Figure 4
UCSC genome browser shots of prioritized non-coding variants, demonstrating the sequence conservation levels and the predicted functionality in ENCODE lymphoblastoid cell lines. The ‘prioritized variants’ track shows the location of the prioritized non-coding variants shared by both probands. (A) A prioritized variant is located in a predicted ‘active promoter’ for COQ5. (B) A prioritized variant is located in the intronic region of SMG6, and is predicted to be a ‘strong enhancer’.