Disease intelligence · mutation landscape
Wilms tumour mutation landscape
How often each gene is altered in wilms tumour, in each sequenced cohort, over the patients on whom it could have been called. Copy number is its own row. Nothing is pooled.
Answer block
In Pediatric Wilms' Tumor (TARGET, 2018) (652 sequenced patients, exome or genome), the most frequently altered of the 45 genes shown are MYCN 12.9% (amplification), SLC75A1 8.87% (amplification), HLA-DRB1 4.84% (amplification), FMN2 4.03% (amplification), IGF2 2.42% (deep deletion). Each figure divides by the patients on whom that gene could be called.
Of the briefing's 12 curated targets, 9 are altered in under 2% of this cohort (WT1, CTNNB1, AMER1, TRIM28, SIX1, SIX2, DROSHA, DGCR8, DICER1): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.
2 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage.
Evidence boundary: frequency here is a count in a named cohort. Whether an alteration is a driver, is actionable, or has a drug is the briefing's question and is not inferred from these numbers.
What is altered, by cohort
One row per alteration, not per gene: a gene that is amplified and rarely mutated (ERBB2, MYCN, EGFR) gets a row for each. Every cell divides by its own denominator — the patients in that cohort on whom that gene could be called. Copy-number rows are shown only where at least one cohort reaches 2%.
| Alteration | wt_target_2018_pub 652 pts · exome or genome | wt_target_gdc 38 pts · exome or genome |
|---|---|---|
| WT1 SNV / small indel | 0.61%4/652 | 5.26%2/38 |
| CTNNB1 SNV / small indel | 1.07%7/652 | 2.63%1/38 |
| AMER1 SNV / small indel | 0.15%1/652 | 2.63%1/38 |
| IGF2 SNV / small indel | 0% | 0% |
| IGF2 deep deletion | 2.42%3/124 | · |
| TRIM28 SNV / small indel | 0% | 0% |
| SIX1 SNV / small indel | 0.61%4/652 | 0% |
| SIX2 SNV / small indel | 0.15%1/652 | 0% |
| DROSHA SNV / small indel | 0.92%6/652 | 2.63%1/38 |
| DGCR8 SNV / small indel | 0.46%3/652 | 0% |
| DICER1 SNV / small indel | 0.15%1/652 | 2.63%1/38 |
| TP53 SNV / small indel | 2.3%15/652 | 34.21%13/38 |
| MYCN SNV / small indel | 0.31%2/652 | 0% |
| MYCN amplification | 12.9%16/124 | · |
| HLA-DQB1 SNV / small indel | 1.07%7/652 | 0% |
| CDK11A SNV / small indel | 0.92%6/652 | 0% |
| TMPRSS13 SNV / small indel | 0.61%4/652 | 0% |
| MAP3K4 SNV / small indel | 0.61%4/652 | 0% |
| ADCK5 SNV / small indel | 0.61%4/652 | 0% |
| ADCK5 deep deletion | 2.42%3/124 | · |
| MADCAM1 SNV / small indel | 0.46%3/652 | 0% |
| AGRN SNV / small indel | 0.46%3/652 | 0% |
| ACTB SNV / small indel | 0.46%3/652 | 2.63%1/38 |
| USP36 SNV / small indel | 0.31%2/652 | 0% |
| SPTBN4 SNV / small indel | 0.31%2/652 | 0% |
| SPTBN4 amplification | 2.42%3/124 | · |
| SLC75A1 SNV / small indel | 0.31%2/652 | 2.63%1/38 |
| SLC75A1 amplification | 8.87%11/124 | · |
| SLC22A1 SNV / small indel | 0.31%2/652 | 0% |
| SALL1 SNV / small indel | 0.31%2/652 | 0% |
| PRUNE2 SNV / small indel | 0.31%2/652 | 0% |
| POLR1G SNV / small indel | 0.31%2/652 | 0% |
| PHLDA1 SNV / small indel | 0.31%2/652 | 0% |
| PHF2 SNV / small indel | 0.31%2/652 | 0% |
| PARD3 SNV / small indel | 0.31%2/652 | 0% |
| PALM2AKAP2 SNV / small indel | 0.31%2/652 | 0% |
| NPC1 SNV / small indel | 0.31%2/652 | 0% |
