGCTGGGGTCGGGGGAGGGGATGGTGGGGGGGACACTGCTCGGTCCTCCACTCCGTGTGCCCTGTGACCCCCTCATCCTGCCTTTGGATCACGAGCTGGGGTCGGGGGAGGGGATGGTGGGGGGA 60 . QNAME=HG002-S9-H1-000001F;QSTART=689726;QSTRAND=+;SVTYPE=INS;SVLEN=465;PctSeqSimilarity=0.0637584;PctSizeSimilarity=0.2;PctRecOverlap=0.202151;SizeDiff=372;StartDistance=71;EndDistance=-22;GTMatch;TruScore=15;MatchId=9.1.0;Multi GT:PL:DP 1/0:4,8,7:50,48
chr20 949516 . CTCTGAAGAGGTAACATTTGAACTGAGATGTAGAGGGAGAGAAGGAACTAGCCATGTGGAGATCTGGGGGAGGAGCATTCCAGGCAGAGGGGATAGCAAGTGCA C 60 . QNAME=HG002-S9-H2-000001F;QSTART=905663;QSTRAND=+;SVTYPE=DEL;SVLEN=-103;PctSeqSimilarity=.;PctSizeSimilarity=.;PctRecOverlap=.;SizeDiff=.;StartDistance=.;EndDistance=.;TruScore=.;MatchId=12.0._ GT:PL:DP 0/1:6,6,1:34,8
4 changes: 2 additions & 2 deletions repo_utils/test_files/answer_key/bench12/fp.vcf
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##INFO=<ID=Multi,Number=0,Type=Flag,Description="Call is false due to non-multimatching">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878
chr20 380878 . T TGATTAGCTCCGGTTTGCATCACCCGGACCGGGGGATTAGCTCCGGTTTGCATCACCCGGACCGGGG 60 . QNAME=cluster19_000000F;QSTART=25381150;QSTRAND=-;SVTYPE=INS;SVLEN=66;PctSeqSimilarity=.;PctSizeSimilarity=.;PctRecOverlap=.;SizeDiff=.;StartDistance=.;EndDistance=.;TruScore=.;MatchId=5._.0 GT:PL:AD 1/0:8,3,9:38,14
chr20 642230 . T TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG 60 . QNAME=cluster19_000000F;QSTART=25119065;QSTRAND=-;SVTYPE=INS;SVLEN=632;PctSeqSimilarity=0.81157;PctSizeSimilarity=0.64557;PctRecOverlap=0;SizeDiff=-224;StartDistance=70;EndDistance=70;GTMatch;TruScore=56;MatchId=8.2.1 GT:PL:AD 1/0:7,5,6:16,7
chr20 764537 . A AGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAT 60 . QNAME=cluster19_000000F;QSTART=24996803;QSTRAND=-;SVTYPE=INS;SVLEN=78;PctSeqSimilarity=0.80203;PctSizeSimilarity=0.666667;PctRecOverlap=1;SizeDiff=39;StartDistance=0;EndDistance=0;TruScore=81;MatchId=11.0.0;Multi GT:PL:AD 1/0:5,4,9:13,8
chr20 642230 . T TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG 60 . QNAME=cluster19_000000F;QSTART=25119065;QSTRAND=-;SVTYPE=INS;SVLEN=632;PctSeqSimilarity=0.81157;PctSizeSimilarity=0.64557;PctRecOverlap=0.64613;SizeDiff=-224;StartDistance=70;EndDistance=70;GTMatch;TruScore=70;MatchId=8.2.1 GT:PL:AD 1/0:7,5,6:16,7
chr20 764537 . A AGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAT 60 . QNAME=cluster19_000000F;QSTART=24996803;QSTRAND=-;SVTYPE=INS;SVLEN=78;PctSeqSimilarity=0.80203;PctSizeSimilarity=0.666667;PctRecOverlap=0.675214;SizeDiff=39;StartDistance=0;EndDistance=0;TruScore=71;MatchId=11.0.0;Multi GT:PL:AD 1/0:5,4,9:13,8
16 changes: 8 additions & 8 deletions repo_utils/test_files/answer_key/bench12/log.txt
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@@ -1,5 +1,5 @@
2021-10-17 23:27:02,980 [INFO] Running /data/truvari/__main__.py bench -b repo_utils/test_files/input1.vcf.gz -c repo_utils/test_files/input2.vcf.gz -f repo_utils/test_files/reference.fa -o test_results/bench12/
2021-10-17 23:27:02,981 [INFO] Params:
2021-12-21 13:57:48,338 [INFO] Running /data/truvari/__main__.py bench -b repo_utils/test_files/input1.vcf.gz -c repo_utils/test_files/input2.vcf.gz -f repo_utils/test_files/reference.fa -o test_results/bench12/
2021-12-21 13:57:48,340 [INFO] Params:
{
"base": "repo_utils/test_files/input1.vcf.gz",
"comp": "repo_utils/test_files/input2.vcf.gz",
Expand Down Expand Up @@ -27,11 +27,11 @@
"includebed": null,
"multimatch": false
}
2021-10-17 23:27:02,982 [INFO] Truvari version: 3.1.0-dev
2021-10-17 23:27:03,310 [INFO] Zipped 3934 variants. Counter({'base': 2151, 'comp': 1783})
2021-10-17 23:27:03,312 [INFO] 13 chunks of 30 variants. Counter({'base': 16, 'comp': 14})
2021-10-17 23:27:03,316 [INFO] Results peek: 8 TP-base 8 FN 50.00% Recall
2021-10-17 23:27:03,318 [INFO] Stats: {
2021-12-21 13:57:48,340 [INFO] Truvari version: 3.1.0-dev
2021-12-21 13:57:48,448 [INFO] Zipped 3934 variants. Counter({'base': 2151, 'comp': 1783})
2021-12-21 13:57:48,450 [INFO] 13 chunks of 3934 variants. Counter({'__filtered': 3904, 'base': 16, 'comp': 14})
2021-12-21 13:57:48,455 [INFO] Results peek: 8 TP-base 8 FN 50.00% Recall
2021-12-21 13:57:48,456 [INFO] Stats: {
"TP-base": 8,
"TP-call": 8,
"FP": 3,
Expand All @@ -47,4 +47,4 @@
"TP-base_FP-gt": 5,
"gt_concordance": 0.375
}
2021-10-17 23:27:03,323 [INFO] Finished bench
2021-12-21 13:57:48,460 [INFO] Finished bench
6 changes: 3 additions & 3 deletions repo_utils/test_files/answer_key/bench12/tp-base.vcf
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Expand Up @@ -47,11 +47,11 @@
##INFO=<ID=MatchId,Number=1,Type=String,Description="Id to help tie base/comp calls together {chunkid}.{baseid}.{compid}">
##INFO=<ID=Multi,Number=0,Type=Flag,Description="Call is false due to non-multimatching">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA24385
chr20 149013 . A ACCATATTTGGGAGGCAATTTTACCTGTTCTCAAGGCCGCATCTCTACCCCATCTCATGCGAATCCTGAC 60 . QNAME=HG002-S9-H1-000001F;QSTART=127907;QSTRAND=+;SVTYPE=INS;SVLEN=69;PctSeqSimilarity=0.997024;PctSizeSimilarity=1;PctRecOverlap=0;SizeDiff=0;StartDistance=-82;EndDistance=-82;GTMatch;TruScore=74;MatchId=1.0.0 GT:PL:DP 1/1:8,8,5:15,29
chr20 279069 . A AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGCGGGACGGAGGGAGGGC 60 . QNAME=HG002-S9-H2-000001F;QSTART=232808;QSTRAND=+;SVTYPE=INS;SVLEN=438;PctSeqSimilarity=0.873856;PctSizeSimilarity=0.80663;PctRecOverlap=1;SizeDiff=-105;StartDistance=0;EndDistance=0;TruScore=88;MatchId=3.2.0 GT:PL:DP 0/1:7,10,7:12,48
chr20 149013 . A ACCATATTTGGGAGGCAATTTTACCTGTTCTCAAGGCCGCATCTCTACCCCATCTCATGCGAATCCTGAC 60 . QNAME=HG002-S9-H1-000001F;QSTART=127907;QSTRAND=+;SVTYPE=INS;SVLEN=69;PctSeqSimilarity=0.997024;PctSizeSimilarity=1;PctRecOverlap=0;SizeDiff=0;StartDistance=-82;EndDistance=-82;GTMatch;TruScore=66;MatchId=1.0.0 GT:PL:DP 1/1:8,8,5:15,29
