{"disease": {"name": "Gastrointestinal stromal tumour", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "gist"}, "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": "KIT", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 353, "tested": 469, "frequency": 75.27, "cohort_count": 2, "frequency_range": {"min": 75.27, "max": 76.95}, "major_variants": ["A502_Y503dup (n=34)", "W557_K558del (n=31)", "V559D (n=21)", "N822K (n=16)", "V654A (n=14)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 353/469 patients (75.27%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 353, "tested": 469, "frequency": 75.27, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 384, "tested": 499, "frequency": 76.95, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "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": 353, "tested": 469, "frequency": 75.27, "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": "PDGFRA", "alteration_types": ["SNV / small indel", "amplification"], "altered": 52, "tested": 469, "frequency": 11.09, "cohort_count": 2, "frequency_range": {"min": 9.82, "max": 11.09}, "major_variants": ["D842V (n=29)", "V561D (n=5)", "N659K (n=3)", "I843_D846del (n=3)", "D846Y (n=2)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 52/469 patients (11.09%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 52, "tested": 469, "frequency": 11.09, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 49, "tested": 499, "frequency": 9.82, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 32.73, "width": 4.24, "reference": 36.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 52, "tested": 469, "frequency": 11.09, "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": "SDHB", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 2, "tested": 469, "frequency": 0.43, "cohort_count": 2, "frequency_range": {"min": 0.4, "max": 0.43}, "major_variants": ["R46* (n=1)", "R230G (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 2/469 patients (0.43%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 2, "tested": 469, "frequency": 0.43, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 2, "tested": 499, "frequency": 0.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.33, "width": 1.0, "reference": 1.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 469, "frequency": 0.43, "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": "SDHA", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 9, "tested": 469, "frequency": 1.92, "cohort_count": 2, "frequency_range": {"min": 1.92, "max": 2.0}, "major_variants": ["R31* (n=1)", "C311F (n=1)", "R512* (n=1)", "R188Q (n=1)", "S445L (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 9/469 patients (1.92%).", "Largest alteration is amplification: 11/469 (2.35%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 9, "tested": 469, "frequency": 1.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 10, "tested": 499, "frequency": 2.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.83, "width": 1.0, "reference": 7.83, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 11, "tested": 469, "frequency": 2.35, "is_mutation": false}, "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": "SDHC", "alteration_types": ["amplification"], "altered": 0, "tested": 469, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 0/469 patients (0.0%).", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 0, "tested": 469, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 0, "tested": 499, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "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": 469, "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": "SDHD", "alteration_types": ["amplification"], "altered": 0, "tested": 469, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 0/469 patients (0.0%).", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 0, "tested": 469, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 0, "tested": 499, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "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": 469, "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": "NF1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 21, "tested": 469, "frequency": 4.48, "cohort_count": 2, "frequency_range": {"min": 4.01, "max": 4.48}, "major_variants": ["F1275Pfs*8 (n=1)", "Q83Vfs*23 (n=1)", "R1241Qfs*25 (n=1)", "K111* (n=1)", "Q181* (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 21/469 patients (4.48%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 21, "tested": 469, "frequency": 4.48, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 20, "tested": 499, "frequency": 4.01, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.37, "width": 1.56, "reference": 14.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 469, "frequency": 4.48, "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": "BRAF", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 469, "frequency": 0.43, "cohort_count": 2, "frequency_range": {"min": 0.4, "max": 0.43}, "major_variants": ["V600E (n=2)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 2/469 patients (0.43%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 2, "tested": 469, "frequency": 0.43, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 2, "tested": 499, "frequency": 0.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.33, "width": 1.0, "reference": 1.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 469, "frequency": 0.43, "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": "ETV1", "alteration_types": ["amplification"], "altered": 0, "tested": 469, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 0/469 patients (0.0%).", "Largest alteration is amplification: 4/469 (0.85%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 0, "tested": 469, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 0, "tested": 499, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.83, "width": 1.0, "reference": 2.83, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 4, "tested": 469, "frequency": 0.85, "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": "ANO1", "alteration_types": [], "altered": null, "tested": null, "frequency": null, "cohort_count": 0, "frequency_range": {"min": null, "max": null}, "major_variants": [], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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": ["Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": null, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": null, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_assayed", "altered_unit": "patients", "tested_status": "not_assayed", "tested_unit": "patients", "frequency_status": "not_assayed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "CDKN2A", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 0, "tested": 469, "frequency": 0.0, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.2}, "major_variants": [], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 0/469 patients (0.0%).", "Largest alteration is deep deletion: 99/469 (21.11%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 0, "tested": 469, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 1, "tested": 499, "frequency": 0.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 70.37, "width": 1.0, "reference": 70.37, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 99, "tested": 469, "frequency": 21.11, "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": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TP53", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 21, "tested": 469, "frequency": 4.48, "cohort_count": 2, "frequency_range": {"min": 4.21, "max": 4.48}, "major_variants": ["V216M (n=1)", "M340Dfs*7 (n=1)", "C275Y (n=1)", "R248Q (n=1)", "P27S (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 21/469 patients (4.48%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 21, "tested": 469, "frequency": 4.48, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 21, "tested": 499, "frequency": 4.21, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.03, "width": 1.0, "reference": 14.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 469, "frequency": 4.48, "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": 19, "tested": 469, "frequency": 4.05, "cohort_count": 2, "frequency_range": {"min": 4.01, "max": 4.05}, "major_variants": ["S204* (n=1)", "K2001* (n=1)", "I277T (n=1)", "E750* (n=1)", "N1396Kfs*2 (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 19/469 patients (4.05%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 19, "tested": 469, "frequency": 4.05, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 20, "tested": 499, "frequency": 4.01, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.37, "width": 1.0, "reference": 13.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 469, "frequency": 4.05, "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": "MGA", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 18, "tested": 447, "frequency": 4.03, "cohort_count": 2, "frequency_range": {"min": 3.76, "max": 4.03}, "major_variants": ["H1803Y (n=1)", "I2540Nfs*17 (n=1)", "X698_splice (n=1)", "P1956Hfs*22 (n=1)", "T1197Mfs*2 (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 18/447 patients (4.03%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 18, "tested": 447, "frequency": 4.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 18, "tested": 479, "frequency": 3.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.53, "width": 1.0, "reference": 13.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 447, "frequency": 4.03, "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": "MAX", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 18, "tested": 469, "frequency": 3.84, "cohort_count": 2, "frequency_range": {"min": 3.41, "max": 3.84}, "major_variants": ["R33* (n=1)", "Q91Pfs*53 (n=1)", "R75* (n=1)", "R35L (n=1)", "Y70Ifs*100 (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 18/469 patients (3.84%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 18, "tested": 469, "frequency": 3.84, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 17, "tested": 499, "frequency": 3.41, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.37, "width": 1.43, "reference": 12.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 469, "frequency": 3.84, "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": "RB1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 17, "tested": 469, "frequency": 3.62, "cohort_count": 2, "frequency_range": {"min": 3.01, "max": 3.62}, "major_variants": ["C438Vfs*19 (n=1)", "X738_splice (n=1)", "E54* (n=1)", "X654_splice (n=1)", "L477R (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 17/469 patients (3.62%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 17, "tested": 469, "frequency": 3.62, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 15, "tested": 499, "frequency": 3.01, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.03, "width": 2.04, "reference": 12.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 469, "frequency": 3.62, "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": "CSDE1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 11, "tested": 342, "frequency": 3.22, "cohort_count": 2, "frequency_range": {"min": 3.21, "max": 3.22}, "major_variants": ["P487* (n=1)", "X396_splice (n=1)", "Y184Ifs*2 (n=1)", "R145* (n=1)", "X593_splice (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 11/342 patients (3.22%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 11, "tested": 342, "frequency": 3.22, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 12, "tested": 374, "frequency": 3.21, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.7, "width": 1.0, "reference": 10.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 11, "tested": 342, "frequency": 3.22, "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": "PTEN", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 10, "tested": 469, "frequency": 2.13, "cohort_count": 2, "frequency_range": {"min": 2.13, "max": 2.61}, "major_variants": ["C105S (n=1)", "G129R (n=1)", "I28M (n=1)", "I33del (n=1)", "D324N (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 10/469 patients (2.13%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 10, "tested": 469, "frequency": 2.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 13, "tested": 499, "frequency": 2.61, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.1, "width": 1.6, "reference": 7.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 469, "frequency": 2.13, "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": "PIK3CA", "alteration_types": ["SNV / small indel"], "altered": 9, "tested": 469, "frequency": 1.92, "cohort_count": 2, "frequency_range": {"min": 1.8, "max": 1.92}, "major_variants": ["H1047L (n=2)", "R88Q (n=1)", "V344M (n=1)", "H1047R (n=1)", "G106R (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 9/469 patients (1.92%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 9, "tested": 469, "frequency": 1.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 9, "tested": 499, "frequency": 1.8, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.0, "width": 1.0, "reference": 6.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 469, "frequency": 1.92, "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": "TSC1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 8, "tested": 469, "frequency": 1.71, "cohort_count": 2, "frequency_range": {"min": 1.71, "max": 2.0}, "major_variants": ["S276Lfs*42 (n=1)", "Q3Hfs*23 (n=1)", "E218* (n=1)", "Q830H (n=1)", "X246_splice (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 8/469 patients (1.71%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 8, "tested": 469, "frequency": 1.71, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 10, "tested": 499, "frequency": 2.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.7, "width": 1.0, "reference": 5.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 469, "frequency": 1.71, "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": "ARID1A", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 8, "tested": 469, "frequency": 1.71, "cohort_count": 2, "frequency_range": {"min": 1.4, "max": 1.71}, "major_variants": ["E1060del (n=1)", "R110Efs*3 (n=1)", "R1109W (n=1)", "Q2037Pfs*62 (n=1)", "Y500Ffs*120 (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 8/469 patients (1.71%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 8, "tested": 469, "frequency": 1.71, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 7, "tested": 499, "frequency": 1.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.67, "width": 1.03, "reference": 5.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 469, "frequency": 1.71, "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": "KMT2D", "alteration_types": ["SNV / small indel", "amplification"], "altered": 7, "tested": 469, "frequency": 1.49, "cohort_count": 2, "frequency_range": {"min": 0.4, "max": 1.49}, "major_variants": ["Q3601* (n=1)", "X1377_splice (n=1)", "L1271V (n=1)", "T4938Nfs*56 (n=1)", "L1721F (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 7/469 patients (1.49%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 7, "tested": 469, "frequency": 1.49, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 2, "tested": 499, "frequency": 0.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.33, "width": 3.64, "reference": 4.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 469, "frequency": 1.49, "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": "CREBBP", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 469, "frequency": 1.49, "cohort_count": 2, "frequency_range": {"min": 1.0, "max": 1.49}, "major_variants": ["Q786P (n=1)", "P1647H (n=1)", "N374Y (n=1)", "R1140Q (n=1)", "Q1113* (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 7/469 patients (1.49%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 7, "tested": 469, "frequency": 1.49, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 5, "tested": 499, "frequency": 1.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.33, "width": 1.64, "reference": 4.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 469, "frequency": 1.49, "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": "ROS1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 6, "tested": 469, "frequency": 1.28, "cohort_count": 2, "frequency_range": {"min": 1.0, "max": 1.28}, "major_variants": ["R1467* (n=1)", "I1514V (n=1)", "S2297Y (n=1)", "W847C (n=1)", "G830V (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 6/469 patients (1.28%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 6, "tested": 469, "frequency": 1.28, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 5, "tested": 499, "frequency": 1.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.33, "width": 1.0, "reference": 4.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 469, "frequency": 1.28, "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": 6, "tested": 469, "frequency": 1.28, "cohort_count": 2, "frequency_range": {"min": 1.2, "max": 1.28}, "major_variants": ["A1459D (n=1)", "X1871_splice (n=1)", "M2057I (n=1)", "T571R (n=1)", "K1465E (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 6/469 patients (1.28%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 6, "tested": 469, "frequency": 1.28, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 6, "tested": 499, "frequency": 1.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.0, "width": 1.0, "reference": 4.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 469, "frequency": 1.28, "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": "ZFHX3", "alteration_types": ["SNV / small indel"], "altered": 5, "tested": 447, "frequency": 1.12, "cohort_count": 2, "frequency_range": {"min": 0.63, "max": 1.12}, "major_variants": ["C2835S (n=1)", "A472E (n=1)", "R1119Q (n=1)", "K3239E (n=1)", "G3523_G3527del (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 5/447 patients (1.12%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 5, "tested": 447, "frequency": 1.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 3, "tested": 479, "frequency": 0.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.1, "width": 1.63, "reference": 3.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 447, "frequency": 1.12, "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"], "altered": 5, "tested": 469, "frequency": 1.07, "cohort_count": 2, "frequency_range": {"min": 1.07, "max": 1.2}, "major_variants": ["P4310S (n=1)", "G3435V (n=1)", "Q587P (n=1)", "F4496Lfs*21 (n=1)", "T3504S (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 5/469 patients (1.07%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 5, "tested": 469, "frequency": 1.07, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 6, "tested": 499, "frequency": 1.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.57, "width": 1.0, "reference": 3.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 469, "frequency": 1.07, "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": "KMT2A", "alteration_types": ["SNV / small indel", "amplification"], "altered": 5, "tested": 469, "frequency": 1.07, "cohort_count": 2, "frequency_range": {"min": 0.6, "max": 1.07}, "major_variants": ["M1018I (n=1)", "R1249G (n=1)", "P193Rfs*10 (n=1)", "S1294* (n=1)", "K212R (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 5/469 patients (1.07%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 5, "tested": 469, "frequency": 1.07, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 3, "tested": 499, "frequency": 0.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.0, "width": 1.57, "reference": 3.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 469, "frequency": 1.07, "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": "CBL", "alteration_types": ["SNV / small indel", "amplification"], "altered": 5, "tested": 469, "frequency": 1.07, "cohort_count": 2, "frequency_range": {"min": 1.07, "max": 1.2}, "major_variants": ["C384R (n=1)", "X410_splice (n=1)", "Y368N (n=1)", "S667Pfs*35 (n=1)", "Y368C (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 5/469 patients (1.07%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 5, "tested": 469, "frequency": 1.07, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 6, "tested": 499, "frequency": 1.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.57, "width": 1.0, "reference": 3.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 469, "frequency": 1.07, "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": "ATM", "alteration_types": ["SNV / small indel"], "altered": 5, "tested": 469, "frequency": 1.07, "cohort_count": 2, "frequency_range": {"min": 1.07, "max": 1.4}, "major_variants": ["K3004E (n=1)", "I2888T (n=1)", "G1746* (n=1)", "D203N (n=1)", "T909Nfs*11 (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 5/469 patients (1.07%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 5, "tested": 469, "frequency": 1.07, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 7, "tested": 499, "frequency": 1.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.57, "width": 1.1, "reference": 3.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 469, "frequency": 1.07, "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": "TET2", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 469, "frequency": 0.85, "cohort_count": 2, "frequency_range": {"min": 0.6, "max": 0.85}, "major_variants": ["L1514I (n=1)", "D299E (n=1)", "C1932F (n=1)", "G641E (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 4/469 patients (0.85%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 4, "tested": 469, "frequency": 0.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 3, "tested": 499, "frequency": 0.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.0, "width": 1.0, "reference": 2.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 469, "frequency": 0.85, "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": "PIK3R1", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 469, "frequency": 0.85, "cohort_count": 2, "frequency_range": {"min": 0.6, "max": 0.85}, "major_variants": ["K567_L570del (n=1)", "N564K (n=1)", "N564D (n=1)", "D168N (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 4/469 patients (0.85%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 4, "tested": 469, "frequency": 0.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 3, "tested": 499, "frequency": 0.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.0, "width": 1.0, "reference": 2.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 469, "frequency": 0.85, "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": "PIK3C2G", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 4, "tested": 469, "frequency": 0.85, "cohort_count": 2, "frequency_range": {"min": 0.6, "max": 0.85}, "major_variants": ["F171L (n=1)", "H99L (n=1)", "G564R (n=1)", "X731_splice (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 4/469 patients (0.85%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 4, "tested": 469, "frequency": 0.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 3, "tested": 499, "frequency": 0.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.0, "width": 1.0, "reference": 2.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 469, "frequency": 0.85, "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": "JAK1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 4, "tested": 469, "frequency": 0.85, "cohort_count": 2, "frequency_range": {"min": 0.8, "max": 0.85}, "major_variants": ["R997Q (n=1)", "V36M (n=1)", "R997W (n=1)", "I855T (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 4/469 patients (0.85%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 4, "tested": 469, "frequency": 0.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 4, "tested": 499, "frequency": 0.8, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.67, "width": 1.0, "reference": 2.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 469, "frequency": 0.85, "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": "IRS2", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 469, "frequency": 0.85, "cohort_count": 2, "frequency_range": {"min": 0.8, "max": 0.85}, "major_variants": ["G1188S (n=1)", "S555C (n=1)", "V1299I (n=1)", "C409Y (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 4/469 patients (0.85%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 4, "tested": 469, "frequency": 0.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 4, "tested": 499, "frequency": 0.8, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.67, "width": 1.0, "reference": 2.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 469, "frequency": 0.85, "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": "GRIN2A", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 4, "tested": 469, "frequency": 0.85, "cohort_count": 2, "frequency_range": {"min": 0.8, "max": 0.85}, "major_variants": ["F553L (n=1)", "T141K (n=1)", "R1288H (n=1)", "A818V (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 4/469 patients (0.85%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 4, "tested": 469, "frequency": 0.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 4, "tested": 499, "frequency": 0.8, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.67, "width": 1.0, "reference": 2.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 469, "frequency": 0.85, "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": "ATRX", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 469, "frequency": 0.85, "cohort_count": 2, "frequency_range": {"min": 0.8, "max": 0.85}, "major_variants": ["G1945R (n=1)", "E822G (n=1)", "I2145M (n=1)", "T1529N (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 4/469 patients (0.85%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 4, "tested": 469, "frequency": 0.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 4, "tested": 499, "frequency": 0.8, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.67, "width": 1.0, "reference": 2.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 469, "frequency": 0.85, "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": "ARID2", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 469, "frequency": 0.85, "cohort_count": 2, "frequency_range": {"min": 0.6, "max": 0.85}, "major_variants": ["X1757_splice (n=1)", "K1791R (n=1)", "M667L (n=1)", "R143_L148del (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 4/469 patients (0.85%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 4, "tested": 469, "frequency": 0.85, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 3, "tested": 499, "frequency": 0.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.0, "width": 1.0, "reference": 2.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 469, "frequency": 0.85, "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": "TSC2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 3, "tested": 469, "frequency": 0.64, "cohort_count": 2, "frequency_range": {"min": 0.4, "max": 0.64}, "major_variants": ["K658del (n=1)", "W441R (n=1)", "L1423P (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 3/469 patients (0.64%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 3, "tested": 469, "frequency": 0.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 2, "tested": 499, "frequency": 0.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.33, "width": 1.0, "reference": 2.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 469, "frequency": 0.64, "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": "TRAF7", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 3, "tested": 469, "frequency": 0.64, "cohort_count": 2, "frequency_range": {"min": 0.6, "max": 0.64}, "major_variants": ["C670W (n=1)", "N18Pfs*108 (n=1)", "S158A (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 3/469 patients (0.64%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 3, "tested": 469, "frequency": 0.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 3, "tested": 499, "frequency": 0.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.0, "width": 1.0, "reference": 2.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 469, "frequency": 0.64, "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": "TP63", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 3, "tested": 469, "frequency": 0.64, "cohort_count": 2, "frequency_range": {"min": 0.6, "max": 0.64}, "major_variants": ["S471N (n=1)", "R647C (n=1)", "T434M (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 3/469 patients (0.64%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 3, "tested": 469, "frequency": 0.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 3, "tested": 499, "frequency": 0.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.0, "width": 1.0, "reference": 2.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 469, "frequency": 0.64, "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": "TGFBR2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 3, "tested": 469, "frequency": 0.64, "cohort_count": 2, "frequency_range": {"min": 0.64, "max": 0.8}, "major_variants": ["G549E (n=1)", "T309M (n=1)", "S353F (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 3/469 patients (0.64%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 3, "tested": 469, "frequency": 0.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 4, "tested": 499, "frequency": 0.8, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.13, "width": 1.0, "reference": 2.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 469, "frequency": 0.64, "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": "RPTOR", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 469, "frequency": 0.64, "cohort_count": 2, "frequency_range": {"min": 0.2, "max": 0.64}, "major_variants": ["R583T (n=1)", "R788C (n=1)", "V327M (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 3/469 patients (0.64%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 3, "tested": 469, "frequency": 0.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 1, "tested": 499, "frequency": 0.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.67, "width": 1.46, "reference": 2.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 469, "frequency": 0.64, "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": "RET", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 3, "tested": 469, "frequency": 0.64, "cohort_count": 2, "frequency_range": {"min": 0.6, "max": 0.64}, "major_variants": ["C216Y (n=1)", "D267N (n=1)", "R833C (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 3/469 patients (0.64%).", "Largest alteration is deep deletion: 4/469 (0.85%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 3, "tested": 469, "frequency": 0.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 3, "tested": 499, "frequency": 0.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.83, "width": 1.0, "reference": 2.83, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 4, "tested": 469, "frequency": 0.85, "is_mutation": false}, "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": "RBM10", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 469, "frequency": 0.64, "cohort_count": 2, "frequency_range": {"min": 0.6, "max": 0.64}, "major_variants": ["E219* (n=1)", "X622_splice (n=1)", "R739L (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 3/469 patients (0.64%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 3, "tested": 469, "frequency": 0.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 3, "tested": 499, "frequency": 0.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.0, "width": 1.0, "reference": 2.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 469, "frequency": 0.64, "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": "RAD50", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 469, "frequency": 0.64, "cohort_count": 2, "frequency_range": {"min": 0.6, "max": 0.64}, "major_variants": ["L1195F (n=1)", "-933fs (n=1)", "K574Nfs*24 (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 3/469 patients (0.64%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 3, "tested": 469, "frequency": 0.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 3, "tested": 499, "frequency": 0.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.0, "width": 1.0, "reference": 2.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 469, "frequency": 0.64, "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": "PTPRD", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 3, "tested": 469, "frequency": 0.64, "cohort_count": 2, "frequency_range": {"min": 0.4, "max": 0.64}, "major_variants": ["G855C (n=1)", "W630* (n=1)", "S1333N (n=1)"], "evidence_confidence": "low", "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 · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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: Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023), 3/469 patients (0.64%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "gist_msk_2023", "cohort_name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "altered": 3, "tested": 469, "frequency": 0.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "469/469", "coverage_note": null, "source_id": "gist_msk_2023", "is_reference": true}, {"cohort": "gist_msk_2022", "cohort_name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "altered": 2, "tested": 499, "frequency": 0.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "499/499", "coverage_note": null, "source_id": "gist_msk_2022", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.33, "width": 1.0, "reference": 2.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 469, "frequency": 0.64, "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": "CDKN2A", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "CDKN2A deep deletion", "genomic_coordinate": null, "observed": 110, "observed_status": "observed", "observed_unit": "patients", "tested": 499, "tested_status": "observed", "tested_unit": "patients", "frequency": 22.04, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gist_msk_2022"], "source_ids": ["gist_msk_2022_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CDKN2A", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "CDKN2A deep deletion", "genomic_coordinate": null, "observed": 99, "observed_status": "observed", "observed_unit": "patients", "tested": 469, "tested_status": "observed", "tested_unit": "patients", "frequency": 21.11, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gist_msk_2023"], "source_ids": ["gist_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KIT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KIT amplification", "genomic_coordinate": null, "observed": 19, "observed_status": "observed", "observed_unit": "patients", "tested": 499, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.81, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gist_msk_2022"], "source_ids": ["gist_msk_2022_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KIT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KIT amplification", "genomic_coordinate": null, "observed": 15, "observed_status": "observed", "observed_unit": "patients", "tested": 469, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.2, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gist_msk_2023"], "source_ids": ["gist_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "RB1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "RB1 deep deletion", "genomic_coordinate": null, "observed": 15, "observed_status": "observed", "observed_unit": "patients", "tested": 469, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.2, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gist_msk_2023"], "source_ids": ["gist_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "RB1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "RB1 deep deletion", "genomic_coordinate": null, "observed": 14, "observed_status": "observed", "observed_unit": "patients", "tested": 499, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.81, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gist_msk_2022"], "source_ids": ["gist_msk_2022_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SDHA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SDHA amplification", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 469, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.35, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gist_msk_2023"], "source_ids": ["gist_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PDGFRA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PDGFRA amplification", "genomic_coordinate": null, "observed": 10, "observed_status": "observed", "observed_unit": "patients", "tested": 499, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.0, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gist_msk_2022"], "source_ids": ["gist_msk_2022_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SDHA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SDHA amplification", "genomic_coordinate": null, "observed": 10, "observed_status": "observed", "observed_unit": "patients", "tested": 499, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.0, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["gist_msk_2022"], "source_ids": ["gist_msk_2022_cna"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source": "cBioPortal", "accession": "gist_msk_2023", "patients": {"value": 469, "status": "observed", "unit": "patients"}, "samples": {"value": 469, "status": "observed", "unit": "samples"}, "disease_subtype": "Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (281), IMPACT410 (105), IMPACT505 (61), IMPACT341 (22)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "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": "gist_msk_2023", "is_demo": false, "assay_coverage": {"patients_with_calls": 469, "patients_in_roster": 469, "frequencies_computed": true, "samples_sequenced": 469, "samples_in_study": 469, "hypermutated_patients": 0, "median_mutations_per_sample": 2, "reason": null}}, {"name": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source": "cBioPortal", "accession": "gist_msk_2022", "patients": {"value": 499, "status": "observed", "unit": "patients"}, "samples": {"value": 499, "status": "observed", "unit": "samples"}, "disease_subtype": "Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (308), IMPACT410 (105), IMPACT505 (66), IMPACT341 (20)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "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": "gist_msk_2022", "is_demo": false, "assay_coverage": {"patients_with_calls": 499, "patients_in_roster": 499, "frequencies_computed": true, "samples_sequenced": 499, "samples_in_study": 499, "hypermutated_patients": 0, "median_mutations_per_sample": 2, "reason": null}}], "sources": [{"source_name": "cBioPortal · Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2023", "source_record_id": "gist_msk_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}, {"source_name": "cBioPortal · Gastrointestinal Stromal Tumor (MSK, NPJ Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=gist_msk_2022", "source_record_id": "gist_msk_2022", "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 Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023) (469 sequenced patients, targeted panel), the most frequently altered of the 47 genes shown are KIT 75.27%, CDKN2A 21.11% (deep deletion), PDGFRA 11.09%, NF1 4.48%, TP53 4.48%. Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 5 are altered in under 2% of this cohort (SDHB, SDHC, SDHD, BRAF, ETV1): 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": "KIT is mutated in 353 of 469 patients in Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023).", "numerator": 353, "denominator": 469, "frequency": 75.27, "cohorts": 2, "evidence_confidence": "low", "source": "gist_msk_2023", "retrieved_at": "2026-09-18"}, {"finding": "CDKN2A is deleted in 99 of 469 patients in Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023).", "numerator": 99, "denominator": 469, "frequency": 21.11, "cohorts": 1, "evidence_confidence": "low", "source": "gist_msk_2023", "retrieved_at": "2026-09-18"}, {"finding": "PDGFRA is mutated in 52 of 469 patients in Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023).", "numerator": 52, "denominator": 469, "frequency": 11.09, "cohorts": 2, "evidence_confidence": "low", "source": "gist_msk_2023", "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": "gist_msk_2023", "region_events": [], "matrix": [{"label": "KIT", "kind": "SNV / small indel", "gene": "KIT", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 75.27, "altered": 353, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 76.95, "altered": 384, "tested": 499, "note": null}]}, {"label": "KIT", "kind": "amplification", "gene": "KIT", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 3.2, "altered": 15, "tested": 469, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 3.81, "altered": 19, "tested": 499, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PDGFRA", "kind": "SNV / small indel", "gene": "PDGFRA", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 11.09, "altered": 52, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 9.82, "altered": 49, "tested": 499, "note": null}]}, {"label": "PDGFRA", "kind": "amplification", "gene": "PDGFRA", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.92, "altered": 9, "tested": 469, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 2.0, "altered": 10, "tested": 499, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SDHB", "kind": "SNV / small indel", "gene": "SDHB", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.43, "altered": 2, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.4, "altered": 2, "tested": 499, "note": null}]}, {"label": "SDHA", "kind": "SNV / small indel", "gene": "SDHA", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.92, "altered": 9, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 2.0, "altered": 10, "tested": 499, "note": null}]}, {"label": "SDHA", "kind": "amplification", "gene": "SDHA", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 2.35, "altered": 11, "tested": 469, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 2.0, "altered": 10, "tested": 499, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SDHC", "kind": "SNV / small indel", "gene": "SDHC", "cells": [{"cohort": "gist_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 499, "note": null}]}, {"label": "SDHD", "kind": "SNV / small indel", "gene": "SDHD", "cells": [{"cohort": "gist_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 499, "note": null}]}, {"label": "NF1", "kind": "SNV / small indel", "gene": "NF1", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 4.48, "altered": 21, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 4.01, "altered": 20, "tested": 499, "note": null}]}, {"label": "BRAF", "kind": "SNV / small indel", "gene": "BRAF", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.43, "altered": 2, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.4, "altered": 2, "tested": 499, "note": null}]}, {"label": "ETV1", "kind": "SNV / small indel", "gene": "ETV1", "cells": [{"cohort": "gist_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 499, "note": null}]}, {"label": "ANO1", "kind": "SNV / small indel", "gene": "ANO1", "cells": [{"cohort": "gist_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "gist_msk_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "gist_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.2, "altered": 1, "tested": 499, "note": null}]}, {"label": "CDKN2A", "kind": "deep deletion", "gene": "CDKN2A", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 21.11, "altered": 99, "tested": 469, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 22.04, "altered": 110, "tested": 499, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 4.48, "altered": 21, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 4.21, "altered": 21, "tested": 499, "note": null}]}, {"label": "SETD2", "kind": "SNV / small indel", "gene": "SETD2", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 4.05, "altered": 19, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 4.01, "altered": 20, "tested": 499, "note": null}]}, {"label": "MGA", "kind": "SNV / small indel", "gene": "MGA", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 4.03, "altered": 18, "tested": 447, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 3.76, "altered": 18, "tested": 479, "note": null}]}, {"label": "MAX", "kind": "SNV / small indel", "gene": "MAX", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 3.84, "altered": 18, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 3.41, "altered": 17, "tested": 499, "note": null}]}, {"label": "RB1", "kind": "SNV / small indel", "gene": "RB1", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 3.62, "altered": 17, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 3.01, "altered": 15, "tested": 499, "note": null}]}, {"label": "RB1", "kind": "deep deletion", "gene": "RB1", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 3.2, "altered": 15, "tested": 469, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 2.81, "altered": 14, "tested": 499, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CSDE1", "kind": "SNV / small indel", "gene": "CSDE1", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 3.22, "altered": 11, "tested": 342, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 3.21, "altered": 12, "tested": 374, "note": null}]}, {"label": "PTEN", "kind": "SNV / small indel", "gene": "PTEN", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 2.13, "altered": 10, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 2.61, "altered": 13, "tested": 499, "note": null}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.92, "altered": 9, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 1.8, "altered": 9, "tested": 499, "note": null}]}, {"label": "TSC1", "kind": "SNV / small indel", "gene": "TSC1", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.71, "altered": 8, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 2.0, "altered": 10, "tested": 499, "note": null}]}, {"label": "ARID1A", "kind": "SNV / small indel", "gene": "ARID1A", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.71, "altered": 8, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 1.4, "altered": 7, "tested": 499, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.49, "altered": 7, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.4, "altered": 2, "tested": 499, "note": null}]}, {"label": "CREBBP", "kind": "SNV / small indel", "gene": "CREBBP", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.49, "altered": 7, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 1.0, "altered": 5, "tested": 499, "note": null}]}, {"label": "ROS1", "kind": "SNV / small indel", "gene": "ROS1", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.28, "altered": 6, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 1.0, "altered": 5, "tested": 499, "note": null}]}, {"label": "MTOR", "kind": "SNV / small indel", "gene": "MTOR", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.28, "altered": 6, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 1.2, "altered": 6, "tested": 499, "note": null}]}, {"label": "ZFHX3", "kind": "SNV / small indel", "gene": "ZFHX3", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.12, "altered": 5, "tested": 447, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.63, "altered": 3, "tested": 479, "note": null}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.07, "altered": 5, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 1.2, "altered": 6, "tested": 499, "note": null}]}, {"label": "KMT2A", "kind": "SNV / small indel", "gene": "KMT2A", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.07, "altered": 5, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.6, "altered": 3, "tested": 499, "note": null}]}, {"label": "CBL", "kind": "SNV / small indel", "gene": "CBL", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.07, "altered": 5, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 1.2, "altered": 6, "tested": 499, "note": null}]}, {"label": "ATM", "kind": "SNV / small indel", "gene": "ATM", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 1.07, "altered": 5, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 1.4, "altered": 7, "tested": 499, "note": null}]}, {"label": "TET2", "kind": "SNV / small indel", "gene": "TET2", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.85, "altered": 4, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.6, "altered": 3, "tested": 499, "note": null}]}, {"label": "PIK3R1", "kind": "SNV / small indel", "gene": "PIK3R1", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.85, "altered": 4, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.6, "altered": 3, "tested": 499, "note": null}]}, {"label": "PIK3C2G", "kind": "SNV / small indel", "gene": "PIK3C2G", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.85, "altered": 4, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.6, "altered": 3, "tested": 499, "note": null}]}, {"label": "JAK1", "kind": "SNV / small indel", "gene": "JAK1", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.85, "altered": 4, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.8, "altered": 4, "tested": 499, "note": null}]}, {"label": "IRS2", "kind": "SNV / small indel", "gene": "IRS2", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.85, "altered": 4, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.8, "altered": 4, "tested": 499, "note": null}]}, {"label": "GRIN2A", "kind": "SNV / small indel", "gene": "GRIN2A", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.85, "altered": 4, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.8, "altered": 4, "tested": 499, "note": null}]}, {"label": "ATRX", "kind": "SNV / small indel", "gene": "ATRX", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.85, "altered": 4, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.8, "altered": 4, "tested": 499, "note": null}]}, {"label": "ARID2", "kind": "SNV / small indel", "gene": "ARID2", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.85, "altered": 4, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.6, "altered": 3, "tested": 499, "note": null}]}, {"label": "TSC2", "kind": "SNV / small indel", "gene": "TSC2", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.64, "altered": 3, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.4, "altered": 2, "tested": 499, "note": null}]}, {"label": "TRAF7", "kind": "SNV / small indel", "gene": "TRAF7", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.64, "altered": 3, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.6, "altered": 3, "tested": 499, "note": null}]}, {"label": "TP63", "kind": "SNV / small indel", "gene": "TP63", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.64, "altered": 3, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.6, "altered": 3, "tested": 499, "note": null}]}, {"label": "TGFBR2", "kind": "SNV / small indel", "gene": "TGFBR2", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.64, "altered": 3, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.8, "altered": 4, "tested": 499, "note": null}]}, {"label": "RPTOR", "kind": "SNV / small indel", "gene": "RPTOR", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.64, "altered": 3, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.2, "altered": 1, "tested": 499, "note": null}]}, {"label": "RET", "kind": "SNV / small indel", "gene": "RET", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.64, "altered": 3, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.6, "altered": 3, "tested": 499, "note": null}]}, {"label": "RBM10", "kind": "SNV / small indel", "gene": "RBM10", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.64, "altered": 3, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.6, "altered": 3, "tested": 499, "note": null}]}, {"label": "RAD50", "kind": "SNV / small indel", "gene": "RAD50", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.64, "altered": 3, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.6, "altered": 3, "tested": 499, "note": null}]}, {"label": "PTPRD", "kind": "SNV / small indel", "gene": "PTPRD", "cells": [{"cohort": "gist_msk_2023", "status": "observed", "frequency": 0.64, "altered": 3, "tested": 469, "note": null}, {"cohort": "gist_msk_2022", "status": "observed", "frequency": 0.4, "altered": 2, "tested": 499, "note": null}]}]}