[ensembl-dev] DNV annotation problem?
Chen,Ken
KChen3 at mdanderson.org
Thu Jan 16 21:28:53 GMT 2014
Dear VEP developers,
First of all, thank you for offering this wonderful resource. We really appreciate it.
In our analysis, we found this DNV (hg19, negative strand) in BRAF
7 140453136 140453137 TG AA
The correct HGVS annotation should be BRAF.V600K
However, VEP returned BRAF.W600K
It is important for us to fix this problem but we analyze data from real patient.
Please let us know how to do it.
Thanks.
-Ken
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