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Genomics
2 cohorts mapped to this entity or its descendants. Each frequency is affected / profiled within one cohort; cohorts are shown separately because case selection, sequencing depth and definitions differ. By default the cohort with the most cases profiled is shown.
14 cases with simple somatic mutation data · 14 cases total · 2026-01-16 · mapped to Retinoblastoma EXACT_IDENTIFIER
| # | Gene | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Source |
|---|---|---|---|---|---|---|
| 1 | RB1 | Ssm | 14 | 14 | 100% | cbioportal |
| 2 | MYCN | Ssm | 9 | 14 | 64.3% | cbioportal |
Data updated 22 days agoSource updated 2026-01-16
83 cases with simple somatic mutation data · 83 cases total · 2026-01-16 · mapped to Retinoblastoma EXACT_IDENTIFIER
| # | Gene | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Source |
|---|---|---|---|---|---|---|
| 1 | RB1 | Ssm |
Cohorts mapped to a descendant (e.g. a subtype) are included because their cases belong to this entity by definition; the mapping and its match type are shown per cohort.
| 52 |
| 83 |
| 62.7% |
| cbioportal |
| 2 | BCOR | Ssm | 14 | 83 | 16.9% | cbioportal |
| 7 | ZFHX3 | Ssm | 3 | 83 | 3.6% | cbioportal |
| 5 | FAT1 | Ssm | 3 | 83 | 3.6% | cbioportal |
| 6 | RPTOR | Ssm | 3 | 83 | 3.6% | cbioportal |
| 4 | BRD4 | Ssm | 3 | 83 | 3.6% | cbioportal |
| 3 | ARID1A | Ssm | 3 | 83 | 3.6% | cbioportal |
| 13 | MSH3 | Ssm | 2 | 78 | 2.6% | cbioportal |
| 19 | PREX2 | Ssm | 2 | 78 | 2.6% | cbioportal |
| 17 | POLD1 | Ssm | 2 | 83 | 2.4% | cbioportal |
| 8 | ARID1B | Ssm | 2 | 83 | 2.4% | cbioportal |
| 9 | HLA-A | Ssm | 2 | 83 | 2.4% | cbioportal |
| 10 | KMT2C | Ssm | 2 | 83 | 2.4% | cbioportal |
| 20 | TERT | Ssm | 2 | 83 | 2.4% | cbioportal |
| 14 | NCOA3 | Ssm | 2 | 83 | 2.4% | cbioportal |
| 12 | MAP3K1 | Ssm | 2 | 83 | 2.4% | cbioportal |
| 15 | NSD1 | Ssm | 2 | 83 | 2.4% | cbioportal |
| 16 | PIK3CD | Ssm | 2 | 83 | 2.4% | cbioportal |
| 18 | POLE | Ssm | 2 | 83 | 2.4% | cbioportal |
| 11 | KMT2D | Ssm | 2 | 83 | 2.4% | cbioportal |
| 66 | RAC2 | Ssm | 1 | 78 | 1.3% | cbioportal |
| 25 | BABAM1 | Ssm | 1 | 78 | 1.3% | cbioportal |
| 74 | TEK | Ssm | 1 | 78 | 1.3% | cbioportal |
| 76 | TP53BP1 | Ssm | 1 | 78 | 1.3% | cbioportal |
| 63 | PRKD1 | Ssm | 1 | 78 | 1.3% | cbioportal |
| 67 | RRAGC | Ssm | 1 | 78 | 1.3% | cbioportal |
| 68 | RTEL1 | Ssm | 1 | 78 | 1.3% | cbioportal |
| 78 | WHR1 | Ssm | 1 | 78 | 1.3% | cbioportal |
| 30 | CARM1 | Ssm | 1 | 78 | 1.3% | cbioportal |
| 61 | PIK3C2G | Ssm | 1 | 83 | 1.2% | cbioportal |
Data updated 22 days agoSource updated 2026-01-16