Table 2.
Mutation summary of highlighted genes in ccRCC
| Gene | Initial Screen Mutations |
Follow-up Screen Mutations |
Additional RCC cell line mutations* |
Total mutations |
|---|---|---|---|---|
| HIF1A | 1 nonsense | 1 splice/del, 1 frameshift | 3 | |
| JARID1C | 1 nonsense, 1 missense |
5 nonsense, 2 splice/del, 4 frameshift, 1 missense |
14 | |
| MLL2 | 1 nonsense, 2 missense |
9 missense, 1 nonsense, 4 silent | ND | 17 |
| NBN | 1 frameshift | 1 frameshift | ND | 2 |
| NF2 | 3 frameshift, 1 splice | 1 frameshift | 1 nonsense, 1 splice/del |
7 |
| PMS1 | 1 frameshift | 2 nonsense (Germline) | 3 | |
| SETD2 | 4 frameshift, 1 nonsense, 2 missense |
4 frameshift, 3 nonsense, 1 missense |
1 frameshift | 16 |
| UTX | 3 frameshift, 1 splice, 2 missense |
1 frameshift, 1 splice/del, 3 missense, 1 nonsense (Germline) |
12 | |
| WRN | 1 nonsense | 1 splice/frameshift, 1 missense | ND | 3 |
| ZUBR1 | 1 frameshift, 1 missense, 1 silent |
3 frameshift, 4 missense | ND | 10 |
*
no matching normal sequence available, presumptive somatic mutation. ND=not done. Detailed mutation annotation can be found in Supplementary Table 8.