{"disease": {"name": "Kidney cancer", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "ccrcc"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 3, "cohort_count_status": "observed", "cohort_count_unit": "cohorts", "evaluable_patients": null, "evaluable_patients_status": "unknown", "evaluable_patients_unit": "patients", "alteration_types": ["SNV", "small indel", "amplification", "deep deletion"], "genes": [{"gene": "VHL", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 166, "tested": 402, "frequency": 41.29, "cohort_count": 3, "frequency_range": {"min": 1.09, "max": 67.13}, "major_variants": ["X155_splice (n=12)", "X114_splice (n=6)", "H115N (n=4)", "W117Gfs*42 (n=3)", "T124Hfs*35 (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 166/402 patients (41.29%).", "Without the 1 hypermutated patients: 166/401 (41.4%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 166, "tested": 402, "frequency": 41.29, "frequency_excl_hypermutated": 41.4, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 276, "frequency": 1.09, "frequency_excl_hypermutated": 1.09, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "altered": 633, "tested": 943, "frequency": 67.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.63, "width": 96.37, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 166, "tested": 402, "frequency": 41.29, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "HIF1A", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 402, "frequency": 1.0, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 1.0}, "major_variants": ["Q320L (n=1)", "C337* (n=1)", "X698_splice (n=1)", "L54I (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 4/402 patients (1.0%).", "Without the 1 hypermutated patients: 4/401 (1.0%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 402, "frequency": 1.0, "frequency_excl_hypermutated": 1.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 276, "frequency": 0.72, "frequency_excl_hypermutated": 0.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "altered": 0, "tested": 943, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 3.33, "reference": 3.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 402, "frequency": 1.0, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EPAS1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 2, "tested": 402, "frequency": 0.5, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 1.09}, "major_variants": ["V846Efs*55 (n=1)", "D508N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 2/402 patients (0.5%).", "Without the 1 hypermutated patients: 2/401 (0.5%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 402, "frequency": 0.5, "frequency_excl_hypermutated": 0.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 276, "frequency": 1.09, "frequency_excl_hypermutated": 1.09, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "altered": 0, "tested": 943, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 3.63, "reference": 1.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 402, "frequency": 0.5, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PBRM1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 144, "tested": 402, "frequency": 35.82, "cohort_count": 3, "frequency_range": {"min": 4.35, "max": 35.82}, "major_variants": ["E1197Kfs*5 (n=2)", "X363_splice (n=2)", "D748Mfs*27 (n=2)", "X332_splice (n=2)", "X239_splice (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 144/402 patients (35.82%).", "Without the 1 hypermutated patients: 144/401 (35.91%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 144, "tested": 402, "frequency": 35.82, "frequency_excl_hypermutated": 35.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 12, "tested": 276, "frequency": 4.35, "frequency_excl_hypermutated": 4.36, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "altered": 318, "tested": 943, "frequency": 33.72, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.5, "width": 85.5, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 144, "tested": 402, "frequency": 35.82, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SETD2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 48, "tested": 402, "frequency": 11.94, "cohort_count": 3, "frequency_range": {"min": 6.16, "max": 15.48}, "major_variants": ["W1782* (n=2)", "P1822Qfs*16 (n=1)", "R2510H (n=1)", "X2413_splice (n=1)", "K2545* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 48/402 patients (11.94%).", "Without the 1 hypermutated patients: 47/401 (11.72%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 48, "tested": 402, "frequency": 11.94, "frequency_excl_hypermutated": 11.72, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 17, "tested": 276, "frequency": 6.16, "frequency_excl_hypermutated": 6.18, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "altered": 146, "tested": 943, "frequency": 15.48, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.53, "width": 31.07, "reference": 39.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 48, "tested": 402, "frequency": 11.94, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "BAP1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 38, "tested": 402, "frequency": 9.45, "cohort_count": 3, "frequency_range": {"min": 5.07, "max": 11.98}, "major_variants": ["M1? (n=3)", "N78S (n=2)", "X23_splice (n=2)", "X41_splice (n=2)", "K659del (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 38/402 patients (9.45%).", "Without the 1 hypermutated patients: 38/401 (9.48%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 38, "tested": 402, "frequency": 9.45, "frequency_excl_hypermutated": 9.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 14, "tested": 276, "frequency": 5.07, "frequency_excl_hypermutated": 4.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "altered": 113, "tested": 943, "frequency": 11.98, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.9, "width": 23.03, "reference": 31.