Fig. 4

Prioritization of non-exonic variants. Non-exonic variants of 54 probands and their parents were evaluated. a The distance of non-exonic variants to the nearest exon was determined based on UCSC exon regions and the average number of variants was grouped by distance. b The average number of variants observed at a given distance to the nearest exon plotted over distance on a logarithmic scale. c Minor allele frequencies estimated by a founder population comprised of 106 parents, excluding each proband’s own parents. Number of variants was averaged and graphed per allele frequency group. d CADD scores [23] were calculated and the average number of non-coding variants were grouped by raw CADD score. e Fraction of variants as a function of Phred-scaled CADD scores. f Average number of non-coding variants remaining for consideration after each filtration or prioritization step