Fig. 1

Germline and somatic alterations detected in renal medullary carcinoma. Co-mutation plot depicting the germline and somatic alterations identified in each RMC sample in the Children’s Oncology Group cohort as indicated. The detailed information corresponding to each sample is indicated in the top panel, followed by the HBB genotype and the type of somatic SMARCB1 alteration in each allele. Expression of SMARCB1 as assessed by immunohistochemistry (IHC) staining is also as indicated. Germline alterations (i.e., frameshift indels, stop-gain, splicing mutations) in the double-strand break repair, nucleotide excision repair (NER), and base excision repair (BER) pathways are shown, followed by the status of the G1/G2 risk alleles of the APOL1 kidney disease predisposition gene. Somatic alterations in the DNA repair and replication pathway, SWI/SNF complex, and other cancer-related genes are displayed in the bottom panel. *Sample which is homozygous for the APOL1 G1 allele