has been released! See
variant in HGVS notation
(currently only possible for SNVs)
For InDels, use the VCF format, i.e. always
start with the last reference base before the variant
If you use MutationTaster, please cite
: Schwarz JM, Cooper DN, Schuelke M, Seelow D.
MutationTaster2: mutation prediction for the deep-sequencing age.
Nat Methods. 2014 Apr;11(4):361-2.
Current build: NCBI 37 / Ensembl 66