FIG A5.

(A) Microsatellite instability (MSI) status was assessable for 3,326 cases, and each case was designated as MSI-high (MSI-H), MSI-low (MSI-L), or microsatellite stable (MSS). MSI-H cases were assessed for the presence or absence of mismatch repair (MMR) genomic alterations (GAs). MSI-H or MMR GA–positive samples are indicated with a plus sign, and negative samples are indicated with a minus sign. Of the cases where both MSI status and MMR GA zygosity status could be determined, 82 cases had MMR GA that resulted in loss of function of both alleles (microsatellite status in this subset listed in table). (B) Tumor mutational burden (TMB) was evaluated for primary site and metastatic site cases. Box and whisker plots: Boxes span first and third quartiles, the median is denoted by the horizontal line in the box, and whiskers indicate maximum and minimum values with 1.5× the interquartile range. The percent TMB-high (TMB-H) or TMB of 10 or more mutations (mut)/Mb cases in primary site and metastatic site tumors is indicated. (C) TMB-H samples were assessed for whether they were MSI-H or MSS/MSI-L. TMB-H cases that were not MSI-H also were assessed for POLE V411L pathogenic mutations.