{"disease": {"name": "Chronic lymphocytic leukemia", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "cllsll"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 3, "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": "BTK", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 1074, "frequency": 0.19, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.19}, "major_variants": ["C165F (n=1)", "C481S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 2/1074 patients (0.19%).", "Without the 6 hypermutated patients: 2/1068 (0.19%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 2, "tested": 1074, "frequency": 0.19, "frequency_excl_hypermutated": 0.19, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 0, "tested": 506, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 0, "tested": 537, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 1074, "frequency": 0.19, "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": "BCL2", "alteration_types": ["SNV / small indel"], "altered": 5, "tested": 1074, "frequency": 0.47, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 0.59}, "major_variants": ["R127Q (n=1)", "F124L (n=1)", "A45T (n=1)", "R129H (n=1)", "S117R (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 5/1074 patients (0.47%).", "Without the 6 hypermutated patients: 5/1068 (0.47%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 5, "tested": 1074, "frequency": 0.47, "frequency_excl_hypermutated": 0.47, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 3, "tested": 506, "frequency": 0.59, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 0, "tested": 537, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.97, "reference": 1.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 1074, "frequency": 0.47, "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": "PIK3CD", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 1074, "frequency": 0.37, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 0.37}, "major_variants": ["A984T (n=1)", "P8H (n=1)", "P588H (n=1)", "A963T (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 4/1074 patients (0.37%).", "Without the 6 hypermutated patients: 3/1068 (0.28%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 4, "tested": 1074, "frequency": 0.37, "frequency_excl_hypermutated": 0.28, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 1, "tested": 506, "frequency": 0.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 0, "tested": 537, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.23, "reference": 1.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 1074, "frequency": 0.37, "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 / small indel"], "altered": 88, "tested": 1074, "frequency": 8.19, "cohort_count": 3, "frequency_range": {"min": 2.96, "max": 8.19}, "major_variants": ["R175H (n=6)", "R248W (n=5)", "R248Q (n=4)", "R273H (n=3)", "Y220C (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 88/1074 patients (8.19%).", "Without the 6 hypermutated patients: 87/1068 (8.15%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 88, "tested": 1074, "frequency": 8.19, "frequency_excl_hypermutated": 8.15, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 15, "tested": 506, "frequency": 2.96, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 38, "tested": 537, "frequency": 7.08, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.87, "width": 17.43, "reference": 27.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 88, "tested": 1074, "frequency": 8.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ATM", "alteration_types": ["SNV / small indel"], "altered": 111, "tested": 1074, "frequency": 10.34, "cohort_count": 3, "frequency_range": {"min": 6.13, "max": 15.27}, "major_variants": ["I2888T (n=3)", "K468Efs*18 (n=2)", "G2891D (n=2)", "L2890V (n=2)", "N3003D (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 111/1074 patients (10.34%).", "Without the 6 hypermutated patients: 111/1068 (10.39%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 111, "tested": 1074, "frequency": 10.34, "frequency_excl_hypermutated": 10.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 31, "tested": 506, "frequency": 6.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 82, "tested": 537, "frequency": 15.27, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.43, "width": 30.47, "reference": 34.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 111, "tested": 1074, "frequency": 10.34, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SF3B1", "alteration_types": ["SNV / small indel"], "altered": 174, "tested": 1074, "frequency": 16.2, "cohort_count": 3, "frequency_range": {"min": 8.1, "max": 21.04}, "major_variants": ["K700E (n=74)", "G742D (n=36)", "E622D (n=6)", "K666E (n=6)", "G740E (n=4)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in 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 · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 174/1074 patients (16.2%).", "Without the 6 hypermutated patients: 173/1068 (16.2%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 174, "tested": 1074, "frequency": 16.2, "frequency_excl_hypermutated": 16.2, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 41, "tested": 506, "frequency": 8.1, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 113, "tested": 537, "frequency": 21.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 27.0, "width": 43.13, "reference": 54.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 174, "tested": 1074, "frequency": 16.2, "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": "NOTCH1", "alteration_types": ["SNV / small indel"], "altered": 54, "tested": 1074, "frequency": 5.03, "cohort_count": 3, "frequency_range": {"min": 5.03, "max": 9.49}, "major_variants": ["P2514Rfs*4 (n=34)", "Q2409* (n=2)", "Q2440* (n=2)", "P401L (n=2)", "Q2184* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 54/1074 patients (5.03%).", "Without the 6 hypermutated patients: 52/1068 (4.87%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 54, "tested": 1074, "frequency": 5.03, "frequency_excl_hypermutated": 4.