{"disease": {"name": "Neuroblastoma", "mondo_id": "MONDO:0005072", "ncit_id": "NCIT:C3270", "umls_id": null, "oncotree_code": "NBL"}, "updated_at": "2026-09-09", "genome_builds": ["hg19"], "cohort_count": 6, "cohort_count_status": "observed", "cohort_count_unit": "cohorts", "evaluable_patients": null, "evaluable_patients_status": "unknown", "evaluable_patients_unit": "patients", "alteration_types": ["SNV", "small indel", "copy-number gain", "amplification", "deletion", "structural variant", "rearrangement", "fusion"], "genes": [{"gene": "ALK", "alteration_types": ["SNV", "small indel"], "altered": 29, "tested": 176, "frequency": 16.48, "cohort_count": 6, "frequency_range": {"min": 2.0, "max": 16.48}, "major_variants": ["F1174L (13 patients)", "R1275Q (6 patients)", "F1245V (3 patients)"], "evidence_confidence": "moderate", "disease_relevance": "ALK mutations are observed in every cohort whose calls cover its roster — four of the five here; TARGET 2018 is not evaluable. Biological and clinical interpretation remains source-specific.", "targetability": "Mutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort.", "Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim.", "Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators."], "sources": [{"source_name": "cBioPortal · Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_msk_2023", "source_record_id": "nbl_msk_2023", "source_version": "cBioPortal import 2026-02-10 01:35:41", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (AMC Amsterdam, Nature 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_amc_2012", "source_record_id": "nbl_amc_2012", "source_version": "cBioPortal import 2026-01-08 17:07:00", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_ucologne_2015", "source_record_id": "nbl_ucologne_2015", "source_version": "cBioPortal import 2026-01-08 17:09:47", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nat Genet 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_broad_2013", "source_record_id": "nbl_broad_2013", "source_version": "cBioPortal import 2026-01-08 17:10:23", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Neuroblastoma (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_target_2018_pub", "source_record_id": "nbl_target_2018_pub", "source_version": "cBioPortal import 2026-01-08 17:15:13", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "TARGET public data; OCG TARGET using-data and publication guidelines apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Pan-Cancer (DKFZ, Nature 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=pediatric_dkfz_2017", "source_record_id": "pediatric_dkfz_2017", "source_version": "cBioPortal import; Grobner et al. Nature 2018, PMID 29489754", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}], "derived_insights": ["Reference cohort: MSK 2023, 29/176 patients (16.48%).", "Observed in 6 of 6 source cohorts; frequencies remain cohort-specific."], "cohort_frequencies": [{"cohort": "nbl_amc_2012", "cohort_name": "Neuroblastoma (AMC Amsterdam, Nature 2012)", "altered": 5, "tested": 87, "frequency": 5.75, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "73/87", "coverage_note": null, "source_id": "nbl_amc_2012"}, {"cohort": "nbl_ucologne_2015", "cohort_name": "Neuroblastoma (Broad, Nature 2015)", "altered": 5, "tested": 56, "frequency": 8.93, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "nbl_ucologne_2015"}, {"cohort": "nbl_broad_2013", "cohort_name": "Neuroblastoma (Broad, Nat Genet 2013)", "altered": 22, "tested": 240, "frequency": 9.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "237/240", "coverage_note": null, "source_id": "nbl_broad_2013"}, {"cohort": "nbl_target_2018_pub", "cohort_name": "Pediatric Neuroblastoma (TARGET, 2018)", "altered": 64, "tested": 471, "frequency": 13.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "414/471", "coverage_note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have.", "source_id": "nbl_target_2018_pub"}, {"cohort": "pediatric_dkfz_2017", "cohort_name": "Pediatric Pan-Cancer (DKFZ, Nature 2018)", "altered": 1, "tested": 50, "frequency": 2.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "49/50", "coverage_note": null, "source_id": "pediatric_dkfz_2017"}, {"cohort": "nbl_msk_2023", "cohort_name": "Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "altered": 29, "tested": 176, "frequency": 16.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "129/176", "coverage_note": null, "source_id": "nbl_msk_2023"}], "hgnc_id": null, "ensembl_id": null, "chromosome": "2", "range_plot": {"left": 6.67, "width": 48.26, "reference": 54.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 29, "tested": 176, "frequency": 16.48, "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": "MYCN", "alteration_types": ["SNV"], "altered": 1, "tested": 176, "frequency": 0.57, "cohort_count": 4, "frequency_range": {"min": 0.0, "max": 1.67}, "major_variants": ["P44L (1 patient; 4 samples)"], "evidence_confidence": "moderate", "disease_relevance": "MYCN mutation calls are uncommon in these profiles; copy-number amplification is represented separately in the CNA event table.", "targetability": "Mutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort.", "Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim.", "Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators."], "sources": [{"source_name": "cBioPortal · Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_msk_2023", "source_record_id": "nbl_msk_2023", "source_version": "cBioPortal import 2026-02-10 01:35:41", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (AMC Amsterdam, Nature 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_amc_2012", "source_record_id": "nbl_amc_2012", "source_version": "cBioPortal import 2026-01-08 17:07:00", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_ucologne_2015", "source_record_id": "nbl_ucologne_2015", "source_version": "cBioPortal import 2026-01-08 17:09:47", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nat Genet 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_broad_2013", "source_record_id": "nbl_broad_2013", "source_version": "cBioPortal import 2026-01-08 17:10:23", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Neuroblastoma (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_target_2018_pub", "source_record_id": "nbl_target_2018_pub", "source_version": "cBioPortal import 2026-01-08 17:15:13", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "TARGET public data; OCG TARGET using-data and publication guidelines apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Pan-Cancer (DKFZ, Nature 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=pediatric_dkfz_2017", "source_record_id": "pediatric_dkfz_2017", "source_version": "cBioPortal import; Grobner et al. Nature 2018, PMID 29489754", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}], "derived_insights": ["Reference cohort: MSK 2023, 1/176 patients (0.57%).", "Observed in 4 of 6 source cohorts; frequencies remain cohort-specific."], "cohort_frequencies": [{"cohort": "nbl_amc_2012", "cohort_name": "Neuroblastoma (AMC Amsterdam, Nature 2012)", "altered": 1, "tested": 87, "frequency": 1.15, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "73/87", "coverage_note": null, "source_id": "nbl_amc_2012"}, {"cohort": "nbl_ucologne_2015", "cohort_name": "Neuroblastoma (Broad, Nature 2015)", "altered": 0, "tested": 56, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "nbl_ucologne_2015"}, {"cohort": "nbl_broad_2013", "cohort_name": "Neuroblastoma (Broad, Nat Genet 2013)", "altered": 4, "tested": 240, "frequency": 1.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "237/240", "coverage_note": null, "source_id": "nbl_broad_2013"}, {"cohort": "nbl_target_2018_pub", "cohort_name": "Pediatric Neuroblastoma (TARGET, 2018)", "altered": 6, "tested": 471, "frequency": 1.27, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "414/471", "coverage_note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have.", "source_id": "nbl_target_2018_pub"}, {"cohort": "pediatric_dkfz_2017", "cohort_name": "Pediatric Pan-Cancer (DKFZ, Nature 2018)", "altered": 0, "tested": 50, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "49/50", "coverage_note": null, "source_id": "pediatric_dkfz_2017"}, {"cohort": "nbl_msk_2023", "cohort_name": "Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "altered": 1, "tested": 176, "frequency": 0.57, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "129/176", "coverage_note": null, "source_id": "nbl_msk_2023"}], "hgnc_id": null, "ensembl_id": null, "chromosome": "2", "range_plot": {"left": 87.13, "width": 1.0, "reference": 87.13, "scale_max": 30.0}, "headline_alteration": {"kind": "high-level amplification", "altered": 46, "tested": 176, "frequency": 26.14, "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": "ATRX", "alteration_types": ["SNV", "small indel"], "altered": 15, "tested": 176, "frequency": 8.52, "cohort_count": 4, "frequency_range": {"min": 0.0, "max": 8.52}, "major_variants": ["P663Yfs*10 (1 patient)", "A1690D (1 patient)", "R1739Hfs*8 (1 patient)"], "evidence_confidence": "moderate", "disease_relevance": "ATRX mutations are observed in the Broad 2013, Cologne 2015 and MSK 2023 profiles; this page does not infer a phenotype or prognosis.", "targetability": "Mutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort.", "Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim.", "Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators."], "sources": [{"source_name": "cBioPortal · Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_msk_2023", "source_record_id": "nbl_msk_2023", "source_version": "cBioPortal import 2026-02-10 01:35:41", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (AMC Amsterdam, Nature 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_amc_2012", "source_record_id": "nbl_amc_2012", "source_version": "cBioPortal import 2026-01-08 17:07:00", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_ucologne_2015", "source_record_id": "nbl_ucologne_2015", "source_version": "cBioPortal import 2026-01-08 17:09:47", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nat Genet 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_broad_2013", "source_record_id": "nbl_broad_2013", "source_version": "cBioPortal import 2026-01-08 17:10:23", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Neuroblastoma (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_target_2018_pub", "source_record_id": "nbl_target_2018_pub", "source_version": "cBioPortal import 2026-01-08 17:15:13", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "TARGET public data; OCG TARGET using-data and publication guidelines apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Pan-Cancer (DKFZ, Nature 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=pediatric_dkfz_2017", "source_record_id": "pediatric_dkfz_2017", "source_version": "cBioPortal import; Grobner et al. Nature 2018, PMID 29489754", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}], "derived_insights": ["Reference cohort: MSK 2023, 15/176 patients (8.52%).", "Observed in 4 of 6 source cohorts; frequencies remain cohort-specific."], "cohort_frequencies": [{"cohort": "nbl_amc_2012", "cohort_name": "Neuroblastoma (AMC Amsterdam, Nature 2012)", "altered": 0, "tested": 87, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "73/87", "coverage_note": null, "source_id": "nbl_amc_2012"}, {"cohort": "nbl_ucologne_2015", "cohort_name": "Neuroblastoma (Broad, Nature 2015)", "altered": 1, "tested": 56, "frequency": 1.79, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "nbl_ucologne_2015"}, {"cohort": "nbl_broad_2013", "cohort_name": "Neuroblastoma (Broad, Nat Genet 2013)", "altered": 6, "tested": 240, "frequency": 2.