nORF stop-lost and stop-gained variants show signals of negative selection. The mutability-adjusted proportion of singletons (MAPS) was calculated for 35 variant bins of SNVs from gnomAD exomes (A) and genomes (B). Higher values indicate an enrichment of lower-frequency variants, suggesting negative selection. The canonical annotation of the bin is indicated along the x-axis, whereas the nORF annotation is indicated by color. Noncoding refers to variants falling outside of nORF regions. Dotted lines correspond to results from bins of only canonical annotations previously reported (Karczewski et al. 2020). (*) Permuted P adj < 0.05 versus noncoding bin and <0.05 versus synonymous bin with the same canonical consequence.