| NEFH SNV / small indel | 0.31%2/652 | 0% |
| NCOR2 SNV / small indel | 0.31%2/652 | 0% |
| MAX SNV / small indel | 0.31%2/652 | 0% |
| KRTAP10-7 SNV / small indel | 0.31%2/652 | 0% |
| KRI1 SNV / small indel | 0.31%2/652 | 0% |
| IRF5 SNV / small indel | 0.31%2/652 | 0% |
| IRF5 amplification | 2.42%3/124 | · |
| HSD17B4 SNV / small indel | 0.31%2/652 | 0% |
| HLA-DRB1 SNV / small indel | 0.31%2/652 | 0% |
| HLA-DRB1 amplification | 4.84%6/124 | · |
| HLA-DRB1 deep deletion | 4.03%5/124 | · |
| GPRIN1 SNV / small indel | 0.31%2/652 | 0% |
| GIGYF2 SNV / small indel | 0.31%2/652 | 0% |
| FMN2 SNV / small indel | 0.31%2/652 | 0% |
| FMN2 amplification | 4.03%5/124 | · |
| FGFR1 SNV / small indel | 0.31%2/652 | 0% |
| FAM50A SNV / small indel | 0.31%2/652 | 0% |
observed — shade scales with frequency, full at 30% assayed, none found not on this cohort's panel cohort not readable
Key findings
MYCN is amplified in 16 of 124 patients in Pediatric Wilms' Tumor (TARGET, 2018).
SLC75A1 is amplified in 11 of 124 patients in Pediatric Wilms' Tumor (TARGET, 2018).
HLA-DRB1 is amplified in 6 of 124 patients in Pediatric Wilms' Tumor (TARGET, 2018).
Gene table — reference cohort
Headline values are from the reference cohort, wt_target_2018_pub; the matrix above keeps every cohort separate. "Curated" marks a gene the disease briefing lists as a target; the rest are here because they are among the most frequently mutated genes in the reference cohort. Recurrent changes are the reference cohort's commonest protein changes.
| Gene | Why listed | Largest alteration | Altered / tested | Frequency | Without hypermutated | Cohorts observed | Range across cohorts | Recurrent changes |
|---|---|---|---|---|---|---|---|---|
| WT1 | curated target | deep deletion | 2 / 124 | 1.61% mutation 0.61% | — | 2 / 2 | 0.61–5.26% | X367_splice (n=1), K245* (n=1), S381* (n=1), R462W (n=1) |
| CTNNB1 | curated target | SNV / small indel | 7 / 652 | 1.07% | — | 2 / 2 | 1.07–2.63% | S45F (n=1), T41N (n=1), T3N (n=1), E562G (n=1), T41A (n=1) |
| AMER1 | curated target | SNV / small indel | 1 / 652 | 0.15% | — | 2 / 2 | 0.15–2.63% | K166Rfs*4 (n=1) |
| IGF2 | curated target | deep deletion | 3 / 124 | 2.42% mutation 0.0% | — | 0 / 2 | 0.0–0.0% | none recurrent |
| TRIM28 | curated target | deep deletion | 1 / 124 | 0.81% mutation 0.0% | — | 0 / 2 | 0.0–0.0% | none recurrent |
| SIX1 | curated target | deep deletion | 1 / 124 | 0.81% mutation 0.61% | — | 1 / 2 | 0.0–0.61% | Q177R (n=4) |
| SIX2 | curated target | amplification | 2 / 124 | 1.61% mutation 0.15% | — | 1 / 2 | 0.0–0.15% | Q177R (n=1) |
| DROSHA | curated target | SNV / small indel | 6 / 652 | 0.92% | — | 2 / 2 | 0.92–2.63% | E1147K (n=3), D1151G (n=1), Q46* (n=1), R414* (n=1), D1151A (n=1) |
| DGCR8 | curated target | amplification | 1 / 124 | 0.81% mutation 0.46% | — | 1 / 2 | 0.0–0.46% | E518K (n=3) |
| DICER1 | curated target | amplification | 1 / 124 | 0.81% mutation 0.15% | — | 2 / 2 | 0.15–2.63% | Y1874* (n=1), D1709N (n=1) |
| TP53 | curated target | SNV / small indel | 15 / 652 | 2.3% | — | 2 / 2 | 2.3–34.21% | R342P (n=3), R175H (n=3), R248W (n=2), R342* (n=2), R337C (n=1) |
| MYCN | curated target | amplification | 16 / 124 | 12.9% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | P44L (n=2) |