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "237/240", "coverage_note": null, "source_id": "nbl_broad_2013"}, {"cohort": "nbl_target_2018_pub", "cohort_name": "Pediatric Neuroblastoma (TARGET, 2018)", "altered": 13, "tested": 471, "frequency": 2.76, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "414/471", "coverage_note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have.", "source_id": "nbl_target_2018_pub"}, {"cohort": "pediatric_dkfz_2017", "cohort_name": "Pediatric Pan-Cancer (DKFZ, Nature 2018)", "altered": 0, "tested": 50, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "49/50", "coverage_note": null, "source_id": "pediatric_dkfz_2017"}, {"cohort": "nbl_msk_2023", "cohort_name": "Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "altered": 15, "tested": 176, "frequency": 8.52, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "129/176", "coverage_note": null, "source_id": "nbl_msk_2023"}], "hgnc_id": null, "ensembl_id": null, "chromosome": "X", "range_plot": {"left": 0.0, "width": 28.4, "reference": 28.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 176, "frequency": 8.52, "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": "TERT", "alteration_types": ["SNV", "promoter variant"], "altered": 7, "tested": 176, "frequency": 3.98, "cohort_count": 1, "frequency_range": {"min": 3.98, "max": 3.98}, "major_variants": ["Promoter (5 patients)", "R466W (1 patient)", "S838Y (1 patient)"], "evidence_confidence": "moderate", "disease_relevance": "TERT promoter and coding mutations are observed in the MSK profile; promoter calls are retained as a separate event type.", "targetability": "Mutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort.", "Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim.", "Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators."], "sources": [{"source_name": "cBioPortal · Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_msk_2023", "source_record_id": "nbl_msk_2023", "source_version": "cBioPortal import 2026-02-10 01:35:41", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (AMC Amsterdam, Nature 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_amc_2012", "source_record_id": "nbl_amc_2012", "source_version": "cBioPortal import 2026-01-08 17:07:00", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_ucologne_2015", "source_record_id": "nbl_ucologne_2015", "source_version": "cBioPortal import 2026-01-08 17:09:47", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nat Genet 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_broad_2013", "source_record_id": "nbl_broad_2013", "source_version": "cBioPortal import 2026-01-08 17:10:23", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Neuroblastoma (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_target_2018_pub", "source_record_id": "nbl_target_2018_pub", "source_version": "cBioPortal import 2026-01-08 17:15:13", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "TARGET public data; OCG TARGET using-data and publication guidelines apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Pan-Cancer (DKFZ, Nature 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=pediatric_dkfz_2017", "source_record_id": "pediatric_dkfz_2017", "source_version": "cBioPortal import; Grobner et al. Nature 2018, PMID 29489754", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}], "derived_insights": ["Reference cohort: MSK 2023, 7/176 patients (3.98%).", "Observed in 1 of 6 source cohorts; frequencies remain cohort-specific."], "cohort_frequencies": [{"cohort": "nbl_amc_2012", "cohort_name": "Neuroblastoma (AMC Amsterdam, Nature 2012)", "altered": null, "tested": 87, "frequency": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Coding variants were assayed; the TERT promoter was not reported in this study's mutation profile. The recurrent neuroblastoma alteration is in the promoter, so a zero here is missing coverage rather than absence.", "evaluable": false, "coverage": "73/87", "coverage_note": null, "source_id": "nbl_amc_2012"}, {"cohort": "nbl_ucologne_2015", "cohort_name": "Neuroblastoma (Broad, Nature 2015)", "altered": null, "tested": 56, "frequency": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Coding variants were assayed; the TERT promoter was not reported in this study's mutation profile. The recurrent neuroblastoma alteration is in the promoter, so a zero here is missing coverage rather than absence.", "evaluable": false, "coverage": "56/56", "coverage_note": null, "source_id": "nbl_ucologne_2015"}, {"cohort": "nbl_broad_2013", "cohort_name": "Neuroblastoma (Broad, Nat Genet 2013)", "altered": null, "tested": 240, "frequency": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Coding variants were assayed; the TERT promoter was not reported in this study's mutation profile. The recurrent neuroblastoma alteration is in the promoter, so a zero here is missing coverage rather than absence.", "evaluable": false, "coverage": "237/240", "coverage_note": null, "source_id": "nbl_broad_2013"}, {"cohort": "nbl_target_2018_pub", "cohort_name": "Pediatric Neuroblastoma (TARGET, 2018)", "altered": null, "tested": 471, "frequency": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Coding variants were assayed; the TERT promoter was not reported in this study's mutation profile. The recurrent neuroblastoma alteration is in the promoter, so a zero here is missing coverage rather than absence.", "evaluable": false, "coverage": "414/471", "coverage_note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have.", "source_id": "nbl_target_2018_pub"}, {"cohort": "pediatric_dkfz_2017", "cohort_name": "Pediatric Pan-Cancer (DKFZ, Nature 2018)", "altered": null, "tested": 50, "frequency": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Coding variants were assayed; the TERT promoter was not reported in this study's mutation profile. The recurrent neuroblastoma alteration is in the promoter, so a zero here is missing coverage rather than absence.", "evaluable": false, "coverage": "49/50", "coverage_note": null, "source_id": "pediatric_dkfz_2017"}, {"cohort": "nbl_msk_2023", "cohort_name": "Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "altered": 7, "tested": 176, "frequency": 3.98, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "129/176", "coverage_note": null, "source_id": "nbl_msk_2023"}], "hgnc_id": null, "ensembl_id": null, "chromosome": "5", "range_plot": {"left": 13.27, "width": 1.0, "reference": 13.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 176, "frequency": 3.98, "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": "TP53", "alteration_types": ["SNV"], "altered": 2, "tested": 176, "frequency": 1.14, "cohort_count": 4, "frequency_range": {"min": 0.0, "max": 2.0}, "major_variants": ["Y234* (1 patient; 2 samples)", "G154V (1 patient)"], "evidence_confidence": "moderate", "disease_relevance": "TP53 mutations are observed in two source cohorts; the snapshot does not classify disease subtype or treatment response.", "targetability": "Mutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort.", "Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim.", "Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators."], "sources": [{"source_name": "cBioPortal · Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_msk_2023", "source_record_id": "nbl_msk_2023", "source_version": "cBioPortal import 2026-02-10 01:35:41", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (AMC Amsterdam, Nature 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_amc_2012", "source_record_id": "nbl_amc_2012", "source_version": "cBioPortal import 2026-01-08 17:07:00", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_ucologne_2015", "source_record_id": "nbl_ucologne_2015", "source_version": "cBioPortal import 2026-01-08 17:09:47", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nat Genet 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_broad_2013", "source_record_id": "nbl_broad_2013", "source_version": "cBioPortal import 2026-01-08 17:10:23", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Neuroblastoma (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_target_2018_pub", "source_record_id": "nbl_target_2018_pub", "source_version": "cBioPortal import 2026-01-08 17:15:13", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "TARGET public data; OCG TARGET using-data and publication guidelines apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Pan-Cancer (DKFZ, Nature 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=pediatric_dkfz_2017", "source_record_id": "pediatric_dkfz_2017", "source_version": "cBioPortal import; Grobner et al. Nature 2018, PMID 29489754", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}], "derived_insights": ["Reference cohort: MSK 2023, 2/176 patients (1.14%).", "Observed in 4 of 6 source cohorts; frequencies remain cohort-specific."], "cohort_frequencies": [{"cohort": "nbl_amc_2012", "cohort_name": "Neuroblastoma (AMC Amsterdam, Nature 2012)", "altered": 0, "tested": 87, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "73/87", "coverage_note": null, "source_id": "nbl_amc_2012"}, {"cohort": "nbl_ucologne_2015", "cohort_name": "Neuroblastoma (Broad, Nature 2015)", "altered": 0, "tested": 56, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "nbl_ucologne_2015"}, {"cohort": "nbl_broad_2013", "cohort_name": "Neuroblastoma (Broad, Nat Genet 2013)", "altered": 1, "tested": 240, "frequency": 0.42, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "237/240", "coverage_note": null, "source_id": "nbl_broad_2013"}, {"cohort": "nbl_target_2018_pub", "cohort_name": "Pediatric Neuroblastoma (TARGET, 2018)", "altered": 3, "tested": 471, "frequency": 0.