{"disease": {"name": "Acute myeloid leukemia", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "aml"}, "updated_at": "2026-09-17", "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": "FLT3", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 57, "tested": 200, "frequency": 28.5, "cohort_count": 3, "frequency_range": {"min": 6.67, "max": 30.19}, "major_variants": ["D835Y (n=11)", "F594_D600dup (n=5)", "D835E (n=3)", "D835H (n=2)", "S584_D600dup (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 57/200 patients (28.5%).", "Without the 8 hypermutated patients: 57/192 (29.69%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 57, "tested": 200, "frequency": 28.5, "frequency_excl_hypermutated": 29.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 237, "tested": 785, "frequency": 30.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 10, "tested": 150, "frequency": 6.67, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 22.23, "width": 77.77, "reference": 95.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 57, "tested": 200, "frequency": 28.5, "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": "NPM1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 54, "tested": 200, "frequency": 27.0, "cohort_count": 3, "frequency_range": {"min": 0.67, "max": 27.0}, "major_variants": ["W288Cfs*12 (n=51)", "N270Qfs*11 (n=1)", "I269Efs*14 (n=1)", "W288Lfs*12 (n=1)", "K263R (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 54/200 patients (27.0%).", "Without the 8 hypermutated patients: 53/192 (27.6%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 54, "tested": 200, "frequency": 27.0, "frequency_excl_hypermutated": 27.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 200, "tested": 785, "frequency": 25.48, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 1, "tested": 150, "frequency": 0.67, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.23, "width": 87.77, "reference": 90.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 54, "tested": 200, "frequency": 27.0, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "IDH1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 19, "tested": 200, "frequency": 9.5, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 9.5}, "major_variants": ["R132C (n=12)", "R132H (n=5)", "R132G (n=1)", "R132S (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 19/200 patients (9.5%).", "Without the 8 hypermutated patients: 19/192 (9.9%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 19, "tested": 200, "frequency": 9.5, "frequency_excl_hypermutated": 9.9, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 60, "tested": 785, "frequency": 7.64, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 31.67, "reference": 31.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 200, "frequency": 9.5, "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": "IDH2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 21, "tested": 200, "frequency": 10.5, "cohort_count": 3, "frequency_range": {"min": 2.67, "max": 12.74}, "major_variants": ["R140Q (n=17)", "R172K (n=3)", "R140L (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 21/200 patients (10.5%).", "Without the 8 hypermutated patients: 19/192 (9.9%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 21, "tested": 200, "frequency": 10.5, "frequency_excl_hypermutated": 9.9, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 100, "tested": 785, "frequency": 12.74, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 4, "tested": 150, "frequency": 2.67, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.9, "width": 33.57, "reference": 35.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 200, "frequency": 10.5, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 200, "frequency": 1.0, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 1.0}, "major_variants": ["H3727R (n=1)", "F3888V (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 2/200 patients (1.0%).", "Without the 8 hypermutated patients: 0/192 (0.0%).", "Largest alteration is amplification: 12/191 (6.28%) in the reference cohort's copy-number profile.", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 2, "tested": 200, "frequency": 1.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 3, "tested": 785, "frequency": 0.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.93, "width": 1.0, "reference": 20.93, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 12, "tested": 191, "frequency": 6.28, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MEN1", "alteration_types": ["deep deletion"], "altered": 0, "tested": 200, "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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 0/200 patients (0.0%).", "Without the 8 hypermutated patients: 0/192 (0.0%).", "Observed in 0 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 0, "tested": 200, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "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": 200, "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": "DNMT3A", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 50, "tested": 200, "frequency": 25.0, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 25.0}, "major_variants": ["R882H (n=21)", "R882C (n=7)", "R736H (n=2)", "R803S (n=1)", "X556_splice (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 50/200 patients (25.0%).", "Without the 8 hypermutated patients: 49/192 (25.52%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 50, "tested": 200, "frequency": 25.0, "frequency_excl_hypermutated": 25.52, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 165, "tested": 785, "frequency": 21.02, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 83.33, "reference": 83.