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 48, "tested": 506, "frequency": 9.49, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 38, "tested": 537, "frequency": 7.08, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.77, "width": 14.86, "reference": 16.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 54, "tested": 1074, "frequency": 5.03, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MS4A1", "alteration_types": [], "altered": 0, "tested": 1074, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 0/1074 patients (0.0%).", "Without the 6 hypermutated patients: 0/1068 (0.0%).", "Observed in 0 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 0, "tested": 1074, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 0, "tested": 506, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 0, "tested": 537, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 1074, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "CD19", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 1074, "frequency": 0.19, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 0.2}, "major_variants": ["R331G (n=1)", "K27Efs*7 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 2/1074 patients (0.19%).", "Without the 6 hypermutated patients: 2/1068 (0.19%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 2, "tested": 1074, "frequency": 0.19, "frequency_excl_hypermutated": 0.19, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 1, "tested": 506, "frequency": 0.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 0, "tested": 537, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 1074, "frequency": 0.19, "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": "ROR1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 1074, "frequency": 0.19, "cohort_count": 3, "frequency_range": {"min": 0.19, "max": 0.2}, "major_variants": ["T69S (n=1)", "R108W (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 2/1074 patients (0.19%).", "Without the 6 hypermutated patients: 2/1068 (0.19%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 2, "tested": 1074, "frequency": 0.19, "frequency_excl_hypermutated": 0.19, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 1, "tested": 506, "frequency": 0.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 1, "tested": 537, "frequency": 0.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.63, "width": 1.0, "reference": 0.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 1074, "frequency": 0.19, "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": "CD52", "alteration_types": [], "altered": 0, "tested": 1074, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 0/1074 patients (0.0%).", "Without the 6 hypermutated patients: 0/1068 (0.0%).", "Observed in 0 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 0, "tested": 1074, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 0, "tested": 506, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 0, "tested": 537, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 1074, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "MYD88", "alteration_types": ["SNV / small indel"], "altered": 33, "tested": 1074, "frequency": 3.07, "cohort_count": 3, "frequency_range": {"min": 2.98, "max": 3.56}, "major_variants": ["L265P (n=23)", "V217F (n=3)", "M232T (n=2)", "S219C (n=2)", "S243N (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 33/1074 patients (3.07%).", "Without the 6 hypermutated patients: 33/1068 (3.09%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 33, "tested": 1074, "frequency": 3.07, "frequency_excl_hypermutated": 3.09, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 18, "tested": 506, "frequency": 3.56, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 16, "tested": 537, "frequency": 2.98, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.93, "width": 1.94, "reference": 10.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 33, "tested": 1074, "frequency": 3.07, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "POT1", "alteration_types": ["SNV / small indel"], "altered": 60, "tested": 1074, "frequency": 5.59, "cohort_count": 3, "frequency_range": {"min": 3.36, "max": 6.52}, "major_variants": ["Q94R (n=6)", "G274R (n=3)", "S38R (n=3)", "K33N (n=2)", "R137C (n=2)"], "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 · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 60/1074 patients (5.59%).", "Without the 6 hypermutated patients: 60/1068 (5.62%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 60, "tested": 1074, "frequency": 5.59, "frequency_excl_hypermutated": 5.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 17, "tested": 506, "frequency": 3.36, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 35, "tested": 537, "frequency": 6.52, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.2, "width": 10.53, "reference": 18.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 60, "tested": 1074, "frequency": 5.59, "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": "CHD2", "alteration_types": ["SNV / small indel"], "altered": 55, "tested": 1074, "frequency": 5.12, "cohort_count": 3, "frequency_range": {"min": 4.74, "max": 5.12}, "major_variants": ["X1471_splice (n=2)", "H690Ifs*4 (n=1)", "R836P (n=1)", "K702R (n=1)", "S1099Lfs*58 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 55/1074 patients (5.12%).", "Without the 6 hypermutated patients: 54/1068 (5.06%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 55, "tested": 1074, "frequency": 5.12, "frequency_excl_hypermutated": 5.06, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 24, "tested": 506, "frequency": 4.74, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 26, "tested": 537, "frequency": 4.84, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.8, "width": 1.27, "reference": 17.