Question: What does ALT 0 mean in a VCF?
0
gravatar for emyli
17 months ago by
emyli0
emyli0 wrote:

Hi,

I've recently come across variants in my VCF with the ALT allele 0, as in the 4th line of the example below. Can someone please explain what this nomenclature refers to?

Chr Start       End        Ref Alt
1   12885289    12885289    G   -
1   13036587    13036587    C   T
1   13696054    13696054    G   A
1   14105139    14105139    T   0

Thanks.

ADD COMMENTlink modified 17 months ago by finswimmer9.8k • written 17 months ago by emyli0

Check the first line on your VCF - what's the version?

ADD REPLYlink written 17 months ago by RamRS20k

Firstline says ##fileformat=VCFv4.2

ADD REPLYlink modified 17 months ago • written 17 months ago by emyli0

Hmmm. VCFv4.2 should not have a 0 allele. v4.2 has a LOT of pain points but AFAIK ALT=0 isn't one of them.

ADD REPLYlink written 17 months ago by RamRS20k
2
gravatar for finswimmer
17 months ago by
finswimmer9.8k
Germany
finswimmer9.8k wrote:

Hello,

this doesn't look like a vcf file. It seems to be an input file for ANNOVAR. I don't know for what it is useful, but due to the manual, it seems that "0" means that there is no information about how the Alt looks like.

fin swimmer

ADD COMMENTlink modified 17 months ago • written 17 months ago by finswimmer9.8k

Thanks, that is useful. This is actually generated from the ANNOVAR output .txt file (which I understand to be a more visually friendly version of the corressponding VCF).

ADD REPLYlink written 17 months ago by emyli0
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