{"disease": {"name": "Rhabdomyosarcoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "rms"}, "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": "PAX3", "alteration_types": [], "altered": 0, "tested": 43, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not 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"genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Rhabdomyosarcoma (NIH, Cancer Discov 2014), 0/43 patients (0.0%).", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "rms_nih_2014", "cohort_name": "Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "altered": 0, "tested": 43, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "43/43", "coverage_note": null, "source_id": "rms_nih_2014", "is_reference": true}, {"cohort": "rms_msk_2023", "cohort_name": "Pediatric Rhabdomyosarcomas (MSK, JCO 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": "24/24", "coverage_note": null, "source_id": "rms_msk_2023", "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": 43, "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": "FOXO1", "alteration_types": ["amplification"], "altered": 0, "tested": 43, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease 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"source_id": "rms_nih_2014", "is_reference": true}, {"cohort": "rms_msk_2023", "cohort_name": "Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "altered": 0, "tested": 22, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "24/24", "coverage_note": null, "source_id": "rms_msk_2023", "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": 43, "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": "MYOD1", "alteration_types": 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"patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FGFR4", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 3, "tested": 43, "frequency": 6.98, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 6.98}, "major_variants": ["V550L (n=2)", "V550M (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Rhabdomyosarcoma (NIH, Cancer 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"ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 23.27, "reference": 23.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 43, "frequency": 6.98, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NRAS", "alteration_types": ["SNV / small indel", "amplification"], "altered": 4, "tested": 43, "frequency": 9.3, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 9.3}, "major_variants": ["Q61K (n=4)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in 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"normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Rhabdomyosarcoma (NIH, Cancer Discov 2014), 4/43 patients (9.3%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "rms_nih_2014", "cohort_name": "Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "altered": 4, "tested": 43, "frequency": 9.3, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "43/43", "coverage_note": null, "source_id": "rms_nih_2014", "is_reference": true}, {"cohort": "rms_msk_2023", "cohort_name": "Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "altered": 0, "tested": 24, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "24/24", "coverage_note": null, "source_id": "rms_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 31.0, "reference": 31.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 43, "frequency": 9.3, "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": "KRAS", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 43, "frequency": 6.98, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 6.98}, "major_variants": ["G12A (n=1)", "G12D (n=1)", "G13D (n=1)"], 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false}, {"source_name": "cBioPortal · Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=rms_msk_2023", "source_record_id": "rms_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}], "derived_insights": ["Reference cohort: Rhabdomyosarcoma (NIH, Cancer Discov 2014), 3/43 patients (6.98%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "rms_nih_2014", "cohort_name": "Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "altered": 3, "tested": 43, "frequency": 6.98, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "43/43", "coverage_note": null, "source_id": "rms_nih_2014", "is_reference": true}, {"cohort": "rms_msk_2023", "cohort_name": "Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "altered": 0, "tested": 24, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "24/24", "coverage_note": null, "source_id": "rms_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 23.27, "reference": 23.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 43, "frequency": 6.98, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": 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"processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=rms_msk_2023", "source_record_id": "rms_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}], "derived_insights": ["Reference cohort: Rhabdomyosarcoma (NIH, Cancer Discov 2014), 2/43 patients (4.65%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not 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Rhabdomyosarcomas (MSK, JCO 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": "24/24", "coverage_note": null, "source_id": "rms_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.5, "width": 1.0, "reference": 15.