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Referencing the closed #2333. I cannot reopen that issue.
Tested the changed 1.21 version including commit 7427402
bcftools 1.21-68-g0d635700-dirty
Using htslib 1.21-20-gc705bec2-dirty
Ran chromosome 1 using the same pipeline as #2333
While the changes in the commit certainly fixed the specific test case exemplified in #2333 there are still many duplicate variants in the data.
$BCFTOOLS view -H -r chr14:53952388 PRECIS_all_chr14.bcf | cut -f1-8
chr14 53952387 . CA C 39.13 PASS MQRankSum=4.805;ReadPosRankSum=1.526;FractionInformativeReads=0.941;DP=65;DQUAL=50;MQ=250
chr14 53952388 . A C 59.97 PASS MQRankSum=4.002;ReadPosRankSum=1.98;FractionInformativeReads=1;DP=32296;DQUAL=11.67;MQ=247.47
Define a duplicate variant in the output vcf file generated from the input gvcfs as identical CHR, POS, REF, ALT.
In the chr 1 file there were 464,424 duplicate variants in the chr 1 output from 1379 WGCV gvcfs. There are clearly still fundamental problem(s) in merge/norm gvcfs, and I believe these are linked to complex MNP regions.
Here are 2 examples:
$BCFTOOLS view -H -r chr1:233339377 PRECIS_all_chr1.bcf | cut -f1-8
chr1 233339374 . CCTTCTT TCTTCTT 35.7 PASS MQRankSum=2.196;ReadPosRankSum=-1.083;FractionInformativeReads=0.75;DP=32;DQUAL=50;MQ=167.83
chr1 233339374 . CCTTCTT C 24.76 PASS MQRankSum=-3.298;ReadPosRankSum=-2.372;FractionInformativeReads=0.469;DP=295;DQUAL=21.08;MQ=166.79
chr1 233339377 . T C 27.75 PASS MQRankSum=0.935;ReadPosRankSum=1.203;FractionInformativeReads=0.382;DP=337;DQUAL=26.31;MQ=180.414
chr1 233339377 . T C 26.07 PASS FractionInformativeReads=0.5;DP=141;DQUAL=29.32;MQ=157.78
chr1 233339377 . T TCCTC 26.07 PASS FractionInformativeReads=0.5;DP=141;DQUAL=29.32;MQ=157.78
chr1 233339377 . T TCCTC 25.27 PASS MQRankSum=-3.682;ReadPosRankSum=-1.004;FractionInformativeReads=0.65;DP=309;DQUAL=24.86;MQ=161.228
chr1 233339377 . TCTTCTC T 40.29 PASS MQRankSum=2.751;ReadPosRankSum=-2.128;FractionInformativeReads=0.897;DP=252;DQUAL=43.28;MQ=186.91
chr1 233339377 . TCTTCTC T 18.59 PASS FractionInformativeReads=0.519;DP=27;DQUAL=128.75;MQ=179.6
chr1 233339377 . TCTTCTC TCCTCCTTCTC 18.59 PASS FractionInformativeReads=0.519;DP=27;DQUAL=128.75;MQ=179.6
and
$BCFTOOLS view -H -r chr1:190840844 PRECIS_all_chr1.bcf | cut -f1-8
chr1 190840844 . G GTTTTTTTTTTTTTTTT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GTTTTTTTTTTTT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GTTTTTTTTTTTTTTTTT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GTTTTTTTTTTTTTT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GTTTTTTTTTTTTTTTTTT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GTTTTTTTTTTTTT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTT 25.03 PASS FractionInformativeReads=0.286;MQRankSum=0.25;ReadPosRankSum=-0.083;DP=770;DQUAL=26.26;MQ=215.85
chr1 190840844 . G GTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTGTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTGTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTGTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTT 39.65 PASS MQRankSum=0.234;ReadPosRankSum=0.983;FractionInformativeReads=0.857;DP=10817;DQUAL=12.06;MQ=213.805
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTGTTTTTTTTTT 36.26 PASS FractionInformativeReads=0.353;MQRankSum=-0.307;ReadPosRankSum=-0.482;DP=2795;DQUAL=31.33;MQ=213.203
chr1 190840844 . G GTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTT 33.01 PASS MQRankSum=1.422;ReadPosRankSum=1.422;FractionInformativeReads=0.75;DP=1604;DQUAL=25.44;MQ=214.29
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTT 26.26 PASS FractionInformativeReads=0.185;MQRankSum=0.474;ReadPosRankSum=1.107;DP=967;DQUAL=21.51;MQ=211.472
