VEP determines the effect of your variants (SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions.
Simply input the coordinates of your variants and the nucleotide changes to find out the:
  • Genes and Transcripts affected by the variants
  • Location of the variants (e.g. upstream of a transcript, in coding sequence, in non-coding RNA, in regulatory regions)
  • Consequence of your variants on the protein sequence (e.g. stop gained, missense, stop lost, frameshift)
  • Known variants that match yours, and associated minor allele frequencies from the 1000 Genomes Project
  • SIFT and PolyPhen-2 scores for changes to protein sequence
Species:
Assembly:
Name for this job (optional):
Input data:
Uploader

Paste data ,one position per line or drag file here.

Transcript database to use: