mitoNGS / MToolBox

A bioinformatics pipeline to analyze mtDNA from NGS data
http://sourceforge.net/projects/mtoolbox/?source=navbar
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'None' genotypes #84

Closed cefrnch closed 5 years ago

cefrnch commented 5 years ago

Hi,

With the newest version v1.2, some (but not all) multi-allelic sites in sample.vcf have have 'None' as the genotype as below:

chrMT 310 . T TC,C . PASS AC=1,1;AN=2 GT:DP:HF:CILOW:CIUP:SDP None:1492:1.0,0.193:0.997,0.169:1.0,0.22:36;1456,95;88

Position 310 has this problem in most of my samples, but it sometimes happens at other positions. Below is the beginning of a sample.vcf showing the issue. I'm currently getting around it by replacing 'None' with '.'

Thank you.

fileformat=VCFv4.0

reference=chrRCRS

FORMAT=

FORMAT=

FORMAT=

FORMAT=

FORMAT=

FORMAT=

INFO=

INFO=

CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NGC00378_01_mito

chrMT 263 . A G . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2596:0.999:0.997:1.0:973;1621 chrMT 299 . C CA . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2246:0.005:0.003:0.009:11;0 chrMT 302 . A AC,C . PASS AC=1,1;AN=3 GT:DP:HF:CILOW:CIUP:SDP 0/1/2:829:0.101,0.017:0.083,0.01:0.124,0.028:72;12,1;13 chrMT 309 . C CCT . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1715:0.003:0.001:0.008:0;6 chrMT 310 . T TC,C . PASS AC=1,1;AN=2 GT:DP:HF:CILOW:CIUP:SDP None:1492:1.0,0.193:0.997,0.169:1.0,0.22:36;1456,95;88 chrMT 316 . G C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1841:0.009:0.005:0.014:16;0 chrMT 318 . T C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1784:0.003:0.001:0.008:6;0 chrMT 326 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1990:0.003:0.001:0.006:5;0 chrMT 333 . T C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2068:0.004:0.002:0.008:8;0 chrMT 357 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2271:0.002:0.001:0.005:5;0 chrMT 366 . G A . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2251:0.002:0.001:0.005:5;0 chrMT 432 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1639:0.004:0.001:0.008:2;4 chrMT 435 . C A . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2413:0.002:0.001:0.005:5;0 chrMT 439 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1617:0.015:0.01:0.022:23;1 chrMT 441 . C A . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2221:0.002:0.001:0.005:5;0 chrMT 442 . T A,C . PASS AC=1,1;AN=3 GT:DP:HF:CILOW:CIUP:SDP 0/1/2:1671:0.003,0.004:0.001,0.002:0.007,0.009:5;0,7;0 chrMT 444 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1983:0.003:0.001:0.007:3;3 chrMT 446 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1850:0.003:0.001:0.007:6;0 chrMT 448 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1944:0.003:0.001:0.007:5;1 chrMT 451 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1888:0.003:0.001:0.006:3;2 chrMT 456 . C T . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2242:0.002:0.001:0.005:5;0 chrMT 464 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1135:0.032:0.023:0.044:32;4 chrMT 466 . T C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1554:0.003:0.001:0.008:5;0 chrMT 470 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1895:0.015:0.01:0.021:28;0 chrMT 471 . T G . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1800:0.003:0.001:0.007:0;5 chrMT 478 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1894:0.003:0.001:0.006:5;0 chrMT 484 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2063:0.004:0.002:0.008:8;0 chrMT 485 . T G . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2020:0.002:0.001:0.006:0;5 chrMT 499 . G C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2043:0.03:0.023:0.038:60;1 chrMT 503 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1724:0.012:0.008:0.019:21;0 chrMT 508 . A C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1640:0.004:0.002:0.009:6;1 chrMT 511 . CAG C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1953:0.012:0.008:0.018:15;9 chrMT 512 . AGC A,CGC . PASS AC=1,1;AN=3 GT:DP:HF:CILOW:CIUP:SDP 0/1/2:1856:0.008,0.005:0.004,0.002:0.013,0.009:5;9,9;0 chrMT 513 . GCA G,CCA . PASS AC=1,1;AN=2 GT:DP:HF:CILOW:CIUP:SDP None:2346:1.0,0.003:0.998,0.001:1.0,0.007:1154;1192,6;0 chrMT 515 . A G . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:175:0.114:0.075:0.171:8;12 chrMT 518 . CA C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:2095:0.004:0.002:0.008:6;3 chrMT 520 . CA C . PASS AC=1;AN=2 GT:DP:HF:CILOW:CIUP:SDP 0/1:1998:0.003:0.001:0.007:5;1

clody23 commented 5 years ago

Hi,

this issue should have been resolved by this latest fix: https://github.com/mitoNGS/MToolBox/commit/890ed0998a2440a3aedeb97d3c6461a633674c2a

Can you please update and rerun and let us know if this resolves your issue?

Many thanks.

Claudia

cefrnch commented 5 years ago

Hi Claudia, Yes, this fixed it. Thanks very much! Courtney

clody23 commented 5 years ago

Great!

Best wishes, Claudia