chr20 279069 . A AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGCGGGACGGAGGGAGGGC 60 . QNAME=HG002-S9-H2-000001F;QSTART=232808;QSTRAND=+;SVTYPE=INS;SVLEN=438;PctSeqSimilarity=0.873856;PctSizeSimilarity=0.80663;PctRecOverlap=0.808471;SizeDiff=-105;StartDistance=0;EndDistance=0;TruScore=82;MatchId=3.2.0 GT:PL:DP 0/1:7,10,7:12,48
chr20 306268 . A ACCAGGCTGGAGTGCAGTGGCTCACTGCGTGGCTCGCTACAGCCTACAACTCCTGGGCTCCAGCAATCCTGCTGCCCCAGCCTCCTGTGTAACTGAGACTACAGGCACGCACCACCACACCCAGCTAATTTTTTCTTTCTTTTTTTTTTTTTTGAGATGAACTCTCACTCTGTTGC 60 . QNAME=HG002-S9-H1-000001F;QSTART=285475;QSTRAND=+;SVTYPE=INS;SVLEN=175;PctSeqSimilarity=0.997159;PctSizeSimilarity=1;PctRecOverlap=1;SizeDiff=0;StartDistance=0;EndDistance=0;GTMatch;TruScore=99;MatchId=4.0.0 GT:PL:DP 1/1:2,7,2:17,31
chr20 420665 . G GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACC 60 . QNAME=HG002-S9-H1-000001F;QSTART=400044;QSTRAND=+;SVTYPE=INS;SVLEN=226;PctSeqSimilarity=1;PctSizeSimilarity=1;PctRecOverlap=1;SizeDiff=0;StartDistance=0;EndDistance=0;TruScore=100;MatchId=6.1.0 GT:PL:DP 1/0:4,8,6:32,9
chr20 613783 . TGTGTGCTGAGTCCAGCTCAAGTCCCTTGGTTCCCACTGCTGCTAAGCATGCACG T 60 . QNAME=HG002-S9-H1-000001F;QSTART=593293;QSTRAND=+;SVTYPE=DEL;SVLEN=-54;PctSeqSimilarity=1;PctSizeSimilarity=1;PctRecOverlap=1;SizeDiff=0;StartDistance=0;EndDistance=0;TruScore=100;MatchId=7.0.0 GT:PL:DP 1/1:6,8,8:40,41
chr20 642207 . T TGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG 60 . QNAME=HG002-S9-H2-000001F;QSTART=596630;QSTRAND=+;SVTYPE=INS;SVLEN=501;PctSeqSimilarity=0.88173;PctSizeSimilarity=0.795238;PctRecOverlap=1;SizeDiff=-129;StartDistance=0;EndDistance=0;GTMatch;TruScore=88;MatchId=8.1.0 GT:PL:DP 0/1:5,9,1:7,43
chr20 642207 . T TGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG 60 . QNAME=HG002-S9-H2-000001F;QSTART=596630;QSTRAND=+;SVTYPE=INS;SVLEN=501;PctSeqSimilarity=0.88173;PctSizeSimilarity=0.795238;PctRecOverlap=0.793978;SizeDiff=-129;StartDistance=0;EndDistance=0;GTMatch;TruScore=82;MatchId=8.1.0 GT:PL:DP 0/1:5,9,1:7,43
chr20 709759 . AGTGTGCCCTGTGACCCCCTCATCCTGCCTTTGGATCACGAGCTGGGGTCGGGGGAGGGGATGGTGGGGGGGACACTGCTCGGTCCTCCACTCC A 60 . QNAME=HG002-S9-H2-000001F;QSTART=664783;QSTRAND=+;SVTYPE=DEL;SVLEN=-93;PctSeqSimilarity=1;PctSizeSimilarity=1;PctRecOverlap=1;SizeDiff=0;StartDistance=0;EndDistance=0;TruScore=100;MatchId=9.0.0 GT:PL:DP 0/1:9,6,6:13,31
chr20 764537 . A AGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAT 60 . QNAME=HG002-S9-H1-000001F;QSTART=744872;QSTRAND=+;SVTYPE=INS;SVLEN=117;PctSeqSimilarity=1;PctSizeSimilarity=1;PctRecOverlap=1;SizeDiff=0;StartDistance=0;EndDistance=0;TruScore=100;MatchId=11.0.1 GT:PL:DP 1/1:2,1,5:40,30
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