ASPSCR1 and cancer: In particular, we found 14 rare germline heterozygous missense variants (frequency < 0.05%) mapped to candidate cancer predisposition genes, including a missense variant in exon 6 of the ASPSCR1 gene (Figure 3, right), which was classified as a variant of unknown significance (VUS), according to the ACMG 2015 criteria [14] (RefSeq NM_001251888.1(ASPSCR1):c.449C>A (p.Ala150Asp)).