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "414/471", "coverage_note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have.", "source_id": "nbl_target_2018_pub"}, {"cohort": "pediatric_dkfz_2017", "cohort_name": "Pediatric Pan-Cancer (DKFZ, Nature 2018)", "altered": 1, "tested": 50, "frequency": 2.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "49/50", "coverage_note": null, "source_id": "pediatric_dkfz_2017"}, {"cohort": "nbl_msk_2023", "cohort_name": "Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "altered": 2, "tested": 176, "frequency": 1.14, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "129/176", "coverage_note": null, "source_id": "nbl_msk_2023"}], "hgnc_id": null, "ensembl_id": null, "chromosome": "17", "range_plot": {"left": 0.0, "width": 6.67, "reference": 3.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 176, "frequency": 1.14, "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": "PHOX2B", "alteration_types": ["small indel"], "altered": 2, "tested": 176, "frequency": 1.14, "cohort_count": 3, "frequency_range": {"min": 0.0, "max": 2.0}, "major_variants": ["G272Rfs*88 (1 patient)", "P290Sfs*70 (1 patient)"], "evidence_confidence": "moderate", "disease_relevance": "PHOX2B mutation calls are observed in the MSK profile; germline susceptibility and tumor mutation evidence must remain separate.", "targetability": "Mutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort.", "Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim.", "Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators."], "sources": [{"source_name": "cBioPortal · Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_msk_2023", "source_record_id": "nbl_msk_2023", "source_version": "cBioPortal import 2026-02-10 01:35:41", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (AMC Amsterdam, Nature 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_amc_2012", "source_record_id": "nbl_amc_2012", "source_version": "cBioPortal import 2026-01-08 17:07:00", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_ucologne_2015", "source_record_id": "nbl_ucologne_2015", "source_version": "cBioPortal import 2026-01-08 17:09:47", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nat Genet 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_broad_2013", "source_record_id": "nbl_broad_2013", "source_version": "cBioPortal import 2026-01-08 17:10:23", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Neuroblastoma (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_target_2018_pub", "source_record_id": "nbl_target_2018_pub", "source_version": "cBioPortal import 2026-01-08 17:15:13", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "TARGET public data; OCG TARGET using-data and publication guidelines apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Pan-Cancer (DKFZ, Nature 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=pediatric_dkfz_2017", "source_record_id": "pediatric_dkfz_2017", "source_version": "cBioPortal import; Grobner et al. Nature 2018, PMID 29489754", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}], "derived_insights": ["Reference cohort: MSK 2023, 2/176 patients (1.14%).", "Observed in 3 of 6 source cohorts; frequencies remain cohort-specific."], "cohort_frequencies": [{"cohort": "nbl_amc_2012", "cohort_name": "Neuroblastoma (AMC Amsterdam, Nature 2012)", "altered": 0, "tested": 87, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "73/87", "coverage_note": null, "source_id": "nbl_amc_2012"}, {"cohort": "nbl_ucologne_2015", "cohort_name": "Neuroblastoma (Broad, Nature 2015)", "altered": 0, "tested": 56, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "nbl_ucologne_2015"}, {"cohort": "nbl_broad_2013", "cohort_name": "Neuroblastoma (Broad, Nat Genet 2013)", "altered": 0, "tested": 240, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "237/240", "coverage_note": null, "source_id": "nbl_broad_2013"}, {"cohort": "nbl_target_2018_pub", "cohort_name": "Pediatric Neuroblastoma (TARGET, 2018)", "altered": 2, "tested": 471, "frequency": 0.42, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "414/471", "coverage_note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have.", "source_id": "nbl_target_2018_pub"}, {"cohort": "pediatric_dkfz_2017", "cohort_name": "Pediatric Pan-Cancer (DKFZ, Nature 2018)", "altered": 1, "tested": 50, "frequency": 2.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "49/50", "coverage_note": null, "source_id": "pediatric_dkfz_2017"}, {"cohort": "nbl_msk_2023", "cohort_name": "Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "altered": 2, "tested": 176, "frequency": 1.14, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "129/176", "coverage_note": null, "source_id": "nbl_msk_2023"}], "hgnc_id": null, "ensembl_id": null, "chromosome": "4", "range_plot": {"left": 0.0, "width": 6.67, "reference": 3.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 176, "frequency": 1.14, "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": "BARD1", "alteration_types": ["SNV", "small indel"], "altered": 0, "tested": 176, "frequency": 0.0, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.21}, "major_variants": ["none observed in the selected mutation profiles"], "evidence_confidence": "moderate", "disease_relevance": "No BARD1 mutation call is present in the selected public mutation profiles; this is not evidence against germline risk.", "targetability": "Mutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort.", "Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim.", "Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators."], "sources": [{"source_name": "cBioPortal · Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_msk_2023", "source_record_id": "nbl_msk_2023", "source_version": "cBioPortal import 2026-02-10 01:35:41", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (AMC Amsterdam, Nature 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_amc_2012", "source_record_id": "nbl_amc_2012", "source_version": "cBioPortal import 2026-01-08 17:07:00", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_ucologne_2015", "source_record_id": "nbl_ucologne_2015", "source_version": "cBioPortal import 2026-01-08 17:09:47", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nat Genet 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_broad_2013", "source_record_id": "nbl_broad_2013", "source_version": "cBioPortal import 2026-01-08 17:10:23", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Neuroblastoma (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_target_2018_pub", "source_record_id": "nbl_target_2018_pub", "source_version": "cBioPortal import 2026-01-08 17:15:13", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "TARGET public data; OCG TARGET using-data and publication guidelines apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Pan-Cancer (DKFZ, Nature 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=pediatric_dkfz_2017", "source_record_id": "pediatric_dkfz_2017", "source_version": "cBioPortal import; Grobner et al. Nature 2018, PMID 29489754", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}], "derived_insights": ["Reference cohort: MSK 2023, 0/176 patients (0.0%).", "Observed in 1 of 6 source cohorts; frequencies remain cohort-specific."], "cohort_frequencies": [{"cohort": "nbl_amc_2012", "cohort_name": "Neuroblastoma (AMC Amsterdam, Nature 2012)", "altered": 0, "tested": 87, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "73/87", "coverage_note": null, "source_id": "nbl_amc_2012"}, {"cohort": "nbl_ucologne_2015", "cohort_name": "Neuroblastoma (Broad, Nature 2015)", "altered": 0, "tested": 56, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "nbl_ucologne_2015"}, {"cohort": "nbl_broad_2013", "cohort_name": "Neuroblastoma (Broad, Nat Genet 2013)", "altered": 0, "tested": 240, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "237/240", "coverage_note": null, "source_id": "nbl_broad_2013"}, {"cohort": "nbl_target_2018_pub", "cohort_name": "Pediatric Neuroblastoma (TARGET, 2018)", "altered": 1, "tested": 471, "frequency": 0.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "414/471", "coverage_note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have.", "source_id": "nbl_target_2018_pub"}, {"cohort": "pediatric_dkfz_2017", "cohort_name": "Pediatric Pan-Cancer (DKFZ, Nature 2018)", "altered": 0, "tested": 50, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "49/50", "coverage_note": null, "source_id": "pediatric_dkfz_2017"}, {"cohort": "nbl_msk_2023", "cohort_name": "Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "altered": 0, "tested": 176, "frequency": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "129/176", "coverage_note": null, "source_id": "nbl_msk_2023"}], "hgnc_id": null, "ensembl_id": null, "chromosome": "2", "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 176, "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": "observed", "cohort_count_unit": "cohorts"}], "variants": [{"gene": "ALK", "genomic_coordinate": "2:29443695", "reference_allele": "G", "alternate_allele": "C", "transcript": null, "hgvs_c": null, "hgvs_p": "F1174L", "consequence": "Missense_Mutation", "variant_class": "SNV", "number_observed": {"value": 13, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "ALK", "genomic_coordinate": "2:29432664", "reference_allele": "C", "alternate_allele": "T", "transcript": null, "hgvs_c": null, "hgvs_p": "R1275Q", "consequence": "Missense_Mutation", "variant_class": "SNV", "number_observed": {"value": 6, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "ALK", "genomic_coordinate": "2:29436860", "reference_allele": "A", "alternate_allele": "C", "transcript": null, "hgvs_c": null, "hgvs_p": "F1245V", "consequence": "Missense_Mutation", "variant_class": "SNV", "number_observed": {"value": 3, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "MYCN", "genomic_coordinate": "2:16082317", "reference_allele": "C", "alternate_allele": "T", "transcript": null, "hgvs_c": null, "hgvs_p": "P44L", "consequence": "Missense_Mutation", "variant_class": "SNV", "number_observed": {"value": 1, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "ATRX", "genomic_coordinate": "X:76938761-76938762", "reference_allele": "-", "alternate_allele": "TGTA", "transcript": null, "hgvs_c": null, "hgvs_p": "P663Yfs*10", "consequence": "Frame_Shift_Ins", "variant_class": "small