Parse END field in Manta breakend variants #1491
Merged
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Fixes second issue mentioned in #1476:
END
cannot be a smaller number than variant start, according to VCF 4.4 specifications, even though this is what happens in the output of breakends from the SV caller Illumina Manta.As this is a popular SV caller, we will correctly parse the Manta breakend variant (even if out of VCF spec).
Changelog
END
and parse the variant end again (this way, variant end is the same as start)END
asEND2
[1:106864407[A
, the information in the INFO field is ignoredCHR2
andEND2
are defined, they will be used to prepare the breakend information (logic already introduced in Add support for breakend variants from VCF #1399)END
that is already run in$parser->get_end()
Testing
Run VEP with some breakend (and other) variants, such as:
2 227032111 BND00000186 A [1:106864407[A . LowQual IMPRECISE;SVTYPE=BND;SVMETHOD=EMBL.DELLYv0.7.8;CHR2=1;END=106864407;PE=2;MAPQ=60;CT=5to5;CIPOS=-231,231;CIEND=-231,231 GT:GL:GQ:FT:RCL:RC:RCR:CN:DR:DV:RR:RV 0/0:0,-19.006,-594:10000:PASS:8:5259:1:1169:101:2:0:0
I added unit tests to check changes.