Extended Data Fig. 5. Nucleotide-level map of BAP1 variant effect.
Functional scores for all 18,108 variants assessed, separated by exon region with GRCh38 genomic coordinates of regions targeted shown in the direction of transcription (BAP1 is transcribed from the negative strand). Frameshift, splice donor/acceptor and stop-gained variants deplete throughout the length of the gene, distinct regions of missense intolerance can be seen. Data points are coloured by VEP mutational consequence, functional classifications are distinguished by shape and significance by transparency.