indel", "number_observed": {"value": 1, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "ATRX", "genomic_coordinate": "X:76888760", "reference_allele": "G", "alternate_allele": "T", "transcript": null, "hgvs_c": null, "hgvs_p": "A1690D", "consequence": "Missense_Mutation", "variant_class": "SNV", "number_observed": {"value": 1, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "ATRX", "genomic_coordinate": "X:76875919", "reference_allele": "C", "alternate_allele": "-", "transcript": null, "hgvs_c": null, "hgvs_p": "R1739Hfs*8", "consequence": "Frame_Shift_Del", "variant_class": "small indel", "number_observed": {"value": 1, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "TERT", "genomic_coordinate": "5:1295228", "reference_allele": "G", "alternate_allele": "A", "transcript": null, "hgvs_c": null, "hgvs_p": "Promoter", "consequence": "5'Flank", "variant_class": "regulatory SNV", "number_observed": {"value": 5, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "TERT", "genomic_coordinate": "5:1293605", "reference_allele": "G", "alternate_allele": "A", "transcript": null, "hgvs_c": null, "hgvs_p": "R466W", "consequence": "Missense_Mutation", "variant_class": "SNV", "number_observed": {"value": 1, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "TERT", "genomic_coordinate": "5:1268704", "reference_allele": "G", "alternate_allele": "T", "transcript": null, "hgvs_c": null, "hgvs_p": "S838Y", "consequence": "Missense_Mutation", "variant_class": "SNV", "number_observed": {"value": 1, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "TP53", "genomic_coordinate": "17:7577579", "reference_allele": "G", "alternate_allele": "T", "transcript": null, "hgvs_c": null, "hgvs_p": "Y234*", "consequence": "Nonsense_Mutation", "variant_class": "SNV", "number_observed": {"value": 1, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "TP53", "genomic_coordinate": "17:7578469", "reference_allele": "C", "alternate_allele": "A", "transcript": null, "hgvs_c": null, "hgvs_p": "G154V", "consequence": "Missense_Mutation", "variant_class": "SNV", "number_observed": {"value": 1, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "PHOX2B", "genomic_coordinate": "4:41747955-41747956", "reference_allele": "-", "alternate_allele": "T", "transcript": null, "hgvs_c": null, "hgvs_p": "G272Rfs*88", "consequence": "Frame_Shift_Ins", "variant_class": "small indel", "number_observed": {"value": 1, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}, {"gene": "PHOX2B", "genomic_coordinate": "4:41747902-41747903", "reference_allele": "-", "alternate_allele": "C", "transcript": null, "hgvs_c": null, "hgvs_p": "P290Sfs*70", "consequence": "Frame_Shift_Ins", "variant_class": "small indel", "number_observed": {"value": 1, "status": "observed", "unit": "patients"}, "number_tested": {"value": 176, "status": "observed", "unit": "patients"}, "diseases": ["Neuroblastoma"], "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023"], "status": "observed", "dbsnp_id": null, "clinvar_id": null}], "genomic_events": [{"event_type": "copy_number", "gene": "MYCN", "denominator_note": "59 of the cohort's 471 patients have a copy-number profile; this frequency is of those 59, not of the cohort.", "partner_gene": null, "alteration": "high-level amplification", "event_label": "MYCN high-level amplification", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 59, "tested_status": "observed", "tested_unit": "patients", "frequency": 18.64, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_target_2018_pub"], "source_ids": ["nbl_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "copy_number", "gene": "ALK", "denominator_note": "59 of the cohort's 471 patients have a copy-number profile; this frequency is of those 59, not of the cohort.", "partner_gene": null, "alteration": "high-level amplification", "event_label": "ALK high-level amplification", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 59, "tested_status": "observed", "tested_unit": "patients", "frequency": 1.69, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_target_2018_pub"], "source_ids": ["nbl_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "copy_number", "gene": "ATRX", "denominator_note": "59 of the cohort's 471 patients have a copy-number profile; this frequency is of those 59, not of the cohort.", "partner_gene": null, "alteration": "homozygous deletion", "event_label": "ATRX homozygous deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 59, "tested_status": "observed", "tested_unit": "patients", "frequency": 1.69, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_target_2018_pub"], "source_ids": ["nbl_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "copy_number", "gene": "TERT", "denominator_note": "59 of the cohort's 471 patients have a copy-number profile; this frequency is of those 59, not of the cohort.", "partner_gene": null, "alteration": "high-level amplification", "event_label": "TERT high-level amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 59, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.39, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_target_2018_pub"], "source_ids": ["nbl_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "copy_number", "gene": "BARD1", "denominator_note": "59 of the cohort's 471 patients have a copy-number profile; this frequency is of those 59, not of the cohort.", "partner_gene": null, "alteration": "homozygous deletion", "event_label": "BARD1 homozygous deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 59, "tested_status": "observed", "tested_unit": "patients", "frequency": 1.69, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_target_2018_pub"], "source_ids": ["nbl_target_2018_pub_gistic"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "copy_number", "gene": "MYCN", "denominator_note": null, "partner_gene": null, "alteration": "high-level amplification", "event_label": "MYCN high-level amplification", "genomic_coordinate": null, "observed": 46, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 26.14, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_cna"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "copy_number", "gene": "ALK", "denominator_note": null, "partner_gene": null, "alteration": "high-level amplification", "event_label": "ALK high-level amplification", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.27, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_cna"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "copy_number", "gene": "ATRX", "denominator_note": null, "partner_gene": null, "alteration": "homozygous deletion", "event_label": "ATRX homozygous deletion", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.41, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_cna"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "copy_number", "gene": "TERT", "denominator_note": null, "partner_gene": null, "alteration": "high-level amplification", "event_label": "TERT high-level amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 1.7, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_cna"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "copy_number", "gene": "TERT", "denominator_note": null, "partner_gene": null, "alteration": "homozygous deletion", "event_label": "TERT homozygous deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 0.57, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_cna"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "copy_number", "gene": "TP53", "denominator_note": null, "partner_gene": null, "alteration": "high-level amplification", "event_label": "TP53 high-level amplification", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 0.57, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_cna"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "copy_number", "gene": "TP53", "denominator_note": null, "partner_gene": null, "alteration": "homozygous deletion", "event_label": "TP53 homozygous deletion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 0.57, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_cna"], "evidence_confidence": "moderate", "details": "Discrete GISTIC call; event-specific CNA denominator retained."}, {"event_type": "structural_variant", "gene": "Genome-wide", "denominator_note": "19 of the cohort's 240 patients have a structural-variant profile; this frequency is of those 19, not of the cohort.", "partner_gene": null, "alteration": "structural variant", "event_label": "79 SV records", "genomic_coordinate": null, "observed": 16, "observed_status": "observed", "observed_unit": "patients", "tested": 19, "tested_status": "observed", "tested_unit": "patients", "frequency": 84.21, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_broad_2013"], "source_ids": ["nbl_broad_2013_structural_variants"], "evidence_confidence": "moderate", "details": "79 records across 16 patients; 30 of them name a fusion in eventInfo"}, {"event_type": "fusion", "gene": "Genome-wide", "denominator_note": "19 of the cohort's 240 patients have a structural-variant profile; this frequency is of those 19, not of the cohort.", "partner_gene": null, "alteration": "fusion", "event_label": "Fusion-annotated SV records", "genomic_coordinate": null, "observed": 13, "observed_status": "observed", "observed_unit": "patients", "tested": 19, "tested_status": "observed", "tested_unit": "patients", "frequency": 68.42, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_broad_2013"], "source_ids": ["nbl_broad_2013_structural_variants"], "evidence_confidence": "moderate", "details": "30 rows across 13 patients, counted as rows whose cBioPortal eventInfo names a fusion, not rows with two named partner genes -- those are 75 and 26 respectively in Broad 2013. Functional impact is not established: variantClass is NA on every row."