Distribution of selected mutations along the different affected genes and their related functional categories.

A) Number of mutated samples by gene according to the described mutation filtering protocol (S2 Fig). Only 33 recurrent genes were included. B) Number of mutated samples by gene category (bottom). The corresponding number of genes included in each functional category (top) is also represented in order to avoid any size bias. C) The functional categories are distributed depending on the observed mutated samples and the known number of belonging genes. Both transcription factor and ubiquitination categories shown and excess of mutated samples. D) The number of mutated samples per category in the haloplex cohort were compared against a reference population of healthy samples (1000 genomes). Here, while metabolism and signalling genes categories appear poorly mutated, ubiquitination appears remarkably more mutated than the reference population.