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 50, "tested": 200, "frequency": 25.0, "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", "amplification", "deep deletion"], "altered": 15, "tested": 200, "frequency": 7.5, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 9.68}, "major_variants": ["C176Y (n=1)", "P223Rfs*4 (n=1)", "R280G (n=1)", "X225_splice (n=1)", "X10_splice (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 15/200 patients (7.5%).", "Without the 8 hypermutated patients: 14/192 (7.29%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 15, "tested": 200, "frequency": 7.5, "frequency_excl_hypermutated": 7.29, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 76, "tested": 785, "frequency": 9.68, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 32.27, "reference": 25.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 200, "frequency": 7.5, "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": ["deep deletion"], "altered": 0, "tested": 200, "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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 0/200 patients (0.0%).", "Without the 8 hypermutated patients: 0/192 (0.0%).", "Observed in 0 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 0, "tested": 200, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "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": 200, "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": "CD33", "alteration_types": ["amplification", "deep deletion"], "altered": 0, "tested": 200, "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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 0/200 patients (0.0%).", "Without the 8 hypermutated patients: 0/192 (0.0%).", "Observed in 0 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 0, "tested": 200, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "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": 200, "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": "IL3RA", "alteration_types": ["amplification", "deep deletion"], "altered": 0, "tested": 200, "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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 0/200 patients (0.0%).", "Without the 8 hypermutated patients: 0/192 (0.0%).", "Largest alteration is amplification: 1/191 (0.52%) in the reference cohort's copy-number profile.", "Observed in 0 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 0, "tested": 200, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 1.73, "width": 1.0, "reference": 1.73, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 191, "frequency": 0.52, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "KIT", "alteration_types": ["SNV / small indel"], "altered": 8, "tested": 200, "frequency": 4.0, "cohort_count": 3, "frequency_range": {"min": 2.04, "max": 10.0}, "major_variants": ["D816V (n=4)", "Y418S (n=1)", "S197L (n=1)", "Y418* (n=1)", "T417_Y418delinsLRWD (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 8/200 patients (4.0%).", "Without the 8 hypermutated patients: 8/192 (4.17%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 8, "tested": 200, "frequency": 4.0, "frequency_excl_hypermutated": 4.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 16, "tested": 785, "frequency": 2.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 15, "tested": 150, "frequency": 10.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.8, "width": 26.53, "reference": 13.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 200, "frequency": 4.0, "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": "CEBPA", "alteration_types": ["SNV / small indel"], "altered": 13, "tested": 200, "frequency": 6.5, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 6.5}, "major_variants": ["L317_T318insM (n=1)", "R343Afs*79 (n=1)", "A44Pfs*63 (n=1)", "A44P (n=1)", "T310_Q311insKQNP (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 13/200 patients (6.5%).", "Without the 8 hypermutated patients: 12/192 (6.25%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 13, "tested": 200, "frequency": 6.5, "frequency_excl_hypermutated": 6.25, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 43, "tested": 785, "frequency": 5.48, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 21.67, "reference": 21.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 200, "frequency": 6.5, "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": "RUNX1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 19, "tested": 200, "frequency": 9.5, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 11.59}, "major_variants": ["R201* (n=4)", "R162G (n=2)", "A142Gfs*2 (n=1)", "S167_G168del (n=1)", "D123Gfs*11 (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 19/200 patients (9.5%).", "Without the 8 hypermutated patients: 18/192 (9.38%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 19, "tested": 200, "frequency": 9.5, "frequency_excl_hypermutated": 9.38, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 91, "tested": 785, "frequency": 11.59, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 38.63, "reference": 31.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 200, "frequency": 9.5, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TET2", "alteration_types": ["SNV / small indel", "deep deletion", "amplification"], "altered": 17, "tested": 200, "frequency": 8.5, "cohort_count": 3, "frequency_range": {"min": 3.33, "max": 13.38}, "major_variants": ["K1422Ifs*27 (n=2)", "R1216* (n=2)", "Q317Rfs*30 (n=1)", "A1381Gfs*20 (n=1)", "K1439Nfs*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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 17/200 patients (8.5%).", "Without the 8 hypermutated patients: 17/192 (8.85%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 17, "tested": 200, "frequency": 8.5, "frequency_excl_hypermutated": 8.85, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 105, "tested": 785, "frequency": 13.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 5, "tested": 150, "frequency": 3.33, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.1, "width": 33.5, "reference": 28.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 200, "frequency": 8.5, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NRAS", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 16, "tested": 200, "frequency": 8.0, "cohort_count": 3, "frequency_range": {"min": 8.0, "max": 14.67}, "major_variants": ["G13D (n=5)", "G12D (n=4)", "Q61H (n=2)", "Q61K (n=2)", "Q61R (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 16/200 patients (8.0%).", "Without the 8 hypermutated patients: 15/192 (7.81%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 16, "tested": 200, "frequency": 8.0, "frequency_excl_hypermutated": 7.