| HLA-DQB1 | by frequency | amplification | 2 / 124 | 1.61% mutation 1.07% | — | 1 / 2 | 0.0–1.07% | G102R (n=4), R199H (n=3), G45A (n=3), F41Y (n=1) |
| CDK11A | by frequency | SNV / small indel | 6 / 652 | 0.92% | — | 1 / 2 | 0.0–0.92% | V97A (n=4), C109R (n=2) |
| TMPRSS13 | by frequency | deep deletion | 1 / 124 | 0.81% mutation 0.61% | — | 1 / 2 | 0.0–0.61% | A77G (n=3), Q78R (n=1), Q83_A87del (n=1) |
| MAP3K4 | by frequency | SNV / small indel | 4 / 652 | 0.61% | — | 1 / 2 | 0.0–0.61% | A1199del (n=2), P639R (n=1), G1366R (n=1) |
| ADCK5 | by frequency | deep deletion | 3 / 124 | 2.42% mutation 0.61% | — | 1 / 2 | 0.0–0.61% | R17S (n=4) |
| MADCAM1 | by frequency | deep deletion | 1 / 124 | 0.81% mutation 0.46% | — | 1 / 2 | 0.0–0.46% | P262Q (n=1), P232S (n=1), S248P (n=1), P246Q (n=1) |
| AGRN | by frequency | SNV / small indel | 3 / 652 | 0.46% | — | 1 / 2 | 0.0–0.46% | P828S (n=1), R1656W (n=1), C901S (n=1) |
| ACTB | by frequency | amplification | 2 / 124 | 1.61% mutation 0.46% | — | 2 / 2 | 0.46–2.63% | G146V (n=1), I282del (n=1), R147L (n=1) |
| USP36 | by frequency | amplification | 1 / 124 | 0.81% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | K959_K960del (n=1), R828C (n=1) |
| SPTBN4 | by frequency | amplification | 3 / 124 | 2.42% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | A2527V (n=1), K2030R (n=1) |
| SLC75A1 | by frequency | amplification | 11 / 124 | 8.87% mutation 0.31% | — | 2 / 2 | 0.31–2.63% | A349T (n=1), G334R (n=1) |
| SLC22A1 | by frequency | SNV / small indel | 2 / 652 | 0.31% | — | 1 / 2 | 0.0–0.31% | F32L (n=1), X426_splice (n=1) |
| SALL1 | by frequency | SNV / small indel | 2 / 652 | 0.31% | — | 1 / 2 | 0.0–0.31% | G160S (n=1), A951T (n=1) |
| PRUNE2 | by frequency | SNV / small indel | 2 / 652 | 0.31% | — | 1 / 2 | 0.0–0.31% | L2714_T2718del (n=2) |
| POLR1G | by frequency | amplification | 2 / 124 | 1.61% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | K428del (n=2) |
| PHLDA1 | by frequency | SNV / small indel | 2 / 652 | 0.31% | — | 1 / 2 | 0.0–0.31% | Q204del (n=2) |
| PHF2 | by frequency | SNV / small indel | 2 / 652 | 0.31% | — | 1 / 2 | 0.0–0.31% | T992_T996dup (n=2) |
| PARD3 | by frequency | amplification | 1 / 124 | 0.81% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | H1087Y (n=1), I125T (n=1) |
| PALM2AKAP2 | by frequency | SNV / small indel | 2 / 652 | 0.31% | — | 1 / 2 | 0.0–0.31% | K513Q (n=2) |
| NPC1 | by frequency | SNV / small indel | 2 / 652 | 0.31% | — | 1 / 2 | 0.0–0.31% | R341C (n=1), X518_splice (n=1) |
| NEFH | by frequency | SNV / small indel | 2 / 652 | 0.31% | — | 1 / 2 | 0.0–0.31% | A652_K657dup (n=2) |
| NCOR2 | by frequency | deep deletion | 1 / 124 | 0.81% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | S1837_G1839dup (n=2) |
| MAX | by frequency | deep deletion | 1 / 124 | 0.81% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | R60Q (n=2) |
| KRTAP10-7 | by frequency | amplification | 1 / 124 | 0.81% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | S50_P54del (n=2) |
| KRI1 | by frequency | SNV / small indel | 2 / 652 | 0.31% | — | 1 / 2 | 0.0–0.31% | T5A (n=1), R219Gfs*6 (n=1) |
| IRF5 | by frequency | amplification | 3 / 124 | 2.42% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | R191_L200del (n=2) |
