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possible bug in TRA conversion
i have the following vcf record that i believe is not correctly represented in the result when using vcftobedpe:
6 57184412 Pipeline_TRA_6_57184412 N N]8:36752983] . PASS END=36752983;Callers=manta,delly;NumCallers=2;CHR2=8;SVTYPE=TRA;STRANDS=++;delly_CIEND=-2,2;delly_CIPOS=-2,2;delly_PE=3;delly_MAPQ=60;delly_SRMAPQ=60;delly_SR=12;delly_SRQ=0.985981;delly_CE=1.93075;delly_CT=3to3;delly_PRECISE;delly_SVMETHOD=EMBL.DELLYv0.8.2;delly_INSLEN=0;delly_HOMLEN=2;delly_RDRATIO=1.17045;delly_SOMATIC;manta_CIPOS=0,1;manta_MATEID=MantaBND:136490:1:6:0:0:0:1;manta_HOMLEN=1;manta_HOMSEQ=A;manta_BND_DEPTH=70;manta_MATE_BND_DEPTH=96;manta_SOMATIC;manta_SOMATICSCORE=90;NumCallersPass=2 delly_GQ:delly_FT:delly_RC:delly_RCL:delly_RCR:delly_CN:delly_DR:delly_DV:delly_RR:delly_RV:manta_PR:manta_SR 10000:PASS:117:50:63:2:36:3:28:16:44,3:55,16 10000:PASS:207:101:133:2:64:1:55:0:78,0:107,0
the result is as follows:
6 57184412 57184412 6 36752983 36752983 Pipeline_TRA_6_57184412 . + + TRA PASS Pipeline_TRA_6_57184412 N N]8:36752983] . . . delly_CIEND=-2,2;delly_CIPOS=-2,2;delly_PE=3;delly_MAPQ=60;delly_SRMAPQ=60;delly_SR=12;delly_SRQ=0.985981;delly_CE=1.93075;delly_CT=3to3;delly_PRECISE;delly_SVMETHOD=EMBL.DELLYv0.8.2;delly_INSLEN=0;delly_HOMLEN=2;delly_RDRATIO=1.17045;delly_SOMATIC;manta_CIPOS=0,1;manta_MATEID=MantaBND:136490:1:6:0:0:0:1;manta_HOMLEN=1;manta_HOMSEQ=A;manta_BND_DEPTH=70;manta_MATE_BND_DEPTH=96;manta_SOMATIC;manta_SOMATICSCORE=90;Callers=manta,delly;NumCallers=2;CHR2=8;END=36752983;SVTYPE=TRA;POS=57184412;STRANDS=++;NumCallersPass=2 . GT:delly_GQ:delly_FT:delly_RC:delly_RCL:delly_RCR:delly_CN:delly_DR:delly_DV:delly_RR:delly_RV:manta_PR:manta_SR ./.:10000:PASS:117:50:63:2:36:3:28:16:44,3:55,16 ./.:10000:PASS:207:101:133:2:64:1:55:0:78,0:107,0
CHROM_B
is incorrect, as it should be 8 rather than 6, although START_B
and END_B
are correct. It seems to ignore the the breakend notation in the ALT
column, and the CHR2
INFO
tag.
seems like maybe only BND
events parse the second chromosome. if so, is there any special reason, or were TRA
events simply not accounted for?