Table 2B.
Somatic mutation profiles in rhabdoid, epithelioid and sarcomatoid components of ccRCC
| Case | Region | Gene | Location | Type |
|---|---|---|---|---|
| E | Rhabdoid | |||
| THBS1 | Exon 4 | SNV | ||
| ROS1 | Splice Site | SNV | ||
| Epithelioid_G2 | ||||
| THBS1 | Exon 4 | SNV | ||
| ROS1 | Splice Site | SNV | ||
| C | Rhabdoid | |||
| VHL | Exon 3 | Indel | ||
| VHL | Exon 3 | SNV | ||
| BAP1 | Exon 14 | Indel | ||
| PTPRD | Exon 46 | SNV | ||
| Epithelioid_G2 | ||||
| VHL | Exon 3 | Indel | ||
| VHL | Exon 3 | SNV | ||
| DPYD | Exon 22 | SNV | ||
| D | Rhabdoid | |||
| SETD2 | Exon 3 | SNV | ||
| Epithelioid_G3 | ||||
| SETD2 | Exon 3 | SNV | ||
| ZNF384 | Exon 6 | Indel | ||
| G | Rhabdoid | |||
| VHL | Exon 3 | SNV | ||
| Epithelioid_G3 | ||||
| VHL | Exon 3 | SNV | ||
| F | Rhabdoid | |||
| PAX8 | Exon 9 | SNV | ||
| TCF12 | Exon 14 | SNV | ||
| CSF1R | Exon 3 | SNV | ||
| PBRM1 | Exon 17 | SNV | ||
| CBL | Exon 11 | SNV | ||
| Epithelioid_G4 | ||||
| TET1 | Exon 4 | SNV | ||
| SETD2 | Exon 3 | SNV | ||
| SETD2 | Exon 3 | SNV | ||
| ERCC5 | Exon 3 | SNV | ||
| H | Rhabdoid | |||
| VHL | Splice Site | SNV | ||
| SETD2 | Exon 16 | SNV | ||
| MLL3 | Exon 16 | SNV | ||
| TET1 | Exon 12 | SNV | ||
| BAP1 | Exon 16 | SNV | ||
| Epithelioid_G3 | ||||
| VHL | Splice Site | SNV | ||
| SMARCA4 | Exon 10 | Indel | ||
| HIF1A | Exon 13 | Indel | ||
| Sarcomatoid | ||||
| VHL | Splice Site | SNV | ||
| MLL3 | Exon 16 | SNV | ||
| BAP1 | Exon 16 | SNV | ||
| SMARCA4 | Exon 10 | Indel | ||
| I | Rhabdoid | |||
| ARID1A | Exon 20 | SNV | ||
| BAP1 | Exon 14 | Indel | ||
| SETD2 | Exon 6 | SNV | ||
| ERCC4 | Exon 11 | SNV | ||
| MYH11 | Exon 4 | SNV | ||
| RNF213 | Exon 29 | SNV | ||
| VHL | Exon 2 | Indel | ||
| PDE4DIP | Exon 15 | SNV | ||
| Epithelioid_G3 | ||||
| ARID1A | Exon 20 | SNV | ||
| VHL | Exon 2 | Indel | ||
| SETD2 | Exon 6 | SNV | ||
| ERCC4 | Exon 11 | SNV | ||
| MYH11 | Exon 4 | SNV | ||
| PDE4DIP | Exon 15 | SNV | ||
| Sarcomatoid | ||||
| ARID1A | Exon 20 | SNV | ||
| BAP1 | Exon 14 | Indel | ||
| SETD2 | Exon 6 | SNV | ||
| VHL | Exon 2 | Indel | ||
| ERCC4 | Exon 11 | SNV | ||
| MYH11 | Exon 4 | SNV | ||
| RNF213 | Exon 29 | SNV | ||
| MTOR | Exon 26 | SNV | ||
| PDE4DIP | Exon 15 | SNV | ||
| J | Rhabdoid | |||
| AFF3 | Exon 19 | SNV | ||
| VHL | Exon 2 | Indel | ||
| SETD2 | Exon 20 | SNV | ||
| PIK3CB | Exon 22 | SNV | ||
| Epithelioid_G2 | ||||
| VHL | Exon 2 | Indel | ||
| SETD2 | Exon 20 | SNV | ||
| PIK3CB | Exon 22 | SNV | ||
| WHSC1 | Exon 17 | SNV | ||
| FGFR4 | Exon 8 | SNV | ||
| DNMT3A | Exon 23 | SNV | ||
| CSMD3 | Exon 7 | SNV | ||
| Sarcomatoid | ||||
| VHL | Exon 2 | Indel | ||
| SETD2 | Exon 20 | SNV | ||
| PIK3CB | Exon 22 | SNV | ||
| ERBB4 | Exon 24 | SNV | ||
| TAF1L | Exon 1 | SNV | ||