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 43, "frequency": 4.65, "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": "CDK12", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 43, "frequency": 4.65, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 4.65}, "major_variants": ["E431K (n=1)", "T542A (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=rms_nih_2014", "source_record_id": "rms_nih_2014", "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 · Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=rms_msk_2023", "source_record_id": "rms_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}], "derived_insights": ["Reference cohort: Rhabdomyosarcoma (NIH, Cancer Discov 2014), 2/43 patients (4.65%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "rms_nih_2014", "cohort_name": "Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "altered": 2, "tested": 43, "frequency": 4.65, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "43/43", "coverage_note": null, "source_id": "rms_nih_2014", "is_reference": true}, {"cohort": "rms_msk_2023", "cohort_name": "Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "altered": 0, "tested": 24, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "24/24", "coverage_note": null, "source_id": "rms_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 15.5, "reference": 15.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 43, "frequency": 4.65, "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": "CACNA1A", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 43, "frequency": 4.65, "cohort_count": 1, "frequency_range": {"min": 4.65, "max": 4.65}, "major_variants": ["V1183I (n=1)", "F146L (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=rms_nih_2014", "source_record_id": "rms_nih_2014", "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 · Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=rms_msk_2023", "source_record_id": "rms_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}], "derived_insights": ["Reference cohort: Rhabdomyosarcoma (NIH, Cancer Discov 2014), 2/43 patients (4.65%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "rms_nih_2014", "cohort_name": "Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "altered": 2, "tested": 43, "frequency": 4.65, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "43/43", "coverage_note": null, "source_id": "rms_nih_2014", "is_reference": true}, {"cohort": "rms_msk_2023", "cohort_name": "Pediatric Rhabdomyosarcomas (MSK, JCO 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": "24/24", "coverage_note": null, "source_id": "rms_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.5, "width": 1.0, "reference": 15.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 43, "frequency": 4.65, "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": "C1GALT1C1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 43, "frequency": 4.65, "cohort_count": 1, "frequency_range": {"min": 4.65, "max": 4.65}, "major_variants": ["G33V (n=1)", "Q285K (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=rms_nih_2014", "source_record_id": "rms_nih_2014", "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 · Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=rms_msk_2023", "source_record_id": "rms_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}], "derived_insights": ["Reference cohort: Rhabdomyosarcoma (NIH, Cancer Discov 2014), 2/43 patients (4.65%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "rms_nih_2014", "cohort_name": "Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "altered": 2, "tested": 43, "frequency": 4.65, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "43/43", "coverage_note": null, "source_id": "rms_nih_2014", "is_reference": true}, {"cohort": "rms_msk_2023", "cohort_name": "Pediatric Rhabdomyosarcomas (MSK, JCO 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": "24/24", "coverage_note": null, "source_id": "rms_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.5, "width": 1.0, "reference": 15.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 43, "frequency": 4.65, "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": "FOXO1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FOXO1 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 24, "tested_status": "observed", "tested_unit": "patients", "frequency": 12.5, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["rms_msk_2023"], "source_ids": ["rms_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CDK4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CDK4 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 24, "tested_status": "observed", "tested_unit": "patients", "frequency": 12.5, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["rms_msk_2023"], "source_ids": ["rms_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MDM2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MDM2 amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 24, "tested_status": "observed", "tested_unit": "patients", "frequency": 8.33, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["rms_msk_2023"], "source_ids": ["rms_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FGFR4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FGFR4 amplification", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 24, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["rms_msk_2023"], "source_ids": ["rms_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FGFR4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "FGFR4 deep deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 24, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["rms_msk_2023"], "source_ids": ["rms_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "NRAS", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "NRAS amplification", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 24, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["rms_msk_2023"], "source_ids": ["rms_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TP53", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "TP53 deep deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 24, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["rms_msk_2023"], "source_ids": ["rms_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MYCN", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MYCN amplification", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 24, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["rms_msk_2023"], "source_ids": ["rms_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 1, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 1, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "source": "cBioPortal", "accession": "rms_nih_2014", "patients": {"value": 43, "status": "observed", "unit": "patients"}, "samples": {"value": 43, "status": "observed", "unit": "samples"}, "disease_subtype": "Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "assay_type": "exome or genome", "sequencing_method": "WES (43)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "rms_nih_2014", "is_demo": false, "assay_coverage": {"patients_with_calls": 43, "patients_in_roster": 43, "frequencies_computed": true, "samples_sequenced": 43, "samples_in_study": 43, "hypermutated_patients": 0, "median_mutations_per_sample": 9, "reason": null}}, {"name": "Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "source": "cBioPortal", "accession": "rms_msk_2023", "patients": {"value": 24, "status": "observed", "unit": "patients"}, "samples": {"value": 24, "status": "observed", "unit": "samples"}, "disease_subtype": "Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (11), IMPACT505 (8), IMPACT410 (3), IMPACT341 (2)", "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": "rms_msk_2023", "is_demo": false, "assay_coverage": {"patients_with_calls": 24, "patients_in_roster": 24, "frequencies_computed": true, "samples_sequenced": 24, "samples_in_study": 24, "hypermutated_patients": 0, "median_mutations_per_sample": 0.5, "reason": null}}], "sources": [{"source_name": "cBioPortal · Rhabdomyosarcoma (NIH, Cancer Discov 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=rms_nih_2014", "source_record_id": "rms_nih_2014", "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 · Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=rms_msk_2023", "source_record_id": "rms_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}], "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 Rhabdomyosarcoma (NIH, Cancer Discov 2014) (43 sequenced patients, exome or genome), the most frequently altered of the 37 genes shown are NRAS 9.3%, FGFR4 6.98%, KRAS 6.98%, SLC6A17 6.98%, PIK3CA 6.98%. Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 7 are altered in under 2% of this cohort (PAX3, FOXO1, MYOD1, CDK4, IGF1R, MYCN, MDM2): 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": "NRAS is mutated in 4 of 43 patients in Rhabdomyosarcoma (NIH, Cancer Discov 2014).", "numerator": 4, "denominator": 43, "frequency": 9.3, "cohorts": 1, "evidence_confidence": "moderate", "source": "rms_nih_2014", "retrieved_at": "2026-09-18"}, {"finding": "FGFR4 is mutated in 3 of 43 patients in Rhabdomyosarcoma (NIH, Cancer Discov 2014).", "numerator": 3, "denominator": 43, "frequency": 6.98, "cohorts": 1, "evidence_confidence": "moderate", "source": "rms_nih_2014", "retrieved_at": "2026-09-18"}, {"finding": "KRAS is mutated in 3 of 43 patients in Rhabdomyosarcoma (NIH, Cancer Discov 2014).", "numerator": 3, "denominator": 43, "frequency": 6.98, "cohorts": 1, "evidence_confidence": "moderate", "source": "rms_nih_2014", "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": "rms_nih_2014", "region_events": [], "matrix": [{"label": "PAX3", "kind": "SNV / small indel", "gene": "PAX3", "cells": [{"cohort": "rms_nih_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FOXO1", "kind": "SNV / small indel", "gene": "FOXO1", "cells": [{"cohort": "rms_nih_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 22, "note": null}]}, {"label": "FOXO1", "kind": "amplification", "gene": "FOXO1", "cells": [{"cohort": "rms_nih_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 12.5, "altered": 3, "tested": 24, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "MYOD1", "kind": "SNV / small indel", "gene": "MYOD1", "cells": [{"cohort": "rms_nih_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 8.33, "altered": 2, "tested": 24, "note": null}]}, {"label": "FGFR4", "kind": "SNV / small indel", "gene": "FGFR4", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 6.98, "altered": 3, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 24, "note": null}]}, {"label": "FGFR4", "kind": "amplification", "gene": "FGFR4", "cells": [{"cohort": "rms_nih_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 4.17, "altered": 1, "tested": 24, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "FGFR4", "kind": "deep deletion", "gene": "FGFR4", "cells": [{"cohort": "rms_nih_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 4.17, "altered": 1, "tested": 24, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "NRAS", "kind": "SNV / small indel", "gene": "NRAS", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 9.3, "altered": 4, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 24, "note": null}]}, {"label": "NRAS", "kind": "amplification", "gene": "NRAS", "cells": [{"cohort": "rms_nih_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 4.17, "altered": 1, "tested": 24, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KRAS", "kind": "SNV / small indel", "gene": "KRAS", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 6.98, "altered": 3, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 24, "note": null}]}, {"label": "HRAS", "kind": "SNV / small indel", "gene": "HRAS", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 4.17, "altered": 1, "tested": 24, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 2.33, "altered": 1, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 24, "note": null}]}, {"label": "TP53", "kind": "deep deletion", "gene": "TP53", "cells": [{"cohort": "rms_nih_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 4.17, "altered": 1, "tested": 24, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CDK4", "kind": "SNV / small indel", "gene": "CDK4", "cells": [{"cohort": "rms_nih_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 24, "note": null}]}, {"label": "CDK4", "kind": "amplification", "gene": "CDK4", "cells": [{"cohort": "rms_nih_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 12.5, "altered": 3, "tested": 24, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "IGF1R", "kind": "SNV / small indel", "gene": "IGF1R", "cells": [{"cohort": "rms_nih_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 24, "note": null}]}, {"label": "MYCN", "kind": "SNV / small indel", "gene": "MYCN", "cells": [{"cohort": "rms_nih_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 24, "note": null}]}, {"label": "MYCN", "kind": "amplification", "gene": "MYCN", "cells": [{"cohort": "rms_nih_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 4.17, "altered": 1, "tested": 24, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "MDM2", "kind": "SNV / small indel", "gene": "MDM2", "cells": [{"cohort": "rms_nih_2014", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 24, "note": null}]}, {"label": "MDM2", "kind": "amplification", "gene": "MDM2", "cells": [{"cohort": "rms_nih_2014", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 8.33, "altered": 2, "tested": 24, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SLC6A17", "kind": "SNV / small indel", "gene": "SLC6A17", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 6.98, "altered": 3, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 6.98, "altered": 3, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 4.17, "altered": 1, "tested": 24, "note": null}]}, {"label": "NPHS1", "kind": "SNV / small indel", "gene": "NPHS1", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 6.98, "altered": 3, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NF1", "kind": "SNV / small indel", "gene": "NF1", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 6.98, "altered": 3, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 4.17, "altered": 1, "tested": 24, "note": null}]}, {"label": "FBXW7", "kind": "SNV / small indel", "gene": "FBXW7", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 6.98, "altered": 3, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 24, "note": null}]}, {"label": "BCOR", "kind": "SNV / small indel", "gene": "BCOR", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 6.98, "altered": 3, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "observed", "frequency": 4.17, "altered": 1, "tested": 24, "note": null}]}, {"label": "ZFP37", "kind": "SNV / small indel", "gene": "ZFP37", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ZAN", "kind": "SNV / small indel", "gene": "ZAN", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SNUPN", "kind": "SNV / small indel", "gene": "SNUPN", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SEC14L5", "kind": "SNV / small indel", "gene": "SEC14L5", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SASH1", "kind": "SNV / small indel", "gene": "SASH1", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PKN1", "kind": "SNV / small indel", "gene": "PKN1", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PIP5K1A", "kind": "SNV / small indel", "gene": "PIP5K1A", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PER3", "kind": "SNV / small indel", "gene": "PER3", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PDGFRA", "kind": "SNV / small indel", "gene": "PDGFRA", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 24, "note": null}]}, {"label": "LGI1", "kind": "SNV / small indel", "gene": "LGI1", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DYSF", "kind": "SNV / small indel", "gene": "DYSF", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DGKQ", "kind": "SNV / small indel", "gene": "DGKQ", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "COL12A1", "kind": "SNV / small indel", "gene": "COL12A1", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CHST5", "kind": "SNV / small indel", "gene": "CHST5", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CFAP44", "kind": "SNV / small indel", "gene": "CFAP44", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CELSR3", "kind": "SNV / small indel", "gene": "CELSR3", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CDK12", "kind": "SNV / small indel", "gene": "CDK12", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 24, "note": null}]}, {"label": "CACNA1A", "kind": "SNV / small indel", "gene": "CACNA1A", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "C1GALT1C1", "kind": "SNV / small indel", "gene": "C1GALT1C1", "cells": [{"cohort": "rms_nih_2014", "status": "observed", "frequency": 4.65, "altered": 2, "tested": 43, "note": null}, {"cohort": "rms_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}]}