FIG 4.

Interpreting variants in a cohort in cBioPortal (EGFR). (A) Users can switch between different transcripts and see how the mutations affect their transcript of choice. (B) Protein-level annotations, such as PTM sites, can be seen along with the protein representation of the transcript. In addition, one can see (C-E) many of the variant-specific annotations provided by Genome Nexus as columns in the mutation table, including Hotspots, Functional Impact, gnomAD, and ClinVar. dbSNP, database for Single Nucleotide Polymorphisms; OncoKB, Oncology Knowledge Base; PTM, Post-Translational Modification; VUS, Variant of Unknown Significance.