}, {"event_type": "fusion", "gene": "MYCN", "denominator_note": "19 of the cohort's 240 patients have a structural-variant profile; this frequency is of those 19, not of the cohort.", "partner_gene": "GULP1", "alteration": "fusion", "event_label": "MYCN–GULP1 fusion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 19, "tested_status": "observed", "tested_unit": "patients", "frequency": 5.26, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_broad_2013"], "source_ids": ["nbl_broad_2013_structural_variants"], "evidence_confidence": "moderate", "details": "Fusion annotation from the Broad 2013 SV profile; breakpoints were not supplied"}, {"event_type": "structural_variant", "gene": "Genome-wide", "denominator_note": null, "partner_gene": null, "alteration": "structural variant", "event_label": "16 SV records", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.25, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_structural_variants"], "evidence_confidence": "moderate", "details": "16 records across 11 patients in the MSK SV profile"}, {"event_type": "fusion", "gene": "Genome-wide", "denominator_note": null, "partner_gene": null, "alteration": "fusion", "event_label": "Fusion-annotated SV records", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 1.7, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_structural_variants"], "evidence_confidence": "moderate", "details": "4 rows across 3 patients, counted as rows whose cBioPortal eventInfo names a fusion, not rows with two named partner genes -- those are 75 and 26 respectively in Broad 2013. Functional impact is not established."}, {"event_type": "structural_variant", "gene": "ALK", "denominator_note": null, "partner_gene": "ALK", "alteration": "structural variant", "event_label": "Intragenic ALK duplication", "genomic_coordinate": "GRCh37:2:29448689–2:29572365", "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 0.57, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_structural_variants"], "evidence_confidence": "moderate", "details": "GRCh37:2:29448689–2:29572365; predicted in-frame duplication"}, {"event_type": "fusion", "gene": "ARID1A", "denominator_note": null, "partner_gene": "SFN", "alteration": "fusion", "event_label": "ARID1A–SFN transcript fusion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 0.57, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_structural_variants"], "evidence_confidence": "moderate", "details": "Deletion-class SV with transcript-fusion annotation"}, {"event_type": "fusion", "gene": "ATRX", "denominator_note": null, "partner_gene": "ATRX", "alteration": "fusion", "event_label": "ATRX antisense fusion", "genomic_coordinate": "GRCh37:X:76909487–X:77030840", "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 0.57, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_structural_variants"], "evidence_confidence": "moderate", "details": "GRCh37:X:76909487–X:77030840; intragenic inversion"}, {"event_type": "fusion", "gene": "VAX2", "denominator_note": null, "partner_gene": "TMEM127", "alteration": "fusion", "event_label": "VAX2–TMEM127 protein fusion", "genomic_coordinate": null, "observed": 1, "observed_status": "observed", "observed_unit": "patients", "tested": 176, "tested_status": "observed", "tested_unit": "patients", "frequency": 0.57, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["nbl_msk_2023"], "source_ids": ["nbl_msk_2023_structural_variants"], "evidence_confidence": "moderate", "details": "Inversion-class SV with mid-exon protein-fusion annotation"}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 6, "total_cohorts": 6, "coverage_percent": 100.0, "status": "loaded", "source_ids": ["nbl_amc_2012", "nbl_ucologne_2015", "nbl_broad_2013", "nbl_target_2018_pub", "pediatric_dkfz_2017", "nbl_msk_2023"]}, {"modality": "Copy-number alteration", "available_cohorts": 2, "total_cohorts": 6, "coverage_percent": 33.3, "status": "partial", "source_ids": ["nbl_target_2018_pub_gistic", "nbl_msk_2023_cna"]}, {"modality": "Structural variant", "available_cohorts": 2, "total_cohorts": 6, "coverage_percent": 33.3, "status": "partial", "source_ids": ["nbl_broad_2013_structural_variants", "nbl_msk_2023_structural_variants"]}, {"modality": "Fusion-annotated SV", "available_cohorts": 2, "total_cohorts": 6, "coverage_percent": 33.3, "status": "partial", "source_ids": ["nbl_broad_2013_structural_variants", "nbl_msk_2023_structural_variants"]}], "chromosome_summary": [{"chromosome": "2", "genes": ["ALK", "MYCN", "BARD1"], "mutation_records": 149, "gene_patient_observations": 139, "representative_variants": 4, "copy_number_events": 5, "structural_events": 1, "fusion_events": 1, "mutation_percent_of_max": 100.0, "source_ids": ["nbl_amc_2012", "nbl_ucologne_2015", "nbl_broad_2013", "nbl_target_2018_pub", "pediatric_dkfz_2017", "nbl_msk_2023"], "scope": "Selected 7 genes; mutation rows summed across 6 cohorts; patients are not pooled."}, {"chromosome": "4", "genes": ["PHOX2B"], "mutation_records": 5, "gene_patient_observations": 5, "representative_variants": 2, "copy_number_events": 0, "structural_events": 0, "fusion_events": 0, "mutation_percent_of_max": 3.36, "source_ids": ["nbl_amc_2012", "nbl_ucologne_2015", "nbl_broad_2013", "nbl_target_2018_pub", "pediatric_dkfz_2017", "nbl_msk_2023"], "scope": "Selected 7 genes; mutation rows summed across 6 cohorts; patients are not pooled."}, {"chromosome": "5", "genes": ["TERT"], "mutation_records": 7, "gene_patient_observations": 7, "representative_variants": 3, "copy_number_events": 3, "structural_events": 0, "fusion_events": 0, "mutation_percent_of_max": 4.7, "source_ids": ["nbl_amc_2012", "nbl_ucologne_2015", "nbl_broad_2013", "nbl_target_2018_pub", "pediatric_dkfz_2017", "nbl_msk_2023"], "scope": "Selected 7 genes; mutation rows summed across 6 cohorts; patients are not pooled."}, {"chromosome": "17", "genes": ["TP53"], "mutation_records": 8, "gene_patient_observations": 7, "representative_variants": 2, "copy_number_events": 2, "structural_events": 0, "fusion_events": 0, "mutation_percent_of_max": 5.37, "source_ids": ["nbl_amc_2012", "nbl_ucologne_2015", "nbl_broad_2013", "nbl_target_2018_pub", "pediatric_dkfz_2017", "nbl_msk_2023"], "scope": "Selected 7 genes; mutation rows summed across 6 cohorts; patients are not pooled."}, {"chromosome": "X", "genes": ["ATRX"], "mutation_records": 45, "gene_patient_observations": 35, "representative_variants": 3, "copy_number_events": 2, "structural_events": 0, "fusion_events": 1, "mutation_percent_of_max": 30.2, "source_ids": ["nbl_amc_2012", "nbl_ucologne_2015", "nbl_broad_2013", "nbl_target_2018_pub", "pediatric_dkfz_2017", "nbl_msk_2023"], "scope": "Selected 7 genes; mutation rows summed across 6 cohorts; patients are not pooled."}], "cohorts": [{"name": "Neuroblastoma (AMC Amsterdam, Nature 2012)", "source": "cBioPortal", "accession": "nbl_amc_2012", "patients": {"value": 87, "status": "observed", "unit": "patients"}, "samples": {"value": 87, "status": "observed", "unit": "samples"}, "disease_subtype": "Primary neuroblastoma", "assay_type": "Whole-genome sequencing", "sequencing_method": "WGS tumor/normal pairs", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "Genome-wide mutation profile; no CNA/SV profile connected", "primary_or_metastatic": "Primary tumors", "age_group": "Pediatric study cohort", "retrieved_at": "2026-09-09", "licence": "cBioPortal public study; original study terms apply", "source_record_id": "nbl_amc_2012", "is_demo": false, "assay_coverage": {"patients_with_calls": 73, "patients_in_roster": 87, "frequencies_computed": true, "coverage_threshold": 0.5}}, {"name": "Neuroblastoma (Broad, Nature 2015)", "source": "cBioPortal", "accession": "nbl_ucologne_2015", "patients": {"value": 56, "status": "observed", "unit": "patients"}, "samples": {"value": 56, "status": "observed", "unit": "samples"}, "disease_subtype": "Neuroblastoma", "assay_type": "Whole-genome sequencing", "sequencing_method": "WGS tumor/normal pairs", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "Genome-wide mutation profile; no CNA/SV profile connected", "primary_or_metastatic": "Tumor/normal pairs; status not harmonized", "age_group": "Pediatric study cohort", "retrieved_at": "2026-09-09", "licence": "cBioPortal public study; original study terms apply", "source_record_id": "nbl_ucologne_2015", "is_demo": false, "assay_coverage": {"patients_with_calls": 56, "patients_in_roster": 56, "frequencies_computed": true, "coverage_threshold": 0.5}}, {"name": "Neuroblastoma (Broad, Nat Genet 2013)", "source": "cBioPortal", "accession": "nbl_broad_2013", "patients": {"value": 240, "status": "observed", "unit": "patients"}, "samples": {"value": 240, "status": "observed", "unit": "samples"}, "disease_subtype": "High-risk neuroblastoma", "assay_type": "Whole-genome and whole-exome sequencing", "sequencing_method": "WGS/WES tumor/normal pairs", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "structural variant"], "genes_assayed": "Genome-wide mutation profile plus structural-variant profile", "primary_or_metastatic": "Tumor/normal pairs; status not harmonized", "age_group": "Pediatric study cohort", "retrieved_at": "2026-09-09", "licence": "cBioPortal public study; original study terms apply", "source_record_id": "nbl_broad_2013", "is_demo": false, "assay_coverage": {"patients_with_calls": 237, "patients_in_roster": 240, "frequencies_computed": true, "coverage_threshold": 0.5}}, {"name": "Pediatric Neuroblastoma (TARGET, 2018)", "source": "cBioPortal", "accession": "nbl_target_2018_pub", "patients": {"value": 471, "status": "observed", "unit": "patients"}, "samples": {"value": 533, "status": "observed", "unit": "samples"}, "disease_subtype": "Pediatric neuroblastoma", "assay_type": "Whole-genome or whole-exome sequencing", "sequencing_method": "WGS/WES", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "copy-number alteration"], "genes_assayed": "Mutation calls from the 2025 GDC reprocessing (nbl_target_gdc_mutations, 414/471 samples called); copy-number from the 2018 release's GISTIC profile, which the GDC study does not carry", "primary_or_metastatic": "Tumor/normal pairs; status not harmonized", "age_group": "Pediatric study cohort", "retrieved_at": "2026-09-09", "licence": "TARGET public data; OCG TARGET using-data and publication guidelines apply", "source_record_id": "nbl_target_2018_pub", "is_demo": false, "assay_coverage": {"patients_with_calls": 414, "patients_in_roster": 471, "note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have.", "frequencies_computed": true, "coverage_threshold": 0.5}}, {"name": "Pediatric Pan-Cancer (DKFZ, Nature 2018)", "source": "cBioPortal", "accession": "pediatric_dkfz_2017", "patients": {"value": 50, "status": "observed", "unit": "patients"}, "samples": {"value": 59, "status": "observed", "unit": "samples"}, "disease_subtype": "Neuroblastoma subset of a pan-cancer study", "assay_type": "Whole-genome and whole-exome sequencing", "sequencing_method": "WGS/WES tumor/normal pairs", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "Genome-wide mutation profile; no copy-number or structural-variant profile is connected for this study", "primary_or_metastatic": "Primary pediatric tumours; status not harmonized", "age_group": "Pediatric study cohort", "retrieved_at": "2026-09-09", "licence": "cBioPortal public study; original study terms