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 110, "tested": 785, "frequency": 14.01, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 22, "tested": 150, "frequency": 14.67, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 26.67, "width": 22.23, "reference": 26.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 200, "frequency": 8.0, "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": "WT1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 13, "tested": 200, "frequency": 6.5, "cohort_count": 3, "frequency_range": {"min": 3.33, "max": 7.39}, "major_variants": ["A382Gfs*69 (n=2)", "S381* (n=1)", "A382Sfs*4 (n=1)", "S381Lfs*71 (n=1)", "A382Gfs*3 (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 13/200 patients (6.5%).", "Without the 8 hypermutated patients: 13/192 (6.77%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 13, "tested": 200, "frequency": 6.5, "frequency_excl_hypermutated": 6.77, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 58, "tested": 785, "frequency": 7.39, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 5, "tested": 150, "frequency": 3.33, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.1, "width": 13.53, "reference": 21.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 200, "frequency": 6.5, "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": "BPIFC", "alteration_types": ["SNV / small indel"], "altered": 11, "tested": 200, "frequency": 5.5, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 5.5}, "major_variants": ["X219_splice (n=10)", "X82_splice (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 11/200 patients (5.5%).", "Without the 8 hypermutated patients: 10/192 (5.21%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 11, "tested": 200, "frequency": 5.5, "frequency_excl_hypermutated": 5.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 1, "tested": 785, "frequency": 0.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 18.33, "reference": 18.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 11, "tested": 200, "frequency": 5.5, "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": "PTPN11", "alteration_types": ["SNV / small indel"], "altered": 10, "tested": 200, "frequency": 5.0, "cohort_count": 3, "frequency_range": {"min": 5.0, "max": 6.0}, "major_variants": ["F71L (n=2)", "D61N (n=1)", "I545L (n=1)", "P491L (n=1)", "Q510L (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 10/200 patients (5.0%).", "Without the 8 hypermutated patients: 10/192 (5.21%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 10, "tested": 200, "frequency": 5.0, "frequency_excl_hypermutated": 5.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 41, "tested": 785, "frequency": 5.22, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 9, "tested": 150, "frequency": 6.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.67, "width": 3.33, "reference": 16.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 200, "frequency": 5.0, "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": 10, "tested": 200, "frequency": 5.0, "cohort_count": 3, "frequency_range": {"min": 5.0, "max": 6.0}, "major_variants": ["G12V (n=2)", "G12D (n=2)", "G13D (n=2)", "Q61H (n=1)", "A59E (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 10/200 patients (5.0%).", "Without the 8 hypermutated patients: 9/192 (4.69%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 10, "tested": 200, "frequency": 5.0, "frequency_excl_hypermutated": 4.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 40, "tested": 785, "frequency": 5.1, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 9, "tested": 150, "frequency": 6.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.67, "width": 3.33, "reference": 16.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 200, "frequency": 5.0, "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": "SMC1A", "alteration_types": ["SNV / small indel", "amplification"], "altered": 9, "tested": 200, "frequency": 4.5, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 4.5}, "major_variants": ["G1131R (n=1)", "R586Q (n=1)", "A487G (n=1)", "R816H (n=1)", "R96H (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 9/200 patients (4.5%).", "Without the 8 hypermutated patients: 8/192 (4.17%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 9, "tested": 200, "frequency": 4.5, "frequency_excl_hypermutated": 4.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 11, "tested": 785, "frequency": 1.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 15.0, "reference": 15.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 200, "frequency": 4.5, "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": "U2AF1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 8, "tested": 200, "frequency": 4.0, "cohort_count": 3, "frequency_range": {"min": 0.67, "max": 5.35}, "major_variants": ["S34F (n=5)", "S34Y (n=2)", "Q157P (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 8/200 patients (4.0%).", "Without the 8 hypermutated patients: 8/192 (4.17%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 8, "tested": 200, "frequency": 4.0, "frequency_excl_hypermutated": 4.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 42, "tested": 785, "frequency": 5.35, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 1, "tested": 150, "frequency": 0.67, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.23, "width": 15.6, "reference": 13.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 200, "frequency": 4.0, "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": "SMC3", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 200, "frequency": 3.5, "cohort_count": 3, "frequency_range": {"min": 1.4, "max": 3.5}, "major_variants": ["T1174I (n=1)", "R254* (n=1)", "R661P (n=1)", "I1001V (n=1)", "R381Q (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 7/200 patients (3.5%).", "Without the 8 hypermutated patients: 7/192 (3.65%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 7, "tested": 200, "frequency": 3.5, "frequency_excl_hypermutated": 3.