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 55, "tested": 1074, "frequency": 5.12, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "XPO1", "alteration_types": ["SNV / small indel"], "altered": 51, "tested": 1074, "frequency": 4.75, "cohort_count": 3, "frequency_range": {"min": 1.78, "max": 4.75}, "major_variants": ["E571K (n=30)", "D624G (n=5)", "E571G (n=5)", "E571V (n=4)", "E571Q (n=4)"], "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 · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 51/1074 patients (4.75%).", "Without the 6 hypermutated patients: 51/1068 (4.78%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 51, "tested": 1074, "frequency": 4.75, "frequency_excl_hypermutated": 4.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 9, "tested": 506, "frequency": 1.78, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 24, "tested": 537, "frequency": 4.47, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.93, "width": 9.9, "reference": 15.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 51, "tested": 1074, "frequency": 4.75, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MGA", "alteration_types": ["SNV / small indel"], "altered": 34, "tested": 1074, "frequency": 3.17, "cohort_count": 3, "frequency_range": {"min": 2.37, "max": 3.17}, "major_variants": ["X1028_splice (n=1)", "Y915* (n=1)", "E1410Rfs*31 (n=1)", "N416Kfs*3 (n=1)", "Q1988* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 34/1074 patients (3.17%).", "Without the 6 hypermutated patients: 33/1068 (3.09%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 34, "tested": 1074, "frequency": 3.17, "frequency_excl_hypermutated": 3.09, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 12, "tested": 506, "frequency": 2.37, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 17, "tested": 537, "frequency": 3.17, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.9, "width": 2.67, "reference": 10.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 34, "tested": 1074, "frequency": 3.17, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "BRAF", "alteration_types": ["SNV / small indel"], "altered": 34, "tested": 1074, "frequency": 3.17, "cohort_count": 3, "frequency_range": {"min": 1.98, "max": 3.72}, "major_variants": ["K601E (n=10)", "G469A (n=8)", "K601N (n=3)", "N581I (n=2)", "D594G (n=2)"], "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 · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 34/1074 patients (3.17%).", "Without the 6 hypermutated patients: 34/1068 (3.18%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 34, "tested": 1074, "frequency": 3.17, "frequency_excl_hypermutated": 3.18, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 10, "tested": 506, "frequency": 1.98, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 20, "tested": 537, "frequency": 3.72, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.6, "width": 5.8, "reference": 10.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 34, "tested": 1074, "frequency": 3.17, "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": "FAT1", "alteration_types": ["SNV / small indel"], "altered": 33, "tested": 1074, "frequency": 3.07, "cohort_count": 3, "frequency_range": {"min": 0.93, "max": 3.07}, "major_variants": ["T2261M (n=1)", "E821V (n=1)", "D4106E (n=1)", "V4392I (n=1)", "X3285_splice (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 33/1074 patients (3.07%).", "Without the 6 hypermutated patients: 32/1068 (3.0%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 33, "tested": 1074, "frequency": 3.07, "frequency_excl_hypermutated": 3.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 8, "tested": 506, "frequency": 1.58, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 5, "tested": 537, "frequency": 0.93, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.1, "width": 7.13, "reference": 10.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 33, "tested": 1074, "frequency": 3.07, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EGR2", "alteration_types": ["SNV / small indel"], "altered": 33, "tested": 1074, "frequency": 3.07, "cohort_count": 3, "frequency_range": {"min": 1.78, "max": 3.17}, "major_variants": ["H384N (n=13)", "E356K (n=11)", "D411Y (n=3)", "D411H (n=3)", "D348Y (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 33/1074 patients (3.07%).", "Without the 6 hypermutated patients: 33/1068 (3.09%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 33, "tested": 1074, "frequency": 3.07, "frequency_excl_hypermutated": 3.09, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 9, "tested": 506, "frequency": 1.78, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 17, "tested": 537, "frequency": 3.17, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.93, "width": 4.64, "reference": 10.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 33, "tested": 1074, "frequency": 3.07, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "BIRC3", "alteration_types": ["SNV / small indel"], "altered": 30, "tested": 1074, "frequency": 2.79, "cohort_count": 3, "frequency_range": {"min": 1.78, "max": 3.54}, "major_variants": ["Q547Nfs*21 (n=5)", "E429Gfs*7 (n=2)", "E429Gfs*9 (n=1)", "E430Gfs*19 (n=1)", "V544Sfs*15 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 30/1074 patients (2.79%).", "Without the 6 hypermutated patients: 30/1068 (2.81%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 30, "tested": 1074, "frequency": 2.79, "frequency_excl_hypermutated": 2.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 9, "tested": 506, "frequency": 1.78, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 19, "tested": 537, "frequency": 3.54, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.93, "width": 5.87, "reference": 9.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 30, "tested": 1074, "frequency": 2.79, "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": "WDFY3", "alteration_types": ["SNV / small indel"], "altered": 27, "tested": 1074, "frequency": 2.51, "cohort_count": 3, "frequency_range": {"min": 1.12, "max": 2.51}, "major_variants": ["X1355_splice (n=2)", "L31P (n=1)", "G1250C (n=1)", "S2446F (n=1)", "N2501I (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 27/1074 patients (2.51%).", "Without the 6 hypermutated patients: 27/1068 (2.53%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 27, "tested": 1074, "frequency": 2.51, "frequency_excl_hypermutated": 2.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 6, "tested": 506, "frequency": 1.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 6, "tested": 537, "frequency": 1.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.73, "width": 4.64, "reference": 8.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 27, "tested": 1074, "frequency": 2.51, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KRAS", "alteration_types": ["SNV / small indel"], "altered": 27, "tested": 1074, "frequency": 2.51, "cohort_count": 3, "frequency_range": {"min": 0.59, "max": 2.61}, "major_variants": ["G13D (n=6)", "K117N (n=6)", "A146V (n=4)", "Q61H (n=3)", "G12V (n=2)"], "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 · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 27/1074 patients (2.51%).", "Without the 6 hypermutated patients: 26/1068 (2.43%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 27, "tested": 1074, "frequency": 2.51, "frequency_excl_hypermutated": 2.43, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 3, "tested": 506, "frequency": 0.59, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 14, "tested": 537, "frequency": 2.61, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.97, "width": 6.73, "reference": 8.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 27, "tested": 1074, "frequency": 2.51, "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": "FBXW7", "alteration_types": ["SNV / small indel"], "altered": 27, "tested": 1074, "frequency": 2.51, "cohort_count": 3, "frequency_range": {"min": 0.99, "max": 2.51}, "major_variants": ["R465H (n=4)", "R465C (n=4)", "R479Q (n=3)", "R505C (n=2)", "Y545C (n=2)"], "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 · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 27/1074 patients (2.51%).", "Without the 6 hypermutated patients: 27/1068 (2.53%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 27, "tested": 1074, "frequency": 2.51, "frequency_excl_hypermutated": 2.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 5, "tested": 506, "frequency": 0.99, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 12, "tested": 537, "frequency": 2.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.3, "width": 5.07, "reference": 8.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 27, "tested": 1074, "frequency": 2.51, "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": "DDX3X", "alteration_types": ["SNV / small indel"], "altered": 27, "tested": 1074, "frequency": 2.51, "cohort_count": 3, "frequency_range": {"min": 2.37, "max": 2.51}, "major_variants": ["K418Sfs*15 (n=2)", "S24* (n=1)", "T411Pfs*9 (n=1)", "X342_splice (n=1)", "P324Q (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 27/1074 patients (2.51%).", "Without the 6 hypermutated patients: 27/1068 (2.53%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 27, "tested": 1074, "frequency": 2.51, "frequency_excl_hypermutated": 2.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 12, "tested": 506, "frequency": 2.37, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 13, "tested": 537, "frequency": 2.42, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.9, "width": 1.0, "reference": 8.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 27, "tested": 1074, "frequency": 2.51, "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": "SPEN", "alteration_types": ["SNV / small indel"], "altered": 26, "tested": 1074, "frequency": 2.42, "cohort_count": 3, "frequency_range": {"min": 1.19, "max": 2.42}, "major_variants": ["N1819Tfs*15 (n=1)", "E1048* (n=1)", "R607* (n=1)", "K898* (n=1)", "V1118Yfs*2 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 26/1074 patients (2.42%).", "Without the 6 hypermutated patients: 25/1068 (2.34%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 26, "tested": 1074, "frequency": 2.42, "frequency_excl_hypermutated": 2.34, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 6, "tested": 506, "frequency": 1.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 8, "tested": 537, "frequency": 1.49, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.97, "width": 4.1, "reference": 8.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 26, "tested": 1074, "frequency": 2.42, "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": "PCDH15", "alteration_types": ["SNV / small indel"], "altered": 26, "tested": 1074, "frequency": 2.42, "cohort_count": 3, "frequency_range": {"min": 0.99, "max": 2.42}, "major_variants": ["L1300Q (n=1)", "R1405C (n=1)", "Q1663E (n=1)", "Y515N (n=1)", "K740N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 26/1074 patients (2.42%).", "Without the 6 hypermutated patients: 25/1068 (2.34%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 26, "tested": 1074, "frequency": 2.42, "frequency_excl_hypermutated": 2.34, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 5, "tested": 506, "frequency": 0.99, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 13, "tested": 537, "frequency": 2.42, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.3, "width": 4.77, "reference": 8.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 26, "tested": 1074, "frequency": 2.42, "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": "KLHL6", "alteration_types": ["SNV / small indel"], "altered": 25, "tested": 1074, "frequency": 2.33, "cohort_count": 3, "frequency_range": {"min": 0.93, "max": 2.77}, "major_variants": ["L65P (n=7)", "L58P (n=2)", "T64S (n=2)", "L90P (n=2)", "Q81* (n=2)"], "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 · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 25/1074 patients (2.33%).", "Without the 6 hypermutated patients: 25/1068 (2.34%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 25, "tested": 1074, "frequency": 2.33, "frequency_excl_hypermutated": 2.34, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 14, "tested": 506, "frequency": 2.77, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 5, "tested": 537, "frequency": 0.93, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.1, "width": 6.13, "reference": 7.