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 38, "tested": 402, "frequency": 9.45, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KDM5C", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 20, "tested": 402, "frequency": 4.98, "cohort_count": 3, "frequency_range": {"min": 1.81, "max": 7.1}, "major_variants": ["R390L (n=1)", "E433Gfs*4 (n=1)", "E1152Kfs*112 (n=1)", "X321_splice (n=1)", "G536W (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 20/402 patients (4.98%).", "Without the 1 hypermutated patients: 20/401 (4.99%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 20, "tested": 402, "frequency": 4.98, "frequency_excl_hypermutated": 4.99, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 5, "tested": 276, "frequency": 1.81, "frequency_excl_hypermutated": 1.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "altered": 67, "tested": 943, "frequency": 7.1, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.03, "width": 17.64, "reference": 16.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 402, "frequency": 4.98, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MTOR", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 31, "tested": 402, "frequency": 7.71, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 7.71}, "major_variants": ["T1977R (n=3)", "L1460P (n=2)", "C1483F (n=2)", "M2327I (n=1)", "R619C (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 31/402 patients (7.71%).", "Without the 1 hypermutated patients: 30/401 (7.48%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 31, "tested": 402, "frequency": 7.71, "frequency_excl_hypermutated": 7.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 4, "tested": 276, "frequency": 1.45, "frequency_excl_hypermutated": 1.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "altered": 0, "tested": 943, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 25.7, "reference": 25.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 31, "tested": 402, "frequency": 7.71, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KDR", "alteration_types": ["SNV / small indel", "amplification"], "altered": 5, "tested": 402, "frequency": 1.24, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 1.24}, "major_variants": ["I456S (n=1)", "G1108W (n=1)", "L289* (n=1)", "R1051Q (n=1)", "T761R (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 5/402 patients (1.24%).", "Without the 1 hypermutated patients: 5/401 (1.25%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 5, "tested": 402, "frequency": 1.24, "frequency_excl_hypermutated": 1.25, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 276, "frequency": 1.09, "frequency_excl_hypermutated": 1.09, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "altered": 0, "tested": 943, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 4.13, "reference": 4.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 402, "frequency": 1.24, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MET", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, 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"ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 3/402 patients (0.75%).", "Without the 1 hypermutated patients: 3/401 (0.75%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 402, "frequency": 0.75, "frequency_excl_hypermutated": 0.75, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 22, "tested": 276, "frequency": 7.97, "frequency_excl_hypermutated": 8.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "altered": 0, "tested": 943, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 26.57, 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null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 1/402 patients (0.25%).", "Without the 1 hypermutated patients: 1/401 (0.25%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 402, "frequency": 0.25, "frequency_excl_hypermutated": 0.25, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 0, "tested": 276, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal 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{"min": 0.0, "max": 0.36}, "major_variants": ["P216R (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public 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"patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 1/402 patients (0.25%).", "Without the 1 hypermutated patients: 1/401 (0.25%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 402, "frequency": 0.25, "frequency_excl_hypermutated": 0.25, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", "coverage_note": null, "source_id": "kirc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 1, "tested": 276, "frequency": 0.36, "frequency_excl_hypermutated": 0.36, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "276/283", "coverage_note": null, "source_id": "kirp_tcga_pan_can_atlas_2018", "is_reference": false}, {"cohort": "ccrcc_sjuh_2023", "cohort_name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "altered": 0, "tested": 943, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.2, "reference": 0.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 402, "frequency": 0.25, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2C", "alteration_types": ["SNV / small indel", "amplification"], "altered": 15, "tested": 402, "frequency": 3.73, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 6.88}, "major_variants": ["V1881L (n=1)", "Q3061K (n=1)", "D1371Ifs*3 (n=1)", "S1086Vfs*31 (n=1)", "P2163H (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 15/402 patients (3.73%).", "Without the 1 hypermutated patients: 14/401 (3.49%).", "Observed in 2 of 3 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"normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 14/402 patients (3.48%).", "Without the 1 hypermutated patients: 13/401 (3.24%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "cohort_name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 14, "tested": 402, "frequency": 3.48, "frequency_excl_hypermutated": 3.24, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "402/512", 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"genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas), 10/402 patients (2.49%).", "Without the 1 hypermutated patients: 10/401 (2.49%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": 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null, "evaluable": true, "coverage": "943/943", "coverage_note": null, "source_id": "ccrcc_sjuh_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.3, "reference": 8.