apply", "source_record_id": "pediatric_dkfz_2017", "is_demo": false, "assay_coverage": {"patients_with_calls": 49, "patients_in_roster": 50, "frequencies_computed": true, "coverage_threshold": 0.5}}, {"name": "Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "source": "cBioPortal", "accession": "nbl_msk_2023", "patients": {"value": 176, "status": "observed", "unit": "patients"}, "samples": {"value": 223, "status": "observed", "unit": "samples"}, "disease_subtype": "Pediatric neuroblastoma", "assay_type": "Targeted DNA sequencing", "sequencing_method": "MSK-IMPACT 341/410/468/505; one HEME-400 profile", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "copy-number alteration", "structural variant"], "genes_assayed": "Panel coverage retained per sample; all seven genes plus GISTIC CNA/SV profiles", "primary_or_metastatic": "Tumor/normal pairs; primary/relapse not harmonized", "age_group": "Pediatric study cohort", "retrieved_at": "2026-09-09", "licence": "cBioPortal public study; original study terms apply", "source_record_id": "nbl_msk_2023", "is_demo": false, "assay_coverage": {"patients_with_calls": 129, "patients_in_roster": 176, "frequencies_computed": true, "coverage_threshold": 0.5}}], "sources": [{"source_name": "cBioPortal · Neuroblastoma (AMC Amsterdam, Nature 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_amc_2012", "source_record_id": "nbl_amc_2012", "source_version": "cBioPortal import 2026-01-08 17:07:00", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_ucologne_2015", "source_record_id": "nbl_ucologne_2015", "source_version": "cBioPortal import 2026-01-08 17:09:47", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Neuroblastoma (Broad, Nat Genet 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_broad_2013", "source_record_id": "nbl_broad_2013", "source_version": "cBioPortal import 2026-01-08 17:10:23", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Neuroblastoma (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_target_2018_pub", "source_record_id": "nbl_target_2018_pub", "source_version": "cBioPortal import 2026-01-08 17:15:13", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "TARGET public data; OCG TARGET using-data and publication guidelines apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Pan-Cancer (DKFZ, Nature 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=pediatric_dkfz_2017", "source_record_id": "pediatric_dkfz_2017", "source_version": "cBioPortal import; Grobner et al. Nature 2018, PMID 29489754", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}, {"source_name": "cBioPortal · Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_msk_2023", "source_record_id": "nbl_msk_2023", "source_version": "cBioPortal import 2026-02-10 01:35:41", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}], "limitations": ["This is a cBioPortal public API snapshot retrieved 2026-09-08; the local page does not refresh source data at request time.", "Headline gene metrics use the MSK 2023 mutation profile as a reference cohort (176 unique patients); historical cohorts remain separate.", "Cohort patient counts are deduplicated within each study's sequenced sample list. Cross-study overlap has not been checked, so no pooled patient total is reported.", "Copy-number calls are available for TARGET and MSK; structural-variant/fusion profiles are available for Broad 2013 and MSK 2023. Other cohorts do not have these profiles connected.", "GISTIC values are discrete copy-number calls and SV fusion annotations do not establish a functional driver fusion.", "Chromosome rollups cover the seven selected genes and events anchored to those genes; they are not a genome-wide mutation burden or Manhattan plot.", "A zero is a no-call in the selected cBioPortal profile, not proof that the alteration is absent from Neuroblastoma or from unassayed samples.", "TARGET data carry OCG use and publication terms; original study and data-use conditions apply.", "Coordinates are retained on the source hg19 build; no liftover or transcript remapping was performed in this snapshot."], "answer_block": ["6 public Neuroblastoma cohorts are connected from cBioPortal: AMC 2012, Cologne 2015, Broad 2013, TARGET, DKFZ 2017, MSK 2023.", "Each gene is reported by its largest alteration in MSK 2023, whichever kind that is: MYCN 46/176 (26.14%, high-level amplification), ALK 29/176 (16.48%, SNV / small indel), ATRX 15/176 (8.52%, SNV / small indel), TERT 7/176 (3.98%, SNV / small indel), TP53 2/176 (1.14%, SNV / small indel), PHOX2B 2/176 (1.14%, SNV / small indel). MSK-IMPACT is a targeted panel applied to a clinically selected series, so these run higher than the genome-wide cohorts.", "ALK ranges from 2.0% (DKFZ 2017) to 16.48% (MSK 2023) across the 6 evaluable cohorts; these values are not pooled.", "1p36 deletion is counted in 18 of 59 TARGET patients with a GISTIC profile (30.51%): more than half of 6 genes spanning 1p36 at GISTIC -1 or beyond. That is the hemizygous threshold, not the ±2 used by the gene-level copy-number rows below; read at ±2 this count would be 3. It is a gene-level proxy, not a segment call: no study in this snapshot exposes copy-number segments.", "17q gain is counted in 49 of 59 TARGET patients with a GISTIC profile (83.05%): more than half of 6 genes spanning 17q at GISTIC +1 or beyond. That is the hemizygous threshold, not the ±2 used by the gene-level copy-number rows below; read at ±2 this count would be 1. It is a gene-level proxy, not a segment call: no study in this snapshot exposes copy-number segments.", "Unknown, not assayed, not observed and zero are kept as separate states; every numeric value retains a source ID, retrieval date and counting unit."], "key_findings": [{"finding": "ALK is observed in all 6 evaluable cohorts, 2.0% to 16.48%; the MSK reference frequency is 16.48% on a targeted panel.", "numerator": 29, "denominator": 176, "frequency": 16.48, "cohorts": 5, "evidence_confidence": "moderate", "source": "nbl_msk_2023", "retrieved_at": "2026-09-09"}, {"finding": "TERT is reported only by MSK-IMPACT, which tiles the promoter; the whole-genome studies report coding variants and never called it, so their zeros are missing coverage rather than absence.", "numerator": 7, "denominator": 176, "frequency": 3.98, "cohorts": 1, "evidence_confidence": "moderate", "source": "nbl_msk_2023", "retrieved_at": "2026-09-09"}, {"finding": "ATRX is observed in 4 of the 6 evaluable cohorts and reaches 8.52% in the MSK reference profile.", "numerator": 15, "denominator": 176, "frequency": 8.52, "cohorts": 3, "evidence_confidence": "moderate", "source": "nbl_msk_2023", "retrieved_at": "2026-09-09"}, {"finding": "MYCN mutation calls are uncommon; separate CNA profiles show high-level amplification in 46/176 MSK patients and 11/59 TARGET patients.", "numerator": 1, "denominator": 176, "frequency": 0.57, "cohorts": 4, "evidence_confidence": "moderate", "source": "nbl_msk_2023", "retrieved_at": "2026-09-09"}, {"finding": "MYCN high-level amplification is observed in 46/176 MSK patients (26.14%) and 11/59 TARGET patients (18.64%) with CNA data.", "numerator": 46, "denominator": 176, "frequency": 26.14, "cohorts": 2, "evidence_confidence": "moderate", "source": "nbl_msk_2023_cna; nbl_target_2018_pub_gistic", "retrieved_at": "2026-09-09"}, {"finding": "Structural-variant profiles contain 79 records in Broad 2013 and 16 in MSK 2023; the Broad rows divide by the 19 patients with an SV profile, not by its 240 patients.", "numerator": null, "denominator": null, "frequency": null, "cohorts": 2, "evidence_confidence": "moderate", "source": "nbl_broad_2013_structural_variants; nbl_msk_2023_structural_variants", "retrieved_at": "2026-09-09"}], "research_gaps": [{"kind": "Assay coverage", "text": "Extend coverage to cohorts and genomic profiles not yet connected, with richer event annotations and event-specific tested denominators."}, {"kind": "Clinical evidence", "text": "Link approved drugs, resistance evidence and active Neuroblastoma trials through separately dated evidence sources."}, {"kind": "Cohort harmonization", "text": "Check cross-study patient overlap and harmonize primary/relapse, age and risk-group definitions before any pooled estimate."}, {"kind": "Variant normalization", "text": "Add transcript and HGVS.c mappings while retaining the original hg19 coordinate and raw cBioPortal row."}], "observations": [{"source_record_id": "nbl_amc_2012", "cohort_id": "nbl_amc_2012", "counting_unit": "patients", "assay_coverage": "cBioPortal mutation profile for the study sequenced sample list", "raw_record": {"study_id": "nbl_amc_2012", "sample_list_id": "nbl_amc_2012_sequenced", "patient_count": 87, "sample_count": 87, "retrieved_at": "2026-09-09", "profile_ids": ["nbl_amc_2012_mutations"]}, "normalized_record": {"counting_unit": "patients", "evaluable_patients": 87, "sequenced_samples": 87, "deduplication": "unique patientId within sample list"}, "derived_record": {"altered_patients_by_gene": {"ALK": 5, "MYCN": 1, "ATRX": 0, "TERT": 0, "TP53": 0, "PHOX2B": 0, "BARD1": 0}, "frequency_percent_by_gene": {"ALK": 5.75, "MYCN": 1.15, "ATRX": 0.0, "TERT": 0.0, "TP53": 0.0, "PHOX2B": 0.0, "BARD1": 0.0}, "genomic_event_labels": []}, "provenance": {"source_name": "cBioPortal · Neuroblastoma (AMC Amsterdam, Nature 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_amc_2012", "source_record_id": "nbl_amc_2012", "source_version": "cBioPortal import 2026-01-08 17:07:00", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}}, {"source_record_id": "nbl_ucologne_2015", "cohort_id": "nbl_ucologne_2015", "counting_unit": "patients", "assay_coverage": "cBioPortal mutation profile for the study sequenced sample list", "raw_record": {"study_id": "nbl_ucologne_2015", "sample_list_id": "nbl_ucologne_2015_sequenced", "patient_count": 56, "sample_count": 56, "retrieved_at": "2026-09-09", "profile_ids": ["nbl_ucologne_2015_mutations"]}, "normalized_record": {"counting_unit": "patients", "evaluable_patients": 56, "sequenced_samples": 56, "deduplication": "unique patientId within sample list"}, "derived_record": {"altered_patients_by_gene": {"ALK": 5, "MYCN": 0, "ATRX": 1, "TERT": 0, "TP53": 0, "PHOX2B": 0, "BARD1": 0}, "frequency_percent_by_gene": {"ALK": 8.93, "MYCN": 0.0, "ATRX": 1.79, "TERT": 0.0, "TP53": 0.0, "PHOX2B": 0.0, "BARD1": 0.0}, "genomic_event_labels": []}, "provenance": {"source_name": "cBioPortal · Neuroblastoma (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_ucologne_2015", "source_record_id": "nbl_ucologne_2015", "source_version": "cBioPortal import 2026-01-08 