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 11, "tested": 785, "frequency": 1.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 3, "tested": 150, "frequency": 2.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.67, "width": 7.0, "reference": 11.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 200, "frequency": 3.5, "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": "SENP6", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 7, "tested": 200, "frequency": 3.5, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 3.5}, "major_variants": ["X409_splice (n=7)"], "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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 7/200 patients (3.5%).", "Without the 8 hypermutated patients: 6/192 (3.12%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 7, "tested": 200, "frequency": 3.5, "frequency_excl_hypermutated": 3.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 11.67, "reference": 11.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 200, "frequency": 3.5, "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": "PHF6", "alteration_types": ["SNV / small indel", "amplification"], "altered": 7, "tested": 200, "frequency": 3.5, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 3.5}, "major_variants": ["E139* (n=1)", "F214* (n=1)", "N23Kfs*2 (n=1)", "C326R (n=1)", "X196_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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 7/200 patients (3.5%).", "Without the 8 hypermutated patients: 7/192 (3.65%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 7, "tested": 200, "frequency": 3.5, "frequency_excl_hypermutated": 3.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 25, "tested": 785, "frequency": 3.18, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 11.67, "reference": 11.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 200, "frequency": 3.5, "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": "HPS3", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 7, "tested": 200, "frequency": 3.5, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 3.5}, "major_variants": ["X467_splice (n=7)"], "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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 7/200 patients (3.5%).", "Without the 8 hypermutated patients: 6/192 (3.12%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 7, "tested": 200, "frequency": 3.5, "frequency_excl_hypermutated": 3.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 11.67, "reference": 11.67, "scale_max": 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[{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 7, "tested": 200, "frequency": 3.5, "frequency_excl_hypermutated": 2.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 85, "tested": 785, "frequency": 10.83, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", 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"2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 6/200 patients (3.0%).", "Without the 8 hypermutated patients: 4/192 (2.08%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 6, "tested": 200, "frequency": 3.0, "frequency_excl_hypermutated": 2.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 10.0, "reference": 10.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 200, "frequency": 3.0, 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["Reference cohort: TCGA PanCancer Atlas AML (2018), 6/200 patients (3.0%).", "Without the 8 hypermutated patients: 5/192 (2.6%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 6, "tested": 200, "frequency": 3.0, "frequency_excl_hypermutated": 2.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 19, "tested": 785, "frequency": 2.42, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 1, "tested": 150, "frequency": 0.67, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.23, "width": 7.77, "reference": 10.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 200, "frequency": 3.0, "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": "NF1", "alteration_types": ["SNV / small indel", "deep deletion", "amplification"], "altered": 6, "tested": 200, "frequency": 3.0, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 3.06}, "major_variants": ["R1276Q (n=2)", "G842D (n=1)", "A1676S (n=1)", "R1241* (n=1)", "R1306* (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 6/200 patients (3.0%).", "Without the 8 hypermutated patients: 4/192 (2.08%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 6, "tested": 200, "frequency": 3.0, "frequency_excl_hypermutated": 2.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 24, "tested": 785, "frequency": 3.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 10.2, "reference": 10.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 200, "frequency": 3.0, "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": "MYCBP2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 6, "tested": 200, "frequency": 3.0, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 3.0}, "major_variants": ["S22P (n=1)", "S1724P (n=1)", "V2989A (n=1)", "A2381Gfs*12 (n=1)", "N3578K (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 6/200 patients (3.0%).", "Without the 8 hypermutated patients: 3/192 (1.56%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 6, "tested": 200, "frequency": 3.0, "frequency_excl_hypermutated": 1.56, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 2, "tested": 785, "frequency": 0.25, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 10.0, "reference": 10.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 200, "frequency": 3.0, "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": "MED12", "alteration_types": ["SNV / small indel", "amplification"], "altered": 6, "tested": 200, "frequency": 3.0, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 3.0}, "major_variants": ["A826T (n=1)", "W1688* (n=1)", "G862S (n=1)", "L383V (n=1)", "L1431Pfs*4 (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 6/200 patients (3.0%).", "Without the 8 hypermutated patients: 2/192 (1.04%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 6, "tested": 200, "frequency": 3.0, "frequency_excl_hypermutated": 1.