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTT 27.07 PASS FractionInformativeReads=0.55;MQRankSum=0.794;ReadPosRankSum=1.66;DP=768;DQUAL=23.54;MQ=217.625
chr1 190840844 . G GTTTTTTTTTTTTT 27.07 PASS FractionInformativeReads=0.55;MQRankSum=0.794;ReadPosRankSum=1.66;DP=768;DQUAL=23.54;MQ=217.625
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 27.07 PASS FractionInformativeReads=0.55;MQRankSum=0.794;ReadPosRankSum=1.66;DP=768;DQUAL=23.54;MQ=217.625
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTT 27.07 PASS FractionInformativeReads=0.55;MQRankSum=0.794;ReadPosRankSum=1.66;DP=768;DQUAL=23.54;MQ=217.625
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 27.07 PASS FractionInformativeReads=0.55;MQRankSum=0.794;ReadPosRankSum=1.66;DP=768;DQUAL=23.54;MQ=217.625
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTT 27.07 PASS FractionInformativeReads=0.55;MQRankSum=0.794;ReadPosRankSum=1.66;DP=768;DQUAL=23.54;MQ=217.625
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 27.07 PASS FractionInformativeReads=0.55;MQRankSum=0.794;ReadPosRankSum=1.66;DP=768;DQUAL=23.54;MQ=217.625
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTT 27.07 PASS FractionInformativeReads=0.55;MQRankSum=0.794;ReadPosRankSum=1.66;DP=768;DQUAL=23.54;MQ=217.625
chr1 190840844 . G GTTTTTTTTTTTTTTT 27.07 PASS FractionInformativeReads=0.55;MQRankSum=0.794;ReadPosRankSum=1.66;DP=768;DQUAL=23.54;MQ=217.625
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTT 27.07 PASS FractionInformativeReads=0.55;MQRankSum=0.794;ReadPosRankSum=1.66;DP=768;DQUAL=23.54;MQ=217.625
chr1 190840844 . G GT 27.07 PASS FractionInformativeReads=0.55;MQRankSum=0.794;ReadPosRankSum=1.66;DP=768;DQUAL=23.54;MQ=217.625
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 38.94 PASS FractionInformativeReads=0.5;MQRankSum=1.991;ReadPosRankSum=-0.83;DP=720;DQUAL=23.12;MQ=217.3
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 38.94 PASS FractionInformativeReads=0.5;MQRankSum=1.991;ReadPosRankSum=-0.83;DP=720;DQUAL=23.12;MQ=217.3
chr1 190840844 . G GT 38.94 PASS FractionInformativeReads=0.5;MQRankSum=1.991;ReadPosRankSum=-0.83;DP=720;DQUAL=23.12;MQ=217.3
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTT 38.94 PASS FractionInformativeReads=0.5;MQRankSum=1.991;ReadPosRankSum=-0.83;DP=720;DQUAL=23.12;MQ=217.3
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTT 27.3 PASS MQRankSum=1.528;ReadPosRankSum=-0.231;FractionInformativeReads=0.731;DP=429;DQUAL=36.64;MQ=211.495
chr1 190840844 . G GTTTTTTTTTTTTT 27.3 PASS MQRankSum=1.528;ReadPosRankSum=-0.231;FractionInformativeReads=0.731;DP=429;DQUAL=36.64;MQ=211.495
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTT 27.3 PASS MQRankSum=1.528;ReadPosRankSum=-0.231;FractionInformativeReads=0.731;DP=429;DQUAL=36.64;MQ=211.495
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 27.3 PASS MQRankSum=1.528;ReadPosRankSum=-0.231;FractionInformativeReads=0.731;DP=429;DQUAL=36.64;MQ=211.495
chr1 190840844 . G GTTTTTTTTTTTTTTT 27.3 PASS MQRankSum=1.528;ReadPosRankSum=-0.231;FractionInformativeReads=0.731;DP=429;DQUAL=36.64;MQ=211.495
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTT 29.18 PASS FractionInformativeReads=0.286;MQRankSum=0.619;ReadPosRankSum=-2.023;DP=369;DQUAL=34.4;MQ=220.263
chr1 190840844 . G GTTTTTTTTTTTTT 29.18 PASS FractionInformativeReads=0.286;MQRankSum=0.619;ReadPosRankSum=-2.023;DP=369;DQUAL=34.4;MQ=220.263
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 29.18 PASS FractionInformativeReads=0.286;MQRankSum=0.619;ReadPosRankSum=-2.023;DP=369;DQUAL=34.4;MQ=220.263
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTT 29.18 PASS FractionInformativeReads=0.286;MQRankSum=0.619;ReadPosRankSum=-2.023;DP=369;DQUAL=34.4;MQ=220.263