17:09:47", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}}, {"source_record_id": "nbl_broad_2013", "cohort_id": "nbl_broad_2013", "counting_unit": "patients", "assay_coverage": "cBioPortal mutation profile for the study sequenced sample list", "raw_record": {"study_id": "nbl_broad_2013", "sample_list_id": "nbl_broad_2013_sequenced", "patient_count": 240, "sample_count": 240, "retrieved_at": "2026-09-09", "profile_ids": ["nbl_broad_2013_mutations", "nbl_broad_2013_structural_variants"]}, "normalized_record": {"counting_unit": "patients", "evaluable_patients": 240, "sequenced_samples": 240, "deduplication": "unique patientId within sample list"}, "derived_record": {"altered_patients_by_gene": {"ALK": 22, "MYCN": 4, "ATRX": 6, "TERT": 0, "TP53": 1, "PHOX2B": 0, "BARD1": 0}, "frequency_percent_by_gene": {"ALK": 9.17, "MYCN": 1.67, "ATRX": 2.5, "TERT": 0.0, "TP53": 0.42, "PHOX2B": 0.0, "BARD1": 0.0}, "genomic_event_labels": ["79 SV records", "Fusion-annotated SV records", "MYCN–GULP1 fusion"]}, "provenance": {"source_name": "cBioPortal · Neuroblastoma (Broad, Nat Genet 2013)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_broad_2013", "source_record_id": "nbl_broad_2013", "source_version": "cBioPortal import 2026-01-08 17:10:23", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}}, {"source_record_id": "nbl_target_2018_pub", "cohort_id": "nbl_target_2018_pub", "counting_unit": "patients", "assay_coverage": "cBioPortal mutation profile for the study sequenced sample list", "raw_record": {"study_id": "nbl_target_2018_pub", "sample_list_id": "nbl_target_2018_pub_sequenced", "patient_count": 471, "sample_count": 533, "retrieved_at": "2026-09-09", "profile_ids": ["nbl_target_2018_pub_mutations", "nbl_target_2018_pub_gistic"]}, "normalized_record": {"counting_unit": "patients", "evaluable_patients": 471, "sequenced_samples": 533, "deduplication": "unique patientId within sample list"}, "derived_record": {"altered_patients_by_gene": {"ALK": 64, "MYCN": 6, "ATRX": 13, "TERT": 0, "TP53": 3, "PHOX2B": 2, "BARD1": 1}, "frequency_percent_by_gene": {"ALK": 13.59, "MYCN": 1.27, "ATRX": 2.76, "TERT": 0.0, "TP53": 0.64, "PHOX2B": 0.42, "BARD1": 0.21}, "genomic_event_labels": ["MYCN high-level amplification", "ALK high-level amplification", "ATRX homozygous deletion", "TERT high-level amplification", "BARD1 homozygous deletion"]}, "provenance": {"source_name": "cBioPortal · Pediatric Neuroblastoma (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_target_2018_pub", "source_record_id": "nbl_target_2018_pub", "source_version": "cBioPortal import 2026-01-08 17:15:13", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "TARGET public data; OCG TARGET using-data and publication guidelines apply", "is_demo": false}}, {"source_record_id": "pediatric_dkfz_2017", "cohort_id": "pediatric_dkfz_2017", "counting_unit": "patients", "assay_coverage": "cBioPortal mutation profile for the study sequenced sample list", "raw_record": {"study_id": "pediatric_dkfz_2017", "sample_list_id": "pediatric_dkfz_2017_sequenced", "patient_count": 50, "sample_count": 59, "retrieved_at": "2026-09-09", "profile_ids": ["pediatric_dkfz_2017_mutations"]}, "normalized_record": {"counting_unit": "patients", "evaluable_patients": 50, "sequenced_samples": 59, "deduplication": "unique patientId within sample list"}, "derived_record": {"altered_patients_by_gene": {"ALK": 1, "MYCN": 0, "ATRX": 0, "TERT": 0, "TP53": 1, "PHOX2B": 1, "BARD1": 0}, "frequency_percent_by_gene": {"ALK": 2.0, "MYCN": 0.0, "ATRX": 0.0, "TERT": 0.0, "TP53": 2.0, "PHOX2B": 2.0, "BARD1": 0.0}, "genomic_event_labels": []}, "provenance": {"source_name": "cBioPortal · Pediatric Pan-Cancer (DKFZ, Nature 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=pediatric_dkfz_2017", "source_record_id": "pediatric_dkfz_2017", "source_version": "cBioPortal import; Grobner et al. Nature 2018, PMID 29489754", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}}, {"source_record_id": "nbl_msk_2023", "cohort_id": "nbl_msk_2023", "counting_unit": "patients", "assay_coverage": "cBioPortal mutation profile for the study sequenced sample list", "raw_record": {"study_id": "nbl_msk_2023", "sample_list_id": "nbl_msk_2023_sequenced", "patient_count": 176, "sample_count": 223, "retrieved_at": "2026-09-09", "profile_ids": ["nbl_msk_2023_mutations", "nbl_msk_2023_cna", "nbl_msk_2023_structural_variants"]}, "normalized_record": {"counting_unit": "patients", "evaluable_patients": 176, "sequenced_samples": 223, "deduplication": "unique patientId within sample list"}, "derived_record": {"altered_patients_by_gene": {"ALK": 29, "MYCN": 1, "ATRX": 15, "TERT": 7, "TP53": 2, "PHOX2B": 2, "BARD1": 0}, "frequency_percent_by_gene": {"ALK": 16.48, "MYCN": 0.57, "ATRX": 8.52, "TERT": 3.98, "TP53": 1.14, "PHOX2B": 1.14, "BARD1": 0.0}, "genomic_event_labels": ["MYCN high-level amplification", "ALK high-level amplification", "ATRX homozygous deletion", "TERT high-level amplification", "TERT homozygous deletion", "TP53 high-level amplification", "TP53 homozygous deletion", "16 SV records", "Fusion-annotated SV records", "Intragenic ALK duplication", "ARID1A–SFN transcript fusion", "ATRX antisense fusion", "VAX2–TMEM127 protein fusion"]}, "provenance": {"source_name": "cBioPortal · Pediatric Neuroblastoma (MSK, Nat Genet 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=nbl_msk_2023", "source_record_id": "nbl_msk_2023", "source_version": "cBioPortal import 2026-02-10 01:35:41", "retrieved_at": "2026-09-09", "processing_version": "mutation-landscape-cbioportal-0.2", "normalization_method": "cBioPortal profile rows; unique patientId counts within the selected sample list; source genome build retained; chromosome 23 normalized to X for display", "genome_build": "hg19", "licence": "cBioPortal public study; original study terms apply", "is_demo": false}}], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "nbl_msk_2023", "region_events": [{"label": "1p36 deletion", "arm": "1p36", "direction": "deletion", "genes": ["TP73", "CHD5", "CAMTA1", "KIF1B", "RPL22", "CASZ1"], "count_at_high_level": 3, "observed": 18, "tested": 59, "frequency": 30.51, "cohort": "nbl_target_2018_pub", "source_profile": "nbl_target_2018_pub_gistic", "method": "A patient counts when more than half of the 6 genes spanning 1p36 carry a GISTIC value of -1 or beyond. Arm-level events are hemizygous, so this threshold is not the ±2 the gene-level copy-number rows on this page use; read at ±2 this count would be 3, not 18. It is a gene-level proxy, not a segment call: no study in this snapshot exposes copy-number segments.", "denominator_note": "59 patients have a GISTIC profile; this frequency is of those 59, not of the 471 patients this cohort's mutation frequencies divide by. That subset is small and is likely enriched for high-risk disease, where both events are more common.", "not_assayed_in": ["nbl_amc_2012", "nbl_ucologne_2015", "nbl_broad_2013", "pediatric_dkfz_2017", "nbl_msk_2023"], "retrieved_at": "2026-09-09"}, {"label": "17q gain", "arm": "17q", "direction": "gain", "genes": ["BIRC5", "PPM1D", "NME1", "TBX2", "RAD51C", "AXIN2"], "count_at_high_level": 1, "observed": 49, "tested": 59, "frequency": 83.05, "cohort": "nbl_target_2018_pub", "source_profile": "nbl_target_2018_pub_gistic", "method": "A patient counts when more than half of the 6 genes spanning 17q carry a GISTIC value of +1 or beyond. Arm-level events are hemizygous, so this threshold is not the ±2 the gene-level copy-number rows on this page use; read at ±2 this count would be 1, not 49. It is a gene-level proxy, not a segment call: no study in this snapshot exposes copy-number segments.", "denominator_note": "59 patients have a GISTIC profile; this frequency is of those 59, not of the 471 patients this cohort's mutation frequencies divide by. That subset is small and is likely enriched for high-risk disease, where both events are more common.", "not_assayed_in": ["nbl_amc_2012", "nbl_ucologne_2015", "nbl_broad_2013", "pediatric_dkfz_2017", "nbl_msk_2023"], "retrieved_at": "2026-09-09"}], "matrix": [{"label": "ALK", "kind": "SNV / small indel", "gene": "ALK", "cells": [{"cohort": "nbl_amc_2012", "status": "observed", "frequency": 5.75, "altered": 5, "tested": 87, "note": null}, {"cohort": "nbl_ucologne_2015", "status": "observed", "frequency": 8.93, "altered": 5, "tested": 56, "note": null}, {"cohort": "nbl_broad_2013", "status": "observed", "frequency": 9.17, "altered": 22, "tested": 240, "note": null}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 13.59, "altered": 64, "tested": 471, "note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have."}, {"cohort": "pediatric_dkfz_2017", "status": "observed", "frequency": 2.0, "altered": 1, "tested": 50, "note": null}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 16.48, "altered": 29, "tested": 176, "note": null}]}, {"label": "ALK", "kind": "high-level amplification", "gene": "ALK", "cells": [{"cohort": "nbl_amc_2012", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_ucologne_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_broad_2013", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 1.69, "altered": 1, "tested": 59, "note": "59 of the cohort's 471 patients have a copy-number profile; this frequency is of those 59, not of the cohort."}, {"cohort": "pediatric_dkfz_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 2.27, "altered": 4, "tested": 176, "note": null}]}, {"label": "MYCN", "kind": "SNV / small indel", "gene": "MYCN", "cells": [{"cohort": "nbl_amc_2012", "status": "observed", "frequency": 1.15, "altered": 1, "tested": 87, "note": null}, {"cohort": "nbl_ucologne_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 56, "note": null}, {"cohort": "nbl_broad_2013", "status": "observed", "frequency": 1.67, "altered": 4, "tested": 240, "note": null}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 1.27, "altered": 6, "tested": 471, "note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have."}, {"cohort": "pediatric_dkfz_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 50, "note": null}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 0.57, "altered": 1, "tested": 176, "note": null}]}, {"label": "MYCN", "kind": "high-level amplification", "gene": "MYCN", "cells": [{"cohort": "nbl_amc_2012", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_ucologne_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_broad_2013", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 18.64, "altered": 11, "tested": 59, "note": "59 of the cohort's 471 patients have a copy-number profile; this frequency is of those 59, not of the cohort."