Additional file 3: of Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence

Pathogenic variants. Each line corresponds to a variant, providing: the amino acid replacement and its location in the protein sequence, the UniProt code for the protein, the values of the contribution of the three biochemical/biophysical properties (Blosum62 elements, position specific scoring matrix elements and Shannon’s entropy) followed by the output of the pathogenicity predictions for the reference methods used in this work (for PolyPhen-2 we give the output of its two versions –HDIV and HVAR- although in this work we only used HDIV predictions), and ‘?’ is given when no output was provided by the method. The last column gives the dataset where the variant belongs, either VS228 or VS2168. (CSV 1616 kb)