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Additional context
CAPICE VEP plugin uses the value in the CSQ-column, e.g. 17 14093499 . T <DEL> 0 . CSQ=deletion
and compares this with the CAPICE output: 17 14093499 T <DEL> PMP22 5376 EntrezGene NM_000304.4 Transcript 0.08634275 VUS
for a <DEL> allele and probably also other situations this does not match.
Instead the ALLELE_NUM containing an allele index should be used to match on ALT allele. This requires changes to CAPICE?
Other plugins might suffer from the same issue?
The text was updated successfully, but these errors were encountered:
Describe the bug
A clear and concise description of what the bug is.
To Reproduce
test_sv
resultsoutput: sv.vcf.gz
capice annotation output: sv_chunk0_capice_output.tsv.gz
Expected behavior
Output
sv.vcf.gz
contains CAPICE scoresAdditional context
CAPICE VEP plugin uses the value in the CSQ-column, e.g.
17 14093499 . T <DEL> 0 . CSQ=deletion
and compares this with the CAPICE output:
17 14093499 T <DEL> PMP22 5376 EntrezGene NM_000304.4 Transcript 0.08634275 VUS
for a
<DEL>
allele and probably also other situations this does not match.Instead the
ALLELE_NUM
containing an allele index should be used to match on ALT allele. This requires changes to CAPICE?Other plugins might suffer from the same issue?
The text was updated successfully, but these errors were encountered: