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When we run this BRAF entry with an insertion mutation in this MAF file via mafannotator.py script, -q HGVSp, -q HGVSp_Short , and -q Genomic_Change returns conflicting different results:
Annotation by Genomic_Change returns Unknown.
Annotation by HGVSp returns Likely Oncogenic.
Annotation by HGVSp_Short returns Likely Oncogenic.
When we run this another BRAF entry with a missense mutation in this MAF file via mafannotator.py script, -q HGVSp, -q HGVSp_Short , and -q Genomic_Change returns conflicting different results:
Annotation by Genomic_Change returns Likely Oncogenic.
Annotation by HGVSp returns Unknown.
Annotation by HGVSp_Short returns Unknown.
Example 1:
When we run this
BRAF
entry with an insertion mutation in this MAF file viamafannotator.py
script,-q HGVSp
,-q HGVSp_Short
, and-q Genomic_Change
returns conflicting different results:Annotation by
Genomic_Change
returnsUnknown
.Annotation by
HGVSp
returnsLikely Oncogenic
.Annotation by
HGVSp_Short
returnsLikely Oncogenic
.It seems like the correct call is
Likely Oncogenic
w/ drug recommendations as shown here: https://www.oncokb.org/gene/BRAF/G506_S507insISQThe question is what is the reason for the conflict between annotations by
HGVSp
,HGVSp_Short
andGenomic_Change
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