Fig. 3

Classification of the variants included in our training set as based on broadly used in silico prediction tools. The columns show each functionality class (“decreased,” “increased,” “no,” and “normal”) and each row shows the distribution of variants within each class according to the predicted variant effect, as assigned per each in silico prediction tool. Predefined cut-off values for classification (as used in VEP and dbNSFP) are implemented. The scores are derived from ClinPred, Condel, FATHMM, fathmm.XF, LRT, MetaLR, Polyphen-2, PROVEAN, and SIFT