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 4, "tested": 785, "frequency": 0.51, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 10.0, "reference": 10.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 200, "frequency": 3.0, "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": "GDI2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 6, "tested": 200, "frequency": 3.0, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 3.0}, "major_variants": ["X52_splice (n=6)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 6/200 patients (3.0%).", "Without the 8 hypermutated patients: 5/192 (2.6%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 6, "tested": 200, "frequency": 3.0, "frequency_excl_hypermutated": 2.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 10.0, "reference": 10.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 200, "frequency": 3.0, "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": "GABRG3", "alteration_types": ["SNV / small indel", "amplification"], "altered": 6, "tested": 200, "frequency": 3.0, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 3.0}, "major_variants": ["X355_splice (n=6)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 6/200 patients (3.0%).", "Without the 8 hypermutated patients: 5/192 (2.6%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 6, "tested": 200, "frequency": 3.0, "frequency_excl_hypermutated": 2.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 1, "tested": 785, "frequency": 0.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 10.0, "reference": 10.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 200, "frequency": 3.0, "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": "BRWD1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 6, "tested": 200, "frequency": 3.0, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 3.0}, "major_variants": ["I1876K (n=3)", "X278_splice (n=2)", "C1994Y (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 6/200 patients (3.0%).", "Without the 8 hypermutated patients: 4/192 (2.08%).", "Largest alteration is amplification: 7/191 (3.66%) in the reference cohort's copy-number profile.", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 6, "tested": 200, "frequency": 3.0, "frequency_excl_hypermutated": 2.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.2, "width": 1.0, "reference": 12.2, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 7, "tested": 191, "frequency": 3.66, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ABCA6", "alteration_types": ["SNV / small indel"], "altered": 6, "tested": 200, "frequency": 3.0, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 3.0}, "major_variants": ["L736* (n=5)", "L736I (n=2)", "S461F (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 6/200 patients (3.0%).", "Without the 8 hypermutated patients: 5/192 (2.6%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 6, "tested": 200, "frequency": 3.0, "frequency_excl_hypermutated": 2.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 10.0, "reference": 10.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 200, "frequency": 3.0, "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": "ZCRB1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 5, "tested": 200, "frequency": 2.5, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.5}, "major_variants": ["L76F (n=4)", "X76_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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 5/200 patients (2.5%).", "Without the 8 hypermutated patients: 4/192 (2.08%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 5, "tested": 200, "frequency": 2.5, "frequency_excl_hypermutated": 2.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.33, "reference": 8.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 200, "frequency": 2.5, "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": "VPS13B", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 5, "tested": 200, "frequency": 2.5, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.5}, "major_variants": ["L1507F (n=2)", "W1325L (n=1)", "G1986R (n=1)", "T787N (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 5/200 patients (2.5%).", "Without the 8 hypermutated patients: 3/192 (1.56%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 5, "tested": 200, "frequency": 2.5, "frequency_excl_hypermutated": 1.56, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.33, "reference": 8.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 200, "frequency": 2.5, "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", "amplification", "deep deletion"], "altered": 5, "tested": 200, "frequency": 2.5, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 2.5}, "major_variants": ["L1407F (n=1)", "P1753S (n=1)", "L2602V (n=1)", "W2501* (n=1)", "Y650S (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 5/200 patients (2.5%).", "Without the 8 hypermutated patients: 3/192 (1.56%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 5, "tested": 200, "frequency": 2.5, "frequency_excl_hypermutated": 1.56, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 1, "tested": 785, "frequency": 0.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.33, "reference": 8.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 200, "frequency": 2.5, "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": "SLC43A1", "alteration_types": ["SNV / small indel"], "altered": 5, "tested": 200, "frequency": 2.5, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.5}, "major_variants": ["X446_splice (n=4)", "Y532C (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 5/200 patients (2.5%).", "Without the 8 hypermutated patients: 4/192 (2.08%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 5, "tested": 200, "frequency": 2.5, "frequency_excl_hypermutated": 2.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.33, "reference": 8.