Table 1.
Top mutated genes across the Yale cohort (n = 213)
| Symbol | Samples with mutations at recurrent positions |
Incidence (%) |
Symbol | Samples with inactivating mutations |
Incidence (%) |
|---|---|---|---|---|---|
| BRAF | 93 | 43.7 | NF1 | 28 | 13.1 |
| NRAS | 62 | 29.1 | ARID2 | 20 | 9.4 |
| RAC1 | 13 | 6.1 | TP53 | 17 | 8.0 |
| PPP6C | 12 | 5.6 | CDKN2A | 11 | 5.2 |
| GABRA3 | 11 | 5.2 | KMT2B | 9 | 4.2 |
| ABCB5 | 9 | 4.2 | ATM | 6 | 2.8 |
| TRRAP | 8 | 3.8 | ASPM | 5 | 2.3 |
| CYP7B1 | 8 | 3.8 | ARID1A | 5 | 2.3 |
| PCDHGA1 | 7 | 3.3 | RB1 | 4 | 1.9 |
| DGKI | 7 | 3.3 | TNRC6B | 4 | 1.9 |
| KNSTRN | 6 | 2.8 | SETD2 | 4 | 1.9 |
| BCL2L12 | 5 | 2.3 | FAM58A | 4 | 1.9 |
| IDH1 | 5 | 2.3 | ITGA5 | 4 | 1.9 |
| PLCE1 | 5 | 2.3 | NIN | 4 | 1.9 |
| LTN1 | 5 | 2.3 | SPRED1 | 4 | 1.9 |
| MAP2K1 | 4 | 1.9 | OAS3 | 4 | 1.9 |
| RQCD1 | 4 | 1.9 | USP24 | 4 | 1.9 |
| PROS1 | 4 | 1.9 | PTEN | 3 | 1.4 |
| EZH2 | 4 | 1.9 | MME | 3 | 1.4 |
| FRMD4B | 4 | 1.9 | YLPM1 | 3 | 1.4 |
The list shows the top 40 expressed genes with high mutation burdens according to the 20/20 rule12. The rule identifies genes with mutations at recurrent positions that constitute 20% or more of all observed mutations as likely oncogenes (three leftmost columns) and genes with at least 20% inactivating mutations (i.e., premature termination, splice-site variant or indel) as likely tumor suppressors (three rightmost columns). Also shown is the number of samples with qualifying mutations in these genes.