| HSD17B4 | by frequency | amplification | 1 / 124 | 0.81% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | R659C (n=1), R131H (n=1) |
| HLA-DRB1 | by frequency | amplification | 6 / 124 | 4.84% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | Y61H (n=1), Q178H (n=1) |
| GPRIN1 | by frequency | SNV / small indel | 2 / 652 | 0.31% | — | 1 / 2 | 0.0–0.31% | D234Efs*44 (n=1), R231Sfs*238 (n=1), E233V (n=1) |
| GIGYF2 | by frequency | amplification | 1 / 124 | 0.81% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | Q1237del (n=1), Q1005del (n=1) |
| FMN2 | by frequency | amplification | 5 / 124 | 4.03% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | P958L (n=1), G59del (n=1) |
| FGFR1 | by frequency | SNV / small indel | 2 / 652 | 0.31% | — | 1 / 2 | 0.0–0.31% | K687E (n=1), N577K (n=1) |
| FAM50A | by frequency | amplification | 1 / 124 | 0.81% mutation 0.31% | — | 1 / 2 | 0.0–0.31% | R180Q (n=1), R273Q (n=1) |
Cohorts
Listed in the disease profile, not searched: a name search returns the same patients under several accessions. Patients are unique patient ids in the study's sequenced sample list. Hypermutated: more than ten times the cohort's median non-silent mutations per sample, and at least 100.
| Cohort | Accession | Patients | Samples sequenced / in study | Assay | Panels (samples) | Build | Profiles read | Hypermutated patients | Median mutations / sample |
|---|---|---|---|---|---|---|---|---|---|
| Pediatric Wilms' Tumor (TARGET, 2018) reference | wt_target_2018_pub | 652 observed | 657 / 657 | exome or genome | WES (657) | hg19 | SNV, small indel, amplification, deep deletion | 0 | 0 |
| Wilms' Tumor (TARGET GDC, 2025) | wt_target_gdc | 38 observed | 42 / 132 | exome or genome | WES (42) | hg38 | SNV, small indel | 0 | 6.0 |
Copy-number events
Discrete calls from each study's copy-number profile: 2 is high-level amplification, −2 deep deletion. Gains and shallow losses are not counted. Denominators are the cohort's copy-number sample list, which differs from its sequenced list. Rows at 2% or more.
| Gene | Event | Observed patients | Tested patients | Frequency | Cohort | Profile |
|---|---|---|---|---|---|---|
| MYCN | amplification | 16 | 124 | 12.9% | wt_target_2018_pub | wt_target_2018_pub_gistic |
| SLC75A1 | amplification | 11 | 124 | 8.87% | wt_target_2018_pub | wt_target_2018_pub_gistic |
| HLA-DRB1 | amplification | 6 | 124 | 4.84% | wt_target_2018_pub | wt_target_2018_pub_gistic |
| HLA-DRB1 | deep deletion | 5 | 124 | 4.03% | wt_target_2018_pub | wt_target_2018_pub_gistic |
| FMN2 | amplification | 5 | 124 | 4.03% | wt_target_2018_pub | wt_target_2018_pub_gistic |
| IGF2 | deep deletion | 3 | 124 | 2.42% | wt_target_2018_pub | wt_target_2018_pub_gistic |
| ADCK5 | deep deletion | 3 | 124 | 2.42% | wt_target_2018_pub | wt_target_2018_pub_gistic |
| SPTBN4 | amplification | 3 | 124 | 2.42% | wt_target_2018_pub | wt_target_2018_pub_gistic |
| IRF5 | amplification | 3 | 124 | 2.42% | wt_target_2018_pub | wt_target_2018_pub_gistic |
Cohort-aware frequencies
Each row is calculated from unique patients in that study's sequenced sample list. The range is descriptive; no pooled estimate is shown because cross-study overlap and assay comparability have not been checked.
