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0 or 1 based coordinates. #9029

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vappiah opened this issue Oct 31, 2024 · 1 comment
Open

0 or 1 based coordinates. #9029

vappiah opened this issue Oct 31, 2024 · 1 comment

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@vappiah
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vappiah commented Oct 31, 2024

Dear Developers,
I recently used UCSC hg38 as a reference for gatk mutect2 variant calling. I plan to annotate the variants using VEP but from this thread, VEP supports 1-based system.
My question is that, is the vcf generated by mutect2 0-based or 1-based.

Thanks

@lbergelson
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The coordinates of output / input files depend on the file type. In this case it is a 1 based system because VCF is always 1 based.

From the VCF Spec

  1. POS - position: The reference position, with the 1st base having position 1.

Some other formats (ex: BED format) use a 0 based position. GATK reads and writes files in their matching coordinates.

Internally it converts them all to a uniform format for processing. The GATK internal format is 1 based and matches VCF.

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