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 200, "frequency": 2.5, "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": "SLC16A7", "alteration_types": ["SNV / small indel", "amplification"], "altered": 5, "tested": 200, "frequency": 2.5, "cohort_count": 2, "frequency_range": {"min": 0.0, "max": 2.5}, "major_variants": ["X121_splice (n=4)", "S106R (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 5/200 patients (2.5%).", "Without the 8 hypermutated patients: 4/192 (2.08%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 5, "tested": 200, "frequency": 2.5, "frequency_excl_hypermutated": 2.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 1, "tested": 785, "frequency": 0.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.33, "reference": 8.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 200, "frequency": 2.5, "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": "RALGPS2", "alteration_types": ["SNV / small indel"], "altered": 5, "tested": 200, "frequency": 2.5, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.5}, "major_variants": ["X161_splice (n=5)"], "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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 5/200 patients (2.5%).", "Without the 8 hypermutated patients: 4/192 (2.08%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 5, "tested": 200, "frequency": 2.5, "frequency_excl_hypermutated": 2.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.33, "reference": 8.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 200, "frequency": 2.5, "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": "PRUNE2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 5, "tested": 200, "frequency": 2.5, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.5}, "major_variants": ["P523R (n=1)", "R2151Q (n=1)", "A670V (n=1)", "A1865V (n=1)", "S1018_S1019insATVT (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 · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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: TCGA PanCancer Atlas AML (2018), 5/200 patients (2.5%).", "Without the 8 hypermutated patients: 2/192 (1.04%).", "Observed in 1 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "laml_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas AML (2018)", "altered": 5, "tested": 200, "frequency": 2.5, "frequency_excl_hypermutated": 1.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "200/200", "coverage_note": null, "source_id": "laml_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "aml_ohsu_2022", "cohort_name": "Beat AML, OHSU (Cancer Cell 2022)", "altered": 0, "tested": 785, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "903/942", "coverage_note": null, "source_id": "aml_ohsu_2022", "is_reference": false}, {"cohort": "aml_target_2018_pub", "cohort_name": "TARGET paediatric AML (2018)", "altered": 0, "tested": 150, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1025", "coverage_note": null, "source_id": "aml_target_2018_pub", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 8.33, "reference": 8.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 200, "frequency": 2.5, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}], "variants": [], "genomic_events": [{"event_type": "copy_number", "gene": "KMT2A", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KMT2A amplification", "genomic_coordinate": null, "observed": 12, "observed_status": "observed", "observed_unit": "patients", "tested": 191, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.28, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["laml_tcga_pan_can_atlas_2018"], "source_ids": ["laml_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "RUNX1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "RUNX1 deep deletion", "genomic_coordinate": null, "observed": 13, "observed_status": "observed", "observed_unit": "patients", "tested": 240, "tested_status": "observed", "tested_unit": "patients", "frequency": 5.42, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["aml_target_2018_pub"], "source_ids": ["aml_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SENP6", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SENP6 deep deletion", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 240, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.58, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["aml_target_2018_pub"], "source_ids": ["aml_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "BRWD1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "BRWD1 amplification", "genomic_coordinate": null, "observed": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 191, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.66, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["laml_tcga_pan_can_atlas_2018"], "source_ids": ["laml_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "U2AF1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "U2AF1 amplification", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 191, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.62, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["laml_tcga_pan_can_atlas_2018"], "source_ids": ["laml_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TET2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "TET2 deep deletion", "genomic_coordinate": null, "observed": 6, "observed_status": "observed", "observed_unit": "patients", "tested": 240, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.5, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["aml_target_2018_pub"], "source_ids": ["aml_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 3, "total_cohorts": 3}, {"modality": "Copy number (discrete)", "available_cohorts": 2, "total_cohorts": 3}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 3}], "chromosome_summary": [], "cohorts": [{"name": "TCGA PanCancer Atlas AML (2018)", "source": "cBioPortal", "accession": "laml_tcga_pan_can_atlas_2018", "patients": {"value": 200, "status": "observed", "unit": "patients"}, "samples": {"value": 200, "status": "observed", "unit": "samples"}, "disease_subtype": "Acute