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Strange output by Funcotator #8965
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As a work-around, how do I fully localize the gnomAD data sources? |
Update: I localized gnomAD and got the same result. So I looked at the gnomAD annotation files and found the issue - there is a bug in how the gnomad_genome annotation files were prepared. Some variants appear twice, which is causing Funcotator to output two allele frequency annotations for each variant: Example: This bug would affect every pipeline that uses gnomad genome Funcotator for filtering. |
Hi,
With gatk 4.6.0 and Funcotator data sources v1.8, and output in VCF format, I'm seeing some annotations with strange character combinations inside of them:
"%7C"
"%20"
For example for one varaint chr11:54942730 C>T (hg38), for gnomAD_genome_AF, I'm seeing:
8.55286e-05_%7C_3.46021e-04
But this should simply be one number.
Seems like a bug in the parsing of the retrieval of gnomAD info from the google cloud bucket by Funcotator.
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