}, {"cohort": "pediatric_dkfz_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 26.14, "altered": 46, "tested": 176, "note": null}]}, {"label": "ATRX", "kind": "SNV / small indel", "gene": "ATRX", "cells": [{"cohort": "nbl_amc_2012", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 87, "note": null}, {"cohort": "nbl_ucologne_2015", "status": "observed", "frequency": 1.79, "altered": 1, "tested": 56, "note": null}, {"cohort": "nbl_broad_2013", "status": "observed", "frequency": 2.5, "altered": 6, "tested": 240, "note": null}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 2.76, "altered": 13, "tested": 471, "note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have."}, {"cohort": "pediatric_dkfz_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 50, "note": null}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 8.52, "altered": 15, "tested": 176, "note": null}]}, {"label": "ATRX", "kind": "homozygous deletion", "gene": "ATRX", "cells": [{"cohort": "nbl_amc_2012", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_ucologne_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_broad_2013", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 1.69, "altered": 1, "tested": 59, "note": "59 of the cohort's 471 patients have a copy-number profile; this frequency is of those 59, not of the cohort."}, {"cohort": "pediatric_dkfz_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 3.41, "altered": 6, "tested": 176, "note": null}]}, {"label": "TERT", "kind": "SNV / small indel", "gene": "TERT", "cells": [{"cohort": "nbl_amc_2012", "status": "not_assayed", "frequency": null, "altered": null, "tested": 87, "note": "Coding variants were assayed; the TERT promoter was not reported in this study's mutation profile. The recurrent neuroblastoma alteration is in the promoter, so a zero here is missing coverage rather than absence."}, {"cohort": "nbl_ucologne_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": 56, "note": "Coding variants were assayed; the TERT promoter was not reported in this study's mutation profile. The recurrent neuroblastoma alteration is in the promoter, so a zero here is missing coverage rather than absence."}, {"cohort": "nbl_broad_2013", "status": "not_assayed", "frequency": null, "altered": null, "tested": 240, "note": "Coding variants were assayed; the TERT promoter was not reported in this study's mutation profile. The recurrent neuroblastoma alteration is in the promoter, so a zero here is missing coverage rather than absence."}, {"cohort": "nbl_target_2018_pub", "status": "not_assayed", "frequency": null, "altered": null, "tested": 471, "note": "Coding variants were assayed; the TERT promoter was not reported in this study's mutation profile. The recurrent neuroblastoma alteration is in the promoter, so a zero here is missing coverage rather than absence."}, {"cohort": "pediatric_dkfz_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": 50, "note": "Coding variants were assayed; the TERT promoter was not reported in this study's mutation profile. The recurrent neuroblastoma alteration is in the promoter, so a zero here is missing coverage rather than absence."}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 3.98, "altered": 7, "tested": 176, "note": null}]}, {"label": "TERT", "kind": "high-level amplification", "gene": "TERT", "cells": [{"cohort": "nbl_amc_2012", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_ucologne_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_broad_2013", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 3.39, "altered": 2, "tested": 59, "note": "59 of the cohort's 471 patients have a copy-number profile; this frequency is of those 59, not of the cohort."}, {"cohort": "pediatric_dkfz_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 1.7, "altered": 3, "tested": 176, "note": null}]}, {"label": "TERT", "kind": "homozygous deletion", "gene": "TERT", "cells": [{"cohort": "nbl_amc_2012", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_ucologne_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_broad_2013", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_target_2018_pub", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "pediatric_dkfz_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 0.57, "altered": 1, "tested": 176, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "nbl_amc_2012", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 87, "note": null}, {"cohort": "nbl_ucologne_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 56, "note": null}, {"cohort": "nbl_broad_2013", "status": "observed", "frequency": 0.42, "altered": 1, "tested": 240, "note": null}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 0.64, "altered": 3, "tested": 471, "note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have."}, {"cohort": "pediatric_dkfz_2017", "status": "observed", "frequency": 2.0, "altered": 1, "tested": 50, "note": null}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 1.14, "altered": 2, "tested": 176, "note": null}]}, {"label": "TP53", "kind": "high-level amplification", "gene": "TP53", "cells": [{"cohort": "nbl_amc_2012", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_ucologne_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_broad_2013", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_target_2018_pub", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "pediatric_dkfz_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 0.57, "altered": 1, "tested": 176, "note": null}]}, {"label": "TP53", "kind": "homozygous deletion", "gene": "TP53", "cells": [{"cohort": "nbl_amc_2012", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_ucologne_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_broad_2013", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_target_2018_pub", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "pediatric_dkfz_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 0.57, "altered": 1, "tested": 176, "note": null}]}, {"label": "PHOX2B", "kind": "SNV / small indel", "gene": "PHOX2B", "cells": [{"cohort": "nbl_amc_2012", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 87, "note": null}, {"cohort": "nbl_ucologne_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 56, "note": null}, {"cohort": "nbl_broad_2013", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 240, "note": null}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 0.42, "altered": 2, "tested": 471, "note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have."}, {"cohort": "pediatric_dkfz_2017", "status": "observed", "frequency": 2.0, "altered": 1, "tested": 50, "note": null}, {"cohort": "nbl_msk_2023", "status": "observed", "frequency": 1.14, "altered": 2, "tested": 176, "note": null}]}, {"label": "BARD1", "kind": "SNV / small indel", "gene": "BARD1", "cells": [{"cohort": "nbl_amc_2012", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 87, "note": null}, {"cohort": "nbl_ucologne_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 56, "note": null}, {"cohort": "nbl_broad_2013", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 240, "note": null}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 0.21, "altered": 1, "tested": 471, "note": "Mutation calls are read from the 2025 GDC reprocessing of these same patients, where 414 of 471 sequenced samples carry a call. The 2018 release reached 147 of 1,089 and was not evaluable. Copy-number still comes from the 2018 GISTIC profile, which the GDC study does not have."}, {"cohort": "pediatric_dkfz_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 50, "note": null}, {"cohort": "nbl_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 176, "note": null}]}, {"label": "BARD1", "kind": "homozygous deletion", "gene": "BARD1", "cells": [{"cohort": "nbl_amc_2012", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_ucologne_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_broad_2013", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 1.69, "altered": 1, "tested": 59, "note": "59 of the cohort's 471 patients have a copy-number profile; this frequency is of those 59, not of the cohort."}, {"cohort": "pediatric_dkfz_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "nbl_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "1p36 deletion", "kind": "chromosome arm", "gene": null, "cells": [{"cohort": "nbl_amc_2012", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Region genes are not on this cohort's panel or it has no copy-number profile."}, {"cohort": "nbl_ucologne_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Region genes are not on this cohort's panel or it has no copy-number profile."}, {"cohort": "nbl_broad_2013", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Region genes are not on this cohort's panel or it has no copy-number profile."}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 30.51, "altered": 18, "tested": 59, "note": "59 patients have a GISTIC profile; this frequency is of those 59, not of the 471 patients this cohort's mutation frequencies divide by. That subset is small and is likely enriched for high-risk disease, where both events are more common."}, {"cohort": "pediatric_dkfz_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Region genes are not on this cohort's panel or it has no copy-number profile."}, {"cohort": "nbl_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Region genes are not on this cohort's panel or it has no copy-number profile."}]}, {"label": "17q gain", "kind": "chromosome arm", "gene": null, "cells": [{"cohort": "nbl_amc_2012", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Region genes are not on this cohort's panel or it has no copy-number profile."}, {"cohort": "nbl_ucologne_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Region genes are not on this cohort's panel or it has no copy-number profile."}, {"cohort": "nbl_broad_2013", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Region genes are not on this cohort's panel or it has no copy-number profile."}, {"cohort": "nbl_target_2018_pub", "status": "observed", "frequency": 83.05, "altered": 49, "tested": 59, "note": "59 patients have a GISTIC profile; this frequency is of those 59, not of the 471 patients this cohort's mutation frequencies divide by. That subset is small and is likely enriched for high-risk disease, where both events are more common."}, {"cohort": "pediatric_dkfz_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Region genes are not on this cohort's panel or it has no copy-number profile."}, {"cohort": "nbl_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Region genes are not on this cohort's panel or it has no copy-number profile."}]}]}