Myeloid Leukemia (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (200)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "laml_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 200, "patients_in_roster": 200, "frequencies_computed": true, "samples_sequenced": 200, "samples_in_study": 200, "hypermutated_patients": 8, "median_mutations_per_sample": 14.0, "reason": null}}, {"name": "Beat AML, OHSU (Cancer Cell 2022)", "source": "cBioPortal", "accession": "aml_ohsu_2022", "patients": {"value": 785, "status": "observed", "unit": "patients"}, "samples": {"value": 903, "status": "observed", "unit": "samples"}, "disease_subtype": "Acute Myeloid Leukemia (OHSU, Cancer Cell 2022)", "assay_type": "exome or genome", "sequencing_method": "WES (903)", "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": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "aml_ohsu_2022", "is_demo": false, "assay_coverage": {"patients_with_calls": 785, "patients_in_roster": 785, "frequencies_computed": true, "samples_sequenced": 903, "samples_in_study": 942, "hypermutated_patients": 0, "median_mutations_per_sample": 6, "reason": null}}, {"name": "TARGET paediatric AML (2018)", "source": "cBioPortal", "accession": "aml_target_2018_pub", "patients": {"value": 150, "status": "observed", "unit": "patients"}, "samples": {"value": 150, "status": "observed", "unit": "samples"}, "disease_subtype": "Pediatric Acute Myeloid Leukemia (TARGET, 2018)", "assay_type": "exome or genome", "sequencing_method": "WES (150)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "aml_target_2018_pub", "is_demo": false, "assay_coverage": {"patients_with_calls": 150, "patients_in_roster": 150, "frequencies_computed": true, "samples_sequenced": 150, "samples_in_study": 1025, "hypermutated_patients": 0, "median_mutations_per_sample": 3.0, "reason": null}}], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018", "source_record_id": "laml_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "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 · Beat AML, OHSU (Cancer Cell 2022)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_ohsu_2022", "source_record_id": "aml_ohsu_2022", "source_version": null, "retrieved_at": "2026-09-17", "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 · TARGET paediatric AML (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=aml_target_2018_pub", "source_record_id": "aml_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-17", "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 2026-09-17; 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 TCGA PanCancer Atlas AML (2018) (200 sequenced patients, exome or genome), the most frequently altered of the 45 genes shown are FLT3 28.5%, NPM1 27.0%, DNMT3A 25.0%, IDH2 10.5%, IDH1 9.5%. Each figure divides by the patients on whom that gene could be called.", "8 of 200 patients are hypermutated (more than 140 non-silent mutations, ten times the cohort median of 14); every gene's frequency without them is beside the headline.", "Of the briefing's 13 curated targets, 4 are altered in under 2% of this cohort (MEN1, BCL2, CD33, IL3RA): 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": "FLT3 is mutated in 57 of 200 patients in TCGA PanCancer Atlas AML (2018).", "numerator": 57, "denominator": 200, "frequency": 28.5, "cohorts": 3, "evidence_confidence": "moderate", "source": "laml_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}, {"finding": "NPM1 is mutated in 54 of 200 patients in TCGA PanCancer Atlas AML (2018).", "numerator": 54, "denominator": 200, "frequency": 27.0, "cohorts": 3, "evidence_confidence": "moderate", "source": "laml_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}, {"finding": "DNMT3A is mutated in 50 of 200 patients in TCGA PanCancer Atlas AML (2018).", "numerator": 50, "denominator": 200, "frequency": 25.0, "cohorts": 2, "evidence_confidence": "moderate", "source": "laml_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}], "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": "laml_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "FLT3", "kind": "SNV / small indel", "gene": "FLT3", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 28.5, "altered": 57, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 30.19, "altered": 237, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 6.67, "altered": 10, "tested": 150, "note": null}]}, {"label": "NPM1", "kind": "SNV / small indel", "gene": "NPM1", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 27.0, "altered": 54, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 25.48, "altered": 200, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 0.67, "altered": 1, "tested": 150, "note": null}]}, {"label": "IDH1", "kind": "SNV / small indel", "gene": "IDH1", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.5, "altered": 19, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 7.64, "altered": 60, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "IDH2", "kind": "SNV / small indel", "gene": "IDH2", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.5, "altered": 21, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 12.74, "altered": 100, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 2.67, "altered": 4, "tested": 150, "note": null}]}, {"label": "KMT2A", "kind": "SNV / small indel", "gene": "KMT2A", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.0, "altered": 2, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 0.38, "altered": 3, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "KMT2A", "kind": "amplification", "gene": "KMT2A", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.28, "altered": 12, "tested": 191, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "aml_ohsu_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 240, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "MEN1", "kind": "SNV / small indel", "gene": "MEN1", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "DNMT3A", "kind": "SNV / small indel", "gene": "DNMT3A", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 25.0, "altered": 50, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 