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTT 29.18 PASS FractionInformativeReads=0.286;MQRankSum=0.619;ReadPosRankSum=-2.023;DP=369;DQUAL=34.4;MQ=220.263
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 29.18 PASS FractionInformativeReads=0.286;MQRankSum=0.619;ReadPosRankSum=-2.023;DP=369;DQUAL=34.4;MQ=220.263
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 29.18 PASS FractionInformativeReads=0.286;MQRankSum=0.619;ReadPosRankSum=-2.023;DP=369;DQUAL=34.4;MQ=220.263
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 29.18 PASS FractionInformativeReads=0.286;MQRankSum=0.619;ReadPosRankSum=-2.023;DP=369;DQUAL=34.4;MQ=220.263
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 22.48 PASS FractionInformativeReads=0.333;MQRankSum=0.849;ReadPosRankSum=-1.262;DP=230;DQUAL=34.83;MQ=223.62
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 22.48 PASS FractionInformativeReads=0.333;MQRankSum=0.849;ReadPosRankSum=-1.262;DP=230;DQUAL=34.83;MQ=223.62
chr1 190840844 . G GTTTTTTTTTTTTTTTTTT 22.48 PASS FractionInformativeReads=0.333;MQRankSum=0.849;ReadPosRankSum=-1.262;DP=230;DQUAL=34.83;MQ=223.62
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTT 22.48 PASS FractionInformativeReads=0.333;MQRankSum=0.849;ReadPosRankSum=-1.262;DP=230;DQUAL=34.83;MQ=223.62
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTT 19.88 PASS MQRankSum=3.076;ReadPosRankSum=0.927;FractionInformativeReads=0.862;DP=220;DQUAL=24.79;MQ=214.48
chr1 190840844 . G GTTTTTTTTTTTTT 19.88 PASS MQRankSum=3.076;ReadPosRankSum=0.927;FractionInformativeReads=0.862;DP=220;DQUAL=24.79;MQ=214.48
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 19.88 PASS MQRankSum=3.076;ReadPosRankSum=0.927;FractionInformativeReads=0.862;DP=220;DQUAL=24.79;MQ=214.48
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 19.88 PASS MQRankSum=3.076;ReadPosRankSum=0.927;FractionInformativeReads=0.862;DP=220;DQUAL=24.79;MQ=214.48
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 19.88 PASS MQRankSum=3.076;ReadPosRankSum=0.927;FractionInformativeReads=0.862;DP=220;DQUAL=24.79;MQ=214.48
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 19.88 PASS MQRankSum=3.076;ReadPosRankSum=0.927;FractionInformativeReads=0.862;DP=220;DQUAL=24.79;MQ=214.48
chr1 190840844 . G GTTTTTTTTTTTT 22.72 PASS MQRankSum=0.31;ReadPosRankSum=-1.094;FractionInformativeReads=0.816;DP=162;DQUAL=39.73;MQ=209.113
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTT 22.72 PASS MQRankSum=0.31;ReadPosRankSum=-1.094;FractionInformativeReads=0.816;DP=162;DQUAL=39.73;MQ=209.113
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 21.53 PASS FractionInformativeReads=0.69;MQRankSum=0.8;ReadPosRankSum=-0.667;DP=62;DQUAL=28.1;MQ=216.067
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 21.53 PASS FractionInformativeReads=0.69;MQRankSum=0.8;ReadPosRankSum=-0.667;DP=62;DQUAL=28.1;MQ=216.067
chr1 190840844 . G GTTTTTTTTTTTTTTTT 7.78 PASS MQRankSum=3.618;ReadPosRankSum=-1.007;FractionInformativeReads=0.75;DP=28;DQUAL=24.34;MQ=225.5
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTT 21.46 PASS MQRankSum=0.794;ReadPosRankSum=-0.072;FractionInformativeReads=0.556;DP=182;DQUAL=26.01;MQ=219.618
chr1 190840844 . G GTTTTTTTTTTTTTTTTTT 21.46 PASS MQRankSum=0.794;ReadPosRankSum=-0.072;FractionInformativeReads=0.556;DP=182;DQUAL=26.01;MQ=219.618
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTT 16.35 PASS FractionInformativeReads=0.625;DP=76;DQUAL=30.06;MQ=217.587
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTT 16.35 PASS FractionInformativeReads=0.625;DP=76;DQUAL=30.06;MQ=217.587
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTT 16.35 PASS FractionInformativeReads=0.625;DP=76;DQUAL=30.06;MQ=217.587
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTT 23.64 PASS FractionInformativeReads=0.55;DP=67;DQUAL=47.26;MQ=219.433