| Gene | Range | Per cohort (altered / tested) |
|---|---|---|
| WT1 | 0.61–5.26% | wt_target_2018_pub: 4/652 (0.61%) · wt_target_gdc: 2/38 (5.26%) |
| CTNNB1 | 1.07–2.63% | wt_target_2018_pub: 7/652 (1.07%) · wt_target_gdc: 1/38 (2.63%) |
| AMER1 | 0.15–2.63% | wt_target_2018_pub: 1/652 (0.15%) · wt_target_gdc: 1/38 (2.63%) |
| IGF2 | 0.0–0.0% | wt_target_2018_pub: 0/652 (0.0%) · wt_target_gdc: 0/38 (0.0%) |
| TRIM28 | 0.0–0.0% | wt_target_2018_pub: 0/652 (0.0%) · wt_target_gdc: 0/38 (0.0%) |
| SIX1 | 0.0–0.61% | wt_target_2018_pub: 4/652 (0.61%) · wt_target_gdc: 0/38 (0.0%) |
| SIX2 | 0.0–0.15% | wt_target_2018_pub: 1/652 (0.15%) · wt_target_gdc: 0/38 (0.0%) |
| DROSHA | 0.92–2.63% | wt_target_2018_pub: 6/652 (0.92%) · wt_target_gdc: 1/38 (2.63%) |
| DGCR8 | 0.0–0.46% | wt_target_2018_pub: 3/652 (0.46%) · wt_target_gdc: 0/38 (0.0%) |
| DICER1 | 0.15–2.63% | wt_target_2018_pub: 1/652 (0.15%) · wt_target_gdc: 1/38 (2.63%) |
| TP53 | 2.3–34.21% | wt_target_2018_pub: 15/652 (2.3%) · wt_target_gdc: 13/38 (34.21%) |
| MYCN | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| HLA-DQB1 | 0.0–1.07% | wt_target_2018_pub: 7/652 (1.07%) · wt_target_gdc: 0/38 (0.0%) |
| CDK11A | 0.0–0.92% | wt_target_2018_pub: 6/652 (0.92%) · wt_target_gdc: 0/38 (0.0%) |
| TMPRSS13 | 0.0–0.61% | wt_target_2018_pub: 4/652 (0.61%) · wt_target_gdc: 0/38 (0.0%) |
| MAP3K4 | 0.0–0.61% | wt_target_2018_pub: 4/652 (0.61%) · wt_target_gdc: 0/38 (0.0%) |
| ADCK5 | 0.0–0.61% | wt_target_2018_pub: 4/652 (0.61%) · wt_target_gdc: 0/38 (0.0%) |
| MADCAM1 | 0.0–0.46% | wt_target_2018_pub: 3/652 (0.46%) · wt_target_gdc: 0/38 (0.0%) |
| AGRN | 0.0–0.46% | wt_target_2018_pub: 3/652 (0.46%) · wt_target_gdc: 0/38 (0.0%) |
| ACTB | 0.46–2.63% | wt_target_2018_pub: 3/652 (0.46%) · wt_target_gdc: 1/38 (2.63%) |
| USP36 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| SPTBN4 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| SLC75A1 | 0.31–2.63% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 1/38 (2.63%) |
| SLC22A1 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| SALL1 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| PRUNE2 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| POLR1G | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| PHLDA1 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| PHF2 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| PARD3 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| PALM2AKAP2 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| NPC1 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| NEFH | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| NCOR2 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| MAX | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| KRTAP10-7 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| KRI1 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| IRF5 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| HSD17B4 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| HLA-DRB1 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| GPRIN1 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| GIGYF2 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| FMN2 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| FGFR1 | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
| FAM50A | 0.0–0.31% | wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%) |
What this page does not do
Structural variants
Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases.
Context
Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four.
Interpretation
Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts.
Limitations
- A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.
- Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.
- For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.
- Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.
- Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.
- Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.
- The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide.
How a machine should read this page
- Denominators: every frequency divides by the patients in one named cohort on whom the gene could be called; there is no disease-wide figure.
- Missing values:
not_assayed(the panel did not carry the gene),not_observed(assayed, none found) andnot_evaluable(the cohort could not be read) are three different facts and are never converted to zero. - Counting: patients, not samples; several samples from one patient count once. Non-silent calls only.
- Copy number: a separate assay with a separate roster; discrete calls at ±2 only.
- Hypermutation: flagged per cohort; the headline keeps all patients and the frequency without them is reported beside it.
- Provenance: every value carries the study id, the retrieval date and the processing version; the source is the cBioPortal public API.
Machine endpoints: full landscape · genes · cohorts · the disease's own facts: /disease/wilms-tumor.json.
Built by the BioTransfer briefings pipeline from the cBioPortal public API. The neuroblastoma page was assembled by hand and set the rules this page follows; how these are built.