21.02, "altered": 165, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.5, "altered": 15, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 9.68, "altered": 76, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "BCL2", "kind": "SNV / small indel", "gene": "BCL2", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "CD33", "kind": "SNV / small indel", "gene": "CD33", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "IL3RA", "kind": "SNV / small indel", "gene": "IL3RA", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "KIT", "kind": "SNV / small indel", "gene": "KIT", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.0, "altered": 8, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 2.04, "altered": 16, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 10.0, "altered": 15, "tested": 150, "note": null}]}, {"label": "CEBPA", "kind": "SNV / small indel", "gene": "CEBPA", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.5, "altered": 13, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 5.48, "altered": 43, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "RUNX1", "kind": "SNV / small indel", "gene": "RUNX1", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.5, "altered": 19, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 11.59, "altered": 91, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "RUNX1", "kind": "deep deletion", "gene": "RUNX1", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 191, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "aml_ohsu_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 5.42, "altered": 13, "tested": 240, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TET2", "kind": "SNV / small indel", "gene": "TET2", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.5, "altered": 17, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 13.38, "altered": 105, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 3.33, "altered": 5, "tested": 150, "note": null}]}, {"label": "TET2", "kind": "deep deletion", "gene": "TET2", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.52, "altered": 1, "tested": 191, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "aml_ohsu_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 2.5, "altered": 6, "tested": 240, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "NRAS", "kind": "SNV / small indel", "gene": "NRAS", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.0, "altered": 16, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 14.01, "altered": 110, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 14.67, "altered": 22, "tested": 150, "note": null}]}, {"label": "WT1", "kind": "SNV / small indel", "gene": "WT1", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.5, "altered": 13, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 7.39, "altered": 58, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 3.33, "altered": 5, "tested": 150, "note": null}]}, {"label": "BPIFC", "kind": "SNV / small indel", "gene": "BPIFC", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.5, "altered": 11, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 0.13, "altered": 1, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "PTPN11", "kind": "SNV / small indel", "gene": "PTPN11", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.0, "altered": 10, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 5.22, "altered": 41, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 6.0, "altered": 9, "tested": 150, "note": null}]}, {"label": "KRAS", "kind": "SNV / small indel", "gene": "KRAS", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.0, "altered": 10, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 5.1, "altered": 40, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 6.0, "altered": 9, "tested": 150, "note": null}]}, {"label": "SMC1A", "kind": "SNV / small indel", "gene": "SMC1A", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.5, "altered": 9, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 1.4, "altered": 11, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "U2AF1", "kind": "SNV / small indel", "gene": "U2AF1", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.0, "altered": 8, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 5.35, "altered": 42, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 0.67, "altered": 1, "tested": 150, "note": null}]}, {"label": "U2AF1", "kind": "amplification", "gene": "U2AF1", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.62, "altered": 5, "tested": 191, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "aml_ohsu_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 0.42, "altered": 1, "tested": 240, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SMC3", "kind": "SNV / small indel", "gene": "SMC3", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.5, "altered": 7, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 1.4, "altered": 11, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 2.0, "altered": 3, "tested": 150, "note": null}]}, {"label": "SENP6", "kind": "SNV / small indel", "gene": "SENP6", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.5, "altered": 7, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "SENP6", "kind": "deep deletion", "gene": "SENP6", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 191, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "aml_ohsu_2022", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "aml_target_2018_pub", "status": "observed", "frequency": 4.58, "altered": 11, "tested": 240, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PHF6", "kind": "SNV / small indel", "gene": "PHF6", "cells": [{"cohort": "laml_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.5, "altered": 7, "tested": 200, "note": null}, {"cohort": "aml_ohsu_2022", "status": "observed", "frequency": 3.18, "altered": 25, "tested": 785, "note": null}, {"cohort": "aml_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 150, "note": null}]}, {"label": "HPS3", "kind": "SNV / small indel", "gene": "HPS3", "cells": [{"cohort": 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