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 402, "frequency": 2.49, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ADAMTS12", "alteration_types": ["SNV / small indel", "amplification"], "altered": 10, "tested": 402, "frequency": 2.49, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 2.49}, "major_variants": ["M275I (n=1)", "T203Pfs*8 (n=1)", "P1139S (n=1)", "A888V (n=1)", "F282Y (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most 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"copy_number", "gene": "SETD2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SETD2 deep deletion", "genomic_coordinate": null, "observed": 14, "observed_status": "observed", "observed_unit": "patients", "tested": 509, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.75, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["kirc_tcga_pan_can_atlas_2018"], "source_ids": ["kirc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "VHL", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "VHL deep deletion", "genomic_coordinate": null, "observed": 13, "observed_status": "observed", "observed_unit": "patients", "tested": 509, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.55, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["kirc_tcga_pan_can_atlas_2018"], "source_ids": ["kirc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "BAP1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "BAP1 deep deletion", "genomic_coordinate": null, "observed": 13, "observed_status": "observed", "observed_unit": "patients", "tested": 509, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.55, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["kirc_tcga_pan_can_atlas_2018"], "source_ids": ["kirc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 3, "total_cohorts": 3}, {"modality": "Copy number (discrete)", "available_cohorts": 2, "total_cohorts": 3}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 3}], "chromosome_summary": [], "cohorts": [{"name": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source": "cBioPortal", "accession": "kirc_tcga_pan_can_atlas_2018", "patients": {"value": 402, "status": "observed", "unit": "patients"}, "samples": {"value": 402, "status": "observed", "unit": "samples"}, "disease_subtype": "Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (402)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 402, "patients_in_roster": 402, "frequencies_computed": true, "samples_sequenced": 402, "samples_in_study": 512, "hypermutated_patients": 1, "median_mutations_per_sample": 48.0, "reason": null}}, {"name": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source": "cBioPortal", "accession": "kirp_tcga_pan_can_atlas_2018", "patients": {"value": 276, "status": "observed", "unit": "patients"}, "samples": {"value": 276, "status": "observed", "unit": "samples"}, "disease_subtype": "Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (276)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 276, "patients_in_roster": 276, "frequencies_computed": true, "samples_sequenced": 276, "samples_in_study": 283, "hypermutated_patients": 1, "median_mutations_per_sample": 62.0, "reason": null}}, {"name": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source": "cBioPortal", "accession": "ccrcc_sjuh_2023", "patients": {"value": 943, "status": "observed", "unit": "patients"}, "samples": {"value": 943, "status": "observed", "unit": "samples"}, "disease_subtype": "Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "assay_type": "exome or genome", "sequencing_method": "WES (943)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "ccrcc_sjuh_2023", "is_demo": false, "assay_coverage": {"patients_with_calls": 943, "patients_in_roster": 943, "frequencies_computed": true, "samples_sequenced": 943, "samples_in_study": 943, "hypermutated_patients": 0, "median_mutations_per_sample": 1, "reason": null}}], "sources": [{"source_name": "cBioPortal · Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018", "source_record_id": "kirc_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018", "source_record_id": "kirp_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Renal Cell Carcinoma (St. James, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ccrcc_sjuh_2023", "source_record_id": "ccrcc_sjuh_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "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."], "answer_block": ["In Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas) (402 sequenced patients, exome or genome), the most frequently altered of the 46 genes shown are VHL 41.29%, PBRM1 35.82%, SETD2 11.94%, BAP1 9.45%, MTOR 7.71%. Each figure divides by the patients on whom that gene could be called.", "1 of 402 patients are hypermutated (more than 480 non-silent mutations, ten times the cohort median of 48); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 6 are altered in under 2% of this cohort (HIF1A, EPAS1, KDR, MET, CD274, CA9): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "3 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "VHL is mutated in 166 of 402 patients in Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas).", "numerator": 166, "denominator": 402, "frequency": 41.29, "cohorts": 3, "evidence_confidence": "moderate", "source": "kirc_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "PBRM1 is mutated in 144 of 402 patients in Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas).", "numerator": 144, "denominator": 402, "frequency": 35.82, "cohorts": 3, "evidence_confidence": "moderate", "source": "kirc_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "SETD2 is mutated in 48 of 402 patients in Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas).", "numerator": 48, "denominator": 402, "frequency": 11.94, "cohorts": 3, "evidence_confidence": "moderate", "source": "kirc_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}], "research_gaps": [{"kind": "Structural variants", "text": "Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases."}, {"kind": "Context", "text": "Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four."}, {"kind": "Interpretation", "text": "Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts."}], "observations": [], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "kirc_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "VHL", "kind": "SNV / small indel", "gene": "VHL", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 41.29, "altered": 166, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.09, "altered": 3, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "observed", "frequency": 67.13, "altered": 633, "tested": 943, "note": null}]}, {"label": "VHL", "kind": "deep deletion", "gene": "VHL", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.55, "altered": 13, "tested": 509, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 283, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ccrcc_sjuh_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "HIF1A", "kind": "SNV / small indel", "gene": "HIF1A", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.0, "altered": 4, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.72, "altered": 2, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 943, "note": null}]}, {"label": "EPAS1", "kind": "SNV / small indel", "gene": "EPAS1", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.5, "altered": 2, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.09, "altered": 3, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 943, "note": null}]}, {"label": "PBRM1", "kind": "SNV / small indel", "gene": "PBRM1", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 35.82, "altered": 144, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.35, "altered": 12, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "observed", "frequency": 33.72, "altered": 318, "tested": 943, "note": null}]}, {"label": "PBRM1", "kind": "deep deletion", "gene": "PBRM1", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.75, "altered": 14, "tested": 509, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.35, "altered": 1, "tested": 283, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ccrcc_sjuh_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "SETD2", "kind": "SNV / small indel", "gene": "SETD2", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.94, "altered": 48, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.16, "altered": 17, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "observed", "frequency": 15.48, "altered": 146, "tested": 943, "note": null}]}, {"label": "SETD2", "kind": "deep deletion", "gene": "SETD2", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.75, "altered": 14, "tested": 509, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 283, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ccrcc_sjuh_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "BAP1", "kind": "SNV / small indel", "gene": "BAP1", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.45, "altered": 38, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.07, "altered": 14, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "observed", "frequency": 11.98, "altered": 113, "tested": 943, "note": null}]}, {"label": "BAP1", "kind": "deep deletion", "gene": "BAP1", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.55, "altered": 13, "tested": 509, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.35, "altered": 1, "tested": 283, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ccrcc_sjuh_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "KDM5C", "kind": "SNV / small indel", "gene": "KDM5C", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.98, "altered": 20, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.81, "altered": 5, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "observed", "frequency": 7.1, "altered": 67, "tested": 943, "note": null}]}, {"label": "MTOR", "kind": "SNV / small indel", "gene": "MTOR", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.71, "altered": 31, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.45, "altered": 4, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 943, "note": null}]}, {"label": "KDR", "kind": "SNV / small indel", "gene": "KDR", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.24, "altered": 5, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.09, "altered": 3, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 943, "note": null}]}, {"label": "MET", "kind": "SNV / small indel", "gene": "MET", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.75, "altered": 3, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.97, "altered": 22, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 943, "note": null}]}, {"label": "CD274", "kind": "SNV / small indel", "gene": "CD274", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.25, "altered": 1, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 943, "note": null}]}, {"label": "CA9", "kind": "SNV / small indel", "gene": "CA9", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.25, "altered": 1, "tested": 402, "note": null}, {"cohort": "kirp_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.36, "altered": 1, "tested": 276, "note": null}, {"cohort": "ccrcc_sjuh_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 943, "note": null}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "kirc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.73, "altered": 15, "tested": 402, "note": null}, {"cohort": 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