chr1 190840844 . G GTTTTTTTTTTTTTTT 23.64 PASS FractionInformativeReads=0.55;DP=67;DQUAL=47.26;MQ=219.433
chr1 190840844 . G GT 35.57 PASS FractionInformativeReads=0.767;DP=30;DQUAL=166.71;MQ=218.99
chr1 190840844 . G GTTTTTTTT 25.41 PASS MQRankSum=0.735;ReadPosRankSum=0.105;FractionInformativeReads=0.742;DP=204;DQUAL=36.42;MQ=206.481
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTT 26.08 PASS FractionInformativeReads=0.556;MQRankSum=2.666;ReadPosRankSum=-0.759;DP=146;DQUAL=44.88;MQ=217.08
chr1 190840844 . G GTTTTTTTTTTTTT 26.08 PASS FractionInformativeReads=0.556;MQRankSum=2.666;ReadPosRankSum=-0.759;DP=146;DQUAL=44.88;MQ=217.08
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTT 15.58 PASS MQRankSum=2.739;ReadPosRankSum=-1.659;FractionInformativeReads=0.8;DP=39;DQUAL=48.95;MQ=224.735
chr1 190840844 . G GTTTTTTTTTTTTT 27.73 PASS MQRankSum=0.394;ReadPosRankSum=-0.197;FractionInformativeReads=0.75;DP=109;DQUAL=41.86;MQ=215.77
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 21.56 PASS MQRankSum=1.2;ReadPosRankSum=-1.493;FractionInformativeReads=0.8;DP=123;DQUAL=22.03;MQ=214.647
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 21.56 PASS MQRankSum=1.2;ReadPosRankSum=-1.493;FractionInformativeReads=0.8;DP=123;DQUAL=22.03;MQ=214.647
chr1 190840844 . G GTTTTTTGTTTTTTT 10.61 PASS MQRankSum=-0.039;ReadPosRankSum=-1.362;FractionInformativeReads=0.875;DP=44;DQUAL=43.3;MQ=227.285
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 10.61 PASS MQRankSum=-0.039;ReadPosRankSum=-1.362;FractionInformativeReads=0.875;DP=44;DQUAL=43.3;MQ=227.285
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTT 14.11 PASS MQRankSum=-0.065;ReadPosRankSum=-1.485;FractionInformativeReads=0.667;DP=48;DQUAL=37.44;MQ=210.155
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 13.23 PASS MQRankSum=0.206;ReadPosRankSum=-1.196;FractionInformativeReads=0.833;DP=51;DQUAL=38.03;MQ=224.895
chr1 190840844 . G GTT 24.43 PASS MQRankSum=-1.313;ReadPosRankSum=-1.182;FractionInformativeReads=0.71;DP=31;DQUAL=50;MQ=213.34
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 11.97 PASS MQRankSum=1.294;ReadPosRankSum=0.925;FractionInformativeReads=0.545;DP=43;DQUAL=32.81;MQ=229.79
chr1 190840844 . G GTTTTTTTTTTTTTTTTTTTTTTT 16.96 PASS FractionInformativeReads=0.381;DP=21;DQUAL=75.73;MQ=227.09
Test case will be delivered per previously when you are ready to look this.
Thanks for your support.
Joe.
The text was updated successfully, but these errors were encountered:
jcm6t
changed the title
bcftools 1.20 merge gvcfs results in more than one variant at the same location for complex polyallelic MNP variants, continuation of #2333
bcftools 1.21 merge gvcfs results in more than one variant at the same location for complex polyallelic MNP variants, continuation of #2333
Jan 21, 2025
Referencing the closed #2333. I cannot reopen that issue.
Tested the changed 1.21 version including commit 7427402
bcftools 1.21-68-g0d635700-dirty
Using htslib 1.21-20-gc705bec2-dirty
Ran chromosome 1 using the same pipeline as #2333
While the changes in the commit certainly fixed the specific test case exemplified in #2333 there are still many duplicate variants in the data.
Define a duplicate variant in the output vcf file generated from the input gvcfs as identical CHR, POS, REF, ALT.
In the chr 1 file there were 464,424 duplicate variants in the chr 1 output from 1379 WGCV gvcfs. There are clearly still fundamental problem(s) in merge/norm gvcfs, and I believe these are linked to complex MNP regions.
Here are 2 examples:
and
Test case will be delivered per previously when you are ready to look this.
Thanks for your support.
Joe.
The text was updated successfully, but these errors were encountered: