Fig. 3

Primary consequences predicted by the Variant Effect Predictor (VEP) tool in scenarios S2 (Fig. 3a), S4 (Fig. 3b), S6 (Fig. 3c), and S8 (Fig. 3d). UTR: untranslated region. UTR variant: a transcript variant that is within an UTR; 3’UTR: an UTR variant of the 3’UTR; 5’UTR: an UTR variant of the 5’UTR; Other: variants non-coding transcript exon, splice polypyrimidine tract, intron intergenic, intron, non-coding transcript, splice region, synonymous, splice acceptor, splice polypyrimidine tract, splice region, intron, splice donor, stop lost, splice donor region, intron, splice polypyrimidine tract, intron, non-coding transcript, splice region, 3’UTR, stop retained, missense, and splice region