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Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

Funcotator log says "Cannot create complete funcotation for variant at chr1:25813992-25814012 due to alternate allele: *"

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    Gökalp Çelik

    Hi 周尤佳

    Seems like an edge case has occurred therefore Funcotator could not solve it. Can you try with a nightly build of GATK from docker (or you can build one yourself from the master branch) with resource bundle 1.8 for Funcotator to see if this problem persists?

    Regards

     

     

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    周尤佳

    Hi Gökalp

    Thanks for the help, I also want to know if Funcotator is designed to output snps presenting in the database only, because I found all my snps not in the database are filtered out or just not annotated.

    I would like to know about these undocumented mutations because I kind of induced mutations and tried to detect them.

    Thanks!

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    Gökalp Çelik

    Hi again. 

    Funcotator is not limited to a certain set of variants but can work all major short variants that are included within the resource bundle transcripts and genome build. If you think that even the latest build of Funcotator and GATK resource bundle does not solve your problem you may try using alternative annotators such as Variant Effect Predictor from ensembl to see if they work for your case. 

    I hope this helps. 

    Regards. 

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