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 25, "tested": 1074, "frequency": 2.33, "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": "IGLL5", "alteration_types": ["SNV / small indel"], "altered": 25, "tested": 1074, "frequency": 2.33, "cohort_count": 3, "frequency_range": {"min": 2.23, "max": 5.14}, "major_variants": ["G109R (n=19)", "G109S (n=4)", "V34Afs*72 (n=1)", "X109_splice (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 25/1074 patients (2.33%).", "Without the 6 hypermutated patients: 25/1068 (2.34%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 25, "tested": 1074, "frequency": 2.33, "frequency_excl_hypermutated": 2.34, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 26, "tested": 506, "frequency": 5.14, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 12, "tested": 537, "frequency": 2.23, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.43, "width": 9.7, "reference": 7.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 25, "tested": 1074, "frequency": 2.33, "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": 21, "tested": 1074, "frequency": 1.96, "cohort_count": 3, "frequency_range": {"min": 0.74, "max": 1.96}, "major_variants": ["P4631T (n=1)", "R5282* (n=1)", "Q3968H (n=1)", "E1266* (n=1)", "C3543Vfs*13 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 21/1074 patients (1.96%).", "Without the 6 hypermutated patients: 18/1068 (1.69%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 21, "tested": 1074, "frequency": 1.96, "frequency_excl_hypermutated": 1.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 5, "tested": 506, "frequency": 0.99, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 4, "tested": 537, "frequency": 0.74, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.47, "width": 4.06, "reference": 6.53, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 1074, "frequency": 1.96, "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": "NHS", "alteration_types": ["SNV / small indel"], "altered": 20, "tested": 1074, "frequency": 1.86, "cohort_count": 3, "frequency_range": {"min": 0.4, "max": 1.86}, "major_variants": ["A496D (n=1)", "D687N (n=1)", "E720V (n=1)", "Y763* (n=1)", "R565Q (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 20/1074 patients (1.86%).", "Without the 6 hypermutated patients: 19/1068 (1.78%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 20, "tested": 1074, "frequency": 1.86, "frequency_excl_hypermutated": 1.78, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 2, "tested": 506, "frequency": 0.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 9, "tested": 537, "frequency": 1.68, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.33, "width": 4.87, "reference": 6.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 1074, "frequency": 1.86, "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": "IKZF3", "alteration_types": ["SNV / small indel"], "altered": 20, "tested": 1074, "frequency": 1.86, "cohort_count": 3, "frequency_range": {"min": 0.79, "max": 2.05}, "major_variants": ["L162R (n=19)", "R225H (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 20/1074 patients (1.86%).", "Without the 6 hypermutated patients: 20/1068 (1.87%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 20, "tested": 1074, "frequency": 1.86, "frequency_excl_hypermutated": 1.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 4, "tested": 506, "frequency": 0.79, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 11, "tested": 537, "frequency": 2.05, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.63, "width": 4.2, "reference": 6.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 1074, "frequency": 1.86, "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": "COL6A3", "alteration_types": ["SNV / small indel"], "altered": 20, "tested": 1074, "frequency": 1.86, "cohort_count": 3, "frequency_range": {"min": 1.38, "max": 1.86}, "major_variants": ["H2564R (n=1)", "V854F (n=1)", "T2874M (n=1)", "A1370T (n=1)", "R1308W (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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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 · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 19/1074 patients (1.77%).", "Without the 6 hypermutated patients: 18/1068 (1.69%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 19, "tested": 1074, "frequency": 1.77, "frequency_excl_hypermutated": 1.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 2, "tested": 506, "frequency": 0.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 11, "tested": 537, "frequency": 2.05, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.33, "width": 5.5, "reference": 5.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 1074, "frequency": 1.77, "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": "VCAN", "alteration_types": ["SNV / small indel"], "altered": 18, "tested": 1074, "frequency": 1.68, "cohort_count": 3, "frequency_range": {"min": 0.56, "max": 1.68}, "major_variants": ["L752S (n=1)", "I2703M (n=1)", "W3173* (n=1)", "T3003M (n=1)", "P2739T (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 18/1074 patients (1.68%).", "Without the 6 hypermutated patients: 17/1068 (1.59%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 18, "tested": 1074, "frequency": 1.68, "frequency_excl_hypermutated": 1.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 7, "tested": 506, "frequency": 1.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 3, "tested": 537, "frequency": 0.56, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.87, "width": 3.73, "reference": 5.