{"disease": {"name": "Uveal melanoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "um"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 2, "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": "GNAQ", "alteration_types": ["SNV / small indel"], "altered": 40, "tested": 80, "frequency": 50.0, "cohort_count": 2, "frequency_range": {"min": 30.77, "max": 50.0}, "major_variants": ["Q209P (n=27)", "Q209L (n=10)", "R183Q (n=2)", "G48* (n=1)", "G48V (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 40/80 patients (50.0%).", "Without the 1 hypermutated patients: 39/79 (49.37%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 40, "tested": 80, "frequency": 50.0, "frequency_excl_hypermutated": 49.37, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 8, "tested": 26, "frequency": 30.77, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 40, "tested": 80, "frequency": 50.0, "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": "GNA11", "alteration_types": ["SNV / small indel", "amplification"], "altered": 36, "tested": 80, "frequency": 45.0, "cohort_count": 2, "frequency_range": {"min": 45.0, "max": 57.69}, "major_variants": ["Q209L (n=34)", "R166H (n=1)", "R183C (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 36/80 patients (45.0%).", "Without the 1 hypermutated patients: 35/79 (44.3%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 36, "tested": 80, "frequency": 45.0, "frequency_excl_hypermutated": 44.3, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 15, "tested": 26, "frequency": 57.69, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 36, "tested": 80, "frequency": 45.0, "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": "BAP1", "alteration_types": ["SNV / small indel"], "altered": 13, "tested": 80, "frequency": 16.25, "cohort_count": 2, "frequency_range": {"min": 16.25, "max": 42.31}, "major_variants": ["Y223* (n=1)", "D672Afs*17 (n=1)", "E685V (n=1)", "Q441* (n=1)", "Q40* (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 13/80 patients (16.25%).", "Without the 1 hypermutated patients: 13/79 (16.46%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 13, "tested": 80, "frequency": 16.25, "frequency_excl_hypermutated": 16.46, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 11, "tested": 26, "frequency": 42.31, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 54.17, "width": 45.83, "reference": 54.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 80, "frequency": 16.25, "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": "SF3B1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 18, "tested": 80, "frequency": 22.5, "cohort_count": 2, "frequency_range": {"min": 11.54, "max": 22.5}, "major_variants": ["R625H (n=8)", "R625C (n=6)", "K666T (n=2)", "T663P (n=1)", "H662R (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 18/80 patients (22.5%).", "Without the 1 hypermutated patients: 17/79 (21.52%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 18, "tested": 80, "frequency": 22.5, "frequency_excl_hypermutated": 21.52, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 3, "tested": 26, "frequency": 11.54, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 38.47, "width": 36.53, "reference": 75.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 80, "frequency": 22.5, "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": "EIF1AX", "alteration_types": ["SNV / small indel"], "altered": 10, "tested": 80, "frequency": 12.5, "cohort_count": 2, "frequency_range": {"min": 12.5, "max": 15.38}, "major_variants": ["G8R (n=2)", "G15D (n=2)", "G6D (n=2)", "W70R (n=1)", "G9D (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 10/80 patients (12.5%).", "Without the 1 hypermutated patients: 10/79 (12.66%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 10, "tested": 80, "frequency": 12.5, "frequency_excl_hypermutated": 12.66, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 4, "tested": 26, "frequency": 15.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 41.67, "width": 9.6, "reference": 41.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 80, "frequency": 12.5, "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": "CYSLTR2", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 80, "frequency": 3.75, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 3.75}, "major_variants": ["L129Q (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 3/80 patients (3.75%).", "Without the 1 hypermutated patients: 3/79 (3.8%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 80, "frequency": 3.75, "frequency_excl_hypermutated": 3.8, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 0, "tested": 26, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 12.5, "reference": 12.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 80, "frequency": 3.75, "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": "PLCB4", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 80, "frequency": 2.5, "cohort_count": 2, "frequency_range": {"min": 2.5, "max": 7.69}, "major_variants": ["D630V (n=1)", "D630Y (n=1)", "D630N (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 2/80 patients (2.5%).", "Without the 1 hypermutated patients: 1/79 (1.27%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 80, "frequency": 2.5, "frequency_excl_hypermutated": 1.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 2, "tested": 26, "frequency": 7.69, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.33, "width": 17.3, "reference": 8.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 80, "frequency": 2.5, "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": "PMEL", "alteration_types": [], "altered": 0, "tested": 80, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 0/80 patients (0.0%).", "Without the 1 hypermutated patients: 0/79 (0.0%).", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and 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indel", "altered": 0, "tested": 80, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "MET", "alteration_types": [], "altered": 0, "tested": 80, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: 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"coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 80, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "MITF", "alteration_types": [], "altered": 0, "tested": 80, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 0/80 patients (0.0%).", "Without the 1 hypermutated patients: 0/79 (0.0%).", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 0, "tested": 80, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 0, "tested": 26, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 80, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "PRKCA", "alteration_types": ["amplification", "deep deletion"], "altered": 0, "tested": 80, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 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frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 0, "tested": 80, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 0, "tested": 26, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.17, "width": 1.0, "reference": 4.17, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 80, "frequency": 1.25, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "MBD4", "alteration_types": [], "altered": 0, "tested": 80, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "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 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own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Uveal Melanoma (TCGA, PanCancer Atlas), 0/80 patients (0.0%).", "Without the 1 hypermutated patients: 0/79 (0.0%).", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 0, "tested": 80, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 0, "tested": 26, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 80, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "SRSF2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 80, "frequency": 3.75, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 3.75}, "major_variants": ["Y92_H99del (n=1)", "Y92_H100del (n=1)", "S174_S179del (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 3/80 patients (3.75%).", "Without the 1 hypermutated patients: 3/79 (3.8%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 80, "frequency": 3.75, "frequency_excl_hypermutated": 3.8, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 0, "tested": 26, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 12.5, "reference": 12.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 80, "frequency": 3.75, "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": "MYOF", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 80, "frequency": 3.75, "cohort_count": 2, "frequency_range": {"min": 3.75, "max": 3.85}, "major_variants": ["V224I (n=1)", "M1213L (n=1)", "R1025* (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 3/80 patients (3.75%).", "Without the 1 hypermutated patients: 2/79 (2.53%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 80, "frequency": 3.75, "frequency_excl_hypermutated": 2.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 1, "tested": 26, "frequency": 3.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.5, "width": 1.0, "reference": 12.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 80, "frequency": 3.75, "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": "COL14A1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 80, "frequency": 3.75, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 3.75}, "major_variants": ["T527M (n=1)", "E613G (n=1)", "V317I (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 3/80 patients (3.75%).", "Without the 1 hypermutated patients: 3/79 (3.8%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 80, "frequency": 3.75, "frequency_excl_hypermutated": 3.8, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 0, "tested": 26, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 12.5, "reference": 12.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 80, "frequency": 3.75, "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": "UTRN", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 80, "frequency": 2.5, "cohort_count": 2, "frequency_range": {"min": 2.5, "max": 3.85}, "major_variants": ["R2871K (n=1)", "A1530T (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 2/80 patients (2.5%).", "Without the 1 hypermutated patients: 1/79 (1.27%).", "Largest alteration is deep deletion: 6/80 (7.5%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and 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null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 0, "tested": 26, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.33, "reference": 8.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 80, "frequency": 2.5, "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": "TNS3", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 80, "frequency": 2.5, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.5}, "major_variants": ["G275A (n=1)", "P1243L (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 · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 2/80 patients (2.5%).", "Without the 1 hypermutated patients: 1/79 (1.27%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 80, "frequency": 2.5, "frequency_excl_hypermutated": 1.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 0, "tested": 26, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.33, "reference": 8.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 80, "frequency": 2.5, "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": "TMEM39A", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 80, "frequency": 2.5, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.5}, "major_variants": ["F193Y (n=1)", "L322V (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 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"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: Uveal Melanoma (TCGA, PanCancer Atlas), 2/80 patients (2.5%).", "Without the 1 hypermutated patients: 2/79 (2.53%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 80, "frequency": 2.5, "frequency_excl_hypermutated": 2.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal 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"source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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}], 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"source_record_id": "um_qimr_2016", "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: Uveal Melanoma (TCGA, PanCancer Atlas), 2/80 patients (2.5%).", "Without the 1 hypermutated patients: 1/79 (1.27%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "cohort_name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 80, "frequency": 2.5, "frequency_excl_hypermutated": 1.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "80/80", "coverage_note": null, "source_id": "uvm_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "um_qimr_2016", "cohort_name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "altered": 0, "tested": 26, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "26/28", "coverage_note": null, "source_id": "um_qimr_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.33, "reference": 8.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 80, "frequency": 2.5, "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"}], "variants": [], "genomic_events": [{"event_type": "copy_number", "gene": "UTRN", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "UTRN deep deletion", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 80, "tested_status": "observed", "tested_unit": "patients", "frequency": 7.5, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["uvm_tcga_pan_can_atlas_2018"], "source_ids": ["uvm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PCSK7", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "PCSK7 deep deletion", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 80, "tested_status": "observed", "tested_unit": "patients", "frequency": 5.0, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["uvm_tcga_pan_can_atlas_2018"], "source_ids": ["uvm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "COL14A1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "COL14A1 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 80, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.75, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["uvm_tcga_pan_can_atlas_2018"], "source_ids": ["uvm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SPHKAP", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SPHKAP deep deletion", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 80, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.5, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["uvm_tcga_pan_can_atlas_2018"], "source_ids": ["uvm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "HDLBP", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "HDLBP deep deletion", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 80, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.5, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["uvm_tcga_pan_can_atlas_2018"], "source_ids": ["uvm_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 1, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Uveal Melanoma (TCGA, PanCancer Atlas)", "source": "cBioPortal", "accession": "uvm_tcga_pan_can_atlas_2018", "patients": {"value": 80, "status": "observed", "unit": "patients"}, "samples": {"value": 80, "status": "observed", "unit": "samples"}, "disease_subtype": "Uveal Melanoma (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (80)", "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": "uvm_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 80, "patients_in_roster": 80, "frequencies_computed": true, "samples_sequenced": 80, "samples_in_study": 80, "hypermutated_patients": 1, "median_mutations_per_sample": 12.0, "reason": null}}, {"name": "Uveal Melanoma (QIMR, Oncotarget 2016)", "source": "cBioPortal", "accession": "um_qimr_2016", "patients": {"value": 26, "status": "observed", "unit": "patients"}, "samples": {"value": 26, "status": "observed", "unit": "samples"}, "disease_subtype": "Uveal Melanoma (QIMR, Oncotarget 2016)", "assay_type": "exome or genome", "sequencing_method": "WES (26)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "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": "um_qimr_2016", "is_demo": false, "assay_coverage": {"patients_with_calls": 26, "patients_in_roster": 26, "frequencies_computed": true, "samples_sequenced": 26, "samples_in_study": 28, "hypermutated_patients": 0, "median_mutations_per_sample": 10.5, "reason": null}}], "sources": [{"source_name": "cBioPortal · Uveal Melanoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=uvm_tcga_pan_can_atlas_2018", "source_record_id": "uvm_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 · Uveal Melanoma (QIMR, Oncotarget 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=um_qimr_2016", "source_record_id": "um_qimr_2016", "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 Uveal Melanoma (TCGA, PanCancer Atlas) (80 sequenced patients, exome or genome), the most frequently altered of the 45 genes shown are GNAQ 50.0%, GNA11 45.0%, SF3B1 22.5%, BAP1 16.25%, EIF1AX 12.5%. Each figure divides by the patients on whom that gene could be called.", "1 of 80 patients are hypermutated (more than 120 non-silent mutations, ten times the cohort median of 12); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 5 are altered in under 2% of this cohort (PMEL, MET, MITF, PRKCA, MBD4): 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."], "key_findings": [{"finding": "GNAQ is mutated in 40 of 80 patients in Uveal Melanoma (TCGA, PanCancer Atlas).", "numerator": 40, "denominator": 80, "frequency": 50.0, "cohorts": 2, "evidence_confidence": "moderate", "source": "uvm_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "GNA11 is mutated in 36 of 80 patients in Uveal Melanoma (TCGA, PanCancer Atlas).", "numerator": 36, "denominator": 80, "frequency": 45.0, "cohorts": 2, "evidence_confidence": "moderate", "source": "uvm_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "SF3B1 is mutated in 18 of 80 patients in Uveal Melanoma (TCGA, PanCancer Atlas).", "numerator": 18, "denominator": 80, "frequency": 22.5, "cohorts": 2, "evidence_confidence": "moderate", "source": "uvm_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": "uvm_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "GNAQ", "kind": "SNV / small indel", "gene": "GNAQ", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 50.0, "altered": 40, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "observed", "frequency": 30.77, "altered": 8, "tested": 26, "note": null}]}, {"label": "GNA11", "kind": "SNV / small indel", "gene": "GNA11", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 45.0, "altered": 36, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "observed", "frequency": 57.69, "altered": 15, "tested": 26, "note": null}]}, {"label": "BAP1", "kind": "SNV / small indel", "gene": "BAP1", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.25, "altered": 13, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "observed", "frequency": 42.31, "altered": 11, "tested": 26, "note": null}]}, {"label": "SF3B1", "kind": "SNV / small indel", "gene": "SF3B1", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 22.5, "altered": 18, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "observed", "frequency": 11.54, "altered": 3, "tested": 26, "note": null}]}, {"label": "EIF1AX", "kind": "SNV / small indel", "gene": "EIF1AX", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.5, "altered": 10, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "observed", "frequency": 15.38, "altered": 4, "tested": 26, "note": null}]}, {"label": "CYSLTR2", "kind": "SNV / small indel", "gene": "CYSLTR2", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.75, "altered": 3, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "PLCB4", "kind": "SNV / small indel", "gene": "PLCB4", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "observed", "frequency": 7.69, "altered": 2, "tested": 26, "note": null}]}, {"label": "PMEL", "kind": "SNV / small indel", "gene": "PMEL", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "MET", "kind": "SNV / small indel", "gene": "MET", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "MITF", "kind": "SNV / small indel", "gene": "MITF", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "PRKCA", "kind": "SNV / small indel", "gene": "PRKCA", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "MBD4", "kind": "SNV / small indel", "gene": "MBD4", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "SRSF2", "kind": "SNV / small indel", "gene": "SRSF2", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.75, "altered": 3, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "MYOF", "kind": "SNV / small indel", "gene": "MYOF", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.75, "altered": 3, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "observed", "frequency": 3.85, "altered": 1, "tested": 26, "note": null}]}, {"label": "COL14A1", "kind": "SNV / small indel", "gene": "COL14A1", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.75, "altered": 3, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "COL14A1", "kind": "amplification", "gene": "COL14A1", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.75, "altered": 3, "tested": 80, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "um_qimr_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "UTRN", "kind": "SNV / small indel", "gene": "UTRN", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "observed", "frequency": 3.85, "altered": 1, "tested": 26, "note": null}]}, {"label": "UTRN", "kind": "deep deletion", "gene": "UTRN", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.5, "altered": 6, "tested": 80, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "um_qimr_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "TYRP1", "kind": "SNV / small indel", "gene": "TYRP1", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "TPCN1", "kind": "SNV / small indel", "gene": "TPCN1", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "TNS3", "kind": "SNV / small indel", "gene": "TNS3", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "TMEM39A", "kind": "SNV / small indel", "gene": "TMEM39A", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "TKFC", "kind": "SNV / small indel", "gene": "TKFC", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "TBX6", "kind": "SNV / small indel", "gene": "TBX6", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "SPHKAP", "kind": "SNV / small indel", "gene": "SPHKAP", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "SPHKAP", "kind": "deep deletion", "gene": "SPHKAP", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "um_qimr_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "SPEG", "kind": "SNV / small indel", "gene": "SPEG", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "SETX", "kind": "SNV / small indel", "gene": "SETX", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "SELE", "kind": "SNV / small indel", "gene": "SELE", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "SEL1L3", "kind": "SNV / small indel", "gene": "SEL1L3", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "RNF43", "kind": "SNV / small indel", "gene": "RNF43", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "PPP2R1A", "kind": "SNV / small indel", "gene": "PPP2R1A", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "PPL", "kind": "SNV / small indel", "gene": "PPL", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "PLCB2", "kind": "SNV / small indel", "gene": "PLCB2", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "PCSK7", "kind": "SNV / small indel", "gene": "PCSK7", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "PCSK7", "kind": "deep deletion", "gene": "PCSK7", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.0, "altered": 4, "tested": 80, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "um_qimr_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "PCDHB7", "kind": "SNV / small indel", "gene": "PCDHB7", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "MYO1F", "kind": "SNV / small indel", "gene": "MYO1F", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "MYO15A", "kind": "SNV / small indel", "gene": "MYO15A", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "MYBPC2", "kind": "SNV / small indel", "gene": "MYBPC2", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "MC2R", "kind": "SNV / small indel", "gene": "MC2R", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "MAP3K19", "kind": "SNV / small indel", "gene": "MAP3K19", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "MAOB", "kind": "SNV / small indel", "gene": "MAOB", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "LAMA1", "kind": "SNV / small indel", "gene": "LAMA1", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "KCNH5", "kind": "SNV / small indel", "gene": "KCNH5", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "HUWE1", "kind": "SNV / small indel", "gene": "HUWE1", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "HHAT", "kind": "SNV / small indel", "gene": "HHAT", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "HDLBP", "kind": "SNV / small indel", "gene": "HDLBP", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}, {"label": "HDLBP", "kind": "deep deletion", "gene": "HDLBP", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "um_qimr_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "HDAC5", "kind": "SNV / small indel", "gene": "HDAC5", "cells": [{"cohort": "uvm_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.5, "altered": 2, "tested": 80, "note": null}, {"cohort": "um_qimr_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 26, "note": null}]}]}