{"disease": {"name": "Medulloblastoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "mbl"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 2, "cohort_count_status": "observed", "cohort_count_unit": "cohorts", "evaluable_patients": null, "evaluable_patients_status": "unknown", "evaluable_patients_unit": "patients", "alteration_types": ["SNV", "small indel", "amplification", "deep deletion"], "genes": [{"gene": "SMO", "alteration_types": ["SNV / small indel"], "altered": 13, "tested": 491, "frequency": 2.65, "cohort_count": 2, "frequency_range": {"min": 0.8, "max": 2.65}, "major_variants": ["L412F (n=8)", "W535L (n=3)", "S278I (n=1)", "V411A (n=1)", "G416D (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Medulloblastoma (DKFZ, Nature 2017), 0/491 patients (0.0%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mbl_dkfz_2017", "cohort_name": "Medulloblastoma (DKFZ, Nature 2017)", "altered": 0, "tested": 491, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "491/491", "coverage_note": null, "source_id": "mbl_dkfz_2017", "is_reference": true}, {"cohort": "mbl_icgc", "cohort_name": "Medulloblastoma (ICGC, Nature 2012)", "altered": 2, "tested": 125, "frequency": 1.6, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "125/125", "coverage_note": null, "source_id": "mbl_icgc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 5.33, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 491, "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"}, {"gene": "TP53", "alteration_types": ["SNV / small indel"], "altered": 17, "tested": 491, "frequency": 3.46, "cohort_count": 2, "frequency_range": {"min": 3.46, "max": 4.0}, "major_variants": ["R248Q (n=2)", "R282W (n=2)", "R273C (n=2)", "F54Sfs*69 (n=1)", "L265Wfs*80 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Medulloblastoma (DKFZ, Nature 2017), 17/491 patients (3.46%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mbl_dkfz_2017", "cohort_name": "Medulloblastoma (DKFZ, Nature 2017)", "altered": 17, "tested": 491, "frequency": 3.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "491/491", "coverage_note": null, "source_id": "mbl_dkfz_2017", "is_reference": true}, {"cohort": "mbl_icgc", "cohort_name": "Medulloblastoma (ICGC, Nature 2012)", "altered": 5, "tested": 125, "frequency": 4.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "125/125", "coverage_note": null, "source_id": "mbl_icgc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.53, "width": 1.8, "reference": 11.53, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 491, "frequency": 3.46, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2D", "alteration_types": ["SNV / small indel"], "altered": 34, "tested": 491, "frequency": 6.92, "cohort_count": 2, "frequency_range": {"min": 4.8, "max": 6.92}, "major_variants": ["Y2450* (n=1)", "R5048C (n=1)", "R3321* (n=1)", "G1289Pfs*34 (n=1)", "P3375S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Medulloblastoma (DKFZ, Nature 2017), 6/491 patients (1.22%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mbl_dkfz_2017", "cohort_name": "Medulloblastoma (DKFZ, Nature 2017)", "altered": 6, "tested": 491, "frequency": 1.22, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "491/491", "coverage_note": null, "source_id": "mbl_dkfz_2017", "is_reference": true}, {"cohort": "mbl_icgc", "cohort_name": "Medulloblastoma (ICGC, Nature 2012)", "altered": 1, "tested": 125, "frequency": 0.8, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "125/125", "coverage_note": null, "source_id": "mbl_icgc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.67, "width": 1.4, "reference": 4.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 491, "frequency": 1.22, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "IDH1", "alteration_types": ["SNV / small indel"], "altered": 6, "tested": 491, "frequency": 1.22, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.22}, "major_variants": ["R132C (n=6)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Medulloblastoma (DKFZ, Nature 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=mbl_dkfz_2017", "source_record_id": "mbl_dkfz_2017", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Medulloblastoma (ICGC, Nature 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=mbl_icgc", "source_record_id": "mbl_icgc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Medulloblastoma (DKFZ, Nature 2017), 6/491 patients (1.22%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "mbl_dkfz_2017", "cohort_name": "Medulloblastoma (DKFZ, Nature 2017)", "altered": 6, "tested": 491, "frequency": 1.22, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "491/491", "coverage_note": null, "source_id": "mbl_dkfz_2017", "is_reference": true}, {"cohort": "mbl_icgc", "cohort_name": "Medulloblastoma (ICGC, Nature 2012)", "altered": 0, "tested": 125, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "125/125", "coverage_note": null, "source_id": "mbl_icgc", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 4.07, "reference": 4.