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possible bug in TRA conversion

Open anoronh4 opened this issue 2 years ago • 0 comments

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?

anoronh4 avatar Jan 26 '22 23:01 anoronh4