Fig. 3

Pathogenic variants enriched in (a) diseases and (b) functional clusters across pan-cancer and single-cancer types using the linear regression model. Circle size indicates the excess of pathogenic variants per gene set, and color represents the significance of the enrichment in a specific cancer type compared to the control (1KG). Numbers in parentheses indicate the number of samples in each cancer type (left) and the number of tested genes in each disease (or functional annotation and pathway; bottom). The bar plot on the right shows the number of detected diseases (or functional terms and pathway) in each cancer type at a false discovery rate (FDR) of less than 0.05