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 491, "frequency": 1.22, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}], "variants": [], "genomic_events": [], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 0, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 1, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Medulloblastoma (DKFZ, Nature 2017)", "source": "cBioPortal", "accession": "mbl_dkfz_2017", "patients": {"value": 491, "status": "observed", "unit": "patients"}, "samples": {"value": 491, "status": "observed", "unit": "samples"}, "disease_subtype": "Medulloblastoma (DKFZ, Nature 2017)", "assay_type": "exome or genome", "sequencing_method": "WES (491)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "mbl_dkfz_2017", "is_demo": false, "assay_coverage": {"patients_with_calls": 491, "patients_in_roster": 491, "frequencies_computed": true, "samples_sequenced": 491, "samples_in_study": 491, "hypermutated_patients": 0, "median_mutations_per_sample": 3, "reason": null}}, {"name": "Medulloblastoma (ICGC, Nature 2012)", "source": "cBioPortal", "accession": "mbl_icgc", "patients": {"value": 125, "status": "observed", "unit": "patients"}, "samples": {"value": 125, "status": "observed", "unit": "samples"}, "disease_subtype": "Medulloblastoma (ICGC, Nature 2012)", "assay_type": "exome or genome", "sequencing_method": "WES (125)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "mbl_icgc", "is_demo": false, "assay_coverage": {"patients_with_calls": 125, "patients_in_roster": 125, "frequencies_computed": true, "samples_sequenced": 125, "samples_in_study": 125, "hypermutated_patients": 0, "median_mutations_per_sample": 4, "reason": null}}], "sources": [{"source_name": "cBioPortal · Medulloblastoma (DKFZ, Nature 2017)", "source_url": "https://www.cbioportal.org/study/summary?id=mbl_dkfz_2017", "source_record_id": "mbl_dkfz_2017", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Medulloblastoma (ICGC, Nature 2012)", "source_url": "https://www.cbioportal.org/study/summary?id=mbl_icgc", "source_record_id": "mbl_icgc", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.", "Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.", "For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.", "Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.", "Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.", "Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.", "The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide."], "answer_block": ["In Medulloblastoma (DKFZ, Nature 2017) (491 sequenced patients, exome or genome), the most frequently altered of the 45 genes shown are PTCH1 10.39%, DDX3X 8.76%, KMT2D 6.92%, CTNNB1 6.52%, KMT2C 5.91%. Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 5 are altered in under 2% of this cohort (MYC, MYCN, OTX2, GFI1, PRDM6): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "2 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "PTCH1 is mutated in 51 of 491 patients in Medulloblastoma (DKFZ, Nature 2017).", "numerator": 51, "denominator": 491, "frequency": 10.39, "cohorts": 2, "evidence_confidence": "moderate", "source": "mbl_dkfz_2017", "retrieved_at": "2026-09-18"}, {"finding": "DDX3X is mutated in 43 of 491 patients in Medulloblastoma (DKFZ, Nature 2017).", "numerator": 43, "denominator": 491, "frequency": 8.76, "cohorts": 2, "evidence_confidence": "moderate", "source": "mbl_dkfz_2017", "retrieved_at": "2026-09-18"}, {"finding": "KMT2D is mutated in 34 of 491 patients in Medulloblastoma (DKFZ, Nature 2017).", "numerator": 34, "denominator": 491, "frequency": 6.92, "cohorts": 2, "evidence_confidence": "moderate", "source": "mbl_dkfz_2017", "retrieved_at": "2026-09-18"}], "research_gaps": [{"kind": "Structural variants", "text": "Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases."}, {"kind": "Context", "text": "Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four."}, {"kind": "Interpretation", "text": "Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts."}], "observations": [], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "mbl_dkfz_2017", "region_events": [], "matrix": [{"label": "SMO", "kind": "SNV / small indel", "gene": "SMO", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 2.65, "altered": 13, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 0.8, "altered": 1, "tested": 125, "note": null}]}, {"label": "PTCH1", "kind": "SNV / small indel", "gene": "PTCH1", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 10.39, "altered": 51, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 6.4, "altered": 8, "tested": 125, "note": null}]}, {"label": "CTNNB1", "kind": "SNV / small indel", "gene": "CTNNB1", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 6.52, "altered": 32, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 12.0, "altered": 15, "tested": 125, "note": null}]}, {"label": "MYC", "kind": "SNV / small indel", "gene": "MYC", "cells": [{"cohort": "mbl_dkfz_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 125, "note": null}]}, {"label": "MYCN", "kind": "SNV / small indel", "gene": "MYCN", "cells": [{"cohort": "mbl_dkfz_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 1.6, "altered": 2, "tested": 125, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 3.46, "altered": 17, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 4.0, "altered": 5, "tested": 125, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 6.92, "altered": 34, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 4.8, "altered": 6, "tested": 125, "note": null}]}, {"label": "OTX2", "kind": "SNV / small indel", "gene": "OTX2", "cells": [{"cohort": "mbl_dkfz_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 125, "note": null}]}, {"label": "DDX3X", "kind": "SNV / small indel", "gene": "DDX3X", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 8.76, "altered": 43, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 8.0, "altered": 10, "tested": 125, "note": null}]}, {"label": "KBTBD4", "kind": "SNV / small indel", "gene": "KBTBD4", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 3.87, "altered": 19, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 125, "note": null}]}, {"label": "GFI1", "kind": "SNV / small indel", "gene": "GFI1", "cells": [{"cohort": "mbl_dkfz_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 125, "note": null}]}, {"label": "PRDM6", "kind": "SNV / small indel", "gene": "PRDM6", "cells": [{"cohort": "mbl_dkfz_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 125, "note": null}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 5.91, "altered": 29, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 2.4, "altered": 3, "tested": 125, "note": null}]}, {"label": "SMARCA4", "kind": "SNV / small indel", "gene": "SMARCA4", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 5.09, "altered": 25, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 4.8, "altered": 6, "tested": 125, "note": null}]}, {"label": "KDM6A", "kind": "SNV / small indel", "gene": "KDM6A", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 3.46, "altered": 17, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 4.0, "altered": 5, "tested": 125, "note": null}]}, {"label": "CREBBP", "kind": "SNV / small indel", "gene": "CREBBP", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 3.05, "altered": 15, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 0.8, "altered": 1, "tested": 125, "note": null}]}, {"label": "ZMYM3", "kind": "SNV / small indel", "gene": "ZMYM3", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 2.85, "altered": 14, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 125, "note": null}]}, {"label": "ZIC1", "kind": "SNV / small indel", "gene": "ZIC1", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 2.44, "altered": 12, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "observed", "frequency": 0.8, "altered": 1, "tested": 125, "note": null}]}, {"label": "TCF4", "kind": "SNV / small indel", "gene": "TCF4", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 2.44, "altered": 12, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 125, "note": null}]}, {"label": "NME5", "kind": "SNV / small indel", "gene": "NME5", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 2.24, "altered": 11, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 125, "note": null}]}, {"label": "NIN", "kind": "SNV / small indel", "gene": "NIN", "cells": [{"cohort": "mbl_dkfz_2017", "status": "observed", "frequency": 2.24, "altered": 11, "tested": 491, "note": null}, {"cohort": "mbl_icgc", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 125, "note": null}]}, {"label": "CDK1", "kind": "SNV / small indel", "gene": "CDK1", 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