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KarchinLab / open-cravat

A modular annotation tool for genomic variants
MIT License
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Hugo Gene annotation #116

Closed cheanney closed 5 months ago

cheanney commented 2 years ago

Hi,

First of all, thank you for this useful tool. Greatly appreciated.

We noticed that some of the Hugo IDs are GBK ids instead of Gene symbols. We understand that a variant did not map to a gene, but in some cases, the variant did map to a gene (TJP2) in the IGV view. Please see the attachment for example.

Screen Shot 2022-06-21 at 1 38 52 PM

Thanks again,

Anney

mlarsen5 commented 5 months ago

This issue has been fixed, please update the hg38 mapper module to receive the correct gene mapping.