Fig. 7

pLoFs in last exons. a Position of premature stop variants in coding transcripts. Compared to HGMD variants, both common and rare 1KG, ESP6500, and ExAC variants are enriched in the last 5% of the coding sequence. AF, allele frequency, pLoF, putative loss-of-function variant, and CDS, coding sequence. Variants at allele frequency <1% are considered to be rare variants. Variants with at least 1% allele frequency are considered common. b Predicted benign scores for premature stop variants in the last coding exons. In the box plots, the center line represents the median value of the data, the box goes from the first quartile to the third quartile. The lower whisker goes from Q1 to the smallest non-outlier in the data set, and the upper whisker goes from Q3 to the largest non-outlier in the data set. Outliers are indicated by the plotted points. Training variants are excluded in this plot