[ensembl-dev] VEP variants missing on output
Guillermo Marco Puche
guillermo.marco at sistemasgenomicos.com
Tue May 21 13:15:03 BST 2013
Hello Will,
Here's the input:
https://github.com/guillermomarco/vep_plugins_71/blob/master/missing_variants/missing_output_variants.vcf
As you said it's not about the options or plugins. Launching VEP without
specyfiying any option still returns an output with missing variants.
Regards,
Guillermo.
On 05/21/2013 01:49 PM, Will McLaren wrote:
> Hi Guillermo,
>
> None of those options should filter out variants.
>
> Are you able to provide any of the files that recreate the problem?
>
> Is there any chance that you are using VCF input and it contains
> non-variant lines - this would be where the ALT column is empty or
> "."? If so, this may be your problem. To force these to be included in
> the output, you should add --allow_non_variant.
>
> Regards
>
> Will
>
>
> On 21 May 2013 09:40, Guillermo Marco Puche
> <guillermo.marco at sistemasgenomicos.com
> <mailto:guillermo.marco at sistemasgenomicos.com>> wrote:
>
> Hello,
>
> I've been checking VEP results, and i've noticed that I'm missing
> some input variants in the output.
>
> I think this may be issued to some of the options i'm using to
> launch vep:
>
> hgvs 1
> canonical 1
> ccds 1
> check_svs 1
> domains 1
> gmaf 1
> hgnc 1
> maf_1kg 1
> numbers 1
> polyphen b
> regulatory 1
> sift b
>
> Should be any of these options filtering output? I've disabled all
> plugins to run this test to be sure that it's not a plugin issue.
>
> * With a 406 variant input vcf file, I've missed 16 variants.
> * I then ran VEP with only those 16 missing variants and missed
> 3 on output.
> * Rerun again and now with 3 missing variants and now not a
> single one was missing.
>
> I would like to know what's behind that weird behaviour.
>
> Thank you.
>
> Best regards,
> Guillermo.
>
>
>
>
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