[ensembl-dev] Ensembl VEP: local script assigned incorrect annotation to variants on chrY
Sarah Hunt
seh at ebi.ac.uk
Fri Apr 1 12:19:07 BST 2016
Hi Emma,
When did you pick up the cache files? There was a problem with the
chromosome Y files initially produced for e!77 and they were updated on
the ftp site on 11/11/2014. If you picked them up as soon as they were
released, you may have the broken version.
We would recommend you switch to a newer version of the code. GRCh37 is
still supported and recent versions of VEP are faster than the version
you currently have.
Best wishes,
Sarah
On 01/04/2016 03:02, cy_jiang wrote:
> Hello there, I am using the VEP script (version 77) to analyse my
> variation data locally. It works fine on almost all chromosomes except
> chrY. For example, variant record "chrY 14107314" got annotation
> "ENSG00000235649" when using the website VEP, which is correct.
> However, when I use VEP locally, this record was assigned with
> "ENSG00000165246". The genome reference I am using is GRCh37. My
> command is shown below :perl
> /home/software/ensembl-tools-release-77/scripts/variant_effect_predictor/variant_effect_predictor.pl
> -i input.vcf -o output.vep.vcf –offline –dir_cache
> /home/data/ensembl/cache –vcf –merged –force_overwrite –quiet –fork 10
> –hgvs –assembly GRCh37 –everything Can anyone give me some clue on
> this? Thank you very much! Best, Emma
>
>
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