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 1074, "frequency": 1.68, "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": "RELN", "alteration_types": ["SNV / small indel"], "altered": 18, "tested": 1074, "frequency": 1.68, "cohort_count": 3, "frequency_range": {"min": 0.93, "max": 1.68}, "major_variants": ["M115R (n=1)", "R1010C (n=1)", "H2775L (n=1)", "G2862D (n=1)", "A2770V (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 18/1074 patients (1.68%).", "Without the 6 hypermutated patients: 17/1068 (1.59%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 18, "tested": 1074, "frequency": 1.68, "frequency_excl_hypermutated": 1.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 5, "tested": 506, "frequency": 0.99, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 5, "tested": 537, "frequency": 0.93, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.1, "width": 2.5, "reference": 5.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 1074, "frequency": 1.68, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PTPRD", "alteration_types": ["SNV / small indel"], "altered": 18, "tested": 1074, "frequency": 1.68, "cohort_count": 3, "frequency_range": {"min": 0.2, "max": 1.68}, "major_variants": ["I1700L (n=1)", "R705L (n=1)", "T1100M (n=1)", "S734T (n=1)", "X1363_splice (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 18/1074 patients (1.68%).", "Without the 6 hypermutated patients: 16/1068 (1.5%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 18, "tested": 1074, "frequency": 1.68, "frequency_excl_hypermutated": 1.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 1, "tested": 506, "frequency": 0.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 7, "tested": 537, "frequency": 1.3, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.67, "width": 4.93, "reference": 5.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 1074, "frequency": 1.68, "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": "PLXNA4", "alteration_types": ["SNV / small indel"], "altered": 18, "tested": 1074, "frequency": 1.68, "cohort_count": 3, "frequency_range": {"min": 0.2, "max": 1.68}, "major_variants": ["P1313L (n=1)", "E1646K (n=1)", "V1240I (n=1)", "R549H (n=1)", "P412S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 18/1074 patients (1.68%).", "Without the 6 hypermutated patients: 18/1068 (1.69%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 18, "tested": 1074, "frequency": 1.68, "frequency_excl_hypermutated": 1.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 1, "tested": 506, "frequency": 0.2, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 6, "tested": 537, "frequency": 1.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.67, "width": 4.93, "reference": 5.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 1074, "frequency": 1.68, "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": "NAV3", "alteration_types": ["SNV / small indel"], "altered": 18, "tested": 1074, "frequency": 1.68, "cohort_count": 3, "frequency_range": {"min": 0.4, "max": 1.68}, "major_variants": ["A631P (n=1)", "V484D (n=1)", "A14S (n=1)", "L1652P (n=1)", "V1599A (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 18/1074 patients (1.68%).", "Without the 6 hypermutated patients: 18/1068 (1.69%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 18, "tested": 1074, "frequency": 1.68, "frequency_excl_hypermutated": 1.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 7, "tested": 506, "frequency": 1.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 7, "tested": 537, "frequency": 1.3, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.33, "width": 1.27, "reference": 5.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 1074, "frequency": 1.68, "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": "ADGRL3", "alteration_types": ["SNV / small indel"], "altered": 18, "tested": 1074, "frequency": 1.68, "cohort_count": 3, "frequency_range": {"min": 1.68, "max": 1.98}, "major_variants": ["A1051S (n=1)", "R1173L (n=1)", "G1078D (n=1)", "F1120L (n=1)", "N93Tfs*47 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 18/1074 patients (1.68%).", "Without the 6 hypermutated patients: 18/1068 (1.69%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 18, "tested": 1074, "frequency": 1.68, "frequency_excl_hypermutated": 1.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 10, "tested": 506, "frequency": 1.98, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 10, "tested": 537, "frequency": 1.86, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.6, "width": 1.0, "reference": 5.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 18, "tested": 1074, "frequency": 1.68, "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": "PKHD1", "alteration_types": ["SNV / small indel"], "altered": 17, "tested": 1074, "frequency": 1.58, "cohort_count": 3, "frequency_range": {"min": 0.79, "max": 1.58}, "major_variants": ["A3423E (n=2)", "V2429I (n=1)", "R19H (n=1)", "T2775K (n=1)", "T1243M (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 17/1074 patients (1.58%).", "Without the 6 hypermutated patients: 17/1068 (1.59%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 17, "tested": 1074, "frequency": 1.58, "frequency_excl_hypermutated": 1.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 4, "tested": 506, "frequency": 0.79, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 6, "tested": 537, "frequency": 1.12, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.63, "width": 2.64, "reference": 5.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 1074, "frequency": 1.58, "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": "HECTD4", "alteration_types": ["SNV / small indel"], "altered": 17, "tested": 1074, "frequency": 1.58, "cohort_count": 3, "frequency_range": {"min": 0.4, "max": 1.58}, "major_variants": ["R2544S (n=1)", "F2410V (n=1)", "V2368G (n=1)", "V1532A (n=1)", "A3855V (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; 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the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 17/1074 patients (1.58%).", "Without the 6 hypermutated patients: 17/1068 (1.59%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 17, "tested": 1074, "frequency": 1.58, "frequency_excl_hypermutated": 1.