cheanney

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...

Hi Team, Is there any chance to provide ensembl exon number as one of the annotations? Thanks, Anney

gnomad update

1

Hi, The gnomad v4 is out. Any plans on updating this source? Thanks, Anney

encode error

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Hi We are trying to make new echtvar file. The following are the command and error: ./echtvar encode gnomad.exomes.r2.1.1.sites.only.controls.norm.vcf.gz  gnomad.json gnomad.exome.r2.1.1.sites.only.controls.norm.echtvar_encode.zip thread 'main' panicked at 'Error opening vcf.', src/commands/encoder_cmd.rs:179:14 note:...

Update genecode mapper

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Hi, We are attempting to annotate all variants for the KRT86 gene. Based on the HG38 genomic location of KRT86, we obtained all gnomAD v4 variants within this region. While...

Annotation confusion

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Hi, First of all, we want to thank you for this wonderful application. It has streamlined our variant annotation workflow tremendously. We submitted the HG19 chr16-11349332-CC-TT variant to OpenCravat and...