Given a VCF file, this tool determines the effect of SNPs, insertions, deletions, CNVs or structural variants on genes, transcripts, and protein sequence, as well as regulatory regions. The tool uses the Ensembl VEP service running at the EBI.
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The tool currently works only with human hg38 data, but more genomes will be added.
The output file is a .tsv-file.
This tool is based on Ensembl VEP.