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 2, "tested": 506, "frequency": 0.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 3, "tested": 537, "frequency": 0.56, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.33, "width": 3.94, "reference": 5.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 1074, "frequency": 1.58, "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": "DYNC2H1", "alteration_types": ["SNV / small indel"], "altered": 17, "tested": 1074, "frequency": 1.58, "cohort_count": 3, "frequency_range": {"min": 0.74, "max": 1.58}, "major_variants": ["R3081H (n=2)", "A3754D (n=1)", "D1646V (n=1)", "Y346C (n=1)", "D522N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 17/1074 patients (1.58%).", "Without the 6 hypermutated patients: 17/1068 (1.59%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 17, "tested": 1074, "frequency": 1.58, "frequency_excl_hypermutated": 1.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 7, "tested": 506, "frequency": 1.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 4, "tested": 537, "frequency": 0.74, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.47, "width": 2.8, "reference": 5.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 1074, "frequency": 1.58, "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": "BAZ2A", "alteration_types": ["SNV / small indel"], "altered": 17, "tested": 1074, "frequency": 1.58, "cohort_count": 3, "frequency_range": {"min": 0.59, "max": 1.86}, "major_variants": ["X700_splice (n=1)", "R1793W (n=1)", "Q1743* (n=1)", "D1311Afs*45 (n=1)", "F302Lfs*9 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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: Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022), 17/1074 patients (1.58%).", "Without the 6 hypermutated patients: 17/1068 (1.59%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "cll_broad_2022", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "altered": 17, "tested": 1074, "frequency": 1.58, "frequency_excl_hypermutated": 1.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1075/1154", "coverage_note": null, "source_id": "cll_broad_2022", "is_reference": true}, {"cohort": "cll_iuopa_2015", "cohort_name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "altered": 3, "tested": 506, "frequency": 0.59, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "506/506", "coverage_note": null, "source_id": "cll_iuopa_2015", "is_reference": false}, {"cohort": "cll_broad_2015", "cohort_name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "altered": 10, "tested": 537, "frequency": 1.86, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "537/537", "coverage_note": null, "source_id": "cll_broad_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.97, "width": 4.23, "reference": 5.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 1074, "frequency": 1.58, "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": 3, "total_cohorts": 3}, {"modality": "Copy number (discrete)", "available_cohorts": 0, "total_cohorts": 3}, {"modality": "Structural variant (present, not read)", "available_cohorts": 1, "total_cohorts": 3}], "chromosome_summary": [], "cohorts": [{"name": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source": "cBioPortal", "accession": "cll_broad_2022", "patients": {"value": 1074, "status": "observed", "unit": "patients"}, "samples": {"value": 1075, "status": "observed", "unit": "samples"}, "disease_subtype": "Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "assay_type": "exome or genome", "sequencing_method": "WES (1075)", "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": "cll_broad_2022", "is_demo": false, "assay_coverage": {"patients_with_calls": 1074, "patients_in_roster": 1074, "frequencies_computed": true, "samples_sequenced": 1075, "samples_in_study": 1154, "hypermutated_patients": 6, "median_mutations_per_sample": 24, "reason": null}}, {"name": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source": "cBioPortal", "accession": "cll_iuopa_2015", "patients": {"value": 506, "status": "observed", "unit": "patients"}, "samples": {"value": 506, "status": "observed", "unit": "samples"}, "disease_subtype": "Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "assay_type": "exome or genome", "sequencing_method": "WES (506)", "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": "cll_iuopa_2015", "is_demo": false, "assay_coverage": {"patients_with_calls": 506, "patients_in_roster": 506, "frequencies_computed": true, "samples_sequenced": 506, "samples_in_study": 506, "hypermutated_patients": 0, "median_mutations_per_sample": 13.0, "reason": null}}, {"name": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source": "cBioPortal", "accession": "cll_broad_2015", "patients": {"value": 537, "status": "observed", "unit": "patients"}, "samples": {"value": 537, "status": "observed", "unit": "samples"}, "disease_subtype": "Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "assay_type": "exome or genome", "sequencing_method": "WES (537)", "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": "cll_broad_2015", "is_demo": false, "assay_coverage": {"patients_with_calls": 537, "patients_in_roster": 537, "frequencies_computed": true, "samples_sequenced": 537, "samples_in_study": 537, "hypermutated_patients": 0, "median_mutations_per_sample": 16, "reason": null}}], "sources": [{"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2022", "source_record_id": "cll_broad_2022", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Chronic Lymphocytic Leukemia (IUOPA, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_iuopa_2015", "source_record_id": "cll_iuopa_2015", "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 · Chronic Lymphocytic Leukemia (Broad, Nature 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=cll_broad_2015", "source_record_id": "cll_broad_2015", "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 Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022) (1074 sequenced patients, exome or genome), the most frequently altered of the 47 genes shown are SF3B1 16.2%, ATM 10.34%, TP53 8.19%, POT1 5.59%, CHD2 5.12%. Each figure divides by the patients on whom that gene could be called.", "6 of 1074 patients are hypermutated (more than 240 non-silent mutations, ten times the cohort median of 24); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 7 are altered in under 2% of this cohort (BTK, BCL2, PIK3CD, MS4A1, CD19, ROR1, CD52): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "3 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "SF3B1 is mutated in 174 of 1074 patients in Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022).", "numerator": 174, "denominator": 1074, "frequency": 16.2, "cohorts": 3, "evidence_confidence": "moderate", "source": "cll_broad_2022", "retrieved_at": "2026-09-18"}, {"finding": "ATM is mutated in 111 of 1074 patients in Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022).", "numerator": 111, "denominator": 1074, "frequency": 10.34, "cohorts": 3, "evidence_confidence": "moderate", "source": "cll_broad_2022", "retrieved_at": "2026-09-18"}, {"finding": "TP53 is mutated in 88 of 1074 patients in Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022).", "numerator": 88, "denominator": 1074, "frequency": 8.19, "cohorts": 3, "evidence_confidence": "moderate", "source": "cll_broad_2022", "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": "cll_broad_2022", "region_events": [], "matrix": [{"label": "BTK", "kind": "SNV / small indel", "gene": "BTK", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 0.19, "altered": 2, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 537, "note": null}]}, {"label": "BCL2", "kind": "SNV / small indel", "gene": "BCL2", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 0.47, "altered": 5, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 0.59, "altered": 3, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 537, "note": null}]}, {"label": "PIK3CD", "kind": "SNV / small indel", "gene": "PIK3CD", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 0.37, "altered": 4, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 0.2, "altered": 1, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 537, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 8.19, "altered": 88, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 2.96, "altered": 15, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "observed", "frequency": 7.08, "altered": 38, "tested": 537, "note": null}]}, {"label": "ATM", "kind": "SNV / small indel", "gene": "ATM", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 10.34, "altered": 111, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 6.13, "altered": 31, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "observed", "frequency": 15.27, "altered": 82, "tested": 537, "note": null}]}, {"label": "SF3B1", "kind": "SNV / small indel", "gene": "SF3B1", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 16.2, "altered": 174, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 8.1, "altered": 41, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "observed", "frequency": 21.04, "altered": 113, "tested": 537, "note": null}]}, {"label": "NOTCH1", "kind": "SNV / small indel", "gene": "NOTCH1", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 5.03, "altered": 54, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 9.49, "altered": 48, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "observed", "frequency": 7.08, "altered": 38, "tested": 537, "note": null}]}, {"label": "MS4A1", "kind": "SNV / small indel", "gene": "MS4A1", "cells": [{"cohort": "cll_broad_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 537, "note": null}]}, {"label": "CD19", "kind": "SNV / small indel", "gene": "CD19", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 0.19, "altered": 2, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 0.2, "altered": 1, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 537, "note": null}]}, {"label": "ROR1", "kind": "SNV / small indel", "gene": "ROR1", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 0.19, "altered": 2, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 0.2, "altered": 1, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "observed", "frequency": 0.19, "altered": 1, "tested": 537, "note": null}]}, {"label": "CD52", "kind": "SNV / small indel", "gene": "CD52", "cells": [{"cohort": "cll_broad_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 537, "note": null}]}, {"label": "MYD88", "kind": "SNV / small indel", "gene": "MYD88", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 3.07, "altered": 33, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 3.56, "altered": 18, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "observed", "frequency": 2.98, "altered": 16, "tested": 537, "note": null}]}, {"label": "POT1", "kind": "SNV / small indel", "gene": "POT1", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 5.59, "altered": 60, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 3.36, "altered": 17, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "observed", "frequency": 6.52, "altered": 35, "tested": 537, "note": null}]}, {"label": "CHD2", "kind": "SNV / small indel", "gene": "CHD2", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 5.12, "altered": 55, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 4.74, "altered": 24, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", "status": "observed", "frequency": 4.84, "altered": 26, "tested": 537, "note": null}]}, {"label": "XPO1", "kind": "SNV / small indel", "gene": "XPO1", "cells": [{"cohort": "cll_broad_2022", "status": "observed", "frequency": 4.75, "altered": 51, "tested": 1074, "note": null}, {"cohort": "cll_iuopa_2015", "status": "observed", "frequency": 1.78, "altered": 9, "tested": 506, "note": null}, {"cohort": "cll_broad_2015", 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